Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of bronchiectasis in a 26-year-old man associated with the following congenital abnormalities: deafness, purulent bronchorrhea, nasal polyps, dysmorphic physical pattern and chronic sinusitis. Situs inversus was absent. A sampling was performed on the posterior nasal mucous membrane and displayed structural ciliary abnormality: a deficiency of the intern dynein-arm. The patient's bother was affected and had similar features: congenital bronchiectasis, deafness, mental deficiency and sinusitis. Young's syndrome was relevant in this case. Hereditary ciliary dyskinesia should be considered in adults with bronchiectasis together with rhinologic and alimentary canal disorders. Nasal biopsies are safe and allow cilia examination.
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PMID:[Adult bronchiectasis revealing familial ciliary anomaly]. 1061 56

PURPOSE. The purpose of this study was to investigate the ocular, facial and radiological signs of Crouzon's syndrome in a group of older patients who had not undergone previous craniofacial surgery. METHODS. Six cases of Crouzon's syndrome, four of whom belonged to a three-generation family, were examined systemically, ophthalmologically and roentgenographically; five of these cases were additionally evaluated with computed tomography and compared with Apert syndrome. RESULTS. On radiologic evaluation, all cases had synostosis of all cranial sutures and fontanelles and brachycephalic skulls, crowding of the upper teeth due to maxillary hypoplasia, and serious nasal septum deviation. Bilateral ethmoidal, maxillary and sphenoidal chronic sinusitis was found in 50% of cases. Three patients had hypertelorism and two others had a tendency toward hypertelorism. The typical facial appearance with shallow orbits, globe protrusion and exorbitism was present in all cases. Two of them had V-pattern exotropia while the other four were orthophoric. The single case with mental retardation had bilateral cataract. CONCLUSION. Crouzon's syndrome can present with different findings and must be evaluated multidisciplinarly.
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PMID:Evaluation of findings in Crouzon's syndrome. 1204 69

A 10-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital lymphoedema syndrome or an intermediate form between these syndromes.
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PMID:Congenital lymphoedema, bronchiectasis and seizure: case report. 1866 89

There are few systems in place for patients with psychiatric disorders who need treatments for physical complications. In Tokyo, "The Tokyo metropolitan psychiatric emergency system" was established in 1981, and Ome Municipal General Hospital participated in it. Under this system, fifteen patients with psychiatric disorders were treated for otorhinolaryngological diseases in our department from April 2005 to March 2011. We reviewed the fifteen patients. The coexisting psychiatric disorders were schizophrenia in twelve patients, and mental retardation, Korsakoff's syndrome, and Alzheimer's dementia in one patient each, respectively. All the patients had been receiving psychiatric treatment. The otorhinolaryngological diseases were head and neck cancer in nine patients, chronic sinusitis in three patients, and benign salivary gland tumor, cholesteatoma, and epistaxis in one patient each, respectively. Among the fifteen patients, thirteen could complete their treatment, but two dropped out due to exacerbation of their psychiatric symptoms. The therapeutic course is uncertain in otorhinolaryngological diseases occurring concomitantly with psychiatric disorders, especially in head and neck cancer, because it may be difficult to prioritize the problem when determining the treatment options and delivering the treatment. Thus, we should treat patients with psychiatric disorders carefully on a case-by-case basis depending on their psychiatric symptoms. It is also important to cooperate with psychiatrists and patients' families.
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PMID:[Treatments for otorhinolaryngological patients with psychiatric disorders]. 2353 58