Comparing achievability and reproducibility of pulsed wave doppler and tissue doppler myocardial performance index and spatiotemporal image correlation annular plane systolic excursion in the cardiac function assessment of normal pregnancies.

Objectives: Multiple techniques have been proposed for functional fetal cardiology, including pulsed-wave (PW) and tissue Doppler imaging (TDI), Myocardial Performance Index (MPI), annular plane systolic excursion (TAPSE/MAPSE) and spatiotemporal image correlation (STIC). We aimed to compare these techniques' achievability and reproducibility to determine their clinical utility for each cardiac side.

Methods: Uncomplicated pregnancies from 22 to 39 weeks were recruited and images and volumes stored for offline analysis.

A Queen City Legacy: 45 Years of Research in Pregnant Women with Insulin-Dependent Diabetes Mellitus, The Diabetes in Pregnancy Program Project Grant.

The Diabetes in Pregnancy Program Project Grant (PPG) was a 15-year program focused on enhancing the care for women with insulin-dependent diabetes mellitus (IDDM) during pregnancy and improving the well-being of their offspring. Launched in July 1978 at the University of Cincinnati, the PPG pursued a multifaceted research agenda encompassing basic science, animal and placental studies, and maternal and neonatal clinical trials to understand the physiological and pathophysiological aspects of IDDM during pregnancy. A total of 402 singleton pregnancies in 259 women with IDDM were enrolled prior to 10 weeks gestation over the 15-year period.

Hypoglycemia in Pregnant Women with Type 1 Diabetes: Is It Inevitable?

The human body has abundant mechanisms to counteract hypoglycemia and prevent neuroglycopenia primarily involving the secretion of glucagon and adrenalin. Within several years from the onset of diabetes, people with type 1 diabetes lose their ability to mount a counterregulatory response to hypoglycemia and develop hypoglycemia unawareness, thus being at risk for deteriorating to a state of severe hypoglycemia and neuroglycopenia. Pregnant individuals with type 1 diabetes are particularly prone to experience severe hypoglycemia during the first half of pregnancy.

Embryonic, Fetal, and Neonatal Complications in Infants of Diabetic Mothers: Insights from the Cincinnati Diabetes in Pregnancy Program Project Grant.

This study aimed to review how the Cincinnati Diabetes in Pregnancy Program Project Grant (PPG) contributed to the understanding and treatment of neonatal complications in infants of diabetic mothers (IDMs). This is a retrospective review of all PPG work on glycemic control at different pregnancy time points and its association with embryonic, fetal, and neonatal complications, such as congenital malformations (CMs), intrauterine growth restriction, macrosomia, hypoglycemia, respiratory distress syndrome (RDS), asphyxia, and polycythemia. We found that maternal vasculopathy and poor glycemic control during embryogenesis, but not frequency of maternal hypoglycemic episodes or insulin therapy, are independent risk factors for major CMs.

Unraveling the Magnesium Connection: The Cincinnati PPG's Pioneering Work on Mineral Metabolism in Diabetes and Pregnancy.

This study aimed to review the Cincinnati PPG's contribution to the understanding and treatment of neonatal hypocalcemia (NHC) in infants of diabetic mothers. This study is a retrospective review of the NIH-funded Program Project Grant (PPG) works related to mineral metabolism in type 1 diabetic pregnant women. The PPG investigators first described the epidemiology and the additional risk factors for NHC, namely prematurity and neonatal asphyxia, but also recognized the independent effect of maternal diabetes mellitus.

Final Results for Adjuvant Dabrafenib plus Trametinib in Stage III Melanoma.

Background: The 5-year results of this trial showed that adjuvant therapy with dabrafenib plus trametinib resulted in longer relapse-free survival and distant metastasis-free survival than placebo among patients with V600-mutated stage III melanoma. Longer-term data were needed, including data regarding overall survival.

Methods: We randomly assigned 870 patients with resected stage III melanoma with V600 mutations to receive 12 months of dabrafenib (150 mg twice daily) plus trametinib (2 mg once daily) or two matched placebos.

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

Introduction: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants (PVs) in DNA repair genes, predominantly the XPC gene.

Objectives: Report a unique phenotypic expression of mutant XPC allele that may be compatible with a putative modifier role for MC1R polymorphism.

Methods: A family of 13 siblings, seven of whom were diagnosed with at least one cutaneous melanoma (N = 53) and non-melanoma skin cancers (N = 9) was studied.

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

Aim: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome).

Methods: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins.

A tailored phase I-specific patient-reported outcome (PRO) survey to capture the patient experience of symptomatic adverse events.

Background: Patient perspectives are fundamental to defining tolerability of investigational anti-neoplastic therapies in clinical trials. Phase I trials present a unique challenge in designing tools for efficiently collecting patient-reported outcomes (PROs) given the difficulty of anticipating adverse events of relevance. However, phase I trials also offer an opportunity for investigators to optimize drug dosing based on tolerability for future larger-scale trials and in eventual clinical practice.

Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome.

Obstructive sleep apnea syndrome (OSAS) (OMIM #107650) is characterized by complete or partial obstruction of the upper airways, resulting in periods of sleep associated apnea. OSAS increases morbidity and mortality risk from cardiovascular and cerebrovascular diseases. While heritability of OSAS is estimated at ∼40%, the precise underlying genes remain elusive.

Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous variant associated with a heterozygous variant.

Background: Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities.

Material And Methods: An 18-year-old female was referred to the Emergency Service of Hospital São Geraldo (HSG) claiming decreased right eye (RE) visual acuity associated with ocular pain that was noticed approximately 2 months earlier. She underwent a complete ophthalmic and physical examination including hands, ankle, wrist and chest X-ray, abdominal ultrasound, echocardiogram and genetic analysis (whole-exome sequencing).

A validated score to predict one-year and long-term mortality in patients with significant tricuspid regurgitation.

Aims: Most patients with significant (defined as ≥ moderate) tricuspid regurgitation (TR) are treated conservatively. Individual mortality rates are markedly variable. We developed a risk score based on comprehensive clinical and echocardiographic evaluation, predicting mortality on an individual patient level.

Predicting Factors for a Favorable Pathologic Response to Neoadjuvant Therapy in Esophageal Cancer.

Background: Favorable pathologic response(FPR) is a significant predictor for improved survival following Neoadjuvant therapy(NAT) in esophageal and gastroesophageal cancer(GEJ). Preoperative prediction of FPR could modify treatment plans. No reliable method for predicting FPR exists.

Thrombotic and bleeding complications in patients with chronic lymphocytic leukemia and severe COVID-19: a study of ERIC, the European Research Initiative on CLL.

Background: Patients with chronic lymphocytic leukemia (CLL) may be more susceptible to COVID-19 related poor outcomes, including thrombosis and death, due to the advanced age, the presence of comorbidities, and the disease and treatment-related immune deficiency. The aim of this study was to assess the risk of thrombosis and bleeding in patients with CLL affected by severe COVID-19.

Methods: This is a retrospective multicenter study conducted by ERIC, the European Research Initiative on CLL, including patients from 79 centers across 22 countries.

Evaluation of the patient experience of symptomatic adverse events on Phase I clinical trials using PRO-CTCAE.

Background: Adverse event (AE) reporting in early-phase clinical trials is essential in determining the tolerability of experimental anticancer therapies. The patient-reported outcome version of the CTCAE (PRO-CTCAE) evaluates AE components such as severity and interference in daily life. The aim of this study was to correlate the grade of clinician-reported AEs with patients' reported experience of these toxicities using PRO-CTCAE.

Trial of Cinpanemab in Early Parkinson's Disease.

Background: Aggregated α-synuclein plays an important role in Parkinson's disease pathogenesis. Cinpanemab, a human-derived monoclonal antibody that binds to α-synuclein, is being evaluated as a disease-modifying treatment for Parkinson's disease.

Methods: In a 52-week, multicenter, double-blind, phase 2 trial, we randomly assigned, in a 2:1:2:2 ratio, participants with early Parkinson's disease to receive intravenous infusions of placebo (control) or cinpanemab at a dose of 250 mg, 1250 mg, or 3500 mg every 4 weeks, followed by an active-treatment dose-blinded extension period for up to 112 weeks.

COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study.

Patients with chronic lymphocytic leukemia (CLL) may be more susceptible to Coronavirus disease 2019 (COVID-19) due to age, disease, and treatment-related immunosuppression. We aimed to assess risk factors of outcome and elucidate the impact of CLL-directed treatments on the course of COVID-19. We conducted a retrospective, international study, collectively including 941 patients with CLL and confirmed COVID-19.

Benign course and clinical features of COVID-19 in hospitalised febrile infants up to 60 days old.

Aim: Minimal data exist regarding the severity of COVID-19 in febrile infants under 60 days old. This multicentre prospective study explored the clinical course and outcomes of this hospitalised patient population, as, to date, the best approach has not been specifically addressed.

Methods: This study focused on the clinical features, laboratory parameters and outcomes of febrile infants up to 60 days old who tested positive for the virus and were hospitalised in Israel from March 2020 to January 2021.

Clinically Significant High-Grade AV Block as a Reversible Cause for Acute Kidney Injury in Hospitalized Patients-A Propensity Score Matched Cohort.

High-grade AV block (HGAVB) is a life-threatening condition. Acute kidney injury (AKI) which is usually caused by renal hypo-perfusion is associated with adverse outcomes. We aimed to investigate the association between AKI and HGAVB.