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Biomedical subjects

A Fahmy

Publications and source records attributed to A Fahmy.

At least 19 recordsLinked to original sources
PubMed1993

A mild form of mucolipidosis type III in four Baluch siblings.

Four Baluch siblings with mucolipidosis type III (pseudo-Hurler polydystrophy) are described. The patients had features commonly found in mucolipidosis III, including claw hands, joint stiffness, aortic valve involvement and radiological dysostosis multiplex. However, intelligence was normal, there were no eye abnormalities on slit-lamp examination and skin elasticity was normal. Many lysosomal enzymes were elevated in serum and diminished in cultured fibroblasts, although the findings for beta-galactosidase were atypical. Assays for the two enzymes involved in formation of the phosphomannose recognition marker revealed normal activity of the phosphotransferase with alpha-methylmannoside as an acceptor, and normal activity of the phosphodiester glycosidase. Metabolic labelling of fibroblasts with 32P followed by immunoprecipitation of cathepsin D, electrophoresis and fluorography showed that this enzyme was not labelled in the patients' cells, although some label was detected in the secreted precursor polypeptide. The data are consistent with the assumption that activity of the phosphotransferase is low towards lysosomal enzymes as substrates, and that the patients belong to complementation group C.

Arylsulfatases↗
PubMed1993

Unusual clinical presentations of secundum atrial septal defect.

Atrial septal defect (ASD) is one of the most common congenital cardiac anomalies found in the adult population. Although usually asymptomatic in childhood, ASD will be symptomatic in approximately 75 percent of adults. The most common symptoms include fatigue, dyspnea on exertion, and palpitations. However, the presentation of ASD can be protean. We present four patients with secundum ASD with unusual clinical manifestations. Patient 1 had moderately severe mitral regurgitation. Patient 2 had pulmonary edema with generalized left ventricular impairment. Patient 3 had chest pain typical of angina pectoris. Patient 4 had right-to-left shunt following an orthopedic surgical procedure. These patients had chest radiographs and electrocardiograms typical of secundum ASD, but their presentations were uncommon. In three of four of these patients, dramatic resolution of symptoms followed surgical repair of their ASD.

Adult↗
PubMed1987

The effect of glucose on insulin release and ion movements in isolated pancreatic islets of rats in old age.

1. The effect of glucose on 86Rb+ efflux, 45Ca2+ net uptake and insulin secretion of pancreatic islets from 3- and 24-month-old rats was studied. 2. Raising the glucose concentration from 3 to 5.6 and 16.7 mM had no effect on 86Rb+ efflux from islets of 24-month-old male rats whereas that from 24-month-old female rats was decreased. 3. At 16.7 mM-glucose, net uptake of 45Ca2+ was significantly diminished in islets of 24-month-old rats compared to islets of 3-month-old rats. 4. In the presence of 16.7 mM-glucose, islets of 24-month-old rats exhibited only 60-70% of the insulin release obtained with islets from 3-month-old rats. 5. Neither net uptake of 45Ca2+ nor insulin secretion appear to differ between the sexes. 6. These data suggest that the decreased insulin secretory response to glucose during old age is due, at least in part, to inadequate inhibition of K+ efflux and diminished net uptake of Ca2+.

Aging↗
PubMed1986

Muir-Torre syndrome. Histologic spectrum of sebaceous proliferations.

The sebaceous proliferations seen in patients with Muir-Torre syndrome are unique and difficult to classify. Having reviewed over 50 skin biopsies from five patients with Muir-Torre syndrome, we conclude that the primary proliferation involves the hair follicle and most often resembles either a keratoacanthoma or a sebaceous proliferation, but may have histologic features of both lesions. Unusual patterns seen in the sebaceous components may include solid basaloid sheets, mucinous areas, and convoluted glands.

Adenoma↗
PubMed1985

Failure of glucose to affect 86rubidium efflux and 45calcium uptake of fetal rat pancreatic islets.

Ion movements and insulin secretion of pancreatic islets of adult and fetal rats have been studied at three glucose concentrations. In islets of adult rats, 86Rb efflux is maximally decreased by 5.6 mM-glucose. 16.7 mM-glucose caused a biphasic efflux pattern which may be due to glucose-stimulated Ca uptake. In islets of fetal rats elevation of the glucose concentration from 3 to 5.6 or 16.7 mM does not cause a change of 86Rb efflux, and the fractional efflux from fetal islets in the presence of 3 mM-glucose is similar to that from adult rat islets in the presence of 5.6 mM-glucose. Elevation of the glucose concentration from 3 to 16.7 mM is not associated with an increase in 45Ca uptake into fetal islets, although this change in glucose concentration doubles 45Ca uptake into adult islets. When challenged with 16.7 mM-glucose, fetal islets exhibit no insulin secretory response; however, they do respond to theophylline. It is concluded that the failure of fetal islets to exhibit an insulin-secretory response when challenged with glucose might be related to the inability of glucose to affect 86Rb efflux and Ca uptake. The present data are discussed in light of differences between pancreatic islets of fetal and adult rats with respect to the redox state of pyridine nucleotides, thiols and glucose metabolism.

Animals↗
PubMed1984

Histoplasmosis of the adrenal glands studied by CT.

Computed tomography (CT) of the adrenal glands was performed on seven patients who had histologically proved disseminated histoplasmosis. All seven patients showed some degree of adrenal gland abnormality. The range of CT findings included minimal enlargement with faint flecks of calcium, moderate enlargement with focal low attenuation nodules, and massive enlargement with large areas of necrosis or dense calcification. The changes in each patient were bilateral and symmetrical. Adrenal gland shape was usually preserved. Findings of percutaneous adrenal biopsy, which was performed under CT guidance, made the diagnosis in one patient. Five of seven patients had adrenal insufficiency. We conclude that the diagnosis of disseminated histoplasmosis should be considered in any patient who has bilateral adrenal gland enlargement and who resides in an endemic area, especially if there is evidence of adrenal insufficiency, and that CT is superb for the assessment of adrenal gland morphology in this disease, and CT-directed biopsy is the recommended method of confirming the diagnosis in difficult cases.

Adrenal Gland Diseases↗
PubMed1984

Ethanol-ascorbate interrelationship in acute and chronic alcoholism in the guinea pig.

The effects of low (200 ppm) and of high (2000 ppm) ascorbic acid, in a nutritionally adequate diet, on blood ethanol levels have been studied in permanently carotid-cannulated, ethanol-infused, unanesthetized guinea pigs. In the acute study, the postinfusion rate of ethanol decline in the blood of animals treated with ascorbic acid was significantly higher when compared with animals treated with fructose, and the rate in the two treated groups was significantly higher than in untreated controls. In the chronic study, animals were infused with sublethal doses of ethanol (30% of the total caloric intake) for 8 weeks. Blood ethanol levels monitored throughout this period showed, at 3 hr postinfusion, a lower concentration in the group on a high ascorbic acid diet. Both experimental groups receiving ethanol lost significantly more body weight in the second week of dieting; but, while the group on high ascorbic acid regained weight steadily thereafter, the group on low ascorbic acid was still 50 g below the controls at the end of the experiment. Liver, kidney, and adrenal ascorbic acid concentrations were lower in the ethanol-treated groups compared to controls. Examination of the liver revealed more fatty metamorphosis or steatosis in the low ascorbic acid group, but there was no evidence of liver fibrosis or cirrhosis. These results demonstrate the feasibility of utilizing the guinea pig for the study of the biochemical and morphological sequelae of alcoholism. They further support the contention that a diet which is nutritionally adequate may no longer be so in the presence of high ethanol intake, and that supplemental vitamin C ingestion may afford protection against ethanol toxicity.

Adrenal Glands↗
PubMed1983

Effect of formalin on the survival of systemic fungi in tissue.

Stock cultures of Blastomyces dermatitidis, Candida albicans, Cryptococcus neoformans, Histoplasma capsulatum and Sporothrix schenckii were grown in yeast phase on Sabouraud dextrose agar. Standardized suspensions (10(8) colony forming units/ml) were made and 1. the organisms treated for various times with 10% formalin/acetate buffer; 2. aliquots injected into the tail veins of Swiss-Webster mice. Minimal fungistatic and fungicidal concentrations of formalin were also determined. Five minutes or more of formalin treatment killed all organisms, in vitro, except C. albicans which withstood the 5-minute but not the 30-minute treatment. All fungi, except H. capsulatum which was not recovered, were cultured from mouse heart, kidneys, spleen, lungs and liver prior to but not after 5-minute formalin treatment. All yeasts were susceptible to concentrations of less than 1% formalin. These results emphasize the extreme fungicidal activity of 10% formalin and the uselessness of culturing even very briefly-fixed tissue.

Animals↗
PubMed1983

Mechanisms of splenectomy protection in epinephrine-induced renal and cardiac necrosis.

This study was intended to elucidate the mechanism(s) of protection afforded by splenectomy against EPI-induced ATN and myocardial necrosis. Renal function parameters, hematocrit, circulating catecholamines (EPI and NE), serum enzymes (CPK and SGOT), and urinary PGE2 were measured before and during intravenous infusion of EPI (4 micrograms/kg/min for 6 hr) in intact and chronically splenectomized animals. All but serum enzymes were measured in another group of splenectomized animals that were implanted with small fragments of the autologous spleen (autoimplanted animals) 2 weeks prior to EPI infusion. Renal function tests and urinary PGE2 levels were monitored for several hours during the recovery period. The development of ARF in intact animals was accompanied by marked increases in circulating catecholamine levels, hematocrit, and serum enzymes and by a marked decrease in urinary PGE2 levels. These animals had diffuse ATN and hemorrhagic lesions of the heart (myocardial necrosis), and none survived. Chronically splenectomized animals were protected against the adverse effects of EPI infusion. The protected animals showed minimal elevation of circulating catecholamine levels and no changes in urinary PGE2 levels or hematocrit. Serum enzymes and renal and cardiac histopathology remained essentially normal in these animals. Implantation of autologous splenic tissue in splenectomized animals caused reversal of the protective effect of splenectomy. The response of autoimplanted animals to EPI infusion was in all respects similar to that in intact animals with the exception of hematocrit, which did not rise. All autoimplanted animals survived. They showed prompt recovery of renal function associated with significant increase of urinary PGE2 levels during the recovery period. Focal ATN was observed but no hemorrhagic lesion of the heart was found. From these observations we conclude the following: (1) high circulating NE and/or low renal (urinary) PGE2 activity are important in the pathogenesis of EPI-induced ARF, (2) the spleen may release some factor(s) that modulate plasma NE level and/or renal PGE2 activity during EPI infusion, (3) EPI-induced ARF may occur independently of myocardial necrosis, and (4) hematocrit has no major role in EPI-induced ARF.

Acute Kidney Injury↗
PubMed1982

Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features.

Muir-Torre syndrome patients have multiple internal malignancies along with cutaneous sebaceous proliferations and keratoacanthomas. We describe a 62-year-old male with nine primarily internal malignancies who survived eight years after his initial tumor was identified. His sebaceous lesions ranged from innocuous adenomas to an anaplastic carcinoma of the chin which recurred and spread locally to involve the mandible and the right parotid region.

Humans↗
PubMed1982

Acute tubular necrosis in hepatorenal syndrome: an electron microscopy study.

This report describes light and transmission electron microscopy (LM and EM, respectively) studies of kidneys from five cases of hepatorenal syndrome. The kidneys were removed and fixed for LM and EM between 30 and 120 min after death. All patients had progressive renal failure after admission to the hospital. All cases were jaundiced, had ascites, and exhibited features of hepatic encephalopathy. LM study revealed severe acute tubular lesions (ATL) or, more conventionally, acute tubular necrosis (ATN). EM study demonstrated necrosis of the proximal tubules characterized by swelling, disorganization of the cristae and appearance of dark bodies in the mitochondria, coalescence, fragmentation or displacement of the microvilli, loss of plasma membranes, rupture of the basement membranes, and separation of the cells from the basement membranes. Rupture of tubular basement membranes (tubulorrhexis) and mitochondrial dark bodies suggest an ATN due to ischemia or induced by vasoconstrictor substance(s). Glomerular lesions were infrequent (one in five) and therefore, do not seem to have contributed to renal failure. All cases terminally had extremely low urinary sodium (11 mEq/liter), high urinary potassium (50 mEq/liter), a remarkably low urinary sodium/potassium ratio (0.26, normal = 4.27), and a low urinary osmolality (less than 400 mOsm/kg). From this study we conclude that an ATN of variable severity may be associated with the hepatorenal syndrome. Since this ATN developed without preceding shock, sepsis, or hypotension it is possible that this ATN like that in ischemic acute renal failure may be due to reduced renal blood flow and intense cortical vasoconstriction which has been reported in hepatorenal syndrome. Finally, our data imply that low urinary sodium is consistent with this pathologic lesion in this clinical setting.

Acute Kidney Injury↗
PubMed1979

Adenocarcinoma of rete testis.

Adenocarcinoma of the rete testis is a rare tumor of the genital tract. An advanced case of adenocarcinoma thought to arise from the rete testis is presented. We believe this is the eighteenth reported case.

Adenocarcinoma, Papillary↗
PubMed1976

Macrocheilia due to lymphangiectasia.

A case of symmetrical, diffuse macrocheilia due to lymphangiectasia is presented. No primary cause for this case or for many other pathologic forms of macrocheilia has been established. Tranverse mucosal wedge resection of the lip with mucosal advancement, however, is a satisfactory method of treatment.

Adolescent↗