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Biomedical subjects

A Galil

Publications and source records attributed to A Galil.

At least 19 recordsLinked to original sources

Compliance with home rehabilitation therapy by parents of children with disabilities in Jews and Bedouin in Israel.

Among key points in making progress and succeeding with a therapeutic programme for children with disabilities is parental compliance with the regime for their child. The purpose of this study was to evaluate factors influencing compliance with home therapy in the Jewish and Bedouin populations. Data were collected by structured questionnaires. A total of 193 families participated (84% response rate) with children who ranged in age from 6 months to 6 years (mean age at first visit to the centre was 9.5 years in Jews and 16.1 years in Bedouin). Compliance was significantly lower among the Bedouin. Multivariate regression analysis showed that the strongest contributory factor in lack of compliance was being Bedouin. The second factor was intensity of questioning destiny, indicating that parents with these feelings may be less likely to comply with therapeutic regimes. Other factors which were associated with compliance were parents' education and socioeconomic status: lower levels on these dimensions corresponded with lower parental compliance. These results were illuminated by a trial intervention programme for Bedouin families which involved telephone contact, translation facilities, and detailed explanations during visits to the centre. Intervention increased the compliance rate of the Bedouin appointments with specialists to 76% (91 of 120 appointments) thereby reaching similar levels to those of the Jewish group. These preliminary results indicate that the strong association between non-compliance and being Bedouin may be due to factors of communication, and that the Bedouin are receptive to therapeutic interventions when communicated in their own language.

Arabs↗

A four year survey of neonatal narcotic withdrawal: evaluation and treatment.

BACKGROUND: Narcotic abuse has steadily become more prevalent in Israel and may result in an increasing number of children exposed prenatally to narcotics, with a consequent increase in the number of infants born with neonatal abstinence syndrome. OBJECTIVE: To report our experience with infants born to narcotic-addicted women between the years 1995 and 1998 at the Soroka University Medical Center. METHODS: The medical records of 24 newborns and their drug-addicted mothers admitted to our Medical Center for parturition were analyzed retrospectively. A diagnosis of NAS was established on the basis of the clinical presentation and anamnesis. The Finnegan Neonatal Abstinence Scoring System was used to assess drug withdrawal. Urine toxicological analysis for narcotics was done only for the year 1998. RESULTS: Of the 24 newborn infants exposed prenatally to narcotics 23 (96%) developed NAS, and 78% (18 of the 23) had a Finnegan score of 8 or more. These 18 infants were treated pharmacologically (tincture of opium and/or phenobarbital) until the score was reduced to less than 8, after which they received supportive treatment. In one child who became lethargic after the first dose of tincture of opium, the medication was stopped and supportive treatment alone was given. Four of the five neonates with scores of 7 and less were given supportive treatment. One of five infants who had a low Finnegan score at birth nevertheless received pharmacological therapy to prevent further deterioration of his physical state since he was born with severe dyspnea. Ten of the 24 children (42%) were followed for lengths of time ranging from 6 to 22 months after discharge, all of whom showed normal development. CONCLUSIONS: About three-quarters of newborns exhibiting withdrawal syndrome required pharmacological therapy. Previous information on maternal drug abuse is a crucial criterion for early detection and treatment.

Adult↗

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb apart) at Xq28, about 500 kb telomeric to the FMR1 gene. The total length of the deletion is approximately 8.5 Mb. The propositus's mother, who was found to be a carrier of the deletion, showed very mild mental impairment. Except for mental retardation, which is a common finding in all cases reported with similar deletions of chromosome Xq, this patient had generalized overgrowth, exceeding the 97th centile for height and weight. Obesity and increased growth parameters have been reported in other patients with deletions either overlapping or within a distance of 0.5 Mb from the deletion in the present patient. Thus, it is suggested that a deletion of the 8-Mb fragment centromeric to the FMR1 gene might have an effect on growth.

Child, Preschool↗

Seroprevalence of IgG antibodies to the chlamydia-like microorganism 'Simkania Z' by ELISA.

The newly described microorganism 'Simkania Z', related to the Chlamydiae, has been shown to be associated with bronchiolitis in infants and community acquired pneumonia in adults. The prevalence of infection in the general population is unknown. A simple ELISA assay for the detection of serum IgG antibodies to 'Simkania Z' was used to determine the prevalence of such antibodies in several population samples in southern Israel (the Negev). The groups tested included 94 medical and nursing students, 100 unselected blood donors, 106 adult members of a Negev kibbutz (communal agricultural settlement), and 45 adult Bedouin, residents of the Negev. IgG antibodies to 'Simkania Z' were found in 55-80% of these presumably healthy individuals, independently of antibodies to Chlamydia trachomatis and Chlamydia pneumoniae. The Bedouin had a seropositivity rate of 80%, while all other groups had rates of between 55 and 64%. These results indicate that 'Simkania Z' infection is probably common in southern Israel.

Adolescent↗

Clinical presentation and outcome in primary familial hypomagnesaemia.

The clinical presentation and long term outcome (mean follow up eight years, range 0.25 to 21) of 15 patients with autosomal recessive primary familial hypomagnesaemia is described. The most common (67%) presenting events were generalised hypocalcaemic-hypomagnesaemic seizures at a mean (SD) age of 4.9 (2.5) weeks. Thirteen infants, treated soon after diagnosis with high dose enteral magnesium developed normally. Their serum calcium returned to normal concentrations but serum magnesium could not be maintained at normal concentrations (0.53 (0.12 SD) mmol/l; normal > 0.62). Delay in establishing a diagnosis led to a convulsive disorder with permanent neurological impairment in two infants. Reported complications of prolonged hypomagnesaemia such as renal stones, hypertension, arrhythmias, sudden death, or dyslipidaemia were not observed.

Consanguinity↗

[Rett syndrome].

Rett syndrome was described relatively recently. It affects only females and is characterized by progressive deterioration of neurological status and impairment of psychomotor development. Psychomotor development is normal in the first year of life, but then there is deterioration of fine motor and language skills and later still, of gross motor skills. This results in severe motor function handicap and dementia. The arrested head growth, severe psychomotor retardation and typical "washing hands" movements are typical of Rett syndrome. We describe a 3-year-old Bedouin girl with the clinical picture of the syndrome and review the world literature, stressing the difficulty in detection and diagnosis.

Child, Preschool↗

Effect of distal hamstring release on cerebral palsy patients.

Thirty patients had distal hamstring release with modified Green technique: 21 spastic diplegics, 8 spastic quadriplegics, and 1 spastic hemiplegic. The average age at the time of surgery was 6.9 years. The average follow-up was 2.5 years. Average improvement of 40 degrees in the popliteal angle was noted at follow-up. Twenty-three patients improved their gait pattern. Nine patients improved one level of walking ability. A popliteal angle over 50 degrees was defined as recurrent. On the basis of this criterion, the recurrence rate was 12.5% (7/56 knees). In all recurrent cases, however, the tightness was less severe than preoperatively. Noncompliance on the part of parents was the chief reason for recurrence. Distal hamstring release is an effective procedure in treatment of cerebral palsy patients with flexion deformity.

Adolescent↗

[Infantile neuroaxonal dystrophy].

Infantile neuroaxonal dystrophy is a degenerative disease, mostly of nerve endings in the central and peripheral nervous system, with typical pathological findings. We describe a 3-year-old boy who had suffered from nystagmus, progressive muscle weakness and dementia since the age of 10 months. Biochemical work-up, MRI of the brain, and electrophysiological studies were within normal limits. Only skin biopsy, and sural nerve biopsy at a later stage, were diagnostic. We stress the importance of performing tissue biopsy even when intensive investigation is negative.

Biopsy↗

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.

The Weissenbacher-Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.

Bone Diseases, Developmental↗

Variation in serum levels of the soluble TNF receptors among healthy individuals.

Soluble forms of the two receptors for tumor necrosis factor (TNF) are present in human sera at concentrations that increase greatly in various disease states as well as varying among healthy individuals. Measurements of the soluble TNF receptor (sTNF-R) concentrations in healthy individuals at time lapses of 3 months (17 individuals) or 1 year (51 individuals) showed a significant correlation between the first and the second measurements from each individual, implying that individual differences are stable. Since the sTNF-Rs are believed to function as physiological attenuators of TNF activity, these steady individual differences may contribute to differences in the severity of the harmful effects of TNF in disease states.

Enzyme-Linked Immunosorbent Assay↗

Comparison of structural polypeptides, detected by immunoblotting technique, in the sera of spotted fever group rickettsia positive cases--symptomatic versus asymptomatic.

In an attempt to characterize the nature of symptomatic versus asymptomatic spotted fever group rickettsia (SFGR) infection, the immune response to R. conorii (boutonneuse fever) structural polypeptides was studied by Western-blot immunoassay. Sera from immunoperoxidase assay (IPA), SFGR seropositive (titre greater than or equal to 80) individuals, symptomatic and asymptomatic and from SFGR seronegative (IPA titre less than 80) individuals living in a kibbutz community in the desert region of Southern Israel were examined by immunoblot. This community suffered from a very high morbidity rate due to SFGR (21-fold higher than the national reported average). The entire community (n-326) has been followed-up since 1985, with serial serum samples being examined for specific IgG antibodies by IPA. The intensity of the immunoblot reaction correlated with specific IgG antibody titres as determined by IPA. This correlation was also observed between the decrease in the IgG titre and the strength of the antibody-antigen reaction by immunoblot over time for a given individual. IPA seropositive sera from asymptomatic as well as symptomatic spotted fever cases reacted to 8 individual polypeptides. In both cases antibodies to 22 kD, 24 kD, 26 kD, 28 kD, 30 kD, 32 kD, 34 kD, and 37 kD were found. In the IPA seronegative sera, antibodies to polypeptides in the range of 24 kD to 32 kD were not detected. The lack of detectable differences by immunoblotting between SFGR symptomatic vs, asymptomatic cases might be explained by other aspects of the immune response of each infected individual, and/or it is possible that virulent and non-virulent antigenically closely related SFGR strains infected symptomatic vs. asymptomatic individuals.

Bacterial Proteins↗

Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development.

A child with the distinguishing characteristics of Weissenbacher-Zweymuller syndrome (WZS), a rare syndrome characterized by multiple skeletal and radiological abnormalities, dwarfism and developmental delays, was followed from birth to eight years. Follow-up showed that the radiographic anomalies eventually disappeared, and that height, motor, cognitive and language development returned to normal by eight years of age. The child's normal development at school age supports the theory that WZS is a dysmaturational, rather than dysplastic, syndrome. Diagnosis of the syndrome at birth is essential to ensure proper management of the child and counselling for the parents.

Abnormalities, Multiple↗

[Malabsorption and developmental retardation due to secondary trypsin deficiency].

A 1.5-year-old girl was admitted with chronic diarrhea of 10 months duration and retarded physical and psychomotor development. Duodenal tryptic activity was absent on testing with secretin and cholecystokinin. With pancreatic enzyme replacement diarrhea ceased and growth recommenced. Duodenal tryptic activity returned to normal within 6 months. A 10-year follow-up revealed normal physical and mental growth. Secondary deficiency of trypsin is a rare cause of malabsorption in childhood; correct and timely treatment can avoid severe, irreversible developmental defects.

Developmental Disabilities↗