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W Blom

Publications and source records attributed to W Blom.

At least 19 recordsLinked to original sources
PubMed2004

Capacity development through reflective practice and collaborative research among clinic supervisors in rural South Africa--a case study.

UNLABELLED: This article provides an example of one form of action research, collaborative enquiry, in the health sector. It argues that collaborative inquiry is a powerful tool to develop reflective capacity among health workers and can facilitate the ownership of learning and the production of usable knowledge. It reports the results of a research project investigating the roles and functions of clinic supervisors in three districts in the Eastern Cape Province, South Africa. BACKGROUND: Clinics are the cornerstone of the new district-based health system. They are staffed primarily by nurses and are often the only contact point for large parts of the rural population. In conditions of remoteness and isolation, clinic staff depend upon personal interaction with clinic supervisors to enable them to function productively. Yet experience has shown that supervisors do not always fulfil this role. This project aimed at gaining insight into the status of clinic supervision, understanding the factors that hinder effective supervision and making recommendations for improvements. METHODOLOGY: Using a participative approach of Collaborative Inquiry, a team of 10 clinic supervisors and the research co-ordinator collected data reflecting on their own practice over a period of 5 months. These data were then jointly analysed and written up. CONCLUSIONS: The participating clinic supervisors went through several periods of uncertainty, when many of them asked themselves why they agreed to this project. However, the engagement with stakeholders and colleagues and the joint analysis of research data soon proved to be a valuable source of insight. There was unanimity in the end that the research process had been very valuable and enabling.

Ambulatory Care Facilities↗
PubMed1990

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.

Adolescent↗
PubMed1990

Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia.

In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed bilateral symmetrical necrosis of the globus pallidus. Different episodes of metabolic decompensation, one with severe acidosis, had occurred. Persistent neurological symptoms in patients with MMAA who are appropriately treated suggest irreversible brain damage which appears to occur preferentially at the level of the basal ganglia.

Acidosis↗
PubMed1989

[Children with autism and related contact disorders: medical aspects].

In children with infantile autism or atypical pervasive developmental disorders somatic aspects play an important role. A review is presented of important hereditary, pre-, peri- and neonatal factors, findings at neurological examination, specific medical disorders and neurochemical and neurophysiological findings. Results of the medical examination of 15 children with autistic or atypical developmental disorders are presented. It is concluded that extensive medical examination of these children is indicated: in 8 out of 15 children a clinically relevant chromosomal, neurological or biochemical disorder could be detected.

Autistic Disorder↗
PubMed1989

A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

The necessity for a multi-disciplinary approach to the study of genetic disease is discussed. The progress of laboratory investigation programmes made it not feasible and inefficient to run a full metabolic investigation programme in every new patient suspected of inherited metabolic disease. An application form for metabolic investigation is described, which can be used to collect clinical information relevant to metabolic disease. On the basis of the patient's clinical information, selection criteria are given to decide which laboratory investigation programme has to be performed in the individual patient. A full metabolic laboratory investigation programme is described and illustrated with some examples of abnormal metabolite patterns. Diagnostic results over a 2-year period are presented.

Chromatography↗
PubMed1988

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.

A new lysosomal storage disease with autosomal recessive inheritance is described in two male siblings of 5 1/2 and 4 years of age. Clinical manifestations started after 9 months of age with neurological symptoms, followed by progressive psychomotor deterioration. Urinary oligosaccharide excretion was abnormal and showed a characteristic pattern on chromatography. Enzyme assays showed a profound deficiency of lysosomal alpha-N-acetylgalactosaminidase in cultured fibroblasts, leukocytes and plasma from the patients and reduced activity in material from the parents. The deficiency was demonstrated both with an artificial substrate and a natural one, the blood group A trisaccharide. Excessive intra-lysosomal storage of alpha-N-acetylgalactosamine-containing material was demonstrated in cultured fibroblasts from the patients, using the lectin from Helix pomatia which is specific for terminal alpha-N-acetylgalactosamine residues.

Acetylgalactosamine↗
PubMed1985

Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II. Clinical aspects.

An autosomal-dominant progressive sensorineural hearing loss in six generations of a large family with 105 affected members was studied. The pattern of inheritance is autosomal dominant with an almost complete penetrance. The age of onset is between 5 and 15 years. Individuals with a normal audiogram at the age of 15 and over will not develop the disorder. Different generations show an identical pattern of progression. Because the age of onset is the same, anticipation is excluded. The hearing loss is symmetrical. Over 40 years, low-frequency losses are greater in females than in males. Epistasis possibly plays a role since affected individuals in branch II of this family have a more severe expression than those in the other two affected branches. No abnormal excretion of organic acids in the urine could be established.

Adolescent↗
PubMed1984

Prenatal diagnosis of Sanfilippo disease type B.

The prenatal diagnosis of a fetus affected with Sanfilippo disease type B is described. The deficiency of alpha-N-acetylglucosaminidase in the cultured amniotic fluid cells was shown by a microassay enabling early prenatal diagnosis. In addition an increased level of heparan sulphate was demonstrated in the amniotic fluid by two-dimensional electrophoresis of glycosaminoglycans. The latter result confirmed the value of this test as an adjunctive method in the prenatal diagnosis. The pregnancy was terminated and the prenatal diagnosis was confirmed by enzyme analysis of cultured fetal fibroblasts and fetal liver.

Acetylglucosaminidase↗
PubMed1984

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin.

A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given. Treatment with riboflavine resulted in an improvement of the metabolite profile, and the patient gained weight. However, a tendency to hypoglycaemia and severe hypotonia persisted. Due to muscle weakness, aggravated by infections, artificial ventilation was necessary during three periods. Serum carnitine level was low. Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support. Treatment with insulin, combined with further enrichment of the diet with glucose, resulted in an increase in muscular strength and in weight gain. Thirteen families with GA II have been described upto now. This is the first patient with a severe form of the disorder wo has survived the 1st year of life. Treatment and metabolic studies are presented.

Biopsy↗
PubMed1983

Morquio B syndrome: a primary defect in beta-galactosidase.

Fibroblasts from patients with Morquio B syndrome contain normal numbers of beta-galactosidase molecules with normal turnover but strongly reduced activity per enzyme molecule. Various substrate affinities are abnormal: the Km for methylum belliferyl (MU)-beta-galactoside is 4-10-fold elevated and affinity for keratan sulphate and oligosaccharides, isolated from Morquio B urine, was not detectable. In contrast, these substrate affinities are normal for beta-galactosidase in adult type GM1-gangliosidosis fibroblasts. Cell hybridization studies demonstrate that Morquio B syndrome and infantile and adult type GM1-gangliosidosis belong to the same complementation group. From these results we conclude that Morquio B syndrome is caused by a mutation in the structural gene for beta-galactosidase, which is allelic to the mutations in infantile and adult type GM1-gangliosidosis. Urinary excretion of keratan sulphate and oligosaccharides is abnormal in Morquio B syndrome but normal in adult type GM1-gangliosidosis. The catalytic properties of beta-galactosidase in Morquio B syndrome and GM1-gangliosidosis provide a possible explanation for the distinct clinical manifestations in these disorders.

Fibroblasts↗
PubMed1983

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.

Two sisters and one brother, all with normal intelligence and no evidence of neurological abnormality, present progressive spondyloepiphyseal dysplasia, stunted growth, corneal opacities, and increased keratansulfaturia. Cultured skin fibroblasts from one of the children showed a remarkable deficiency of acid beta-galactosidase in association with normal activities of N-acetylgalactosamine-6-sulfate sulfatase and sialidase. Acid beta-galactosidase was also deficient in leukocytes of two children. Leukocytes of the parents exhibited intermediate activities, which suggests the primary nature of beta-galactosidase deficiency. Patients with MPS IV-B may be severely affected.

Adolescent↗
PubMed1983

Heterozygous cystinuria and calcium oxalate urolithiasis.

To evaluate the incidence of heterozygous cystinuria in patients with primary and recurrent calcium oxalate stone disease 24-hour urine samples from 140 patients were examined. The frequency of heterozygous cystinuria in this study was only 1.4 per cent (2 patients). The frequency of other metabolic disorders was in accordance with other reports: hypercalciuria (32 per cent), hyperuricosuria (32 per cent) and hyperoxaluria (17 per cent).

Adult↗