Endometriosis in a Prepubertal Patient with 46,XY Difference in Sex Development: A Case Report.

INTRODUCTION: Endometriosis typically presents in postmenarchal patients with cyclic and acyclic pelvic pain. However, there are reports of endometriosis in premenarchal patients. CASE: We report a 10-year-old individual with 46,XY difference of sex development who was found to have endometriosis at the time of laparoscopic gonadectomy for gonadoblastoma. CONCLUSIONS: Although rare, endometriosis can occur in 46,XY individuals prior to puberty, highlighting the complex origin of the disease.

Pediatric Multidrug-Resistant Disseminated Tuberculosis Presenting as Small Finger Tuberculous Osteomyelitis: A Case Report.

CASE: We report a case in the United States of a 12-year-old girl with multidrug-resistant tuberculous (MDR-TB) osteomyelitis of the hand managed with surgical debridement and second-line anti-TB therapy. The disease course was complicated by dissemination and multifocal progression. CONCLUSION: Despite early intervention, multidrug resistance makes TB treatment challenging and facilitated progression to disseminated disease in this case. We review the difficulties in diagnosis and treatment of pediatric MDR-TB.

Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.

Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.

Neovagina stricture complicated by high-grade dysplasia in a patient with history of cloaca and ulcerative colitis: a case report and review of the literature.

Vaginoplasty with colon is a common technique for vaginal replacement in patients with cloaca. Malignancy in the neovagina is a rare outcome and typically presents decades after reconstruction. We present a case of an adolescent female with history of cloaca, ulcerative colitis, and high-grade dysplasia of the sigmoid neovagina.

Infantile myofibromatosis: multiple firm nodules in a premature newborn.

Infantile myofibromatosis is a rare myofibroblastic proliferative disorder characterized by firm, skin-colored to red-purple cutaneous and subcutaneous nodules; these are the most prevalent fibrous tumors observed in infancy. A premature male infant presented at birth with multiple subcutaneous firm skin-colored nodules measuring about 1-2cm each. Full body MRI and excisional biopsy of the right chest nodule confirmed the diagnosis. We review the case of infantile myofibromatosis and discuss its highly heterogeneous presentation and clinical course, as well as histopathology, genetic testing, and approaches to management.

An Exploratory Analysis of Public Awareness and Perception of Ionizing Radiation and Guide to Public Health Practice in Vermont.

Exposure to ionizing radiation has potential for acute and chronic health effects. Within the general public of the United States, there may be a discrepancy between perceived and actual health risks. In conjunction with the Vermont Department of Health, a survey designed to assess public perception and knowledge of ionizing radiation was administered at 6 Vermont locations (n = 169). Descriptive and inferential statistical analyses were conducted. Eighty percent of respondents underestimated the contribution of medical imaging tests to total ionizing radiation exposure. Although only thirty-nine percent of participants were confident in their healthcare professional's knowledge of ionizing radiation, most would prefer to receive information from their healthcare professional. Only one-third of individuals who received a medical imaging test in the past year were educated by their healthcare professional about the risks of these tests. Those who tested their home for radon were twice as likely to choose radon as the greatest ionizing radiation risk to self. Although respondents had an above-average education level, there were many misperceptions of actual risks of exposure to ionizing radiation, particularly of medical imaging tests. Educating healthcare professionals would therefore have a profound and positive impact on public understanding of ionizing radiation.