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 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.
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PMID:Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. 766 99

The clinical characteristics and neurologic outcome of 15 newborn infants with seizures due to hypocalcemia and hypomagnesemia have been studied with careful exclusion of those patients who had other possible etiologies for seizures. Associated diagnoses included severe congenital heart disease in 7 of 15 (47%) patients. Possible causes for this association with congenital heart disease include a forme fruste of DiGeorge syndrome, hypocalcemia and hypomagnesemia due to critical illness, and subtle embolic cerebral ischemia. In contrast with previous studies, no abnormalities of formula milk feeding were observed. Five patients (36%) died of causes unrelated to seizures. Follow-up in 8 of 9 patients who had no cerebral insults other than neonatal seizures at a mean age of 57.8 +/- 10.5 months found neurologic abnormalities in 2 (22%), both with an endocrine etiology for hypocalcemia. We conclude that infants with severe congenital heart disease should be investigated for hypocalcemia and hypomagnesemia. Previous observations of a universally favorable neurologic outcome in newborns with hypocalcemic or hypomagnesemic seizures may be valid for those who have a nutritional etiology for the metabolic disturbance but are less relevant to the current population in whom hypocalcemia or hypomagnesemia due to errors in formula milk feeding is seldom observed. In this group, neurologic prognosis may be more related to associated medical conditions.
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PMID:Natural history and outcome of neonatal hypocalcemic and hypomagnesemic seizures. 798 88

Health-related quality of life (HRQOL) of 166 adults who had previously undergone surgical treatment for intractable epilepsy was compared with that of outpatients with hypertension, diabetes, heart disease, and/or depressive symptoms. Eight self-reported HRQOL domains were evaluated and compared by the RAND 36-Item Health Survey 1.0: emotional well-being, social function, role limitations due to emotional problems, energy/fatigue, pain, role limitations due to physical problems, physical function, and general health perceptions. A pictorial item on overall QOL was also administered, for a total of 9 HRQOL domains. With adjustment made for age, gender, education, and comorbid conditions, 55 completely seizure-free patients scored higher (i.e., better health) than patients with hypertension in 6 of 9 domains, higher than diabetic patients in 8 of 9, higher than those with heart disease in all 9, and higher than those with depressive symptoms in all 9 (all p < 0.05). Sixty-seven patients still having seizures with impaired consciousness scored worse than hypertensive patients in 5 domains, worse than diabetic patients in 3, and worse than heart disease patients in 2; for all 3 conditions, these domains included emotional well-being and overall QOL (p < 0.05). These 67 patients, however, scored better than patients with depressive symptoms in all 9 domains, better than those with heart disease in 2, and better than those with diabetes in 1 (all p < 0.05). Forty-four other patients had only simple partial seizures (SPS); their scores were comparable to those of diabetic and heart disease patients on mental and social health scales but were higher ("better") than those of these patients on physical health scales. HRQOL among patients who have undergone "curative" epilepsy surgery is better than that of patients who have hypertension, diabetes, heart disease, or depressive symptoms. Patients who have continued seizures with altered consciousness are worse off in terms of emotional well-being and overall QOL than all other patients, except for those with depressive symptoms.
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PMID:Quality of life of epilepsy surgery patients as compared with outpatients with hypertension, diabetes, heart disease, and/or depressive symptoms. 802 6

The safety of autologous blood donation by "high-risk" patients (those with some preexisting medical conditions) has been questioned. The authors reviewed 1393 consecutive blood donation records (207 high-risk autologous [HRA], 665 non-high-risk autologous [NHRA], and 521 directed donors [DD]) to determine the safety and outcome of blood donation by HRA patients as compared with other donors at their center. The HRA group included patients with a history of significant coronary artery on cerebral vascular disease, recent seizures, cardiac arrhythmia, chronic heart failure, valvular or congenital heart disease, symptomatic dyspnea, insulin-dependent diabetes and/or current therapy with two or more antihypertensive medications. Those designated NHRA were all other autologous donors; DD met all criteria for homologous donation. Donor characteristics including predonation hematocrit, pre- and postdonation mean arterial pressure and heart rates were similar in all groups. Eight HRA donors (3.9%) had reactions, compared with 21 NHRA (3.2%) and 23 DD (4.4%), a difference that was without statistical significance. The reaction rate in all autologous donors (HRA and NHRA) was 3.4%. No differences in symptoms reported, hemodynamics or reaction severity were observed among the three groups (P > .05). A multiple logistic regression was performed within and among the groups with the risk factor categories listed above and medication classes including beta blockers, cardiac glycosides, calcium-channel blockers, antihypertensive agents, nitrates, and antiarrhythmic agents (chi 2 = 14.9; P = .0006). Only first-time donation (P = .0001) and cardiac glycoside usage (P = .04) were positively associated with an untoward reaction. The authors conclude that donation by HRA donors is at least as safe as that by donors who meet homologous donation criteria in their population and setting.
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PMID:Comparable safety of blood collection in "high-risk" autologous donors versus non-high-risk autologous and directed donors in a hospital setting. 787 63

This self-directed learning module highlights the preexisting comorbid conditions and the medical complications during and after rehabilitation of the patient with stroke. Part of the chapter on stroke rehabilitation in the Self-Directed Medical Knowledge Program for practitioners and trainees in physical medicine and rehabilitation, this article identifies several of the major associated medical problems, such as venous thromboembolism, pneumonia, seizure, and pressure sore; discusses methods of management for each of these problems; and reviews implications of associated conditions, such as heart disease, diabetes, and hypertension, and secondary complications for rehabilitation and outcome.
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PMID:Stroke rehabilitation. 2. Comorbidities and complications. 818 63

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.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

An unselected series is presented of 17 infants born to epileptic mothers and exposed to sodium valproate during pregnancy. Nine infants had minor abnormalities and of these infants five also had major malformations, described as the 'fetal valproate syndrome'. The most frequent malformation was congenital heart disease. Nine of the infants had manifestations of withdrawal, such as irritability, jitteriness, abnormalities of tone, seizures, and feeding problems. Four of these infants had an unrelated hypoglycaemia. The frequency of withdrawal symptoms was significantly related to the dose of valproate given to the mothers in the third trimester, and there was a tendency for both the frequency of the minor abnormalities and the major malformations to be related to the valproate dosage in the first trimester.
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PMID:Malformations, withdrawal manifestations, and hypoglycaemia after exposure to valproate in utero. 821 67

Sixty cases of brain abscesses in patients with cyanotic heart disease is reported. Forty four (73.3%) belonged to pediatric age group. There was only single case of infratentorial abscess located in the cerebellar paravermian region. The abscesses were multiloculated in 42%, multiple in 10% and solitary in 48% cases. Streptococci was the commonest (77%) micro-organism isolated from pus culture. Forty eight patients were treated by aspiration through twist drill, 7 patients conservatively and 5 had primary excision of abscesses. Forty four patients improved in their neurological status, three had fixed neurological deficits and 5 patients deteriorated further. There were 8 deaths. Complication like cyanotic spells was recorded in 17% cases treated by aspiration. None of the patients treated by twist drill aspiration had seizure. It is suggested that aspiration of abscesses through twist drill hole and antibiotic therapy could be the treatment of choice. Vascular slowing in a localised area resulting in infraction and thus preparing the focus for abscess formation is the possible mechanism in the evolution of these abscesses.
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PMID:Brain abscesses in cyanotic heart disease. 824 85

From 1986 to February 1993, 40 children aged 2 months to 18 years (average age 10.4 +/- 5.8 years) underwent heart transplantation. Indications for transplantation were idiopathic cardiomyopathy (52%), congenital heart disease (35%) with and without prior repair (71% and 29%, respectively), hypertrophic cardiomyopathy (5%), valvular heart disease (3%), and doxorubicin cardiomyopathy (5%). Patients were managed with cyclosporine and azathioprine. No prophylaxis with antilymphocyte globulin was used. Steroids were given to 39% of patients for refractory rejection, but weaning was always attempted and generally successful (64%). Five patients (14%) received maintenance steroids. Four patients died in the perioperative period and one died 4 months later. There have been no deaths related to rejection or infection. Average follow-up was 36 +/- 19 months (range 1 to 65 months). Cumulative survival is 88% at 5 years. In patients less than 7 years of age, rejection was monitored noninvasively. In the first postoperative month, 89% of patients were treated for rejection. Freedom from serious infections was 83% at 1 month and 65% at 1 year. Cytomegalovirus infections were treated successfully with ganciclovir in 11 patients. No impairment of growth was observed in children who underwent transplantation compared with a control population. Twenty-one patients (60%) have undergone annual catheterizations and no sign of graft atherosclerosis has been observed. Seizures occurred in five patients (14%) and hypertension was treated in 10 patients (28%). No patient was disabled and no lymphoproliferative disorder was observed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Pediatric heart transplantation without chronic maintenance steroids. 831 43

There are health requirements for acquiring and renewing a driver's license. Physicians are legally obliged to inform the local health authorities when a patient no longer meets these health requirements. This paper describes the current Norwegian legislation, formalities of administration, and practice of traffic medicine. Visual acuity, field of vision, seizures, heart disease, diabetes mellitus, abuse of alcohol and drugs, psychiatric disorders, aging and dysfunction of the locomotor system are discussed in brief.
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PMID:[Driver's licenses and medicine. A review of legal requirements and practice]. 836 98


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