Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reports a Swiss family affected by a cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) linked to chromosome 19q12. In three generations several members of this family had recurrent stroke-like episodes and, some developed subcortical dementia, migraine-like headaches, and depression. The clinically affected family members had multiple subcortical infarcts and diffuse leukoencephalopathy on MRI. Necropsy of one patient showed a distinctive non-amyloid and non-atherosclerotic angiopathy of small cerebral and leptomeningeal arteries with concentric depositions of a basophilic granular material replacing the smooth muscle cells of the media. Linkage analysis with five chromosome 19 markers spanning the estimated CADASIL interval showed the absence of any recombinant and positive Lod scores, highly suggestive of linkage of this condition to the CADASIL locus. CADASIL might be an underestimated cause of familial stroke and should be considered in the differential diagnosis of hereditary stroke.
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PMID:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. 762 27

The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (> 100 U/ml). This familial disorder has been diagnosed in 56 subjects worldwide. As the hyper-IgD syndrome resembles familial Mediterranean fever, one could speculate that both result from mutations in the same gene. The gene causing familial Mediterranean fever (MEF) has been located on chromosome 16p. We have studied 10 families with 19 affected and 28 non-affected subjects. The clinical findings and IgD determinations from these families are compatible with autosomal recessive inheritance. Using highly polymorphic markers surrounding the MEF gene, only negative Lod scores were obtained, whereas haplotype analysis excluded this locus as the cause of the hyper-IgD syndrome. In addition, no indication for linkage was obtained with markers from other candidate gene regions on chromosomes 17q and 14q.
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PMID:Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group. 798 36

The incidence of murine typhus in Israel has decreased substantially since 1950 to a low of 0.04/100,000 population in 2010. We present the experience of a single university medical center in central Israel. Hospitalized patients serologically positive for Rickettsia typhi by indirect immunofluorescence antibody assay during 2006-2016 were retrospectively identified. Clinical and laboratory data from patients' charts were used to analyze disease trends and distribution. Seventy-eight patients were studied (mean age: 27.9 years), mostly of Arab ethnicity (68, 87.2%). Seventy-one (91%) patients resided in two large mixed Jewish-Arab cities-Lod and Ramla. The incidence of murine typhus among the Arab population in Lod increased 8.4-fold from 6.4/100,000 in 2006 to a peak of 53.4/100,000 in 2013. The average annual incidence among Arabs in Ramla was 10.1/100,000. Among Jews, incidences were 0.8/100,000 in Lod and 0.4/100,000 in Ramla. The classical triad of fever, headache, and rash was noted in 20.8% patients. Substantial morbidity included prolonged fever before hospitalization and hospital stay (mean of 8.4 and 5.1 days, respectively), and severe complications in six patients, including pneumonitis in three patients, and splenic infarctions, pericardial effusion, and retinitis, each in one. One previously healthy patient died of multiorgan failure. The study describes a high incidence of murine typhus with a recent upsurge in an urban setting in central Israel. High morbidity and a single fatal outcome challenge the concept of murine typhus being a mild disease. The study calls for better rodent control and sanitation measures in the affected neighborhoods.
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PMID:High Morbidity Due to Murine Typhus Upsurge in Urban Neighborhoods in Central Israel. 3076 83