Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Infantile Hemangioma With Aggressive, Early-Onset Ulceration, and Kasabach-Merritt-Like Phenomenon in a Newborn.

Infantile hemangiomas (IH) are the most common benign tumors of infancy and progress through recognized stages of evolution including early proliferation, plateau, and involution. Ulceration is a common complication of IHs typically observed during the early proliferative stage characterized by rapid growth. In rare cases, ulceration is the primary clinical manifestation of IHs.

A Quantitative Analysis of Human and Material Resources for Endoscopy Services in Pacific Island Countries.

Aims: This study aims to evaluate the current state of endoscopy services in Pacific Island Countries (PICs) by quantifying human and material resources, including the number of trained endoscopists and nurses, the types of procedures performed, and the availability and maintenance of endoscopic equipment.

Methods And Results: A mixed methods survey was conducted in 2023, targeting doctors and nurses who participated in the WGO-FNU-ANZGITA endoscopy training program as well as non-participants. Survey invitations were sent through email, WhatsApp, and Facebook Messenger.

Rapidly Progressive Idiopathic Pyoderma Gangrenosum in a Pediatric Patient Successfully Treated With Infliximab.

Pyoderma gangrenosum (PG) is a rare skin disorder with poorly understood pathophysiology. PG infrequently occurs in children, and approximately 4% of patients with PG are infants and children. First line therapy is topical and systemic corticosteroids, which typically yields rapid response.

Latin American Study on parenteral and enteral nutritional therapy-ELANPE Study ELANPE Group.

Objective: We describe the status of medical nutrition therapy in adult patients in several hospitals in Latin America in 2023. with the aim of deepening understanding of its implementation and thus, in turn, contributing to the advancement of future guidelines.

Materials And Methods: This is a descriptive, multicenter, cross-sectional study.

Doses to the right coronary artery and the left anterior descending coronary artery and death from ischemic heart disease after breast cancer radiotherapy: a case-control study in a population-based cohort.

Background And Purpose: Doses to the coronary arteries in breast cancer (BC) radiotherapy (RT) have been suggested to be a risk predictor of long-term cardiac toxicity after BC treatment. We investigated the dose-risk relationships between near maximum doses (Dmax) to the right coronary artery (RCA) and left anterior descending coronary artery (LAD) and ischemic heart disease (IHD) mortality after BC RT.

Patients And Methods: In a cohort of 2,813 women diagnosed with BC between 1958 and 1992 with a follow-up of at least 10 years, we identified 134 cases of death due to IHD 10-19 years after BC diagnosis.

Regimen for accelerated propranolol initial dosing (RAPID).

Background: Infantile hemangiomas are common vascular tumors in children. Propranolol has proven effective in treating infantile hemangiomas and while generally safe, has potential risk for more serious side effects of hypoglycemia, hypotension, bradycardia, bronchospasm, and cardiovascular or respiratory compromise. Current prescribing guidelines recommend initiating propranolol doses at 1 mg/kg/day, with up-titration to 2 mg/kg/day.

Reduction of elective lymph node volume in radiotherapy of early anal squamous cell cancer: a comparative study between two Swedish university hospitals.

Background: Anal squamous cell cancer (ASCC) in early stages (T1-2N0M0) is treated with chemoradiotherapy with a 3-year overall survival (OS) exceeding 90%. In Swedish guidelines, it has been optional to include the external iliac and presacral lymph node (LN) stations in radiotherapy (RT) treatment fields in early ASCC. Two Swedish hospitals treating ASCC (SU: Sahlgrenska University Hospital; UU: Uppsala University Hospital) have chosen different approaches since 2010.

Population-based assessment of cardiovascular complications of rheumatic heart disease in Fiji: a record-linkage analysis.

Objective: To determine population-based rates of non-fatal complications of rheumatic heart disease (RHD).

Design: Retrospective cohort study based on multiple sources of routine clinical and administrative data amalgamated by probabilistic record-linkage.

Setting: Fiji, an upper-middle-income country, where most of the population has access to government-funded healthcare services.

Assessing pain catastrophizing and functional disability in pediatric epidermolysis bullosa patients.

Background/objectives: The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) and their parents/guardians. Secondary objectives included examining relationships between pain catastrophizing, functional disability, and correlations with other factors (e.g.

Atopic dermatitis-like graft-versus-host disease treated with dupilumab.

The mainstay of treatment for atopic dermatitis (AD)-like graft-versus-host disease (GVHD) in both pediatric and adult patients includes oral corticosteroids with or without other systemic immunosuppressive therapies. To our knowledge, we report the first case series of dupilumab in the treatment of AD-like GVHD in a pediatric cohort of four patients, where we observed clinical improvement of GVHD as well as a reduction in itch in 3/4 (75%) patients. Our findings suggest that dupilumab is not only effective in treating AD-like GVHD, but also reduces systemic immunosuppression in the pediatric transplant population.

Safety of dupilumab in a 5-month-old infant with severe atopic dermatitis.

Dupilumab is a fully humanized monoclonal antibody that suppresses Th2-mediated inflammation by inhibiting signaling of interleukin-4 and interleukin-13 through the interleukin-4 alpha receptor subunit, and is approved by the FDA for the treatment of moderate to severe atopic dermatitis (AD) in children 6 years of age and older. While initial data from phase 2 trials in children less than 6 years are promising, dupilumab use in children less than 6 months of age is not well studied. Here we present a case of a 5-month-old boy with severe primary AD, eosinophilia, hypogammaglobulinemia, and poor weight gain, who was successfully treated with dupilumab and experienced no serious adverse effects.

Anal cancer in Sweden 2015-2019. Implementation of guidelines, structural changes, national registry and early results.

Background: Squamous cell cancer of the anus is an uncommon malignancy, usually caused by human papilloma virus (HPV). Chemoradiotherapy (CRT) is the recommended treatment in localized disease with cure rates of 60-80%. Local failures should be considered for salvage surgery.

Acute Kidney Injury: Incidence, aetiology, management and outcome measures of a Samoan case series.

Background: Acute Kidney Injury (AKI) is a major and under-recognised cause of morbidity and mortality worldwide. Low and middle-income countries bear the greatest burden of AKI (85%). There is currently no published literature on AKI from the Pacific Islands.

Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.

Junctional epidermolysis bullosa (JEB) is characterized by skin and mucous membrane fragility leading to easy blistering. Blistering may be the result of multiple genetic mutations, including the LAMB3 gene encoding a subunit of laminin 332, an important protein in the basement membrane zone. The clinical presentation of JEB includes blistering and granulation tissue forming anywhere on the skin including around oral and nasal cavities, fingers, toes, and within mucous membranes such as the upper respiratory tract.

Establishing Reference Values for Isometric Knee Extension and Flexion Strength.

Single-joint isometric and isokinetic knee strength assessment plays an important role in strength and conditioning, physical therapy, and rehabilitation. The literature, however, lacks absolute reference values. We systematically reviewed the available studies that assessed isometric knee strength.

Uniting the Global Gastroenterology Community to Meet the Challenge of Climate Change and Nonrecyclable Waste.

Climate change has been described as the greatest public health threat of the 21st century. It has significant implications for digestive health. A multinational team with representation from all continents, excluding Antarctica and covering 18 countries, has formulated a commentary which outlines both the implications for digestive health and ways in which this challenge can be faced.

Gender, health and ageing in Fiji: a mixed methods analysis.

Background: Women are disadvantaged by ageing: older women are more likely than older men to suffer from ill-health, have less access to health care and suffer discrimination within the health care system. Globally, there is a dearth of health research on gender and ageing with substantial knowledge gaps in low and middle-income country contexts. Part of a wider investigation on health and ageing in Fiji, our objective was to identify and describe gendered differences in healthy ageing in this Pacific Island context.

Bowel-associated dermatosis-arthritis syndrome in a child with very early onset inflammatory bowel disease.

A 6-year-old boy with severe very early-onset inflammatory bowel disease (VEO-IBD) was admitted for 1 week of high fevers, loose stools, joint pains, and myalgias. He subsequently developed a progressive, papular, and vesiculopustular eruption on his face with rapid spread to his trunk and extremities. Histopathology demonstrated dense dermal neutrophilic inflammation.