The case for allele‐specific recognition by the TCR

There is a sharp difference in how one views TCR structure–function–behaviour dependent on whether its recognition of major histocompatibility complex‐encoded restriction elements (R) is germline selected or somatically generated. The generally accepted or Standard model is built on the assumption that recognition of R is by the V regions of the αβ TCR, which is not driven by allele specificity, whereas the competing model posits that recognition of R is allele‐specific. The establishing of allele‐specific recognition of R by the TCR would rule out the Standard model and clear the road to a consideration of a competing construct, the Tritope model. Here, the case for allele‐specific recognition (germline selected) is detailed making it obvious that the Standard model is untenable.     

Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.     

South African abortion attitudes from 2007-2016: the roles of religiosity and attitudes toward sexuality and gender equality

ABSTRACT

Abortion is legal in South Africa, but negative abortion attitudes remain common and are poorly understood. We used nationally representative South African Social Attitudes Survey data to analyze abortion attitudes in the case of fetal anomaly and in the case of poverty from 2007 to 2016 (n = 20,711; ages = 16+). We measured correlations between abortion attitudes and these important predictors: religiosity, attitudes about premarital sex, attitudes about preferential hiring and promotion of women, and attitudes toward family gender roles. Abortion acceptability for poverty increased over time (b = 0.05, p < .001), but not for fetal anomaly (b = ?0.008, p = .284). Highly religious South Africans reported lower abortion acceptability in both cases (Odds Ratio (OR)_anomaly = 0.85, p = .015; OR_poverty = 0.84, p = .02). Premarital sex acceptability strongly and positively predicted abortion acceptability (OR_anomaly = 2.63, p < .001; OR_poverty = 2.46, p < .001). Attitudes about preferential hiring and promotion of women were not associated with abortion attitudes, but favorable attitudes about working mothers were positively associated with abortion acceptability for fetal anomaly ((OR_anomaly = 1.09, p = .01; OR_poverty = 1.02, p = .641)). Results suggest negative abortion attitudes remain common in South Africa and are closely tied to religiosity, traditional ideologies about sexuality, and gender role expectations about motherhood.     

Insights from examination of hearts from adults dying suddenly to the understanding of congenital cardiac malformations

Congenital heart disease is a rare but important finding in adults who experience sudden death. Examination of the congenitally malformed heart has historically been considered esoteric and best left to those with expertise. The Cardiac Risk in the Young cardiovascular pathology laboratory based at St George's University of London has now received over 6,000 cases. Of these, 21 congenitally malformed hearts were retained for research and educational purposes. Hearts were assessed using sequential segmental analysis, and causes of death were adjudicated based on thorough macroscopic examination and histology. Congenital malformations that were encountered included atrial septal defects, ventricular septal defects, tetralogy of Fallot, and transposition of the great arteries in both its regular and congenitally corrected variants. Findings also included hearts with mirror-imaged and isomeric atrial appendages. Direct causes of death included myocardial fibrosis, pulmonary hypertension, and hemorrhage. A small but notable proportion did not reveal a substrate for arrhythmia, raising the question of whether the terminal event was due to the congenital heart disease itself, or an underlying channelopathy. Here, we demonstrate the value of simple sequential segmental analysis in describing and categorizing the cases, with the concept of the “morphological method” serving to identify the distinguishing features of the cardiac components. Clin. Anat. 33:394–404, 2020. © 2019 Wiley Periodicals, Inc.     

山西省出生缺陷高发区土壤元素分布特征

目的 了解出生缺陷高发区土壤中元素分布特征,为出生缺陷的干预和治疗提供理论依据.方法 于2005年1-5月,选择山西省吕梁山区出生缺陷高发的中阳县和交口县作为出生缺陷高发区,以人口相对集中的河道两侧为采样点,共涉及8个乡镇,79个行政村;选择晋中盆地出生缺陷低发的祁县作为出生缺陷对照区,采样点均匀分布,共涉及6个乡镇,27个行政村.采集距耕地表层10～20cm深的土壤,共采集样品131件.采用ICP-电感耦合等离子发射光谱法,对土壤样品中的16种元素进行测定.结果 高发区土壤中元素总量明显高于低发区.与祁县相比,交口县土壤中元素含量偏高的有As、Mo、Pb、Ni、V,含量偏低的元素有Se,差异均有统计学意义(P＜0.05);中阳县土壤中含量偏高的元素为Sn、Se、Mo、Zn、Sr、Pb、Ni、Fe、V、Ca、Cu、Al,偏低的元素为Mg和Na,差异均有统计学意义(P＜0.05).土壤中元素含量(μg/g)与出生缺陷发病率的(1/万)逐步回归分析显示,交口县土壤中Mo、Al、As、Ni、Pb、Zn元素对病情影响有统计学意义(均P＜0.01),其标准的逐步回归判别方程为:y=-1.321 1.106 Mo-0.509 Al 0.117 As 0.663 Ni-0.429 Pb-0.262 Zn(R2a=0.891);中阳县土壤中Pb、Mg、Ca、Al、Zn元素对病情影响有统计学意义(均P＜0.05),其标准回归方程为:y=-1.757 0.441 Pb-0.264Mg 0.309 Ca-0.186Al 0.162Zn (R2a2=0.839).结论 交口县和中阳县土壤中Pb、Mo、Al等含量异常可能是两县出生缺陷高发的原因之一.     

Self-regulation and social and behavioral functioning following childhood traumatic brain injury.

This study examined the impact of childhood traumatic brain injury (TBI) on self-regulation and social and behavioral functioning, and the role of self-regulation as a predictor of children's social and behavioral functioning. Participants included 65 children with moderate to severe TBI and 65 children without TBI, all between 6 and 11 years of age. Self-regulation and social and behavioral functioning were assessed 2 to 5 years following injury. Children with TBI displayed deficits in self-regulation and social and behavioral functioning, after controlling for socioeconomic status (SES), although the magnitude of the deficits was not related to injury severity. Self-regulation accounted for significant variance in children's social and behavioral functioning, after controlling for SES and group membership. Self-regulation may be an important determinant of children's social and behavioral functioning following TBI.     

Urodynamic studies in the evaluation of young men presenting with lower urinary tract symptoms

AIM: To evaluate the usefulness of urodynamic study in young men with lower urinary tract symptoms (LUTS). METHODS: We reviewed the charts of 50 men with LUTS aged 50 years and below. Those with neurological diseases, urethral trauma or strictures were excluded. All underwent multichannel urodynamic studies (UDS). The pre- and post-UDS diagnoses and treatment modalities were compared. RESULTS: Mean age was 38.1 years (17-49). The main pre-UDS diagnoses included prostatitis in seven (14%), overactive bladder in seventeen (34%) and benign prostatic hyperplasia in nine (18%). Pre-UDS management ranged from anticholingeric agents for thirteen (26%), alpha-adrenergic antagonists for nine (18%), antibiotics for six (12%). Abnormal UDS were noted in 36 (72%), including detrusor overactivity in 9 (18%), detrusor underactivity/acontractility in 5 (10%) and bladder outlet obstruction in 21 (42%). Fourteen (28%) had primary bladder neck dysfunction and five (10%) had benign prostatic hyperplasia. Post-UDS management included anticholingeric agents for ten (26%), alpha-adrenergic antagonists for seventeen (34%), catheterization for four (10%), behavioral therapy for three (6%), surgery for three (6%). None were prescribed antibiotics. Following UDS, the diagnosis had to be updated in 40 (80%) and concomitant change in management was required in 34 (68%). CONCLUSION: Young men presenting with LUTS have different underlying etiologies. Clinical diagnosis and treatment are often empiric and inaccurate. Urodynamic study is useful in the evaluation of this group of patients as it aids in arriving at an accurate diagnosis and guides treatment therapy.     

The value of a pantaloon cast test in surgical decision making for chronic low back pain patients: a systematic review of the literature supplemented with a prospective cohort study

The results of lumbar fusion in chronic low back pain (LBP) patients vary considerably, and there is a need for proper patient selection. Lumbosacral orthoses have been widely used to predict outcome, however, with little scientific support. The aim of the present study was to determine the value of a pantaloon cast test in selecting chronic LBP patients for lumbar fusion or conservative management. First, a systematic review of the literature was carried out in which two independent reviewers identified studies in Medline, Cochrane and Current Contents databases. Three papers met the selection criteria. In the only study with a control group, a significantly better outcome after fusion compared to conservative treatment was found in patients who reported significant pain relief while in a cast (i.e. a positive cast test). The results of lumbar fusion, however, were not significantly different for patients with a positive and those with a negative cast test. In addition to the review, a clinical cohort study of 257 LBP patients, who had been allocated to either lumbar fusion or conservative management by a temporary external transpedicular fixation trial, was performed. Prior to allocation, all had undergone a pantaloon cast test. Patients with no history of prior spine surgery and with a positive pantaloon cast test had a better outcome after lumbar fusion than those treated conservatively (P = 0.002, χ ² test). In patients with previous spine operations the outcomes were poor and the test was of no value. From the literature and the present patient cohort, it was concluded that only in chronic LBP patients without prior spine surgery, a pantaloon cast test with substantial pain relief suggests a favorable outcome of lumbar fusion compared to conservative management. The test has no value in patients who have had previous spine surgery.