Congenital goiter and secondary hyperlipidemia.
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Biomedical subjects
Publications and source records attributed to H Mocan.
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Aicardi syndrome, which shows X-linked dominant inheritance, is characterized by corpus callosum agenesis, infantile spasms, chorioretinitis, chorioretinal lacunae, psychomotor retardation, microphthalmy, cerebral atrophy and vertebral abnormalities. A 3/12 year-old girl with Aicardi syndrome who has dilated right lateral ventricle and leucomalacy in the right frontal lobe on magnetic resonance imaging (MRI) is presented. As far as we know, this combination of symptoms was not described previously in the literature.
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A single 6-g dose of aluminum hydroxide was given to eight patients on regular hemodialysis before and 3 days after parathyroidectomy (PTX). Serum aluminum levels were measured before and after 5 h after ingestion of aluminum hydroxide to examine indirectly the effects on absorption of aluminum from the gastrointestinal tract of both high and low parathyroid hormone (PTH). Plasma PTH levels fell significantly from 2,724 +/- 1,830 ng/l (mean +/- 1 SD) before PTX to 352 +/- 63 ng/l after PTX. However, no significant change was detected in serum aluminum levels before or after PTX (1.45 +/- 0.96 to 1.92 +/- 0.88 mumol/l before PTX; 2.02 +/- 1.41 to 2.89 +/- 1.19 mol/l after). These findings indicate that in patients with chronic renal failure, high plasma levels of PTH are not associated with significant increases in serum aluminum concentrations after ingestion of a large quantity of aluminum hydroxide. Parathyroid hormone may not enhance intestinal absorption of aluminum in humans.
Sixteen children (11 male, 5 female) who developed renal venous thrombosis in the neonatal period or early infancy have been followed for periods varying from 29 months to 16 years (median 12 years) after initial diagnosis. Twelve patients presented with a hyperosmolar state, and in 4 the illness was preceded by severe birth asphyxia. The diagnosis was based on the findings of clinical and/or radiological renal enlargement (15 cases), haematuria (16 cases) and elevation in plasma urea (16 cases). Thrombocytopenia (13 cases), red cell fragmentation (13 cases) and oliguria (13 cases) were frequent associated findings. All 16 patients survived the acute illness, 1 patient died 3 years later from an unrelated event. On follow-up evaluation, 11 patients have normal renal function (glomerular filtration rate greater than 80 ml/min per 1.73 m2), 5 developed hypertension, 2 of whom responded to unilateral nephrectomy. Urinary concentrating capacity was subnormal (less than 800 mosmol/kg) in 7 of the 15 cases studied. Follow-up renal imaging studies were undertaken in 14 patients, and the imaging procedure was normal in only 2 of these. Of the remainder, 8 showed unilateral abnormality and 4 bilateral abnormality. Intellectual development was normal in 12 patients, mildly impaired in 1, and severely impaired in 3.
We report a congenital nasopharyngeal teratoma which presented as acute neonatal airway obstruction. After immediate orotracheal intubation, a pedunculated mass, which filled the nasopharyngeal and oropharyngeal cavities, was completely removed. Histological examination of the specimen revealed as a mature teratoma, composed of all three germ layers with recognizable early organ differentiation.
The incidence of neural tube defects (NTD) was 2.12 per 1000 births and that of anencephaly was 1.29 per 1000 births when we reviewed the 40,997 consecutive births between 1981 and 1986 in the major maternity hospital in the eastern Black Sea region of Turkey. There was a significant increase in the incidences of NTD and anencephaly after 1986 to 4.39 and 2.46 per 1000 births respectively (P less than 0.0001; P less than 0.005). Although this might be a coincidence, it may be due to the nuclear contamination of the region following the Chernobyl accident.
We searched the susceptibility of E. coli strains isolated from urine cultures of sick children with urinary tract infections to Nitrofurantoin, Co-trimoxazole, Gentamicin, Ampicillin and Amoxillin-Clavulonic acid. In our study, we compared the results of Farabi Hospital of Black Sea Technical University Medical Faculty, Hacettepe University Medical Faculty Children Hospital and Glasgow Royal Hospital for sick children and tried to show their regional and national differences for antibiotic susceptibility.
Visceral leishmaniasis is a disease, also called kala-azar, caused by species of Leishmania, which is known as intracellular parasite. Disease show a broad spectrum on the clinical symptoms. This infection is seen classically in Mediterranean countries, in same Asian countries between 30th-48th north parallels and in South America. In Mediterranean countries the parasite causing the visceral Leishmaniasis is Leishmania donovani. Turkey is also a Mediterranean country taking place between 36th-42nd north parallels.
Between 1985 and 1987 102 children, age 0-14 years, presented with a first acute symptomatic E. coli urinary tract infection. Investigations included early 99mtechnetium dimercaptosuccinic acid (DMSA) scan (which was performed at a median of 27 days), ultrasonography, micturating cysto-urethrography and indirect voiding radionuclide cystography using 99mTc DTPA. Follow-up DMSA scan was carried out after 6 months. Twenty-one of 102 of initial DMSA studies showed diminished uptake of radionuclide and 12 showed cortical scarring. Twenty-nine patients had significant vesicoureteral reflux (VUR). The finding of diminished uptake on the initial scan was significantly associated with fever, systemic upset, length of symptoms and a peripheral blood leucocytosis, (p less than 0.05). In addition the finding was associated with fever and loin pain in the older child. Both diminished uptake and scarring were more common in refluxing kidney units. We propose that, in children with UTI, diminished uptake on early DMSA scan localises infection in the renal parenchyma.
Between 1979 and 1985, six of 26 patients undergoing continuous ambulatory peritoneal dialysis developed fungal peritonitis. All had received antibacterial therapy with cefamandole and/or netilmicin prior to the diagnosis. The causal organisms were Candida albicans (three), Candida glabrata (one), Cryptococcus laurentii (one) and Saccharomyces cerevisiae (one). Treatment comprised catheter removal preceded by antifungal drugs (flucytosine and/or amphotericin B) in four patients and catheter removal alone in two. All patients were transferred to haemodialysis and five of the six developed extensive intra-abdominal adhesions. The most prudent management of fungal peritonitis in children would seem to be early cannula removal.
Over an 18-month period we encountered 12 episodes of Serratia marcescens bacteraemia in 10 patients in a paediatric oncology unit. These were associated with long-term indwelling Hickman intravenous catheters (right atrial) and caused three deaths. Seven of the patients had only mild pyrexial illnesses and made a complete recovery. The source was traced to contaminated aqueous chlorhexidine in a bedside container in which plastic clamps were stored. When this was rectified the outbreak ceased. The identity of the causal Serratia strains was confirmed by plasmid analysis and they showed multiple antibiotic resistance, including the aminoglycosides. The study illustrates the emergence of S. marcescens as an opportunistic pathogen and emphasises the dangers of Hickman-associated bacteraemia.
Between 1979 and 1985, 26 patients on continuous ambulatory peritoneal dialysis had 97 episodes of peritonitis. These occurred over a period of 336 patient months, giving an incidence of one episode every 3.5 patient months. The micro-organisms comprised Gram-positive and Gram-negative bacteria as well as fungi which accounted for six episodes. Gram-positive bacteria were isolated in 49 of the 97 episodes (50.5%) with Staphylococcus epidermidis predominating. The incidence of culture-negative peritonitis was high (27.8%). Because of failure to respond to treatment, or because of frequent recurrences, 42% patients were transferred to haemodialysis. The changing bacterial ecology has necessitated an alteration in choice of antibiotics. Cefamandole and/or gentamicin are no longer appropriate since 46% strains of S. epidermidis are now methicillin-resistant. Our 'best guess' choice for bacterial peritonitis would now start with netilmicin, vancomycin being added if indicated. For fungal peritonitis we would now start with a primary course of anti-fungal agents followed by early removal of the catheter if there is no response to treatment.
Over a six year period to 1985, 64 episodes of bacterial peritonitis in children on CAPD yielded 59 Gram-positive and 15 Gram-negative isolates. The former included 27 strains of Staphylococcus epidermidis (45.8%) and 24 Staph. aureus (40.7%). Staph. epidermidis is now the commonest cause of infection in these patients and like Staph. aureus is spread by leaks and disconnections. It is also more resistant to antibiotics than Staph. aureus and this causes problems in the choice of antibiotics with failure to control peritonitis and subsequent complications such as diminished efficacy of therapy, peritoneal adhesions, recourse to haemodialysis and superinfection with fungi. Both species showed 100% sensitivity to vancomycin, rifampicin and netilmicin. Other sensitivity figures for Staph. epidermidis were methicillin 52%, benzylpenicillin 15%, cefamandole 52%, cefotaxime 52%, amoxycillin-clavulanic acid 52%, gentamicin 63%, co-trimoxazole 48%, fusidic acid 59% and erythromycin 52%. Apart from benzylpenicillin (8%), Staph. aureus was much more sensitive, the figures being 96% for methicillin and 92-100% for the others. Our initial choice of 'best-guess' therapy early in the series was cefamandole with the addition of gentamicin or tobramycin for Gram-negatives. This is now inappropriate, based on relatively poor clinical results and increasing resistance to antibiotics, and we would now use vancomycin as first choice, with netilmicin added to cover Gram-negatives.