Search results for " congenital"

Bidirectional Glenn and antegrade pulmonary blood flow: temporary or definitive palliation?

2008

Background We sought to investigate the role of the bidirectional Glenn with antegrade pulmonary blood flow in the surgical history of children with univentricular hearts. Methods A series of 246 patients, from three joint institutions, having univentricular heart with restricted but not critical pulmonary blood flow received a bidirectional cavopulmonary shunt with additional forward pulmonary blood flow. All patients have been studied according to their progression, or not, to Fontan operation. Two hundred and eight (84.5%) patients underwent bidirectional cavopulmonary anastomosis as primary palliation. Twenty patients (8.1%) with previous pulmonary artery banding were also enrolled in t…

Invited commentary.

2007

Evaluation of gastric intramucosal pH during and after pediatric cardiac surgery.

1997

Objectives: In adult patients, intramucosal pH (pHi) has been advocated to detect postoperative complications. The purpose of our study was to evaluate this technique in pediatric patients during and after cardiac surgery. Methods: Thirty-five infants (age: 5 days to 15 years, median 1.8 years; and weight: 3.2‐32 kg, median 9.8 kg) were studied. pHi was measured before cardiopulmonary bypass (CPB), after 30 min of CPB, prior to weaning off CPB, at intensive care unit arrival, and 6, 12, 24, 48 and 72 h after surgery. Results: There were no complications related to the tonometer. A pathologically low pHiB 7.32 was found during surgery in less than 17%, at intensive care unit arrival in 83% a…

Congenital pulmonary airway malformation in adult: report of two rare cases and literature review

2019

Congenital pulmonary airway malformations (CPAMs) are a heterogeneous group of congenital, non-hereditary lesions of the lung, cystic and non-cystic type with clear developmental anomalies and evident malformative changes, which derive from the excessive proliferation of the tubular bronchial structures. We described two rare cases of type IV CPAM detected in adult patients with different clinical presentation: one of these cases was symptomatic, complaining of cough and hemoptysis. Conversely, the other case was reported as incidental findings in patient with abdominal pain without respiratory symptoms. Chest computed tomography (CT) scan was performed showing voluminous cystic formations …

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.

2000

Vasopressin V2 receptor mutants from three different patients with congenital nephrogenic diabetes insipidus phenotypes were investigated after expression in COS cells. The amino acid exchanges within the human V2 receptor are located in the second extracellular loop (T204N, Y205C and V206D). Confocal microscopy showed that all receptor mutants were strongly expressed but mainly located within the cell. Residual binding capacity for the antidiuretic hormone arginine vasopressin (AVP) could only be detected for the T204N mutant and was 10-fold lower than for the wild-type receptor. Stimulation of transfected cells with 1 microM AVP showed that the T204N mutant was able to activate the adenyl…

Pulmonary hypertension in pediatrics. a feasible approach to bridge the gap between real world and guidelines

2019

Pulmonary hypertension (PH) is quite infrequent in pediatric age and its most common etiologies include idiopathic pulmonary arterial hypertension, PH related to congenital heart diseases, bronchopulmonary dysplasia (chronic lung disease), persistence of pulmonary hypertension of the newborn, and congenital diaphragmatic hernia. The developed for adult patients PH classification shows limitations when applied to pediatric subjects since the underlying causes are markedly different between the two ages. In 2011, the Pulmonary Vascular Research Institute Panama Task Force outlined the first specific pediatric pulmonary hypertensive vascular disease diagnostic classification, including 10 main…

Multiple Congenital Colonic Stenosis: Case Report and Review of the Literature

2015

Congenital malformations affecting the colon are rare pediatric conditions often presenting as obstruction. Colonic atresia accounts for 5-­‐10% of atresia in newborns, stenosis is even more rare.Since 1968, only 16 cases of CCS have been reported in literature (Table 1). Because of the rarity of the disease, little is known about this uncommon condition and management is still controversial. We present a case of multiple congenital colonic stenosis and review the literature with a special focus on management of CCS. To the authors' knowledge, multiple congenital colonic stenosis has not been reported previously in the literature.

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of thePediatric Clinic of Palermo

2014

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

2013

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Congenital diaphragmatic hernia and esophageal atresia: The importance of respiratory follow-up in congenital thoracic malformations

2013

Esophageal atresia, congenital diaphragmatic hernia, pulmonary function test, respiratory morbidity, Long-term follow-up