Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie

The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.     

Field 2. Epidemiology (medical errors and patient adverse events). French-speaking Society of Intensive Care. French Society of Anesthesia and Resuscitation

Iatrogenic pathology is currently a serious problem. Intensive care units (ICU) are wards with a high risk of occurrence of adverse events (AE) related to the care and medical errors. The incidence of AE in ICU varies from 3 to 31% according to the publications. These variations are mainly due to the methodology of data collection. The latter is essential. The indicators must be standardized (consensual definitions), and easily collected. The method of collection must be ideally prospective, nonpunitive, confidential, independent within a compliant team, and realized with the participation of various actors not only of the unit but also external (biologists, pharmacists). The risk factors of AE in ICU are known: old age and high severity scores at admission, with medical and nurse workload more important. AE are associated with an increased patients' morbidity in ICU with no evident causality. The over cost related to AE in ICU was quantified to 3961 dollars in the United States. The mortality of patients with an AE is higher but no study showed to date that AE constituted an independent risk factor of mortality in ICU. Some AE are preventable (from 28 to 84% according to studies). Therefore, the implementation of procedures of security (PS) is capital. Many methods often easy to implement exist such as in care, structural and managerial procedures. The development of a safety culture in hospitals and other delivery care settings is essential. It is the first essential step in a better comprehension of the health care professionals and the public opinion.     

Iatrogenic gas embolism after the use of hydrogen peroxide

We report a case of severe oxygen embolism after wound irrigation under pressure with hydrogen peroxide into a closed or partially closed cavity. The accident was observed during a surgical dressing of a large pelvis gangrene area, after a 250 ml injection of hydrogen peroxide. Suddenly occurred a decrease in PETCO(2) and SpO(2), and then heart arrhythmia. Symptomatic treatment initiated immediately restored SpO(2) and heart rhythm within a few minutes and the patient was then treated with hyperbaric oxygen therapy. The patient recovered without cardiac or neurologic sequelae. The release of gaseous oxygen under the effect of tissue catalase and the vascular diffusion of this oxygen bubbles can explain such complication. Injection of large volume of hydrogen peroxide into a closed or partially closed cavity and/or under pressure injection must be prohibited.     

Discovery and crystallographic structure of human apolipoprotein

We report the serendipitous discovery of a human plasma phosphate binding protein (HPBP). This 38 kDa protein is co-purified with paraoxonase (PON1). The association between HPON1 and HPBP is modulated by phosphate and calcium concentrations. The HPBP X-ray structure solved at 1.9 A resolution is similar to the prokaryotic phosphate solute-binding proteins (SBPs) associated with ATP binding cassette transmembrane transporters, though phosphate-SBPs have never been characterized or predicted from nucleic acid databases in eukaryotes. However, HPBP belongs to the family of ubiquitous eukaryotic proteins named DING, meaning that phosphate-SBPs are also widespread in eukaryotes. The absence of complete genes for eukaryotic phosphate-SBP from databases is intriguing, but the astonishing 90% sequence conservation of genes between evolutionary distant species suggests that the corresponding proteins play an important function. HPBP is the first identified transporter capable of binding phosphate ions in human plasma. Thus it is thought to become a new predictor and a potential therapeutic agent for phosphate-related diseases such as atherosclerosis.     

The interleukin-1 family gene polymorphisms and Graves’ disease

Genetic factors, including cytokine gene polymorphisms, are potential contributors to the pathogenesis of the Graves’ disease (GD). We attempted in this study to determine the association between GD and the following polymorphisms in the interleukin-1 (IL-1) family genes: IL-1α (−889C/T), IL-1ß (−511C/T), IL-1ß (+3962C/T), IL-1R (Pst-1 1970C/T) and IL-1RA (Mspa-I 11100 C/T). We studied 107 patients with an established diagnosis of GD and 140 healthy controls. Cytokine typing was performed by the polymerase chain reaction with sequence-specific primers assay. Genotype distributions among patients were in Hardy-Weinberg equilibrium for all polymorphisms. The frequency of the IL-1α −889T allele was significantly higher in patients than in controls (51.9% vs. 31.6%, OR = 2.33, 95% CI = 1.61-3.38; p < 0.0001). The IL-1RA Msp-I 11100C allele was significantly more frequent in patients than in controls (50.0% vs. 22.9%, OR = 3.38, 95% CI = 2.29-4.97, p < 0.0001). No significant associations were found for other polymorphisms. Although the IL-1 family has well-known roles in GD pathogenesis, the contributions of their genetic variations to the disease are unclear. In this study, we documented a highly significant association between GD and polymorphism in IL-1α and IL-1RA genes. Further studies in other populations are necessary to confirm our results.     

Discovering the elusive Beauchêne: the originator of the disarticulated anatomic technique

The identity of the Beauchêne bearing the name of the widely used disarticulated anatomic technique has remained elusive over the years. This article traces the skull technique to its originator, Edmé François Chauvot de Beauchêne (ca. 1780–1830), an anatomist and surgeon. In addition to pioneering this innovative anatomic preparation, Edmé François reported the first known case of an intraneural cyst in 1810 and pulmonary air embolism in 1818. The credit has been incorrectly attributed to Claude Beauchêne, an imaginary anatomist in Paris in the 1850s, or to his famous father, Edmé Pierre Chauvot de Beauchêne (1749–1825), a psychologist and physician. The significant accomplishments of Edmé François Chauvot de Beauchêne (Beauchêne fils or Beauchêne son) in medicine have been overshadowed by those of his distinguished father and should be fully recognized. Clin. Anat. 24:797–801, 2011. © 2011 Wiley‐Liss, Inc.     

益血胶囊质量标准研究

目的：为了控制益血胶囊产品质量，建立了鹿街草、丹参、万丈深的质控标准。方法：采用薄层色谱法对益血胶囊中鹿街草、丹参、万丈深进行了定性鉴别；并用薄层扫描法对丹参中丹参酮ⅡA进行含量测定。结果：丹参酮ⅡA含量测定线性范围0．5－2．5μg，平均回收率97．90％，RSD为1．16％。结论：方法专属、灵敏、重现性好。可为该制剂的质量控制提供科学依据。