Electrophysiologic evaluation of Emery-Dreifuss muscular dystrophy. A single fiber and quantitative EMG study

A 16-year-old boy, the only affected member of the family, noticed early onset contracture of the elbows, and developed slowly progressive humeroperoneal weakness and atrophy, and bilateral equinus. The severe restriction of the forward flexion of the neck and thoracolumbar spine, resembled a rigid spine syndrome. An electrocardiogram showed atrioventricular conduction abnormalities. Muscle biopsy was consistent with mild myopathy. The overall conventional findings of a detailed electromyographic study in the limbs and erector trunci muscles, as well as the results of conduction velocity, automatic analysis of the voluntary pattern and single fiber electromyography studies were consistent with myopathy, although some atypical findings were found. The controversy about neurogenic and myopathic features in Emery-Dreifuss disease is discussed. The unspecific value of the flexion limitation of the spine, and the uncertain nosological position of the rigid spine syndrome are also commented.     

Selective hypersensitivity to boiled razor shell.

Many types of seafood require cooking before ingestion and it has been demonstrated that this cooking process may affect the antigenicity and allergenicity of the food. We describe a case of anaphylaxis caused by selective sensitization to razor shell, a mollusc. In vivo and in vitro studies confirmed sensitization to boiled razor shell. Analysis of the nature of the allergen yielded results that were consistent with the findings of other authors and suggested that allergens involved in seafood allergy are commonly high molecular weight proteins that, in most cases, are heat stable.     

Über die Entstehung und die Bedeutung der Bogenförmigen ST-Strecke,Sowie der Sog. Zwischenzacke und Ihren Zusammenhang mit der S-Achse

Zusammenfassung Die bogenförmige ST-Strecke kommt häufig, in etwa 12%der Fälle, und die Zwischenzacke selten, in 5der Fälle eines nichtausgewählten Krankenmaterials, vor. Sowohl die Entstehungsursache der bogenförmigen ST-Strecke als der Kischschen Zwischenzacke liegt in der stärkeren oder schwächeren Rechts- oder Linksdeviation der S-Achse. Die Richtung und der Grad der S-Achsendeviation wird es also bestimmen, in wie vielen und welcher Einthovenschen Ableitung die bogenförmige ST-Strecke bzw. die Zwischenzacke notwendigerweise auftreten muß. Bei S-Achsenstellungen zwischen –90°und –30°wird die ST-Strecke in Ableitung I, bei S-Achsenstellungen zwischen –30°und +30°in der I. und II., zwischen +30°und +90°in der I., II., III., zwischen +90°und +150°in der II., III. und bei den Achsenstellungen zwischen +150°und –150°in der III. Einthovenschen Ableitung bogenförmig sein. Die klinische Bedeutung der bogenförmigen ST-Strecke ist gleich mit der klinischen Bedeutung der S-Achsendeviation. Bei dem Vergleich des Herzbefundes der Kranken mit der elektrischen S-Achsenstellung können folgende Feststellungen gemacht werden: Geringergradige Linksdeviation der S-Achse, d. h. bogenförmiges ST _I sowie geringergradige Rechtsdeviation der S-Achse, d. h. ST_III kann praktisch bei pathologischem Herzbefund nicht verwertet werden. Stärkere Links- bzw. Rechtsdeviation der S-Achse, d. h. ST_I und_II bzw. ST_II und_III können im allgemeinen ebenfalls nicht verwertet werden, es ist jedoch wahrscheinlich, daß sie schon einen Übergang zu den pathologischen Befunden bilden. Während jene starken S-Achsendeviationen, wo schon in allen drei Ableitungen bogenförmiges ST besteht, meistens für das Zeichen der myokardialen Läsion betrachtet werden sollen, und zwar in erster Linie dann, wenn die positive S-Zacke in oder neben dem absteigenden Schenkel der R-Zacke gut wahrnehmbar ist.     

Adipose tissue and liver lipid metabolism in obese children: role of the body mass index and the presence of acanthosis nigricans.

AIMS: The aims of our study were to determine if insulin resistance is associated with increased plasma levels of non-esterified fatty acids (NEFA), glycerol, 3-hydroxybutyrate and triglycerides in obese children. We also studied whether the presence of acanthosis nigricans (AN) led to further alterations in the above parameters. METHODS: A total of 101 children were studied on their first visit to the paediatric endocrine clinic. Seventy-four were obese, 30 of them with AN. The remaining 27 were non-obese healthy children (control group). NEFAs, glycerol, triglycerides, 3-hydroxybutyrate, insulin, leptin, adiponectin and glucose were determined in blood samples obtained after overnight fasting. The insulin resistance index (IRI) was calculated following the homeostasis model assessment (HOMA). Data from the three groups were compared using appropriate statistical tests. RESULTS: No differences in age, sex ratio and pubertal stage were observed among the three groups. The group of children with the highest body mass index (BMI) showed higher plasma levels of insulin and leptin, higher IRI and lower plasma levels of adiponectin. As insulin and IRI increased, NEFA and 3-hydroxybutyrate decreased and triglycerides increased. When obese children were categorized by BMI, the presence of AN further exacerbated these differences. CONCLUSIONS: In obese children, insulin resistance is associated with plasma lipid alterations suggestive of both decreased adipose tissue lipolysis and hepatic beta-oxidation and increased hepatic synthesis of triglycerides. Such a metabolic condition may facilitate fat storage and hinder weight loss.     

Clinical outcome after D1 vs D2-3 gastrectomy for treatment of gastric cancer.

BACKGROUND: Clinical benefit from extended lymphadenectomy for gastric cancer remains controversial as a considerable variation exists between results of different studies. METHODS: 562 patients were treated at HUCH between 1987-2003, whereof 223 underwent gastrectomy with curative intent. Of these, 114 patients underwent subtotal/total gastrectomy with D1 (standard) lymphadenectomy and 109 patients had D2-3 (extended) lymph node dissection. The clinical outcome of these patients was analysed retrospectively. RESULTS: The incidence of surgical complications was 33.0% in D2-3 and 16.8% in D1 lymphadenectomy groups (p = 0.008). Abscess was the most common complication (11.0%) among D2-3 operated patients and haemorrhage (4.4%) in D1 group. Hospital mortality was 3.7% in D2-3 and 1.8% in D1 group (p = 0.438). The only statistically significant factor influencing the rate of complications was D2-3 lymphadenectomy (OR 2.620, 95% C.I. 1.375 to 4.991). D2-3 was associated with a longer postoperative hospital stay and operation time, greater blood loss and increased need for blood transfusions compared to D1. The 5-year survival was not statistically different between lymphadenectomy groups. CONCLUSION: It is justified to perform a D2-3 gastrectomy in Europe with a acceptable postoperative mortality but with a significant morbidity. Further studies are needed to assess the value of extended lymphadenectomy in gastric cancer.