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)

Child abuse by whiplash-shaking can lead to severe injury in infants, including cerebral damage, neurological defects, blindness, and mental retardation. These findings are seen often without external evidence of head injury. Nurses should suspect shaken baby syndrome (SBS) in infants less than 1 year of age who present with apnea, seizures, lethargy or drowsiness, bradycardia, respiratory difficulty, coma, or death. Subdural and retinal hemorrhages accompanied by the absence of external signs of trauma are hallmarks of the syndrome.
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PMID:Shaken baby syndrome: a nursing perspective. 771 67

A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. Although the underlying abnormality appears to be autosomal recessive inheritance or metabolic (possibly thymic) dysfunction, there is no consensus on etiology. The multiple organ involvement carries significant implications for the anesthetist. Intubation can be technically difficult, and care of the skin can be problematic. Essential hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.
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PMID:Cockayne syndrome: a case report. 781 Feb 87

A robot was used with a man and a woman affected by blindness, motor disabilities, and mental retardation. The robot was to assist these subjects during their ambulation and allow them to reach a couch (on which to sit) and to transport objects. The data showed that both subjects learned to use the robot, succeeded in transporting and putting away objects, and achieved independent ambulation times of over 22 and 20 min. per session. Staff personnel found the situation in which the subjects were busy with the robot preferable to situations in which the robot was not available.
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PMID:Promoting ambulation and object manipulation in persons with multiple handicaps through the use of a robot. 787 May 9

The warfarin embryopathy is a well-defined complex of fetal anomalies generally accepted to result from first trimester exposure. Optic atrophy and dilation of the cerebral cerebral ventricles associated with blindness, microcephaly, and mental retardation have been reported following second and third trimester exposure. In contrast to the consistent clinical features observed in the warfarin embryopathy, the CNS effects seen in fetuses exposed in the later trimesters share little in terms of specific lesion or long-term clinical outcome. A case of schizencephaly in a coumadin-exposed fetus is presented. This report offers supportive evidence that the CNS sequellae of this agent are the result of vascular accident and hemorrhage, not a direct effect on CNS morphogenesis. The molecular basis for the adverse effects of warfarin derivatives on the fetus are reviewed. Warfarin derivatives exert both their embryopathic and their fetopathic effects via pharmacologic action: inhibition of gamma carboxylation of osteocalcin and a similar carboxylation of the vitamin K dependent clotting factors. Therefore, we believe that warfarin exposure in the second or third trimesters of pregnancy is equally dangerous to the fetus as that in the first. Heparin may be a superior alternative to warfarin for the prevention of thromboembolic disease in pregnant women with cardiac valve prostheses.
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PMID:Congenital schizencephaly associated with in utero warfarin exposure. 803 22

Following the 1990 World Summit for Children, the annual report of UNICEF detailed progress to the Summit's goals it set for the year 2000. The targets are a 33% reduction in under-5 mortality, halving child malnutrition and maternal mortality rates, and 90% immunization coverage of major childhood diseases. Over 85 states are signed up with national programs to mobilize not only health services but to extend it to schools, media, religious leaders, and businesses. The maternal mortality rate of 1 in 20 in Africa compares with 1 in 3600 in North America; and under-5 mortality rates of 5 in 1000 in Sweden are compared with 300/1000 in Niger. 61 countries are still likely to double their population in the next 35 years, and millions of women have no access to birth control programs. Mental retardation caused by lack of iodine in the diet claims an estimated 6 million victims. There are also the familiar problems created by diarrhea, measles, and bottle feeding. On the other hand, the new UNICEF report, The Progress of Nations, demonstrates that in little more than 1 generation average real incomes have doubled; child death rates have halved; malnutrition has fallen by about 30% (only 1 or 2% of the world's children are affected by visible malnutrition); life expectancy has increased by about 33%; modern contraceptive use by couples has risen from less than 10% to over 50% since 1960; and average family size is declining in almost every country. In just a decade measles immunization coverage of the developing world's children has risen from 20% to 80% saving 3 million young lives a year and preventing 50 million other children from catching a nonfatal dose. Nevertheless, these gains are thwarted by the existence of millions of malnourished and uneducated children whose prospects for future employment are constrained by polio, blindness, deafness, and mental retardation.
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PMID:UNICEF's goals for 2000 AD. 810 79

The survey on immunization, treatment for diarrhea, night blindness, and infant mortality was carried out in April, 1992, using a cluster sample design and systematic random sampling. 30 clusters (villages) were selected from a total of 105, and 25 households with a child less than 5 years old were identified in each cluster. The female head of household was interviewed. A total of 761 households with at least 1 child less than 5 years old were surveyed. There were 4667 persons in the sample: 282 were children less than one year old and 853 were children aged 12-59 months. The mean age of the respondents was 34 +or- 9 years, and 48% could not read. A handicapped person was reported in 14% (106/761) of the households. In children under 10 years of age, mental retardation, polio sequelae, and deafness/hardness of hearing were the leading causes (17/21, 81%) of disability. In children 10-14 years old, deafness/hardness of hearing and partial or complete blindness accounted for 72% (15/21) of the disabilities: 33% of 20-39 years old handicapped adults (14/42) were missing 1 or more limbs and 12% (5/42) suffered from polio sequelae. A child with night blindness was reported in 14% (107/761) of the households. Diarrheal episodes in the 2 weeks before the survey amounted to 578/761 (51%) of children less than 5 years old. Treatment included oral rehydration therapy in 145 (10%), and Western medicine in 702 (49%). 49% of the mothers reported that their child had been immunized. Fully immunized children 9-23 months old numbered 20/134 (6%). Infant mortality rate was 84/1000 live births. 81% of infant deaths occurred within 6 months of birth. Fevers and respiratory distress were reported as the leading causes of death. Improving access to immunization services should be a priority. The high number of night blindness and either partial or complete loss of vision indicate need for vitamin A supplements. In-depth interviews of mothers of recently deceased children could help determine the causes of death, and assist program planners in reducing the high morbidity and mortality in the district.
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PMID:A population-based health survey in Kon Dieng District, Cambodia. 824 69

In the period 1985 to 1991, 80 infants with gestational age below 28 completed weeks were born at Hvidovre Hospital, Copenhagen and transferred to the neonatal intensive care unit of the hospital. The incidence of extreme prematurity was 3.6 0/00. Twenty-eight infants died during the neonatal period (35%) and nine infants died later in infancy (11.3%). Forty-three infants (54%) survived. Forty four percent of surviving infants had one or more sequelae related to their prematurity or neonatal complications, mainly blindness or reduced vision, cerebral palsy and mental retardation. Neither gender, mode of delivery or birth asphyxia were important for survival and sequels. Neonatal complications such as patent ductus arteriosus, septicaemia, necrotizing enterocolitis, pneumothorax and cerebral haemorrhages were significantly related to survival and sequelae.
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PMID:[Morbidity, mortality and late sequelae in extremely premature infants born in the Hvidovre Hospital, 1985-1991]. 800 8

The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought to code for a putative extracellular factor; its predicted amino acid sequence is homologous to the C-terminal domain of diverse extracellular proteins. Sequence pattern searches and three-dimensional modelling now suggest that the Norrie disease protein (NDP) has a tertiary structure similar to that of transforming growth factor beta (TGF beta). Our model identifies NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiological role of NDP. The model also sheds light on sequence related domains such as the C-terminal domain of mucins and of von Willebrand factor.
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PMID:Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. 829 46

Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infantile-malignant autosomal recessive, fatal within the first few years of life (in the absence of effective therapy); intermediate autosomal recessive, appears during the first decade of life but does not follow a malignant course; and autosomal dominant, with full-life expectancy but many orthopaedic problems. The infantile variant shows a myelophthisic anemia, granulocytopenia, and thrombocytopenia, and patients eventually die from infection or bleeding or both. Neurologic sequelae include cranial nerve compression (optic nerve, blindness; auditory nerve, deafness; facial nerve, paresis), hydrocephalus, convulsions, and mental retardation. Radiographs show uniform bone density without corticomedulary demarcation, broadened metaphyses, "bone within a bone" or endobone phenomena (tarsals, carpals, phalanges, vertebra, ilium), and thickened growth plates if there is superimposed rickets. Transverse pathologic fractures occur, often followed by massive periosteal bone formation. Computed tomographic scans, magnetic resonance imaging, and bone scans provide specific information. Iliac crest bone biopsy is valuable to quantitate osteoclast and marrow changes by light and electron microscopy. Medical treatments involve high-dose calcitriol to stimulate osteoclast differentiation and bone marrow transplantation to provide monocytic osteoclast precursors. Orthopaedic problems in the intermediate and autosomal dominant forms include increased fractures, coxa vara, long-bone bowing, hip and knee degenerative arthritis, and mandibular and long-bone osteomyelitis. Cranial nerve compression also occurs. Osteotomy, plating, intramedullary rodding, and joint arthroplasty can be done, but are difficult because of bone hardness.
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PMID:Osteopetrosis. Current clinical considerations. 835 40

A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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PMID:New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. 845 40


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