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Peutz-Jeghers Syndrome

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1. Peutz-Jeghers syndrome

%. Unusual genital tract tumours may occur. Patients require lifelong cancer surveillance with prophylactic polypectomy. Small bowel obstruction is a frequent complication; up to 70% of individuals require laparotomy for small bowel obstruction by the age of 18 years. Definition Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disorder characterised by hamartomatous polyposis caused by germline mutations in the STK11 (LKB1) gene. Mutations are found in about 93% of individuals with PJS, and may (...) Peutz-Jeghers syndrome Peutz-Jeghers syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Peutz-Jeghers syndrome Last reviewed: February 2019 Last updated: January 2019 Summary Peutz-Jeghers syndrome is associated with an increased risk of intestinal cancer (e.g., colorectal and small bowel) and extra-intestinal cancer (e.g., breast, pancreas). The lifetime risk for developing cancer is estimated to be up to 93

2019 BMJ Best Practice

2. Peutz-Jeghers syndrome

%. Unusual genital tract tumours may occur. Patients require lifelong cancer surveillance with prophylactic polypectomy. Small bowel obstruction is a frequent complication; up to 70% of individuals require laparotomy for small bowel obstruction by the age of 18 years. Definition Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disorder characterised by hamartomatous polyposis caused by germline mutations in the STK11 (LKB1) gene. Mutations are found in about 93% of individuals with PJS, and may (...) Peutz-Jeghers syndrome Peutz-Jeghers syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Peutz-Jeghers syndrome Last reviewed: February 2019 Last updated: January 2019 Summary Peutz-Jeghers syndrome is associated with an increased risk of intestinal cancer (e.g., colorectal and small bowel) and extra-intestinal cancer (e.g., breast, pancreas). The lifetime risk for developing cancer is estimated to be up to 93

2018 BMJ Best Practice

3. Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene. Full Text available with Trip Pro

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene. Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication.A boy without a positive family history

2019 BMC Gastroenterology

4. Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report. Full Text available with Trip Pro

Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report. Peutz-Jeghers syndrome (PJS) is currently defined as an inherited condition, also called a familial hamartomatous polyposis syndrome, characterized by the association between pigmented mucocutaneous lesions and hamartomatous polyps in the gastrointestinal tract, especially in the small bowel.We present the case of a 7-year-old male patients, diagnosed at the age of 3 years with PJS due (...) to a surgical intervention for acute abdominal pain that revealed a rectal polyp associated with hyperpigmented maculae on the lips and oral mucosa. His family history revealed the same condition in his mother, who was diagnosed much later, at the age of 25 years.The upper and lower digestive endoscopy revealed multiple polyps of different sizes within the stomach, and 2 polyps at 5 cm from the anal orifice. The barium enterography revealed 3 polyps within the ileum.We administered blood transfusions

2019 Medicine

5. Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits Full Text available with Trip Pro

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in the jejunum. This patient shows some unique aspects of PJS. No other such large gastric polyp in a Peutz-Jeghers child is reported in the literature. The large size of the gastric polyp

2018 Case reports in surgery

6. Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature Full Text available with Trip Pro

Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary cause of PJS. However, must a patient with PJS have the LKB1/STK11 gene mutation? We here report a case (...) disorders may cause PJS besides LKB1/STK11 gene mutation.

2018 World journal of clinical cases

7. The patients with Peutz-Jeghers syndrome have a high risk of developing cancer Full Text available with Trip Pro

The patients with Peutz-Jeghers syndrome have a high risk of developing cancer Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, and intestinal and extraintestinal multiple hamartomatous polyps. Development of gastrointestinal and extragastrointestinal cancer risk is markedly increased in patients with Peutz-Jeghers syndrome. We analyzed five patients from two families diagnosed with Peutz-Jeghers syndrome between 1999 and 2012 (...) . This study confirms the actual malignancy potency of PJS. Therefore, we suggest a close follow-up of patients with Peutz-Jeghers syndrome for the risk of malignancy.

2018 Turkish Journal of Surgery

8. The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. Full Text available with Trip Pro

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.PJS probands with STK11 mutation were included in the function analysis. P53 activity elevated by STK11 mutants was investigated using dual-luciferase reporter assay in vitro after constructing expression vectors of STK11

2018 BMC Medical Genetics

9. Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. Full Text available with Trip Pro

Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis (...) , the STK11 exon 1 deletion (c.-1114-?_290 +?del) was predicted to affect the kinase domain of the protein and co-segregated with the disease phenotype. The same mutation was detected in the fetus and genetic sequencing and MLPA of the infant's DNA and the pigmentation on his lips confirmed the result of prenatal testing. To the best of our knowledge, this is the first report on PJS prenatal diagnosis of a PJS family in China.An accurate and convenient PJS prenatal testing provides an opportunity

2018 BMC Medical Genetics

10. Clinical and Genetic Study of children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation. (Abstract)

Clinical and Genetic Study of children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation. The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics.In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral

2018 Journal of Pediatric Gastroenterology and Nutrition

11. Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome Full Text available with Trip Pro

Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome 29916499 2018 06 19 2468-4481 3 4 2018 Apr VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy VideoGIE Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome. 119-120 10.1016/j.vgie.2018.01.012 Miyasako Yuki Y Department of Gastroenterology, National Hospital Organization, Kure Medical Center

2018 VideoGIE

12. Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl. Full Text available with Trip Pro

Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl. Peutz-Jeghers syndrome (PJS) is a Mendelian disease characterized by gastrointestinal hamartomas, mucocutaneous pigmentation (MP), and increased cancer risk. Serine/threonine kinase 11 (STK11) is the only validated causative gene in PJS. Clinical observation reveals MP

2018 BMC Surgery

13. Management of Peutz-Jeghers syndromes in children and adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. Full Text available with Trip Pro

Management of Peutz-Jeghers syndromes in children and adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. Peutz-Jeghers syndrome (PJS) is a well-described inherited syndrome, characterized by the development of gastrointestinal polyps, and characteristic mucocutaneous freckling. Development of small bowel intestinal polyps may lead to intussusception in children may require emergency laparotomy with potential loss of bowel. Gastrointestinal polyps may lead to bleeding (...) and in the absence of evidence, recommendations reflect the opinion of pediatric and adult experts involved in the care of polyposis syndromes. Because many of the studies that form the basis for the recommendations were descriptive and/or retrospective in nature, some of the recommendations are based on expert opinion. This position paper will be helpful in the appropriate management and timing of procedures in children and adolescents with PJS.

2018 Journal of Pediatric Gastroenterology and Nutrition

14. Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity Full Text available with Trip Pro

Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity Peutz-Jeghers syndrome is an autosomal dominant inherited medical condition characterized by hyperpigmented mucocutaneous macules, hamartomatous polyps in the digestive tract, and with a greater risk of gastrointestinal and non-gastrointestinal cancers. In fact, without appropriate medical surveillance, the lifetime risk for all cancers combined may be as high as 93%. The syndrome is rare, with estimates of incidence (...) varying between 1 in 8,300 and 1 in 280,000 live births. Infrequently, individuals present for the first time with bowel obstruction secondary to intussusception. Here, we present an interesting case of a young Burmese man who, early on, showed traits of Peutz-Jeghers syndrome, including the characteristic hyperpigmented areas on the fingers and lips. Unfortunately, the diagnosis was not made until he later developed bowel obstruction caused by an intussusception, requiring exploratory laparoscopic

2018 Gastroenterology research

15. Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome Full Text available with Trip Pro

Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited condition characterized by hamartomatous gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition for malignancy. Most patients with PJS are diagnosed in the second or third decade of life, and commonly have intussusception as a complication. This report describes an unusual case of a 2-year-old male known

2018 Radiology Case Reports

16. Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. (Abstract)

Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disorder, caused by germline mutations in the LKB1 tumour suppressor gene. It is clinically characterised by distinct perioral mucocutaneous pigmentations, gastrointestinal polyposis and an increased cancer risk in adult life. Hamartomatous polyps can develop already in the first decade of life and may cause various complications (...) surveillance of the pancreatic region by MRI or endoscopic ultrasound. In addition, breast and gynaecological surveillance is recommended for female patients. Although the genetic defect underlying PJS is known, the pathogenesis of hamartomas and carcinomas is unclear. More insight into the molecular background of PJS might lead to targeted therapies for patients with this syndrome.

2017 British Dental Journal

17. Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. Full Text available with Trip Pro

Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.We reported an isolated PJS patient who died of colon

2017 BMC Medical Genetics

18. A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. Full Text available with Trip Pro

A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. Peutz-Jeghers syndrome (PJS) is a Mendelian autosomal dominant disease caused by mutations in the tumor suppressor gene, serine/threonine kinase 11 (STK11). The features of this syndrome include gastrointestinal (GI) hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer. Early onset of disease is often characterized by mucocutaneous

2017 Medicine

19. Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. Full Text available with Trip Pro

Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. Using narrow-band imaging (NBI), the micro morphology of polyp surfaces was visualized at high resolution when the contrast between the lesions and the surrounding tissue areas was intensified. The objective of the study was to compare NBI and conventional white light endoscopy (C-WLI) for diagnostic efficacy and treatment of children (...) with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant-genetic disease.We retrospectively analyzed the clinical data of 18 patients diagnosed with PJS and 72 diagnosed with juvenile polyps during the same time period. Endoscopy was used to observe the morphology of polyps, which were classified according to the Kudo pit pattern. Eighty-two and 76 polyps were resected using endoscopy from PJS and juvenile polyp patients, respectively, and pathologically examined for comparison with NBI or C-WLI

2017 Medicine

20. Two novel STK11 missense mutations induce phosphorylation of S6K and promote cell proliferation in Peutz-Jeghers syndrome Full Text available with Trip Pro

Two novel STK11 missense mutations induce phosphorylation of S6K and promote cell proliferation in Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is a rare hereditary disease caused by mutations in serine threonine kinase 11 (STK11) and characterized by an increased risk of developing cancer. Inactivation of STK11 has been associated with the mammalian target of rapamycin (mTOR) pathway. Hyperactivation and phosphorylation of the key downstream target genes ribosomal protein S6 kinase 1

2017 Oncology letters

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