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Biomedical subjects

J H Menkes

Publications and source records attributed to J H Menkes.

At least 19 recordsLinked to original sources
PubMed1998

Menkes disease. New ocular and electroretinographic findings.

OBJECTIVE: The authors describe new ocular and electroretinographic (ERG) features in Menkes disease. DESIGN: The study design is a case report. PARTICIPANTS: The authors studied two patients with Menkes disease. INTERVENTION: The authors performed complete ophthalmologic and ERG evaluations in both patients. MAIN OUTCOME MEASURES: The parameters used were slit-lamp biomicroscopy and ERG recordings. RESULTS: Aberrant lashes and anterior stromal hypoplasia of the iris are new findings, and profound delays in b-wave implicit time in well-developed photopic responses may be added as new ERG features. CONCLUSIONS: Patients with Menkes disease may have aberrant lashes, anterior stromal hypoplasia, and retinal degeneration.

Electroretinography↗
PubMed1994

Clinical and MR correlates in children with extrapyramidal cerebral palsy.

PURPOSE: To identify the characteristic MR findings in extrapyramidal cerebral palsy. METHOD: Six patients who had suffered intrapartum asphyxia and who subsequently developed extrapyramidal cerebral palsy were identified. Asphyxia was evidenced by severe neonatal systemic acidosis as documented by a venous cord pH of less than 7.0 whenever available, or acidosis in subsequent arterial blood gas samples, and clinical signs of an acute hypoxic-ischemic encephalopathy during the neonatal period. In addition, 1- and 5-minute Apgar scores were 3 or less, and there had been need for intubation or vigorous resuscitation in the delivery room. There were three boys and three girls, all born at term, with birth weight appropriate for gestational age, and without a history of bilirubin levels above 15 mg/dL. MR imaging at 1.5 T was performed between 1 and 19 years of age. RESULTS: In all subjects focal high signal abnormality was demonstrated in the posterior putamen and the anterior or posterior thalamus. There were no other findings in most cases. CONCLUSION: MR demonstrated lesions in the putamen and thalamus in all of our six patients with severe extrapyramidal cerebral palsy who had suffered intrapartum asphyxia.

Adolescent↗
PubMed1993

Unusual dyskinesia complicating cardiopulmonary bypass surgery.

Four infants developed dyskinesia after cardiopulmonary bypass surgery three to four days postoperatively. The dyskinesia was choreoathetotic, and involved mainly the mouth, tongue and face. It was absent during sleep. Three of these infants improved over periods of several weeks, but one infant remained dyskinetic one year postoperatively. Neuro-imaging studies and EEGs were of little value in determining the cause of the dyskinesia. The factors responsible for the involuntary movements and for their severity remain unexplained.

Cardiopulmonary Bypass↗
PubMed1991

A neurobehavioral syndrome after failure to thrive on chloride-deficient formula.

Eleven of 13 children, who demonstrated a failure-to-thrive pattern in infancy attributable to chloride-deficient Neo-Mull-Soy formula, had distinctive cognitive impairments four to nine years later. These included: a language disorder primarily involving articulation, word finding and naming; visual-motor and fine motor difficulties; and attention deficit disorder, often featuring repetitive behaviours, withdrawal and perseveration ('overfocus'). In contrast, global intellectual abilities were within the normal range in all 11 children. This residual neurobehavioral syndrome is too rare in the developmentally disabled population to reflect a chance association. It has not been associated either with protein-calorie malnutrition or chloride-deficiency diseases.

Body Height↗
PubMed1990

The leukodystrophies.

Explore the source record for details and available documents.

Diffuse Cerebral Sclerosis of Schilder↗
PubMed1990

Detection of point mutations associated with genetic diseases by an exon scanning technique.

A major challenge in genetics is identifying the basis of human heritable disease. We describe an "exon scanning" technique which surveys exons in genomic DNA for sequence alterations. By hybridizing genomic DNA to RNA probes derived from cDNAs, we can use RNase A to survey entire coding regions, comprising exons spread across extensive regions of genomic DNA, for mutations associated with genetic disease. Exon scanning of the beta-globin locus in the DNA of patients with 12 different hemoglobinopathies detected all of the culpable single base substitutions and deletions, but not single base insertions. Our analysis also revealed unsuspected polymorphisms and corrected a diagnosis originally based on hemoglobin electrophoresis. Exon scanning of the ornithine aminotransferase gene in a gyrate atrophy patient detected and localized a mutation in the sixth exon. Subsequent PCR amplification and sequencing characterized this as a missense mutation (proline----glutamine). Exon scanning of genomic DNA for sequence alterations, in combination with PCR amplification and sequencing, should be a generally useful strategy for evaluating suspect genes in disorders of unknown etiology, as well as for clinical diagnosis.

Base Sequence↗
PubMed1990

Workshop on neurologic complications of pertussis and pertussis vaccination.

A multidisciplinary workshop held from September 29 to October 1, 1989, at Airlie House, Warrenton, Virginia, considered the neurologic complications of whooping cough and pertussis vaccine. Pertussis mortality in the U.S. in 2-3/1000 cases. Seizures occur in 1.9% of cases, and encephalopathy in 0.3%. Reviewing all data, it appears likely that a combination of one or more bacterial toxins, asphyxia, CO2 retention and loss of cerebral vascular autoregulation is responsible for neurologic symptoms. The timing of the encephalopathy suggests that it results from increased lysis of bacteria, and release of endotoxin. The encephalopathy is not confined to the paroxysmal phase. In evaluating side-reactions to the vaccine, the following must be kept in mind: 1. Vaccines are not standardized between manufacturers. 2. For a given manufacturer, vaccines are not standard from one batch to the next. 3. Unless the vaccine is properly prepared and refrigerated, its potency and reactivity varies with shelf life. In fact, the whole question of vaccine detoxification has never been systematically investigated. Listed in order of increasing severity, observed adverse reactions include irritability, persistent, unusually high pitched crying, somnolence, seizures, a shock-like "hypotensive, hyporesponsive" state, and an encephalopathy. Since the neurologic picture is not specific for pertussis vaccination, its temporal relationship to the vaccination is the critical variable for determining causation. Although the majority of seizures following pertussis vaccination are associated with fever, it was the consensus of the neurologists attending the workshop, that these do not represent febrile convulsions, but are non-benign convulsions. The incidence of post-vaccine encephalopathy is difficult to ascertain.(ABSTRACT TRUNCATED AT 250 WORDS)

Diphtheria-Tetanus-Pertussis Vaccine↗
PubMed1988

Kinky hair disease: twenty five years later.

Kinky hair disease, first described in 1962, is a sex-linked disorder, with its gene located on the long arm of the X chromosome close to the centromere. The condition is marked by intellectural deterioration, seizures, and poorly pigmented, friable hair. Bony changes, resembling scurvy, tortuosities of the cerebral and systemic vasculature, and diverticuli of the bladder are also seen. Biochemically, the most diagnostic alteration is a marked reduction in blood copper and ceruloplasmin levels. The mechanism for the low serum copper has not been defined. Even though parental copper administration will correct the biochemical abnormalities, such treatment will not arrest cerebral deterioration.

Brain↗
PubMed1988

Encephalitis lethargica-like illness in a girl with mycoplasma infection.

We describe a patient with mycoplasma infection and clinical manifestations of encephalitis lethargica. The patient was brought to our attention after acute neurologic deterioration followed by a prolonged sleep-like state and the emergence of extrapyramidal features. MRI of the brain disclosed a striking pattern of subcortical involvement by the inflammatory process, corroborating the clinical picture.

Brain↗