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Biomedical subjects

R Weitz

Publications and source records attributed to R Weitz.

At least 19 recordsLinked to original sources
PubMed2002

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. Biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.

Basal Ganglia Diseases↗
PubMed2002

Congenital insensitivity to pain. Orthopaedic manifestations.

We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients); and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation). Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively.

Adolescent↗
PubMed2001

Improvement of atypical acute disseminated encephalomyelitis with steroids and intravenous immunoglobulins.

Acute disseminated encephalomyelitis is a demyelinating syndrome that occurs infrequently in children. Various treatment modalities, such as plasmapheresis or steroids or intravenous immunoglobulins (IVIG), have been prescribed. The article describes the results of combined IVIG and high-dose steroids given for 3 days in the treatment of a patient with atypical encephalomyelitis. The results suggest that this approach may be more beneficial than the application of either drug alone.

Anti-Inflammatory Agents↗
PubMed2000

Childhood epilepsy with occipital paroxysms: clinical variants in 134 patients.

PURPOSE: In its recent proposal, the Commission on Classification and Terminology of the International League Against Epilepsy classified childhood epilepsy with occipital paroxysms (CEOP) into two syndromes with different predominant seizure types: early onset (Panayiotopoulos type) with eye deviation and ictal vomiting and late onset (Gastaut type) with initial ictal visual symptoms. We documented the clinical features of a large group of patients with CEOP to confirm whether the classification is justified. METHODS: A file review of all patients with partial-onset seizure and interictal occipital spikes referred to our pediatric seizure unit between January 1975 and May 1997 yielded 134 who met the criteria for CEOP. Data were collected with a specially developed protocol and classified according to the two International League Against Epilepsy systems: (a) seizure classification, to test age-specific differences associated with the predominant seizure type, and (b) syndrome classification, to determine whether the clusters of signs and symptoms are sufficiently delineated. RESULTS: Three groups were defined according to the predominant ictal manifestations. Group 1 (visual) consisted of 24 patients (17.9%) with ictal visual symptoms; 19 (14%) of these patients also had overlapping adversive manifestations, either as a separate seizure or as part of the same event (median age at first and last seizure, 7 years 11 months and 10 years). Group 2 (adversive) consisted of 72 patients (53.7%) with tonic eye deviation (median age at first and last seizure, 5 years 2 months and 7 years 2 months). Group 3 (nonvisual, nonadversive) consisted of 38 patients (28.4%) with various seizure spread patterns (median age at first and last seizure, 6 and 7 years 2 months). Two syndromes were identified. The Gastaut type included all 24 patients in the visual group (group 1); seizures were brief and frequent and were diurnal in 83%. The Panayiotopoulos type included all 72 patients in group 2; ictal eye deviation occurred in 100% of the patients and ictal vomiting in 44%; prolonged seizures were observed in 35% and were more frequent in patients who had ictal vomiting than in those who did not (46.8% versus 25%, respectively; p < 0.027). Seizures were infrequent; 24% of patients had a single seizure and 58% had nocturnal seizures. Onset was earlier than for the Gastaut type (p < 0.002). The 38 patients with nonoccipital manifestations did not satisfy the criteria for the complete form of either syndrome. CONCLUSIONS: The most common type of CEOP, the Panayiotopoulos type, is characterized by a cluster of signs and symptoms sufficiently delineated to justify their separate classification from Gastaut-type CEOP, despite the absence of ictal vomiting in more than 50% of the patients.

Age of Onset↗
PubMed1999

Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.

Ataxia-telangiectasia (AT) is an autosomal recessive multisystem disorder presenting in childhood with progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiosensitivity, and cancer predisposition. The gene for AT, designated ATM (AT, mutated) encodes a protein with a carboxy-terminal phosphoinositide-3 kinase domain which is involved in cell cycle checkpoints and other responses to genotoxic stress. Most of the patients with the classical AT phenotype are homozygous or compound heterozygous for severe mutations causing truncation or destabilization of the ATM protein. Patients with a milder forms of disease, called AT variants, have been found to be either homozygous for milder mutations or compound heterozygotes for null alleles and mild mutations. In order to define the clinical phenotype of patients homozygous (or compound heterozygotes) for other, milder mutations, we decided to search for ATM mutations in patients with either sporadic or familial idiopathic ataxia. Thirty-four patients with idiopathic cerebellar ataxia, aged 3-77 years, were screened for mutations in the ATM coding region. There were 12 familial cases. None of the patients had abnormal immunoglobulin or alpha-fetoprotein levels, and none had mutations in the ATM coding region. In this heterogeneous group of patients with cerebellar ataxia we found no mutations in the ATM gene. We conclude that mutations in the ATM gene are probably not a common cause for cerebellar ataxia other than AT.

Adolescent↗
PubMed1999

Conversion reaction: management by the paediatrician.

UNLABELLED: We describe the diagnosis and management of 47 children with conversion reaction seen during the past 9 years in our outpatient department. Some illustrative cases are reported in detail. The study shows that conversion reactions in children can often be accurately diagnosed by detailed history and physical examination. When the diagnosis was made early and presented with certainty, both parental acceptance and the child's recovery were easier, and the need for expensive and unnecessary diagnostic procedures was eliminated. Immediate intervention by the paediatrician prevented perpetuation of the problem, secondary gains and continuing family stress. Most of the patients recovered after a few days without recurrence. The major role of the paediatrician is emphasized. Co-operation between the patients, parents and the paediatrician is important, as is close follow up. CONCLUSION: Paediatricians cope successfully with children with conversion reaction with early diagnosis and immediate intervention.

Adolescent↗
PubMed1999

The impact of managed care on physicians.

This article investigates physicians' perceptions of how managed care has affected them, using data from a 1995 survey of Arizona physicians. Respondents report that participation in managed care has had significant and largely unpleasant effects on numerous aspects of medical practice: physician-patient relationships, clinical decision making, work conditions and settings, and overall satisfaction.

Adult↗
PubMed1998

Reversible cortical atrophy and cognitive decline induced by valproic acid.

An 18-year-old male suffered from familial progressive myoclonic epilepsy from the age of 7 years. In addition to seizures, there was a marked decline in school performance. At the age of 14 years, sodium valproate was started as add-on therapy; 2 weeks later he was hospitalized in a stuporous state. The serum level of valproate was within the therapeutic range. Cognitive evaluation disclosed moderate mental retardation. No metabolic abnormalities were detected. Valproate was discontinued and during the 4 following months, a slow but significant improvement was documented in cognitive functions. Repeated assessment was within the range of mild mental retardation. Initially, magnetic resonance imaging (MRI) showed mild cortical atrophy. A subsequent MRI study performed 2 years later was normal.

Adolescent↗
PubMed1998

Neurofibromatosis type 1 in childhood: evaluation of clinical and epidemiologic features as predictive factors for severity.

The authors evaluated clinical and epidemiologic features of neurofibromatosis type 1 (NF-1) as predictive factors of severity of the disease. The data were retrieved from medical records of 110 children with NF-1 followed up during the period 1974-1991 (mean duration of follow-up 6.7 years). Presence of macrocephaly correlated with higher grade of severity of the disease (P = 0.018). Familial NF-1 was more common in patients with grade 4 disease than in children with grade 1 severity (P < 0.05; odds ratio 2.9, confidence limits 0.85-10.5). The specificity of positive family history and macrocephaly as predictive factors for the grade 4 disease was 90% and 89%, respectively, and sensitivity was 71% and 36%, correspondingly. Positive predictive value of familial NF-1 and macrocephaly was 24% and 31%, respectively. In conclusion, although patients with family history of NF-1 and with macrocephaly tend to have more severe disease, the clinical utility of these features as predictive factors for severity is limited.

Child↗
PubMed1998

Physician satisfaction in a changing health care environment: the impact of challenges to professional autonomy, authority, and dominance.

For some time, sociologists have debated whether physicians still retain dominance in the health care world, public faith in their moral and scientific authority, and the autonomy to set work conditions and make clinical decisions. Using ideas derived from this debate, we analyze the impact of changes in the health care environment on physician satisfaction. Our data come from a mailed survey of 510 Arizona physicians. Our results show that background physician attributes did not predict satisfaction, nor did most organizational attributes. However, participation in IPAs (Individual Practice Associations) predicted higher satisfaction, while payment according to a third party payer's fee-for-service schedule predicted lower satisfaction. In addition, physicians were more likely to be satisfied if they wrote the orders that non-physicians had to follow, were paid what they wanted, did not need to subordinate their clinical judgment to that of non-physicians, and believed that their patients had confidence in physicians. Our conclusions discuss both theoretical and policy implications of our findings.

Adult↗
PubMed1997

p53 mutation as the second event in juvenile chronic myelogenous leukemia in a patient with neurofibromatosis type 1.

BACKGROUND: Young patients with neurofibromatosis type 1 (NF1) are at increased risk of developing various malignancies, most of which are myeloid disorders. The observed loss of NF1 allele in the myeloid malignancies of NF1 patients suggests a role of NF1 as a tumor suppressor gene. Loss of 17p was found to be quite frequent in neural crest tumors from patients with NF1, raising the possibility of p53 tumor suppressor gene involvement in other NF1-related tumors. METHODS: The authors studied mutations in the NF1 and p53 genes, using loss of heterozygosity, single strand conformation polymorphism, heteroduplex and sequencing analyses. RESULTS: An NF1 germline mutation was identified in exon 31 of a child who developed juvenile chronic myelogenous leukemia (JCML). The mutation was segregated within the proband's family. A 14bp deletion at exon 6 of the p53 gene was observed when JCML was diagnosed, and the wild-type p53 allele was lost during progression of the disease. No loss of the normal NF1 allele could be detected. CONCLUSIONS: A germline mutation in the NF1 gene and sequential inactivation of p53 alleles in the malignant clone of JCML raise the possibility of a correlation between NF1 and p53 genes in the tumorigenesis of JCML.

Child, Preschool↗
PubMed1997

Agenesis of the corpus callosum in a mother and son.

Most reported familial cases of agenesis of the corpus callosum have followed either an autosomal recessive or an X-linked recessive pattern of inheritance. To the best of our knowledge, there is only one previous report of a family showing clear-cut autosomal dominant inheritance. We present the second such family, among whom a mother and her son had moderately severe coordination problems and low-normal intelligence. We suggest that agenesis of the corpus callosum, when transmitted as an autosomal dominant trait, is clinically characterized by a relatively milder phenotype than that occurring when inheritance is either autosomal or X-linked recessive and may be more common than has been thought.

Adult↗
PubMed1997

Lack of effect of methylphenidate on serum growth hormone (GH), GH-binding protein, and insulin-like growth factor I.

The aim of this study was to assess the growth hormone (GH) axis in methylphenidate (MPH)-treated and untreated boys with attention-deficit and hyperactivity disorder (ADHD), by evaluating serum GH, GH-binding protein (GHBP) activity, and insulin-like growth factor I (IGF-I) levels as compared to age-matched normal controls. Blood samples were taken from 42 boys (aged 6-16 years) diagnosed as having ADHD according to DSM-III-R criteria and confirmed by using the Schedule for Affective Disorder and Schizophrenia for school-age children (K[Kiddle]-SADS). A total of 21 patients were treated with MPH (5-20 mg/day; 0.15-0.77 mg/kg/day), on a drug holiday protocol, for 1-36 months, and 21 were drug naive. A total of 46 age-matched normal boys at height and weight within normal range served as controls. No significant differences were detected between the MPH-treated ADHD children, the untreated ADHD children, and the control children on fasting serum GH levels, GHBP activity, or IGF-I levels. Active treatment with MPH, in ADHD children on a drug holiday protocol, does not cause changes in GH axis as manifested by normal values of GH, GHBP, and IGF-I.

Adolescent↗
PubMed1997

Visual pathway glioma: an erratic tumour with therapeutic dilemmas.

OBJECTIVE: Our experience in children with visual pathway glioma (VPG) was reviewed to delineate its clinical characteristics. DESIGN: The charts and imaging studies of 21 children with VPG who were followed up in our centre during the last 12 years were reviewed and summarised. RESULTS: VPG accounted for 13.1% of all brain tumours treated during this period. Sixty two per cent of the children with VPG had neurofibromatosis type 1 (NF-1). Among these, more than 60% were detected as part of routine work up. In some cases decreasing visual function preceded the appearance of the VPG on imaging studies. Tumour growth rate was markedly unpredictable. All treatment modalities employed led to tumour shrinkage and stabilisation for a variable period, but none was successful in totally eradicating the tumour. Complications were less severe after chemotherapy compared with radiotherapy. Three children died, none with NF-1, with a globular hypothalamic/chiasmatic tumour and accompanying electrolyte abnormalities. CONCLUSIONS: NF-1 is a favourable prognostic marker for VPG. Whenever possible a period of observation is necessary before treatment is initiated, during which time tumour size and visual function should be closely followed up; an untoward change in either of these is an indication for the start of treatment, preferably chemotherapy first. The combination of a globular hypothalamic/chiasmatic glioma and electrolyte abnormalities in a child without NF-1 are related to a poor prognosis.

Antibiotics, Antineoplastic↗