ankyloglossia (tongue-tie) is a congenital anomaly with a prevalence of 4-5% and characterized by an abnormally short lingual frenulum. for unknown reasons the abnormality seems to be more common in males. the pathogenesis of ankyloglossia is not known. the authors report a family with isolated ankyloglossia inherited as an autosomal dominant or recessive trait. the identification of the defect...

the polynomial interpolation in one dimensional space r is an important method to approximate the functions. the lagrange and newton methods are two well known types of interpolations. in this work, we describe the semi inherited interpolation for approximating the values of a function. in this case, the interpolation matrix has the semi inherited lu factorization.

A patient with hereditary angio-oedema (HAO) developed mesangiocapillary glomerulonephritis (MCGN) under observation. HAO is characterized by an inherited defect of complement-deficiency of C1 esterase. MCGN is often associated with another complement abnormality which leads to depression of serum C3 and there is some evidence that the complement abnormality precedes the nephritis. The coincide...

Finding an inherited complement abnormality in HSCT-associated TMA provides a rationale for the use of a complement inhibitor.Alternative complement inhibitors such as Coversin should be considered in patients who are resistant to eculizumab.

Background Hair is an ectodermal structure, and its formation is regulated by master genes important in embryology. Hair shaft consists of three major regions: the medulla, cortex and cuticle. Hair shaft abnormality will divide structural hair abnormalities into two broad categories - those associated with increased hair fragility and those not associated with increased hair fragility. We condu...

Secondary causes of thrombocytopenia as immunologic thrombopenia purpura, or ITP, are far more common than inherited causes, which even as a group, are rare. Nevertheless, diagnosis is important and progress made in uncovering the molecular basis of these disorders has contributed greatly to our knowledge of these diseases. Inherited thrombocytopenias are a heterogeneous group of disorders. Dif...

conclusions: we determined a significant higher frequency of protein s deficiency in patients with rpl compared with controls. but the frequency of protein c deficiency and the frequency of two common thrombophilic mutations (factor v leiden and prothrombin g20210a), were not significantly different between patients with recurrent miscarriage and healthy women. results: the mean functional acti...

Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions. In most of these disorders, a permeability barrier abnormality "drives" pathophysiology through stimulation of epidermal hyperplasia. Among primary abnormali...

Epilepsy is a common children's neural disease that is largely controlled by anti-epileptic drugs. Nevertheless, children experience repeated attacks that develop into intractable epilepsy (IE). The aim of the present study was to examine the inherited metabolic abnormalities in children with IE to provide early etiological and symptomatic treatment. Urine and blood samples of 56 children with ...

Brugada syndrome (BrS) is an inherited electrophysiological abnormality which typically manifests in patients with diverse ethnicities as ventricular arrhythmias or sudden cardiac death. The onset frequently unmasked by various precipitating factors including but not limited to febrile diseases. Severe acute respiratory (SARS) coronavirus 2 (SARS-CoV-2) infection and associated COVID-19 illness...