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Myiasis is an infestation of living tissue with larvae of dipteran flies that commonly inhabit tropical and subtropical regions. The infection principally affects animals but human cases have been also reported. The larvae commonly invade the contaminated cutaneous structures such as wounds or furuncles, but sometimes can invade inner deeper structures. Many cases of myiasis affecting the newborn infants are globally reported with the highest incidence in rural communities with poor hygienic conditions. In this piece of research, we report a case of umbilical myiasis of an 11-day-old infant from Al-Mikhwah city, South Western Saudi Arabia. Parasitologic examination identified the infestation with tumbu fly (Cordylobia anthropophaga) larvae. The clinical presentation and epidemiology were discussed.

Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet–Biedl syndrome. In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.

Hypoglycemia may lead to neurological impairment; therefore, high-risk newborns are screened postnatally. However, hypoglycemia monitoring protocols often do not include cord blood acidosis as a risk factor. The study aimed to find an association between asymptomatic cord blood acidosis and hypoglycemia. All healthy term infants born at McMaster Children Hospital, Hamilton, Canada, between October 2013 and September 2014, who had umbilical cord blood pH