Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 43 year old female sickle cell anaemia patient who had a mild clinical course of the disease developed ascending paralysis, areflexia, sensory disturbance and bulbar affectation while on therapy with vitamin B12 for neurological complications of megalobalstic anaemia. She had initially presented with a history of paresthesia involving all extremities and moderate pain in both feet. Blood smear picture revealed macro-ovalocytosis and hyper-segmented neutrophils. Cerebrospinal fluid analysis revealed protein of >200mg %, WBC <5/mm3-predominatly lymphocytes and was negative for cytology and Gram stain. This is the first case report of Guillain- Barre syndrome in a sickle cell anaemia patient.
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PMID:Guillain-Barre syndrome in a haemoglobin S patient. 1674 46

Essentiality of zinc for humans and its deficiency was recognized in 1963. During the past 50 years, it has become apparent that deficiency of zinc in humans is prevalent. Nutritional deficiency of zinc may affect nearly 2 billion subjects in the developing world. Consumption of cereal proteins high in phytate decreases the availability of zinc for absorption. Conditioned deficiency of zinc is also very common. Growth retardation, hypogonadism in males, rough skin, impaired immunity, neuro-sensory disorder and cognitive impairment are some of the clinical manifestations of zinc deficiency. Zinc is involved in many biochemical functions. Over 300 enzymes require zinc for their activation and nearly 2000 transcription factors require zinc for gene expression. Zinc is essential for cell mediated immunity. Zinc is also an effective antioxidant and anti-inflammatory agent. In therapeutic dosages, zinc has been used for the treatment of acute diarrhea in infants and children, common cold, Wilson's disease, sickle cell disease and for prevention of blindness in patients with age related macular degeneration.
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PMID:Discovery of human zinc deficiency: 50 years later. 2266 33

Hearing impairment (HI) is a common sensory disorder that is defined as the partial or complete inability to detect sound in one or both ears. This diverse pathology is associated with a myriad of phenotypic expressions and can be non-syndromic or syndromic. HI can be caused by various genetic, environmental, and/or unknown factors. Some ontologies capture some HI forms, phenotypes, and syndromes, but there is no comprehensive knowledge portal which includes aspects specific to the HI disease state. This hampers inter-study comparability, integration, and interoperability within and across disciplines. This work describes the HI Ontology (HIO) that was developed based on the Sickle Cell Disease Ontology (SCDO) model. This is a collaboratively developed resource built around the 'Hearing Impairment' concept by a group of experts in different aspects of HI and ontologies. HIO is the first comprehensive, standardized, hierarchical, and logical representation of existing HI knowledge. HIO allows researchers and clinicians alike to readily access standardized HI-related knowledge in a single location and promotes collaborations and HI information sharing, including epidemiological, socio-environmental, biomedical, genetic, and phenotypic information. Furthermore, this ontology illustrates the adaptability of the SCDO framework for use in developing a disease-specific ontology.
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PMID:The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. 3176 82