Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a patient with disk herniation it is often difficult to establish that the disk is free in the spinal canal. A retrospective medical record study comparing 65 cases of free herniated disk (FHD) confirmed upon surgery and 65 cases of disk protrusion (DP) demonstrated that FHD was more common in young male blue collar workers, especially those who worked in the sitting position. No clinical findings were diagnostic of FHD although the straight-leg raising test was positive at smaller angles than in disk protrusion. In this study, sensitivity and specificity of CT scan for the diagnosis of FHD were 75% and 80%, respectively. CT scan findings suggestive of FHD included a free disk fragment, found in 22.5% of cases, and an acute connecting angle. Saccoradiculography was more sensitive but less specific than CT scan in this study. In FDH, migration was common and ragged hernia contours were seen on the saccoradiculography images.
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PMID:[Diagnosis of extruded herniated disks]. 148 38

Focal dermal hypoplasia (FDH, Goltz syndrome), is an X-linked dominant mesoectodermal developmental disorder, involving skin, skeleton, eyes, teeth, and other organs. Mutations in PORCN, which stimulates the secretion of wingless family signal proteins, are found in FDH patients. A female fetus presented at 34 weeks gestation with interuterine growth restriction (IUGR), asymmetry, limb anomalies, microphthalmia, and lung anomaly. Focal dermal hypoplasia was confirmed at birth, with hypoplastic areas of skin, malformation of the limbs, diaphragmatic hernia, and ocular anomalies. Mutation analysis of PORCN revealed a nonsense mutation-Y359X. She presented natal teeth, an unexpected feature considering the role of the Wnt pathway in tooth development.
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PMID:A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. 2070 76