• Andersen-Tawil syndrome is a genetic disorder which in the majority of cases is caused by mutations in the KCNJ2 gene. (wikipedia.org)
  • Type 1 Andersen-Tawil, accounting for about 60% of cases, is caused by mutations in the KCNJ2 gene. (wikipedia.org)
  • In type 2 Andersen-Tawil, accounting for about 40% of cases, a KCNJ2 mutation is not identified. (wikipedia.org)
  • Mutations in the KCNJ2 gene cause about 60 percent of all cases of Andersen-Tawil syndrome. (medlineplus.gov)
  • Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the skeletal changes and other physical abnormalities often found in Andersen-Tawil syndrome. (medlineplus.gov)
  • In the 40 percent of cases not caused by KCNJ2 gene mutations, the cause of Andersen-Tawil syndrome is usually unknown. (medlineplus.gov)
  • 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)
  • 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)
  • 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)
  • Andersen-Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. (wikipedia.org)
  • The three predominant features of Andersen-Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an electrocardiogram (a long QT interval) and a tendency to abnormal heart rhythms, physical characteristics including low-set ears and a small lower jaw, and intermittent periods of muscle weakness known as hypokalaemic periodic paralysis. (wikipedia.org)
  • Andersen-Tawil syndrome is inherited in an autosomal dominant pattern. (wikipedia.org)
  • The three groups of features seen in this condition were first described in 1971 by Ellen Andersen, and significant contributions to its understanding were made by Rabi Tawil. (wikipedia.org)
  • Andersen-Tawil Syndrome classically comprises three groups of features: abnormal electrical function of the heart, hypokalemic periodic paralysis, and characteristic physical features, although some of those affected will not exhibit all aspects of the condition. (wikipedia.org)
  • Andersen-Tawil syndrome affects the heart by prolonging the QT interval, a measure of how long it takes the heart to relax after each heart beat. (wikipedia.org)
  • The ventricular tachycardia seen in Andersen-Tawil syndrome often takes a form known as bidirectional ventricular tachycardia. (wikipedia.org)
  • The physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, limbs and spine. (wikipedia.org)
  • The third key feature of Andersen-Tawil syndrome is intermittent muscle weakness. (wikipedia.org)
  • Two types of Andersen-Tawil syndrome have been described, distinguished by the genetic abnormality that is detected. (wikipedia.org)
  • Mutations in a related gene encoding a similar potassium ion channel, KCNJ5, have been identified in some of those with type 2 Andersen-Tawil, but in many cases a genetic mutation is not found. (wikipedia.org)
  • These changes disrupt the flow of potassium ions, leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. (wikipedia.org)
  • Andersen-Tawil syndrome increases the risk of abnormal heart rhythms by disturbing the electrical signals that are used to coordinate individual heart cells. (wikipedia.org)
  • Andersen-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. (medlineplus.gov)
  • The signs and symptoms of Andersen-Tawil syndrome vary widely, and they can be different even among affected members of the same family. (medlineplus.gov)
  • Andersen-Tawil syndrome is a rare genetic disorder. (medlineplus.gov)
  • Researchers believe that Andersen-Tawil syndrome accounts for less than 10 percent of all cases of periodic paralysis. (medlineplus.gov)
  • These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. (medlineplus.gov)
  • 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)
  • Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. (medscape.com)
  • Pellizzón OA, Kalaizich L, Ptácek LJ, Tristani-Firouzi M, Gonzalez MD. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. (medscape.com)
  • Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study. (modeldb.science)
  • Known conditions within this subgroup are: Andersen-Tawil syndrome, Birk-Barel syndrome, Cantú syndrome, Keppen-Lubinsky syndrome, Temple-Baraitser syndrome, Zimmerman-Laband syndrome and a very similar disorder called Bauer-Tartaglia or FHEIG syndrome. (qxmd.com)
  • Polycystic ovary syndrome (PCOS) is strongly associated with abdominal obesity and insulin resistance and effective approaches to nutrition (e.g., omega-3 fatty acids intake) might improve the cardiometabolic risk profile. (frontiersin.org)
  • Characterized by a series of manifestations of hyperandrogenemia, persistent anovulation, and ovarian polycystic changes ( 1 ), polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders that affects 5 to 10% of women of reproductive age ( 2 ). (frontiersin.org)
  • It is unknown whether these benefits extend to women with polycystic ovary syndrome (PCOS), in whom vascular function is typically impaired and sitting time is high. (lww.com)
  • Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in females of reproductive age, with a prevalence of 10% when using the broader Rotterdam criteria ( 1 ). (lww.com)
  • Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. (ageing-map.org)
  • The establishment of a long QT syndrome registry and the discovery of genetic mutations that cause long QT syndrome have greatly contributed to the understanding of this condition. (medscape.com)
  • Since the first report in 1991 of a deoxyribonucleic acid (DNA) marker in the short arm of chromosome 11, numerous studies have reported genetic mutations and molecular descriptions of ion channel abnormalities in long QT syndrome. (medscape.com)
  • Many causes of sudden death in the pediatric population are due to genetic heart disorders, which can lead to structural abnormalities (eg, hypertrophic cardiomyopathy) and arrhythmogenic abnormalities (eg, familial long QT syndrome ). (medscape.com)
  • Long QT syndrome is a genetically transmitted cardiac arrhythmia caused by ion channel protein abnormalities. (medscape.com)
  • This syndrome, once diagnosed by clinical profile, has been more clearly defined by specific genetic defects that cause ion channel abnormalities, resulting in a syndrome that predisposes to lethal cardiac arrhythmias. (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)
  • 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)
  • This, as in other forms of long QT syndrome, can lead to abnormal heart rhythms such as ventricular ectopy or ventricular tachycardia causing palpitations. (wikipedia.org)
  • Schwartz et al suggested incorporating clinical and electrocardiogram (ECG) findings in a probability-based diagnostic criteria for long QT syndrome. (medscape.com)
  • 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)
  • 9 mink skinners had decreases in nerve conduction, 5 fulfilled electrodiagnostic criteria and 4 fulfilled electrodiagnostic and clinical criteria (a positive Katz hand diagram) for carpal tunnel syndrome (CTS). (sjweh.fi)
  • BO and its clinical correlate bronchiolitis obliterans syndrome (BOS) affect up to 50-60% of patients who survive 5 yrs after surgery, irrespective of the type of transplant procedure 1 , 4 - 6 . (ersjournals.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)
  • 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)
  • At present, Dr. Andersen received an average rating of 5.0/5 from patients and has been reviewed 20 times. (sharecare.com)
  • The aim of this report is to explore the psychiatric manifestations and comorbidities in patients with Turner syndrome. (psychiatrist.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)
  • 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)
  • By studying other SARS and Middle East respiratory syndrome coronaviruses, it is hypothesized that patients with COVID‑19 may lack sufficient antiviral T‑cell responses, which consequently present with innate immune response disorders. (spandidos-publications.com)
  • 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)
  • It was determined the outbreak may have been pulmonary mycotoxicosis, or Organic Dust Toxic Syndrome (ODTS), which is an acute respiratory illness in workers who inhale dust from contaminated organic materials. (cdc.gov)
  • Inpatient treatment may be needed during the acute phase of Ganser syndrome. (medscape.com)
  • Restrict general activity to allow close observation during the acute phase of Ganser syndrome. (medscape.com)
  • Confirmed acute coronary syndrome. (bmj.com)
  • Recently, severe acute respiratory syndrome (SARS) coronavirus (CoV) 2 (SARS‑CoV‑2)‑causing CoV disease 2019 (COVID‑19) emerged in China and has become a global pandemic. (spandidos-publications.com)
  • The virus was first officially named the 2019 novel coronavirus (nCoV) by the World Health Organization (WHO) and subsequently termed 'severe acute respiratory syndrome CoV 2 (SARS-CoV-2)' by The International Committee on Nomenclature of Viruses. (spandidos-publications.com)
  • The virus primarily infects the respiratory tract, resulting in pneumonia, acute respiratory distress syndrome (ARDS) and other fatal complications, including acute kidney injury, coagulation dysfunction and shock, according to a published report ( 4 ). (spandidos-publications.com)
  • Mortality is high in acute aortic syndrome (AAS), which therefore requires early treatment. (revespcardiol.org)
  • Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. (wakehealth.edu)
  • Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. (bvsalud.org)
  • A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. (bvsalud.org)
  • Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. (medscape.com)
  • Jervell and Lang-Nielsen (JLN) syndrome is an autosomal recessive form of congenital long QT 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)
  • Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. (bvsalud.org)
  • Turner syndrome is named after Henry H. Turner, MD, who, in 1938, was one of the first doctors to report on this disorder in the medical literature. (psychiatrist.com)
  • She had a history of depression since 2015, and a medical history of seizure disorder, hypothyroidism, and Turner syndrome. (psychiatrist.com)
  • 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)
  • Excessive insulin level is not only a potential cause of hyperandrogenemia but also one of the high-risk factors leading to metabolic syndromes among those with PCOS ( 6 ). (frontiersin.org)
  • Somatic second hits in tumors cause MMR deficiency, testing for which is used to screen for Lynch syndrome in colorectal cancer and to guide selection for immunotherapy. (lu.se)
  • Studies 5 in the last 12 years show consistently more severe depressive symptoms in individuals with Turner syndrome than in previous years. (psychiatrist.com)
  • Methods: Ninety-seven urothelial (61 upper tract and 28 bladder) tumors diagnosed from 1980 to 2017 in carriers of Lynch syndrome-associated pathogenic MMR variants and their first-degree relatives (FDR) were analyzed by MMR protein immunohistochemistry, the MSI Analysis System v1.2 (Promega), and an amplicon sequencing-based MSI assay. (lu.se)
  • Embryonic tumors are especially common in these syndromes. (bvsalud.org)
  • Initial studies using monophasic action potentials have shown evidence of early after depolarizations (EADs) in congenital and acquired long QT syndrome. (medscape.com)
  • 1994). Request for Assistance in Preventing Organic Dust Toxic Syndrome . (cdc.gov)
  • Lee HB, Koenig T. A case of Ganser syndrome: organic or hysterical? (medscape.com)
  • A large number of studies in occupational epidemiology has shown that exposure to endotoxins increases the likelihood of organic dust toxic syndrome, chronic bronchitis, and asthma-like syndrome. (bmj.com)
  • Miller P, Bramble D, Buxton N. Case study: Ganser syndrome in children and adolescents. (medscape.com)
  • 5 Adolescents and adults with Turner syndrome are at risk for depression, and adulthood appears to be the period of highest risk. (psychiatrist.com)
  • Carpal tunnel syndrome (CTS) is an impairment of the median nerve at the wrist with symptoms including numbness, tingling, and pain in the radial part of the hand ( 1 ). (sjweh.fi)
  • Introduction: Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 or PMS2. (lu.se)
  • Long QT syndrome can be mistaken for palpitations, neurocardiogenic syncope, and epilepsy. (medscape.com)
  • Hereditary Breast and Ovarian Cancer syndrome (HBOC) carriers face complex decisions, which might affect their fertility and body image. (mdpi.com)
  • Therefore, we aimed to compare methods of MMR deficiency testing in Lynch syndrome-associated urothelial cancers. (lu.se)
  • Conclusion: Our results show that Lynch syndrome-associated urothelial cancers frequently had loss of MMR protein expression. (lu.se)
  • Data from this study alongside previous studies, suggest that universal MMR deficiency testing of newly diagnosed urothelial cancers, using immunohistochemistry and/or sequencing-based MSI analysis of sensitive markers, offer a potentially useful approach to identification of Lynch syndrome cases. (lu.se)
  • Dr. Andersen has experience treating conditions like Magnesium Metabolism Disorders and Mineral Metabolism Disorders among other conditions at varying frequencies. (sharecare.com)
  • To describe the intake frequencies of selected foods in participants with Prader-Willi syndrome (PWS), Down syndrome (DS), and Williams syndrome (WS), and investigate the association with body mass index (BMI). (foodandnutritionresearch.net)
  • 6 No defined psychiatric condition has been traditionally related to Turner syndrome, and it is not mentioned in the DSM-5 . (psychiatrist.com)
  • 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)
  • The reduction in the incidence of sudden infant death syndrome (SIDS) after the Back to Sleep campaign in the United States and other countries showed that sleep environment strongly influences the risk of SIDS, 1 2 although the underlying mechanisms remain poorly understood. (bmj.com)
  • Kaplan & Sadock's Synopsis of Psychiatry 7 only mention Turner syndrome as a side note on intersex conditions and not in any psychiatric context. (psychiatrist.com)
  • Individuals with Turner syndrome exhibit relatively normal verbal IQ, but they possess weaknesses in visual-spatial and executive areas of their cognitive profile. (psychiatrist.com)
  • Sigal M, Altmark D, Alfici S. Ganser syndrome: a review of 15 cases. (medscape.com)
  • Objectives To examine the association between use of a dummy (pacifier) during sleep and the risk of sudden infant death syndrome (SIDS) in relation to other risk factors. (bmj.com)