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1.
JCEM Case Rep ; 2(7): luae122, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39027637

ABSTRACT

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth syndrome with multiple clinical manifestations, including hypoglycemia. Various genetic alterations leading to BWS have been described. Literature has also described the association between BWS and congenital diabetes, but little is known about the association with type 1 diabetes (T1D). We report a 4-year-old female patient with co-occurring BWS and T1D. The patient presented with 2.4-kilogram weight loss in 3 months accompanied by headache, polyuria, and polydipsia. Initial workup showed blood glucose of 681 mg/dL (37.8 mmol/L). Additional workup revealed marked elevation of the glutamic acid decarboxylase 65 and insulin antibodies, confirming the diagnosis of T1D. The patient's initial genetic test results revealed BWS caused by hypomethylation of the imprinting center 2 (IC2) found on maternal chromosome 11. Concurrence of BWS and T1D is rare and there are cases previously described where BWS has co-occurred with congenital diabetes but not T1D. Although the etiology of acquired autoimmunity is unclear, the answer may lie in genetic analysis or autoimmunity secondary to preceding viral illness. Regardless of the etiology, this case emphasizes further exploration of the association between BWS and T1D.

2.
Dis Mon ; 70(3): 101631, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37739834

ABSTRACT

This is an analysis of important aspects of health equity in caring for children and adolescents written by a multidisciplinary team from different medical centers. In this discussion for clinicians, we look at definitions of pediatric health equity and the enormous impact of social determinants of health in this area. Factors involved with pediatric healthcare disparities that are considered include race, ethnicity, gender, age, poverty, socioeconomic status, LGBT status, living in rural communities, housing instability, food insecurity, access to transportation, availability of healthcare professionals, the status of education, and employment as well as immigration. Additional issues involved with health equity in pediatrics that are reviewed will include the impact of the COVID-19 pandemic, behavioral health concepts, and the negative health effects of climate change. Recommendations that are presented include reflection of one's own attitudes on as well as an understanding of these topics, consideration of the role of various healthcare providers (i.e., community health workers, peer health navigators, others), the impact of behavioral health integration, and the need for well-conceived curricula as well as multi-faceted training programs in pediatric health equity at the undergraduate and postgraduate medical education levels. Furthermore, ongoing research in pediatric health equity is needed to scrutinize current concepts and stimulate the development of ideas with an ever-greater positive influence on the health of our beloved children. Clinicians caring for children can serve as champions for the optimal health of children and their families; in addition, these healthcare professionals are uniquely positioned in their daily work to understand the drivers of health inequities and to be advocates for optimal health equity in the 21st century for all children and adolescents.


Subject(s)
COVID-19 , Education, Medical , Health Equity , Adolescent , Humans , Child , Pandemics , Gender Identity , COVID-19/epidemiology
3.
J Forensic Sci ; 69(2): 702-708, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38140729

ABSTRACT

In examining deaths resulting from gunshot wounds, it is important to describe the wound pathway created by the projectile. Forensic pathologists must identify all entrance and exit wounds and account for all projectiles. Occasionally, confusion arises as to whether a skin defect represents an entrance wound or not, an exit wound, or some other type of wound. Herein, we propose the descriptor "bullet track skin defect" as a formal description for a superficial skin defect created along the pathway of a projectile within the body. Specifically, we define the "bullet track skin defect" as a partial- or full-thickness skin defect produced by a projectile traveling beneath the skin in a relatively tangential fashion as part of a wound pathway within the body. It is somewhat analogous to a traditional graze or superficial tangential wound, wherein the projectile traveling outside the body strikes the skin tangentially from above, without entering the body. However, the projectile is already traveling within the body with the bullet track skin defect, disrupting the skin tangentially from below rather than from above, without exiting the body. Although these defects are not a common presentation of gunshot wounds, they are certainly not rare. With this case series, we suggest that such defects may be referred to as "bullet track skin defects." Alternative language that can substitute for "bullet track skin defects" includes "bullet track skin wounds" or "bullet track cutaneous defects."


Subject(s)
Wounds, Gunshot , Humans , Forensic Ballistics , Research , Confusion , Pathologists
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