Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.

Telomere biology disorder (TBD) can present within a wide spectrum of symptoms ranging from severe congenital malformations to isolated organ dysfunction in adulthood. Diagnosing TBD can be challenging given the substantial variation in symptoms and age of onset across generations. In this report, we present two families, one with a pathogenic variant in ZCCHC8 and another with a novel variant in TERC.

Epidemiological Study of Malignant Paediatric Liver Tumours in Denmark 1985-2020.

Background: Malignant liver tumours in children are rare and national outcomes for this tumour entity are rarely published. This study mapped paediatric liver tumours in Denmark over 35 years and reported on the incidence, outcomes and long-term adverse events.

Methods: We identified all liver tumours from the Danish Childhood Cancer Registry and reviewed the case records for patient and tumour characteristics, treatment and clinical outcome.

Microvillus Inclusion Disease Caused by : Different Presentation and Phenotypes Despite Same Mutation.

Microvillus inclusion disease (MVID) is associated with specific variants in the gene causing disrupt epithelial cell polarity. MVID may present at birth with intestinal symptoms or with extraintestinal symptoms later in childhood. We present 3 patients, of whom 2 are siblings, with variants and different clinical manifestations, ranging from isolated intestinal disease to intestinal disease combined with cholestatic liver disease, predominant cholestatic liver disease clinically similar to low-gamma-glutamyl transferase PFIC, seizures, and fractures.

-associated Placentitis in the absence of maternal seroconversion.

Severe granulomatous chronic villitis with focal remnants of was confirmed by immunohistochemistry and DNA-based methods in the placenta from a child that died four days after birth. The immunocompetent mother was seronegative for at delivery and 10 months later. Placental infection may happen without maternal systemic infection.

Conjoined twins after single blastocyst transfer: a case report including detailed time-lapse recording of the earliest embryogenesis, from zygote to expanded blastocyst.

Conjoined twins are estimated to occur in 1:50 000 pregnancies. Eighteen cases of pregnancies achieved by ART have been published of which three were achieved after single embryo transfer, allowing discussion of embryo characteristics. We report, to the best of our knowledge, the first case of parapagus conjoined twins after ART.