Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome.

Analysis of Refugee Children Hospitalized in a Tertiary Pediatric Hospital.

Refugee children are defined as an at-risk population as they have a high risk of physical and mental health conditions. While data exist regarding the mental health of refugee children, there are limited data about their medical health issues and mortality. Therefore, this study aimed to analyze the demographic data, clinical results, treatment/management data, and mortality data of hospitalized refugee children.

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single center experience and factors that influenced patient prognosis.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality.

High Rate of Living Kidney Donation to Immigrant Children Despite Disparities-An Epidemiological Paradox?

Kidney transplantation is the preferred treatment modality for children with end-stage renal disease. In the adult population, migration-related modifiable factors were associated with low living donation rates; no such data are available on the pediatric population. This pilot study therefore compares donation modality, communication, knowledge, and attitudes/beliefs between families of immigrant and non-immigrant descent.

Dynamic Thiol/Disulphide Homeostasis in Children with Nephrotic Syndrome.

Background: There is a growing body of evidence showing that there is an association between oxidative damage and kidney injury in patients with nephrotic syndrome (NS). Dynamic thiol/disulphide homeostasis (DTDH) is an important antioxidant system. The aim of this study was to determine if DTDH could be used as a biomarker of antioxidant status in pediatric NS patients using a novel automated method.

Brucellar terminal ileitis and epididymo-orchitis in an adolescent; case report and review of the literature.

Although brucellosis is a multi-systemic illness, terminal ileitis or colitis due to brucellosis is reported anecdotal in literature. Genitourinary manifestations of Brucella, namely epididymo-orchitis is very rare in childhood brucellosis. Herein, we present a case of brucellosis in a child with a rare combination of terminal ileitis and epididymo-orchitis not reported previously in the literature.