نتایج جستجو برای: proteus syndrome
تعداد نتایج: 626870 فیلتر نتایج به سال:
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore,...
A 28 year old female patient with Cushing's syndrome due to an adrenal adenoma also suffered from recurrent urinary infections (proteus), tonsillitis (streptococcus), permanent candidiasis and perimandibular abscess (Staphylococcus pyogenes). Suppression of cellular and humoral immunity was confirmed by in vitro tests. After successful right adrenalectomy the clinical signs of Cushing's syndrom...
A patient with Proteus syndrome is reported. He had hemihypertrophy, bilateral hypertrophy of the third fingers, skin anomalies, and varicosities, as well as mental retardation, seizures resistant to anticonvulsant treatment, and a very severe course with death at the age of 2 years.
Treatment of patients with refractory Hodgkin lymphoma is a significant issue. We report a patient with Proteus syndrome and relapsed Hodgkin lymphoma, whose remission was finally achieved after brentuximab vedotin therapy, allowing her to receive a haploidentical stem cell transplant. The possible relationship between both disorders was discussed.
Cowden syndrome (CS), also known as multiple hamartoma-neoplasia syndrome, is an autosomal dominant disease with numerous possible clinical manifestations. Commonly present are skin changes including acral keratoses and facial trichilemmomas, as well as oral papillomas and scrotal tongue. There is an increased risk of malignancies including breast, thyroid, and endometrial cancers. Hamartomas m...
Intestinal polyposis syndromes comprise of a group of diseases conditioned by the occurrence of hereditary mutations. In the Polish DNA bank of hereditary predisposition to polyposis we collected DNA samples derived from persons from families with a diagnosed adenomatous polyposis including familial adenomatous polyposis coli together with its recessive form, Turcot’s syndrome, inherited mixed ...
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