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)

A female infant with severe mental retardation, general hypotonicity, and a history of generalised oedema, cyanosis, heart murmur, and nystagmus in the first days of life was found to have both a translocation and a deletion. Her karyotype was 46,XX,del(21)t(18;21)(18p ter leads to 18q11::21q21 leads to 21qter;21pter leads to 21q11::18q11 leads to 18q ter). The karyotype of both parents was normal. The proposita is the result of a three break point exchange and is monosomic for part of the dark band q11 q21 of chromosome 21. It is suggested that in cases with mental retardation and apparent balanced de novo reciprocal translocation a small undetected deletion in one of the chromosomes involved in the translocation could explain the mental retardation.
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PMID:De novo simultaneous reciprocal translocation and deletion. 64 51

Literature data on the harmful effects of smoking during pregnancy are reviewed with special emphasis on the fetal growth retardation and delayed changes in child behavior. Intrauterine growth retardation is one of the major causes of low birth weight. It was shown that the birth weight of neonates in smoking mothers can be decreased by 30-396 g. Mass screening data indicate that smoking during pregnancy also increases perinatal mortality (up to 28%). Intrauterine growth retardation was also observed following passive smoking. Inhalation of tobacco smoke by pregnant women was found to increase the fetal heart rate and inhibit fetal movements. Children born from smoking mothers had the higher incidence of asphyxia, cyanosis and hyperactivity. Mass longitudinal studies of children of smoking mothers indicated learning disability, slight mental retardation and insufficient social adaptation by the age of 7 years. Special neurological follow-up study of 326 children revealed frequent minimal brain dysfunction. Pathogenesis of fetal disorders was shown to be associated with impaired adaptation to pregnancy in smoking women. Majority of the constituents of tobacco smoke are capable to pass through the placental-fetal barrier. The most harmful components for fetal development were found to be nicotine and carbon monoxide, which reduce the placental perfusion and blood flow. Exposure to carbon monoxide was shown to increase the level of carboxyhemoglobin and decrease the level of oxyhemoglobin resulting in reduced oxygen supply to fetal tissues and fetal anoxia.
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PMID:[Pathogenesis of fetal growth retardation and behavioral disorders in the progeny caused by smoking during pregnancy]. 265

The authors report on 13 cerebral abscesses developed in children with cyanogenic heart disease. The abscesses have been treated by one or several punctures and by a general antibiotherapy adjusted to the germ when it was isolated. C.T. Scan and epidural Intra-cranial pressure monitoring have defined the Therapeutic tactics. The mortality rate is 7.7%. 60% of the survivors lead a normal life; 40% are mentally retarded; however this mental retardation is not directly related to the abscess; it appears to be a consequence of the cyanogenic cardiopathy. The neurological sequelae are one epilepsy and two visual defects compatible with normal life. Successive C.T. Scans in the months following treatment have shown the progressive disappearance of the abscess membranes. The conclusions of this study are under antibiotherapy, it is better to tap abscesses than to remove them and that their prophylaxy is the suppression of the shunt responsible of the cyanosis.
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PMID:[Intra-cranial abscesses and congenital heart disease in children (author's transl)]. 711 Apr 99

This patients is a 48-day-old girl, born as the third child from a 29-year-old healthy mother. The pregnancy was uneventful, and the delivery was normal. Right after birth, she had episode of asphyxia for several minutes. Her weight of birth was 2,600 g, and the head circumference was 30.4 cm. Dyspnea and cyanosis after feeding were noted on the second day. At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease. Other abnormalities such as umbilical hernia, prolapsus ani, dislocation of the hip joint, and lumbosacral meningomyelocele. Cerebral angiogram demonstrated no pathological findings. Pneumoencephalogram showed accumulation of air at the cranial base. Operation was performed for repair of meningomyelocele at the age of 50 days. Postoperative course was smooth.
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PMID:[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)]. 742 65

Congenital methemoglobinemia is a relatively rare clinical disorder characterized by life-long cyanosis, caused by either an inherited mutant hemoglobin (Hb-M) or deficiency of physiologically active NADH-dependent methemoglobin reductase (NADH-MR). NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. In type I, cyanosis is the only major symptom and NADH-MR deficiency is restricted only to the red blood cells. In type II, cyanosis is associated with severe mental retardation and neurological impairment. The objective of this study is to establish the cause of cyanosis in our cases of congenital methaemoglobinemia. Erythrocyte NADH-MR activity was assayed spectrophotometrically. Spectral analysis of the hemolysate treated with potassium ferricyanide was recorded between 400-700 nm and Hb electrophoresis on starch gel at pH 7.0 was done to rule out the presence of Hb-M. NADH-MR deficiency was detected in 3 families. There was a history of consanguinity in one of these cases. The three propositi presented with breathlessness, fever and peripheral cyanosis. There was no history of cardiac illness or exposure to drugs and chemicals. There were no signs and symptoms of mental retardation. The presence of Hb-M was ruled out. Hb-A2, Hb-F, G6PD activity and reduced glutathione levels were normal. NADH-MR activity in all the cases ranged from 4.1 to 9.2 IU/g Hb (normal range 7.0-24.0 IU/g Hb). We describe NADH-MR deficiency in three unrelated cases (age 4 months to 6 years) where the activity of the enzyme was 30-40% of normal. These three cases of congenital methemoglobinemia are due to type-I NADH-MR deficiency without mental retardation.
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PMID:Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. 1280 31

Three patients showing epileptic seizures and with mosaicism of ring chromosome 14 and monosomy for chromosome 14 are described. Patients were a 17-year-old boy, karyotype 46, XY, r(14)(p12q32.33)/45, XY, -14, a 7-month-old boy, karyotype 46, XY, r(14)(p11.2q32.33)/45, XY, -14, and a 10-month-old boy, karyotype 46, XY, r(14)(p12q32.31)/45, XY, -14. Microcephaly and alopecia were observed in the first patient. However, few dysmorphic features were found typical of ring 14 chromosome. He had exhibited complex partial seizures with secondary generalization at age 3 months and had mild motor and mental retardation. Both other patients had atonic seizures followed by staring, perioral cyanosis, and respiratory arrest at age 7 or 8 months. Both also showed mild developmental delay and had a few minor anomalies compatible with ring 14 chromosome. Interictal spikes were observed in the second patient in the right occipital region, whereas an interictal encephalogram of the third patient showed sporadic spikes in the left central region. In all three cases, seizures were resistant to common antiepileptic drugs.
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PMID:Ring chromosome 14 with localization-related epilepsy: three cases. 1291 99

Congenital Central Hypoventilation Syndrome (CCHS, also known as Ondine's Curse) is a rare syndrome characterized by apnea, cyanosis, and hypotonia. A 4-year-old, 90-cm, 12-kg girl with CCHS, mental retardation (MR), and Hischsprung's disease (HD) was treated under general anesthesia. Intravenous drugs were not used, but sevoflurane, a volatile anesthetic, was used. As a result, the recovery time from the end of the operation to returning to the ward was very short, only 18 minutes. There was no trouble during the perioperative period. We safely performed general anesthesia and dental treatment for a girl who had CCHS with HD and MR.
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PMID:Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment. 1549

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor VIII was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism.
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PMID:49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 1564 56

The recessive form of congenital methemoglobinemia, caused by a defect of nicotinamide adenine dinucleotide-cytb5 reductase enzyme (cytb5r), is a rare disorder clinically presenting with cyanosis. Two different forms of recessive congenital methemoglobinemia have been described: In type I, cyanosis is the only major symptom and enzyme deficiency is restricted to erythrocytes. In type II, observed in 10-15% of all patients, enzyme deficiency occurs in the entire body and cyanosis is associated with severe, progressive neurologic impairment. This report presents a 10-year-old female with recessive congenital methemoglobinemia type II. She was admitted with quadriparetic cerebral palsy, mental retardation, convulsions, swallowing difficulty, and cyanosis. Etiology of cyanosis was not clarified exactly but was readily but erroneously attributed to uncontrolled, repetitive convulsions and aspiration of excessive oral secretions. Her methemoglobin level was measured as 51%, and a diagnosis of congenital methemoglobinemia was established. Oral ascorbic acid 500 mg/day was initiated. She responded well to therapy. Interestingly, neurologic deficits improved after ascorbic acid treatment. In conclusion, cyanosis and repetitive convulsions associated with neurologic deficits may be explained by congenital methemoglobinemia, a potentially treatable condition.
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PMID:A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia. 1608 59

The Smith-Lemli-Opitz syndrome is a mental retardation/malformation syndrome with behavioral components of autism. It is caused by a deficiency in 3beta-hydroxysteroid-Delta7-reductase (DHCR7), the enzyme required for the terminal enzymatic step of cholesterol biosynthesis. The availability of Smith-Lemli-Opitz syndrome mouse models has made it possible to investigate the genesis of the malformations associated with this syndrome. Dhcr7 gene modification (Dhcr7-/-) results in neonatal lethality and multiple organ system malformations. Pathology includes cleft palate, pulmonary hypoplasia, cyanosis, impaired cortical response to glutamate, and hypermorphic development of hindbrain serotonergic neurons. For the current study, hindbrain regions microdissected from gestational day 14 Dhcr7-/-, Dhcr7+/- and Dhcr7+/+ fetuses were processed for expression profiling analyses using Affymetrix oligonucleotide arrays and filtered using statistical significance (S-score) of change in gene expression. Of the 12,000 genes analyzed, 91 were upregulated and 98 were downregulated in the Dhcr7-/- hindbrains when compared to wild-type animals. Fewer affected genes, representing a reduced affect on these pathways, were identified in heterozygous animals. Hierarchical clustering identified altered expression of genes associated with cholesterol homeostasis, cell cycle control and apoptosis, neurodifferentiation and embryogenesis, transcription and translation, cellular transport, neurodegeneration, and neuronal cytoskeleton. Of particular interest, Dhcr7 gene modification elicited dynamic changes in genes involved in axonal guidance. In support of the microarray findings, immunohistochemical analyses of the netrin/deleted in colorectal cancer axon guidance pathway illustrated midline commissural deficiencies and hippocampal pathfinding errors in Dhcr7-/- mice. The results of these studies aid in providing insight into the genesis of human cholesterol-related birth defects and neurodevelopmental disorders and highlight specific areas for future investigation.
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PMID:Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. 1628 Jun 35


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