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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Serologic surveys for Toxocara canis and Strongyloides sp., as well as stool examinations for intestinal parasites, were conducted in a home for mentally retarded adults. Evidence of parasitic infection was found in 30 (28.3%) of 106 residents; nine (8.5%) had positive toxocaral serology (enzyme-linked immunosorbent assay[ELISA]), 1 (0.9%) had positive serology for Stronglyoides sp. (ELISA), and 21 (19.8%) had parasites in stool (including Stronglyoides stercoralis in the patient with positive serology). Most of the residents with positive toxocaral serology lived in the same apartment and used to play with dogs. Parameters found to be significantly associated with positive toxocaral serology were pica behavior and eosinophilia (P less than 0.05). Mental retardation requiring institutionalization appears to be a risk factor for toxocariasis and other parasitic infections in adults as it is for children.
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PMID:Seroepidemiologic study of toxocariasis and strongyloidiasis in institutionalized mentally retarded adults. 155 66

Incontinentia pigmenti (IP) is a hereditary syndrome characterized by specific skin lesions occurring mostly during the neonatal period (96% of the cases before 6 weeks of age). These skin lesions have four steps of evolution: inflammatory or erythemato-bullous stage (very often associated with peripheral blood hyper-eosinophilia), proliferative or verruco-lichenoid stage, pigmentary or terminal stage characterized by "fountain" or "firework" features (with a picture of pigmentary incontinence at histological examination), sometimes there is a fourth stage referred to as "involutive". Ocular and neurological involvement is the main determinant in the prognosis. Eye lesions include corneal flecks, cataracts, uveitis or optical atrophy with retrolental fribroplasia. The neurological involvement includes pyramidal syndrome, cerebral ataxia, microcephalia, and mental retardation. The disease has mainly an X-linked dominant transmission and is usually lethal for males. Rare cases are observed in boys, some being associated with Klinefelter syndrome. Research is ongoing to identify the IP gene on the X chromosome. In the family form of IP, the gene has been located on chromosome Xq28, which allows prenatal diagnosis using trophoblast biopsy.
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PMID:[Incontinentia pigmenti]. 878 38

Chromosome 8p11-12 is the site of a recurrent breakpoint in a myeloproliferative disorder that involves lymphoid (T- or B-cell), myeloid hyperplasia and eosinophilia, and evolves toward acute leukemia. This multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell. In this disorder, the 8p11-12 region is associated with three different partners 6q27, 9q33, and 13q12. We describe here the molecular characterization of the t(8;13) translocation that involves the FGFR1 gene from 8p12, encoding a tyrosine kinase receptor for members of the fibroblast growth factor family, and a gene from 13q12, tentatively named FIM (Fused In Myeloproliferative disorders). FIM is related to DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1; this defines a gene family involved in different human pathologies. The two reciprocal fusion transcripts, FIM/FGFR1 and FGFR1/FIM are expressed in the malignant cells. The FIM/FGFR1 fusion protein contains the FIM putative zinc finger motifs and the catalytic domain of FGFR1. We show that it has a constitutive tyrosine kinase activity.
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PMID:Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). 957 49

Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty-eight of the 49 patients meet current criteria for diagnosis of IP type II. The phenotype is variable and the incidence of documented developmental delay is 25%. Five patients had Klinefelter syndrome (47,XXY). Most patients were reported prior to 1961 when chromosome analysis was not available. Biopsy and laboratory reports considered to be "consistent with" the diagnosis of IP were seen in patients meeting criteria as well as those who would not currently be given the diagnosis. The histologic findings considered diagnostic are varied. This variability may be accounted for by differences in stage of disease, biopsy site, histologic technique, and reporting style. Conversely, this may indicate that the diagnostic weight given to the biopsy should be reconsidered. Eosinophilia was not a consistent finding. Overall, differences in reporting, ascertainment, and length of follow-up lead to difficulty in interpreting or predicting the natural history of males with IP type II. Based on the existing literature, they appear to have a higher rate of mental retardation than the general population, but there does not appear to be a correlation between severity of physical and mental involvement. The presence of sex chromosome aneuploidy documented in the more recent cases emphasizes the need for chromosome analysis in any male patient suspected of IP type II.
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PMID:Male cases of incontinentia pigmenti: case report and review. 960 87

A 52-year-old woman in good health with a family history negative for dermatologic diseases presented to our department with thickening and dystrophy of all her fingernails and toenails that started when she was born. She also had hyperkeratosis on the palms of her hands and soles of her feet that was confined to sites of pressure and recurrent plantar blisters that began appearing at puberty. The patient reported marked pain while walking from such plantar involvement. Her medical history revealed a persistent hoarseness; palmoplantar hyperhidrosis; and the appearance of numerous cysts on her back, neck, and scalp since she was 20 years old. These latter lesions had been diagnosed as multiple steatocystoma on the basis of the histologic features. Upon examination, all of her fingernails and toenails appeared shortened, thickened,and dystrophic (Figures 1-3). In addition, they presented subungual keratosis and a yellowish-gray color. Hyperkeratosis and small ulcerations were present on the perionychium. Palmoplantar keratoderma was evident, especially on the soles,in association with superficial erosions (Figure 4). Keratosis pilaris was evident on the extensor surfaces of the forearms as well as on the anterior surfaces of the legs. Multiple nodules were detected on the patient's neck, trunk, and axillary regions(Figure 5). They consisted of multiplex steatocystoma and were characterized by a hemispheric shape, a normal-appearing skin color, and by an elastic consistency on palpation. Oral and dental changes were not detected, although hair anomalies were evident. Laboratory parameters disclosed eosinophilia and increased total IgE levels. The results of serum protein electrophoresis was normal, as were those concerning hepatic and renal functions. The ophthalmology examination showed neither corneal dyskeratosis nor cataracts. The neurologic-psychiatric visit revealed slight mental retardation.
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PMID:Case study: pachyonychia congenita: a mixed type II-type IV presentation. 1524 89

Job's syndrome also known as hyper-IgE syndrome is a rare disorder associated with immunodeficiency. It includes recurrent abscesses of staphylococcal origin affecting skin and musculoskeletal system, recurring pneumonia and pneumatoceles, eosinophilia, craniofacial, and bone growth changes. This case report describes the disease and anesthetic management. Ten-year-old male child weighing 18 kg was diagnosed recently as Job's syndrome and was posted for abscess drainage over chest, back, upper, and lower limb. He had associated severe mental retardation. The choice of anesthetic technique was based on multiple surgical sites and associated mental retardation. Due to associated mental retardation child was sedated under our vigilance with syrup midazolam 9 mg orally and EMLA cream applied with occlusive dressing 30 min prior to shifting to OT. Upon arrival to the OT, pulse oximetry, noninvasive blood pressure, Electrocardiogram, temperature probe, cardioscope were attached. Inhalation induction done with sevoflurane and IV line secured with 22G cannula. Glycopyrolate 0.1 mg + fentanyl 30 mcg + Propofol 30 mg given intravenously. General anesthesia was maintained with bag and mask ventilation with oxygen + nitrous oxide + sevoflurane with spontaneous ventilation. Postoperative period was uneventful. This case is presented in view of rarity of its occurrence and frequency of repeated surgical intervention and anesthesia. Associated mental retardation in this case could be an isolated incident or could be an occurrence related to underlying disease process itself.
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PMID:Anesthetic management in a child with Job's syndrome. 2588 24