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Biomedical subjects

M Malone

Publications and source records attributed to M Malone.

At least 109 records · Page 6Linked to original sources
PubMed1992

Lethal congenital erythroderma: a newly recognised genetic disorder.

We report 4 patients and their extended families comprising 17 cases, all of whom had congenital exfoliative erythroderma resistant to treatment, associated with failure to thrive and hypoalbuminaemia. All died in the first year of life. This condition appears to be inherited in an autosomal recessive manner and the underlying defect remains unknown.

Consanguinity↗
PubMed1991

Pellagra with colitis due to a defect in tryptophan metabolism.

A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-hydroxy-kynurenine, xanthurenic acid and N1-methyl nicotinamide. These results indicated a defect in the hydroxylation of kynurenine, an important reaction in the synthesis of the nicotinamide nucleotide coenzymes, NAD and NADP, from tryptophan. The patient went on to develop severe colitis and psychological changes. All her symptoms responded to treatment with nicotinamide.

Child↗
PubMed1991

Cytogenetic analysis of primitive neuroectodermal tumors. Absence of the t(11;22) in two of three cases and a review of the literature.

Cytogenetic analyses on direct and short-term cultures from three peripheral primitive neuroectodermal tumors (PNET) showed only one tumor with the t(11;22)(q24;q12), a translocation reported as characteristic of this tumor type. A second tumor contained rearrangements including apparent deletions of chromosomes 11 and 22 between bands 11q21 and 11qter and between bands 22q11.2 and 22qter, respectively. A third tumor contained two normal copies of 11q but appeared to be monosomic for 22. We consider these findings in light of a survey of the PNET literature.

Adolescent↗
PubMed1991

The histiocytoses of childhood.

The histiocytoses of childhood include Langerhans' cell histiocytosis, haemophagocytic syndrome (familial and reactive), sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease), juvenile xanthogranuloma and malignant histiocytosis. These disorders show wide variation in their clinical presentation, prognosis and genetic implications. All are characterized by localized or generalized proliferation of histiocytes, but they differ in their morphology, histochemical and immunochemical staining patterns and electronmicroscopical features. On the basis of a comprehensive clinical history and critical interpretation of morphology and immunocytochemistry using an appropriately selected panel of antibodies, a diagnosis can be reached in the majority of cases.

Child↗
PubMed1990

Langerhans cell histiocytosis: the case for conservative treatment.

Fifty eight children with Langerhans cell histiocytosis who were referred to this hospital between 1980 and 1987 were studied. Fourteen had single system disease, and 44 had multisystem disease, of whom 22 had vital organ dysfunction. A conservative approach to treatment was adopted, and when systemic treatment was indicated a short course of prednisolone was used first. Eight of the patients with single system disease required no treatment, while six received local treatment alone. Eight of the patients with multisystem disease did not require systemic treatment, 17 were given prednisolone alone, and 19 were given cytotoxic drugs. Of the 14 with single system disease 13 had no long term after effects. Eight of the patients with multisystem disease died, 24 had long term after effects, and 12 had none. Outcome was related to age and Lahey score. These results compare favourably with other series in which more aggressive approaches were used, and support our conservative approach to treatment.

Adolescent↗
PubMed1989

Rhabdomyosarcoma in children: a histological and immunohistochemical study of 59 cases.

Recent studies have suggested that rhabdomyosarcoma can be divided into favourable and unfavourable histology groups. Those subtypes comprising the unfavourable histology group are alveolar, monomorphous round cell and anaplastic rhabdomyosarcoma, with a favourable histology group of embryonal rhabdomyosarcomas. An immunohistological study was undertaken on 59 childhood rhabdomyosarcomas, using antisera to keratin, S100 protein, vimentin, desmin, myoglobin, and troponin T. Our results suggest that desmin is the single most useful antibody in the diagnosis of rhabdomyosarcoma and was expressed in all our cases. The expression of troponin T in the majority of embryonal rhabdomyosarcomas but not in the other histological types has prognostic implications.

Child↗
PubMed1989

Osteosarcoma--presumed lymph node metastases in two cases.

Two patients with osteosarcoma of a lower limb and presumed lymph node metastases are described. The metastases presented in both children as palpable masses, one in the inguinal region and the other in the pelvis. One was visible on plain radiography; both were demonstrated on computed tomography and bone scintigraphy. The inguinal mass was present at the first examination and was resected with the primary lesion. The pelvic mass presented 12 months after amputation and was unresectable; its subsequent rapid growth was demonstrated by computed tomography. In one patient the osteosarcoma was of the osteoblastic type.

Adolescent↗
PubMed1989

4-S neuroblastoma on high field MR.

The appearance of 4-S neuroblastoma imaged with high field strength MR are reported. The correlative pathological findings are described.

Adrenal Gland Neoplasms↗
PubMed1989

The biophysics of differential growth.

The intrinsic control of uniform and differential growth of plant cells can be traced to a small number of physical parameters. These are cell wall rheology, membrane and tissue hydraulic conductivity, and membrane and tissue solute transport. Water and solute effects are manifested as alterations in turgor pressure. Environmental and biochemical processes always channel their effects through one or more of these parameters. Technical developments such as the pressure probe and Instron tensiometer, together with a reappraisal of older techniques, are beginning to allow assessment of the relative roles of these factors. Although the importance of cell wall rheology is becoming increasingly apparent, there is still insufficient information to allow generalized conclusions regarding the role of turgor pressure in differential growth. This review considers attempts to correlate these parameters with observed anatomical growth patterns.

Biophysical Phenomena↗
PubMed1989

Home parenteral nutrition: effect of patients' lifestyle.

The effect of home parenteral nutrition (HPN) on the lifestyle and employment of 30 patients was assessed by a standard questionnaire. Details of the parenteral nutrition and infusion routines, general health, involvement in treatment and the role of the HPN clinic were also investigated. HPN was found to have a major effect on employment prospects and leisure activities. All patients wanted to know more about their nutritional requirements, their assessment and their needs.

Journal Article↗
PubMed1989

Comparison between continuous and intermittent infusion regimens of cimetidine in ulcer patients.

The relative effectiveness of intermittent infusions and primed continuous infusions of cimetidine in the maintenance of intragastric pH greater than or equal to 4.0 was evaluated in a double-blind crossover trial in 26 patients who had active or healed gastroduodenal ulcers. During the intermittent phase, each patient received 300 mg cimetidine intravenously every 6 hours. During the continuous infusion phase, each patient was given a continuous infusion of 37.5 mg cimetidine per hour, preceded by a priming dose of 300 mg cimetidine that was given for 15 minutes. Intragastric pH was monitored continuously. During the last 12 hours of the study, the continuous infusion regimen provided 20% more time in which the pH was more [corrected] than 4.0 with 25% less medication than did the intermittent infusion regimen.

Adolescent↗