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‘I still have difficulties feeling like a mother’: The transition to motherhood of preterm infants mothers
Objective: The premature birth of their infant can constitute a sudden interruption of the transition to motherhood that requires a reorganisation of the process. The present study aimed to analyseExpand
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
BACKGROUND Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. OBJECTIVE WeExpand
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Vaginal delivery in SARS‐CoV‐2‐infected pregnant women in Northern Italy: a retrospective analysis
To report mode of delivery and immediate neonatal outcome in women infected with COVID‐19.
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Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma
Monoallelic and biallelic mutations of the PRF1 gene have been reported in some cases of childhood lymphoma. Anaplastic large cell lymphoma (ALCL) accounts for 10% to 15% of all childhood lymphomas.Expand
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Consensus statement on the use of HRT in postmenopausal women in the management of osteoporosis by SIE, SIOMMMS and SIGO
Osteoporosis is a preventable and treatable chronic metabolic disease characterized by a decreased bone strength leading to an increased fracture risk as a consequence of low bone mineral densityExpand
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Hereditary surfactant protein B deficiency resulting from a novel mutation
Abstract Hereditary surfactant protein B (SP-B) deficiency is an autosomal recessive disease in which affected infants are unable to produce normally functional surfactant, resulting in neonatalExpand
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Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.
A female newborn was referred at birth to our hospital because of respiratory distress. Her family history was unremarkable except for the first-degree consanguinity of her parents. She had a mildlyExpand
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Abnormally expanded pro‐B hematogones associated with congenital cytomegalovirus infection
Hematogones are nonleukemic immature lymphocytes that display a B‐precursor phenotype and populate the pediatric bone marrow. We present the case of a newborn with an atypical, marked expansion ofExpand
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