Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.     

Shaping of curved root canals instrumented with stainless steel and nickel titanium files

The cleaning efficiency and the quality of the surgical preparation is mainly conditioned by root canal anatomy, the instruments and the technique employed. The purpose of the present study was to evaluate the extent of straightening of curved root canals and the changes in endodontic anatomy caused by the use of Flex-R, Onyx-R and Nitiflex files with the balanced forces technique. Sixty mandibular molars were selected for evaluation of angulation and transportation. Pre and post instrumentation radiographs were taken of the mesiodistal and buccolingual aspects of each tooth. The radiographs were projected on a transparent sheet, the contours of each tooth and file were outlined and the canal curvature was measured. Pre and post instrumentation tracings were overlaid and the extent of transportation was measured with a micrometric caliper. Statistical analysis of the data was performed employing Student's "t" test, Analysis of Variance and Bonferroni's test. The results showed that all the instruments reduced canal curvature significantly. Transportation in the mesiodistal direction did not reach statistical significance whereas transportation in the buccolingual direction was statistically significant.     

外周血VEGF表达水平与舌癌颈淋巴结转移关系的临床研究

目的 :探讨外周血VEGF表达水平与舌癌转移之间的关系以及临床意义。方法 :对舌癌患者外周血VEGF的表达水平进行ELISA检测 ,并对患者术后所有颈部淋巴结进行HE染色。结果 :转移组患者血清VEGF浓度为 ( 5 0 8.2 8± 14 .193 3 ) pg/ml ,无转移组患者血清VEGF浓度为 ( 13 0 .49± 6.2 5 41) pg/ml ,二者存在显著差异 (P <0 .0 1)。转移组患者术后血清VEGF浓度显著下降 ,为 ( 14 1.79± 5 .2 2 41) pg/ml,与术前存在显著差异 (P <0 .0 1)。结论 :舌癌患者血清VEGF浓度与颈淋巴结转移的发生有显著相关性 ,可以作为颈淋巴结转移的预测指标之一     

Influences of Gender on Complication Rate and Outcome after Roux-en-Y Gastric Bypass: Data Analysis of More Than 10,000 Operations from the German Bariatric Surgery Registry

Background

Since 1 January 2005, bariatric surgery has been monitored in Germany. All related data are registered prospectively in cooperation with the Institute of Quality Assurance in Surgery at the Otto-von-Guericke University Magdeburg.

Methods

Data collection regarding obesity and metabolic surgery was started in an online database in 2005. Follow-up data are collected once a year. Participation in the quality assurance study is voluntary.

Results

Since 2005, 10,330 Roux-en-Y gastric bypass (RYGB) procedures have been performed in Germany. In total, 8,013 patients were female and 2,317 were male. Male patients suffered significantly more comorbidities than female patients. The men also had higher body mass indexes (BMIs) and ages than the women at the time of operation. Data on the gender-specific aspects of RYGB from the Nationwide Survey of Bariatric Surgery in Germany (GBSR) showed a significant difference in anastomotic insufficiency at the gastro-entero-anastomosis. The leakage rate was 2.37 % (55/2,317) in men and 1.68 % (135/8,013) in women. Additionally, specific complication and mortality rates were significantly higher in male than in female patients.

Conclusions

Metabolic and obesity surgery is becoming increasingly popular in Germany. Data from the GBSR show significant differences in preoperative comorbidities and postoperative complication and mortality rates between male and female patients. There is a need for further evaluation of gender-specific aspects to optimize patient selection and reduce specific postoperative complications.     

Subcutaneous immunoglobulin in CIDP and MMN: a short-term nationwide study

This multi-center Italian prospective observational study reports the 4 months follow-up data of 87 patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN) shifted from intravenous to subcutaneous immunoglobulin treatment. A therapeutic shift from intravenous to subcutaneous immunoglobulin was performed in 87 patients (66 CIDP; 21 MMN) affected by immune-mediated peripheral neuropathies with evidence of a sustained clinical response to intravenous immunoglobulin. Patients were evaluated by means of the Overall Neuropathy Limitation Scale, Medical Research Council Scale and Life Quality Index questionnaire, both at the time of therapeutic shift and after 4 months of subcutaneous immunoglobulin treatment. A sustained clinical efficacy was observed after the switch to subcutaneous immunoglobulin: the Overall Neuropathy Limitation Scale score improved in the group of 66 CIDP patients (P = 0.018), with only one subject reporting a worsening of 1 point, and remained stable in the group of 21 MMN patients (P = 0.841), with one subject reporting a worsening of two points. An improvement in the patient’s perception of therapeutic setting was reported in both groups. This large multi-center study confirms the short-term clinical equivalence of subcutaneous versus intravenous immunoglobulin and a possible improvement in the patient’s perception of therapeutic setting with the subcutaneous administration. However, further studies are required to extend the results to a longer observational period.