نتایج جستجو برای: inherited abnormality

تعداد نتایج: 176765  

2011
Captain Rasto Osadsky

While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proxim...

2016
Koki Hoshi Atsushi Irisawa Goro Shibukawa Akane Yamabe Mariko Fujisawa Ryo Igarashi Ai Sato Takumi Maki

Agenesis of the gallbladder, a rare anomaly, is generally regarded as an organogenic failure. Several reports suggest that this congenital defect is inherited but that supposition remains controversial. We described agenesis of the gallbladder in identical twins. A 21-year-old female presented with a history of acute pain in the epigastrium and right hypochondrium. Various imaging modalities sh...

Journal: :Annals of dermatology 2011
Jihyun Kim Mi Ri Kim Hee Jung Kim Kyung-A Lee Min-Geol Lee

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...

Journal: :Diabetes Care 2008
Juraj Staník Mark Lethby Sarah E. Flanagan Daniela Gašperíková Beata Milošovičová Margaret Lever Hilary Bullman Lejla Zubcevic Andrew T. Hattersley Sian Ellard Frances M. Ashcroft Iwar Klimeš

OBJECTIVE Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities are the most common cause. RESEARCH DESIGN AND METHODS We report a sporadic case of diabetes wi...

Journal: :Clinical science and molecular medicine 1976
N B Myant D Reichl G R Thompson M J Higgins D J Galton

1. The metabolism in vivo and in vitro of an abnormal low-density lipoprotein (LDL) obtained from a patient with an inherited form of hypercholesterolaemia was compared with that of LDL obtained from a normal subject. 2. The rates of turnover of the apoprotein of the two types of LDL in a normal subject, and their uptake and catabolism by normal lymphocytes in vitro, were similar. 3. It is conc...

2014
John Kern Margaret Duffy Corinne Kern Victor Mazza

Introduction. Congenital long QT syndrome type 2 (LQTS2) is a rare inherited cardiac abnormality resulting in increased risk of polymorphic ventricular tachycardia (PVT). Case Description. A 21-year-old postpartum female presented with syncopal episode after phone alarm. She was noted to have PVT on telemetry monitoring in the emergency department. EKG revealed QTc of 530. The patient's only me...

Journal: :Trends in neurosciences 2000
D J Blake S Kröger

Several forms of inherited muscular dystrophy are associated with brain abnormalities and cognitive impairment. One of the most common and severe of these diseases is Duchenne muscular dystrophy (DMD). Dystrophin, the product of the DMD gene, is found in neurones, where it is associated with the postsynaptic membrane. Cognitive impairment in individuals with DMD is thought to be due to an abnor...

Journal: :Archives of neurology 2012
Anjail Z Sharrief Joel Raffel David S Zee

OBJECTIVE To describe a case of vitamin B(12) deficiency with classic and rare clinical features and novel radiographic features. DESIGN Case report. SETTING Johns Hopkins Hospital neurology service. PATIENT Middle-aged man with neuropathy, myelopathy,impaired cognition, and extrapyramidal signs. RESULTS The patient had neurologic and hematologic signs of vitamin B(12) deficiency, with ...

Journal: :American Journal of Clinical and Experimental Medicine 2021

Originally marketed under the brand name Neurontin, anticonvulsant drug gabapentin has become one of most widely prescribed—and controversial—drugs in America. On market for nearly three decades, been prescribed everything from chronic cough to pain and hot flashes bipolar disorder; but is it real deal, or just brain-child aggressive marketing, false advertising, wishful thinking? This critical...

Journal: :iranian journal of child neurology 0
joseph g. gleeson

abstract objective the last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. however, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. common geneti...

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