Search results for "neonatal"
showing 10 items of 581 documents
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
[A composite indicator for maternity hospital classification].
2018
OBJECTIVES: to propose a composite indicator for maternity hospital classification. DESIGN: descriptive analysis of maternity hospitals through a composite indicator and analysis of its association with infant readmissions within 30 days from the childbirth. SETTING AND PARTICIPANTS: 56 maternity units in Sicily, accounting for 44.436 newborns in 2014. MAIN OUTCOME MEASURES: infant readmission rates within 30 days from the childbirth. RESULTS: low-level hospitals show higher infant readmission rates (odds ratio: 1.3) which may be seen as a signal of inappropriateness of maternity care. CONCLUSIONS: the proposed indicator allows for a classification of maternity hospitals taking into account…
Variations in breastfeeding rates for very preterm infants between regions and neonatal units in Europe: results from the MOSAIC cohort
2010
Abstract: Objectives To compare breastfeeding rates at discharge for very preterm infants between European regions and neonatal units, and to identify characteristics associated with breast feeding using multilevel models. Methods Population-based cohort of 3006 very preterm births (2231 weeks of gestation) discharged home from neonatal units in eight European regions in 2003. Results Breastfeeding rates varied from 19% in Burgundy to 70% in Lazio, and were correlated with national rates in the entire newborn population. Women were more likely to breast feed if they were older, primiparous and European; more premature, smaller and multiple babies or those with bronchopulmonary dysplasia wer…
Complete congenital heart block in autoimmune hepatitis (SLA-positive).
1994
Complete congenital heart block is a serious complication of neonatal lupus erythematosus which most often occurs in children of mothers suffering from connective tissue disease. We report the occurrence of complete congenital heart block associated with autoimmune hepatitis (SLA-positive). A 32-year-old woman was treated for more than 10 years for autoimmune hepatitis (SLA-/ANA-positive) and remained in clinical remission under immunosuppressive therapy. She showed an MHC-haplotype typical for autoimmune hepatitis (A1, B8, DR3). After a normal first pregnancy, an emergency caesarean section was performed in the 32nd week of her second pregnancy because of fetal bradycardia. The child died …
Tuberous sclerosis complex with oral manifestations: A case report and literature review
2011
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. P…
Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.
2005
A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.
Cancers in Patients with von Willebrand Disease: A Survey from the Italian Association of Haemophilia Centres
2015
Besides its essential role in hemostasis, there is growing evidence that von Willebrand factor (VWF) has an additional antitumor effect. To elucidate the clinical significance of this biological activity we conducted a retrospective study on cancers among Italian patients with von Willebrand disease (VWD) on behalf of the Italian Association of Haemophilia Centres (AICE). A questionnaire to collect demographic, clinical, and treatment data of VWD patients with cancer was sent to all the 54 Italian Haemophilia Treatment Centres (HTCs) members of AICE. Overall, 18 HTCs (33%) provided information on 92 VWD patients (61 alive and 31 deceased) with 106 cancers collected during the period 1981 to…
Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.
2009
Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long-term outcome in Scheie patients undergoing ERT is scarce. We report a 38-year-old female Scheie patient who has been on ERT for 8 yea…
Human breast areolae as scent organs: morphological data and possible involvement in maternal-neonatal coadaptation.
2006
In humans, areolar skin glands (AG) enlarge during pregnancy and lactation. Their role in mother-infant interactions may pertain to protective, mechanical, and communicative functions. It was questioned here whether more profuse AG could be related to more optimal adaptation to breastfeeding. A morphological study of the areolae was undertaken between birth and day 3 to assess the number, secretory status, and spatial distribution of AG. These data were related to infants' weight variation, mothers' perception of their infant's behavior at breast, and time between delivery and onset of lactation. AG were seen in virtually all women but with great interindividual variations; their areolar di…
Obstetric and perinatal outcome of babies born from vitrified oocytes.
2013
Objective To assess outcomes after oocyte vitrification on obstetric and perinatal outcomes compared with those achieved with fresh oocytes. Design Retrospective cohort study. Setting Private university-affiliated IVF center. Patient(s) Children born after use of vitrified oocytes (1,027 from 804 pregnancies) and fresh oocytes (1,224 from 996 pregnancies). Singleton and multiples pregnancies from own and donated ova were included. Intervention(s) Oocyte vitrification by the Cryotop method. Main Outcome Measure(s) Pregnancy, delivery, and neonatal outcomes. Result(s) Vitrification had no clinically relevant adverse effects on obstetric and perinatal outcomes after adjusting for potential con…