AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceHealth Care
Andersen SyndromeAir MicrobiologySyndromeAerosolsHypokalemic Periodic ParalysisParalyses, Familial PeriodicParalysisParalysis, Hyperkalemic PeriodicThyrotoxicosisNADH Tetrazolium ReductaseEncyclopedias as TopicTurner SyndromeMosaicismKaryotypingSex Chromosome AberrationsChromosomes, Human, XOxandroloneLong QT SyndromeElectrocardiographyKCNQ1 Potassium ChannelCongenital Disorders of GlycosylationEther-A-Go-Go Potassium ChannelsSyncopeArrhythmias, Cardiac
KCNJ2AcutePotassiumDiagnosisMutationsCHROMOSOMEClinicalIrritable bowel syGeneticAtrial fibrillationCongenitalAbnormalitiesChronicDiseaseMutationSymptomaticPrevalenceCardiacDysmorphicHospitalized patients with COVID-19SymptomsHyperPPForm of periodic paralysisFamilialPaediatric2000Deletion syndromeBehavioralBilateral salpingo-oopDisordersAdolescentTurnerVentricularDisorder characterizedVariantsWorkupInflammationPeriodic paralysisHypothyroidismHeterozygousDiagnosticLongCorrelationCliniciansLynchSpectrumCancer
KCNJ26
  • Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. (nih.gov)
  • This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene. (nih.gov)
  • The open-access article is titled "Bioelectric Signaling Via Potassium Channels: A Mechanism for Craniofacial Dysmorphogenesis in KCNJ2-Associated Andersen-Tawil Syndrome. (bioquicknews.com)
  • Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. (yale.edu)
  • Phenotype variability in patients carrying KCNJ2 mutations. (cdc.gov)
  • Patients with Andersen-Tawil syndrome (ATS) mostly have mutations on the KCNJ2 gene producing loss of function or dominant-negative suppression of the inward rectifier K(+) channel Kir2.1. (modeldb.science)
Acute14
  • Patients with persistent ST segment elevation or acute Q wave myocardial infarction, and those with alternative diagnoses, exit from this guideline and should be managed appropriately. (bmj.com)
  • Patients with a suspected acute coronary syndrome should be observed, with repeat 12 lead ECG recording, during symptoms if the opportunity arises. (bmj.com)
  • Patients with a confirmed acute coronary syndrome should be admitted to a cardiac care unit or high dependency unit with continuous ECG rhythm monitoring. (bmj.com)
  • Confirmed acute coronary syndrome. (bmj.com)
  • Patients who have had ischaemic ECG changes, or cardiac troponin release or raised CK-MB enzyme demonstrated at any time during admission, have a confirmed acute coronary syndrome. (bmj.com)
  • Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. (qxmd.com)
  • One of the acute presentations is Löfgren's syndrome (LS), consisting of the symptom triad of bilateral hilar lymphadenopathy, erythema nodosum, and ankle periarthritis. (mdpi.com)
  • Acute coronary syndromes (ACS) is closely associated with chronic low-grade inflammation and gut microbiome composition. (researchsquare.com)
  • The coronavirus disease 2019 (COVID-19) pandemic constitutes a persistent threat caused by the novel single-stranded RNA β coronavirus, severe acute respiratory syndrome 2 virus (SARS-CoV-2). (spandidos-publications.com)
  • Neurological manifestations were among the last identified, as initial attention focused on the severe acute respiratory syndrome (SARS) and digestive symptoms, with the virus appearing, initially, to spare the nervous system. (spandidos-publications.com)
  • Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
  • Acute lymphoblastic leukaemia in Noonan syndrome. (lu.se)
  • Acute lymphoblastic leukemia and down syndrome: 6-mercaptopurine and methotrexate metabolites during maintenance therapy. (cancercentrum.se)
  • Polygenic risk score-analysis of thromboembolism in patients with acute lymphoblastic leukemia. (cancercentrum.se)
Potassium5
  • Patients with ATS have a mutation in the gene that codes for the potassium ion channel protein Kir2.1, a crucial piece of cell machinery that maintains cells' electrical charge by regulating the flow of positively charged potassium ions into and out of cells. (bioquicknews.com)
  • Patients can have a high, low, or normal serum potassium level. (msdmanuals.com)
  • Electrifying dysmorphology': Potassium channelopathies causing dysmorphic syndromes. (qxmd.com)
  • Anyone will become weak in response to a drastic change in serum potassium levels, but PP patients may respond to small changes in potassium levels as if they were major shifts. (hkpp.org)
  • These 3 potassium channel variants are the "genetic mirror image" of long QT syndrome type 2, type 1 and Andersen-Tawil syndrome respectively because they exert opposite gain-of-function effects on the potassium channels in contrast to the loss-of-function of the potassium channels in the long QT syndromes. (viamedica.pl)
Diagnosis10
  • Patients often report years of wrong diagnosis and treatments that made them worse instead of better. (wikipedia.org)
  • A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism. (medscape.com)
  • Findings on physical examination usually do not indicate a diagnosis of LQTS, although some patients may present with excessive bradycardia for their age, and some patients may have hearing loss (congenital deafness), indicating the possibility of Jervell and Lange-Nielsen syndrome. (medscape.com)
  • LQT diagnosis was based on the clinical examination of patients, which was performed according to guidelines issued by the Danish Cardiology Society [ 6 ] by specialists in cardiology from Danish cardiology departments at Rigshospitalet, Skejby Hospital, Aalborg Hospital, Gentofte Hospital, Haderslev Hospital and Odense Hospital. (biomedcentral.com)
  • We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
  • However, a clinical diagnosis of Meigs' syndrome remains challenging because pleural and ascitic effusions can be common findings in a variety of underlying conditions. (biomedcentral.com)
  • Finally, a definitive diagnosis of Meigs' syndrome was made by confirming the presence of a benign mitotically active cellular fibroma of the ovary by pathology and that pleural effusion resolved following tumor resection. (biomedcentral.com)
  • Thus, a correct diagnosis is often postponed, and appropriate patient treatment is delayed in cases of potential malignant ovarian tumors in terms of systemic tumor cell dissemination. (biomedcentral.com)
  • Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. (rarediseases.org)
  • unreliable and unavailable commercially in most of the world [ 1 ], thus evaluation of A total of 19 patients were identified as appropriate specimens by smear and culture having a culture-proven diagnosis of remains the principal method of diagnosis. (who.int)
Mutations6
  • Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by mutations in the DNA mismatch repair genes MLH1 , MSH2 , MSH6 and PMS2 . (biomedcentral.com)
  • Somatic missense mutations in cancer-related genes were detected in three IHES patients. (oncotarget.com)
  • Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (lu.se)
  • Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. (lu.se)
  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
  • Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (lu.se)
CHROMOSOME1
Clinical13
  • 17. Jens Juhl Otte & Jens Rikardt Andersen: The clinical value of faecal bile acid determination in patients with chronic diarrhoea of unknown origin. (ku.dk)
  • A history of cardiac events is the most typical clinical presentation in patients with LQTS. (medscape.com)
  • Thauvin-Robinet-Faivre syndrome is a recently described overgrowth syndrome with typical facial dysmorphic and clinical features. (bvsalud.org)
  • Reporting two new cases with this rare autosomal recessive overgrowth syndrome with a novel FIBP gene variant will support and expand the clinical spectrum of Thauvin-Robinet-Faivre syndrome. (bvsalud.org)
  • For more information on the doctor and patient care, please visit the clinical profile . (utsouthwestern.edu)
  • Our case highlights the clinical importance of assessing Meigs' syndrome in the diagnostic workup of pleural effusion in postmenopausal female patients. (biomedcentral.com)
  • Meigs' syndrome (MS) is an uncommon disorder characterized by the clinical triad of presentations including, benign ovarian tumor, ascites, and pleural effusion (PE), which disappear after tumor resection [ 1 ]. (biomedcentral.com)
  • The clinical characteristics and disease evolution seem to be similar to those observed in Guillain‑Barré syndrome secondary to other etiologies. (spandidos-publications.com)
  • The new clinical report, Cardiac Care, is now added to the company's established clinical portfolio, Gene Impetus, that emphasizes medically actionable panels generated from genomic data to enable proactive approach to preventive health and risk management and to provide evidence-based guidance to both patients and healthcare providers on cardiovascular conditions. (diagnomics.com)
  • As such, Diagnomics prioritizes the clinical actionability of the Cardiac Care report to help physicians and patients understand the effect of the genetic components of these diseases in order to promote quality of care and employ effective preventive measures. (diagnomics.com)
  • The new Cardiac Care report will feature over 110 genes from clinical databases spanning across more than 30 different cardiovascular conditions, ranging from cardiomyopathies to rare forms of long QT syndromes such as Andersen-Tawil and Jervell-Lange Nielsen syndromes. (diagnomics.com)
  • Patient data were used from a randomised controlled trial investigating the effects of a comprehensive clinical pharmacist intervention. (kb.se)
  • Pending external validation, this score can aid in clinical identification of high-risk patients and targeting of interventions. (kb.se)
Irritable bowel sy7
  • 13. Susanne Arffman, Jens Rikardt Andersen, Jens Hegnhøj, Ove Schaffalitzky de Muckadell, Nicolaj Borg Mogensen & Einar Krag: The effect of coarse wheat bran in irritable bowel syndrome. (ku.dk)
  • This review provides an updated overview of observational and intervention studies investigating the effect of a low-FODMAP (fermentable oligo-, di- and monosaccharides, and polyols) diet (LFD) on gastrointestinal (GI) symptoms, quality of life (QoL), nutritional adequacy, and gut microbiome in irritable bowel syndrome (IBS) patients. (springer.com)
  • Irritable bowel syndrome (IBS) is a very common disorder, but it doesn't have to be. (primehealthdenver.com)
  • What is irritable bowel syndrome (IBS)? (primehealthdenver.com)
  • Irritable bowel syndrome (sometimes called spastic colon ) is a large intestine disorder. (primehealthdenver.com)
  • What are the symptoms of irritable bowel syndrome? (primehealthdenver.com)
  • How do you feel when you have irritable bowel syndrome? (primehealthdenver.com)
Genetic6
  • Tufts University biologists, and colleagues, have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to preventive measures and treatments, not only for ATS, but also for a host of other disorders, from birth defects to cancer. (bioquicknews.com)
  • T urner syndrome is a genetic syndrome that can present with a plethora of physical and psychiatric manifestations. (psychiatrist.com)
  • VKH disease occurs more commonly in patients with a genetic predisposition to the disease, including those from Asian, Middle Eastern, Hispanic, and Native American populations. (medscape.com)
  • The genetic diagnostic work is centred in five University cardiology clinics and patients are offered a five-gene screen of the most frequently affected genes, KCNQ1 , KCNH2 , SCN5A , KCNE1 and KCNE2 . (biomedcentral.com)
  • Dr. Andersen further described AN as "a syndrome that blossoms when predisposing features are acted upon by specific precipitating factors, which then sustained by a combination of biomedical and psychosocial factors… Recently, the list of predisposing factors has been shown to include genetic vulnerabilities, primarily the serotoninergic system. (eatingdisordersreview.com)
  • This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)
Atrial fibrillation2
  • Currently, flecainide is mostly used for sinus rhythm maintenance in atrial fibrillation patients without structural cardiomyopathy although recent studies enrolling different patient population demonstrated a good effectiveness and safety profile. (encyclopedia.pub)
  • The patient had a history of chronic atrial fibrillation, hypertension, and chronic kidney disease (CKD) of uncertain etiology. (biomedcentral.com)
Congenital7
  • Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (medscape.com)
  • Skeletal abnormalities, such as short stature and scoliosis are seen in the LQT7 type (Andersen syndrome), and congenital heart diseases, cognitive and behavioral problems, musculoskeletal diseases, and immune dysfunction may be seen in those with LQT8 type (Timothy syndrome). (medscape.com)
  • Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth syndrome characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. (bvsalud.org)
  • CHARGE syndrome is a common congenital anomaly. (ochsnerjournal.org)
  • 2 , 3 In 1981, after reviewing the cases of 21 children, Pagon et al first proposed the diagnostic criteria for CHARGE syndrome to describe the nonrandom association of ocular coloboma (C), congenital heart defects (H), choanal atresia or stenosis (A), central nervous system/developmental anomalies (R), genital hypoplasia (G), and ear anomalies (E). 4 Since then, several cases and updates have been published. (ochsnerjournal.org)
  • CHARGE syndrome is a common congenital anomaly with an estimated incidence of 1:12,000, and a prevalence of 1:10,000. (ochsnerjournal.org)
  • Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without structural heart disease that has a dominant autosomal or sporadic pattern of transmission affecting the electric system of the heart. (viamedica.pl)
Abnormalities8
  • Patients with ATS may also have skeletal abnormalities like scoliosis (curvature of the spine), webbing between the second and third toes or fingers (syndactyly), crooked fingers (clinodactyly), a small jaw (micrognathia) and low-set ears. (wikipedia.org)
  • Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. (medscape.com)
  • Furthermore, a percentage of females with Turner syndrome have extra folds of skin on the neck, a low hairline at the back of the neck, puffiness of the hands and feet, and skeletal abnormalities in addition to their short stature. (psychiatrist.com)
  • Abnormalities in quality of life and cognitive measures have been observed in women with Turner syndrome, and a relationship between these phenomena and chromosomal constitution has been suggested. (psychiatrist.com)
  • Either short femora or short extremities with or without other ultrasonographic abnormalities were demonstrated in five patients antenatally. (bvsalud.org)
  • Independently, Vogt, Koyanagi, and Harada described several patients during a 20-year period with bilateral uveitis , exudative retinal detachments, neurologic abnormalities, and disorders of the integument. (medscape.com)
  • (12,13) Studies found that hospitalized patients with COVID-19 may have coagulation abnormalities including increased D-dimer concentration, a modest decrease in platelet count, and a prolongation of the prothrombin time. (cdc.gov)
  • Patients without these findings must have diffuse choroidal thickening-as seen using ultrasonography-with fluorescein angiographic abnormalities, including focal areas of delayed choroidal perfusion, multifocal pinpoint leakage, areas of placoid hyperfluorescence, pooling of subretinal fluid, and optic nerve staining. (medscape.com)
Chronic4
  • 15. Jens Hegnhøj, Ove Schaffalitzky de Muckadell, Jes Lauritzen, Jens Rikardt Andersen & Erik Magid: Duodenal output and concentration of lactoferrin in chronic pancreatitis: Correlation to amylase secretion and duct morphology. (ku.dk)
  • The chronic sleep disturbance and musculoskeletal pain common in FMS patients aligns with the restless nights that the fairy tale attributes to royal hypersensitivity. (kinfolk.com)
  • Burning mouth syndrome (BMS) is a chronic orofacial pain condition that mainly affects postmenopausal women. (frontiersin.org)
  • Followup study on the mortality and the development of leukemia in 44 pancytopenic patients with chronic benzene exposure. (cdc.gov)
Disease18
  • Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
  • The association between pulmonary sequelae and markers of disease severity, as well as pro-fibrotic mediators, were studied in 108 patients 3 months after hospital admission for COVID-19. (uib.no)
  • Several human leukocyte antigen (HLA) associations have been found in patients with VKH disease, including HLA-DR4, HLA-DR53, and HLA-DQ4. (medscape.com)
  • Despite differences in their patients, the manifestations appeared to represent a spectrum of disease, and several authors suggested that the disorder should be termed Vogt-Koyanagi-Harada syndrome (see the image below). (medscape.com)
  • Bilateral, multifocal serous detachments in a patient with Vogt-Koyanagi-Harada disease. (medscape.com)
  • Patients with complete VKH disease also must have evidence of neurologic and auditory manifestations, as well as integumentary signs. (medscape.com)
  • Incomplete VKH disease: Patients with incomplete VKH disease have either neurologic and auditory manifestations or integumentary signs, but not both. (medscape.com)
  • Probable VKH disease: Patients with probable VKH disease include those with isolated ocular disease. (medscape.com)
  • The patients were 70 Danish LQTS probands from unrelated families where mutation screening in the five LQTS associated genes KCNQ1 , KCNH2 , KCNE1 , KCNE2 and SCN5A had led to the identification of a disease-causing mutation. (biomedcentral.com)
  • Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. (utsouthwestern.edu)
  • However, approximately 50% of the patients will develop frequent disease relapses ( 1 ). (biochemia-medica.com)
  • Meigs' syndrome is a rare disease characterized by a triad of presentations, including benign ovarian tumor, ascites, and pleural effusion. (biomedcentral.com)
  • Guillain‑Barré syndrome is a heterogeneous disease that frequently follows a bacterial or viral infection. (spandidos-publications.com)
  • Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease. (lu.se)
  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (lu.se)
  • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. (lu.se)
  • and advancements in science in developed countries have made it possible for people affected by this syndrome to live longer, but an extended life span has brought with it Alzheimer's disease (AD), which exacerbates the cognitive decline in these individuals. (bvsalud.org)
  • Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients. (lu.se)
Mutation1
  • In recent years, the mutation analysis has been performed by bi-directional Sanger sequencing of coding regions and all previous patients have been reanalysed. (biomedcentral.com)
Symptomatic3
  • Patients become symptomatic around the age of 10. (wikipedia.org)
  • This study aimed to establish the prevalence of H. pylori infection in symptomatic patients and its relationship with various risk factors specially smoking, alcohol and socioeconomic status. (iabcr.org)
  • A prospective cross-sectional study was done in symptomatic patients undergoing gastroduodenoscopy, to assess the prevalence of H. pylori and its associated risk factors in a tertiary care hospital of South Delhi. (iabcr.org)
Prevalence1
  • 10. Rastogi M, Rastogi D, Singh S, Agarwal A, Priyadarshi BP, Middh T: Prevalence of Helicobacter pylori in asymptomatic adult patients in a tertiary care hospital: A cross sectional study. (iabcr.org)
Cardiac6
  • Patients with unstable angina or non-Q wave myocardial infarction should have their cardiac prognosis assessed by estimation of their risk of death or further cardiac events. (bmj.com)
  • these patients are also in a category at high risk of further cardiac events. (bmj.com)
  • Those patients with unstable angina or non-Q wave myocardial infarction whose condition has stabilised, but who are at high risk of death or further cardiac events , should be referred for coronary angiography. (bmj.com)
  • Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. (biomedcentral.com)
  • Patients present clinically with a spectrum of signs and symptoms including irregular palpitations due to episodes of paroxysmal atrialfibrillation, dizziness and fainting (syncope) and/or sudden cardiac death due to polymorphic ventricular tachycardia and ventricular fibrillation. (viamedica.pl)
  • We are excited to launch Gene Impetus - Cardiac Care as an effective panel for healthcare providers and their patients to screen for cardiovascular conditions," Min Seob Lee, Ph.D., Chairman of Diagnomics commented. (diagnomics.com)
Dysmorphic1
  • Herein, two new cases of Thauvin-Robinet-Faivre syndrome are reported with overgrowth, intellectual disability, typical dysmorphic signs in one dysplastic kidney, and a novel homozygous FIBP gene variant. (bvsalud.org)
Hospitalized patients with COVID-191
  • Data were published in the literature regarding neuromuscular complications and neurological manifestations which were frequently described among hospitalized patients with COVID-19 ( 1 , 2 ). (spandidos-publications.com)
Symptoms9
  • Part of this may be that migraines are present in up to 50% of patients and can cause a confusing array of symptoms including headaches, speech difficulties and visual, auditory or sensory auras. (wikipedia.org)
  • Studies 5 in the last 12 years show consistently more severe depressive symptoms in individuals with Turner syndrome than in previous years. (psychiatrist.com)
  • In patients whose symptoms and condition have become stable after initial treatment, this assessment should include stress testing. (bmj.com)
  • We systematically searched available literature until October 2020 for studies that investigated the effect of LFDs on GI symptoms, QoL, nutritional adequacy, and the gut microbiome in IBS patients. (springer.com)
  • Many patients also try diets like the gluten-free and lactose-free diet to relieve symptoms [ 19 ]. (springer.com)
  • Due to non-specific symptoms and signs, many patients with MS are initially referred to general practitioners. (biomedcentral.com)
  • A total of 70 patients with upper gastrointestinal symptoms were included in the study. (iabcr.org)
  • It is almost sad to see IBS patients "treated" with pharmaceuticals that temporarily mask some symptoms and bring about all sorts of adverse side effects. (primehealthdenver.com)
  • At PrimeHealth, we run SIBO tests for all our patients with IBS since SIBO is a common cause of its symptoms. (primehealthdenver.com)
HyperPP1
  • The middle line represents an iop range that will di erentiate primary hypokalemic periodic paralysis hyperpp andersen awil syndrome a ter he was prescribed azithromycin for a fib, decrease dose mg kg every hours in premature infants or infants who fail pharmacologic interventions. (gec-group.com)
Form of periodic paralysis3
  • Andersen-Tawil syndrome (Online Mendelian Inheritance in Man (OMIM): 170390), a form of periodic paralysis that includes significant heart rhythm problems, fainting and risk of sudden death. (wikipedia.org)
  • Patients need to have another form of periodic paralysis to have the Andersen-Tawil. (wikipedia.org)
  • In patients with ATS, the hypokalemic form of periodic paralysis should have the highest propensity to VA especially during physical activities. (modeldb.science)
Familial2
  • E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
  • Dr. Andersen notes, "AN is a prototype of disorders of motivated behavior, all of which serve as a final common pathway for a variety of developmental, familial, intrapsychic, and societal conflicts. (eatingdisordersreview.com)
Paediatric3
  • The aim of this study was to investigate lipoprotein particle distributions and the likelihood of achieving cholesterol homeostasis in the remission phase of nephrotic syndrome (NS) in paediatric patients. (biochemia-medica.com)
  • Favourable changes in the serum lipid profiles, HDL particle subclass distribution and cholesterol metabolism in paediatric patients with NS during remission took place. (biochemia-medica.com)
  • It is an idiopathic condition in paediatric patients characterized by proteinuria, hypoalbuminemia, oedema and hyperlipidaemia ( 1 ). (biochemia-medica.com)
20001
  • In his article, "Anorexia Nervosa: Curious Past, Hopeful Future (EDR, January/February 2000)", Dr. Andersen wrote, "Anorexia nervosa (AN) has a history as interesting as the Cheshire cat's smile: now you see it, now you don't. (eatingdisordersreview.com)
Deletion syndrome1
  • A missing copy of this segment causes a related chromosomal condition called 17q12 deletion syndrome . (medlineplus.gov)
Behavioral1
  • In contrast, few studies have systematically evaluated the presence of mood and behavioral syndromes in these women. (psychiatrist.com)
Bilateral salpingo-oop2
  • Prophylactic hysterectomy with bilateral salpingo-oophorectomy (H-BSO) was similarly included for women diagnosed with Lynch syndrome. (biomedcentral.com)
  • Repetitive negative cytological results allowed the patient to undergo bilateral salpingo-oophorectomy. (biomedcentral.com)
Disorders2
  • Overgrowth syndromes consist of a wide spectrum disorders characterized by prenatal and postnatal excess growth in weight and length, often associated malformations, intellectual disability, and neoplastic predisposition. (bvsalud.org)
  • Patients with severe eating disorders are at very high risk for this complication, given their state of malnutrition. (acute.org)
Adolescent1
  • Marked prolongation of QT interval in a 15-year-old male adolescent with long QT syndrome (LQTS) (R-R = 1.00 s, QT interval = 0.56 s, QT interval corrected for heart rate [QTc] = 0.56 s). (medscape.com)
Turner20
Ventricular2
  • Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. (cdc.gov)
  • Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study. (modeldb.science)
Disorder characterized2
  • Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. (bvsalud.org)
  • Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. (nih.gov)
Variants1
  • Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. (bvsalud.org)
Workup2
  • [ 2 ] Treatment of PJP may be initiated before the workup is complete in severely ill high-risk patients. (medscape.com)
  • A high index of suspicion is essential in susceptible patients presenting with pulmonary infiltrate, cerebral abscess or deep soft-tissue abscess and usually requires an active diagnostic workup and early administration of appropriate therapy. (who.int)
Inflammation1
  • (13) One study that compared markers of inflammation in patients with and without COVID-19 observed modestly lower leukocyte, lymphocyte, and platelet counts and higher hemoglobin values in patients with COVID-19. (cdc.gov)
Periodic paralysis1
  • If a patient has hypo or hyper periodic paralysis they have a 50% chance of getting Andersen-Tawil. (wikipedia.org)
Hypothyroidism1
  • In 2013, she presented to the BronxCare Endocrinology and Obstetrics and Gynecology Clinic and was found to have minimal complications thus far with no cardiovascular issues, sensorineural hearing impairment, hypothyroidism, or metabolic syndrome but definitely was at risk for osteopenia base on dual-energy x-ray scan. (psychiatrist.com)
Heterozygous1
  • A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. (bvsalud.org)
Diagnostic3
  • An increased corrected QT (QTc) interval in response to standing up ("response to standing" test), which is associated with increased sympathetic tone, can provide more diagnostic information in patients with LQTS. (medscape.com)
  • A decision analytic model was developed which simulated diagnostic and long-term outcomes over a lifetime horizon for colorectal cancer patients with and without Lynch syndrome and for relatives of those patients. (biomedcentral.com)
  • A thorough understanding of the idiopathic hypereosinophilic syndrome (IHES) and further optimization of diagnostic work-up procedures are warranted. (oncotarget.com)
Long3
  • Frequent flyers" can take a long time to load - the truly complicated patient, or the full-blown hypochondriac. (opendiary.com)
  • When Dr. Arnold Andersen, a long-time EDR board member, wrote about anorexia nervosa more than 15 years ago, he was well ahead of the times. (eatingdisordersreview.com)
  • 1972. Details of blood changes in 32 patients with pancytopenia associated with long-term exposure to benzene. (cdc.gov)
Correlation2
  • 16. Hanne Tønnesen, Lissie Hejberg, Steen Frobenius & Jens Rikardt Andersen: Erythrocyte mean cell volume - correlation to drinking pattern in heavy alcoholics. (ku.dk)
  • We present the detailed CT findings for children with CHARGE syndrome and the correlation of the CT findings with audiograms. (ochsnerjournal.org)
Clinicians2
  • Progress has been made in many aspects of the background science that will help clinicians in their management of patients presenting with the condition. (routledge.com)
  • Given the favorable prognosis of Meigs' syndrome, clinicians should consider surgical resection, even with potentially malignant ovarian tumors with accompanying pleural effusion, ascites, or both. (biomedcentral.com)
Lynch9
  • Individuals with Lynch syndrome have an increased risk of colorectal cancer, endometrial cancer, ovarian and other cancers. (biomedcentral.com)
  • Lynch syndrome remains underdiagnosed in the UK. (biomedcentral.com)
  • Reflex testing for Lynch syndrome in early-onset colorectal cancer patients is proposed as a method to identify more families affected by Lynch syndrome and offer surveillance to reduce cancer risks, although cost-effectiveness is viewed as a barrier to implementation. (biomedcentral.com)
  • The objective of this project was to estimate the cost-utility of strategies to identify Lynch syndrome in individuals with early-onset colorectal cancer in the NHS. (biomedcentral.com)
  • Biennial colonoscopic surveillance was included for individuals diagnosed with Lynch syndrome and accepting surveillance. (biomedcentral.com)
  • All strategies included for the identification of Lynch syndrome were cost-effective versus no testing. (biomedcentral.com)
  • Reflex testing for Lynch syndrome in early-onset colorectal cancer patients is predicted to be a cost-effective use of limited financial resources in England and Wales. (biomedcentral.com)
  • Research is recommended into the cost-effectiveness of reflex testing for Lynch syndrome in other associated cancers and into the impact of prophylactic H-BSO on HRQoL. (biomedcentral.com)
  • Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome. (lu.se)
Spectrum1
  • 5 , 17 , 18 , 25 , 27 These chromodomain helicase DNA (CHD) binding proteins affect a large number of developmental pathways, resulting in the varied phenotypic spectrum observed in CHARGE syndrome. (ochsnerjournal.org)
Cancer2
  • 4-6 Families adhering to the classical definition of the syndrome include those in which one subject, usually the proband, is diagnosed with a sarcoma before 45 years of age, and has a first degree relative with cancer before 45 years of age, and another first or second degree relative in the same parental lineage with any cancer diagnosed under 45 years of age or with sarcoma at any age. (bmj.com)
  • Before the 1980s, fewer than 100 cases of PJP were reported annually in the United States, occurring in patients who were immunosuppressed (eg, cancer patients receiving chemotherapy and solid-organ transplant recipients receiving immunosuppressants). (medscape.com)