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Biomedical subjects

N Brand

Publications and source records attributed to N Brand.

At least 37 records · Page 2Linked to original sources
PubMed1997

Immune globulins are effective in severe pediatric Guillain-Barré syndrome.

The effect of high-dose intravenous immune globulins was evaluated in an open prospective multicenter study of 26 children with severe Guillain-Barré syndrome. They presented with mild to moderate flaccid weakness of extremities, with cranial nerve involvement (20) and sensory impairment (22). All children rapidly deteriorated in 2-16 days (mean 6) to become bedridden, and 2 children also developed respiratory failure requiring artificial ventilation (Disability Grading Scale 4-5). Immune globulins were then administered at a total dose of 2 gm/kg, on 2 consecutive days, without adverse effects requiring discontinuation of therapy. Marked and rapid improvement was noted in 25 children, who improved by 1 to 2 Disability Grade Scales < or = 2 weeks after the infusion. Twenty were able to walk independently by 1 week, and 1 could be weaned off a ventilator. Eighteen children recovered by 2 weeks. The rest recuperated in a period of four months, including a child who was artificially ventilated for 4 weeks. The uniform rapid improvement and recovery associated with immune globulins contrasts with the slow recovery course in severe natural cases. We conclude that immune globulins are effective and safe in severe childhood-onset Guillain-Barré syndrome and therefore may serve as the initial treatment of choice.

Adolescent↗
PubMed1997

Induced mood and selective attention.

Subjects (N = 60) were randomly assigned to an elated, depressed, or neutral mood-induction condition to assess the effect of mood state on cognitive functioning. In the elated condition film fragments expressing happiness and euphoria were shown. In the depressed condition some frightening and distressing film fragments were presented. The neutral group watched no film. Mood states were measured using the Profile of Mood States, and a Stroop task assessed selective attention. Both were presented by computer. The induction groups differed significantly in the expected direction on the mood subscales Anger, Tension, Depression, Vigour, and Fatigue, and also in the mean scale response times, i.e., slower responses for the depressed condition and faster for the elated one. Differences between conditions were found in the errors on the Stroop: in the depressed condition were the fewest errors and significantly longer error reaction times. Speed of error was associated with self-reported fatigue.

Adult↗
PubMed1996

Tethered cord syndrome presenting as a nonhealing cutaneous ulcer.

The usual clinical presentations of tethered cord syndrome include pain in the lumbosacral region, gait difficulty, weakness, and bladder abnormalities. We describe an unusual presentation of tethered cord - a nonhealing gluteal ulcer in an anesthetic cutaneous territory supplied by the S2-4 segments. Unexplained cutaneous lesions may be the presenting sign of an underlying neurological condition.

Adolescent↗
PubMed1996

Epileptic blindness in children: a localizing sign of various epileptic disorders.

UNLABELLED: The ictal manifestations, EEG, CT, and MRI correlates, as well as the management and outcome of 11 children with epileptic blindness are presented. Seven males and four females, aged 3 months to 12 years, experienced single or recurrent episodes of acute visual obscuration. Ictal blindness was the solitary epileptic phenomenon in only two children. The rest had other focal or generalized motor epileptic manifestations. Six children had either focal motor phenomena and/or unilateral EEG disturbances, with a normal head CT. The drug of choice in this group was carbamazepine and all became asymptomatic. Two patients had structural abnormalities of the brain, of which one had a low-grade occipital astrocytoma which was resected. His blindness abated shortly following initiation of carbamazepine, even prior to surgery. Status epilepticus amauroticus and focal motor seizures, secondary to focal cortical dysplasia, was detected in another 3-month-old infant. These required cortical resection and she regained full vision. Three patients had generalized epileptiform discharges on EEG, of which two were photic-induced. Blindness was accompanied with motor seizures and myoclonic jerks. Full seizure control could be achieved in only one child. CONCLUSION: our data suggest a relatively benign nature and a favorable outcome in most children with ictal blindness. Resection of a secondary temporo-parietal focus, as occurred in an infant with status epilepticus amauroticus which originated in the occipital region, may result in complete cessation of seizures and visual recovery.

Blindness↗
PubMed1995

Leukemia translocation gene, PLZF, is expressed with a speckled nuclear pattern in early hematopoietic progenitors.

The PLZF gene was discovered by studying a rearrangement of the RAR alpha locus in a patient with acute promyelocytic leukemia and a t(11;17) chromosomal translocation. To understand further the potential role(s) of the PLZF gene product in hematopoiesis, we have examined its expression levels in a variety of murine tissues and in established cell lines that are representative of various stages of myeloid and lymphoid development. We show that murine PLZF(mPLZF) is expressed at the highest levels in undifferentiated, multipotential hematopoietic progenitor cells and that its expression declines as cells become more mature and committed to various hematopoietic lineages. Data obtained with established cell lines are corroborated by results showing the lack of human PLZF protein expression in mature peripheral blood mononuclear cells and high PLZF levels in the nuclei of CD34+ human bone marrow progenitor cells. Interestingly, unlike many transcription factors, PLZF protein in these cells possesses distinct punctate nuclear distribution, suggesting its compartmentalization in the nucleus. Taken together, our data suggest a role for PLZF protein in early hematopoiesis and the requirement of downregulation of its expression for proper differentiation of most hematopoietic lineages.

Amino Acid Sequence↗
PubMed1995

Expression of the zinc-finger gene PLZF at rhombomere boundaries in the vertebrate hindbrain.

To investigate the potential biological role(s) of the PLZF gene, discovered as a fusion with the RARA locus in a patient with acute promyelocytic leukemia harboring a t(11;17) chromosomal translocation, we have isolated its murine homologue (mPLZF) and studied its patterns of developmental expression. The levels of mPLZF mRNAs increased perinatally in the liver, heart, and kidney, but with the exception of the heart, they were either absent or very low in the adult tissues. In situ analysis of mPLZF expression in mouse embryos between 7.0 and 10.5 days of development revealed that mPLZF mRNAs and proteins were coexpressed in spatially restricted and temporally dynamic patterns in the central nervous system. In the hindbrain region, a segmental pattern of expression correlated with the development of the rhombomeres. From 9.0 days of development, starting first in rhombomeres 3 and 5, there was an ordered down-regulation of expression in the center of each rhombomere, so that 1 day later elevated levels of mPLZF mRNAs and proteins were restricted to cells surrounding the rhombomeric boundaries. The chicken homologue of the PLZF gene, which we have also cloned, demonstrated a similar segmental pattern of expression in the hindbrain. To date, PLZF represents the only example of a transcription factor with elevated expression at rhombomeric boundaries. The high degree of evolutionary conservation between the patterns of PLZF expression during mammalian and avian central nervous system development suggests that it has an important functional role in the regionalization of the vertebrate hindbrain, potentially regulating boundary cell interactions.

Amino Acid Sequence↗
PubMed1994

Predictors of outcome of stroke in infants and children based on clinical data and radiologic correlates.

Outcome predictors were analyzed in 45 infants and children with cerebrovascular disorders (CVD), based on clinical features and radiological correlates. The clinical features at presentation could be categorized into three major groups: (1) generalized: alteration of consciousness with or without seizures--24 patients (54%); (2) focal: acute hemiplegia or monoplegia with or without focal seizures--18 patients (40%); (3) cerebellar disturbances--3 patients (6%). The underlying etiology was detected in 80% of children. Thirty-seven patients (82%) survived the initial debilitating event, of whom 11 (29.7%) recovered completely and the rest had either motor or cognitive handicaps during an average follow-up period of 4.2 years (range 1.5-11 years). A head CT performed in all children revealed ischemic infarction in 29 patients (64.4%), while the others had hemorrhagic infarction. Of those with an initial generalized neurological presentation, as many as 50% had multi-focal lesions on CT. All children with focal neurological findings had a solitary localized lesion on CT, mainly in the distribution of the middle cerebral artery. Statistical analysis for outcome prediction showed that the following variables were associated with increased risk of immediate death: (1) hemorrhagic infarction demonstrated by brain CT (p = 0.031); (2) patients who presented with a generalized neurological disorder, namely alteration of consciousness, with or without seizures (p = 0.036). No other clinical or laboratory variables were predictive of imminent death, motor or cognitive handicaps. These may therefore serve as outcome predictors of stroke in the pediatric age group.

Cerebellar Diseases↗
PubMed1994

Origins of hyperphenylalaninemia in Israel.

Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disease phenylketonuria to various degrees of nonclinical HPA. Seventy-two Jewish and 36 Palestinian Arab families with various HPAs, containing 115 affected genotypes, were studied by haplotype analysis, screening for previously known PAH lesions and a search for novel mutations. Forty-one PAH haplotypes were observed in this sample. Four mutations previously identified in Europe (IVS10nt546, R261Q, R408W and R158Q) were found, and were associated with the same haplotypes as in Europe, indicating possible gene flow from European populations into the Jewish and Palestinian gene pools. Of particular interest is a PAH allele with the IVS10nt546 mutation and haplotype 6, that might have originated in Italy more than 3,000 years ago and spread during the expansion of the Roman Empire. These results, together with previous identification of three PAH mutations unique to Palestinian Arabs [IVSnt2, Edel(197-205) and R270S], indicate that the relatively high genetic diversity of the Jewish and Palestinian populations reflects, in addition to genetic events unique to these communities, some gene flow from neighboring and conquering populations.

Amino Acid Metabolism, Inborn Errors↗
PubMed1994

Surgical morbidity in the North Coast Health Region.

A comparison of morbidity following 20 selected surgical procedures was conducted in the North Coast Health Region of NSW in 1988. Morbidity rates between procedures, hospitals and hospital levels were compared and the effects of age, gender and the American Society of Anesthesiologists rating on morbidity were examined. The respective perceptions of doctors and patients regarding complications were also compared. The study gives conditional support to the continuation of a surgical programme in Level 3 hospitals in the North Coast Health Region.

Age Factors↗
PubMed1993

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

Hereditary motor-sensory neuropathy with sensorineural deafness is described in a family; the neurologic features and deafness were apparent in early childhood and infancy. The clinical syndrome in the family was not closely linked to the Duffy blood group, nor was duplication demonstrated at the disease-associated locus 17 p11.2. This family may represent a different form of this heterogeneous disease.

Adolescent↗
PubMed1993

Delayed parkinsonism associated with hypotension in a child undergoing open-heart surgery.

An eight-year-old boy developed acute parkinsonism four days after open-heart surgery for repair of a ventriculo-septal defect. During the procedure he experienced a hypotensive episode which required administration of positive-inotropic agents. Complementing the clinical signs of parkinsonism, CT scan showed symmetrical hypodensities in the basal ganglia, and decreased regional cerebral blood flow was demonstrated using 99mTc HMPAO SPECT. These findings were suggestive of a hypoxic-ischaemic insult to the basal ganglia. The child was treated with levodopa/carbidopa and subsequently completely recovered within a follow-up period of eight months. CT scan appearances and cerebral blood flow findings returned to normal. Parkinsonism secondary to a hypoxic-ischaemic insult to basal ganglia in children is a rare but reversible disorder, in contrast to its progressive course which results in severe disability in adults.

Acute Disease↗
PubMed1993

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Phenylketonuria (PKU) and benign hyperphenylalaninaemia (HPA) result from a variety of mutations in the gene for the hepatic enzyme phenylalanine hydroxylase. PKU has been found in the Israeli population in two variants, classical and atypical. The two are clinically indistinguishable and require treatment with low phenylalanine diet to prevent mental retardation, but show differences in serum phenylalanine levels and in tolerance to this amino acid. Maternal PKU is a syndrome of congenital anomalies and mental retardation that appears in offspring of PKU mothers as a result of fetal exposure to the high phenylalanine level in the maternal blood. We studied a family in which two children with severe, classical PKU and their unaffected brother showed mild signs of maternal PKU. Their mother had no clinical signs of PKU, but the phenylalanine concentration in her serum reached a level that usually characterises PKU patients. This woman represents a rare phenotype, benign atypical PKU. Such 'hidden' PKU in women may lead to maternal PKU in the offspring, similar to overt PKU. Special attention should therefore be paid to women having children with any of the clinical hallmarks of maternal PKU, and to children born to women known to have benign HPA. The mother was also found to be homozygous for a missense mutation at the phenylalanine hydroxylase locus, R261Q, which does not abolish enzymatic activity completely. In two other families, homozygosity for this mutation resulted in atypical PKU in four children. This observation suggests that mutations that do not completely destroy phenylalanine hydroxylase activity may exhibit variable phenotypic expression which is unpredictable. Compound heterozygosity for R261Q and other mutations led in other patients either to classical PKU or to mild benign HPA.

Adult↗
PubMed1992

Procedural learning of cognitive and motor skills in psychotic patients.

Two kinds of procedural learning, viz. learning of a sequence of simple motor responses and learning to solve a rather complex problem (Tower of Hanoi), as well as declarative learning (word list learning) were investigated in a group of psychotic inpatients (n = 67) and a control group of non-psychotic psychiatric inpatients (n = 19). Within the psychotic group, correlations of the task variables with positive and negative symptoms were explored. There was no difference between both groups in motor procedural learning. Psychotic patients were less efficient than controls in solving the Tower problem, but both groups again showed an equal amount of procedural learning. Consistent with the literature, however, a clear difference between both groups was found in declarative learning. The memory tasks did not correlate significantly with psychotic symptoms. These findings are interpreted as another indication that automatic information processing in psychotic patients is intact. The results are discussed with reference to neuropsychological research on procedural learning in neurological patients.

Adult↗
PubMed1992

Effect of add-on amantadine therapy for refractory absence epilepsy.

Amantadine hydrochloride was administered as an add-on drug to four children with refractory absence epilepsy, resulting in complete resolution of absence episodes within 1 week. All patients remained free of symptoms for 27 to 36 months without adverse effects related to this drug. An attempt to discontinue the use of this medication in three children resulted in a prompt relapse. The suggestion that amantadine may be an effective drug in the treatment of refractory absence epilepsy, should be tested in a double-blind, controlled study.

Amantadine↗
PubMed1992

Transverse myelitis following mumps in children.

Although acute transverse myelitis is a rare complication of mumps, it is relatively well documented. We describe a child who developed mumps associated acute transverse myelitis and who subsequently recovered completely. To our knowledge, only 13 cases have been reported in children. This case is compared with 13 previously reported patients.

Acute Disease↗
PubMed1992

Self-inflicted ocular mutilation in the pediatric age group.

Three mentally retarded children with severe self-inflicted ocular injuries are presented. All three suffered from severe ocular injuries including retinal detachment resulting in progressive visual loss and even blindness. Self-inflicted injuries to the eyes, including self enucleation, is an extremely uncommon form of behavior, rarely encountered by pediatricians. The risk of ocular morbidity is high if the diagnosis is overlooked. Technical advances in ophthalmology permit much improvement in some formerly hopeless cases of ocular self-mutilation, but there is still no accurate method to repair destroyed retinal or nervous tissue. Early identification of patients at risk of ocular self-mutilation is essential in order to prevent or minimize such severe ocular injuries.

Child↗