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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three independent complex segregation analyses found that the cause of Attention Deficit/Hyperactivity Disorder (ADHD) was the presence of major genes interacting with environmental influences. In order to identify potential environmental risk factors for ADHD in the Paisa community--a very well described, genetically isolated group--we randomly selected a sample of 486 children between 6 and 11 years of age. This group included 200 children with ADHD (149 males and 51 females) and 286 healthy controls (135 males and 151 females). The ADHD DSM-IV diagnosis was obtained using the DICA and BASC evaluation instruments, and the children's mothers or grandmothers filled out a questionnaire on each child's exposure to prenatal, neonatal, and early childhood risk factors. The data were analyzed using cross tabulation and stepwise logistic multiple-regression analyses. Cross tabulation associated ADHD with a variety of factors, including miscarriage symptoms, premature delivery symptoms, maternal respiratory viral infection, moderate to severe physical illness in the mother during gestation, prenatal cigarette and alcohol exposure, neonatal seizures, asphyxia or anoxia, severe neonatal illness, mild speech retardation, moderate brain injury, and febrile seizures (odds ratio >or= 2, P < 0.05). Stepwise logistic multiple-regression analysis also uncovered a block of variables, including male gender, maternal illnesses, prenatal alcohol exposure, mild speech retardation, febrile seizures, and moderate brain injury (odds ratio >or= 2.0, P < 0.05). Future studies on the risk of developing ADHD must include these environmental factors as covariates.
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PMID:Environmental influences that affect attention deficit/hyperactivity disorder: study of a genetic isolate. 1748 41

A patient with isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency with an unusual clinical presentation is described. The patient presented with clusters of seizures with two or three months disease free interval in the first year of life which then evolved into attacks of status epilepticus after the age of 12 months. MCC deficiency was suspected because of elevated C5-OH-carnitine in tandem mass spectrometry and elevated 3-hydroxy-isovaleric acid in urine organic acid analysis. Deficiency of MCC was confirmed in cultured fibroblasts and mutation analysis revealed a novel mutation in MCCB, p.S39F. Attacks of status epilepticus as a predominant symptom have not been described before in isolated MCC deficiency.
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PMID:Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. 1786 68

3-9% of schoolchildren in the U.K. suffer Attention Deficit and Hyperactivity Disorder (ADHD). Since the 1950s stimulants have been used. particularly methylphenidate and dextroamphetamine, with some 75% response rate. The first non-stimulant medication--atmoxetine hydrochloride, has also been used. However, side effects have included: growth retardation; appetite loss: headache: stomachache: heart problem: insomnia: seizure; change of character: addiction or even suicidal thoughts. Alternative treatments have been used including omega-3s, yet the way they benefit in ADHD is uncertain. They may be important in remodelling dendrites and synapses, and/or sustaining: blood brain barrier, neuronal membrane. neurotransmitter channel, receptors and ion channel. Stevens in 2003 found long-chain polyunsaturated fatty acids (LCPUFAs) effective for oppositional defiant disorder, whereas Eicosapentaenoic acid (EPA) specifically was helpful with disruptive behaviour. Docosahexaenoic acid (DHA) is important during gestation and early infancy, particularly for neurodevelopment. The Durham Trial by Richardson published in 2005, tested omega-3s with omega-6s on schoolchildren with developmental coordination disorder (many of them had ADHD symptoms), improving scores in co-ordination and short term memory.
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PMID:Attention deficit disorders--drugs or nutrition? 1830 64

Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.
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PMID:Effect of nutritional support in children with spastic quadriplegia. 1894 May 56

Cortical spreading depression (CSD) is a brain electrical response related to neural activity and probably also related to diseases like migraine and epilepsy. Adverse conditions like malnutrition and exposure to a warm environment early-in-life can permanently alter brain development, changing electrophysiological features of the brain responses and rendering the brain prone to febrile seizures. Here we investigated the lasting effects of heat exposure on brain CSD propagation in well-nourished and malnourished developing rats. From postnatal days 10-29, rats were exposed to daily sessions (one session per day, five sessions per week during 3 weeks; total of 15 sessions) of a warm environment (40+/-2 degrees C). At 30-40 days and 90-120 days of life (young and adult age-ranges, respectively), they were anesthetized (urethane+chloralose; 1000 + 40 mg/kg ip) and the electrocorticogram plus the slow potential change accompanying CSD were recorded on two parietal points for 4h. Compared to controls (maintained on the normal environment temperature, 23+/-2 degrees C), heat-exposed rats displayed higher CSD velocities of propagation (P<0.05; ANOVA plus Tukey test) at both age-ranges and nutritional statuses. The mean+/-S.D. CSD velocities (in mm/min) were: for control- and heat-exposed well-nourished rats, 3.75+/-0.15 and 4.17+/-0.19 (young groups), and 3.33+/-0.06 and 3.88+/-0.26 (adult); for the same control and heat exposure conditions in the malnourished rats, 4.30+/-0.22 and 5.31+/-0.46 (young), and 4.18+/-0.20 and 4.88+/-0.35 (adult). In contrast to early malnutrition, heat exposure did not affect body and brain weights. Data support the hypotheses that (1) early heat exposure long-lasting facilitates CSD propagation and (2) this effect is not modified by early malnutrition.
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PMID:Exposure of developing well-nourished and malnourished rats to environmental heating facilitates cortical spreading depression propagation at adulthood. 1942 87

Ten out of 20 children, treated with usual doses of vincristine for various types of childhood cancers, developed neurotoxicity during treatment. Peripheral neurotoxicity (mixed motor-sensory 4/10, pure motor 3/10, pure sensory 3/10) was seen in the form of weakness of lower limbs, areflexia, neuropathic pain, or sensory loss. Autonomic neuropathy presented as constipation and urinary retention in 2 children, while 2 children developed encephalopathy in form of seizures, confusion, aphasia, and transient blindness. In children with severe neuropathy, vincristine administration was withheld/dose reduced till clinical improvement started, which took about 2-3 weeks time. Nerve conduction velocity showed motor-sensory axonal polyneuropathy. Electrophysiological abnormalities were found to persist even six months after clinical recovery in children with neurotoxicity. We found a relatively higher incidence of vincristine induced neuropathy in Indian children, which was probably due to coexistence of severe malnutrition in them.
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PMID:Vincristine induced neurotoxicity in cancer patients. 1993 61

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients.
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PMID:3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures. 2019 94

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions results in CISS1 and CISS2, respectively. So far, only a single patient with CISS2 has been reported. Here we describe four new cases of CISS, two additional patients with CISS2 (confirming locus heterogeneity) and two patients with CISS1. Their case histories are given in detail to emphasize the striking similarity of their presentation, which makes a clinical differentiation impossible. All four cases had a uniform presentation in the neonatal period, much like Crisponi syndrome - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated seizures or even sudden death; erythematous skin rashes; and camptodactyly. Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. Signs abate during infancy and most children have a normal psychomotor development. During the first decade all children develop scoliosis and abnormal sweating which is the most disabling symptom in adulthood. We report that cold-induced sweating can be effectively treated. Detailed clinical observations, correlated with the findings from basic science research, may serve to elucidate the role(s) of this important cytokine complex in embryonic and postnatal development.
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PMID:Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 2040 Jan 19

Deficiency in Cathepsin D (CtsD), the major cellular lysosomal aspartic proteinase, causes the congenital form of neuronal ceroid lipofuscinoses (NCLs). CtsD-deficient mice show severe visceral lesions like lymphopenia in addition to their central nervous system (CNS) phenotype of ceroid accumulation, microglia activation, and seizures. Here we demonstrate that re-expression of CtsD within the CNS but not re-expression of CtsD in visceral organs prevented both central and visceral pathologies of CtsD(-/-) mice. Our results suggest that CtsD was substantially secreted from CNS neurons and drained from CNS to periphery via lymphatic routes. Through this drainage, CNS-expressed CtsD acts as an important modulator of immune system maintenance and peripheral tissue homeostasis. These effects depended on enzymatic activity and not on proposed functions of CtsD as an extracellular ligand. Our results furthermore demonstrate that the prominent accumulation of ceroid/lipofuscin and activation of microglia in brains of CtsD(-/-) are not lethal factors but can be tolerated by the rodent CNS.
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PMID:CNS-expressed cathepsin D prevents lymphopenia in a murine model of congenital neuronal ceroid lipofuscinosis. 2048 46

Primary oral myiasis due to Chrysomya bezziana is a rare condition caused by invasion of tissues by larvae of the flies. A case of Oral myiasis is presented in a 12 year old boy with neuro-degenerative disease with seizures. Intra orally, a soft tissue pocket in the left buccal mucosa and a pocket under the palatal mucosa was seen containing maggots. Extra orally indurated erythematous swelling was present near the commissure of the mouth. Predisposing factors identified in the present case were mouth breathing, incompetent lips, low socioeconomic condition, malnutrition, and inability of the child to perform daily activities due to his neurodegenerative disease. Treatment consisted of manual removal of maggots following irrigation and application of turpentine oil along with a single dose Ivermectin 3 mg that was given systemically. Complete healing of the lesion was observed within 10 days without any recurrence for a follow up period of 1 year Medical personnel taking care of old / debilitated / unconscious patients need to bear in mind the possibility of Chrysomya bezziana infestation in them.
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PMID:Primary oral myiasis due to Chrysomya bezziana treated with Ivermectin. A case report. 2057 65


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