نتایج جستجو برای: inherited abnormality
تعداد نتایج: 176765 فیلتر نتایج به سال:
Studies of normotensive offspring of hypertensive parents offer the potential to identify inherited abnormalities that contribute to essential hypertension. We compared renal and systemic hemodynamic responses to saline infusion between normotensive sons of two hypertensive parents (SOHT) and sons of two normotensive parents (SONT) selected from the general population of Rochester, Minn. Hemody...
Brugada syndrome (BrS) is an inherited sodium channelopathy, which can precipitate malignant ventricular arrhythmias and sudden cardiac death [1]. Characteristic electrocardiographic features without underlying structural heart disease make the diagnosis, and certain drugs can unmask the abnormality on electrocardiography (ECG). While sinus tachycardia is a known side effect of cannabis use, Br...
Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period with neurological symptoms, including generalized seizures, which are refractory to anticonvulsant treatment. In this disorder, the basic abnormality is the defective intestinal absor...
Hypertrophic cardiomyopathy is an inherited heart muscle disease with an estimated prevalence in the adult population of 1:500. Owing to the autosomal dominant nature of this disease, persons who have a parent with hypertrophic cardiomyopathy have a 50 % risk of inheriting the mutation. From the genetics point of view, the disease is highly variable with respect to the specific gene mutation an...
Basal cell carcinomas, the most common human tumors, generally appear sporadically and in small numbers. Rarely, they may appear in great numbers and at an earlier age as a manifestation of the basal cell nevus syndrome, an autosomal dominant inherited disorder. Drawing on the retinoblastoma paradigm, we have begun a search for tumor suppressor genes important in the development of basal cell c...
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by both neurological and systemic abnormalities. We examined the peripheral immune system and found widespread evidence of innate immune activation detectable in plasma throughout the course of HD. Interleukin 6 levels were increased in HD gene carriers with a mean of 16 years before the predicted onset of clinic...
Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth which is result of faulty development of membranous bones. This condition may be inherited or transmitted as dominant characteristics in either sex, or even may appear spontaneously. It presents with a wide range of features, characterized by clavicular aplasia or hypoplasia, short stature, supernumerary teeth. Oth...
Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising from largely unknown cellular and molecular mechanisms. In generalized epilepsy with febrile seizures plus, an autosomal dominant epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) ...
Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albin...
Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders ...
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