Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Apr 30th, 2022 - The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndro...

Jun 26th, 2021 - Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management...

Mar 13th, 2020 - AIUM Practice Parameter for the Performance of Neurosonography in Neonates and Infants.|2020||abnormalities,diagnostic imaging,congenital,diagnostic imaging,methods,

Nov 30th, 2019 - Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing...

May 28th, 2019 - To update Canadian maternity care and reproductive health care providers on the diagnostic criteria of fetal microcephaly and provide information on the relevant investigations, prognosis, and pre- and perinatal management of this prenatal finding. All maternity care (most responsible health provider [MRHP]) and pediatric providers; genetic counsellors; maternity nurses; nurse practitioners; pr...

Dec 28th, 2018 - 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.|2018|Kusumoto FM,Schoenfeld MH,Barrett C,Edgerton JR,Ellenbogen KA,|therapeutic use,etiology,complications,diagnosis,epidemiology,t...

Oct 3rd, 2018 - Congenital muscular torticollis (CMT) is a postural deformity evident shortly after birth, typically characterized by lateral flexion/side bending of the head to one side and cervical rotation/head turning to the opposite side due to unilateral shortening of the sternocleidomastoid muscle; it may be accompanied by other neurological or musculoskeletal conditions. Infants with CMT should be refe...

Feb 24th, 2018 - Spontaneous coronary artery dissection (SCAD) has emerged as an important cause of acute coronary syndrome, myocardial infarction, and sudden death, particularly among young women and individuals with few conventional atherosclerotic risk factors. Patient-initiated research has spurred increased awareness of SCAD, and improved diagnostic capabilities and findings from large case series have led...

May 6th, 2017 - The incidence of congenital heart disease (CHD) has been increasing in the adult patient population in part as a result of better patient survival. Patients with more severe CHD are living longer. Nearly all adults with known CHD require periodic imaging as a means of monitoring their disease process. Furthermore, adult patients with suspected CHD require imaging as a means of definitive diagno...

Dec 3rd, 2015 - To develop consensus recommendations for index congenital urological cases seen in adulthood and to generate discussion among providers who treat these patients across the lifespan. This manuscript reviews the proceedings and recommendations of the 2015 American Urological Association Working Group on Urological Congenitalism. Index cases were selected to highlight controversies in the manageme...

Mar 27th, 2015 - The American Thyroid Association appointed a Task Force of experts to revise the original Medullary Thyroid Carcinoma: Management Guidelines of the American Thyroid Association. The Task Force identified relevant articles using a systematic PubMed search, supplemented with additional published materials, and then created evidence-based recommendations, which were set in categories using criteri...

Feb 4th, 2015 - This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage ...

Nov 15th, 2013 - Prevention and treatment of thrombosis in pediatric and congenital heart disease: a scientific statement from the American Heart Association.|2013|Giglia TM,Massicotte MP,Tweddell JS,Barst RJ,Bauman M,|therapeutic use,prevention & control,therapy,complications,congenital,

Oct 12th, 2012 - Kidney Disease: Improving Global Outcomes (KDIGO) recently published the clinical practice guideline on glomerulonephritis (GN) to assist the practitioner caring for patients with GN. Chapter 4 of the guideline focuses on managing children aged 1-18 years with steroid-resistant nephrotic syndrome (SRNS), defined by an inability to achieve complete remission with corticosteroid therapy. Guidelin...

Apr 26th, 2012 - The objective of this ICCS standardization document is to report the initial diagnostic evaluation and subsequent work-up of children with neuropathic bladder dysfunction. Due to a paucity of level I or level II, "levels of evidence" publications, these recommendations are actually a compilation of best practices because they seem to be effective and reliable, although not with any control. Thr...

Apr 26th, 2012 - We present a consensus view of members of the International Children's Continence Society on the therapeutic intervention in congenital neuropatic bladder and bowel dysfunction in children. Discussions were held by a group of pediatric urologists and gastroenterologists appointed by the board. The following draft review document was open to all the ICCS members via the ICCS web site. Feedback w...

Oct 4th, 2011 - CMV is the most common congenital infection in newborns worldwide. Congenital CMV causes sensorineural hearing loss in a significant proportion of infected newborns, while the majority of newborns are asymptomatic. In the last three years there have been significant advances in the diagnosis and treatment of congenital CMV. We have developed practical evidence based guidelines for the managemen...

Jul 9th, 2011 - Capillary haemangioma or infantile haemangioma (IH) is the most common congenital vascular tumour in the periocular region. Several treatment modalities have been documented, with variable degree of success. Propranolol has recently been reported to be an effective and safe alternative. The aim of this systematic review is to examine the evidence base for the use of propranolol administered ora...

Dec 3rd, 2010 - The Union of European Neonatal and Perinatal Societies, worried for the lack of unanimous guidelines in the ethical domain, propose a 10-point charter about the ethical rights of the newborns. It is complementary to other charters, such as the United Nations charter of children's rights, but it adds some specific and debated points, to find a common denominator, hopefully useful to the ongoing ...