Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case histories of 47 consecutive pediatric submersion victims admitted to the Changhua Christian Hospital from 1983 to 1990 were retrospectively reviewed for patient status on arrival and eventual outcome. Age, sex, season, location, estimated submersion time, cardiopulmonary resuscitation (CPR) at the scene, vital signs on arrival, Orlowski score, modified physiologic stability index (PSI) scoring system were analyzed. Patient outcome, based on the status at discharge, was categorized as (1) 22 patients survived intact, with normal findings on neurologic examination; (2) 10 patients had neurologic insults, with abnormal neurologic findings including mental retardation; (3) 15 patients died. The results clearly demonstrated that there were no differences among these three groups in the variables of estimated submersion time, CPR at the scene, referral from local medical clinics. The prominent characteristics of pediatric submersion were male (74%), age below three years (64%), summer season (45%) and fishpool (60%). The favorable prognostic factors were a body temperature greater than thirty-five centigrade, detectable heart beat and respiration on arrival, Orlowski score below two and PSI below seven.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:An analysis of prognostic factors for submersion accidents in children. 151 6

L-methylmalonyl-CoA mutase (MCM; E.C. 5,4,99,2) is the apoenzyme for catalyzing the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Genetic deficiency of MCM leads to the accumulation of precursors and abnormal metabolites of L-methylmalonyl-CoA. This can be associated with fulminant metabolic acidosis, widespread secondary aberrations in systemic metabolic homeostasis, mental retardation, or even neonatal death. This disorder is termed methylmalonic acidemia (MMA). This report, describes the use of an authentic, full-length cloned human cDNA probe, MCM26, kindly provided by Dr. Fred Ledley, for Southern blot analysis of genomic DNA. The pattern of EcoRI, Sac I and Hind III restriction endonuclease sites is reported from 14 unrelated control individuals of Chinese background. A Southern blot by EcoRI to the MCM26b probe reveals invariant bands of 4.1, 3.8, and 2.2 kb respectively. By EcoRI to the MCM26c probe, 7.2 kb is invariant. By HindIII to the MCM26c probe, invariant bands are 4.8 and 2.7 kb respectively. By SacI to the MCMb probe, invariant bands are 17, 8.0, 6.0, 3.6 and 1.8 kb respectively, while the polymorphic band is at 5.6kb. When combined with more diverse samples and additional polymorphisms, this restriction fragment length polymorphism may be useful for genetic diagnostic and linkage studies of MCM in MMA.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese. 197 11

A 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Primary hypoparathyroidism with basal ganglia calcification: report of a case]. 263 91

This article presents a 4-year-old boy who suffered from weakness of the right extremities since birth. Physical examination revealed mild mental retardation and right spastic hemiplegia. No seizures were noted. A brain CT scan showed bilateral clefts along Sylvian fissures, more marked on the left side, which communicated with the lateral ventricle. The septum pellucidum was absent. There was an evident squaring of the frontal horns. The CT findings were consistent with the diagnosis of schizencephaly. When a patient with mental retardation and spastic hemiplegia or diplegia fails to show a history of perinatal cerebral insult, the possibility of schizencephaly should be considered. In that case, a brain CT scan is a rapid and accurate diagnostic tool.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Schizencephaly: report of one case]. 263

The risk of neurodevelopmental disability from birth asphyxia secondary to intrapartum complications and obstetric mismanagement is generally overestimated. Between 8-17% of all cerebral palsy is associated with adverse perinatal events suggestive of asphyxia. Less than 10% is probably due directly to birth asphyxia itself. Studies have shown that different methods of intrapartum assessment of fetal well-being (fetal heart rate monitoring, fetal scalp pH, presence of meconium) do not correlate well with each other or with neonatal parameters (acid-base status at birth, Apgar scores, seizures, neurological behaviour) and outcome measures (death, cerebral palsy, mental retardation). The prevalence rate of cerebral palsy in most communities of 2.0-2.5 per 1000 children is not falling in spite of increasing use of obstetric and neonatal interventions aimed at preventing or treating birth asphyxia. Prediction of neurodevelopmental outcome of birth asphyxia is difficult because of a limited ability to measure birth asphyxia quantitatively in the antenatal and neonatal period. The terminology used to describe the condition is often confusing. It has been recommended that substantial cerebral hypoxia can only be presumed when four criteria are met: the infant has an Apgar score < or = 3 at 10 minutes, metabolic acidosis at birth, hypotonia for several hours and seizures. For the paediatrician, a number of clinical observations and laboratory investigations have been suggested as helpful in the prediction of death or disability among term infants with birth asphyxia.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Prognosis in infants with birth asphyxia. 783 79

Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of mental retardation, spasticity, choreoathetosis, and a compulsive form of self-mutilation. A deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT) provides the underlying metabolic basis for this disease. A 12 month-old male baby who had orange crystals over the diapers since he was 3 months old was brought to our hospital due to developmental delay. Mental retardation and athetosis were also noted. Chemical analysis revealed hyperuricemia (uric acid 8.6 mg/dl). Urine routine showed microscopic hematuria and uric acid crystals. The activity of HPRT in erythrocyte lysates of parents were both within normal limits, but that of the patient was very low (0.0547 nm/min/mg protein, < 0.05% of control). His younger brother was born 2 months after this disorder diagnosed in this patient. The younger brother was noted to have uric acid crystals over the diapers when he was 40 days old and hyperuricemia (10.6 mg/dl) showed up later. He was also a case of Lesch-Nyhan syndrome since the activity of HPRT in erythrocyte lysates was also low (0.0327 nmol/min/mg protein, < 0.05% of control). Further studies, including carrier detection and deoxyribonucleic acid (DNA) analysis, could be helpful for genetic counseling. This syndrome is rare among Chinese, and this may be due to underdiagnosis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Lesch-Nyhan Syndrome: report on two brothers. 783 90

From 1982 to 1991, there were 57 patients diagnosed with various intracranial disorders manifested initially with acute hemiplegia at the Department of Pediatrics, National Taiwan University Hospital. There were 33 boys and 24 girls, aged 12 days to 18 years old. In etiological consideration, cerebrovascular disease (66.7%), intracranial tumors (12.3%) and head trauma (10.5%) accounted for most of the cases. Besides acute hemiplegia, cranial nerve palsy (47.4%), disturbed consciousness (42.1%), headache (42.1%), vomiting (31.6%), focal seizure (21.1%) and fever (21.1%) were also common manifestations. Neuroimage studies of CT/MRI scan and angiography were the most useful diagnostic tools. Treatment modalities included medical treatment in 25 patients and surgical intervention in 16 patients and supportive treatment in the others. There were 12 fatal cases, half of whom died directly of intracranial pathology. The survivors exhibited various neurological deficits, in which motor deficits, mental retardation, and subsequent seizures were the three most common sequelae.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Acute hemiplegia in infancy and childhood. 817 42

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

Fragile X syndrome is one of the most frequent causes of hereditary mental retardation. In the past, its diagnosis depended primarily on cytogenetic demonstration of chromosome fragile site Xq27.3. Recently, the gene FMR-1 has been found responsible for this disease. Here a combined method was used to study fragile X syndrome. A fragment (pP1fr) of DNA was subcloned from pE5.1 by polymerase chain reaction. With this probe, DNA samples from two cytogenetically proved families were analyzed by restriction fragment length polymorphisms. It was demonstrated that EcoRI polymorphism was an easy and accurate method for diagnosis of the fragile X syndrome. To study methylation status of patients, another methylation-sensitive enzyme, BssHII, could be used together with EcoRI. The PstI polymorphism of one family was also studied and showed one kb fragment as normal, and detected more precise changes in length. Prominent mosaicism necessary was characteristic in PstI polymorphism. The DNA diagnosis of fragile X syndrome was a reliable method.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis. 837 65

A full-term female neonate presented with facial port-wine stain, cutaneous telangiectasia, left facial hemihypertrophy, and left hemimegalencephaly at birth and subsequently developed hypertrophic change of left limb. She fit the diagnostic criteria of Klippel-Trenaunay-Weber syndrome. However, it was an unusual variant of this syndrome because the patient had left facial hemihypertrophy, left hemimegalencephaly and ipsilateral ventriculomegaly. Although patients with hemimegalencephaly are commonly thought to be associated with neurological defects, such as developmental delay, mental retardation and intractable seizure, she had normal neurological development and no seizure was detectable until two years of age.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Klippel-Trenaunay-Weber syndrome with hemimegalencephaly: report of one case. 893 15


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