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Biomedical subjects

C M Hall

Publications and source records attributed to C M Hall.

At least 109 records · Page 6Linked to original sources

Mesomelic limb shortness: a previously unreported autosomal recessive type.

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

Abnormalities, Multiple↗

Current results of surgery for achalasia of the cardia.

Several treatment options are available in the management of achalasia of the cardia. Of a recent series of 14 children, 12 were treated by a modified Heller's myotomy combined with a floppy Nissen fundoplication. Symptoms were dramatically improved in nine during a mean follow up period of 3.9 years. Recurrent oesophageal pain was the most resistant symptom and continued to be moderately severe in three patients, two of whom obtained temporary relief by oesophageal balloon dilatation. Two patients treated by pneumatic dilatation alone have residual symptoms. These results support a primary surgical approach to the management of achalasia in children.

Adolescent↗

Case report: hypomagnesaemia in a patient with acromesomelic dysplasia.

Hypomagnesaemia and acromesomelic dwarfism are both rare inherited disorders. We report the first case of both these conditions occurring in the same patient. Our child and his family pedigree are further evidence that both these diseases are inherited as autosomal recessive conditions. There is no known association between these two diseases.

Bone and Bones↗

Two unusual cases of nephrocalcinosis in infancy.

Nephrocalcinosis is uncommon in childhood, the main causes are renal tubular acidosis, hyperparathyroidism and medullary sponge kidney. It is also seen where there is hypercalcaemia or hypercalciuria of any aetiology; We report nephrocalcinosis in an 18-month-old infant with metaphyseal chondrodysplasia type Jansen and also in a neonate with McCune Albright syndrome who displayed atypical skeletal appearances and had multiple ovarian cysts.

Female↗

Effects of NSAIDs on beagle crevicular cyclooxygenase metabolites and periodontal bone loss.

This investigation focuses on the changes in the concentrations of cyclooxygenase (CO) products present within the crevicular fluid in naturally-progressing periodontitis in the beagle and the effects of various non-steroidal anti-inflammatory drugs (NSAIDs) on these metabolite levels and disease progression. Six groups of 5-6 beagles with periodontitis were followed for 6 months to determine the pretreatment rate of radiographic bone loss. At baseline, groups of animals were placed on soft chow to promote disease progression. Groups were treated with either placebo, three different formulations of systemic ibuprofen, systemic naproxen or topical flurbiprofen. During the 6-month treatment phase, crevicular fluid (CF) samples and radiographs were taken at regular intervals. Radioimmunoassay of CF samples from untreated animals demonstrated a steady increase in prostaglandin E2 (PGE2) over baseline values. At 1 month, CF-PGE2 levels increased 2-fold over baseline and, by 6 months, had reached a 5- to 6-fold elevation. Crevicular fluid thromboxane B2 (CF-TxB2) levels rapidly reached a 4- to 5-fold peak over baseline at 1 month and subsequently dropped to a 2-fold elevation for the remainder of the study. The rate of bone loss (BLOSS) in untreated animals increased 38% during the 6-month period, as compared to baseline pretreatment BLOSS rates. Overall, there was a significant depression in the CF levels of both PGE2 and TxB2 in all NSAID-treated groups. All NSAID treatments significantly retarded BLOSS, ranging from 21.0-36.9% of the control BLOSS rate. Furthermore, CO activation represents a major regulatory step in bone destruction and may thereby serve as an important site for pharmacological modulation.

Administration, Oral↗

A new lethal sclerosing bone dysplasia.

A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.

Bone Diseases, Developmental↗

Clavicular overgrowth in association with cystic hygroma.

Cystic hygroma is a rare congenital abnormality of the lymphatic system of the neck which is now considered to form part of a spectrum of lymphangiomatous malformations. Lytic bone lesions are described in systemic lymphangiomatosis and bony overgrowth (hemihypertrophy) in association with angiomatous malformations of the limbs. Two infants with ipsilateral clavicular overgrowth adjacent to cystic hygromas are reported. This association has not been recorded previously; the possible etiology is discussed.

Clavicle↗

Expression of neuronal intermediate filament proteins ON1 and ON2 during goldfish optic nerve regeneration: effect of tectal ablation.

Goldfish retinal explants were used to study optic tectum participation in the regulation of intermediate filament protein synthesis in retinal ganglion cells during optic nerve regeneration. Retinas were explanted at various times after removal of the contralateral optic tectum. The synthesis of the intermediate filament proteins ON1 and ON2 in the cultures was quantitated by labeling with [35S]methionine, followed by two-dimensional gel electrophoresis, autoradiography, and densitometry. Neuritic growth from the explants was quantitated based on fiber length and density. In retinal explants placed in culture after 23 days of optic nerve regeneration, the synthesis of ON1 and ON2 was reduced when the tectum had been ablated. In contrast, synthesis of these proteins in explants placed in culture at an earlier stage of regeneration was not affected by tectal ablation. At all time points tested, neuritic outgrowth from retinal explants was stimulated by tectal ablation. These findings indicate that the synthesis of the ON1 and ON2 intermediate filament proteins during regeneration is not directly regulated by axonal volume. Further, our findings suggest that interaction between growing axons and tectum is important for sustained expression of these proteins during the later stages of optic nerve regeneration.

Animals↗