hypertrichosis/febbre

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The role of community pharmacists in the management of hematopoietic stem cell transplant recipients: knowledge and training.

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BACKGROUND The patients receiving hematopoietic stem cell transplantation (HSCT) require routine management: the role of the pharmacist has not been extensively considered. This study had 2 aims: to explore the knowledge of community pharmacists relating to pediatric HSCT and to evaluate their

[Immunosuppression with cyclosporin after orthoptic liver transplant in pigs].

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The immunosuppressive effect of cyclosporine A (CsA) was studied in six pigs that underwent orthotopic liver transplant (OLT). The drug was administered i.v. in low doses (1.5-4 mg/Kg-1/12 h-1) and associated with wide spectrum antibiotics. The mean survival of the animals was 23.4 +/- 11.2 days.

[Successful treatment of POEMS syndrome with high-dose chemotherapy and autologous peripheral blood stem cell transplantation].

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A 42-year-old woman presented with pericardial and pleural effusion, ascites and para-aortic lymphadenopathy of unknown etiology. Six months later she was admitted with fever, pain and motor disturbance of lower limbs, and exacerbation of the effusion, ascites and edema. Physical examination showed

Michelin Tire Baby Syndrome: A Rare Case with Review of Literature.

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Michelin tire baby syndrome (MTBS) is a benign hamartomatous condition with ring-like lesions present on the limbs and trunk. MTBS is a rare genodermatosis. According to our search, only 20 cases have been reported. We present a case of a six-month-old female child, with complaints of fever and

Choice, Transparency, Coordination, and Quality Among Direct-to-Consumer Telemedicine Websites and Apps Treating Skin Disease.

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Evidence supports use of teleconsultation for improving patient access to dermatology. However, little is known about the quality of rapidly expanding direct-to-consumer (DTC) telemedicine websites and smartphone apps diagnosing and treating skin disease. To assess the performance of DTC

Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

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Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

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The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height.To report the

Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

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Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

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OBJECTIVE Atypical forms of diabetes may be caused by monogenic mutations in key genes controlling beta-cell development, survival and function. This report describes an insulin-dependent diabetes patient with a syndromic presentation in whom a homozygous SLC29A3 mutation was

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