A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis.     

Esophagectomy versus endoscopic resection for patients with early-stage esophageal adenocarcinoma: A National Cancer Database propensity-matched study

Objectives

Endoscopic resection has been rapidly adopted in the treatment of early-stage esophageal tumors. We compared the outcomes after esophagectomy or endoscopic resection for stage T1a adenocarcinoma.

Mitral valve surgery in the US Veterans Administration health system: 10-year outcomes and trends

Objective

To compare mitral valve repair (MVRepair) and mitral valve replacement (MVReplace) trends in the Veterans Affairs (VA) Surgical Quality Improvement Program.

Surgical resection improves median overall survival with marginal improvement in long-term survival when compared with definitive radiotherapy in Merkel cell carcinoma: A propensity score matched analysis of the National Cancer Database

Background

Definitive radiotherapy has been suggested as a treatment alternative to surgical resection in Merkel cell carcinoma (MCC).

Repair of congenital esophageal atresia with tracheoesophageal fistula repair in Ontario over the last 20 years: Volume and outcomes

Background/Purpose

This study was designed to determine the volume, postoperative surgical outcomes and, if possible, the relationship between outcome and institutional / surgeon volume in neonates undergoing repair of esophageal atresia with tracheoesophageal fistula (EA-TEF) over the last 20 years in Ontario.

Updated Reference Standards for Cardiorespiratory Fitness Measured with Cardiopulmonary Exercise Testing: Data from the Fitness Registry and the Importance of Exercise National Database (FRIEND)

ObjectiveTo provide updated reference standards for cardiorespiratory fitness (CRF) for the United States derived from cardiopulmonary exercise (CPX) testing when using a treadmill or cycle ergometer.Patients and MethodsThirty-four laboratories in the United States contributed data to the Fitness Registry and the Importance of Exercise National Database. Analysis included 22,379 tests (16,278 treadmill and 6101 cycle ergometer) conducted between January 1, 1968, through March 31, 2021, from apparently healthy adults (aged 20 to 89 years). Percentiles of peak oxygen consumption for men and women were determined for each decade from 20 through 89 years of age for treadmill and cycle exercise modes, as well as when defining maximal effort as respiratory exchange ratio (RER) greater than or equal to 1.0 or RER greater than or equal to 1.1.ResultsFor both men and women, the 50^th percentile scores for each exercise mode decreased with age and were higher in men across all age groups and higher for treadmill compared with cycle CPX. The average rate of decline per decade over a 6-decade period was 13.5%, 4.0 mLO₂·kg^-1·min^-1 for treadmill CPX and 16.4%, 4.3 mLO₂·kg^-1·min^-1 for cycle CPX. Observationally, the mean peak oxygen consumption was similar whether using an RER criterion of greater than or equal to 1.0 or greater than or equal to 1.1 across the different test modes, ages, and for both sexes. The updated reference standards for treadmill CPX were 1.5 – 4.6 mLO₂·kg^-1·min^-1 lower compared with the previous 2015 standards whereas the updated cycling standards were generally comparable to the original 2017 standards.ConclusionThese updated cardiorespiratory fitness reference standards improve the representativeness of the US population compared with the original standards.     

Prediabetes and incident heart failure in hypertensive patients: Results from the Swedish Primary Care Cardiovascular Database

Backgrounds and aimsThe cardiovascular risk conferred by concomitant prediabetes in hypertension is unclear. We aimed to examine the impact of prediabetes on incident heart failure (HF) and all-cause mortality, and to describe time in therapeutic blood pressure range (TTR) in a hypertensive real-world primary care population.Methods and resultsIn this retrospective cohort study, 9628 hypertensive individuals with a fasting plasma glucose (FPG) in 2006–2010 but no diabetes, cardiovascular or renal disease were followed to 2016; median follow-up was 9 years. Prediabetes was defined as FPG 5.6–6.9 mmol/L, and in a secondary analysis as 6.1–6.9 mmol/L. Study outcomes were HF and all-cause mortality. Hazard ratios (HR) were compared for prediabetes with normoglycemia using Cox regression. All blood pressure values from 2001 to the index date (first FPG in 2006–2010) were used to calculate TTR. At baseline, 51.4% had prediabetes. The multivariable-adjusted HR (95% confidence intervals) was 0.86 (0.67–1.09) for HF and 1.06 (0.90–1.26) for all-cause mortality. For FPG defined as 6.1–6.9 mmol/L, the multivariable-adjusted HR were 1.05 (0.80–1.39) and 1.42 (1.19–1.70), respectively. The prediabetic group had a lower TTR (p < 0.05).ConclusionsPrediabetes was not independently associated with incident HF in hypertensive patients without diabetes, cardiovascular or renal disease. However, prediabetes was associated with all-cause mortality when defined as FPG 6.1–6.9 mmol/L (but not as 5.6–6.9 mmol/L). TTR was lower in the prediabetic group, suggesting room for improved blood pressure to reduce incident heart failure in prediabetes.     

Analysis of syndromes using Bayes's formula

A method of demonstrating syndromes by means of Bayes's formula with correction for redundancy is described. By analysing a database from 421 patients, it was possible to produce the well-known syndromes and alternative patterns forming the basis for a diagnosis, choice of treatment and estimation of its results. In this way an inferential classification is prepared while other and similar methods mainly make use of a denominational classification. Advantages and disadvantages of both procedures are discussed.