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*  Sickle cell syndromes - Renal and Urology News
SCT is not a disease. There are over 300 million people who are carriers. Their life span is normal. There is a small risk of ... Hemoglobin SC (sickle cell) disease refers to a double heterozygote for S and C mutations ... It commonly occurs in patients with undetected aneurysms in the circle of Willis and internal carotid arteries. Genitourinary ... Early detection may prevent its progression. Orthopedic complications are common, including bone infarction, osteomyelitis, and ...
  https://www.renalandurologynews.com/hematology/sickle-cell-syndromes/article/597594/
*  Disorders of sterol synthesis
Both parents are asymptomatic carriers of the enzyme deficiency.. Fever episodes in MVA/HIDS are mostly spontaneous, observing ... Abnormalities in Genes Linked to IRSP in Alzheimer Disease * Alzheimer Disease Biomarkers Expose Individuals to Long-Term Care ... The most commonly seen clinical features in MVA and HIDS follow:. MVA: cognitive and neurologic deficits and episodic ... More severely affected heterozygote females with X-linked Conradi-Hünermann syndrome (CDPX2) caused by a deficiency of sterol ...
  https://www.neurologyadvisor.com/pediatrics/disorders-of-sterol-synthesis/article/623866/
*  von Willebrand Disease - GeneReviews® - NCBI Bookshelf
Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF ... Heterozygotes (carriers) of type 3 VWD are often asymptomatic. However, 15%-50% may show some mild bleeding symptoms and may be ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the VWF pathogenic ... Treatments used most commonly were combined oral contraceptives, tranexamic acid, and desmopressin as first and second-line ...
  https://www.ncbi.nlm.nih.gov/books/NBK7014/
*  Autosomal Recessive Congenital Ichthyosis - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing is possible for at-risk family members once both ARCI-related pathogenic ... Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder. ... GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the ... Most affected individuals have pathogenic variants in ERCC2; less commonly this disorder is associated with pathogenic variants ...
  https://www.ncbi.nlm.nih.gov/books/NBK1420/
*  Week 2 - Module 4: Carrier Testing - University of California, San Francisco | Coursera
asymptomatic carriers who have no family history of a disease.. And again, as I mentioned, as there ... heterozygote screening usually for autosomal recessive disorders.. So, with these disorders, the carriers are usually ... the detection rate is also lower in the different ethnic groups.. So, what this means is if you do a carrier test in someone, ... And so, testing has historically targeted the commonly affected. groups, because it is less effective in non-target populations ...
  https://www.coursera.org/learn/genomic-precision-medicine/lecture/vJuMj/week-2-module-4-carrier-testing
*  Alpha-Thalassemias - ONA
A heterozygote for α+-thalassemia is asymptomatic with a mild anemia and microcytosis. Homozygotes for α+-thalassemia may have ... Hb H Disease. 25. -α/-- or --/ααcs. Chronic hemolytic anemia. Hb Barts 20-40% (HbCS present). HbH 5-30%. ... Detection of deletions or mutations in the α chain genes is absolutely confirmatory of an alpha-thalassemia. Alpha-thalassemias ... Globin chain synthesis analysis can identify alpha-thalassemia carriers without clear-cut test results using hemoglobin ...
  https://www.oncologynurseadvisor.com/labmed/alpha-thalassemias/article/612126/
*  Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome | JACC: Journal of the American College of...
We identified 1 heterozygote deletion in KCNQ1 and 2 heterozygote deletions involving KCNH2 in 3 unrelated patients. No CNVs ... CNV detection in LQTS genes. In this study, we evaluated the involvement of CNVs in KCNQ1, KCNH2, and SCN5A genes in patients ... 1992) The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 327:846-852. ... A) The disease phenotype is transmitted as an autosomal-dominant trait. Open symbols depict unaffected members; solid symbols, ...
  http://www.onlinejacc.org/content/57/1/40
*  Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Takahashi et al.37 examined the neopterin and biopterin levels in the cerebrospinal fluid of asymptomatic carriers and revealed ... Symptoms observed in compound heterozygote also might be caused by depletion of serotonin due to a marked decrease of BH4 (see ... However, asymmetry of symptoms and female predominance are commonly observed without any relation to the age of onset. Table 3 ... Phenotypical Variation Clarified after Detection of the Causative Gene Focal dystonia: writer's cramp, guitarist's finger ...
  https://www.docme.ru/doc/1904133/autosomal-dominant-guanosine-triphosphate-cyclohydrolase-...
*  Werner Syndrome - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the WRN pathogenic ... Although systematic clinical studies have not been reported, heterozygotes (carriers) are asymptomatic and do not appear to be ... Review Glycogen Storage Disease Type I[GeneReviews®. 1993]. Review Glycogen Storage Disease Type I. Bali DS, Chen YT, Austin S ... Though bilateral ocular cataracts (probably presenting as posterior subcapsular cataracts) are one of the most commonly ...
  https://www.ncbi.nlm.nih.gov/books/NBK1514/
*  Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf
... of genetic aHUS progresses to end-stage renal disease (ESRD). ... Carrier (Heterozygote) Detection. Carrier testing for at-risk ... Heterozygotes (carriers) are usually asymptomatic. Rare cases of heterozygotes developing aHUS in adulthood have been reported ... Distinguishing aHUS from cobalamin C disease. Cobalamin C disease is associated with pathogenic variants in MMACHC. It is ... amino-acid changes or premature translation terminations that primarily cluster in the C-terminus domains and are commonly ...
  https://www.ncbi.nlm.nih.gov/books/NBK1367/
*  Pheochromocytoma/paraganglioma - Cancer Therapy Advisor
PET imaging is superior to MIBG in regards to PGLs or metastatic disease, and is more commonly being used over MIBG in the ... However, penetrance is low among SDHB mutation carriers, with only 45% of individuals having disease by age 40. ... It has a good sensitivity (93-100%) for detection of PHEOs, and while the sensitivity for the detection of extra-adrenal PGLs ... Age of initial screening for PHEO/PGL in asymptomatic children with known genetic mutation:*. MEN2: *. MEN2B due to RET ...
  https://www.cancertherapyadvisor.com/pediatrics/pheochromocytomaparaganglioma/article/620264/
*  Protocols and Video Articles Authored by Lei Cao (Translated to Japanese)
... such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis. In addition, we ... with A allele carriers has more atrophy than the minor allele G carriers in AD patients; lateral ventricle (both right and left ... Automatic Detection and Diagnosis of Lung Nodules on CT Images Based on LDA and SVM] Nan Fang Yi Ke Da Xue Xue Bao = Journal of ... In this study, we performed a meta-analysis to evaluate the association of two commonly studied PIN1 polymorphisms, -842G/C and ...
  https://www.jove.com/author/Lei_Cao?language=Japanese
*  Liver Disease and Pregnancy: Overview, Hyperemesis Gravidarum, Acute Fatty Liver of Pregnancy
Liver disease that occurs during pregnancy can present a challenge for health care providers. Certain liver diseases are ... One study demonstrated that up to 70% of patients with anti-HEV antibodies were asymptomatic, [84] likely reflecting prior HEV ... The diagnosis of hepatitis C is made with detection of the antibody to hepatitis C. The antibody may not be detected until 6-10 ... Commonly used laboratory values include platelet counts below 100,000/μL, serum aspartate aminotransferase (AST) levels above ...
  https://emedicine.medscape.com/article/188143-overview
*  PINK1 Type of Young-Onset Parkinson Disease - GeneReviews® - NCBI Bookshelf
The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa ... and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting ... PINK1 type of young-onset Parkinson disease is characterized by early onset (mean age 33 years) of tremor, bradykinesia, ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the PINK1 pathogenic ...
  https://www.ncbi.nlm.nih.gov/books/NBK26472/
*  Role of Orphan Nuclear Receptor DAX-1/NR0B1 in Development, Physiology, and Disease
... most commonly FLI1. Those fusion oncogenes have a pathogenetic role in the disease by regulating the transcription of specific ... Dax-1 inactivation does not compensate for the defects present in the testes of Sf-1 heterozygote mice but further impairs ... a primary testicular defect is present in DAX-1 mutation carriers, since in these subjects gonadotropin treatment is not able ... used for Dax-1 mRNA or protein detection and to the different animal species under study. Furthermore, it is possible that an ...
  https://www.hindawi.com/journals/ab/2014/582749/
*  Fundamentals of Human Genetics & Genomics | Current Medical Diagnosis & Treatment 2017 | AccessMedicine | McGraw-Hill Medical
... relationship certification and most commonly, detection of genetic susceptibilities to disease. The latter are almost entirely ... 4) Each offspring of two carriers has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of ... Two different mutant alleles at the same locus, as in HbS/HbC, form a genetic compound (compound heterozygote). The phenotype ... Whenever a person is shown to have a chromosome translocation-whether it is balanced and asymptomatic or unbalanced, causing a ...
  https://accessmedicine.mhmedical.com/content.aspx?bookid=1843§ionid=135760835
*  RAMR - Volumen 17, Número 1 - Curvas de supervivencia y permanencia en el programa de oxigenoterapia domiciliaria y ventilación...
... and the amount of heterozygote PIS and PIZ carriers is higher. Early AATD diagnosis is uncommon. It is difficult to draw ... De la Roza C, Rodríguez-Frías F, Lara B, Vidal R, Jardí R, Miravitlles M. Results of a case-detection program for alpha-1 ... Intermediate AAT deficiency is most commonly caused by MS and MZ phenotypes3. Clinically, it can be associated with emphysema, ... Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy. COPD 2013; 10(Suppl 1): 35-43. ...
  http://www.ramr.org/articulos/volumen_17_numero_1/articulos_originales/articulos_originales_alpha-1-antitrypsin_deficiency_screening_program_at_the_pneumonology.php
*  JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
... asymptomatic I (AD-I: serum negative/PCR+), asymptomatic II (AD-II: serum positive), oligosymptomatic (OD), and symptomatic (SD ... The G/C heterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p?=?0.05). ... Detection of assemblages A and B of Giardia duodenalis in water and sewage from São Paulo state, Brazil. ... Leishmaniasis is a disease caused by the protozoan Leishmania resulting in a variety of clinical manifestations, from self- ...
  https://www.jove.com/visualize?author=Rodrigo+P+P+Soares
*  Carlos Milla | Stanford Medicine Profiles
This includes the development of new diagnostic tools that permit the early detection of lung disease manifestations. ... They differentiate cystic fibrosis (CF) subjects from CF carriers and carriers from controls. However, evaporimetry, unlike ... The average ratio provides an approximately linear readout of CFTR function: the heterozygote ratio is ∼0.5 the control ratio ... Concentrations of cholesterol and triacylglycerol are commonly believed to be low in persons with cystic fibrosis and thus not ...
  https://med.stanford.edu/profiles/carlos-milla?tab=publications
*  Diagnostic approaches for inherited hemolytic anemia in the genetic era
It is very lucky to identify mutation(s) in the disease-associated gene in the initial trial. If not, a gene-by-gene approach ... Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. Int J ... Mild hemolysis can be asymptomatic, while the anemia in severe hemolysis can be life threatening and cause angina and ... Biochemical analysis of G6PD enzyme activity levels is commonly used to screen children with unexplained persistent jaundice [ ...
  http://www.bloodresearch.or.kr/journal/view.html?uid=2048&vmd=Full
*  X chromosome studies and breast and ovarian carcinoma - UBC Library Open Collections
For example, women with a mutated copy of HPRT are asymptomatic for the X-linked recessive disease, Lesch-Nyhan syndrome, 24 ... Factor Breast Cancer Ovarian carcinoma Non-carriers BRCA1 carriers Non-carriers BRCA1 carriers n/a ⇓ ⇓ Late Menarche Early ... The most commonly used assay to measure XCI skewing exploits the fact that the CpG islands of most X-linked genes will be ... For detection of the probe, 40 µl of a mixture of 1 µg of anti-Digoxigenin-Fluorescein Fab Fragments (Roche Diagnostics, ...
  https://open.library.ubc.ca/cIRcle/collections/ubctheses/24/items/1.0066174
*  CHAPTER 119 HEREDITARY QUALITATIVE PLATELET DISORDERS | Free Medical Textbook
... von Willebrand Disease Glycoprotein Ia/IIa (a2b1; VLA-2; CD49b/CD29) GPIV (CD36) GPVI Abnormal Membrane-Cytoskeletal ... Carriers of Glanzmann thrombasthenia appear to be asymptomatic and generally have normal results in platelet function tests,6, ... it has been termed both pseudo-von Willebrand disease and platelet-type von Willebrand disease.. ETIOLOGY AND PATHOGENESIS. A ... Peretz H, Seligsohn U, Zwang E, Coller BS, Newman PJ: Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi- ...
  https://medtextfree.wordpress.com/2012/02/09/chapter-119-hereditary-qualitative-platelet-disorders/
*  LRRK2-Related Parkinson Disease - GeneReviews® - NCBI Bookshelf
LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of ... Testing of asymptomatic individuals younger than age 18 years who are at risk for adult-onset disorders for which no treatment ... LRRK2-related PD is defined by the presence of a pathogenic variant in LRRK2; thus the variant detection rate approaches 100% ... Less commonly, pallidotomy (or, rarely, fetal brain transplant to the caudate nucleus) may also provide benefit [Esselink et al ...
  https://www.ncbi.nlm.nih.gov/books/NBK1208/
*  In vivo characterization of caspase resistant huntingtin : insights into the pathogenic mechanism of Huntington disease - UBC...
Striatal D l and D2 dopamine receptor loss in asymptomatic mutation carriers of Huntington's disease. Ann Neurol 40:49-54. ... Founder mice were identified by PCR detection of Y A C L Y A , R Y A , C A , AG, and C A G PCR in a procedure described ... heterozygote lines (Lin et al., 2001) . This is in sharp contrast to reports comparing human HD heterozygotes and homozygote ... 1.4.3 Role in transcription Htt contains polyglutamine and polyproline tracts which are features commonly observed in proteins ...
  https://open.library.ubc.ca/cIRcle/collections/ubctheses/831/items/1.0092837