Caroli Disease: Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.Muridae: A family of the order Rodentia containing 250 genera including the two genera Mus (MICE) and Rattus (RATS), from which the laboratory inbred strains are developed. The fifteen subfamilies are SIGMODONTINAE (New World mice and rats), CRICETINAE, Spalacinae, Myospalacinae, Lophiomyinae, ARVICOLINAE, Platacanthomyinae, Nesomyinae, Otomyinae, Rhizomyinae, GERBILLINAE, Dendromurinae, Cricetomyinae, MURINAE (Old World mice and rats), and Hydromyinae.Centromere Protein B: A DNA-binding protein that interacts with a 17-base pair sequence known as the CENP-B box motif. The protein is localized constitutively to the CENTROMERE and plays an important role in its maintenance.Chimera: An individual that contains cell populations derived from different zygotes.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Embryo Transfer: The transfer of mammalian embryos from an in vivo or in vitro environment to a suitable host to improve pregnancy or gestational outcome in human or animal. In human fertility treatment programs, preimplantation embryos ranging from the 4-cell stage to the blastocyst stage are transferred to the uterine cavity between 3-5 days after FERTILIZATION IN VITRO.alpha 1-Antitrypsin: Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.Bile Ducts, Intrahepatic: Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct.Congenital Disorders of Glycosylation: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.Bile Ducts: The channels that collect and transport the bile secretion from the BILE CANALICULI, the smallest branch of the BILIARY TRACT in the LIVER, through the bile ductules, the bile ducts out the liver, and to the GALLBLADDER for storage.Bile Duct Diseases: Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.Bile Duct Neoplasms: Tumors or cancer of the BILE DUCTS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.United StatesBiliary Tract Neoplasms: Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.Biliary Tract Diseases: Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.Biliary Tract: The BILE DUCTS and the GALLBLADDER.Polycystic Kidney, Autosomal Dominant: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.TRPP Cation Channels: A subgroup of TRP cation channels that are widely expressed in various cell types. Defects are associated with POLYCYSTIC KIDNEY DISEASES.Polycystic Kidney Diseases: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.Cholangitis: Inflammation of the biliary ductal system (BILE DUCTS); intrahepatic, extrahepatic, or both.Gastroenterology: A subspecialty of internal medicine concerned with the study of the physiology and diseases of the digestive system and related structures (esophagus, liver, gallbladder, and pancreas).Poly A: A group of adenine ribonucleotides in which the phosphate residues of each adenine ribonucleotide act as bridges in forming diester linkages between the ribose moieties.Editorial Policies: The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Fagopyrum: A plant genus of the family POLYGONACEAE that is used as an EDIBLE GRAIN. Although the seeds are used as cereal, the plant is not one of the cereal grasses (POACEAE).Authorship: The profession of writing. Also the identity of the writer as the creator of a literary production.User-Computer Interface: The portion of an interactive computer program that issues messages to and receives commands from a user.Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Consultants: Individuals referred to for expert or professional advice or services.Vanilla: A plant genus of the family ORCHIDACEAE that is the source of the familiar flavoring used in foods and medicines (FLAVORING AGENTS).Paeonia: A plant genus of the family Paeoniaceae, order Dilleniales, subclass Dilleniidae, class Magnoliopsida. These perennial herbs are up to 2 m (6') tall. Leaves are alternate and are divided into three lobes, each lobe being further divided into three smaller lobes. The large flowers are symmetrical, bisexual, have 5 sepals, 5 petals (sometimes 10), and many stamens.Medical Secretaries: Individuals responsible for various duties pertaining to the medical office routine.History, 20th Century: Time period from 1901 through 2000 of the common era.Liver Transplantation: The transference of a part of or an entire liver from one human or animal to another.AlabamaFibrocystic Breast Disease: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency.Adenofibroma: A benign neoplasm composed of glandular and fibrous tissues, with a relatively large proportion of glands. (Stedman, 25th ed)Breast Diseases: Pathological processes of the BREAST.Polycystic Kidney, Autosomal Recessive: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Breast: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES.Cleidocranial Dysplasia: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.Alstrom Syndrome: Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.Ciliary Motility Disorders: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.Cilia: Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)Ellis-Van Creveld Syndrome: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)Kidney Diseases, Cystic: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).

Monolobar Caroli's Disease and cholangiocarcinoma. (1/34)

Caroli's Disease (CD) is a rare congenital disorder characterized by cystic dilatation of the intrahepatic bile ducts. This report describes a patient with cholangiocarcinoma arising in the setting of monolobar CD. In spite of detailed investigations including biliary enteric bypass and endoscopic retrograde cholangiography, the diagnosis of mucinous cholangiocarcinoma (CCA) was not made for almost one year. The presentation, diagnosis and treatment of monolobar CD and the association between monolobar CD and biliary tract cancer are discussed. Hepatic resection is the treatment of choice for monolobar CD.  (+info)

Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease). (2/34)

BACKGROUND: Caroli's disease is a rare congenital disorder characterised by cystic dilatation of the intrahepatic bile ducts and an increased risk of cholangiocellular carcinoma. The cause is unknown, but occasional familial clustering suggests that some cases are inherited, in particular when occurring in association with polycystic kidney disease and germline PKD1 gene mutations. To date, no gene responsible for familial isolated Caroli's disease has been identified, and no genetic investigations of liver tissue from patients with Caroli's disease have been reported. PATIENT/METHOD: A liver biopsy specimen from a patient with isolated Caroli's disease, without any signs of cholangiocellular carcinoma, was short term cultured and cytogenetically investigated after G banding with Wright's stain. RESULT: Cytogenetic analysis disclosed the karyotype 45-47,XX,der(3)t(3;8)(p23;q13), +2mar[cp6]/46,XX[18]. CONCLUSIONS: The finding of an unbalanced translocation between chromosomes 3 and 8 suggests that loss of distal 3p and/or gain of 8q is of pathogenetic importance in Caroli's disease. Alternatively, structural rearrangements of genes located in 3p23 and 8q13 may be of the essence. These chromosomal breakpoints may also pinpoint the location of genes involved in inherited forms of Caroli's disease not associated with polycystic kidney disease.  (+info)

Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. (3/34)

Caroli's disease (congenital intrahepatic biliary dilatation) associated with congenital hepatic fibrosis is an autosomal recessive polycystic kidney disease. Recently, the polycystic kidney (PCK) rat, a spontaneous mutant derived from a colony of CRJ:CD rats with polycystic lesions in the liver and an autosomal recessive mode of inheritance, was reported. In the present study, the pathology of the hepatobiliary system and the biliary cell-kinetics were evaluated in fetuses (day 18 to 21 of gestation) and neonates and adults (1 day to 4 months after delivery) of PCK rats. CRJ:CD rats were used as a control. Multiple segmental and saccular dilatations of intrahepatic bile ducts were first observed in fetuses at 19 days of gestation. The dilatation spread throughout the liver and the degree of dilatation increased with aging. Gross and histological features characterizing ductal plate malformation were common in the intrahepatic bile ducts. Overgrowth of portal connective tissue was evident and progressive after delivery. These features were very similar to those of Caroli's disease with congenital hepatic fibrosis. Proliferative activity in the biliary epithelial cells was greater in PCK rats than controls during the development. In contrast, the biliary epithelial apoptosis was less extensive in PCK rats than the controls until 1 week after delivery, but greater after 3 weeks, suggesting that the remodeling defect in immature bile ducts associated with the imbalance of cell kinetics plays a role in the occurrence of intrahepatic biliary anomalies in PCK rats. The PCK rat could be a useful and promising animal model of Caroli's disease with congenital hepatic fibrosis.  (+info)

An unusual case of biliary atresia. (4/34)

Intrahepatic biliary cysts are rarely seen in the patients with biliary atresia. We describe a ten-month-old child with biliary atresia in whom the abdominal imaging studies (ultrasonography, computed tomographic scan and magnetic resonance cholangiopancreatography) revealed multiple intrahepatic biliary cysts ('bile lakes'). The child also had intrapulmonary shunting of blood due to pulmonary arteriovenous fistulae, which were demonstrated on contrast-enhanced echocardiography. Both these findings, 'bile lakes' and pulmonary arteriovenous fistulae occur rarely in biliary atresia.  (+info)

Bile duct dysplasia and congenital hepatic fibrosis associated with polycystic kidney (Caroli syndrome) in a rat. (5/34)

Hepatic fibrosis with bile duct ectasia and hyperplasia associated with polycystic kidney disease, analogous to Caroli syndrome in humans, was observed in a rat used as a control in a subchronic toxicity study. Light microscopy of liver sections showed multiple cystic and segmental saccular dilatations and hyperplasia of the intrahepatic bile ducts associated with overgrowth of portal connective tissue; the kidneys had diffuse cystic dilatation of cortical renal tubules. The lesions resembled those of human cases of the fibropolycystic disease termed as Caroli syndrome, which is thought to be the result of a pathologic developmental process known as ductal plate malformation. Recently, an animal model of Caroli syndrome has been described in mutant rats from a colony that constantly showed renal and hepatic cysts and an autosomal recessive mode of inheritance. The finding in our case of identical hepatorenal lesions suggests that the same mutation has occurred incidentally in a standard colony.  (+info)

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. (6/34)

Caroli's disease is a rare autosomal recessive condition characterized by cystic dilatation of the intrahepatic bile ducts and infantile polycystic kidney disease. We report a case with Caroli's disease detected prenatally at 33 weeks' gestation with fetal ultrasound findings of a cystic liver mass and echogenic kidneys. Postnatal investigation confirmed enlarged and echogenic kidneys with dilatation of the intrahepatic bile ducts consistent with the diagnosis of Caroli's disease. Genetic analysis of the gene, PKHD1, associated with autosomal recessive polycystic kidney disease (ARPKD) showed that the patient had compound heterozygous mutations, confirming that this early onset Caroli's disease was part of the spectrum of ARPKD. To our knowledge this is the third case of Caroli's disease detected prenatally and the first in which the infant survived.  (+info)

Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. (7/34)

We report the prenatal sonographic features of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. The condition was seen at 22 weeks of gestation and led to termination of pregnancy. This is the first description of congenital bile duct dilatation using prenatal sonography. It is also the first report of a case in which the features of dysplasia were evident in all three of the organs which may be affected, the kidneys, liver and pancreas.  (+info)

Caroli's disease. (8/34)

Carolis disease is a rare communicating segmental or diffuse dilatation of the intrahepatic biliary tree. Cholangitis, liver cirrhosis and cholangiocarcinoma are its potential complications. A case of Carolis disease in a boy of 6 years with bilobal involvement presenting with intermittent abdominal pain, fever and hepatomegaly is reported here.  (+info)

NIH Rare Diseases : 52 Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis , stone development in the bile ducts, and bacterial cholangitis . In addition to the symptoms of Caroli disease, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Caroli disease generally occurs sporadically in people with no family history of the condition; however, rare reports exist of autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease . Caroli syndrome is generally inherited in an autosomal recessive manner and is frequently seen in association with autosomal recessive ...
Figure 3: MRCP showing multiple cystic dilations of bilateral intrahepatic ducts with signal voids seen in left duct suggestive of calculi, (white arrows). This is a typical picture of Carolis disease with bilateral intrahepatic cystic dilatations with normal extrahepatic ducts.. Answer. Carolis disease with hepatolithiasis and cholangiocarcinoma.. Discussion. Carolis disease (CD) is a rare autosomal recessive, hereditary disorder of the intrahepatic bile ducts due to a ductal plate malformation. In CD, the large and proximal intrahepatic bile ducts are affected and they correspond to the type V bile duct cyst as incorporated by Todani et al. The patient may present with cholangitis or manifestations of portal hypertension (if associated with congenital hepatic fibrosis). Hepatolithiasis and choledocholithiasis is common.1 It is associated with both repeated episodes of cholangitis and cholangiocarcinoma. Dysplasia of the biliary epithelium generated by bile stasis and chronic inflammation ...
TY - JOUR. T1 - Incidentally detected polycystic kidney and Carolis disease. AU - Shetty, Shiran. AU - Pandey, Salil. AU - Leelakrishnan, Venkatakrishnan. PY - 2014/1/1. Y1 - 2014/1/1. UR - http://www.scopus.com/inward/record.url?scp=84890915765&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84890915765&partnerID=8YFLogxK. M3 - Comment/debate. AN - SCOPUS:84890915765. VL - 27. JO - Annals of Gastroenterology. JF - Annals of Gastroenterology. SN - 1108-7471. IS - 1. ER - ...
Looking for information on Congenital hepatic fibrosis? Medigest has all you need to know about Congenital hepatic fibrosis - Symptoms and Signs, Causes, Treatments and definition
Caroli disease is a birth defect distinguished by abnormal prenatal development of the bile duct in the liver. The exact cause is unknown. In most cases, the simple or isolated form of Caroli disease is believed to result from a spontaneous genetic change (mutation) that occurs for unknown reasons (sporadic). Researchers believe that this form is inherited as an autosomal dominant genetic trait. In contrast, the more complex form of Caroli disease appears to be inherited as an autosomal recessive genetic trait. The gene responsible for the more complex form of the disorder has been tracked to chromosome 6 (6p21.1-p12).. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated ...
Caroli disease and Caroli syndrome are rare congenital disorders of the intrahepatic bile ducts. They are both characterized by dilatation of the intrahepatic biliary tree.
Caroli disease is a type of inherited condition that affects the biliary tract. The main signs of Caroli disease are generally...
Elizabeth was born Feb. 26, 2009, with a rare brain defect known as Dandy Walker Malformation. Because of this malformation, Elizabeth had to undergo brain surgery when she was only a day old to insert a shunt to control the hydrocephalus that had accumulated. She has since had four shunt revisions. When Elizabeth was six months old she went into respiratory failure following an upper GI to figure out why she was having respiratory problems. It was determined that she had been aspirating silently from birth, causing severe damage to her lungs. She was on a ventilator for more than three weeks and remained in the hospital for eight weeks. We decided to have a g-tube/nissen surgery to prevent further damage. (She takes nothing by mouth.) At this time it was discovered that Elizabeth also suffers from congenital hepatic fibrosis, a rare liver condition. Children with congenital hepatic fibrosis often need liver transplants at some point so we are closely monitoring that along with her kidneys. ...
Disorders of platelet function include several rare congenital disorders, as well as a myriad of common acquired conditions (eg,use, effects of other drugs, liver disease, uremia). The consultant Hematologist is often asked to evaluate patients with
Looking for online definition of Congenital hepatic fibrosis in the Medical Dictionary? Congenital hepatic fibrosis explanation free. What is Congenital hepatic fibrosis? Meaning of Congenital hepatic fibrosis medical term. What does Congenital hepatic fibrosis mean?
Lancet II: 475-478 Bodaghi E, Zaman T (1978) Familial nephropathy associated with bone anomaly, degenerative retinitis and congenital liver fibrosis (Abstr) 12th annual meeting of the European Society for Pediatric Nephrology, Israel 1978 Bodaghi E, Zaman T, Kheradpir MH (1980) Familial nephropathy associated with congenital liver firbrosis, degenerative retinitis and cone-shaped epiphysis. Int J Pediatr Nephrol 1:153-156 Biochis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephrononphthisis. Waldherr R, Gubler MC, Levy M, Broyer M, Habib R (1978)The significance of pure mesangial proliferation in idiopathic nephrotic syndrome. Clin Nephrol 10:171-179 Waldherr R, Scharer K, Muller-Wiefel DE, Seelig HP (1979) Neue klinische und patho-anatomische Aspekte bei der fokalen und segmentalen Sklerose/Hyalinose. In: Olbing H (ed) Nierenbiopsie bei Kindern. Springer, Berlin, Heidelberg, New York, pp 91-99 White RHR, Mills RJ, Beetham R, Raine DN (1975) The significance of ...
A very rare congenital disorder in which the legs are fused together, giving the appearance of a mermaid. (Also called Sirenomalia)
Müllerian aplasia (MA) is a rare congenital disorder of the female reproductive tract. It involves loss of a functional uterus and upper two thirds of the vagina, resulting in infertility and need of treatment to enable normal sex life. Skeletal and renal structural abnormalities, such as scoliosis and renal agenesis are often associated with MA. The patients are otherwise healthy females with normal secondary sex characteristics and karyotype (46,XX). However, psychosocial problems are often encountered in MA patients because of its large impact on a woman s life. The incidence of MA is estimated to be at least 1:5000 newborn girls worldwide. The aim of this study was to decipher the complex genetics of MA in order to shed light on its underlying causes, which presently are unknown for the majority of the patients. For this purpose we utilized clinical data and DNA samples from a large cohort of Finnish MA patients, the second largest world-wide published to date. We used several genome-wide ...
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 gene on chromosome 6 cause ARPKD; the classic presentation for ARPKD is systemic hypertension with progression to end-stage renal disease (ESRD) by the age of 15.Wikipedia Mutations considered pathogenic for autosomal recessive polycystic kidney disease include: ...
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD. Symptoms and signs include abdominal discomfort, polyuria, polydipsia, incidental discovery of hypertension, abdominal mass. The classic presentation for ARPKD is systemic hypertension with progression to end-stage renal disease (ESRD) by the age of 15. In a typical presentation, a small number of ARPKD sufferers live to adulthood with some kidney function; but with significant deterioration in liver function. This outcome is postulated to result from expression of the polycystic kidney and hepatic disease gene PKHD1, which is located on chromosome 6p. In severe cases, a fetus will present with oligohydramnios and as a result, may present with Potter sequence.[citation needed] The cause of ARPKD is linked to mutations in the PKHD1 gene. ARPKD is a significant ...
Symptoms of Congenital hepatic porphyria including 21 medical symptoms and signs of Congenital hepatic porphyria, alternative diagnoses, misdiagnosis, and correct diagnosis for Congenital hepatic porphyria signs or Congenital hepatic porphyria symptoms.
Combined liver-kidney transplantation in ARPKD is associated with increased mortality compared to kidney transplantation in our large observational study and was not associated with improved 5-year kidney transplant survival. Long-term follow-up of both kidney and liver involvement are needed to bet …
The New Family, a blog site that examines and celebrates modern family life, is run by long-time parenting editor, writer and spokesperson, Brandie Weikle. She is also the host of The New Family Podcast. Former editor-in-chief of Canadian Family magazine, Brandie has also been the parenting and relationships editor for the Toronto Star, founding editor of two Toronto Star websites, and an editor for Todays Parent. Brandie is a single mother of two in Toronto and a frequent television and radio guest on parenting topics. She lives next door to the father of her children and leads a dynamic Facebook community called Positive Co-Parenting After Divorce. You can contact Brandie here. You can find our privacy policy here. ...
Many children living with autosomal recessive polycystic kidney disease (ARPKD) will eventually require a transplant. The majority will receive transplants between the ages of 4 to 10. It can be challenging for specialists to predict when a child will require a transplant, since the disease is different for each person. Generally speaking, the earlier on in life that kidney failure occurs, the sooner the child will require a transplant. Some children will not require a transplant until adulthood while others, who may be born with high blood pressure and advanced kidney problems, may require one sooner. You may also need to wait until your child reaches an adequate weight and size.. Most transplantation typically lasts between 15 and 20 years before patients require an additional transplant. ...
Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for management of both pain and renal insufficiency. Since increasing cystic index (CI; percent of kidney occupied by cysts) drives both renal expansion and organ dysfunction, management of these patients, including decisions such as elective nephrectomy and prioritization on the transplant waitlist, could clearly benefit from serial determination of CI ...
As many of you already know, our son Stephen, was born with a very rare kidney disease called Autosomal Recessive Polycystic Kidney Disease (ARPKD). When the disease was discovered during my 27th week of pregnancy, Stephen was given a less than 1% chance of living more than a few hours past birth. He was to have such severely underdeveloped lungs that the doctors said he would likely not even take one breath. However, on January 4, 2011, we were granted our 1st miracle - and Stephen came into this world crying (and breathing!) and fighting for his life with fierce determination. At 6 days old he had BOTH of his kidneys removed and began peritoneal dialysis. Stephen came home from the hospital when he was 59 days old requiring 12 hours of dialysis every night as well as enteral (feeding tube) feeds during the day and overnight ...
As many of you already know, our son Stephen, was born with a very rare kidney disease called Autosomal Recessive Polycystic Kidney Disease (ARPKD). When the disease was discovered during my 27th week of pregnancy, Stephen was given a less than 1% chance of living more than a few hours past birth. He was to have such severely underdeveloped lungs that the doctors said he would likely not even take one breath. However, on January 4, 2011, we were granted our 1st miracle - and Stephen came into this world crying (and breathing!) and fighting for his life with fierce determination. At 6 days old he had BOTH of his kidneys removed and began peritoneal dialysis. Stephen came home from the hospital when he was 59 days old requiring 12 hours of dialysis every night as well as enteral (feeding tube) feeds during the day and overnight ...
2019) Untargeted gas chromatography-mass spectrometry-based metabolomics analysis of kidney and liver tissue from the Lewis Polycystic Kidney rat. Journal of Chromatography B, 1118-1119 . pp. 25-32. Kemp, M.W., Saito, M., Schmidt, A.F., Usuda, H., Watanabe, S., Sato, S., Hanita, T., Kumagai, Y., Takahashi, T., Musk, G.C., Furfaro, L., Stinson, L., Fee, E.L., Eddershaw, P.J., Payne, M.S., Smallwood, K., Bridges, J., Newnham, J.P. and Jobe, A.H. ...
Cirrhosis is a diffuse lesion characterized by architectural distortion of the liver because of collagen deposition and development of nodules of regenerating hepatocytes. It is an irreversible change that results from diseases characterized by chronic liver injury (Fujimoto, 2000). Cirrhosis alters the pattern of blood flow through the liver and results in impaired perfusion of hepatic lobules with intrahepatic and extrahepatic shunting of blood. This deprives hepatocytes of uniform perfusion by arterial and portal venous blood resulting in both portal hypertension and other consequences of cirrhosis including impaired protein synthesis and altered drug metabolism. The histologic diagnosis of cirrhosis requires the presence of regenerative nodules or pseudolobules completely encircled by fibrosis such as congenital hepatic fibrosis can result in portal hypertension in the absence of cirrhosis (Anthony et al., 1977).. The events leading to the development of cirrhosis are generally those of ...
Pallister W syndrome is an extremely rare congenital disorder characterized by a distinctive facies, along with mental retardation, speech problems, bone deformities, and seizures. The facial features include prominent mandible, pugilistic appearance, orofacial cleft, broad flat nasal bridge and jaw, partial adontia, high broad forehead, broad uvula, widely spaced and slanting eyes, and/or palpabral fissures. The skeletal abnormalities involve mainly the limbs and include cubitus valgus and limited elbow movement due to subluxation. Some patients may also show some signs of spasticity.. Very few cases of Pallister W syndrome have been reported worldwide. More than half of these are males. Diagnosis is based on the clinical features. The differentials to be considered include Oto-Palato-Digital syndrome, Frontometaphyseal Dysplasia, and Larsen syndrome. Treatment is symptomatic. Surgical correction of the clefting of the lip and palate, followed by speech therapy may be required. Seizures can be ...
01 -0. Congenital Fibrosis Biddi ng Congenital fibrosis syndrome is a group of rare congenital disorders characterized by re- striction of the extraocular muscles and t adarise of the muscles by fibrous tissue.
... is a rare congenital disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, short stature and skeletal abnormalities. This is the forum for discussing anything related to this health condition
Definition of Angelman syndrome in US English - a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absenc
The cellular functions of Dock6 and Dock8 are largely unknown. Dock6 is reported to exhibit dual guanine nucleotide exchange specificity towards the small GTPases Rac1 and Cdc42. Mutations in the DOCK6 gene are associated with Adams-Oliver syndrome 2, a rare congenital disorder characterized by defects of the scalp, cranium, and limbs, and mottling of the skin. Mutations in the DOCK8 gene have been reported in a human lung cancer cell line, and Dock8 deficiency is associated with a variant of combined immunodeficiency, known as Hyperimmunoglobulin E syndrome (HIES). Dock6 alternative names include dedicator of cytokinesis protein 6, AOS2, ZIR1, and KIAA1395. Dock8 alternative names include dedicator of cytokinesis protein 8, ZIR8, MRD2, FLJ00026, FLJ00152, FLJ00346, and 1200017A24Rik.. Dock7 expression has been reported in neurons and in HEK 293 cells. It binds the small GTPases Rac1 and Rac3, but does not bind Cdc42. Dock7 is required for proliferation and differentiation of neurocytes and ...
Polyorchidism is the incidence of more than two testicles. It is a very rare congenital disorder, with fewer than 201 cases reported in medical literature and 6 cases (two horses, two dogs and two cats) in veterinary literature. Polyorchidism is generally diagnosed via an ultrasound examination of the testicles. However, the diagnosis of polyorchidism should include histological confirmation. The most common form is triorchidism, or tritestes, where three testicles are present. The condition is usually asymptomatic. A man who has polyorchidism is known as a polyorchid. Polyorchidism occurs in two primary forms: Type A and Type B. Type A: The supernumerary testicle is connected to a vas deferens. These testicles are usually reproductively functional. Type A is further subdivided into: Type A1: Complete duplication of the testicle, epididymis and vas deferens. Type A2: The supernumerary testicle has its own epididymis and shares a vas deferens. Type A3: The supernumerary testicle shares the ...
Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity...
From UniProt:. A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).. Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID): SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. [MIM:611291]. ...
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Enlarged kidneys typically prompt a test for autosomal recessive polycystic kidney disease (ARPKD). In some babies, a prenatal ultrasound can detect enlarged kidneys as early as 18 weeks after conception. Families may also hear the kidneys look "echogenic" (emitting echo signals) during an ultrasound, which can be an indicator of kidney problems such as ARPKD.. Genetic diagnosis (or pre-implantation genetic diagnosis) is an early form of testing that can detect specific abnormalities in single cells taken from fertilized human embryos. Embryos that are diagnosed as free of the disorder are then placed in the uterus with the intent to initiate a pregnancy; embryos that test positive for the disorder are destroyed. ...
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited condition, which means its passed on to a child from their parents.. ARPKD is caused by a DNA mutation (abnormality) in a gene called PKHD1, which produces a protein called fibrocystin that gives the kidney its structure. The faulty PKHD1 gene is responsible for small fluid-filled sacs (cysts) and scarring developing in the kidneys. In some cases, the faulty gene can also cause enlargement and scarring of the liver, or the bile ducts (which produce a digestive fluid called bile) to widen. This can make it difficult for blood to flow through the liver and the bile ducts become more vulnerable to infection.. The genetic fault responsible for ARPKD is usually passed on to a child by their parents. ...
Dysplasia: Dysplasia, malformation of a bodily structure or tissue; the term most commonly denotes a malformation of bone. Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is a rare congenital disorder; it is hereditary (autosomal recessive). Affected individuals exhibit heart abnormalities (which may
More than 10 mutations in the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Most of the AKR1D1 gene mutations replace single protein building blocks (amino acids) in the enzyme. These mutations result in production of a 3-oxo-5-β-steroid 4-dehydrogenase enzyme with severely reduced function. Without enough functional enzyme, the conversion of 7α-hydroxy-4-cholesten-3-one to 7α-hydroxy-5β-cholesten-3-one is impaired. The 7α-hydroxy-4-cholesten-3-one instead gets converted into abnormal bile acid compounds that cannot be transported out of the liver into the intestine, where the bile acids are needed to digest fats. This impaired production and release of bile acids leads to cholestasis. As a result, cholesterol and abnormal bile acids build up in the liver and fat-soluble vitamins are not absorbed, leading ...
Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Pancreatic Duct Dilatation
Gastroenterology Alagille Syndrome Cholestasis Colic Colitis Congenital Hepatic Fibrosis Cyclic Vomiting Syndrome Diarrhea Encopresis Intestinal Enterokinase Deficiency Intestinal Malrotation Intestinal Polyposis Syndromes Intussusception Mallory-Weiss Syndrome Microvillus Inclusion Disease Neonatal Hemochromatosis Pediatric Appendicitis Pediatric Appendicitis Empiric Therapy Pediatric Appendicitis Organism-Specific Therapy Pediatric Biliary Atresia Pediatric Caroli Disease Pediatric Celiac Disease Pediatric Cholecystitis Pediatric Constipation Pediatric Crohn…
Background: X-linked (Brutons) agammaglobulinemia (XLA) is a rare congenital disorder with defects in early B cell development caused by mutations in the gene encoding BTK (Bruton tyrosine kinase). The aim of this study was to investigate the expression and phosphorylation of BTK protein domain in these patients.Materials and Methods: A total of 19 patients with mutations in BTK gene were analyzed for the expression and phosphorylation of BTK protein through immunoblotting. The correlations between BTK expression and the results of immunoblotting as well as clinical and immunologic phenotypes were evaluated. Results: Six patients showed normal expression of protein and phosphorylation of BTK and two patients had normal phosphorylation while no expression was observed. There was a significant difference between the groups of patients with normal expression of protein and those without it (p=0.01). Conclusion: Since we identified 6 patients with normal expression and phosphorylation of BTK, and two
4) There are objective findings on biochemical studies of moderate impairment of liver function with jaundice, ascites, bleeding esophageal varices or gastric varices and nutrition and strength may be affected; or there is irreparable obstruction of the common bile duct with recurrent cholangitis ...
There are 16 six-letter words containing A, C, I, L and R: ARCHIL CARLIN CAROLI ... RACILY RICTAL URACIL. Every word on this site can be played in scrabble. See other lists, that start with or end with letters of your choice.
Autosomal Recessive Polycystic Kidney Disease is also called Infantile Polycystic Kidney Disease, which is rarely seen in clinic and babies with the disease die shortly after birth except few ones can live to childhood or adulthood. Autosomal Dominant Polycystic Kidney Disease, also named Adult Polycystic Kidney Disease, is quite commonly seen, which doesnt show obvious symptom in the early stage but has augmented both in number and in size once it is found. Therefore, earlier treatment becomes quite important. How can Polycystic Kidney Disease be found ...
Detailed information on the different types of polycystic kidney disease, including autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and acquired cystic kidney disease
Although renal cysts are present in a wide variety of renal diseases in children, the term polycystic kidney disease is reserved for the following hereditary conditions:Autosomal recessive polycystic kidney disease (ARPKD, previously called infantile
TY - JOUR. T1 - Liver histology of an afibrinogenemic patient with the Bβ-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bβ-L353R fibrinogen vs. the ERSD-associated γ-G284R mutant. AU - Duga, S.. AU - Braidotti, P.. AU - Asselta, R.. AU - Maggioni, M.. AU - Santagostino, E.. AU - Pellegrini, C.. AU - Coggi, G.. AU - Malcovati, M.. AU - Tenchini, Maria Luisa. PY - 2005/4. Y1 - 2005/4. N2 - Background. Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. Their genetic bases are represented by mutations within the three fibrinogen genes. Among the 11 reported missense mutations, a few have been characterized by expression studies and found to have an impaired fibrinogen assembly and/or secretion. Histopathological analyses were previously reported in two ...
Papil stenosis with dilatated bile ducts and pancreatic duct. Biopsy showed chronic inflammation but no malignancy. CT scan.. ...
Giant cystic lesion is seen at location of common bile duct. Enlarged gallbladder and intrahepatic bile duct dilatation also is noted secondary to compression effect of giant cyst. There is no evidence of stone or visible enhancing mass at distal of common bile duct.. ...
A study in Novembers issue of the Journal of Clinical Gastroenterology identifies etiologies and clinical factors that may predict which patients require further diagnostic testing and long-term outcomes of incidentally identified common bile duct dilatation ...
The present study demonstrates that chronic orall-DOPA treatment increases dopamine excretion and concomitantly decreases serotonin excretion in normal rats and rats with RRM. Additionally, rats with RRM had higher dopamine and serotonin synthesis per nephron than their respective controls.. In the kidney, serotonin is synthesized by the proximal tubule from its substrate 5-HTP (27). Because the rate of synthesis of serotonin is dependent on the availability of dietary tryptophan, which is a precursor for serotonin synthesis (6, 8, 30), all rats in the present study were fed the same amount of food. The enzymel-AADC is not thought to be a rate-limiting step in the synthesis of either serotonin or dopamine, because their synthesis is markedly increased by infusion of their substrates (15, 29). Although absolute serotonin excretions are not different between the sham-operated and remnant kidney rats, it is important to note that rats with a remnant kidney have a markedly decreased number of total ...
Lady," the man said to the childrens mother, "would you mind calling the children to sit down with you? Children make me nervous.". -"A Good Man is Hard to Find," by Flannery OConnor. Ive known my best friend, Dwayne, since we were both 9th grade nerds, pencil-necked geeks, weenie-armed squids, droolers, wide receivers, punt returners, pud wads, fart wads, morons, rednecks, flamers, dweebs, hairballs, French horn players, screamers, third basemen, fish heads, butt heads, center fielders, debate team members, space cadets, spaz wads, lead-off batters, chorale singers, talent show winners, freaks, gimps, and advanced placement students. Ill tell him a snippet of a modern-day story from my schoolhouse. The graduate of the Georgia Institute of Technology with a degree in Industrial Engineering will munch on that for a moment and then hell proclaim, "Theyre just being lazy. Thats gotta be it. Theyre lazy." Then hell tell me about his day. He had to drive to Birmingham, Alabama and back. I ...
Web of Care - Kidney Disease Community - Provides information and support for caregivers involved with kidney disease.. Polycystic Kidney Disease - Cecilia Maida is working to increase public awareness of the disease. Canadian Pediatric Kidney Disease Research Centre The Polycystic Kidney Research Foundation - A site for patients, medical professionals, and researchers of Polycystic Kidney Disease, the worlds most common life-threatening genetic disorder.. Baxter - Kidney Disease - Informative site intended for new ESRD patients.. Joeys Page - A page dedicated to Autosomal Recessive Polycystic Kidney Disease (ARPKD) survivors, victims and their families.. Kidney Failure - Sapient Health Networkealth: Conditions and Diseases: E: End-Stage Renal Disease (6). Colorado HealthNet ~ Kidney Disease and Dialysis Center focal segmental glomerulosclerosis Kidney Failure and Kidney Disease Info. McDougall On-Line Wellness Center Kidney Disease - MCW HealthLink Kidney or Renal Disease in Dogs About Celiac ...
Chief Technologist: Éva Kálmánchey Gombos. TThe Molecular Pathology division of the department was established in 1995. At the beginning the DNA analysis panel of severe inherited disorders was introduced, which was extended with the analysis of different genetic risk factors and pharmacogenetic testing. The division provides genetic testing in three main areas:. 1. Molecular genetic analysis of severe inherited diseases (cystic fibrosis, Duchenne/Becker muscular dystrophy, hemochromatosis, Smith-Lemli-Opitz syndrome, Niemann-Pick disease type C, autosomal recessive polycystic kidney disease, MODY, neonatal diabetes, etc).. 2. Molecular genetic analysis of inherited risk factors predisposing to different multifactorial diseases (thrombosis risk factors, hyperlipidemic risk factors).. 3. Pharmacogenetic testing (CYP2C9, TPMT, UGT1A1, VKORC1). In the routine diagnostic procedures a number of different methods are used (blotting techniques, allele-specific PCR, fluorescent real-time PCR methods, ...
TY - JOUR. T1 - Portosystemic shunting in children during the era of endoscopic therapy. T2 - Improved postoperative growth parameters. AU - Kato, Tomoaki. AU - Romero, Rene. AU - Koutouby, Raghad. AU - Mittal, Naveen K.. AU - Thompson, John F.. AU - Schleien, Charles L.. AU - Tzakis, Andreas G.. PY - 2000/4/1. Y1 - 2000/4/1. N2 - Background: Surgical portosystemic shunting has been performed less frequently in recent years. In this retrospective study, recent outcomes of portosystemic shunting in children are described, to evaluate its role in the era of endoscopic therapy. Methods: Retrospective chart review of children who underwent surgical portosystemic shunt procedures between October 1994 and October 1997. Results: Twelve children (age range, 1-16 years) underwent shunting procedures. The causes of portal hypertension were extrahepatic portal vein thrombosis (n = 6), congenital hepatic fibrosis (n = 2), hepatic cirrhosis (n = 2), and other (n = 2). None of the patients were immediate ...
Neurocutaneous melanosis (NCM) is a rare congenital disorder characterized by the association of large and/or multiple congenital melanocytic nevi (CMN) of the skin with melanocytic lesions of the leptomeninges, including melanocytosis. Leptomeningeal melanocytosis carries a poor prognosis once neurological symptoms develop. Despite surgery, which is often not radical, few other treatment options exist. Recently, it was demonstrated that early embryonic, post-zygotic somatic mutations in the NRAS gene are implicated in the pathogenesis of NCM. In this report, we present a 13-year-old boy with NCM and progressive symptomatic leptomeningeal melanocytosis. A somatic NRASQ61K mutation was present in both CMN as well as the melanocytosis. Despite repeated surgery, the patient showed clinical progression. Therefore, treatment with MEK162, a MEK inhibitor, was started on compassionate use base. The patient died only five days later, i.e. too early to expect a clinical effect of MEK162 therapy. We therefore
MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic 4, also known as pfic4, is related to bile acid synthesis defect, congenital, 1 and congenital bile acid synthesis defect, and has symptoms including hepatic failure, portal hypertension and intrahepatic cholestasis. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 4 is TJP2 (Tight Junction Protein 2). The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver ...
Paraurethral duct dilatation is a sequela of gonococcal inflammation of the paraurethral glands in male patients.1 2 We treated 20 men (mean age, 42.1±14.4 years; range, 18-68 years) with paraurethral duct dilatation following gonococcal inflammation of the paraurethral glands using a 50 W CO2 laser instrument (JC40-C; Shanghai Jiading Photoelectric Instrument Plant, Shanghai, China) with a pulse frequency range of 2.5-25 Hz from January 2011 to December 2016.. A single-pulse CO2 laser … ...
October 10/Bucharest/Business Review -- Khaled El Solh is the new CEO of Caroli Foods Group, replacing Haluk Akdemir who held the position between 2000-2011, a period marked by the local merger with Campofrio Food Group. Akdemir will be appointed member of the joint venture board. El Solh, who has also been a member of joint venture board since last year, has over 11 years of professional experience with the company, holding various executive positions. Between 2008 and 2008, he served as sales, marketing and logistics . . .
Dr. Cutter is a Professor of Biostatistics. Dr. Cutter has a major interest in design, analysis, conduct and interpretation of clinical trials, epidemiologic studies and evaluation research. He directs several national and multinational coordinating centers; a combination therapy trial of MS; a surgical trial in Myasthenia Gravis both funded by NINDS; an international registry of 33,000 MS patients supported by the Consortium of MS Centers. He directs the Coordinating Center for the Inhaled Nitric Oxide in premature infants and the Sildinafil in infants lung pilot trial, multi-center trials funded by the NHLBI Lung Division. He is a co-director of the Core A in the Recessive Polycystic Kidney Disease Core Center. Director, Biostatistics/Bioinformatics Resource (BBR) Core Center for Acute Kidney Injury Research, UAB-USCand is Director, Center For Aids Research, Biostatistics Core, UAB and the PI of the Coordinating Center for one of the studies conducted by the Collaborative Antiviral Study ...
TY - JOUR. T1 - Increased water intake decreases progression of polycystic kidney disease in the PCK rat. AU - Nagao, Shizuko. AU - Nishii, Kazuhiro. AU - Katsuyama, Makoto. AU - Kurahashi, Hiroki. AU - Marunouchi, Tohru. AU - Takahashi, Hisahide. AU - Wallace, Darren P.. PY - 2006/8/1. Y1 - 2006/8/1. N2 - Renal enlargement in polycystic kidney disease (PKD) is caused by the proliferation of mural epithelial cells and transepithelial fluid secretion into the cavities of innumerable cysts. Arginine vasopressin (AVP) stimulates the proliferation of human PKD cells in vitro via cAMP-dependent activation of the B-Raf/MEK (MAPK/ERK kinase/extracellular signal-regulated kinase (ERK) pathway. ERK activity is elevated in cells that line the cysts in animals with PKD, and AVP receptor antagonists reduce ERK activity and halt disease progression. For suppression of the effect of AVP physiologically, water intake was increased in PCK rats, a model of PKD, and the effect on renal morphology, cellular ...
Norberto Perico, Luca Antiga, Anna Caroli, Piero Ruggenenti, Giorgio Fasolini, Mariateresa Cafaro, Patrizia Ondei, Nadia Rubis, Olimpia Diadei, Giulia Gherardi, Silvia Prandini, Andrea Panozo, Rodolfo Flores Bravo, Sergio Carminati, Felipe Rodriguez De Leon, Flavio Gaspari, Monica Cortinovis, Nicola Motterlini, Bogdan Ene-Iordache, Andrea Remuzzi and Giuseppe Remuzzi ...
Polycystic kidney disease (PKD) is a developmental kidney disorder which can be inherited as either an autosomal dominant trait, with an incidence of 1:50 to 1:1000, or as an autosomal recessive trait with an incidence of 1:6,000 to 1:40,000. Three different genes have now been cloned that are associated with mutations that cause PKD. Two of these are linked to the most common forms of the dominant disease while the third is associated with the orpk mouse model of recessive polycystic kidney disease. Advances in understanding the molecular genetics of PKD have been paralleled by new insights into the cellular pathophysiology of cyst formation and progressive enlargement. Current data suggest that a number of PKD proteins may interact in a complex, which when disrupted by mutations in PKD genes may lead to altered epithelial proliferative activity, secretion, and cell matrix biology. The identification of a unique cystic epithelial phenotype presents new opportunities for targeted therapies. These
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Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. Human ciliopathies characterized by variable combinations of these features include autosomal recessive (ARPKD) and dominant (ADPKD) polycystic kidney diseases, nephronophthisis (NPHP), Joubert syndrome and related disorders (JSRD), Bardet-Biedl (BBS), Meckel-Gruber (MKS), Oral-Facial-Digital-type 1 (OFD1), and Alstrom syndromes (AS) and skeletal disorders such as Jeune syndrome (JS) and cleidocranial dysplasia. ARPKD, the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis of the liver. JSRD are a heterogenous group of syndromes ...
Dayton M, Longmire W, Tompkins R (1983). "Caroli's Disease: a premalignant condition?". Am J Surg. 145 (1): 41-8. doi:10.1016/ ... Certain parasitic liver diseases may be risk factors as well. Colonization with the liver flukes Opisthorchis viverrini (found ... The disease is diagnosed through a combination of blood tests, imaging, endoscopy, and sometimes surgical exploration, with ... Patients with chronic liver disease, whether in the form of viral hepatitis (e.g. hepatitis B or hepatitis C), alcoholic liver ...
A rare, autosomal recessive form is associated with Caroli disease. Classically, MSK is seen as hyperdense papillae with ... Chronic kidney disease (rarely) Marked chronic pain In the general population, the frequency of medullary sponge kidney disease ... The disease is bilateral in 70% of cases. Many patients with MSK find support in online support groups. MSK awareness colors ... In recent studies, insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to ...
Dayton MT, Longmire WP, Tompkins RK (January 1983). "Caroli's Disease: a premalignant condition?". American Journal of Surgery ... Treatment of advanced diseaseEdit. The majority of cases of cholangiocarcinoma present as inoperable (unresectable) disease[77] ... "Infectious Diseases of Poverty. 7 (1): 44. doi:10.1186/s40249-018-0434-3. PMC 5956617. PMID 29769113.. ... 21 July 2006). Sleisenger and Fordtran's Gastrointestinal and Liver Disease (8th ed.). Saunders. pp. 1493-6. ISBN 978-1-4160- ...
The presence of multiple saccular or cystic dilations of the intrahepatic ducts is known as Caroli's disease. Type VI: An ... Type V: Cystic dilatation of intrahepatic biliary ducts without extrahepatic duct disease. ...
She suffers from Caroli disease, and documented her experiences in The Chronic Illness Experience: Embracing the Imperfect Life ...
Caroli disease Polycystic kidney disease Von Meyenburg complex Biliary hamartomas "eMedicine - Congenital Hepatic Fibrosis : ... It may be associated with other congenital defects, commonly with autosomal recessive polycystic kidney disease, the most ... Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts ... Jorge OA, Jorge AD (2006). "Congenital hepatic fibrosis associated with von Recklinghausen's disease". Revista española de ...
They suspect Caroli disease to be the underlying cause of the liver failure, but fail to confirm it, leaving the case still ...
Seminars in Liver Disease. 31 (01): 033-048. doi:10.1055/s-0031-1272833. PMID 21344349. Caroli, J. (1973-01-01). "Diseases of ... Caroli, J. (1973-01-01). "Diseases of the intrahepatic biliary tree". Clinics in Gastroenterology. 2 (1): 147-161. ISSN 0300- ... Apart from affecting humans it is also a common disease in cats. Presentation can be atypical with no pain or fever especially ... and septicemia are acute complications of the disease, to which patients may succumb during the acute attacks. Chronically, ...
Congenital biliary cystic disease, such as choledochal cysts or Caroli's disease, has also been associated with malignant ...
Polycystic liver disease Solitary congenital cysts Congenital hepatic fibrosis Hydatid cyst Von Meyenburg complexes Caroli ... Infections: HIV, bacillary peliosis (caused by genus Bartonella, bacteria responsible for cat-scratch disease which are ... Hodgkin disease, malignant histiocytosis, seminoma, hepatocellular adenoma, and hepatocarcinoma Renal transplants: It can be ... "Role of endothelial cell injury in the spectrum of azathioprine-induced liver disease after renal transplant: light microscopy ...
Caroli disease Cholesterol emboli Complex partial status epilepticus Cyclic neutropenia Drug fever Erdheim-Chester disease ... Thromboembolic disease (i.e. pulmonary embolism, deep venous thrombosis) occasionally shows fever. Although infrequent, its ... Extrinsic allergic alveolitis Factitious disease Fire-eater's lung Fraudulent fever Gaucher's disease Hamman-Rich syndrome ( ... and amyloidosis Fabry disease Familial cold urticaria Familial Mediterranean fever Hyperimmunoglobulinemia D and periodic fever ...
Cardiac syndrome X Cardiofaciocutaneous syndrome Cardiorenal syndrome Cardiovascular syndrome Carney complex Caroli disease ... Town Lawrence-Seip syndrome Lazarus syndrome Leaky gut syndrome Legg-Calvé-Perthes disease Legius syndrome Leiner's disease ... VIP syndrome VIPoma Visual looming syndrome Vitreous touch syndrome Vogt-Koyanagi-Harada disease Von Hippel-Lindau disease ... disease MEDNIK syndrome Meige's syndrome Meigs' syndrome MELAS syndrome Melkersson-Rosenthal syndrome Melnick-Needles syndrome ...
... heart disease and defect Cor Caroli and Cor Hydrae, stars Côr Cymru, Welsh choir competition Cor Scorpii, Norwegian metal band ...
... caroli disease MeSH C06.267.250.725 --- tracheoesophageal fistula MeSH C06.267.550.600 --- rectal fistula MeSH C06.267.550.600. ... caroli disease MeSH C06.130.120.135 --- cholestasis MeSH C06.130.120.135.150 --- cholestasis, extrahepatic MeSH C06.130.120.135 ... rectal diseases MeSH C06.405.469.860.101 --- anus diseases MeSH C06.405.469.860.101.163 --- anus neoplasms MeSH C06.405.469.860 ... inflammatory bowel diseases MeSH C06.405.205.731.249 --- colitis, ulcerative MeSH C06.405.205.731.500 --- crohn disease MeSH ...
... caroli disease MeSH C16.131.314.244 --- diaphragmatic eventration MeSH C16.131.314.330 --- esophageal atresia MeSH C16.131. ... tay-sachs disease MeSH C16.320.565.150.435.825.300.300.920 --- tay-sachs disease, ab variant MeSH C16.320.565.150.435.825. ... glycogen storage disease type i MeSH C16.320.565.202.449.500 --- glycogen storage disease type ii MeSH C16.320.565.202.449.510 ... glycogen storage disease type iv MeSH C16.320.565.202.449.560 --- glycogen storage disease type v MeSH C16.320.565.202.449.580 ...
Extrahepatic bile duct atresia Autosomal recessive polycystic kidney disease Congential hepatic fibrosis Caroli's disease Von ... Vanishing bile duct syndrome (or "ductopenia") is a loose collection of diseases which leads to the injury to hepatic bile ... Rossini, M. S.; Lorand-Metze, I; Oliveira, G. B.; Souza, C. A. (2000). "Vanishing bile duct syndrome in Hodgkin's disease: Case ... Primary biliary cirrhosis Primary sclerosing cholangitis Hodgkin's lymphoma Chronic graft-versus-host disease Drugs( ...
Caroli disease, choledochal cyst, cholestasis, congenital cytomegalovirus disease, congenital herpes simplex virus infection, ... The influence of age differs according to the disease etiology-i.e., whether biliary atresia is isolated, cystic (CBA), or ... Mack, Cara (2007). "The Pathogenesis of Biliary Atresia: Evidence for a Virus-Induced Autoimmune Disease". Seminars in Liver ... Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of ...
CS1 maint: Multiple names: authors list (link) Caroli, Anna; Prestia, Annapaola; Wade, Sara; Chen, Kewei; Ayutyanont, ... Alzheimer's disease related Worldwide ADNI : documents disease progression in a diverse range of racial and ethnic groups in ... Other diseases Parkinson's Progressive Markers Initiative: aims to identify biomarkers for Parkinson's disease progression and ... Rafii, Michael S. (2014-01-01). "Preclinical Alzheimer's disease therapeutics". Journal of Alzheimer's disease: JAD. 42 Suppl 4 ...
... may refer tà Caroli (surname) Caroli disease of bile ducts Caroli Group, a company based in Monaco Caroli Church, Malmö ... in Sweden Caroli church, Borås in Sweden USS Cor Caroli (AK-91), American cargo ship. ...
... with more reported cases of Caroli syndrome than of Caroli disease. Caroli disease is distinct from other diseases that cause ... Friedman JR: Caroli Disease at eMedicine Choi BI, Yeon KM, Kim SH, Han MC (1 January 1990). "Caroli disease: central dot sign ... Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 ... Caroli disease usually occurs in the presence of other diseases, such as autosomal recessive polycystic kidney disease, ...
... transporter deficiency Carnitine-acylcarnitine translocase deficiency Carnosinase deficiency Carnosinemia Caroli disease ... Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease ... Marie-Tooth disease type 2C Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease ... d Charcot disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease deafness dominant type Charcot-Marie-Tooth disease ...
Diseases of the Esophagus". Harrison's Principles of Internal Medicine, 17e. *^ Burkitt DP (1981). "Hiatus hernia: is it ... The clinical significance of type I hernias is in their association with reflux disease. Sliding hernias are the most common ... Although type II hernias are associated with reflux disease, their primary clinical significance lies in the potential for ... This may result in gastroesophageal reflux disease (GERD) or laryngopharyngeal reflux (LPR) with symptoms such as a taste of ...
Stratakis Caroli syndrome - Jacques Caroli Carrión's disease - Daniel Alcides Carrión Castleman disease - Benjamin Castleman ... Related disease naming structures reference place names (Bornholm disease, Lyme disease, Ebola virus disease), and societies, ... Lynch Machado-Joseph disease (a.k.a. Machado-Joseph Azorean disease, Machado disease, Joseph's disease) - named for William ... examples being Lou Gehrig's disease, Hartnup disease, and Mortimer's disease. In at least one instance, Machado-Joseph disease ...
Dayton M, Longmire W, Tompkins R. Caroli's Disease: a premalignant condition?. Am J Surg. 1983, 145 (1): 41-8. PMID 6295196. ... 先天性肝內膽道囊腫(英语:Caroli's syndrome)(五種膽道囊腫(英语:choledochal cysts)中的一種)患者一生罹患膽管癌的概率为15%[29][30];罕見的遺傳性非息肉結腸癌(英语:Lynch syndrome)和膽道乳突瘤 ... Digestive Diseases and Sciences. 2005-09-01, 50 (9): 1734-1740. ISSN 0163-2116. PMID 16133981. doi:10.1007/s10620-005-2927-8.. ... Seminars in Liver Disease
Disease. *Congenital. *Neoplasms and cancer. *Inflammatory bowel disease. *Gluten sensitivity. *Other. *Symptoms and signs * ...
"Caroli Linnaei Systema naturae sistens regna tria naturae". google.com.. *^ Smedley, Edward; Rose, Hugh James; Rose, Henry John ... Coccidians in the genus Aggregata living in the gut cause severe disease to the host. Octopuses have an innate immune system, ... The diseases and parasites that affect octopuses have been little studied, but cephalopods are known to be the intermediate or ...
Caroli disease and Caroli syndrome are rare congenital disorders of the intrahepatic bile ducts. They are both characterized by ... and Pediatric Caroli Disease What to Read Next on Medscape. Related Conditions and Diseases. * Biliary Disease ... Caroli disease is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. [1] As with ... Both Caroli disease and Caroli syndrome are associated with a risk of cholangiocarcinoma at a rate of 100 times that of the ...
... with more reported cases of Caroli syndrome than of Caroli disease. Caroli disease is distinct from other diseases that cause ... Friedman JR: Caroli Disease at eMedicine Choi BI, Yeon KM, Kim SH, Han MC (1 January 1990). "Caroli disease: central dot sign ... Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 ... Caroli disease usually occurs in the presence of other diseases, such as autosomal recessive polycystic kidney disease, ...
We aim to publish fresh experimental and clinical work across the spectrum of HPB disease, while concentrating on those ... Liver Atrophy Associated With Monolobar Carolis Disease. L. N. Mohan, P. G. Thomas, A. B. Kilpadi, and S. DCunha ... L. N. Mohan, P. G. Thomas, A. B. Kilpadi, and S. DCunha, "Liver Atrophy Associated With Monolobar Carolis Disease," HPB ...
... which was first described in 1958 by the French physician Jacques Caroli. This is a rare congenital disorder that classically ... Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts, ... Caroli Disease Imaging) and Caroli Disease Imaging What to Read Next on Medscape. Related Conditions and Diseases. * Biliary ... In addition, polycystic renal disease, which is associated with Caroli disease, can be confirmed with ultrasonography. ...
Caroli disease and Caroli syndrome are rare congenital disorders of the intrahepatic bile ducts. They are both characterized by ... Pediatric Caroli Disease) and Pediatric Caroli Disease What to Read Next on Medscape. Related Conditions and Diseases. * ... Patients with Caroli disease or Caroli syndrome may have a history of intermittent abdominal pain, which reflects episodes of ... Carolis disease in congenital hepatic fibrosis and infantile polycystic disease. Liver. 1982 Dec. 2(4):346-54. [Medline]. ...
Caroli Disease. Synonyms of Caroli Disease. *Congenital Dilatation of Intrahepatic Bile Duct ... Rare Disease Database. 0-9• A• B• C• D• E• F• G• H• I• J• K• L• M• N• O• P• Q• R• S• T• U• V• W• X• Y• Z ... This form of Caroli disease is also often associated, in ways that are not well understood, with polycystic kidney disease, and ... In addition, this form of Caroli disease may also be associated with polycystic kidney disease and, in severe cases, liver ...
The main signs of Caroli disease are generally... ... Caroli disease is a type of inherited condition that affects ... Often Caroli disease can be confused with Caroli syndrome, which is a related but distinct congenital abnormality. Patients ... Caroli disease is a rare inherited genetic disorder that causes the bodys biliary system to develop abnormally. The biliary ... Symptoms of Caroli disease develop from the dilated bile ducts located in the liver. Having enlarged ducts can lead to ...
Carolis syndrome consists of Carolis disease and congenital hepatic fibrosis and as a standalone... ... Carolis disease is a rare congenital disorder of the intrahepatic biliary tree. A localized form of this disorder affects ... Carolis syndrome consists of Carolis disease and congenital hepatic fibrosis and as a standalone disorder is being diagnosed ... Carolis disease is a rare congenital disorder of the intrahepatic biliary tree. A localized form of this disorder affects ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Caroli disease ... Caroli disease Title Other Names:. Congenital polycystic dilatation of intrahepatic bile ducts; Caroli disease isolated; Cystic ... Diseases expand submenu for Diseases * Browse A-Z * Find Diseases By Category expand submenu for Find Diseases By Category * ... condition called autosomal recessive polycystic kidney disease.[1][2] People affected by Caroli disease and Caroli syndrome may ...
MalaCards integrated aliases for Caroli Disease:. Name: Caroli Disease 12 74 52 29 43 15 39 17 71 ... Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease. 61 ... Global: Rare diseases Anatomical: Liver diseases Gastrointestinal diseases See all MalaCards categories (disease lists) ... NIH Rare Diseases : 52 Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ...
Disease caused by this micro-organism is unusual, although more frequent than reported. Case presentation: A 74-year-old man ... Eggerthella lenta bacteraemia in a patient with Caroli disease * José Miguel Sahuquillo-Arce1​ ,2​, Jorge Guitián-Deltell2​, ... Chromobacterium violaceum infection in chronic granulomatous disease: a case report and review of the literature Zaal Meher- ... 2011; Eggerthella lenta bacteremia in a Crohns disease patient after ileocecal resection. Future Microbiol6:595-597 [CrossRef] ...
title = "Intrahepatic cholangiocarcinoma arising in Carolis disease",. keywords = "Carolis disease, Cholangiocarcinoma, Liver ... Jang, M. H. Y., Lee, Y. J. I., & Kim, H. (2014). Intrahepatic cholangiocarcinoma arising in Carolis disease. Clinical and ... Jang, MHY, Lee, YJI & Kim, H 2014, Intrahepatic cholangiocarcinoma arising in Carolis disease, Clinical and Molecular ... Intrahepatic cholangiocarcinoma arising in Carolis disease. / Jang, Min H.ye; Lee, Yoon J.in; Kim, Haeryoung. ...
Shetty S, Pandey S, Leelakrishnan V. Incidentally detected polycystic kidney and Carolis disease. Annals of Gastroenterology. ... Shetty, S., Pandey, S., & Leelakrishnan, V. (2014). Incidentally detected polycystic kidney and Carolis disease. Annals of ... Shetty, S, Pandey, S & Leelakrishnan, V 2014, Incidentally detected polycystic kidney and Carolis disease, Annals of ... Incidentally detected polycystic kidney and Carolis disease. In: Annals of Gastroenterology. 2014 ; Vol. 27, No. 1. ...
Carolis Disease. Br Med J 1971; 4 :623 (Published 04 December 1971) ... Treating Renal Disease Br Med J 1971; 4 :630 (Published 04 December 1971) ... Studying Disease Patterns Br Med J 1971; 4 :631 (Published 04 December 1971) ... Spontaneous pneumothorax and apical lung disease. Br Med J 1971; 4 :573 (Published 04 December 1971) ...
Carolis disease)",. abstract = "A case of intra-hepatic cystic dilation (Carolis disease), a rare entity, in a 17 year old ... Rao, P. L.N.G. ; Pathak, I. C. ; Datta, D. V. / Choledochal cyst associated with intra hepatic cysts (Carolis disease). In: ... Choledochal cyst associated with intra hepatic cysts (Carolis disease). / Rao, P. L.N.G.; Pathak, I. C.; Datta, D. V. ... Rao, P. L. N. G., Pathak, I. C., & Datta, D. V. (1978). Choledochal cyst associated with intra hepatic cysts (Carolis disease) ...
Autosomal recessive polycystic kidney disease 314. Congenital hepatic fibrosis 314. Caroli disease 316 ... A new, fully updated edition of the worlds most famous book on liver diseases-with updating of all areas and inclusion of new ... vascular diseases of the liver and portal vein thrombosis, and nutrition in liver disease. Digital downloads of the figures ... Sherlocks Diseases of the Liver and Biliary System, 13th Edition is an ideal primer in hepatology for students and trainees in ...
Concomitant renal or liver disease. None. None. Caroli disease. Caroli disease, ARPKD. None. ... Three of five cases had other disease associations, including Joubert syndrome, Caroli disease, polycystic kidney disease, and ... the larger intrahepatic bile ducts are affected in patients with Caroli disease. Many cases with combined features of Caroli ... The associations between CHF and related ductal plate malformation entities such as Caroli disease, Von Meyenburg complex (bile ...
Adult polycystic disease, 314. Congenital hepatic fibrosis, 316. Carolis disease, 318. Microhamartoma (von Meyenberg complexes ... Epidemiology of non-alcoholic fatty liver disease, 549. Pathogenesis of non-alcoholic fatty liver disease and non-alcoholic ... Clinical and biochemical presentations of drug-induced liver disease, 488. Assessment of suspected drug-induced liver disease, ... Sherlocks Diseases of the Liver and Biliary System, 12th Edition. James S. Dooley (Editor), Anna Lok (Editor), Andrew K. ...
Genetic Diseases, Inborn. Caroli Disease. Orofaciodigital Syndromes. Disease. Pathologic Processes. Urologic Diseases. Kidney ... Digestive System Diseases. Lung Diseases. Respiratory Tract Diseases. Infant, Newborn, Diseases. Breast Diseases. Skin Diseases ... Hypothalamic Diseases. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Ciliopathies. Pancreatic ... Kidney Diseases. Polycystic Kidney Diseases. Bardet-Biedl Syndrome. Cystic Fibrosis. Fibrocystic Breast Disease. Polycystic ...
Condition or disease Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis Carolis Disease Polycystic ... Genetic Diseases, Inborn. Ciliopathies. Caroli Disease. Oculocerebrorenal Syndrome. Coma. Orofaciodigital Syndromes. Disease. ... Kidney Diseases. Polycystic Kidney Diseases. Apraxias. Bardet-Biedl Syndrome. Laurence-Moon Syndrome. Alstrom Syndrome. Cogan ... Urologic Diseases. Kidney Diseases, Cystic. Abnormalities, Multiple. Congenital Abnormalities. Psychomotor Disorders. ...
Genetic Diseases, Inborn. Ciliopathies. Caroli Disease. Oculocerebrorenal Syndrome. Coma. Orofaciodigital Syndromes. Disease. ... Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis Carolis Disease Polycystic Kidney Disease Joubert ... Nervous System Diseases. Signs and Symptoms. Hypothalamic Diseases. Brain Diseases. Central Nervous System Diseases. ... Medullary Cystic Kidney Disease Joubert Syndrome Caroli Disease Joubert Syndrome With Oculorenal Anomalies Situs Inversus COACH ...
Genetic Diseases, Inborn. Caroli Disease. Orofaciodigital Syndromes. Disease. Pathologic Processes. Urologic Diseases. ... Pancreatic Diseases. Digestive System Diseases. Lung Diseases. Respiratory Tract Diseases. Infant, Newborn, Diseases. Breast ... Hypothalamic Diseases. Brain Diseases. Central Nervous System Diseases. Nervous System Diseases. Ciliopathies. ... Condition or disease Hepato/Renal Fibrocystic Disease Autosomal Recessive Polycystic Kidney Disease Joubert Syndrome Bardet ...
Autosomal Recessive Polycystic Kidney Disease. *Congenital Hepatic Fibrosis. *Carolis Disease. *Polycystic Kidney Disease ... Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping ... Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: ... Banks N, Bryant J, Fischer R, Huizing M, Gahl WA, Gunay-Aygun M. Pregnancy in autosomal recessive polycystic kidney disease. ...
Carolis disease. *Celiac disease. *Cholangiocarcinoma (bile duct cancer). *Chronic gastrointestinal bleeding. *Cirrhosis ... in gastroenterology and hepatology at Mayo Clinic have deep experience treating people with a wide range of diseases and ...
Genetic Diseases, Inborn. Ciliopathies. Coma. Caroli Disease. Disease. Pathologic Processes. Urologic Diseases. Kidney Diseases ... Condition or disease Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis Carolis Disease Polycystic ... Nervous System Diseases. Signs and Symptoms. Hypothalamic Diseases. Brain Diseases. Central Nervous System Diseases. ... Medullary Cystic Kidney Disease Joubert Syndrome Caroli Disease Joubert Syndrome With Oculorenal Anomalies Situs Inversus ...
  • In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable pain. (wikipedia.org)
  • In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable, excruciating pain. (wikipedia.org)
  • Sufferers may experience frequent infections, blockage of the biliary tract, and impaired kidney function as a result of the disease, which causes dilation of the bile ducts located inside the liver. (wisegeek.com)
  • With Caroli disease, the ducts within the liver, which are typically rather small in diameter, increase in size. (wisegeek.com)
  • Where many other hepatology textbooks provide detailed accounts of basic science and clinical management, Sherlock's Diseases of the Liver and Biliary System, 13th Edition takes a different approach. (wiley.com)
  • This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials. (clinicaltrials.gov)
  • Clinical features of ciliopathies include fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. (clinicaltrials.gov)
  • Based on the patient's clinical presentation, these studies are performed at diagnosis and are repeated as appropriate during the disease course. (medscape.com)
  • Videoendoscopic, intrabronchial inoculation leads to very consistent clinical and pathological findings in all inoculated animals and is, therefore, well-suited for use in models of infectious lung disease. (jove.com)
  • We focused on prostate cancer since microscopic disease in men is common, but the incidence of clinical disease varies more than 100 fold worldwide. (jove.com)
  • Alzheimer's Disease Neuroimaging Initiative (ADNI) is a multisite study that aims to improve clinical trials for the prevention and treatment of Alzheimer's disease (AD). (wikipedia.org)
  • However, this is not as reliable a test as the serum creatinine level test, because BUN levels are also elevated in cases of intravascular depletion, increased protein intake, catabolism, and GI hemorrhage and may be reduced in chronic liver disease. (medscape.com)
  • Hepatitis B (and D) also cause chronic liver disease. (bidmc.org)
  • Many chronic human diseases are of unclear origin, and persist long beyond any known insult or instigating factor. (jove.com)
  • Such analysis regimen has to be conducted at several times after initiation of the disease in order to prove the chronic nature of the model. (jove.com)
  • She suffers from Caroli disease, and documented her experiences in The Chronic Illness Experience: Embracing the Imperfect Life. (wikipedia.org)
  • The greatest risk factor is high total exposure to ultraviolet radiation from the Sun. Other risks include prior scars, chronic wounds, actinic keratosis, lighter skin, Bowen's disease, arsenic exposure, radiation therapy, poor immune system function, previous basal cell carcinoma, and HPV infection. (wikipedia.org)
  • The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined. (wikipedia.org)
  • In most cases, the simple or isolated form of Caroli disease is believed to result from a spontaneous genetic change (mutation) that occurs for unknown reasons (sporadic). (rarediseases.org)
  • In contrast, the more complex form of Caroli disease appears to be inherited as an autosomal recessive genetic trait. (rarediseases.org)
  • Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. (rarediseases.org)
  • Caroli disease is a rare inherited genetic disorder that causes the body's biliary system to develop abnormally. (wisegeek.com)
  • Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. (clinicaltrials.gov)
  • In recent studies, insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the 'ureteric bud-metanephric mesenchyme' interface. (wikipedia.org)
  • Although there is considerable effort to distinguish the 2 forms of the disease, for obvious genetic reasons, there are cases, in the young, in which the imaging features of the 2 forms are present in the same child, making it impossible to allocate confidently the disorder to a particular category. (appliedradiology.com)
  • The third genetic locus, yet unmapped, is a rare cause of the disease. (appliedradiology.com)
  • 1 Although the pathogenesis of IBD remains unknown, it is described as a multifactorial disease that involves both genetic and environmental components. (jove.com)
  • Zebrafish have become a widely used model organism to investigate the mechanisms that underlie developmental biology and to study human disease pathology due to their considerable degree of genetic conservation with humans. (jove.com)
  • Choi BI, Yeon KM, Kim SH, Han MC (1990) Caroli disease: central dot sign in CT. (springer.com)
  • Thomsen's disease: an autosomal dominant myotonia of voluntary muscles described by Julius Thomsen about himself and his family members. (wikipedia.org)
  • Caroli disease is commonly diagnosed after this "central dot sign" is detected on a CT scan or ultrasound. (wikipedia.org)
  • An eponymous disease is a disease named after a person: usually the physician who first identified the disease or, less commonly, a patient who suffered from the disease. (wikipedia.org)
  • Autoeponyms may use either the possessive or non-possessive form, with the preference to use the non-possessive form for a disease named for a physician who first described it and the possessive form in cases of a disease named for a patient (commonly, but not always, the first patient) who had the particular disease. (wikipedia.org)
  • Imaging studies play a major role in the diagnosis of Caroli disease. (medscape.com)
  • A diagnosis of Caroli disease is typically made on the basis of imaging studies. (wisegeek.com)
  • we describe a case of pure form Caroli' s disease involving both hepatic lobes, in which both US (detection of fibrovascular bundles inside the cystic lesions) and MRCP (demonstration of the communication of the multiple cyst with biliary tree) allowed a noninvasive diagnosis. (eurorad.org)
  • The use of CT after injection of a cholangiographic contrast medium has been suggested as an additional means to achieve a firm diagnosis of Caroli' s disease . (eurorad.org)
  • No potentially curative treatment exists except surgery, but most people have advanced stage disease at presentation and are inoperable at the time of diagnosis. (wikipedia.org)
  • Diagnosis of de novo immune hepatitis (dnIH) after liver transplantation relies on biopsy findings, with an abundance of plasma cells (PCs) in the inflammatory infiltrates a hallmark of the disease. (biomedcentral.com)
  • In adults, the features of ADPD, a confirmed family history of the disease and its imaging features make its diagnosis relatively easy. (appliedradiology.com)
  • the disease, though, is not compatible with longevity and is not a likely diagnosis in this case. (appliedradiology.com)
  • The NNNS is a noninvasive neonatal assessment tool with demonstrated validity as a predictor, not only of medical outcomes such as cerebral palsy diagnosis, neurological abnormalities, and diseases with risks to the brain, but also of developmental outcomes such as mental and motor functioning, behavior problems, school readiness, and IQ. (jove.com)
  • In order to study human acute lung injury and pneumonia, it is important to develop animal models to mimic various pathological features of this disease. (jove.com)
  • This clinically relevant animal model is suitable for studying pathology, mechanism of repair, following acute lung injury, and also can be used to test potential therapeutic agents for this disease. (jove.com)