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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
TLDR
The results strongly suggest that TTC7A gene defects cause CID-MIA.
Vaginal delivery in SARS‐CoV‐2‐infected pregnant women in Northern Italy: a retrospective analysis
TLDR
To report mode of delivery and immediate neonatal outcome in women infected with COVID‐19, mode of Delivery and immediate newborn outcome in Women infected withCOVID‐18 are reported.
‘I still have difficulties feeling like a mother’: The transition to motherhood of preterm infants mothers
TLDR
The themes showed that the mothers’ experience of preterm birth not only concerns the traumatic delivery, but is also embedded in the entire process of becoming a mother within an institutional context, revealing difficulties for preterm mothers that could affect the development of the maternal constellation and thus their transition to motherhood.
Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma
TLDR
The authors screened a series of patients collected by the Associazione Italiana di Ematologia Oncologia Pediatrica (AIEOP) for the possible role of PRF1 mutations in ALCL.
Hereditary surfactant protein B deficiency resulting from a novel mutation
TLDR
A newborn infant who had onset of respiratory distress during the first days, was unresponsive to exogenous surfactant, corticosteroids, prostacyclin, high frequency oscillatory ventilation and inhaled nitric oxide, and died after 27 days is reported.
Repeated gestational trophoblastic disease after natural and heterologous assisted conception. A case report.
TLDR
This case has interesting etiologic implications, but it is difficult to make any extrapolation from this very peculiar case in terms of definition/quantification of maternal and paternal components in the development of gestational trophoblastic disease.
Evaluation of Rooming-in Practice for Neonates Born to Mothers With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Italy.
TLDR
The findings of this cohort study provide evidence-based information on the management of mother-infant dyads in case of SARS-CoV-2 maternal infection suggesting that rooming-in and breastfeeding can be practiced in women who are able to care for their infants.
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