Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness.

Behavioral and psychiatric problems are common in patients with Prader-Willi syndrome (PWS), while physical complaints such as pain, fever, and vomiting are rare due to a high pain threshold and dysregulation of temperature control. PWS patients have an increased mortality rate, some due to undiagnosed life-threatening diseases. We describe 2 patients with PWS whose behavioral changes, initially thought to be part of their behavioral phenotype, delayed the final diagnosis of a life-threatening underlying illness. A 13-year-old girl with PWS presented with a sudden change in behavior including aggression, scratching, and self-injury. She was seen by several health care providers, and after 5 months the diagnosis of pyosalpinx was made, for which laparoscopic resection of an infected tailgut cyst was performed, resolving the behavioral symptoms. A 38-year-old man with PWS presented with recurrent vague inguinal pain and nonepileptic seizures. After several years of consulting physicians and psychiatrists, including several hospital admissions, the diagnosis of bilateral inguinal hernia was made. After surgical correction, the pain and seizures ceased. In PWS patients presenting with unexplained behavioral changes and unusual somatic complaints, clinicians should perform an extensive clinical examination and consider underlying physical illness rather than attribute the problem to the behavioral phenotype.

Autosomal Dominant Polycystic Kidney Disease in Children and Adolescents: Assessing and Managing Risk of Progression.

The clinical management of autosomal dominant polycystic kidney disease (ADPKD) in adults has shifted from managing complications to delaying disease progression through newly emerging therapies. Regarding pediatric management of the disease, there are still specific hurdles related to the management of children and adolescents with ADPKD and, unlike adults, there are no specific therapies for pediatric ADPKD or stratification models to identify children and young adults at risk of rapid decline in kidney function. Therefore, early identification and management of factors that may modify disease progression, such as hypertension and obesity, are of most importance for young children with ADPKD. Many of these risk factors could promote disease progression in both ADPKD and chronic kidney disease. Hence, nephroprotective measures applied early in life can represent a window of opportunity to prevent the decline of the glomerular filtration rate especially in young patients with ADPKD. In this review, we highlight current challenges in the management of patients with pediatric ADPKD, the importance of early modifying factors in disease progression as well as the gaps and future perspectives in the pediatric ADPKD research field.

Perfused boundary region as biomarker for endothelial integrity in former preterms in adolescence.

INTRODUCTION: Extremely low birth weight (ELBW) survivors have microvascular structural differences already described in kidney and retina, suggesting changes in endothelial integrity. A biomarker of endothelial integrity is perfused boundary region (PBR), which measures glycocalycal thickness. The endothelial glycocalyx is a complex, highly versatile structure with essential roles in vascular integrity and function. We explored PBR patterns together with other microvascular markers in healthy controls and former ELBW children. METHODS: In the PREMATCH cohort (87 healthy controls, 93 ELBW survivors), we assessed endothelial integrity by calculating PBR (sidestream dark-field imaging), several microvascular markers (blood pressure, estimated glomerular filtration rate (eGFRcysC)), and retinal imaging in early adolescence. We explored differences between both groups, and searched for perinatal determinants of PBR and correlations between different microvascular markers. RESULTS: We provided reference values for PBR (average 1.90 µm, SD 0.30) in children. PBR was not different from ELBW survivors during early adolescence, despite their higher blood pressure, lower eGFRcysC, and different retinal vessel width and tortuosity. CONCLUSIONS: We generated reference values for PBR in early adolescence. Despite some correlations between microvascular parameters, there seem to be numerous confounders to propose PBR as a marker for endothelial integrity in ELBW survivors. IMPACT: The endothelial glycocalyx is a complex and versatile structure. Changes in blood pressure and retinal and renal vascularization suggest a disturbance of its integrity in extremely low birth weight (ELBW) survivors. Its thickness can be measured by calculating perfused boundary region (PBR) using sidestream dark-field imaging, with a higher PBR indicating a thinner glycocalyx. We generated reference values for PBR in healthy adolescents. These values were not different in former ELBW children. Despite some correlations of PBR with other microvascular biomarkers, these are not strong enough to describe endothelial integrity and its covariates in former ELBW children.

Early SARS-CoV-2 Reinfections within 60 Days and Implications for Retesting Policies.

Illustrated by a clinical case supplemented by epidemiologic data, early reinfections with SARS-CoV-2 Omicron BA.1 after infection with Delta variant, and reinfection with Omicron BA.2 after Omicron BA.1 infection, can occur within 60 days, especially in young, unvaccinated persons. The case definition of reinfection, which influences retesting policies, should be reconsidered.