Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter

A derivative chromosome 8 was observed in a newborn boy who presented with low birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was further characterized at age 18 months by a high resolution G-banding analysis, spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple DNA probes. The karyotype was described as 46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an inverted duplication of region 8p21.3-->p23.3 and a duplication of region 8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. Different from previously reported patients with an inverted duplication (8p), no deletion was detected in the distal region of 8p in this case. This young child had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation. These features are compared with those commonly seen in cases with an inverted duplication of 8p and cases with a partial trisomy of 8q.     

Age Differences in Work-Disability Duration Across Canada: Examining Variations by Follow-Up Time and Context

Journal of Occupational Rehabilitation - Purpose This study aimed to understand age differences in wage-replacement duration by focusing on variations in the relationship across different periods...     

ASO Author Reflections: National Analysis of Breast Surgery Malpractice Cases: A Teachable Moment?

Annals of Surgical Oncology -     

Cr Migration Potential and Species Properties in the Soil Profile from a Chromate Production Site in the Groundwater Depression Cone Area

The relationship between the migration process and speciation distribution of Cr is important for the risk assessment in the underground environment. In this work, soil columns were collected from the chromate production site, with a 40-year operation, in the groundwater depression cone area of North China plain. The relationship between chromium pollution features and the geochemical properties of soil was established, and the migration risk of Cr(VI) was assessed based on the Nemerow composite index and Hydrus-1D model. The maximum total Cr concentration in the chromium slag dumping site reached 907 mg/kg, and that in the chromate production workshop was more than 200 mg/kg across the depth. The migration of Cr might be accelerated in the soil with abundant Mn (236–1461 mg/kg) but scarce organic matters (<?0.45%). The Hydrus simulation indicated that Cr(VI) would reach a cumulative flux of 300–729 mg/cm² after 50 years.

     

Role of exercise treadmill in diagnosing hypertension

Using exercise treadmill testing (ETT), the authors undertook an evaluation of a patient who remained normotensive following termination of two-drug antihypertensive therapy. The hypertensive treadmill results suggest incomplete resolution of the hypertensive state and a potential role of the ETT in adding precision to the diagnosis of hypertension and monitoring control.     

造血干/祖细胞的体外扩增培养研究

利用旋转壁式生物反应器(Rotating wall vessel,RWV)体外培养脐带血干细胞,使其大量扩增,以满足临床应用对造血干/祖细胞的数量与质量要求。从脐带血分离得到的单个核细胞(Mononuclear cells,MNC)在T-flask中培养24h,之后接种到RWV反应器中,培养200h。每24h细胞计数,测量培养基的pH和渗透压变化;在144h和197h测CD34 细胞含量并做CFU-GM半固体培养。有核细胞(Nucleated cells,NC)与CD34 细胞在第197h,分别扩增了435.5±87.6倍和32.7±15.6倍,CFU-GM(Colony-forming unit-granulocyte/macrophage)细胞扩增了21.7±4.9倍。整个培养过程中,RWV反应器中的pH和渗透压都保持在造血细胞最佳的扩增条件内,pH基本保持在7.2~7.4之间,渗透压基本保持在290~310mmol/kg之间。由于旋转壁式生物反应器(RWV)结构上的特殊性,可以保证细胞在悬浮流动的状态下生长,很好地模拟了脐带中的造血微环境,使脐带血造血干细胞在该反应器中短期内得到大量扩增。     

妊娠合并多诱因顽固性代谢性酸中毒1例报道

<正>1病例介绍1.1基本情况患者,女,39岁,因“发热、畏寒2 d,气促、心悸、下腹胀痛3 h”入院,G5P3 28+3周孕,既往有糖尿病病史2年,予口服二甲双胍,孕前4个月予皮下注射胰岛素（早、晚餐前20 U）。有剖宫产手术史,21年前顺产一活男婴（体健）;12年前剖宫产一活女婴（体健）;自然流产1次,难免流产1次。末次月经2021年5月28日,本次外院彩超示“宫内早孕”。