Ectodermal dysplasias: Classification and organization by phenotype,genotype and molecular pathway

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins).     

Gamification for Family Engagement in Lifestyle Interventions: A Systematic Review

Prevention Science - The majority of chronic conditions that plague the USA are modifiable by lifestyle change. Lifestyle interventions that incorporate family members for social support and that...     

Development and assessment of a verbal response scale for the Patient-Specific Functional Scale (PSFS) in a low-literacy,non-western population

Quality of Life Research - The Patient-Specific Functional Scale (PSFS) is a routinely used measure of physical function with a 0–10 response scale. We aimed to develop verbal response...     

Abnormal wall strain at distal end-to-side anastomoses

Cyclic stretch has been demonstrated to induce proliferative and secretory activities by cultured arterial endothelial and smooth muscle cells, cellular processes that contribute to the development of intimal hyperplasia. A model of an end-to-side anastomosis was developed to examine the hypothesis that regions of the artery at such anastomoses are subjected to facally increased cyclic stretch, which may stimulate the development of intimal hyperplasia. Polytetrafluoroethylene grafts were anastomosed end to side to latex rubber tubes that have elastic properties similar to those of the human femoral artery. Pulse waves with physiologic pressure, rate, and contour were applied, and systolic and diastolic diameters were measured in two planes at longitudinal intervals. Circumferential strain imposed on the latex artery was calculated at each interval. Strain imposed perpendicular to the suture line was also measured. Circumferential strain was consistently maximal at a distinct region of the artery along the proximal third of the anatomosis (6.0±1.1% vs. 3.3±0.5% at other regions of the artery). The maximal strain across the suture line was found at precisely the same region (3.9±0.3% vs. 2.0±0.4%). The anastomotic region of the recipient artery in a distal end-to-side anastomosis is subjected to cyclic circumferential strains two times greater than those experienced by the remainder of the artery. This corresponds to a common location of intimal hyperplasia. Such strains may be a stimulus for intimal hyperplasia.Presented at the Seventeenth Annual Meeting of the Peripheral Vascular Surgery Society, June 7, 1992, Chicago, Ill.     

Management consultancy. Shopping around

The NHS spends millions on management consultants but often has little idea of who to hire or how to get the best out of them. Philip Abbott shows how the health service can learn a few tricks from the private sector.     

Longitudinal association of vascular and Alzheimer's dementias, diabetes, and glucose tolerance

OBJECTIVE: To assess the relationship between impaired glucose tolerance and both vascular dementia and AD. BACKGROUND: Diabetes and abnormalities of glucose metabolism have been associated with stroke and poor cognitive function. In addition, glycoproteins and glycosylation have been postulated to be associated with the development of neuritic plaques characteristic of AD. METHODS: A historical prospective cohort study of Japanese-American men (n = 3,774), who were examined at ages 45 to 68 (1965 through 1968) and again at ages 71 to 93 (1991 through 1993). Measurements were obtained by clinical and home examinations: assessment of glucose intolerance (nonfasting 1 hour after glucose load) from 1965 through 1968 and history of diabetes diagnosed by a physician at examinations given from 1965 through 1968 and from 1976 through 1978. At the 1991 through 1993 examinations, the Cognitive Assessment Screening Instrument (CASI)-an instrument designed for use in cross-cultural settings combining features of the Folstein Mini-Mental State Examination, the Modified Mini-Mental State Examination, and the Hasegawa Dementia Screening Scale-was used. Diagnosis and classification of AD and vascular dementia were made by a consensus panel using neuropsychologic assessment data, a neurologist's evaluation, and information from a family informant. Diagnostic and Statistical Manual of Mental Disorders, 3rd ed., revised criteria were used to establish dementia, and subclassification by cause was based on other published criteria. RESULTS: No association between AD and diabetes, present either 25 or 15 years previously, was found after adjustment for age and education in a multiple regression model. A significant association was found between impaired glucose tolerance at baseline and vascular dementia (p < 0.01). CONCLUSIONS: These findings confirm expected relationships between impaired glucose tolerance and stroke-related dementia but do not support an association of disordered glucose metabolism with AD.     

Eating disorders and psychiatric disorders in the first-degree relatives of obese probands with binge eating disorder and obese non-binge eating disorder controls.

OBJECTIVE: The purposes of the present study were to examine the possibility of a familial tendency for binge eating disorder (BED) among the obese, to clarify the relationship between BED and other eating disorders, and to test the relationship between BED and other psychiatric disorders. METHOD: We studied 32 female BED outpatients and 23 obese females without BED. A possible history of eating disorders was assessed using the Structured Clinical Interview for DSM-III-R-Eating Disorders section administered by telephone interview. Family history information for other psychiatric disorders was collected using the Family History Research Diagnostic Criteria RESULTS: The frequency of all eating disorders and the risk for other psychiatric disorders were not significantly different between the relatives of the two groups. These results were consistent across generation and gender. DISCUSSION: This study failed to show a familial tendency for BED, or any significant familial relationship between BED and other eating disorders, and did not support the hypothesis of coaggregation of other psychiatric disorders with BED.     

Marrow regeneration after mechanical depletion

The origin of marrow regeneration after mechanical depletion was reinvestigated in mouse chimeras. The results were compatible with the local origin of stem cells from remnants of incompletely removed marrow, but not with their origin from a common precursor of both bone and hemopoietic cell lines. In transplanted femurs depleted by a modified technique of in vivo evacuation of marrow, hemopoietic regeneration failed to occur. The presence of hemopoietic stem cells in the Haversian canals was thus excluded. The demonstration of ample hemopoiesis with minimal bone formation in nondepleted controls in which bone marrow initially became necrotic provided new evidence that osteogenesis was not a prerequisite of hemopoietic regeneration.