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Biomedical subjects

T Diamond

Publications and source records attributed to T Diamond.

At least 127 records · Page 7Linked to original sources

Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.

Adolescent↗

The natural history of vesicoureteric reflux in children with neuropathic bladder and open neural tube defects.

Vesicoureteric reflux in children with neuropathic bladder and open neural tube defects has been reviewed to determine its natural history. In 78%, reflux was identified during the first 2 years, emphasising the importance of investigation in the neonatal period and at regular intervals thereafter. Deterioration occurred in 67%. Those most likely to deteriorate had a flaccid detrusor and bilateral reflux, which was grade 4 or greater at the time of diagnosis. Only 24% remained unchanged and in only 9% did reflux resolve spontaneously. Many patients were treated by continuous or intermittent catheterisation, or by surgical procedures to reduce outflow obstruction, but with disappointing results. Surgical intervention for deteriorating upper tracts was usually late and involved extensive procedures such as nephroureterectomy or urinary diversion. The results suggest that treatment should be aimed primarily at restoration of the anti-reflux function of the vesicoureteric junction. Using endoscopic subureteric Teflon injection (STING) at an early stage, especially in the at risk group, it should be possible to avoid ongoing renal damage and more extensive, salvage surgery at a later date.

Adolescent↗

Social policy and everyday life in nursing homes: a critical ethnography.

This is an ethnographic account of nursing homes in the United States. I draw connections between social policies and specific consequences for everyday life in this environment. This paper focuses on nursing assistants' wages, the economic impact of long term care on patients, the passification process of patient life, the invisibility of caring work, and the framing of everyday life into the concepts of capitalist industry. The primary data in the research are comments and conversations of nursing assistants and patients. Their standpoint, I conclude, is often opposed to the organizational logic of business that increasingly encases nursing home life.

Activities of Daily Living↗

Relative utility of three indices of neuropsychological impairment in a young, chronic schizophrenic population.

The complete Halstead-Reitan Neuropsychological Test Battery and the Wechsler Adult Intelligence Scale were administered to 20 young, male, chronic schizophrenics. Three commonly used indices of neuropsychological impairment were calculated and compared. Although all three indices were similar in separating computerized axial tomography normal from abnormal patients, statistical significance was achieved only with the Halstead Impairment Index. Thus, the easier-to-obtain Halstead Impairment Index appears to be at least as good as, and possibly better than, the more-difficult-to-obtain indices of Percent of Ratings within the Impaired Range and the Average Impairment Rating. Reasons for these findings are discussed.

Adult↗

Meckel's diverticulum in the adult.

Meckel's diverticula were removed from 49 adult patients during a 15 year period. In 24 (49 per cent) of the patients the diverticulum was the cause of symptoms while in the remaining 25 it was an incidental finding at laparotomy. Of the symptomatic patients, 10 had acute inflammation of their diverticula, 8 presented with small bowel obstruction (in 4 cases due to fibrous bands) and 4 attended because of gross rectal bleeding; of the 2 remaining patients one was found to have intussusception of Meckel's diverticulum into the terminal ileum whilst the other had a nodule of calcified material lying within a partly gangrenous vitellointestinal duct. There was no operative mortality in the series. Heterotopic tissue was noted histologically in six Meckel's diverticula, all of which produced symptoms. The importance of considering a diagnosis of Meckel's diverticulum in the young adult presenting with acute small bowel obstruction or rectal bleeding is emphasized.

Adolescent↗

Glutamine improves intestinal barrier function in experimental biliary obstruction.

OBJECTIVE: To determine the effects of enteral administration of glutamine on intestinal barrier function in experimental biliary obstruction. BACKGROUND: Extrahepatic biliary obstruction is associated with the failure of intestinal barrier function, allowing bacteria and other substances from the intestine to enter the circulation and initiate a systemic inflammatory response, causing impairment of multiple organs. The amino acid glutamine has been shown to improve intestinal barrier function in other conditions, but its effects in biliary obstruction have not been fully examined. METHODS: This study examined the effects of enteral administration of glutamine on intestinal permeability and on bacterial translocation from the intestine in a rodent model of biliary obstruction. RESULTS: Glutamine was shown to reduce intestinal permeability measured as percentage excretion of 14C 7 days after biliary obstruction (0.35+/-0.03 vs. 0.56+/-0.085% in controls, p=0.028), and glutamine administration was also associated with a decreased incidence of bacterial translocation to extra-intestinal sites (p=0.03). Radiolabelled bacterial studies also demonstrated reduced translocation of bacterial fragments to extra-intestinal sites in glutamine-treated animals (p=0.01). There was also some evidence of decreased exposure to endotoxin, reduced systemic inflammation and increased bacterial killing by the immune system in glutamine-treated animals. CONCLUSIONS: Glutamine modulates intestinal permeability and reduces bacterial translocation in an animal model of experimental biliary obstruction and may increase bacterial killing by the immune system.

Administration, Oral↗

Transection of the pancreatic head following blunt abdominal trauma.

Pancreatic trauma is rare, with a reported incidence of 0.4 per 100,000. Transection of the pancreas is extremely rare and usually involves the body region. An unusual case of pancreatic trauma, with complete transection through the pancreatic head, is described.

Adult↗

Operative viva F.

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Education, Medical, Graduate↗

Operative viva E.

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Anastomosis, Surgical↗

Operative viva D.

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Colectomy↗