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

Homocystinuria is an inherited metabolic disease characterized biochemically by increased blood and brain levels of homocysteine caused by severe deficiency of cystathionine beta-synthase activity. Affected patients present mental retardation, seizures, and atherosclerosis. Oxidative stress plays an important role in the pathogenesis of many neurodegenerative and vascular diseases, such Alzheimer's disease, stroke, and atherosclerosis. However, the mechanisms underlying the neurological damage characteristic of homocystinuria are still poorly understood. To evaluate the involvement of oxidative stress on the neurological dysfunction present in homocystinuria, we measured thiobarbituric acid reactive substances (TBARS), an index of lipid peroxidation, and total radical-trapping antioxidant potential (TRAP) and antioxidant enzyme activities (superoxide dismutase, catalase, and glutathione peroxidase) in rat hippocampus in the absence (controls) or in the presence of homocysteine (10-500 microM) in vitro. We demonstrated that homocysteine significantly increases TBARS and decreases TRAP, both in a dose-dependent manner, but did not change antioxidant enzymes. Our results suggest that oxidative stress is involved in the neurological dysfunction of homocystinuria. However, further studies are necessary to confirm and extend our findings to the human condition and also to determine whether antioxidant therapy may be of benefit to these patients.
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PMID:In vitro effect of homocysteine on some parameters of oxidative stress in rat hippocampus. 1282 33

Fetal stroke, or that which occurs between 14 weeks of gestation and the onset of labor resulting in delivery, has been associated with postnatal epilepsy, mental retardation, and cerebral palsy. The entity is caused by antenatal ischemic, thrombotic, or hemorrhagic injury. We present seven new cases of fetal stroke diagnosed in utero and review the 47 cases reported in the literature. Although risk factors could not be assigned to 50% of the fetuses with stroke, the most common maternal conditions associated with fetal stroke were alloimmune thrombocytopenia and trauma. Magnetic resonance imaging was optimal for identifying fetal stroke, and prenatal imaging revealed hemorrhagic lesions in over 90% of studies; porencephalies were identified in just 13%. Seventy-eight percent of cases with reported outcome resulted in either death or adverse neurodevelopmental outcome at ages 3 months to 6 years. Fetal stroke appears to have different risk factors, clinical characteristics, and outcomes than other perinatal or childhood stroke syndromes. A better understanding of those risk factors predisposing a fetus to cerebral infarction may provide a basis for future therapeutic intervention trials. Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR. Fetal stroke.
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PMID:Fetal stroke. 1503 96

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.
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PMID:Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. 1503 80

We report on a case of a 48-year-old woman presenting with maternally inherited diabetes mellitus and deafness (MIDD) syndrome. Molecular genetic analysis and clinical evaluation were conducted in the patient and her 4 children to investigate the interrelation between an MIDD-associated mitochondrial DNA (mtDNA) mutation and clinical manifestations. Various symptoms and markers of MIDD, including seizures, migraines, short stature, mental retardation, and stroke-like episodes, were reviewed. Diabetes mellitus (DM) was studied by oral glucose tolerance and glucagon stimulation tests. Hearing impairment was determined by standard hearing tests and a brainstem auditory evoked potential test. The A3243G and T3271C transitional mutations of mtDNA were investigated from muscle and/or leukocytes and hair follicles. Mitochondrial-related symptoms were not found in the children, although they all harbored a heteroplasmic A3243G transition of mtDNA, as detected in screened samples. For the patient, the proportion of mutant mtDNA was highest in muscle cells followed by hair follicles and then leukocytes. Moreover, the proportion of mutant mtDNA was also higher in hair follicles than in leukocytes for asymptomatic family members. This Taiwanese MIDD family was found to have the A3243G point mutation as revealed from molecular genetic studies of leukocytes, hair follicles, and muscle tissue. However, no correlation was found between the proportion of mutant mtDNA and clinical features of any family member.
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PMID:Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family. 1507 93

Sialorrhea (drooling or excessive salivation) is a common problem in neurologically impaired children (i.e., those with mental retardation or cerebral palsy) and in adults who have Parkinson's disease or have had a stroke. It is most commonly caused by poor oral and facial muscle control. Contributing factors may include hypersecretion of saliva, dental malocclusion, postural problems, and an inability to recognize salivary spill. Sialorrhea causes a range of physical and psychosocial complications, including perioral chapping, dehydration, odor, and social stigmatization, that can be devastating for patients and their families. Treatment of sialorrhea is best managed by a clinical team that includes primary health care providers, speech pathologists, occupational therapists, dentists, orthodontists, neurologists, and otolaryngologists. Treatment options range from conservative (i.e., observation, postural changes, biofeedback) to more aggressive measures such as medication, radiation, and surgical therapy. Anticholinergic medications, such as glycopyrrolate and scopolamine, are effective in reducing drooling, but their use may be limited by side effects. The injection of botulinum toxin type A into the parotid and submandibular glands is safe and effective in controlling drooling, but the effects fade in several months, and repeat injections are necessary. Surgical intervention, including salivary gland excision, salivary duct ligation, and duct rerouting, provides the most effective and permanent treatment of significant sialorrhea and can greatly improve the quality of life of patients and their families or caregivers.
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PMID:Sialorrhea: a management challenge. 1520 98

The multimedia and virtual reality projects performed at our laboratory during the last ten years can be grouped into the following groups: 1) tutorial and entertainment programs for handicapped children, 2) rehabilitation programs for stroke patients and patients with phobias. We have developed multimedia software for handicapped children with various impairments: partial vision, hearing difficulties, locomotive difficulties, mental retardation, dyslexia etc. In the present paper we show the advantages of using multimedia software to develop mental skills in handicapped people and deal with the special needs of handicapped children. For the rehabilitation of stroke patients we have developed a computer-controlled method, which enables - contrary to methods used internationally - not only the establishment of a diagnosis, but also measurement of therapy effectiveness: 1) it enables us to produce a database of patients, which contains not only their personal data but also test results, their drawings and audio recordings, 2) it is in itself an intensive therapeutic test and contains tutorial programs. We are currently collecting test results. We have also developed some virtual worlds for treating phobias: a virtual balcony and a ten-story building with an external glass elevator as well as an internal glass elevator in the virtual Atrium Hyatt hotel. We have developed a virtual environment for treating claustrophobia too: a closed lift and a room where the walls can move. For specific phobias (fear of travelling) we have modelled the underground railway system in Budapest. For autistic children, we have developed virtual shopping software too. In this paper we present the advantages of virtual reality in the investigation, evaluation and treatment of perception, behaviour and neuropsychological disorders.
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PMID:Developing multimedia software and virtual reality worlds and their use in rehabilitation and psychology. 1571 16

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.
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PMID:Secondary tics and tourettism. 1596 46

The prognosis for intellectual development in children with symptomatic infantile spasms is usually poor. We report a 9-year-old boy with a history of a large, presumed perinatal, left middle cerebral artery infarct discovered when he developed infantile spasms at 6 months of age. The infantile spasms responded to treatment with adrenocorticotropic hormone. He attained cognitive milestones at normal times, requiring only speech therapy for dysarthric speech. At 9 years of age, he has seizures and a severe right hemiparesis but is an articulate honor roll student in advanced English classes. The development of infantile spasms after large-branch middle cerebral artery stroke does not always predict future mental retardation.
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PMID:A 9-year-old boy with a history of large perinatal stroke, infantile spasms, and high academic achievement. 1596 31

Lipids comprise the bulk of the dry mass of the brain. In addition to providing structural integrity to membranes, insulation to cells and acting as a source of energy, lipids can be rapidly converted to mediators of inflammation or to signaling molecules that control molecular and cellular events in the brain. The advent of soft ionization procedures such as electrospray ionization (ESI) and atmospheric pressure chemical ionization (APCI) have made it possible for compositional studies of the diverse lipid structures that are present in brain. These include phospholipids, ceramides, sphingomyelin, cerebrosides, cholesterol and their oxidized derivatives. Lipid analyses have delineated metabolic defects in disease conditions including mental retardation, Parkinson's Disease (PD), schizophrenia, Alzheimer's Disease (AD), depression, brain development, and ischemic stroke. In this review, we examine the structure of the major lipid classes in the brain, describe methods used for their characterization, and evaluate their role in neurological diseases. The potential utility of characterizing lipid markers in the brain, with specific emphasis on disease mechanisms, will be discussed. Additionally, we describe several proteomic strategies for characterizing lipid-metabolizing proteins in human cerebrospinal fluid (CSF). These proteins may be potential therapeutic targets since they transport lipids required for neuronal growth or convert lipids into molecules that control brain physiology. Combining lipidomics and proteomics will enhance existing knowledge of disease pathology and increase the likelihood of discovering specific markers and biochemical mechanisms of brain diseases.
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PMID:Identification of disease markers in human cerebrospinal fluid using lipidomic and proteomic methods. 1641 Jun 51

Perinatal arterial stroke is a significant cause of neurological deficit, including mental retardation, delayed motor development, epilepsy, and severe cognitive impairment. Most strokes occur in term neonates, due to thromboembolism from an intracranial or extracranial vessel associated with a risk factor such as asphyxia at birth and heart, hematological or infectious diseases. An association with instrumental delivery has not been clearly demonstrated, although several cases have been described in the literature. The incidence of stroke in the perinatal period is estimated to be 1/4000 term neonates per year. We describe three new cases of stroke in term neonates with instrumental delivery and describe the etiopathogenesis, diagnosis and outcome of this entity.
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PMID:[Arterial stroke after birth trauma]. 1660 76


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