Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy

Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes. We report a Portuguese patient with a very late-onset LGMD phenotype, whose muscle biopsy and immunostaining, in particular for α-sarcoglycan, were unrevealing. Muscle MRI showed a predominant, bilateral and symmetric involvement of the tight muscles and also, to a lesser extent, of the posterior compartment of lower legs muscles. Next generation sequencing (NGS) revealed a known homozygous c.850C > T (p.Arg284Cys) mutation in SGCA gene. Milder forms of α-sarcoglycanopathies could be a challenging diagnosis; particularly if muscle histopathology and α-sarcoglycan immunohistochemistry are unhelpful. NGS plays a crucial role not only for aiding in the establishment of a definite diagnosis, but also for expanding clinical presentations.     

Nutraceuticals use and type 2 diabetes mellitus

Type 2 diabetes mellitus (T2DM) is a complicated metabolic disease and has become one of the significant medical problems worldwide. Researchers aim to provide fine-tuned treatment for T2DM with minimal exposed side effects. Nutraceuticals are compounds or materials and emerging evidence suggests that the use of nutraceuticals has recently been recognized as a promising option for the prevention and management of T2DM, such as probiotics and prebiotics, Vitamin D, n-3 long-chain polyunsaturated fatty acids, and Plant-derived nutraceuticals. This review attempts to show the most popular nutraceuticals and review their effects and possible mechanisms in the prevention or glycemic control of T2DM.     

重楼皂苷D对人胰腺癌细胞增殖和凋亡的影响

重楼皂苷D(polyphyllin D)是重楼中的一种甾体皂苷单体,具有抗菌、镇痛、镇静、抗肿瘤等多种药理作用,但在胰腺癌中少有报道。该研究通过检测凋亡相关指标,探讨polyphyllin D对人胰腺癌Panc-1细胞增殖和凋亡的影响及相关作用机制。采用CCK-8法检测不同浓度的(0,1,2,3,4,5μg·μL-1)polyphyllin D分别处理胰腺癌Panc-1细胞24,48,72 h后,观察对细胞增殖的影响。采用流式细胞术对细胞周期、细胞线粒体膜电位(mitochondrial membrane protential,MMP)进行检测,Annexin-V-FITC/PI双染法检测细胞凋亡情况,Western blot法检测细胞色素C (cytochrome C,Cyto C),Bax,Bcl-2,cleaved caspase-3,cleaved caspase-9的蛋白表达情况。结果表明,与对照组相比,polyphyllin D能够时间和浓度依赖性地抑制Panc-1细胞的增殖活性。流式细胞术检测显示polyphyllin D能浓度依赖性使细胞阻滞于S期和G2/M期,MMP明显降低,细胞凋亡率随polyphyllin D作用浓度增加而增加。Western blot结果显示,polyphyllin D能浓度依赖性地上调Bax,Cyto C,cleaved caspase-3和cleaved caspase-9的蛋白表达水平,下调Bcl-2的蛋白表达水平。以上研究结果提示,polyphyllin D能抑制胰腺癌Panc-1细胞的增殖,其机制可能与阻滞细胞的生长周期以及通过线粒体途径诱导细胞的凋亡相关。     

Evaluation of renal markers of T1D in Sprague‐Dawley exposed to 2‐aminoanthracene

The incidence of type 1 diabetes (T1D) and its associated risks of chronic kidney disease or end‐stage renal disease development are on the rise. T1D is an autoimmune disease in which insulin‐producing beta cells are destroyed. Increased incidence of T1D has been suggested to be a result of environmental factors such as exposure to polycyclic aromatic hydrocarbons (PAHs). 2‐aminoanthracene (2AA) is a PAH that has been associated with the onset of early diabetic symptoms. This study was conducted to assess if 2AA dietary ingestion would induce T1D renal injuries. To accomplish study goals, Sprague‐Dawley rats were assigned into three 2AA dietary (0, 50, and 100 mg/kg‐2AA) ingestion groups for 12 weeks. Animals were evaluated for various morphometric indices, clinical markers, and gene expression. The rats in the 100 mg/kg group lost 5% less weight than the other treatment groups and converted roughly 3% more of their food intake into body mass. Renal histopathology indicated no significant difference between groups. The kidney weight per bodyweight of the 100 mg/kg treatment group was 30.1% greater than the control group. Creatinine concentration of the 100 mg/kg group was 46.2% greater than the control group. Serum glucose levels were significantly elevated in rats exposed to 2AA. On the contrary, serum albumin concentration was significantly reduced in 2AA‐treated rats. T1D and genetic markers of renal injury such as FABP1, SPP1, IL‐1B, and IL‐7 were elevated in treated groups. These results suggest that 2AA may induce the early diabetic renal injuries.     

曾学文运用经方治疗心系疾病

炙甘草汤、四逆汤、四逆散、真武汤、枳实薤白桂枝汤、葶苈大枣泻肺汤、小青龙汤出自张仲景的《伤寒论》及《金匮要略》,为曾学文治疗心系疾病的常用方。曾学文主任认为其理法方药,阐述了张仲景心系疾病辨证论治的理论和方法,心系疾病发病多因本虚标实,病位在心,"心动则五脏皆摇",可牵及肺、脾、肝、肾,本虚多以心气、心阳不足为主,可累及心阴,标实多以寒邪、痰饮、水湿、血瘀为主,"气、血、水"乃心脏疾病三步曲。     

Effect of vitamin D on musculoskeletal pain and headache: A randomized,double-blind,placebo-controlled trial among adult ethnic minorities in Norway

Immigrants from South Asia, the Middle East, and Africa living in Northern Europe frequently have low vitamin D levels and more pain compared to the native Western population. The aim of this study was to examine whether daily vitamin D₃ (25 μg/d or 10 μg/d) supplementation for 16 weeks would improve musculoskeletal pain or headache compared to placebo. This randomized, double-blind, placebo-controlled, parallel-group trial recruited 251 participants aged 18 to 50 years, and 215 (86%) attended the follow-up visit. The pain measures were occurrence, anatomical localization, and degree of musculoskeletal pain, as measured by visual analogue scale (VAS) score during the past 2 weeks. Headache was measured with VAS and the Headache Impact Test (HIT-6) questionnaire. At baseline, females reported more pain sites (4.7) than males (3.4), and only 7% reported no pain in the past 2 weeks. During the past 4 weeks, 63% reported headache with a high mean HIT-6 score of 60 (SD 7). At follow-up, vitamin D level, measured as serum 25(OH)D₃, increased from 27 nmol/L to 52 nmol/L and from 27 nmol/L to 43 nmol/L in the 25-μg and 10-μg supplementation groups, respectively, whereas serum 25(OH)D₃ did not change in the placebo group. Pain scores and headache scores were improved at follow-up compared with baseline. The use of vitamin D supplements, however, showed no significant effect on the occurrence, anatomical localization, and degree of pain or headache compared to placebo.