A Clinical and Molecular Genetic Study in 11 Chinese Children With Peutz-Jeghers Syndrome

Conclusions: MLPA plus direct sequencing revealed large genomic deletions of STK11 gene in Chinese children with PJS and increased the detecting rate of STK11 gene mutations in Chinese patients with PJS. MLPA combined with direct sequencing could serve as a better strategy for the genetic diagnosis of PJS in Chinese population.
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Gastroenterology Source Type: research

Related Links:

ConclusionIn women with endometrial polyps, the prevalence of CE in infertile women is higher than that in fertile women. Pregnancy outcome in infertile women with treated CE was similar to those who were infertile and without CE.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Publication date: Available online 19 September 2019Source: The LancetAuthor(s): Whitney W Stevens
Source: The Lancet - Category: General Medicine Source Type: research
Publication date: Available online 19 September 2019Source: The LancetAuthor(s): Claus Bachert, Joseph K Han, Martin Desrosiers, Peter W Hellings, Nikhil Amin, Stella E Lee, Joaquim Mullol, Leon S Greos, John V Bosso, Tanya M Laidlaw, Anders U Cervin, Jorge F Maspero, Claire Hopkins, Heidi Olze, G Walter Canonica, Pierluigi Paggiaro, Seong H Cho, Wytske J Fokkens, Shigeharu Fujieda, Mei ZhangSummaryBackgroundPatients with chronic rhinosinusitis with nasal polyps (CRSwNP) generally have a high symptom burden and poor health-related quality of life, often requiring recurring systemic corticosteroid use and repeated sinus sur...
Source: The Lancet - Category: General Medicine Source Type: research
Publication date: Available online 19 September 2019Source: Annals of Medicine and SurgeryAuthor(s): Ayad Ahmad MohammedAbstractGall bladder polyps occur in 0.4% of patients undergoing cholecystectomy, the majority of gall bladder polyps are benign, they are classified into 3 types: epithelial or adenomatous polyps, mesenchymal polyps, and pseudopolyps. Gall bladder polys mostly affect females and those more than 50 years of age. Ultrasound is a very sensitive tool in the diagnosis.An 88-year-old woman presented with epigastric pain and right hypochondrial pain, fever, and vomiting for 1 week. Clinical examination showed j...
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
BackgroundRecently, there has been mounting evidence suggesting the efficacy of steroid ‐eluting stents (SES) for management of chronic rhinosinusitis after endoscopic sinus surgery (ESS). This meta‐analysis serves to evaluate the efficacy of SES in improving postoperative outcomes after ESS.MethodsA systematic literature search was performed of PubMed for articles published between 1985 and 2018. The outcome variables were reported at, on average, 30 days postintervention.ResultsSeven of the 76 published studies, all of which were industry ‐sponsored, were included for a collective cohort of 444 SES and 444 control ...
Source: International Forum of Allergy and Rhinology - Category: Allergy & Immunology Authors: Tags: REVIEW ARTICLE Source Type: research
We describe the prevalence of colorectal adenomas determined by a single high detecting colonoscopist using high definition colonoscopes.
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Digestive Endoscopy Source Type: research
Authors: Gutta A, Gromski MA Abstract Post-polypectomy bleeding (PPB) is one of the most common complications of endoscopic polypectomy. There are multiple risk factors related to patient and polyp characteristics that should be considered. In most cases, immediate PPB can be effectively managed endoscopically when recognized and managed promptly. Delayed PPB can manifest in a myriad of ways. In severe delayed PPB, resuscitation for hemodynamic stabilization should be prioritized, followed by endoscopic evaluation and therapy once the patient is stabilized. Future areas of research in PPB include the risks of direc...
Source: Clinical Endoscopy - Category: Gastroenterology Tags: Clin Endosc Source Type: research
Chronic rhinosinusitis is a long-lasting medical condition, usually caused by infection or exposure to irritants, such as allergies, that affects one in seven American adults. Symptoms include nasal obstruction, nasal congestion, nasal drainage, loss of smell and taste, and facial pain and pressure. Some people with chronic rhinosinusitis also develop additional symptoms, such as asthma and nasal polyps, that are exacerbated by underlying allergies. A nasal polyp is a noncancerous tumor that grows from the lining of the nose or sinuses and affects the drainage system of the sinuses. While chronic rhinosinusitis is not a li...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Allergies Cold and Flu Drugs and Supplements Ear, nose, and throat Health Source Type: blogs
ConclusionsIntrauterine Bigatti Shaver® is a feasible technique for placental remnants removal. Further studies comparing various surgical treatment are needed to define which technique is the safest and completely remove placental remnants.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
Source: Techniques in Coloproctology - Category: Surgery Source Type: research
More News: Children | Gastroenterology | Genetics | Nutrition | Pediatrics | Polyps | Study