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.

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.

In this clinical report, we describe a male infant and his mother, who had similar congenital heart defects. They were both diagnosed neonatally with total anomalous pulmonary venous connection (TAPVC) in combination with other heart defects. Neither of the two had any other organ malformations or dysmorphic facial features.

A common deletion in the growth hormone receptor gene (d3-GHR) in the offspring is related to maternal placental GH levels during pregnancy.

Background: A common growth hormone receptor polymorphism with deletion of exon 3 (d3-GHR) has previously been linked to increased postnatal growth on the one hand and decreased fetal growth on the other. Regulation of fetal growth is positively dependent on secretion of placental GH (hGH-V).

Objective: We explored the effect of the fetal d3-GHR genotype on maternal serum levels of hGH-V and fetal growth.

Spontaneous Septostomy in a Twin Pregnancy Causing Fatal Amniotic Band Syndrome.

Complications due to spontaneous septostomy of the dividing membrane in monochorionic diamniotic pregnancies are rarely described. Herein, we report the case of a preterm female neonate from a monochorionic diamniotic twin pregnancy delivered by caesarean section at 32 weeks of gestation. She was born with a broad band of a transparent membrane-like material firmly attached to her lower abdomen.

Apheresis principles in a patient with chronic myeloid leukemia during pregnancy: challenges in cell separation and assessing transcript levels.

Background: Chronic myeloid leukemia (CML) is rarely diagnosed in pregnant women.

Case Report: We report a case of a pregnant woman who presented with a leukocyte count of 250 × 10 cells/L at gestational age (GA) 26 weeks and was diagnosed with CML in the chronic phase. Because the patient deliberately opted out of interferon α and tyrosine kinase inhibitor treatment, the main goal was to reduce the leukocyte count to postpone delivery beyond the number of weeks considered severely premature and avoid thromboembolic complications while continuously evaluating the clinical safety of the mother and fetus.

Role of CT angiography in bilateral pulmonary sequestration: a case report.

Bilateral pulmonary sequestration (PS) is a very rare congenital malformation. We describe a case of bilateral intralobar pulmonary sequestration (ILS) in a newborn. Both sequestrations received arterial supply from separate branches of the descending aorta and venous drainage was into ipsilateral inferior pulmonary veins.

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism.

The outcome of antenatal ultrasound diagnosed anomalies of the kidney and urinary tract in a large Danish birth cohort.

Objective: Antenatal ultrasound diagnosed anomalies of the kidney and urinary tract (AUDAKUT) are reported in 0.3%-5% on prenatal ultrasound (US) and 0.3%-4.

Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling.

Hydatidiform mole is treated with surgical uterine evacuation with suction and blunt curettage (D). Medical uterine evacuation should not be used (C). On clinical suspicion of hydatidiform mole, one representative sample of the evacuated tissue is fixed for histopathologic investigation and one is forwarded unfixed for genetic analysis (D).

Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening.

Objectives: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark.

Methods: Fetuses and infants diagnosed with CHD in the period 01.

[A rare form of twin-twin transfusion syndrome].

Twin anaemia-polycythaemia sequence (TAPS) is a rare form of feto-fetal transfusion between monochorionic twins. It occurs spontaneously or after laser surgery for twin-twin transfusion syndrome. TAPS is characterized by a large inter-twin haemoglobin difference and can be detected both ante- and postnatally.

Pathologic evaluation of normal and perfused term placental tissue.

This study reports for the 1st time the incidence and interobserver variation of morphologic findings in a series of 34 term placentas from pregnancies with normal outcome used for perfusion studies. Histologic evaluation of placental tissue is challenging, especially when it comes to defining "normal tissue" versus "pathologic lesions." A scoring system for registration of abnormal morphologic findings was developed.

Kinetics of silica nanoparticles in the human placenta.

The potential medical applications of nanoparticles (NPs) warrant their investigation in terms of biodistribution and safety during pregnancy. The transport of silica NPs across the placenta was investigated using two models of maternal-foetal transfer in human placenta, namely, the BeWo b30 choriocarcinoma cell line and the ex vivo perfused human placenta. Nanotoxicity in BeWo cells was examined by the MTT assay which demonstrated decreased cell viability at concentrations >100 µg/mL.

Cerebral autoregulation in the first day after preterm birth: no evidence of association with systemic inflammation.

Introduction: Both systemic inflammation and impaired cerebral autoregulation (CA) have been associated with brain injury in preterm infants. We hypothesized that impaired CA represents a hemodynamic link between inflammation and brain injury.

Results: Neither fetal vasculitis nor interleukin-6 (IL-6) affected CA significantly.

Ghrelin in the fetal pancreas - a digital quantitation study.

Ghrelin is a hormone produced by specialized neuroendocrine cells located in the fetal pancreas. In the adult, ghrelin has multiple effects, but in the fetus the role of ghrelin and the distribution of ghrelin-producing cells is not well documented. The aim of this study was to describe and quantitate the number of ghrelin positive cells in the pancreas during gestation.

Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions.

We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between ultrasound and autopsy. In 23 fetuses, the main diagnosis was confirmed and additional or more specific findings were observed on autopsy.

MMSET is highly expressed and associated with aggressiveness in neuroblastoma.

MMSET (WHSC1/NSD2) is a SET domain-containing histone lysine methyltransferase the expression of which is deregulated in a subgroup of multiple myelomas with the t(4;14)(p16;q32) translocation associated with poor prognosis. Recent studies have shown that MMSET mRNA levels are increased in other tumor types as well. We have carried out immunohistochemical staining of tissue microarrays and found that MMSET protein is frequently and highly expressed in neuroblastoma (MMSET positive in 75% of neuroblastomas, n = 164).

[Increased nuchal translucency in osteogenesis imperfecta].

A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.

Massive fetomaternal hemorrhage caused by an intraplacental choriocarcinoma: a case report.

Background. Intraplacental choriocarcinoma is a rare but highly malignant trophoblastic neoplasm. When found near term the risk of maternal metastasis is high because of the late diagnosis.