Investigation of mtDNA control region sequences in an Egyptian population sample

The sequences of mitochondrial DNA (mtDNA) control region were investigated in 101 unrelated individuals living in the northern region of Nile delta (Gharbia, N = 55 and Kafrelsheikh, N = 46). DNA was extracted from blood stained filter papers or buccal swabs. HV1, HV2 and HV3 were PCR amplified and sequenced; the resulted sequences were aligned and compared with revised Cambridge sequence (rCRS). The results revealed presence of total 93 different haplotypes, 86 of them are unique and 7 are shared haplotypes, the most common haplotype, was observed with a frequency, 2.97% of population sample. High mtDNA diversity was observed with genetic diversity and power of discrimination, 0.9982 and 0.9883, respectively. In this dataset the west Eurasian haplogroups predominated over the African haplogroups. The results would be useful for forensic examinations and human genetic studies.     

Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome

Hyper IgE syndrome (HIES) is characterized by recurrent skin abscesses, eczema, pneumonia, and high levels of serum IgE. Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. Somatic mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. In this report, we describe one patient with classical HIES and another patient with a mild phenotype, both harboring the same genetic mutation. The patient with a mild phenotype did not present the characteristic face, had normal production of IL‐17A by T CD4⁺ cells, but had low phosphorylation of STAT‐3 in B cells. Interestingly, the mutation found in B cells was absent in other cell types analyzed, in agreement with the presence of a somatic mosaic genotype. The clinical and functional differences observed between these patients justify the use of complementary tools for a better definition of the cases. These approaches allow for a better understanding of complex phenotypes associated with somatic mosaicisms, and present the possibility to analyze the role of B lymphocytes in the pathophysiology of this disease. This knowledge has an impact on not only the treatment but also the provision of appropriate genetic counseling.     

早期与延迟他汀治疗对急性缺血性卒中患者血清超敏C-反应蛋白及预后的影响

目的 探讨早期与延迟他汀治疗对急性缺血性卒中（AIS）患者血清超敏C-反应蛋白（hs-CRP）和预后的影响。方法 选择2016年10月至2018年1月安徽省立医院神经内科住院的AIS患者267例,采用随机数字表法分为早期他汀治疗组（n=134）与延迟他汀治疗组（n=133）。两组患者分别于发病24 h内和第7天开始接受他汀治疗。采用美国国立卫生研究院卒中量表评价入院时和发病第7天患者神经功能缺损情况;使用改良Rankin量表（mRS）评定第90天临床预后;通过胶乳增强免疫比浊法测定患者发病24 h内、第7天、第90天的hs-CRP水平。比较两组患者血清hs-CRP的变化、急性期神经功能的改善及90天预后良好比例,并分析延迟他汀治疗与预后不良的相关性。结果 早期他汀治疗组患者第7天hs-CRP水平较发病24 h内下降[（5.02±0.65）mg/L vs（6.45±0.59）mg/L],差异有统计学意义（P<0.05）。早期他汀治疗组患者90天mRS评分预后良好的比例高于延迟他汀治疗组[48.51%vs 36.09%],差异有统计学意义（P<0.05）。logstics回归分析显示,第7天hs-CRP水平、延迟治疗是预后不良的影响因素（P<0.05）。结论 早期他汀治疗可降低AIS患者急性期血清hs-CRP浓度,并可改善预后。     

Reduced dose of Bacillus Calmette-Guérin versus full dose of Bacillus Calmette-Guérin for non-muscle-invasive bladder cancer after transurethral resection bladder tumor: a meta-analysis of randomized controlled trials

Background Bladder cancer is widely known as the most common malignant tumor in the urinary tract,with 75％-85％ of patients suffering from nonmuscle invasive bladder cancer (NMIBC).However,the optimal d...     

Spatial Distribution of Head and Neck Cancer in Chiang Mai,Thailand

Background: The incidence of Head and neck (HN) cancers in Thailand is rising and survival rates not improving. Variations of its incidence among geographical areas may due to various contributing factors. Methods: We focused on data from 25 districts within Chiang Mai province, Thailand. The temporal change was described separately into two periods, 2007-2012 and 2013-2018. The OpenBUGS and the Quantum Geographic Information System were utilized to determine the geographical patterns in the incidence of HN cancer and focus on oropharynx. Results: The number of new cases of HN cancer was 1,186, of which 835 cases (70%) were male. Among those patients 548 diagnosed in 2007-2012 and 638 diagnose in 2013-2018. High risk patterns of both overall HN and oropharyngeal cancer incidences were found in the central and southern areas of the province in 2007-2013. However, the geographical patterns of the incidence of oropharyngeal cancer showed the changed pattern, with high RR in central and northern areas in more recent period. Over two periods, the RR of the cancers incidence decrease. The RR of oropharyngeal increased in Fang district and it remained high in Mueang district. Conclusion: This study have highlighted specific areas with a high risk of head and neck cancer and oropharyngeal cancer incidences in Chiang Mai province, along with the spatial inequalities in their distributions, with cluster formation. These results may be helpful in guiding any strategy put in place to respond to the high risk incidence of the cancers in specific areas.     

Manual Lymphatic Drainage for Upper Limb Lymphedema: A Clinician’s Perspective for its Adaptation<br/>Adapter le Drainage Lymphatique Manuel pour le Lymphœdème du Membre Supérieur: Point de vue de Cliniciens

Upper limb lympedema is a frequent consequence of breast cancer treatment. The International Society of Lymphology recommends physical therapy for lymphedema management. This treatment includes a combination of manual lymphatic drainage and high-compression bandaging. Actually, the effectiveness of manual lymphatic drainage remains an area of controversy, especially because of the many different techniques called “manual lymphatic drainage” since 1930. The purpose of this review was to emphasise the efficacy of these different techniques according to physiological data and evidence-based practice. To improve the manual lymphatic drainage efficiency, the pressure, sometimes important, should be tailored to each edema and the techniques had to consider altered lymphatic drainage patterns. The methods used by physical therapist in the studies should be specified for higher lightness.

Résumé
Le lymphœdème du membre supérieur est une séquelle du traitement des cancers du sein. Le traitement physique des lymphœdèmes est recommandé par la Société internationale de lymphologie. Il associe drainage lymphatique manuel et bandages de décongestion. Le drainage lymphatique manuel a fait l’objet de critiques quant à son effi- cacité. Or depuis son invention dans les années 1930, de très nombreuses techniques s’intitulent « drainage lymphatique manuel ». Les auteurs distinguent l’efficacité de ces différentes techniques en fonction des données de la physiologie lymphatique et de la démonstration de ses effets basée sur les faits. Pour améliorer son efficacité, le drainage lymphatique manuel doit être appliqué sur l’œdème avec une pression adaptée à la consistance de l’œdème, parfois élevée. Les manœuvres doivent prendre en considération les trajets remaniés des collecteurs lymphatiques. Les études qui l’utilisent doivent décrire la technique utilisée.     

恶性黑棘皮病并发Leser-Trélat征1例

患者男,72岁。全身褶皱部、乳晕肥厚、色素沉着3个月,周身泛发性丘疹伴剧痒2个月。皮肤科情况:颈部、腋窝、腹股沟、肛周皮肤肥厚、色素沉着,呈绒毛状或乳头瘤样增生,双侧乳头和乳晕角化、色素沉着,颈部、躯干及四肢散在米粒至黄豆大肤色至淡褐色角化性丘疹及斑丘疹。皮损组织病理示(上胸部):表皮角化过度,棘层肥厚,乳头瘤样增生,基底层色素增加;(右侧腹股沟):表皮中度角化过度,乳头瘤样增生,乳头似指样向上凸出,棘层中度肥厚,基底层色素增加,真皮浅层少许淋巴细胞浸润。诊断:恶性黑棘皮病并发Leser-Trélat征。     

Hyper-reactive malarial splenomegaly: Rare cause of pyrexia of unknown origin

Hyper-reactive malarial splenomegaly (HMS) or Tropical splenomegaly syndrome (TSS), occurs in areas of high transmission of malaria. These children usually presents with gross splenomegaly and abdominal discomfort, while fever is not the usual manifestation in majority of them. It is a disease of young adults and rarely reported below 8 years of age. Here it is reported a three-year-old child who presented as pyrexia of unknown origin with hepatosplenomegaly, diagnosed as HMS.     

Congenital patent ductus venosus: an association with the hyper IgE syndrome

We describe an association between congenital patent ductus venosus and hyper immunoglobulin E syndrome in a pair of siblings. The possibility that this is a separate entity or a genetically linked association is discussed.