Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appearance, narrow nose, and hypoplastic alae nasi. Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin, hair, and nails. In 2003, our analysis of 17 ODDD families revealed that each had a different mutation within the human gap junction alpha 1 (GJA1) gene which encodes the protein connexin 43 (Cx43). Since then at least 17 publications have identified an additional 26 GJA1 mutations and in this study, we present 28 new cases with 18 novel GJA1 mutations. We include tables summarizing the 62 known GJA1 nucleotide changes leading to Cx43 protein alterations and the phenotypic information available on 177 affected individuals from 54 genotyped families. Mutations resulting in ODDD occur in each of the nine domains of the Cx43 protein, and we review our functional experiments and those in the literature, examining the effects of 13 different Cx43 mutations upon gap junction activity.
 ...
PMID:GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 1933 53

Inflammatory pseudotumor is an idiopathic granuloma characterized by infiltrative proliferation of inflammatory cells and myofibroblastic cells, as well as locally aggressive features, clinically and radiologically mimicking a neoplastic process. The occurrence of inflammatory pseudotumor in the head and neck area is uncommon, especially in the parapharyngeal space. The case of a 54-year-old female with inflammatory pseudotumor of the parapharyngeal space is presented. The patient initially complained of hoarseness, dysarthria, aspiration, and hearing impairment. MRI disclosed an expansive soft mass in the parapharyngeal space encompassing the carotid arteries. Histopathologically, the lesions were composed of numerous plasma cells, lymphocytes, histiocytes, and spindle myofibroblastic cells, showing perineural infiltration of inflammatory cells. The patients' symptoms, including conductive hearing loss, improved dramatically with reduction in lesion size after corticosteroid treatment.
 ...
PMID:Inflammatory pseudotumor of the parapharyngeal space: a case report. 1985 37