About 1,144 results

Cystic Fibrosis Colorectal Cancer Screening Consensus Recommendations.
Gastroenterology Hadjiliadis D, Khoruts A et. al.

Dec 31st, 2017 - Improved therapy has substantially increased survival of persons with cystic fibrosis (CF). But the risk of colorectal cancer (CRC) in adults with CF is 5-10 times greater compared to the general population, and 25-30 times greater in CF patients after an organ transplantation. To address this risk, the CF Foundation convened a multi-stakeholder task force to develop CRC screening recommendatio...

American College of Critical Care Medicine Clinical Practice Parameters for Hemodynamic Supp...
Davis AL.

May 31st, 2017 - OBJECTIVES: The American College of Critical Care Medicine provided 2002 and 2007 guidelines for hemodynamic support of newborn and pediatric septic shock. Provide the 2014 update of the 2007 American College of Critical Care Medicine "Clinical Guidelines for Hemodynamic Support of Neonates and Children with Septic Shock.

ACMG position statement on prenatal/preconception expanded carrier screening
Wayne W. Grody

Apr 24th, 2013 - For years, clinicians have offered gene-by-gene carrier screening to patients and couples considering future pregnancy or those with an ongoing pregnancy early in gestation. Examples include ethnic-specific screening offered to Ashkenazi Jewish patients and panethnic screening for cystic fibrosis and spinal muscular atrophy.

Cardiovascular Function and Treatment in Beta-Thalassemia Major
Pennell, D.,et al.

Jun 30th, 2013 - This aim of this statement is to report an expert consensus on the diagnosis and treatment of cardiac dysfunction in ?-thalassemia major (TM). This consensus statement does not cover other hemoglobinopathies, including thalassemia intermedia and sickle cell anemia, in which a different spectrum of cardiovascular complications is typical.

Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Ass...
Silberbach M

Sep 30th, 2018 - Girls and women with Turner syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided heart obstructive disease of varying severity, from hypoplastic left-sided heart syndrome to minimal aortic stenosis or coarctation of the aorta.

Clinical Practice Guidelines for the Care of Girls and Women With Turner Syndrome
Claus H. Gravholt

Oct 29th, 2017 - Turner syndrome affects 25–50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently.

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscula...

Feb 28th, 2018 - Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life.

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone ...

Mar 31st, 2018 - A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients' duration and quality of l.

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency man...

Apr 30th, 2018 - Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy (DMD) have been achieved through a multidisciplinary approach to management across a range of health-care specialties. In part 3 of this update of the DMD care considerations, we focus on primary care, emergency management, psychosocial care, and transitions of care across the lifespan.

Elimination of Perinatal Hepatitis B: Providing the First Vaccine Dose Within 24 Hours of Birth
American Academy of Pediatrics

Sep 29th, 2017 - After the introduction of the hepatitis B vaccine in the United States in 1982, a greater than 90% reduction in new infections was achieved. However, approximately 1000 new cases of perinatal hepatitis B infection are still identified annually in the United States.

Fragile X syndrome: Diagnostic and carrier testing
Stephanie Sherman

Sep 30th, 2005 - The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, convened to assist health care professionals in making decisions regarding genetic diagnosis and testing. The purpose of this document is to provide a brief overview of fragile X syndrome (FXS), and to make recommendations that can serve as general guidelines.

An Official American Thoracic Society Workshop Report 2015: Stem Cells and Cell Therapies in...
Darcy E. Wagner

Apr 30th, 2016 - The University of Vermont College of Medicine, in collaboration with the NHLBI, Alpha-1 Foundation, American Thoracic Society, Cystic Fibrosis Foundation, European Respiratory Society, International Society for Cellular Therapy, and the Pulmonary Fibrosis Foundation, convened a workshop, “Stem Cells and Cell Therapies in Lung Biology and Lung Diseases,” held July 27 to 30, 2015, at the Universi.

Duchenne Muscular Dystrophy (DMD)
Muscular Dystrophy Association (USA)

Jan 22nd, 2018 - Thanks to advances in many areas of medicine, such as cardiology and pulmonology, people with Duchenne muscular dystrophy in the 21st century are living longer than in previous decades, often well into adulthood. The use of available treatments can help maintain comfort and function and prolong life.

An official American Thoracic Society workshop report: optimal lung function tests for monit...
Margaret Rosenfeld

Mar 31st, 2013 - Although pulmonary function testing plays a key role in the diagnosis and management of chronic pulmonary conditions in children under 6 years of age, objective physiologic assessment is limited in the clinical care of infants and children less than 6 years old, due to the challenges of measuring lung function in this age range. Ongoing research in lung function testing in infants, toddlers, an.

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical G...
Watson, M.

Aug 31st, 2004 - In April 2001, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group recommended a panel of mutations and variants that should be tested to determine carrier status within the CFTR gene as a part of population screening programs. 1,2 This was initially done in response to the recommendations of an NIH CF Consensus Conference that CF carrier screenin.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedin...
Gravholt, C.

Aug 31st, 2017 - Turner syndrome affects 25–50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently.

Carrier screening for spinal muscular atrophy
Thomas W. Prior

Jul 31st, 2008 - The autosomal recessive disorder proximal spinal muscular atrophy (SMA, MIM #253300) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated prevalence of 1 in 10,000 live.

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Societ...
Phyllis W. Speiser

Aug 31st, 2010 - We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental.

Diagnosis, Risk Stratification, and Management of Pulmonary Hypertension of Sickle Cell Disease
Elizabeth S. Klings

Mar 14th, 2014 - Mortality risk stratification guides decision making. An increased risk for mortality is defined as a TRV equal to or greater than 2.

Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014

Aug 31st, 2014 - These guidelines were developed by an expert panel composed of health care professionals with expertise in family medicine, general internal medicine, adult and pediatric hematology, psychiatry, transfusion medicine, obstetrics and gynecology, emergency department nursing, and evidence-based medicine. Panel members were selected by the NHLBI’s leadership.