Rappaport Family Institute for Research in the Medical Sciences

Cosmetic Appearance After Eye Loss: The Role of Prosthesis Motility and Eyelid Function

Background/Objectives: We aimed to clarify which clinical and prosthetic features are most strongly associated with cosmetic appearance after eye loss. Methods: This prospective cross-sectional study included 107 patients with unilateral anophthalmia wearing acrylic prostheses. E...

Initial treatment strategies and outcomes across haemodynamic thresholds and risk stratification in incident systemic sclerosis–associated pulmonary arterial hypertension: a EUSTAR analysis

OBJECTIVE: Real-world initial treatment strategies in SSc-PAH remain incompletely described. We aimed to characterise these strategies across haemodynamic thresholds and risk strata and evaluate outcome associations. METHODS: We analysed treatment-naïve SSc-PAH patients in EUSTAR...

Clinical and System-Level Factors Associated With Digital Replantation Following Complete Traumatic Thumb or Other-Finger Amputation: A National Inpatient Analysis, 2016–2021

Purpose Digital replantation is traditionally guided by injury mechanism, functional priority, ischemia time, and patient factors. Pediatric age is commonly considered a favorable indication, whereas advanced age is often assumed to reduce candidacy. We examined associations of a...

The gene-regulatory evolution of the human skeleton

Abstract Skeletal modifications were central to human evolution, enabling adaptations for bipedalism, large cranial vaults and childbirth 1 . Despite their importance, the genetic changes that gave rise to the unique human form remain mostly unknown 2 . Here we systematically map...

Amniotic fluid index versus maximum vertical pocket for predicting adverse perinatal outcomes in singleton term pregnancies: A retrospective cohort study

OBJECTIVE: Amniotic fluid assessment is central to antepartum fetal surveillance. Current guidelines favor the maximum vertical pocket (MVP) over the amniotic fluid index (AFI), as AFI increases oligohydramnios diagnosis and labor induction rates without improving perinatal outco...

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C , reported in only two families to date. It typically presents with severe fetal akinesia, ar...

Hip and groin pain in physically active adults with a focus on terminology, clinical examination and imaging: A formal ESSKA‐EHPA‐ESMA Consensus

Abstract Purpose This European Society of Sports Traumatology, Knee Surgery and Arthroscopy–European Hip Preservation Associates–European Sports Medicine Association (ESSKA‐EHPA‐ESMA) formal consensus aims to provide evidence‐ and expert opinion‐based recommendations for the term...

Single-Molecule Imaging Reveals ERK-Dependent Spatial Translation in Cardiomyocytes

BACKGROUND: Translational control of gene expression is crucial in cardiomyocytes, particularly in response to hypertrophic stimuli. The ERK (extracellular signal-regulated kinase) pathway plays a key role in inducing cardiac hypertrophy and regulating specific protein translatio...

Factors associated with selection of total hip arthroplasty versus hemiarthroplasty for femoral neck fracture in older adults: a nationwide analysis of 99,084 cases

BACKGROUND: Surgical management of displaced femoral neck fractures in older adults typically involves hemiarthroplasty or total hip arthroplasty (THA). Although clinical guidelines suggest that THA may be considered in selected healthier and cognitively intact patients, real-wor...

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant—A Case Report and Review of the Literature

Prompted by a fetus with a homozygous PPP1R13L pathogenic variant and persistent open eyelids on sonography, suggesting fusion failure, this study marks the first prenatal human description linking PPP1R13L to eyelid closure, mirroring waved with open eyelids 2(woe2) and waved 3...