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)

Anticentromere antibody (ACA) was investigated in 116 blood relatives of 22 ACA positive patients affected with scleroderma and, for comparison, in 82 healthy subjects matched for age and sex who belonged to 25 families. No relative showed any evident scleroderma symptom although in 8 an unusual cold sensitivity of the extremities was present. ACA at a low titer (40), was found in 4 relatives (3.44%), while it was absent in control sera. The 4 ACA positive relatives were first as well as second degree relatives of probands. Two had familial disease: one idiopathic chronic hypoparathyroidism and the other mental retardation. The third had myasthenia gravis and the fourth unusual cold sensitivity and allergic dermatitis. At present we cannot explain the significance of ACA occurrence in relatives of ACA positive patients. Followup clinical and serological studies could show a possible association of low titer of ACA with subclinical scleroderma features in patients who later develop overt disease.
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PMID:Prevalence of anticentromere antibody in blood relatives of anticentromere positive patients. 387 81

A 61-year-old woman presented with circumscribed eczematous eruptions with maceration, erosions and patchy infiltration in the perineum and inframammary regions. A diagnosis of eosinophilic granuloma (cutaneous histiocytosis X) was established. T lymphocytes from a skin biopsy were grown in vitro for three weeks after which chromosomal studies revealed a break or gap at chromosome 16q22 in 15% of the lymphocytes. The addition of alpha-interferon increased the percentage of affected cells to 28%. T lymphocytes from the patient's blood did not show the defect. The biological significance of the chromosomal defect is uncertain. It has been described before in healthy persons, malignant lymphoma, cold urticaria and IgA deficiency, and mental retardation. It has not been seen in patients with eosinophilic granuloma.
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PMID:Eosinophilic granuloma associated with a 16q22 chromosomal defect of cutaneous T lymphocytes. 608 32

A clinical study has revealed that irritation caused by pre-existing diseases of the ear (e.g. chronic otitis externa, wax with chronic otitis externa, C.S.O.M. with otitis externa or the presence of wax in the meatus) and by those of the nose (e.g. acute or chronic rhinitis, chronic vestibulitis or the presence of dried, thick sticky mucus in the vestibule of the nose in the resolving stage of a common cold) are the major aetiological factor in foreign bodies in the ear and nose. Boredom, curiosity, whims to explore the natural cavities of the body, habit, acts of imitation, fun-making and mental retardation are only minor aetiological factors.
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PMID:Aetiological evaluation of foreign bodies in the ear and nose. 649 95

Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.
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PMID:Coarctation of the abdominal aorta. 852 35

Profound hypothermia (core temperature of less than 28 degrees C) is a life threatening state and a medical emergency associated with a high mortality rate. The prognosis depends on underlying diseases, advanced or very early age, the duration prior to treatment, the degree of hemodynamic deterioration, and especially, the methods of treatment, including active external or internal rewarming. This is a case study of an 80-year-old female patient with severe accidental hypothermia (core temperature 27 degrees C). She was found in her home lying immobile on the cold floor after a fall. The patient was in a profound coma with cardiocirculatory collapse, and the medical staff treating her was inclined to pronounce her deceased. On her arrival at the hospital, she was resuscitated, put on a respirator and actively warmed. Very severe metabolic disorders were found, including a marked metabolic acidosis composed of diabetic ketoacidosis (she had suffered from insulin treated type 2 diabetes mellitus) and lactic acidosis with a very high anion gap (42) and a hyperosmotic state (blood glucose 1202 mg/dl). There were pathognomonic electrocardiographic abnormalities, J-wave of Osborn and prolonged repolarization. Slow atrial fibrillation with a ventricular response of 30 bpm followed by a nodal rhythm of 12 bpm and reversible cardiac arrest were recorded. The pulse and blood pressure were unobtainable. Despite the successful resuscitation and hemodynamic and cognitive improvement, rhabdomyolysis (CKP 6580 u/L), renal failure and hepatic damage developed. She was extubated and treated with intravenous fluids containing dopamine, bicarbonate, insulin and antibiotics. Her medical condition gradually improved, and she was discharged clear minded, functioning very well and independent. Renal and liver tests returned eventually to normal limits. Progressive bradycardia, hypotension and death due to ventricular fibrillation or asystole commonly occur during severe hypothermia. Respiratory and metabolic, sometimes lactic, acidosis, lethargy and coma, hypercoagulopathy, hyperosmolar state, acute pancreatitis and renal and hepatic failure are frequent complications of hypothermia. Underlying predisposing causes of hypothermia are diabetic ketoacidosis, cerebrovascular disease, mental retardation, hypothyroidism, pituitary and adrenal insufficiency, malnutrition, acute alcoholism, liver damage, hypoglycemia, sepsis, hypothalamic dysfunction, sepsis and polypharmacy, and especially, the use of sedative and narcotic drugs. Our case demonstrates once again that CPR once begun should continue until the successful rewarming because "no one is dead until warm and dead".
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PMID:[Severe accidental hypothermia in an elderly woman]. 1175 73

The fever is one of the commonest symptoms of disease in childhood. A mother's knowledge and conception of fever may determine the degree of her anxiety and fear, and reflect on the way the fever is managed at home. Our understanding of mothers' attitudes may help to improve the home management of fever by correcting unrealistic beliefs. Mothers of 100 children were randomly selected and interviewed to answer a questionnaire about fever. Sixty mothers thought that fever could lead to death, others thought that it might lead to paralysis, mental retardation or brain damage. This may explain their undue anxiety and fear when having a child with fever. Cold exposure, teething, exposure to sunlight and having a warm drink were considered as causes. A minority reduced the child's clothes during fever. Tap water sprinkling and occasionally alcohol were used. Ninety-four mothers used antipyretics, all used paracetamol and 23 per cent used aspirin. Sixty two used antibiotics indiscriminately. Improved health education is required to allay mothers fear and anxiety and promote a more appropriate fever management at home.
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PMID:Mothers' perceptions of fever in children. 1611 38

Developmental disabilities (DD) are defined as a diverse group of severe chronic conditions due to mental and/or physical impairments. Individuals with developmental disabilities have difficulty with major life activities including language, mobility, and learning. Developmental disabilities can begin anytime during development--from prenatal up to 22 years of age, and the disability usually lasts throughout a person's lifetime. Autism spectrum disorders, cerebral palsy, mental retardation, and attention deficit hyperactivity disorder are common conditions falling within the definition of developmental disabilities. Complementary and alternative medicine (CAM) is becoming increasingly utilized in the general population for treatment of everything from the common cold to complex and chronic medical conditions. This article reviews the prevalence of different types of CAM used for various developmental disabilities.
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PMID:Complementary and alternative medicine in developmental disabilities. 1639 50

Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships to further understand the clinical variability and genetic factors involved in SMS. Clinical and molecular information on 105 patients with SMS was obtained through research protocols and a review of the literature and analyzed using Fisher's exact test with two-tailed p values. Several differences in these groups of patients were identified based on genotype and gender. Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity. Significant differences between genders were also identified, with females more likely to have myopia, eating/appetite problems, cold hands and feet, and frustration with communication when compared with males. These results confirm previous findings and identify new genotype-phenotype associations including differences in the frequency of short stature, hearing loss, ear infections, obesity, overeating, heart defects, self-injury, self-hugging, dry skin, seizures, and hyperactivity among others based on genotype. Additional studies are required to further explore the relationships between genotype and phenotype and any potential discrepancies in health care and parental attitudes toward males and females with SMS.
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PMID:Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. 1753 3

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.
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PMID:Menkes kinky hair disease: A case report. 1880 Nov 84

We have established that human genome sequences encoding a novel protein domain, DUF1220, show a dramatically elevated copy number in the human lineage (>200 copies in humans vs. 1 in mouse/rat) and may be important to human evolutionary adaptation. Copy-number variations (CNVs) in the 1q21.1 region, where most DUF1220 sequences map, have now been implicated in numerous diseases associated with cognitive dysfunction, including autism, autism spectrum disorder, mental retardation, schizophrenia, microcephaly, and macrocephaly. We report here that these disease-related 1q21.1 CNVs either encompass or are directly flanked by DUF1220 sequences and exhibit a dosage-related correlation with human brain size. Microcephaly-producing 1q21.1 CNVs are deletions, whereas macrocephaly-producing 1q21.1 CNVs are duplications. Similarly, 1q21.1 deletions and smaller brain size are linked with schizophrenia, whereas 1q21.1 duplications and larger brain size are associated with autism. Interestingly, these two diseases are thought to be phenotypic opposites. These data suggest a model which proposes that (1) DUF1220 domain copy number may be involved in influencing human brain size and (2) the evolutionary advantage of rapidly increasing DUF1220 copy number in the human lineage has resulted in favoring retention of the high genomic instability of the 1q21.1 region, which, in turn, has precipitated a spectrum of recurrent human brain and developmental disorders.
Cold Spring Harb Symp Quant Biol 2009
PMID:DUF1220 domains, cognitive disease, and human brain evolution. 1985 Aug 49


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