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Biomedical subjects

H A Reid

Publications and source records attributed to H A Reid.

At least 19 recordsLinked to original sources

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with five loci identified thus far. The spectrum of disease includes diverse malformations of the kidney and lower urinary tract. The incidence of BBS is approximately 1/100,000 with a predicted heterozygote frequency of 1/160, and it has been suggested that heterozygotes are at increased risk of obesity and hypertension. METHODS: We describe renal disease in relatives of 109 UK BBS patients. Using PCR with fluorescent microsatellite markers we amplified DNA derived from renal tumours of affected parents to determine whether there was loss of heterozygosity at any of four BBS loci and two other gene loci associated with clear cell renal cell carcinoma (CC-RCC). RESULTS: CC-RCC was diagnosed in three of 180 BBS parents and there was loss of heterozygosity at BBS1 (11q13) in the tumour tissue of one of these subjects. In addition, there was a high incidence of renal agenesis in siblings of BBS patients and two BBS families were identified with apparently dominant inheritance of renal malformations. In one family we were able to demonstrate that renal malformations segregated with the BBS2 locus (16q21). CONCLUSIONS: Since all parents and two-thirds of siblings of BBS patients must be heterozygous for BBS mutations, our observations may implicate BBS genes in the pathogenesis of both renal cancer and malformations, both disorders of precursor cell growth and differentiation. We suggest these observations may have important implications for screening potential BBS carriers for kidney disease and may lead to a greater understanding of the aetiology of renal disease in the general population.

Adult↗

Severe neurotoxic envenoming by the Malayan krait Bungarus candidus (Linnaeus): response to antivenom and anticholinesterase.

Five patients were bitten by the Malayan krait Bungarus candidus (Linnaeus) in eastern Thailand or north western Malaya. Two patients were not envenomed but the other three developed generalised paralysis which progressed to respiratory paralysis in two cases, one of which ended fatally. One patient showed parasympathetic abnormalities. Anticholinesterase produced a dramatic improvement in one patient. Another patient probably benefited from paraspecific antivenom. The efficacy of antivenoms and adjuvants such as anticholinesterases in patients with neurotoxic envenoming requires further study.

Adolescent↗

Renal oncocytoma. A review of the literature and report of an unusual multicentric case.

Renal oncocytoma is a rare tumour of the kidney composed exclusively of large polygonal cells with eosinophilic, granular cytoplasm. Ultrastructurally they are distinguished by the presence of large numbers of mitochondria and histochemically by abundant oxidative enzymes and adenosine triphosphate. Macroscopically these tumours are usually light brown in colour and commonly exhibit a dense central area of fibrous scarring, with fibrous trabeculae extending from this central zone in a stellate fashion. Renal oncocytomas are commoner in males than females (sex ratio 2:1) and although the age range at presentation is wide, there is a peak incidence in the seventh decade. The prognosis following surgical removal is excellent, despite the fact that many of these tumours are large. Invasion of the perirenal fat and the renal vein and metastatic spread to regional lymph nodes is documented, but death from metastatic disease is rare. The great majority of renal oncocytomas reported are solitary. We describe a multicentric renal oncocytoma, the sixth so far reported.

Adenoma↗

Protective effect of snake venom antibodies in sera of previous snake bite victims.

Three out of seven serum samples from Ecuadorian Indians had very high antibody levels against Bothrops nasutus venom, and IgG concentrates of these sera effectively neutralized this venom when subsequently injected into mice. It is concluded that the high mortality rate among these Indians would be even higher if there were not such natural protection. Further research into active immunization of humans should be encouraged.

Animals↗

Neuroblastoma arising in a mature cystic teratoma of the ovary.

A case is described of a neuroblastoma which appeared to arise in a mature cystic teratoma of the ovary. The literature concerning neural tumours of the ovary is briefly reviewed and the grounds for believing that the development of such neoplasms is an indication of the presence of immature neuroepithelial components in a teratoma, rather than a result of malignant change in a fully mature teratoma, are discussed.

Adolescent↗

The management of snake bite.

The present article reviews current knowledge on the epidemiology, pathophysiology, and treatment of snake bite, with particular reference to the situation in developing countries. There is little reliable information on the incidence of snake bite in many parts of the world, and epidemiological studies are needed, using enzyme-linked immunosorbent assay to identify and quantify serum levels of venom antigen and antibody. The pathophysiology and clinical features of envenoming by medically important snakes are discussed. Antivenom, if used correctly, can reverse systemic poisoning even if given days after the bite. It is therefore wise to wait for the appearance of signs of systemic poisoning before administering antivenom, rather than using it routinely. WHO has designated the Liverpool School of Tropical Medicine as a Collaborating Centre for the Control of Antivenoms, and this Centre now holds a collection of reference venoms from several important snake species. Characterization of these and of standard antivenoms should significantly improve the management of snake bite throughout the world.

Antivenins↗

Development of simple standard assay procedures for the characterization of snake venom.

In accordance with the recommendations of the report of a WHO Coordination Meeting on Venoms and Antivenoms, methods have been developed for the assessment of lethal, defibrinogenating, procoagulant, haemorrhagic, and necrotizing properties of venoms, and used to study 53 venoms from 30 different species of snakes of medical importance throughout the world. The venoms studied included Echis carinatus (Iran), Naja naja kaouthia (Thailand), Notechis scutatus (Australia), Trimeresurus flavoviridis (Japan), Vipera russelli (Thailand), and Crotalus atrox (USA), which comprise six of the eight venoms designated by WHO as international reference venoms (IRVs). (C. atrox venom replaced C. adamanteus venom, as an adequate supply of the latter was not available.) The tests used were simple and should be reproducible in other laboratories throughout the world. Procedures for assaying neuromuscular paralytic activity and systemic myotoxic activity have yet to be developed.The tests will be used to assay the neutralizing potency of both international standard antivenoms (raised using the IRVs) and new and currently available commercial antivenoms. Such studies should result in the production of more potent antivenoms for use in both developing and developed countries, and improve the understanding and management of snake bite throughout the world.

Animals↗

Enzyme-linked immunosorbent assay of venom-antibodies in human victims of snake bite.

The development, incidence, persistence, and significance of specific venom-antibodies were studied in 357 human victims of snake bite in Nigeria using the enzyme-linked immunosorbent assay (ELISA). Venom-antibody was not detected within 2 weeks of envenoming but was present within 2 months of the bite despite therapeutic antivenom being given. ELISA confirmed the medical importance of the carpet viper Echis carinatus in Nigeria but also showed that bites by other venomous species are more common than previously suspected. Venom-antibodies may wane with time but nevertheless were still present 40 years after the original envenoming. Clinical studies suggested that venom-antibody titres too low to be detected by ELISA may be boosted with further bites; and more importantly, homologous venom-antibody may afford significant protection against further envenoming. ELISA can help both in advancing the epidemiology of snake bite and in exploring the role of active immunization.

Adolescent↗

Snake venom antibodies in Ecuadorian Indians.

Serum samples from 223 Waorani Indians, a tribe in eastern Ecuador, were investigated by enzyme-linked immunosorbent assay for antibodies to snake venom. Seventy-eight per cent were positive, confirming the highest incidence and mortality from snake bite poisoning yet recorded in the world. Most samples were positive for more than one venom antibody. Antibodies were found to venoms of Bothrops viper in 60% of positive cases, of Micrurus coral snake in 21%, and of the bushmaster, Lachesis muta, in 18%. Further studies are needed to determine whether high venom-antibody levels afford protection against further snake envenoming.

Adolescent↗

Oat cell carcinoma of the esophagus.

A case of oat cell carcinoma of the esophagus is reported. The tumor cells were argyrophilic and electron microscopic examination showed that they contained dense-core granules typical of oat cell carcinoma of the lung and other sites. It is concluded that primary oat cell carcinoma of the esophagus is a recognizable entity derived from argyrophil cells in the esophageal mucosa. The existence of rare esophageal carcinomas with both oat cell and squamoid features is noted and their possible histogenesis is discussed.

Carcinoma, Small Cell↗

Chronic cardiac beriberi in a former prisoner of the Japanese.

1. A case is described of an Englishman who suffered severe 'wet beriberi' whilst a prisoner of war (POW) of the Japanese in World War II. 2. Following release he developed a congestive cardiomyopathy which increased in severity until his death 31 years after repatriation. 3. Autopsy findings were consistent with chronic cardiac damage due to beriberi.

Beriberi↗

Bites by the carpet viper in the Niger Valley.

60 people who had been bitten by the carpet viper, Echis carinatus, were seen in four months at Zungeru Health Centre, in North West Nigeria, where snake-bite patients have recently occupied 10% of beds. Health statistics greatly underestimate the frequency, morbidity, and mortality of snake bite in the rural tropics and further studies will probably confirm other areas endemic for E. carinatus within its vast distribution zone. Regular supplies of effective antivenom are crucial to gain a community's confidence in conventional, as opposed to traditional, treatment. Paramedical staff in a rural clinic can be trained in the definitive management and treatment, including successful antivenom therapy, of most snake-bite patients.

Humans↗