Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adenoidectomy and tonsillectomy are the most common major operations done on children. The indications for tonsillectomy in certain clinical situations are constantly being debated in the literature and among professionals. We studied the efficacy (or lack of it) of adenotonsillectomy for chronic tonsillitis (recurrent throat infections), oral nasal obstruction, peritonsillar abscess, elimination of a bacterial carrier state, biopsy, and prevention of tongue thrusting with resultant anterior open bite. Adenoidectomy has been advocated in the literature for the treatment of nasal obstruction, sinusitis, and chronic serous otitis media. Complications of tonsillectomy and adenoidectomy include hemorrhage, anesthetic death, infection, nasopharyngeal stenosis, patulous eustachian tube, and hypernasality. Children at risk for hypernasality are those with mental retardation, cerebral palsy, neuromuscular disorders, and submucous cleft of the soft palate. Because of the severity of the complications that can be encountered in any child, medical and conservative therapy should be attempted before operation is done. Proper antibiotic therapy will often control chronic serous otitis, sinusitis, and chronic, recurrent tonsillitis. Bacterial synergy is important to consider when selecting antibiotic therapy, since beta-lactamase production may protect pathogens commonly considered susceptible to standard antibiotic therapy.
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PMID:Adenotonsillectomy in children: indications and contraindications. 316 79

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self-mutilation and sleep disturbance. This report defines the otorhinolaryngological aspects of a new case of SMS, confirmed by cytogenetic-molecular analysis, in a 9 year old girl affected by chronic otitis media, deafness and sinusitis, who presented with typical clinical signs and symptoms.
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PMID:Otorhinolaringologic manifestation of Smith-Magenis syndrome. 1137 92

Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian Primary Immunodeficiency Registry was used as the data source. Progressive ataxia was seen in all the patients. Other symptoms were eye movement disorders (n = 84), slurred speech (n = 70), mental retardation (n = 10), and ocular (n = 87) and cutaneous (n = 73) telangiectasia. Three patients developed leukemia and lymphoma, and 17 patients had family history of malignancy. Positive correlation was seen between clinical immunologic symptoms and immunoglobulin deficiencies (P = 0.004). The predominant infections were sinopulmonary and acute and recurrent infections (78 cases). Infections included pneumonia (56 patients), otitis media (34 patients), and sinusitis (50 patients). Average serum alpha-fetoprotein level was 149 +/- 137 ng/dL. The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial marriages. Treatment should be focused on supportive management to prolong survival.
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PMID:Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. 1762 18

Cilia and flagella are important organelles used for sensing the external cellular environment or for motility. Abnormalities in ciliary structure or function can have devastating pathological consequences ranging from sinusitis and obesity to polycystic kidney disease, retinal degeneration, and mental retardation. Chlamydomonas flagella are excellent models to study the regulation and normal function of cilia. We utilized the 1280 compound Sigma LOPAC annotated library to screen for phenotypes in Chlamydomonas flagellar length, motility, deflagellation, and cellular toxicity. Phenotypes were assessed by quantitation from direct microscopic visualization and custom-designed motility/viability assays. Compounds were clustered based on data across all assays to facilitate the identification of novel pathways regulating flagella in Chlamydomonas. These methods can both aid our understanding of the basic biology of flagellar regulation and provide useful points of therapeutic intervention for cilia-related disorders.
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PMID:Chemical screening methods for flagellar phenotypes in Chlamydomonas. 2352 78