A Rare Cause of Scalp Swelling in Infants: Two Case Reports.

Delayed subaponeurotic fluid collection (DSFC) is an uncommon condition that causes scalp swelling in infants, usually appearing within the first weeks to months of life. Although the precise etiology is unclear, DSFC is frequently associated with instrumental or traumatic deliveries. We report two cases of DSFC: a 12-week-old boy and a six-week-old girl, both presenting with progressive, fluctuant scalp swelling without any history of trauma.

The use of two or more courses of low-dose systemic dexamethasone to extubate ventilator-dependent preterm neonates may be associated with a higher prevalence of cerebral palsy at two years of corrected age.

Background: Our objective was to determine whether the use of two or more courses of low-dose systemic dexamethasone for extubation of ventilator-dependent preterm infants after the first week of life, as proposed in the DART study, is associated with greater neurodevelopmental harm at two years of corrected age, compared to a single course.

Methods: Retrospective review at seven level III neonatal intensive care units. Preterm infants who underwent only one course of systemic dexamethasone for extubation were grouped into DART-1; those who underwent two or more courses were grouped into DART-2.

The influence of Aloe vera with mesenchymal stem cells from dental pulp on bone regeneration: characterization and treatment of non-critical defects of the tibia in rats.

Objective: This study aimed to evaluate the inflammatory effect and bone formation in sterile surgical failures after implantation of a collagen sponge with mesenchymal stem cells from human dental pulp (hDPSCs) and Aloe vera.

Material And Methods: Rattus norvegicus (n=75) were divided into five experimental groups according to treatment: G1) control (blood clot); G2) Hemospon®; G3) Hemospon® in a culture medium enriched with 8% Aloe vera; G4) Hemospon® in a culture medium containing hDPSCs and G5) Hemospon® in a culture medium enriched with 8% Aloe vera and hDPSCs. On days 7, 15 and 30, the animals were euthanized, and the tibia was dissected for histological, immunohistochemistry and immunofluorescence analyses.

Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis.

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida.

Neonatal Hemophilia: A Rare Presentation.

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures.

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia.

A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge.

Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition.

Twin anemia polycythemia sequence: a report of three cases.

Background: Vascular anastomoses in monochorionic placentas are the key factor in the develop- ment of several complications, including twin anemiapolycythemia sequence (TAPS). TAPS is an uncommon form of chronic fetofetal transfusion, characterized by large intertwin hemoglobin (Hb) differences in the absence of amniotic fluid discordances.

Case: We report 3 unusual cases of spontaneous TAPS.

Congenital disorders of glycosylation with neonatal presentation.

Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly.

Gene network reconstruction reveals cell cycle and antiviral genes as major drivers of cervical cancer.

Although human papillomavirus was identified as an aetiological factor in cervical cancer, the key human gene drivers of this disease remain unknown. Here we apply an unbiased approach integrating gene expression and chromosomal aberration data. In an independent group of patients, we reconstruct and validate a gene regulatory meta-network, and identify cell cycle and antiviral genes that constitute two major subnetworks upregulated in tumour samples.