Vaginal Bleeding in an Infant with Extreme Prematurity

Background. Minipuberty of infancy refers to the transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first few months of life. Studies have documented a more exaggerated and prolonged gonadotropin surge in preterm infants compared with term infants. We present a case of minipuberty presenting with vaginal bleeding at the corrected age of 3 months of life. Case Presentation. A former 23 + 6-week infant presented with intermittent vaginal bleeding in the diaper at the corrected age of 3 months. Physical exam showed bilateral breast buds of 0.5 cm–1 cm with no signs of pubarche. Investigations showed pubertal levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol. As she was impressed to have exaggerated minipuberty due to extreme prematurity, no intervention was given. Repeated hormonal workup at the corrected age of 8 months showed decreasing trend of gonadotropin and estradiol levels. Vaginal bleeding resolved, and breast buds also regressed clinically. Conclusion. Our case illustrated that the robust surge of gonadotropin in an ex-premature infant can in fact result in endometrial maturation and present as vaginal bleeding. Though the mechanism of this alteration in the HPG axis in prematurity is not clearly understood, pediatricians should be aware of the benign and self-limiting nature of this phenomenon and avoid unnecessary intervention

Effect of Membrane Permeability on Inflammation and Arterial Stiffness: A Randomized Trial

Background and objectives: Both larger molecule removal and dialyzer biocompatibility have been implicated in the high-flux hemodialysis (HD)-associated favorable outcome. In an attempt to delineate the effect of membrane permeability, we performed a randomized, crossover study to compare the inflammatory biomarkers, lipid profile, and aortic pulse wave velocity (PWV) of two dialyzers that are composed of identical membranes but with different flux characteristics

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

Abstract Objective To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators. Results A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81–1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%. Conclusion This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry