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Peutz-Jeghers Syndrome

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1. Peutz-Jeghers syndrome

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 (...) %. 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

2019 BMJ Best Practice

2. Peutz-Jeghers syndrome

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 (...) %. 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

2018 BMJ Best Practice

3. Gastric-type cervical adenocarcinoma in Peutz-Jeghers syndrome

Gastric-type cervical adenocarcinoma in Peutz-Jeghers syndrome Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation (e.g. "Dr

2019 PROSPERO

4. Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene. (PubMed)

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

5. Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report. (PubMed)

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

2019 Medicine

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

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

7. The patients with Peutz-Jeghers syndrome have a high risk of developing cancer (PubMed)

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.

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2018 Turkish Journal of Surgery

8. Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity (PubMed)

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

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2018 Gastroenterology research

9. Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome (PubMed)

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

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2018 Radiology Case Reports

10. Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature (PubMed)

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

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2018 World journal of clinical cases

11. Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits (PubMed)

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

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2018 Case reports in surgery

12. The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. (PubMed)

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

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2018 BMC Medical Genetics

13. Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome (PubMed)

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

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2018 VideoGIE

14. Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. (PubMed)

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

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2018 BMC Medical Genetics

15. 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. (PubMed)

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

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2018 BMC Surgery

16. Management of Peutz-Jeghers syndromes in children and adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. (PubMed)

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

17. A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. (PubMed)

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

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2017 Medicine

18. 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. (PubMed)

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

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2017 BMC Medical Genetics

19. Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. (PubMed)

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

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2017 Medicine

20. Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. (PubMed)

Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum.A further family history

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2017 Medicine

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