Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence

Our objective was to evaluate the long-term effects of dietary therapy of tyep I glycogen storage disease which avoids increased lactate production during childhood and adolescence. In order to suppress hepatic glucose and increased lactate production consistently day and night, the treatment regimen included nocturnal intragastric feeding of glucose polymer during childhood and adolescence. The aim was to keep the blood glucose concentration in the “high normal range” (4.3–5.5 mmol/l) and the lactate concentration in urine in the normal range (<0.06 mol/mol creatinine). The amounts of dietary carbohydrate required decreased in an age-related manner from 11.9±1.3 mg/kg body weight per min by day and 6.9±0.9 mg/kg body weight per min by night at 1 year of age to 5.2±1.0 and 2.9±1.2 mg/kg body weight per min, respectively, at the age of 16 years. In 15 infants, therapy started at 5.8±3.2 months of age and induced catch up growth over 1–2 years by which time the mean height SDS increased from −1.02±0.91 to −0.19±1.07. In the well controlled patients, further growth continued within that range. From 12 years of age, mean height SDS was in line with the respective mean SDS of mid-parental target height. The plasma lipid concentrations were markedly reduced, but were not brought into the normal range. So far, no adolescent showed liver adenoma or renal damage. Four patients with poor metabolic control due to poor compliance with treatment (frequently subnormal plasma glucose concentrations, severe hypoglycaemia, and increased urinary lactate excretion) showed retardation of growth and bone maturation.Conclusion: avoiding increased lactate production by keeping the blood glucose concentration permanently in the “high normal range” seems to be crucial for growth according to the genetic potential. Published online: 22 August 2002     

The role of radiation therapy in early endometrial cancer.

Few randomized studies have addressed the best choice of adjuvant radiation therapy after surgery for stage I endometrial cancer. Although whole pelvic radiation decreases the incidence of pelvic and vaginal cancer recurrence, there is no convincing evidence that it improves survival in women who have been completely staged. Several studies have indicated that women with high-risk stage I endometrial adenocarcinoma are treated adequately with extended surgical staging and vaginal cuff radiation. In the absence of randomized trials suggesting that whole pelvic radiation improves survival, it should be limited only to the highest risk stage I subgroups. Vaginal cuff brachytherapy appears to provide excellent local control of disease with minimal morbidity.     

Odd-numbered long-chain fatty acids in propionic acidaemia

In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1–8 years in five patients with early onset PA and present their clinical outcome. After extraction from erythrocyte membrane lipids and esterification, fatty acids were analysed by capillary column gas chromatography. The sum of the OLCFA 15- and 17- carbon saturated and 17-carbon monounsaturated fatty acids (C15:0, C17:0, C17:1) was calculated and expressed as a percentage of the total C14-C22 fatty acids in the sample. Three patients (pccBC-complementation group) presented with a stable clinical course and showed OLCFA values usually below 1.9% (median % ± SD: 1.4 ± 0.5, 1.6 ± 0.5, 1.8 ± 0.5). Two patients (pccA-complementation group) had a more severe course of the disease and showed higher medians and a broader range of OLCFA levels (2.2 ± 1.2 and 2.2 ± 0.8). Conclusion Our study shows that odd-numbered long-chain fatty acid concentrations are increased in patients with propionic acidaemia and are higher in those with a more severe clinical course. The value of odd-numbered long-chain fatty acids in the assessment of the phenotypic severity and in the management of propionic acidaemia remains to be proven in a prospective long-term study with more patients of differing phenotype. Received: 15 January 1999 and in revised forms: 18 February 1999, 4 May 1999, 21 June 1999 and 13 July 1999 / Accepted: 14 July 1999     

Maple syrup urine disease variant: Report on an infant

Clinical course and laboratory findings including enzymatic studies in leukocytes and cultured fibroblasts are reported in an infant with a variant form of maple-syrup urine disease.Presenting symptoms in the age of 7 months were coma, ataxia and gross developmental retardation. Therapy consisted of restricted leucine allowance according to the patients tolerance. With a protein-poor regimen the patient remained free of symptoms and his developmental age corresponded to his chronological age at the age of 18 months.

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Zusammenfassung Es wird über klinischen Verlauf sowie Laboruntersuchungen einschließlich Enzymassays in Leukocyten und Fibroblastenkulturen eines Patienten mit einer Variante der Ahornsirupkrankheit berichtet.Der Patient erkrankte erstmalig im Alter von 7 Monaten mit den Symptomen Coma, Ataxie und retardierter Entwicklung. Die Therapie bestand in einer entsprechend der individuellen Toleranz eingeschränkten Zufuhr von Leucin. Unter einer eiweißarmen Diät blieb er symptomfrei, und seine psychomotorische Entwicklung normalisierte sich zusehends.

     

Omeprazole 40 mg once a day is equally effective as lansoprazole 30 mg twice a day in symptom control of patients with gastro-oesophageal reflux disease (GERD) who are resistant to conventional-dose lansoprazole therapy-a prospective, randomized, multi-centre study

BACKGROUND: Comparative studies of omeprazole and lansoprazole are scarce and even scarcer are comparisons of higher doses. Most of the comparative studies have assessed the effect of the two proton pump inhibitors (PPIs) on gastric acid secretion or gastric pH. Few studies have compared clinical end-points such as oesophageal healing and symptom control. AIM: To determine the clinical efficacy of omeprazole 40 mg daily as compared to lansoprazole 30 mg twice a day in symptom control of patients with severe symptomatic GERD. METHODS: Ninety-six patients who failed a standard dose of lansoprazole (30 mg once daily), were enrolled in a prospective fashion from three VA medical centres and were randomized to receive 6 weeks of either omeprazole 40 mg daily or lansoprazole 30 mg twice daily. Patients reported daily on symptom severity and frequency, antacid consumption and side-effects. RESULTS: Forty-six patients received omeprazole and 44 lansoprazole. Although not statistically significant, there was a consistent trend of better symptom control in the omeprazole group for daytime and night-time heartburn and acid regurgitation. There was no statistical difference between the two groups in mean antacid consumption overall and at the end of each of the 6 weeks of the study. In addition, there was no significant difference in the overall frequency of side-effects between the two groups nor for each individual side-effect. CONCLUSION: Omeprazole 40 mg once daily is equally effective and tolerated as lansoprazole 30 mg twice daily in symptom control of patients with GERD.     

How Far Shall We Go in the Predonation Selection of Blood Donors to Safeguard Patients for Blood-Transfusion-Related Infections?: Editorial

American trypanosomiasis (Chagas' disease) can be transmitted by blood transfusion. For almost 40 years, this transmission has been limited to Latin America, but recently, three cases have been reported in the USA and Canada. With increasing emigration to North America and Europe, Chagas' disease may be introduced to the Northern hemisphere by transfusion of blood from carriers. This review will focus on the discovery, biology and antigenic profile of Trypanosoma cruzi (the aetiological agent of Chagas' disease), including the invertebrate vectors, animal reservoirs and transmission to humans, with special reference to blood transfusion. Finally, diagnostic tests and prophylactic measures for the prevention of Chagas' disease will be discussed.     

Transmission of herpes simplex during CPR training

Instruction in cardiopulmonary resuscitation (CPR) has become a standard part of training for medical personnel and is widely recommended for the lay public. We present a case report of two women, one of whom contracted herpes labialis and one of whom contracted ocular herpes simultaneously after participating as partners in a CPR training course. This case suggests that added precautions against the transmission of infectious disease should be taken by screening participants in CPR courses for signs of respiratory, oral, or facial cutaneous disease. In addition, this case underscores the crucial importance of adequately disinfecting mannequins between users and between training sessions. Specific recommendations are made.     

Adverse drug effects and the controlled clinical trial

Summary The controlled clinical triad is designed not to discover new drug effects, but to verify those effects, about which prior knowledge exists adequate for formulating exact null hypotheses. Therapeutic effects always meet this requirement. The question of a drug's clinical toxicity is essentially vague and open-ended and, therefore, ineligible for being fully answered by controlled trial. It can examine only those adverse drug effects which are predicted or anticipated, which occur with a certain frequency compatible with a practical trial size, and which do not pose ethical restrictions to human experimentation. Most toxic drug effects must be assessed empirically, i. e., by incompletely controlled observation or survey of events as they happen during ordinary drug use. This does not mean arbitrary collection of isolated data, but requires purposeful, systematic and coordinated procedures. Observational evidence is circumstantial and disputable from a strictly scientific viewpoint. Nevertheless, if observational data satisfy certain criteria, they contribute to decisions which are reasonable and practically useful by minimizing the risks for patients from adverse drug effects.