Biomedical subjects

I Bruck

Publications and source records attributed to I Bruck.

32 records · Page 2Linked to original sources

PubMed1998

[Prevalence study of biotinidase deficiency in newborns].

INTRODUCTION: Biotinidase deficiency is an inheritable disorder of biotin metabolism. This disorder fulfills major criteria for consideration for newborn screening: the affected children do no show clinical signs in the newborn period; the disease is highly disabling; treatment is effective in preventing neurological sequelae if undertaken promptly. MATERIAL AND METHODS: Screening of 125,000 infants born in Paraná State was carried out to establish the prevalence of biotinidase deficiency. A simple colorimetric procedure was used to detect two infants with biotinidase deficiency (1:62,500), one of them with profound deficiency (1:125,000) and the other with partial deficiency (1:125,000) of the enzyme. RESULTS: There were no known false-negative test results and 0.12% were false-positive, defined by further blood samples which were negative upon repeated testing. Sensitivity was 100% and specificity was 99.88%. Repeat blood samples could not be obtained in 63 (30%) suspected cases. CONCLUSIONS: Newborn screening for biotinidase is useful in identifying affected children, is inexpensive and allows early intervention, which may prevent irreversible neurological damage.

Amidohydrolases↗

PubMed1997

[Electron microscopy study in neurodegenerative diseases in childhood].

Neurodegenerative diseases are a group of disorders in which there is storage of abnormal material in cells throughout the body due to an enzyme defect. The authors present the experience in the diagnosis of the neurodegenerative diseases in infancy by electron microscopical study of skin, conjunctival and rectum material of 89 patients and 2 necropsy cases. The age of the patients ranged from 49 days to 13 years with speak age of incidence in first year of life (n = 28). Fifty patients were female and 39 were male. The most frequent sites of biopsy were the skin and conjunctival. Of the total 89 patients, 15 had a definitive diagnosis (16.8%) including 4 cases of gangliosidosis, 3 cases of mucopolysaccharidosis, a case of Gaucher's disease, a case of Niemann-Pick disease, 3 cases of neuronal ceroid lipofuscinosis and 3 cases of storage disease which could not be specified. The authors studied all these patients within clinic and ultrastructural aspects and concluded that electron microscopy is an important method in diagnosis of storage diseases but with a low sensitivity as a single "screening" test for patients with progressive encephalopathy.

Adolescent↗

PubMed1996

Purification of a soluble UmuD'C complex from Escherichia coli. Cooperative binding of UmuD'C to single-stranded DNA.

The Escherichia coli UmuD' and UmuC proteins play essential roles in SOS-induced mutagenesis. Previous studies investigating the molecular mechanisms of mutagenesis have been hindered by the lack of availability of a soluble UmuC protein. We report the extensive purification of a soluble UmuD'C complex and its interactions with DNA. The molecular mass of the complex is estimated to be 70 kDa, suggesting that the complex consists of one UmuC (46 kDa) and two UmuD' (12 kDa) molecules. In contrast to its inability to bind to double-stranded DNA, UmuD'C binds cooperatively to single-stranded DNA as measured by agarose gel electrophoresis and confirmed by steady-state fluorescence depolarization. A Hill coefficient, n = 3, characterizes the binding of UmuD'C to M13 DNA and to a 600 nucleotide DNA oligomer, suggesting that at least three protein complexes may interact cooperatively when binding to DNA. The apparent equilibrium binding constant of UmuD'C to single-stranded DNA is approximately 300 nM. Binding of the complex to a short, 80 nucleotide, DNA oligonucleotide was detectable by fluorescence depolarization, but it did not appear to be cooperative. Binding of UmuD'C to single-stranded M13 DNA causes an acceleration of the protein-DNA complex, suggesting that the longer DNA may undergo compaction. The UmuD'C complex associates with RecA-coated DNA, and the UmuD'C complex remains bound to DNA in the presence of RecA.

Amino Acid Sequence↗

PubMed1996

Bilateral perisylvian syndrome not related to malformations: report of two cases.

In this case report we present the neuroimaging findings and clinical features of two patients with a bilateral perisylvian syndrome not related to malformations, but probably to ischemic etiology. Evaluations including history, general and neurologic examinations, electroencephalograms, and imaging data were reviewed as recent literature about the subject.

Adolescent↗

PubMed1996

[Acute hepatic failure associated with valproic acid in children. Report of 3 cases].

We report the cases of three epileptic children who developed hepatotoxicity induced by valproic acid. Two patients had developmental delay. Including the one who died, all patients were receiving polytherapy (carbamazepine in two and phenobarbital in one). The patients age ranged from 2 years and 8 months to 5 years and 1 month. The onset of hepatic complications occurred within 6 months of valproate therapy in two patients and 12 months in one. All patients developed the classical clinical signs of hepatotoxicity. Vomiting, edema and jaundice were the initial symptoms. Fever occurred in two patients. The serum levels of glutamic oxaloacetic transaminase were mildly elevated with a maximum of 194 IU. The bilirubin levels ranged from 5.5 to 19.8 mg%. Two patients recovered clinically and showed normalization of the laboratory abnormalities and one had fatal course. The hepatotoxicity must be considered as a side effect of valproic acid mainly in children under two years age, with polytherapy regimen and neurologic damage. The hepatic insufficiency can be reversible.

Anticonvulsants↗

PubMed1996

[Idiopathic lumbosacral plexus neuropathy in child. Case report].

We describe a lumbosacral plexus neuropathy case in childhood in which detailed investigation, including electromyography and magnetic resonance imaging, was normal. Muscle biopsy showed mild denervation. No underlying condition was detected. The patient presented with pain, weakness and light atrophy in left lower limb, reduced reflex at the ankle, loss of the quadriceps reflex and paresthesy in involved limb. Recovery after one year was almost complete, with persistent slight weakness and atrophy.

Child↗

PubMed1994

[Neuronal ceroid-lipofuscinosis. Report of 4 cases with study by rectal histochemistry, conjunctiva electron microscopy and necropsy].

The authors present the neuropathological and clinical findings of four cases of ceroid lipofuscinosis or Batten's disease. In two cases the autopsy findings showed brain atrophy and nerve cells packed with cytoplasmic granules compatible with lipofuscin. One case was diagnosed by histochemical techniques in frozen sections of rectal biopsy which showed myoenteric ganglion cells with cytoplasmic acid phosphatase positive material as well as numerous macrophages filled with lipofuscin in the mucosae. The fourth case diagnosed by electron microscopy of conjunctival biopsy which showed cytoplasmic inclusions of membranous, curvilinear and fingerprint types.

Adolescent↗

PubMed1991

Difference in early development of presumed monozygotic twins with Rett syndrome.

Normal early development has generally been insisted on as an essential criterion for the diagnosis of Rett syndrome. A new set of monozygotic female twins is reported. Twin 1 was considered to be abnormal from birth while delay was not suspected in twin 2 until she was about one year old. Some regression occurred during the second year in both twins, who are now clinically indistinguishable from each other at age 4 years. Other than a slight difference in head circumference at birth, no environmental factor which could account for the clinical difference has been identified.

Child, Preschool↗

PubMed1991

[Neurocysticercosis in childhood. I. Clinical and laboratory diagnosis].

Clinical and laboratory findings among 34 children (age range from 15 months to 13 years) with neurocysticercosis were reviewed. The main symptoms were: intracranial hypertension, 21 cases (62%); epilepsy, 20 cases (59%); hemiplegia, 4 cases (12%). Computed tomography (CT) in 33 children showed typical brain active cysts in 26 patients (79%) and calcifications in 2 (6%). The complement fixation reaction or the indirect immunofluorescent test for cysticercus antibody were positive in CSF in 77% (20 out of 26 patients) and serum in 78% (18 out of 23 patients). CSF pleocytosis was found in 57% of the cases (15/26 patients) with eosinophil cells in 27% (7/26 patients). The most efficient diagnostic test was CT scan of the head, and was confirmed immunologically by measurement of cysticercus antibody titers in CSF and serum.

Adolescent↗

PubMed1991

[Neurocysticercosis in childhood. II. Computed tomography of 24 patients according to symptomatic and praziquantel treatment].

We studied 24 children (15 months to 13 years old) which clinical, CSF and CT findings were compatible to the diagnosis of active neurocysticercosis. The patients were divided into three groups based on the type of treatment: Group I (10 patients) treated with analgesics and/or anticonvulsants; Group II (4 patients) treated with analgesics and or anticonvulsants and corticosteroids; Group III (10 patients) treated with analgesics and/or anticonvulsants, corticosteroids and praziquantel. The first patients CT scan were compared with the sequential CT scan findings (1 month to 5 years). The initial CT scan of 12 patients showed multiple active cysts, in 5 patients an isolated active cyst, in 3 patients partial calcified cysts, in 2 patients cerebral edema and in 2 patients were normal. The final results of the three groups of patients, as far as concern the normalization of CSF abnormalities or calcification of the cysts were the same, no matter the type of treatment applied to them. These results, although the small number of patients, showed that most of the children have good final results, with improvement of clinical symptoms and CT findings. We suggest that neurocysticercosis in children need multicenter study. So, a great number of patients can be followed and better definition can be established on the treatment of neurocysticercosis.

Adolescent↗

PubMed1990

[Rett syndrome: report of 7 cases].

The authors report the clinical and laboratory findings of seven girls with the diagnosis of Rett syndrome seen at the clinic from August 1978 to October 1988. The patient's age varied from two to ten years and they were followed up for 5 years and 9 months in average. The development milestone started to deteriorate between five and twenty-four months. Acquired microcephaly was present in six patients and three cases had hyperventilation. Generalized tonic-clonic seizures were the most frequent type of seizures (6 patients) beginning between one and seven years and effectively controlled with carbamazepine. The EEG's abnormal findings were spike discharges (5 patients) and paroxysmal high-amplitude theta activity (4 patients). The remaining laboratory tests were unremarkable. The pathogenesis of Rett syndrome has not been determined. The clinical evaluation is intended to contribute to the knowledge of that rather uncommon disease.

Child↗

PubMed1980

[Metachromatic leukodystrophy: report of 2 cases with histochemistry of nerves and muscles].

Two cases of metachromatic leukodystrophy, of the late infantile form are reported. The patients were a girl and a boy of 2 years 10 months old, with initial normal development, but by the age of 18 months began with gait disturbances, difficulty to speak and developed progressive mental deterioration, with signs of long tract involvement, absence of deep tendon reflexes, spasticity, blindness, muscle atrophy and finished in a vegetative state. The diagnosis was made electromyography (signs of denervation), motor nerve conduction velocity (very decreased), assay of arylsulfatase A in the urine (absence of activity), sural nerve biopsy (demyelination and presence of metachromatic granules by the cresyl-violet and toluidine blue) and muscle biopsy (atrophy of type I fibers and presence of metachromatic material in the intramuscular nerve fibers). A quick revision about diagnostic methods, transmission, pathogenesis and variant forms is made.

Cerebroside-Sulfatase↗

PubMedDate not supplied

[Epidermal nevus syndrome - a case report]

OBJECTIVES: To present the case of a patient with an epidermal nevus since birth and its relationship to neurologic signs and symptoms, emphasizing the importance of cutaneous manifestations as early markers of syndromes involving the Central Nervous System. METHODS: Clinical, radiological and histopathological data were analyzed. RESULTS: We report the case of a boy with an erythematous lesion on the neck and cheek since birth. At 9 months the lesion was velvety and slightly brown in color, with associated hemihypertrophy of the face. After 3 months he was hospitalized for having seizures. Computerized tomography of the brain disclosed hemimegalencephaly ipsilateral to the cutaneous lesions. DISCUSSION: The cutaneous findings can be an indicator of neurologic disease since both tissues have the same embryological origin: the neural crest. Thus, the Pediatrician must recognize these cutaneous signs which appear early in life and characterize some of the Neurocutaneous Syndromes so that a proper diagnosis and follow-up can be made.

Journal Article↗

PubMedDate not supplied

[Krabbe s disease - case report]

OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination showed microcephaly and diffuse pigmentation of the retinae. Neurological examination showed flexion of upper limbs with spastic hyperthony, symmetrical global hyperreflexia, nystagmus and spontaneous spasms. EEG showed multifocal irritative activity. There was increase in both CSF protein and gamaglobulin. The patient evolved with transitory hyperthermia, vomiting and pneumopathy, dying on the 23rd day after admission. Post mortem studies revealed microcephaly with widening of brain sulci. Histological examination revealed several globoid cells in the deep portion of the white matter, reactive gliosis and demyelination. CONCLUSIONS: These findings were similar to those in the world literature, indicating a poor prognosis due to substantial brain damage.

Journal Article↗