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Biomedical subjects

B D Lake

Publications and source records attributed to B D Lake.

At least 91 records · Page 5Linked to original sources
PubMed1988

Microvillus inclusion disease: specific diagnostic features shown by alkaline phosphatase histochemistry.

A technique using alkaline phosphatase histochemistry on routine sections of four jejunal biopsy specimens and one necropsy sample was applied to show that alkaline phosphatase activity, normally present in the brush border, occurs in the enterocytes of patients with microvillus inclusion disease. Sections were cut at 5 micron, mounted on to glass slides, and dried overnight at 37 degrees C before staining for alkaline phosphatase activity by the indoxyl phosphatase nitro blue tetrazolium method. Incubation periods amounted to 10 minutes for biopsy specimens and 30 minutes to one hour for necropsy samples. The demonstration of alkaline phosphatase activity in routinely processed biopsy specimens provides an effective, quick, and definitive test in the diagnosis of microvillus inclusion disease without recourse to electron microscopy.

Alkaline Phosphatase↗
PubMed1987

Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry.

Six patients with disorders of peroxisomal function have been studied. Two presented in the neonatal period with the classical features of the Zellweger syndrome, two had incomplete Zellweger phenotypes, one infantile Refsum's disease and one rhizomelic chondrodysplasia punctata. Plasma bile acid profiles were determined using capillary gas chromatography-mass spectrometry. In all patients, except the case of chondrodysplasia punctata, 27-carbon and 29-carbon bile acids were present. The compounds identified included trihydroxycoprostanic acid (THCA), dihydroxycoprostanic acid (DHCA), C24-, C25- and C26-hydroxylated derivatives of THCA, a 27-carbon acid with four nuclear hydroxy groups and 3 alpha,7 alpha,12 alpha-trihydroxy-27a,27b-dihomo-5 beta-cholestan-26, 27b-dioic acid (C29-dicarboxylic acid). THCA was present at a low concentration in the patient with infantile Refsum's disease; the concentration of DHCA and the C29 dicarboxylic acid were considerably higher. The presence of abnormal bile acids in patients with Zellweger syndrome and infantile Refsum's disease could be explained by the absence of peroxisomes from their hepatocytes. In chondrodysplasia punctata the cause of peroxisomal dysfunction must be different, since normal bile acid synthesis is preserved.

Abnormalities, Multiple↗
PubMed1987

Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases.

The clinical features of eight children with infantile neuroaxonal dystrophy are presented. Diagnosis was established by brain biopsy (4 cases), conjunctival biopsy (1 case), and the family history (2 cases), while in one case a presumptive diagnosis was made on the combination of clinical and neurophysiological findings without histopathological confirmation. The pleomorphic clinical picture and variable neurophysiological findings make a firm diagnosis difficult without histopathological confirmation. However, in the appropriate clinical context, serial neurophysiological investigations (ERG, VEP, EEG, ENMG) may suggest the diagnosis after the age of 2 years. Conjunctival biopsy is not invariably helpful, and neuroaxonal spheroïds are not always demonstrated in brain biopsies by conventional techniques. However, they were consistently identified using a non-specific esterase stain and by electron microscopy. This technique is described, and the significance of ultrastructural and neuropathological findings in infantile neuroaxonal dystrophy is discussed.

Axons↗
PubMed1987

Cell adhesion molecule N-CAM is expressed by denervated myofibres in Werdnig-Hoffman and Kugelberg-Welander type spinal muscular atrophies.

Immunocytochemical analysis utilising antibody to neural cell adhesion molecule (N-CAM) was carried out on skeletal muscle biopsies from patients with childhood spinal muscular atrophy. Children with both Werdnig-Hoffmann and Kugelberg-Welander disease showed positive N-CAM reactivity. There were however differences in the N-CAM expression profiles in these two sets of patients. All myofibres were positive for N-CAM in the Werdnig-Hoffmann patients. This included both the normal sized fibres and the atrophic fibres. In contrast only the atrophic fibres were positive in the Kugelberg-Welander patients. No reactivity was found associated with the large hypertrophic fibres. It is likely that in the Werdnig-Hoffmann patients the positive N-CAM reactivity reflects unstable innervation of myofibres that had been previously innervated. A similar mechanism may operate in the Kugelberg-Welander patients, but the innervation of the hypertrophic fibres is more stable as they are able to repress N-CAM expression. These results contrast with a lack of N-CAM expression found previously on muscle biopsies from adults with denervation disease.

Antigens, Surface↗
PubMed1986

Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syndrome. The histology of the muscle biopsy shows a wide range fibre diameter in type 1 and type 2 fibres with a relative deficiency of type 2b fibres. It is suggested that this condition may be primarily a myopathy.

Abnormalities, Multiple↗
PubMed1985

Acid maltase deficiency in adults. Diagnosis and management in five cases.

Five patients with adult onset acid maltase deficiency are described. All patients had developed their initial pelvic girdle symptoms late in the second or early in the third decade and some years later developed signs of respiratory insufficiency. Typically they were tall, had weak and wasted paraspinal and gluteal muscles with lower limb weakness. All were orthopnoeic with marked diaphragmatic weakness. In all patients characteristic glycogen vacuoles were seen in peripheral blood lymphocytes. Muscle biopsy was characteristic in only 1 out of 4 cases and showed minimal or nonspecific features in 3. The diagnosis was confirmed by enzyme assay in muscle and cultured fibroblasts. Long-term domiciliary ventilatory support (25 patient-years) using a rocking bed or intermittent positive pressure respiration with a tracheostomy has allowed a return to work in all patients, with their clinical condition remaining stable.

Adult↗
PubMed1983

A quantitative cytochemical method for phosphofructokinase in plant tissues.

A quantitative cytochemical method for the demonstration of phosphofructokinase has been successfully applied to a range of plant tissues. The findings indicate that this enzyme system may be assayed as an indicator of glycolytic activity in plant cells, and furthermore tha the very high endogenous phosphoenolpyruvate concentrations may not be rate limiting in vivo.

Histocytochemistry↗
PubMed1983

Possible manifestation of the dystrophic X chromosome in muscle cultures from carriers of Duchenne muscular dystrophy.

Multilayer cell clusters have been observed before confluence and before myotube formation in muscle cell cultures derived from open biopsies of 7 of 14 (50%) female carriers of Duchenne muscular dystrophy, and in a high percentage of other dystrophic cultures. By contrast, this abnormality was seen in only 12 of 204 (6%) muscle biopsies from patients with other neuromuscular disorders. It appears that cluster formation is independent of the amount of connective tissue present in vivo, because histopathological analysis of the carrier biopsies showed increased endomysial connective tissue in only two cases. These results suggest that cluster formation is an expression of a myogenic defect and that it may be a manifestation of the genetic abnormality in X-linked muscular dystrophy.

Adolescent↗
PubMed1983

Complications of rectal suction biopsy.

Complications following use of the rectal suction biopsy technique in the diagnosis of Hirschsprung's disease, are rare. In a series of 1,340 consecutive biopsies, complications included three clinical perforations of the bowel, one resulting in death, and three rectal hemorrhages requiring transfusion. A plea is made for the use of greater care in this technique.

Biopsy↗
PubMed1983

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.

Two newborn infants with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. Review of the literature revealed twenty previously reported cases of this syndrome. Electron microscopic examination of the ileum and urinary bladder showed vacuolar degenerative changes in the smooth muscle cells with abundant amount of connective tissue between the muscle cells. These ultrastructural findings suggest that a degenerative disease of smooth muscle may be the cause of megacystis microcolon intestinal hypoperistalsis syndrome.

Abnormalities, Multiple↗
PubMed1983

Involvement of the central nervous system in congenital muscular dystrophies.

Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed.

Adolescent↗
PubMed1982

Metachromatic leucodystrophy: review of 38 cases.

Clinical and laboratory features of 38 children suffering from metachromatic leucodystrophy (MLD) are reported. Twenty-four children with the late infantile form of MLD presented between ages 6 and 25 (mean 17) months with a delay or deterioration in walking, followed by a general loss of abilities. There was severe handicap by age 3 years and death occurred between 5 months and 8 years after presentation. Neurological signs at the time of diagnosis were varied. Motor nerve conduction velocity was slowed in the 18 children tested. The disease became evident at a later age in 14 children. One boy presented at 13 years, while in the remainder there appeared to be two clinical patterns of the disease which could be termed (1) early juvenile or intermediate and (2) juvenile MLD. In 7 children with early juvenile or intermediate MLD a gait disorder developed between ages 4 and 6 (mean 5) years. This was accompanied in 4 children, and followed between 8 and 26 months later in the remaining 3, by loss of other abilities. Neurological signs were varied. Motor nerve conduction velocity was slowed in 2 of the 5 patients tested. Six children with juvenile MLD presented between ages 6 and 10 years with educational or behavioural difficulties. Motor disorders arose from 6 months to 4 years later. Neurological signs at the time of diagnosis, although mixed, were predominantly extrapyramidal and motor nerve conduction velocity was slowed in 2 of the 3 children tested. In the early juvenile form of MLD, progression of the disease was slower than in the late infantile form and death occurred between 31/2 and 18 years after presentation. Only one-third of patients had fits and these tended to be a late feature.

Child↗