A5037732471- Congenital Diaphragmatic Hernia Studies
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Congenital Anomalies and Fetal Surgery
- Organ Transplantation Techniques and Outcomes
- Congenital Heart Disease Studies
- Liver Disease and Transplantation
- Esophageal and GI Pathology
- Pediatric Hepatobiliary Diseases and Treatments
- Transplantation: Methods and Outcomes
- Congenital heart defects research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Clinical Nutrition and Gastroenterology
- Congenital gastrointestinal and neural anomalies
- Urologic and reproductive health conditions
- Neonatal skin health care
- Myasthenia Gravis and Thymoma
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Anorectal Disease Treatments and Outcomes
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Gastrointestinal motility and disorders
- Otolaryngology and Infectious Diseases
- Trauma Management and Diagnosis
Ospedale Papa Giovanni XXIII
2017-2025
University of Genoa
2007
University of Bergamo
2004-2007
Hospital Universitario La Paz
1999-2000
Idom (Spain)
2000
Euskadiko Parke Teknologikoa
1999
Hospital de Cruces
1999
Leukocyte Adhesion Defects (LADs) are a group of rare autosomal recessive immune disorders characterized by constitutional defects in the process leukocyte migration. Among these, LAD-III is rarest, with only few cases documented scientific literature. It caused mutations FERMT3 gene, impairing integrin function both white blood cells and platelets. Thus, patients exhibit variable degree immunodeficiency along severe bleeding tendency referred to as “Glanzmann-like”, due dysfunctional...
Abstract Background In the last few years trio‐whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even nonspecific clinical pictures and atypical presentations of known diseases. Moreover WES allows detection variants multiple genes causing different conditions a single patient, about 5% cases. The resulting phenotype may be clinically discerned as variability expression phenotype, or new unreported syndromic condition. Methods Trio‐WES was...
Objective Primary repair is the treatment of choice in patients with tetralogy Fallot. The timing repair, however, remains controversial, and an initial palliative procedure might be considered a valuable option early management symptomatic young infants those either unfavourable anatomy, major associated lesions or chromosomal abnormalities poor life expectancy. Methods We reviewed 100 consecutive Fallot who were operated upon at our department during 8-year period from June 1995 to March...
the bidirectional cavopulmonary anastomosis is commonly used in palliation of patients with a functionally univentricular physiology. management alternative sources flow blood to lungs, as well magnitude acceptable accessory at time surgery, nonetheless, remains controversial. these issues are particularly significant when performed infants who may become candidates for fontan procedure. indeed, long-standing volume overload, which invariably associated maintenance pulmonary flow, result...
Congenital tracheal stenosis is a rare disorder, characterized by the presence of focal or diffuse complete cartilage rings, resulting in fixed narrowing. The entity may be seen isolation conjunction with other malformations that include an anomalous right upper lobe bronchus. We here report case 12-month-old girl who had severe bi-segmental congenital interposition bronchus between two stenotic segments.