Rett syndrome--observational study of 33 families.
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Adolescent↗
Biomedical subjects
S Naidu
Publications and source records attributed to S Naidu.
Rett syndrome and the electroencephalogram.
The EEG is almost always abnormal in patients with Rett syndrome. This is demonstrated in a study based upon 230 EEG records obtained from 44 patients. Rhythmical slowing (mostly 3-5/sec) represents the most common EEG abnormality (30 patients). Diffuse, scattered or bilateral-synchronous spikes or sharp waves were found in 22 patients. Slow spike-wave complexes were present in 9 patients. With advancing age, the EEG abnormalities tend to decline and ill-defined low voltage records may develop. These changes may parallel an intrinsic disease course with an early active phase followed by a phase of residual impairment.
Brain↗
Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in Rett syndrome.
We report on the first positron emission tomographic study of dopamine receptor binding in Rett syndrome. The patient is a 25 year old Austrian woman diagnosed at age 2 and followed since then by Rett. A computed axial tomogram (CT scan) showed cortical atrophy, and enlarged ventricles but normal structure of the caudate/putamen. Following the CT scan 20 mCi of 11 C N-methyl spiperone, a butyrophenone with a high affinity for dopamine D2 receptors was administered intravenously. The patient was found to have dopamine D2 receptor binding activity in the low normal range. The caudate/cerebellar activity ratio was below the mean regression line (p = 0.10) that relates the CA/CB ratio as a function of age. Levels of cerebrospinal fluid neurotransmitter metabolites were normal.
Adult↗
Chromosome studies in 10 patients with the Rett syndrome.
Chromosomes of white blood cells from 10 girls with the Rett syndrome, 9 of their mothers and 17 unrelated controls (5 girls and 12 women) were examined for the presence of the fragile site on Xp22 under different culture conditions. Six of the 10 Rett patients were fra(X)(p22) positive while 4 failed to express this fragile site. In the 6 patients expressing the fragile site it was present in 1 to 3% of all cells. Similarly, 5 of the mothers and 6 of the control women showed this fragile site, with a frequency of 1 to 9%. Concordance analysis showed that in the 9 mother-daughter pairs examined, 5 had concordant results while 4 of the pairs were discordant. These findings are very similar to those found in non-Rett individuals by ourselves and other investigators. These data agree with published findings that fra(X)(p22) is a common fragile site in normal individuals. Therefore, we conclude that the incidence of the Xp22 fragile site in the Rett syndrome does not differ from that found in various non-Rett individuals, including normal persons. This indicates to us that fra(X)(p22) cannot serve as a chromosomal marker for the Rett syndrome.
Adult↗
Evaluation of the effectiveness of permethrin and DDT impregnated bed-nets against Anopheles maculatus.
A laboratory evaluation of cotton and nylon bed-nets treated with permethrin and DDT was carried out by releasing blood-fed An. maculatus for 30 minutes in the treated net. Results show almost 100% mortality up to one year after treatment. A ten minute exposure on the outside of the net also gave similar results. Even after washing the nets continued to give very good results. A method of treating the nets is described.
Animals↗
CNS lesions in neonatal isoimmune thrombocytopenia.
We treated two siblings with classic neonatal isoimmune thrombocytopenia and porencephalic cysts in whom the CNS lesions occurred in a vascular distribution, for which there is no clear explanation. Whether the CNS vasculature is injured by the immune process at certain susceptible sites in larger vessels or whether there is a thrombotic process occurring at sites of vascular injury is speculative. This observation suggests that vascular factors are involved in the development of CNS lesions in this condition.
Brain Diseases↗
Prolonged retention of contrast medium in an hypoxic neonatal brain.
A neonate with hypoxic damage to the brain from a complicated pregnancy and delivery demonstrated a prolonged retention of contrast medium in her cerebral dural veins and brain substance after cardiac catheterization. Myoclonic status epilepticus began during injection of the contrast medium and persisted until its clearance as noted by CT scan. A postmortem examination did not reveal any vascular or congenital abnormalities that would account for these effects.
Diatrizoate↗
Nonketotic hyperglycinemia: treatment with diazepam--a competitor for glycine receptors.
Two female infants with nonketotic hyperglycinemia (NKH) were treated with diazepam for the control of seizures. The first infant had seizures, lethargy, and respiratory distress in the first 24 hours of life. The diagnosis of NKH was made at 3 weeks of age and she was then placed on a regimen of strychnine and a low-protein diet. Strychnine therapy was discontinued after three months of treatment because there was no improvement in the seizure control or in the patient's condition. At 5 months of age the patient was referred to our clinic for further work-up. The second infant had seizures, hypotonia, and respiratory distress shortly after birth. She was treated with phenobarbital and diphenylhydantoin, which had no effect on her seizures. The baby was referred to our clinic at 8 months of age and diagnostic studies revealed NKH. All previous medications were stopped and both infants were placed on diazepam, a competitor for glycine receptors in the CNS. Choline and folic acid were added for one-carbon unit transfer and sodium benzoate to bind excessive glycine. Both infants responded to this treatment with cessation of seizures; they became more responsive and alert, and their EEGs showed remarkable improvement despite the persistence of elevated glycine levels in plasma, CSF, and urine. Diazepam as a competitor for the receptors of glycine may prove helpful in controlling the intractable seizures associated with NKH.
Binding, Competitive↗
Serial CT scans in Haemophilus influenzae meningitis of childhood.
Eleven children admitted to hospital with H. influenzae meningitis had computerized tomographic head scans during the acute stage of the illness. 10 of the 11 had at least one other scan between two weeks and 30 months later. This study evaluated the changes seen in the scans in relation to the evolution of the illness, especially with reference to subdural effusions and communicating hydrocephalus. The early scans were found to have no significance in predicting clinical outcome. However, a temporary developmental lag occurred in those children with subdural effusions, transient communicating hydrocephalus, and without permanent neurological deficit.
Brain↗
Doppler flow and radionuclide scan studies in the evaluation and management of peripheral artery thrombosis in the neonate.
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Female↗
Lysosomal glycogen storage disease with normal acid maltase.
Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid alpha-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently generalized glycogenosis with no demonstrable enzyme defect is unknown.
Acid Phosphatase↗
Armigeres subalbatus incriminated as an important vector of the dog heartworm Dirofilaria immitis and the bird Cardiofilaria in urban Kuala Lumpur.
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Animals↗
Simultaneous recovery of beta-lactamase-negative and beta-lactamase-positive Haemophilus influenzae type b from cerebrospinal fluid of a neonate.
A case of Haemophilus influenzae type b meningitis in a neonate from whom both a beta-lactamase-negative and a beta-lactamase-positive strain were isolated simultaneously is reported. Both bacteriology laboratory technicians and clinicians should be aware of this phenomenon when performing sensitivity tests on H influenzae isolates or treating patients with serious H influenzae infection.
Chloramphenicol↗
Sydenham's chorea: a possible presynaptic dopaminergic dysfunction initially.
A 10-year-old white girl showed chorea with elevated antibody titers indicative of an earlier group A streptococcal infection. Prior to treatment, cerebrospinal fluid homovanillic acid levels were markedly elevated. Haloperidol caused minimal improvement. She was then treated with reserpine alone, which resulted in remarkable improvement within one week. A repeat lumbar puncture one month after reserpine was started showed moderate reduction of homovanillic acid levels. When reserpine was discontinued, symptoms recurred. The data suggest presynaptic dopaminergic overactivity.
Child↗
Fatal pulmonary hemorrhage in Henoch-Schönlein purpura.
An unusual case of an eight year old boy with Henoch-Schönlein purpura in whom fatal pulmonary hemorrhage developed resulting from leukoclastic vasculitis of the lungs is presented herein.
Child↗
Juvenile parkinsonism: a patient with possible primary striatal dysfunction.
A 15-year-old boy who initially manifested dystonic features and later developed classic parkinsonism is described. Cerebrospinal fluid homovanillic acid levels were normal or slightly elevated both before and after administration of probenecid. The patient responded favorably to treatment with levodopa and carbidopa. The normal or slightly elevated cerebrospinal fluid homovanillic acid levels contrast with the low levels usually seen in adult parkinsonian patients. The data on this patient suggest direct neostriatal involvement rather than depletion of neurons of the substantia nigra. Juvenile parkinsonism may have at least two distinct pathological forms, but they have similar clinical features and a similar response to treatment.
Adolescent↗
Effects of actodigin on the heart.
Actodigin is a new semisynthetic cardiac glycoside reported to have a rapid onset and brief duration of action in dogs. Five patients with congestive heart failure in normal sinus rhythm were given incremental doses of actodigin. Overall, there was no significant change in heart rate, aortic or pulmonary artery pressure, systemic vascular resistance, cardiac index, and stroke volume. This lack of response to actodigin is consistent with previous reports of acute administration of other cardiac glycosides. Four patients with atrial fibrillation and a rapid ventricular rate were given similar doses of actodigin. The ventricular rate was readily controlled. After drug administration was stopped, the ventricular rate quickly returned toward predrug levels. Thus, the rapid onset and brief duration of action of actodigin may be useful in the initial management of atrial fibrillation.
Adult↗
Unusual echocardiographic manifestation of pericardial effusion.
Echocardiographic and sector scanning examinations were performed in a patient with pericardial effusion. In addition to the demonstration of fluid posterior to the left ventricle and anterior to the right ventricle, as in most significant pericardial effusions, there was an echo-free space representing fluid recorded posterior to the left atrium. Several possible explanations of this finding are offered.
Adult↗