Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Shigella dysenteriae type 1 causes the most severe form of bacillary dysentery. The spectrum of illness ranges from mild watery diarrhoea to severe bloody diarrhoea. Shigellosis is often associated with intestinal complications, including intestinal perforation, intestinal obstruction, toxic dilatation of the colon, and prolapse of the rectum; systemic complications include septicaemia, hyponatraemia, hypoglycaemia, seizure, encephalopathy, haemolytic-uraemic syndrome, and malnutrition. Arthritis and conjunctivitis are rare extra-intestinal complications of shigellosis. Annually, about 110,000 patients receive treatment in the Dhaka Hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh for diarrhoea and diarrhoea-associated illnesses, of which 11% are due to shigellosis. However, arthritis associated with shigellosis has not been reported from this population. Arthritis has been reported in association with infection due to S. flexneri and S. sonnei from other places. We are unaware of any reported case of arthritis in association with S. dysenteriae type 1 infections. In this report, we describe the clinical and laboratory features of a young woman who developed arthritis following S. dysenteriae type 1 infection.
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PMID:Reactive arthritis associated with Shigella dysenteriae type 1 infection. 930 97

Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who was initially diagnosed as having Angelman syndrome. This case illustrates that MTHFR deficiency can mimic the phenotype of Angelman syndrome and that MTHFR deficiency should be excluded in patients with manifestations of Angelman syndrome whose molecular studies of chromosome 15 are normal.
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PMID:Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. 960 86

This self-directed learning module highlights new advances in the understanding of co-morbid conditions and medical complications of stroke. It is part of the chapter on stroke rehabilitation in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This article covers co-morbid conditions of stroke patients, including cardiovascular disease, diabetes, and sleep apnea. It reviews recent information on complications of stroke, including deep venous thrombosis, dysphagia and aspiration, hospital-acquired infections, depression, falls, spasticity, shoulder pain, and seizures. Treatment advances in diabetes, depression, and spasticity are highlighted. Recent information is presented regarding exercise guidelines for the stroke patient with cardiovascular disease, the relationship between stroke and sleep apnea, prophylaxis of deep venous thrombosis, the changing spectrum of hospital-acquired infections, malnutrition in stroke patients, the problem of falls during rehabilitation, the evaluation and management of poststroke shoulder pain, and the risk of seizures after stroke.
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PMID:Stroke rehabilitation. 2. Co-morbidities and complications. 1032 98

The purpose of this study is to review clinical features of children with moderate to severe Periodic Limb Movement Disorder (PLMD). Because of our interest in both Restless Legs Syndrome (RLS) and Attention-Deficit Hyperactivity Disorder (ADHD), many of our patients had one or both of these conditions. We did a retrospective review of 129 children and adolescents who were found to have Periodic Limb Movements in Sleep (PLMS) > 5/hour of sleep. Sixty five had PLMS of 5-10/hour of sleep, 48 had PLMS of 10-25/hour of sleep and 16 had PLMS > 25/hour of sleep. One hundred and seventeen of the original 129 had ADHD. Stimulant medication did not seem to play a role in the production of PLMS. In only 25 of the 129 cases did parents note the presence of PLMS before being specifically asked to look, and even after specific instructions to look, PLMS were not noted by the parents in 39 patients. The sub-group of 16 children and adolescents--6 female, 10 male (average age 11.1 years--range 6-17 years) with moderate to severe PLMS > 25/hour of sleep are described in more detail. Fifteen of the 16 patients had ADHD. Four of the 16 had RLS and 10 of 13 patients for whom a family history was available had a parent with RLS. Two of the 16 patients had their PLMS initially misdiagnosed as seizures. Sleep disturbance was present in all 16 patients and 7 of the 16 had daytime somnolence which resolved with dopaminergic medications. To our knowledge this is the first clinical series of moderate to severe PLMS in children and adolescents to be fully described in the literature.
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PMID:Moderate to severe periodic limb movement disorder in childhood and adolescence. 1034 79

To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.
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PMID:[Clinical spectrum and management of holoprosencephaly]. 1091 68

Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1). We refer to this condition as the Glut-1 Deficiency Syndrome (Glut-1 DS). The encoded protein (Glut-1), which has 12 transmembrane domains, is the major glucose transporter in the mammalian blood-brain barrier. The presence of GLUT1 mutations correlates with reduced cerebrospinal fluid glucose concentrations (hypoglycorrhachia) and reduced erythrocyte glucose transporter activities in the patients. We used Florescence in situ hybridization, PCR, single-stranded DNA conformational polymorphism, and DNA sequencing to identify novel GLUT1 mutations in 15 patients. These abnormalities include one large-scale deletion (hemizygosity), five missense mutations (S66F, R126L, E146K, K256V, R333W), three deletions (266delC, 267A>T; 904delA; 1086delG), three insertions (368-369 insTCCTGCCCACCACGCTCACCACG, 741-742insC, 888-889insG), three splice site mutations (197+1G>A; 1151+1G>T; 857T>G, 858G>A, 858+1del10), and one nonsense mutation (R330X). In addition, six silent mutations were identified in exons 2, 4, 5, 9, and 10. The K256V missense mutation involved the maternally derived allele in the patient and one allele in his mother. A spontaneous R126L missense mutation also was present in the paternally derived allele of the patient. The apparent pathogenicity of these mutations is discussed in relation to the functional domains of Glut-1.
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PMID:Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 1098 May 29

Altered glutathione metabolism in association with increased oxidative stress has been implicated in the pathogenesis of many diseases. However, whether strategies aimed at restoring glutathione concentration and homeostasis are effective in ameliorating or modifying the natural history of these states is unknown. In this review we discuss the pathogenic role for altered glutathione metabolism in such diseases as protein energy malnutrition, seizures, Alzheimer's disease, Parkinson's disease, sickle cell anaemia, chronic diseases associated with ageing and the infected state. In addition, we discuss the efficacy of glutathione precursors in restoring glutathione homeostasis both in vitro and in vivo.
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PMID:Glutathione in disease. 1112 62

In this study, 31 (30%) cases of urinary tract infection (UTI) of 103 patients with malnutrition, who were admitted to our hospital, were investigated prospectively. Our purpose was to determine the frequency of UTI, species of bacteria caused to infection and their antibiotic susceptibility in infants with malnutrition. The mean age of the patients with UTI was 11.5+/-7.6 months (ranging 50 days-30 months). The main symptoms were fever, vomiting, diarrhea, cough, and seizures. The mean body weight was 5.8+/-1.9 kg (2-10 kg), and height was 67.5+/-7.8 cm (53-85 cm). Seven of them had mild, 11 had moderate, and 13 had severe malnutrition. The most common isolated microorganism from urine cultures was Escherichia coli (54.8%). Most strains of Escherichia coli were resistant to co-trimoxazole (82.3%), ceftriaxone (17.6%), cefotaxime (17.6%), and ciprofloxacine (17.6%), but none of them were resistant to gentamicin. In conclusion, we would like to emphasize that UTI predominantly by gram negative microorganisms are frequent in the infants with malnutrition, and these microorganisms are mostly resistant to co-trimoxazole which is used commonly in practical medicine and prophylaxis.
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PMID:Urinary tract infection and antibiotic susceptibility in malnourished children. 1122 40

We report the case of a 54-year-old alcoholic female patient who was hospitalized for neurologic alterations along with a severe hyponatremia (plasma Na+: 97 mEq/l). She suffered from potomania and was given, a few days before admission, a thiazide diuretic for hypertension. A careful correction of plasma Na+ levels was initiated over a 48-hour period (rate of correction < 10 mEq/l/24h) in order to avoid brain demyelination. After a 2-day period of clinical improvement, her neurologic condition started to deteriorate. By the 5th day of admission, she became tetraplegic, presented pseudobulbar palsy, ataxia, strabism, extrapyramidal stiffness and clouding of consciousness. Scintigraphic and MRI investigations demonstrated pontine and extrapontine lesions associated with Gayet-Wernicke encephalopathy. After correction of ionic disorders (hyponatremia, hypokaliemia) and vitamin B (thiamine) deficiency, the patient almost completely recovered without notable disabilities. This case illustrates that profound hyponatremia, in a paradigm of slow onset, can be compatible with life. It also demonstrates that demyelinating lesions, usually considered as a consequence of a too fast correction of hyponatremia, may occur despite the strict observance of recent guidelines. There is increasing evidence to suggest that pontine swelling and dysfunction may sometimes occur in alcoholic patients even in absence of disturbance in plasma Na+ levels. It is therefore of importance, while managing a hyponatremic alcoholic patient, to identify additional risk factors (hypokaliemia, hypophosphoremia, seizure-induced hypoxemia, malnutrition with vitamin B deficiency) for brain demyelination and to correct them appropriately.
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PMID:Central and extrapontine myelinolysis in a patient in spite of a careful correction of hyponatremia. 1177 Aug 3

Lisa Capaldini, a physician who treats patients with HIV-related fatigue, discusses symptoms, diagnosis techniques, and treatments of depression, anemia, and various other roots of fatigue in HIV-positive patients. Biochemical depression, caused by abnormal levels of serotonin and norepinephrine in the brain, is easily misdiagnosed or overlooked. Physical and emotional symptoms of depression mirror common effects of HIV such as exhaustion, anger, and irritability. Knowing the history of depression prior to HIV infection, including previous drug abuse and family history of depression, will help to diagnose fatigue. Dr. Capaldini recommends antidepressants provided the condition is properly diagnosed and the side effects are not harmful to the patient. Selective serotonin reuptake inhibitors (SSRI), the most frequently prescribed antidepressants, can cause short term sexual dysfunction. Bupropion and Wellbutrin can be prescribed to avoid this side effect. Psychotherapy can be effective if therapists are familiar with HIV disease and can distinguish between symptoms brought on by behavior, addictive habits, or pre-existing depression. Consideration also must be given to drug interactions, particularly with the antiretrovirals ritonavir and delavirdine, which can cause seizures or disturb cardiac rhythm. Anemia is most noticeable after physical exertion, and symptoms are more evident based on the increased rate that red blood cells move out of the normal range. To determine the course of treatment, physicians need to clarify the cause of anemia. Anemia can be caused by drugs, vitamin deficiencies, or other nutritional problems. Adrenal insufficiency, methemoglobinemia, and malnutrition are also causes of fatigue. Diagnosing fatigue due to hepatitis B or C, rather than HIV, can be achieved by measuring hepatitis levels and observing T cell counts and viral load. Dr. Capaldini suggests that proper diet and exercise prevent fatigue from getting worse.
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PMID:Fatigue and HIV: interview with Lisa Capaldini, M.D. Part II. Interview by John S. James. 1136 84


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