نتایج جستجو برای: poikiloderma with neutropenia syndrome
تعداد نتایج: 9376087 فیلتر نتایج به سال:
We investigated the role of a mutation of the CXCR4 gene in 11-year-old twin sisters with WHIM syndrome. The mutated gene may result in production of the mutant CXCR4 protein causing abnormal apoptosis and migratory function, which are thought to be related to the cause of chronic neutropenia in WHIM syndrome.
Felty’s syndrome (FS) is a rare disease defined by the presence of 3 conditions: rheumatoid arthritis (RA), neutropenia, and splenomegaly 1. It has been subdivided into two entities, depending on the presence or absence of large granular lymphocyte (LGL) leukaemia. LGL leukaemia is diagnosed by identifying a T cell clone with typical LGL morphology and phenotype in blood or bone marrow smears. ...
Poikiloderma vasculare atrophicans (PVA) is a rare poikilodermatous variant of early-stage mycosis fungoides characterized by generalized poikiloderma, atrophy, mottled dyspigmentation, and telangiectasia. In 2001, a 14-year-old male presented with asymptomatic brownish-gray polymorphic macules throughout the body with flexural accentuation. A skin biopsy showed increased melanophages with foca...
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-nega...
Background: Childhood nephrotic syndrome is frequently characterized by a relapsing course. Due to their adverse effects, the use of corticosteroids for the management of frequently relapsing nephrotic syndrome is limited. Levamisole, a steroid sparing agent, has been found to have low toxicity. This study was conducted to evaluate the efficacy of levamisole in steroid-sensitive nephrotic syndr...
background:chemotherapy-induced neutropenia as a major toxicity of systemic chemotherapy is commonly associated with substantial mortality and morbidity, and thus identifying its determinants is necessary. this study was undertaken to identify main risk factors of severe neutropenia following adjuvant chemotherapy treatment in a community-based population of patients with cancer in semnan, iran...
Background: Many aspects of the severe acute respiratory syndrome coronavirus 2 (SARSCoV2) pandemic in 2019 have been unclear, especially newborns, and reports neonatal diseases are usually associated with perinatal infection. Objectives: The purpose this study was to evaluate clinical para-clinical manifestations newborns that contracted infection after birth. Methods: This observational resea...
A patient with pancreatic insufficiency and cyclical neutropenia is described who also has evidence of hepatic dysfunction. He and 3 other patients whose findings are given emphasize the wide range of abnormalities seen in this syndrome.
We describe the previously unreported finding of reproducible arterial d desaturation after successive injections of granulocyte colony stimulating factor in a orthotopic liver transplant recipient with the adult respiratory distress syndrome and antibiotic-induced neutropenia.
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