Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gaucher disease is the most common of the glycolipid storage disorders caused by the deficiency of glucocerebrosidase, an enzyme which hydrolyzes glucocerebroside to glucose and ceramide. Accumulation of the substrate leads to multiorgan dysfunction involving the brain, spleen, liver, lymph node and bone marrow. In anesthetic management, gastroesophageal reflux leading to recurrent aspiration, pancytopenia and airway difficulties due to trismus, neck extension and upper airway infiltration with glucocerebroside must be considered. We report a case of a 9-year-old boy presenting developmental delay, mild pancytopenia, splenomegary gastroesophageal reflux. He was scheduled for measurement of intra-esophageal pressure, total splenectomy and Nissen fundoplication. Preoperative examination showed trismus and opisthotonic posturing. We predicted difficult airway maintenance and assessed his airway with airway radiograph. Airway narrowing was not shown. For this difficult airway, we made a special mask that has an introducer port for fiberbronchoscope. For the first time, we tried to insert a laryngeal mask, but the insertion was difficult due to trismus and narrowed oral cavity. Then, we used this special mask for the next time. Tracheal intubation was much safer by using this mask for fiberoptic intubation. In Gaucher disease, preoperative assessment of airway difficulties and preparation for this situation are necessary and anesthesiologist must be concerned about aspiration and airway difficulties.
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PMID:[Anesthetic management involving difficult intubation in a child with Gaucher disease]. 949 2

In this study, we perform a full genome-wide association study (GWAS) to identify statistically significantly associated single nucleotide polymorphisms (SNPs) with three red blood cell (RBC) components and follow it with two independent PheWASs to examine associations between phenotypic data (case-control status of diagnoses or disease), significant SNPs, and RBC component levels. We first identified associations between the three RBC components: mean platelet volume (MPV), mean corpuscular volume (MCV), and platelet counts (PC), and the genotypes of approximately 500,000 SNPs on the Illumina Infimum DNA Human OmniExpress-24 BeadChip using a single cohort of 4,673 Northern Nevadans. Twenty-one SNPs in five major genomic regions were found to be statistically significantly associated with MPV, two regions with MCV, and one region with PC, with p<5x10-8. Twenty-nine SNPs and nine chromosomal regions were identified in 30 previous GWASs, with effect sizes of similar magnitude and direction as found in our cohort. The two strongest associations were SNP rs1354034 with MPV (p = 2.4x10-13) and rs855791 with MCV (p = 5.2x10-12). We then examined possible associations between these significant SNPs and incidence of 1,488 phenotype groups mapped from International Classification of Disease version 9 and 10 (ICD9 and ICD10) codes collected in the extensive electronic health record (EHR) database associated with Healthy Nevada Project consented participants. Further leveraging data collected in the EHR, we performed an additional PheWAS to identify associations between continuous red blood cell (RBC) component measures and incidence of specific diagnoses. The first PheWAS illuminated whether SNPs associated with RBC components in our cohort were linked with other hematologic phenotypic diagnoses or diagnoses of other nature. Although no SNPs from our GWAS were identified as strongly associated to other phenotypic components, a number of associations were identified with p-values ranging between 1x10-3 and 1x10-4 with traits such as respiratory failure, sleep disorders, hypoglycemia, hyperglyceridemia, GERD and IBS. The second PheWAS examined possible phenotypic predictors of abnormal RBC component measures: a number of hematologic phenotypes such as thrombocytopenia, anemias, hemoglobinopathies and pancytopenia were found to be strongly associated to RBC component measures; additional phenotypes such as (morbid) obesity, malaise and fatigue, alcoholism, and cirrhosis were also identified to be possible predictors of RBC component measures.
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PMID:GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort. 3119 88

Cryptococcosis is a major life-threatening fungal infection in patients with severe HIV infection and other immunocompromised states. Lung and central nervous system (CNS) are the most commonly involved organs in disseminated cryptococcosis. Others include skin, prostate, medullary cavity of bones, eyes, heart, liver, etc. Pulmonary cryptococcosis may be misdiagnosed because of comparatively nonspecific clinical and radiological features. We report the case of a 61-year-old male patient who is a known case of gastroesophageal reflux disease (GERD), myasthenia gravis, and steroid-induced diabetes mellitus. He was diagnosed with gangrenous cholecystitis at another institution but refused surgery. At our hospital, he experienced loss of consciousness in the out-patient department (OPD) and was therefore admitted for further evaluation where he was found to have pulmonary cryptococcosis and pancytopenia. Pulmonary cryptococcosis is usually found in HIV-positive immunosuppressed patients. However, sometimes it is also seen in HIV-negative patients, and they tend to have a good prognosis with adequate treatment.
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PMID:Pulmonary Cryptococcosis in a Human Immunodeficiency Virus Negative Patient: A Case Report. 3277 86