AIM To determine the phenotypes and predominant disease-causing mutations in Lebanese patients with Wilson's disease, as compared to regional non-European data. METHODS The clinical profile of 36 patients diagnosed in Lebanon was studied and their mutations were determined by molecular testing. All patients underwent full physical exam, including ophthalmologic slit-lamp examination ultrasoun...

hereditary motor sensory neuropathies (hsmn/cmt) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. hsmn/cmt is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. clinical presentations, gene mutati...

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...

many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. early detection of mutation carriers in these genes, in turn, can play an import...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

black forest horses are typically chestnut colored with flaxen mane and tail. however, as their coat color can get very dark, they are sometimes also indicated as silver, a color depending on a black base color. to analyse if the silver allele is present in the black forest horse population, we genotyped 250 horses of this breed for formerly reported coat color mutations within mc1r and silv. a...

and predominant lower motor neuron involvement, which has been confirmed pathologically. In contrast, other FUS mutations present more frequently with flail arm syndrome or with typical limb or bulbar onset ALS. Our patient with juvenile-onset ALS, an R521C missense mutation, and a flail leg presentation represents an unusual combination. FUS mutations should be assessed in young patients who p...

Precision medicine depends on the accurate identification of actionable mutations in a tumor sample. It is unknown how heterogeneous the distribution of such mutations can be in a tumor. Morphological (i.e. histopathological) heterogeneity is well described in lung adenocarcinoma and has been specifically recognized in the most recent official clinico-pathological classification. The most predo...

Currently all the axiom systems for probability representation include the assumption that the ordering of events is total. However, empirical systems exist for which this condition is too strong. In particular, there may exist events A l , A2 in an algebra A for which the ordering is not connected; i.e., it is not possible to judge with complete confidence whether Al $A A2 or One approach to d...