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Biomedical subjects

J H Walter

Publications and source records attributed to J H Walter.

At least 37 records · Page 2Linked to original sources
PubMed1999

Generalised uridine diphosphate galactose-4-epimerase deficiency.

The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development.

Adolescent↗
PubMed1998

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.

Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3) giving betaine in order to utilise alternative pathways to remove homocyst(e)ine. In our experience of over 30 years in the diagnosis and management of patients with CBS deficiency, a normal outcome can only be achieved in patients diagnosed and treated from infancy. Pyridoxine combined with folic acid prevents further deterioration in pyridoxine responsive patients. Dietary treatment of patients with non-pyridoxine responsive CBS deficiency becomes more difficult outside childhood but since late complications are not uncommon must be continued for life. Betaine can be effective in this group but compliance is often poor.

Adolescent↗
PubMed1998

Randomised controlled trial of L-carnitine as a nutritional supplement in preterm infants.

AIMS: To evaluate the effect of L-carnitine supplementation (25 mg/kg/d) on the growth and incidence of hypoglycaemia in preterm infants. METHODS: A double blind, placebo controlled randomised trial, stratified for gestational age, was conducted of 86 preterm infants between 28 and 34 gestational weeks. The median gestational ages in the carnitine group and placebo groups were 30.7 weeks (range 28.0 to 33.6) and 31.4 weeks (range 28.0 to 33.9), respectively. The median birthweights were 1.557 kg (range 0.944 to 2.275) and 1.645 kg (range 0.885 to 2.545), respectively. RESULTS: Mean plasma free carnitine concentrations were below values for normal term infants in both groups on day 1 (carnitine group 44.8 mumol/l, placebo group 25.5 mumol/l) in the placebo group on day 7 (50.7 mumol/l), but in neither group on days 14 and 28. Total, free, and acylcarnitine concentrations were significantly increased in both urine and blood in the L-carnitine group. There was no significant difference between the placebo and carnitine supplemented groups in growth rate, as assessed by weight, length, skinfold thickness and head circumference measurements, or in the incidence of episodes of hypoglycaemia. CONCLUSION: The addition of carnitine as a nutritional supplement at a dose of 25 mg/kg/day did not improve growth in our group of preterm infants nor protect them from episodes of hypoglycaemia.

Carnitine↗
PubMed1997

Epithelial neoplasms of the skin, the cutaneous mucosa and the transitional epithelium in dogs: an immunolocalization study for papillomavirus antigen.

In order to study the prevalence of papillomavirus antigen in canine epithelial neoplasms, 535 neoplastic and hyperplastic specimens of the skin, the cutaneous mucosa and the transitional epithelium were immunohistochemically stained with a polyclonal antiserum against papillomavirus antigen. A positive staining result occurred in 44.2% in a total of 95 papillomas and in 27% of 100 diagnosed squamous cell carcinomas, other tumours did not react with the applied antiserum. Papillomavirus antigen was detectable in 54.2% of all oral and ocular papillomas and in 37.0% of all cutaneous papillomas. The majority of the squamous cell carcinomas with detectable papillomavirus antigen were considered positive but not without restrictions. The average age of dogs with viral oral and ocular papillomas was 2.3 years, with viral cutaneous papillomas it was 3.2 years. The average age of dogs with virus-positive squamous cell carcinomas was nearly 11 years. Papillomavirus-like particles were demonstrated by means of transmission electron microscopy in three positive oral papillomas, in the positive squamous cell carcinomas virion detection failed.

Animals↗
PubMed1997

Prolidase deficiency and systemic lupus erythematosus.

Two children with prolidase deficiency, an inborn error of proline metabolism, developed clinical and immunological abnormalities consistent with a diagnosis of systemic lupus erythematosus (SLE). The first child died from septicaemia, and SLE was only diagnosed during his terminal illness. As a result of this diagnosis his cousin, who was already known to have prolidase deficiency, was investigated further and a diagnosis of SLE confirmed. Following treatment with oral prednisolone her clinical condition has improved, although she has a persistently raised erythrocyte sedimentation rate (ESR) and florid facial rash. Both prolidase deficiency and SLE are associated with disturbances in immune function and have clinical features in common. It is likely that prolidase deficiency is a risk factor for the development of SLE. Additionally, patients with SLE should-where there is a family history or presentation in childhood-be specifically investigated for prolidase deficiency, since standard immunological or haematological investigations will not identify the characteristic biochemical abnormalities.

Amino Acid Metabolism, Inborn Errors↗
PubMed1997

Pediatric aneurysmal bone cyst of the distal tibia.

A rare, large pediatric aneurysmal bone cyst with pathologic fracture of the distal tibia of a 4-year-old female was presented. Classic radiographic and magnetic resonance imaging findings have been discussed. In a comprehensive review of the literature, aneurysmal bone cysts are an infrequently reported neoplasm of the foot and ankle bones. Lesions are characteristically seen in patients younger than 20 years of age, but rarely younger than 5 years. The benign cyst has a 2:1 female-to male predilection. In long bones, the lesion is typically metaphyseal in nature. Although the pathogenesis is still unknown, there exists the possibility of two types of aneurysmal bone cysts: a primary type without preexisting lesion and a secondary form associated with some other lesion. The diagnosis of aneurysmal bone cyst can be strongly suspected by correlating the radiographic and magnetic resonance imaging findings. For definitive diagnosis, accurate histologic evaluation is imperative to rule out any confusion or possibility with a malignant tumor.

Bone Cysts, Aneurysmal↗
PubMed1996

Systemic, metastatic, eu- and heterotope tumours of the heart in necropsied dogs.

10,090 dissections of dogs exhibited 2631 neoplastic processes of which 309 involved the heart in the form of eu- and heteropic tumours. The most common primary and/or secondary heart tumour type was hemangiosarcoma (n = 187), followed by paraganglioma (n = 46), carcinoma (n = 33), malignant lymphoma (n = 12), thyroid heart base tumour (n = 9), melanoma (n = 7), mast cell tumour (n = 3) and blastoma (n = 2). The tumour diagnoses were immunohistochemically proved by various antibodies to cytokeratins, vimentin, GFAP, NSE, von Willebrand factor, CD3, CD45RA, S100, thyroglobulin as well as histochemically with argyrophilic, Fontana-Masson and heterochromatic reactions. The odds ratio (OR) for breed and tumour prevalences were determined: German shepherds showed the highest OR for hemangiosarcomas and boxers for paragangliomas.

Animals↗
PubMed1996

Histidinaemia: a benign metabolic disorder.

Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

L-Carnitine.

Explore the source record for details and available documents.

Carnitine↗
PubMed1995

Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change.

OBJECTIVES: To investigate the extent to which the abnormalities in cerebral white matter in adolescents and adults with phenylketonuria (PKU) are reversible. METHOD: Magnetic resonance imaging (MRI) of the brain was repeated in 41 patients with PKU (age range, 14 to 49 years) after an interval (median, 9 months; range, 3 to 12 months) of dietary intervention. Scans were scored according to the extent of the white matter involvement. After an initial MRI, five patients returned to a strict low-phenylalanine diet with amino acid supplement; 21 patients started a low-protein diet (1 gm/kg) with amino acids supplement; and 15 patients made no dietary alteration. RESULTS: Scans improved in all five patients who returned to a strict low-phenylalanine diet, in 5 of the 21 patients on the low-protein diet plus amino acid supplement, and in 4 of the 15 patients who made no dietary change. There was a significant association between change in the MRI findings and in the blood phenylalanine concentration (Pearson correlation: r = 0.55; p < 0.0002) and between change in the MRI and in the phenylalanine level at the time of the second scan (r = 0.58; p < 0.0001). Improvement was seen primarily in those in whom phenylalanine levels were reduced to less than 900 mumol/L. There was no obvious change in MRI score after 3 weeks of strict phenylalanine restriction for the two adults who underwent serial scanning. CONCLUSION: The MRI changes in PKU are at least partially reversible by lowering the blood phenylalanine concentration.

Adolescent↗
PubMed1995

Temporomandibular disorders. 2. Non-surgical treatment.

There are many treatment modalities for temporomandibular disorders (TMD), most of which are effective in controlling symptoms, at least in the short term. The non-surgical treatment of temporomandibular disorders continues to be the most effective way of managing over 80 per cent of patients who present with symptoms of temporomandibular pain and dysfunction. In this, the second article in the series, a general overview of the current non-surgical treatment strategies for TMD will be presented.

Dental Occlusion, Balanced↗
PubMed1995

Absence of acidosis in the initial presentation of propionic acidaemia.

The clinical presentation and results of the initial biochemical and haematological investigations in 11 newborn term infants with propionic acidaemia are described. All patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood ammonia. A diagnosis of propionic acidaemia should be considered in all newborn infants with unexplained neurological deterioration even in the absence of a metabolic acidosis.

Acidosis↗
PubMed1995

[Causes of illness in young dogs in necropsy files (1980-1993)].

Between 1980 and 1993 a total of 10,090 dogs was dissected at the Institute for Veterinary Pathology of the Freie Universität of Berlin. 2956 (29.3%) of the dogs were younger than 18 months. Age-, breed- and sex distribution as well as death causes were examined. The main death causes were viral infectious diseases (51.76%), especially parvovirus infections (26.73%), canine distemper (18.81%), as well as congenital defects (6.36%). It could be shown that Rottweilers and German Shepherds carried an increased risk of parvovirus infections and that several miniature breeds showed a propensity for congenital defects.

Age Distribution↗