Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cardiac catheterization in children with pulmonary hypertensive vascular disease:Consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces

Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD.</p

Cystic fibrosis: presentation with other diseases, the experience in Saudi Arabia

AbstractSimultaneous occurrence of Cystic fibrosis and other inherited diseases or congenital anomalies has been rare. This association has never been described before in the Arab population. In this report we describe the first report on cystic fibrosis in association with other diseases in the same patient such as sickle cell disease, Insulin dependant Diabetes mellitus, congenital adrenal hyperplasia, cardiac anomalies in twins and Ehler's Danlos syndrome. We also evaluate their effects on CF patients and review the literature in this aspect

A review of 151 cases of pediatric noncystic fibrosis bronchiectasis in a tertiary care center

<b>Objective: </b> This study was conducted to review the etiological factors and diseases associated with pediatric noncystic fibrosis bronchiectasis in a tertiary care center in Saudi Arabia. <b> Materials and Methods:</b> A retrospective review of all patients with confirmed noncystic fibrosis (Non-CF) bronchiectasis by chest X-ray and/or CT chest in a pulmonary clinic during the period 1993-2005 at a tertiary care center in Riyadh. <b> Results: </b> A total of 151 cases were diagnosed as Non-CF bronchiectasis. Seventy-five (49.7&#x0025;) were male, 76 (50.3&#x0025;) were female; 148 (98&#x0025;) are alive and 3 (2&#x0025;) died. The southwestern regions constituted 72 (50&#x0025;) of the cases. There was a period of (5 &#x00B1; 3.2) years between the start of symptoms and diagnosis of bronchiectasis. More than two-thirds of the patients had cough, tachypnea, wheezing, sputum production and failure to thrive. Ninety-one (60&#x0025;) had associated diseases: Pulmonary diseases in 48 (32&#x0025;), immunodeficiency in 27 (18&#x0025;), central nervous system anomalies in 10 (7&#x0025;), cardiac in 10 (7&#x0025;) and asthma in 103 (68&#x0025;) of the patients. Left lower lobe was commonly involved in 114 (76&#x0025;) patients. Sixty-eight (67&#x0025;) were found to have sinusitis. More than two-thirds of patients had two or more associated diseases. Forty-nine (32&#x0025;) developed gastroesophageal reflux. Hemophilus influenza was cultured in 56 (37&#x0025;), strept pneumoniae in 25 (17&#x0025;) and pseudomonas aeruginosa in 24 (16&#x0025;) of the patients. Eighty percent of the patients who had pulmonary function test had abnormal changes. Disease progression was related to development of symptoms before 5 years of age, persistent atelectasis and right lower lobe involvement (<i> P</i> &lt; 0.05). <b> Conclusion:</b> Non-CF bronchiectasis should be included in the differential diagnosis of recurrent chest infection in Saudi Arabia. Early diagnosis and identification of associated diseases is needed to prevent progression of the disease

Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature

Introduction: Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature.Objective: To find the prevalence of double homozygous in our Cf population and to describe their mutations and review of the literature in this phenomenon.Methodology: A case series and a review of the literature from 1989-2020 for similar phenomenon.Results: A total of 396 patients (312 families) confirmed CF that were positive for the cystic fibrosis transmembrane conductance regulator (CFTR) variants from January 1998 to December 2018. A total of four families that constitute 4 patients were positive for double homozygous CFTR mutations in Trans position status. All parents were first-degree cousins. Their clinical pictures were of the severe type in relation to chest disease and failure to thrive. Family screening showed that 7 family members were carriers with double heterozygous mutations in Cis position. The Prevalence of double homozygous CFTR mutation in our study is 4/312 families or 1-2:100 families which is the highest that has been reported in the medical literature. Literature review showed only 2 cases of double homozygous were reported in 1995 and 2017.&nbsp;Conclusion: Double homozygous CFTR mutations are common in the Saudi population due to consanguinity. Proper and extended genetic counseling is needed for the same family and their relatives to prevent similar conditions.</p

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia

The first cases of a rare double homozygosity of two different mutations in the cystic fibrosis trans-regulator gene (CFTR) of a cystic fibrosis patient in Saudi Arabia. Details of the family screening and a review of the literature on similar cases are discussed