نتایج جستجو برای: os trigonum syndrome
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We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56(bright)CD16- cytokine-producing NK cells after treatment with steroids for skin rash.
BACKGROUND Othello syndrome (OS) is an organic delusional disorder with prevailing jealousy symptoms presumably appearing as side effect of antiparkinsonian therapy. The clinical spectrum of psychiatric symptoms in Parkinson's disease (PD) is very wide, including symptoms of depression and anxiety, hallucinations, delusions, with prevalent paranoid symptoms, agitation, delirium and sleep disord...
The basic virtual memory-mapped communication (VMMC) model provides protected, direct communication between the sender's and receiver's virtual address spaces, but it does not support high-level connection-oriented communication APIs well. This paper presents VMMC-2, an extension to the basic VMMC. We describe the design, implementation , and evaluate the performance of three mechanisms in VMMC...
Mutations in the MID1 gene are causally linked to X-linked Opitz BBB/G syndrome (OS), a congenital disorder that primarily affects the formation of diverse ventral midline structures. The MID1 protein has been shown to function as an E3 ligase targeting the catalytic subunit of protein phosphatase 2A (PP2A-C) for ubiquitin-mediated degradation. However, the molecular pathways downstream of the ...
Hypomorphic RAG mutations, leading to limited V(D)J rearrangements, cause Omenn syndrome (OS), a peculiar severe combined immunodeficiency associated with autoimmune-like manifestations. Whether B cells play a role in OS pathogenesis is so far unexplored. Here we report the detection of plasma cells in lymphoid organs of OS patients, in which circulating B cells are undetectable. Hypomorphic Ra...
This report illustrates the usefulness and safety of very early hemispherotomy in an infant with Ohtahara syndrome (OS) secondary to left parieto-occipital megalencephaly. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery.
Background: Trastuzumab in combination with chemotherapy has long been established as a standard treatment for HER2-positive patients in early stage breast cancer (BC). The present study aimed at assessing the effectiveness of trastuzumab adjuvant therapy in early stage BC in overall survival (OS) and disease-free survival (DFS). Methods: A systematic review and meta-analysis was ...
introduction: this paper used generalized gamma (gg) distribution to find the predictive factors of overall survival (os) after haematopoietic stem cell transplant (hsct) in acute myeloid leukemia patients. methods: discrimination among the exponential, weibull, gg, log-logistic, and lognormal distributions was done using maximum likelihood and akaike information criteria. results: the 5-year ...
BACKGROUND Alveolar hypoxia is the most important mechanism leading to pulmonary arterial vasoconstriction, remodelling and pulmonary hypertension. Patients with Obstructive Sleep Apnoea Syndrome (OSAS) experience multiple short periods of alveolar hypoxia during apnoeic episodes. However, the question as to whether these hypoxic episodes are responsible for the development of permanent pulmona...
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