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Peutz Jeghers syndrome

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https://www.readbyqxmd.com/read/28346429/deletion-of-endothelial-cell-specific-liver-kinase-b1-increases-angiogenesis-and-tumor-growth-via-vascular-endothelial-growth-factor
#1
W Zhang, Y Ding, C Zhang, Q Lu, Z Liu, K Coughlan, I Okon, M-H Zou
Liver kinase B1 (LKB1) is a serine/threonine protein kinase ubiquitously expressed in mammalian cells. It was first identified in Peutz-Jeghers syndrome as a tumor suppressor gene. Whether endothelial LKB1 regulates angiogenesis and tumor growth is unknown. In this study, we generated endothelial cell-specific LKB1-knockout (LKB1(endo-/-)) mice by crossbreeding vascular endothelial-cadherin-Cre mice with LKB1(flox/flox) mice. Vascular endothelial growth factor (VEGF) level was highly co-stained in endothelial cells but not in macrophages in LKB1(endo-/-) mice...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28321345/a-patency-capsule-remained-intact-in-the-colon-over-210-hours
#2
Yu Hihara, Satoru Joshita, Toshiharu Takahashi, Shinji Okaniwa, Yoshiki Mizukami, Yoshiyuki Nakamura
We present an unusual case of a 35-year-old male patient whom a patency capsule stayed in his gut without breaking. He has a history of Peutz-Jeghers syndrome and multiple abdominal surgeries. Prestudy was performed for abdominal searching, but a patency capsule remained in the colon over 9 days. He displayed neither abdominal nor obstructive symptoms in that period. We collected the patency capsule using colonoscopy after dilating a postoperative stricture at an anastomotic site of the rectum. Clinicians should bear in mind that patency capsules may become retained as distally as the colon in patients with a surgical history of the large intestine...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28319601/effectiveness-of-double-balloon-enteroscopy-facilitated-polypectomy-in-paediatric-patients-with-peutz-jeghers-syndrome
#3
Dalia Belsha, Arun Urs, Thomas Attard, Mike Thomson
BACKGROUND: Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative-enteroscopy (IOE). This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. METHODS: Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center...
March 17, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28314199/unusual-ultrasound-appearance-of-small-bowel-intussusception-and-secondary-bowel-obstruction-in-a-child-with-peutz-jeghers-syndrome
#4
Lei Wu, Ramesh S Iyer, George T Drugas, A Luana Stanescu
Small bowel intussusception (SBI) in pediatric patients resolves spontaneously in the majority of cases. Pathologic small bowel intussusception with a lead point is rare in children. Ultrasound (US) is the preferred initial imaging study for the diagnosis of intussusception. We report a case of long-segment SBI and secondary bowel obstruction caused by a large hamartomatous polyp. This case emphasizes unique, atypical ultrasound findings that may be encountered in small bowel intussusception, with correlative radiographic, CT (computed tomography) and intra-operative findings...
March 9, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28246467/familial-pancreatic-cancer-concept-management-and-issues
#5
REVIEW
Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Hiroyuki Maguchi, Masamichi Mizuma, Hideaki Takahashi, Keita Wada, Hiroko Hosoi, Shinichi Yachida, Masami Suzuki, Risa Usui, Toru Furukawa, Junji Furuse, Takamitsu Sato, Makoto Ueno, Yoshimi Kiyozumi, Susumu Hijioka, Nobumasa Mizuno, Takeshi Terashima, Masaki Mizumoto, Yuzo Kodama, Masako Torishima, Takahisa Kawaguchi, Reiko Ashida, Masayuki Kitano, Keiji Hanada, Masayuki Furukawa, Ken Kawabe, Yoshiyuki Majima, Toru Shimosegawa
Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest...
February 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28212152/an-update-on-small-bowel-endoscopy
#6
Hey-Long Ching, Mark E McAlindon, Reena Sidhu
PURPOSE OF REVIEW: The breakthrough success of capsule endoscopy and device-assisted enteroscopy has inspired researchers to test and push the boundary of these technologies. The authors herein summarize the latest and most significant studies with clinical impact. RECENT FINDINGS: Competing capsule endoscopy models have enriched the platform of this wireless device. The role of capsule endoscopy in Crohn's disease is expanding as we learn more of the significance of disease distribution and response to treatment...
February 15, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28185117/a-lesson-from-a-reported-pathogenic-variant-in-peutz-jeghers-syndrome-a-case-report
#7
Hu Tan, Xianda Wei, Pu Yang, Yanru Huang, Haoxian Li, Desheng Liang, Lingqian Wu
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11) are the major cause of PJS. In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28184053/gastrointestinal-diseases-and-their-oro-dental-manifestations-part-4-peutz-jeghers-syndrome
#8
S E Korsse, M E van Leerdam, E Dekker
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, including abdominal pain, bleeding, anaemia, and acute intestinal obstruction. Furthermore, patients have an increased risk for developing cancer, both in the gastrointestinal tract as in other organs...
February 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28133246/-a-family-with-peutz-jeghers-syndrome-having-various-malignant-diseases
#9
Toshiro Ogura, Toru Ishiguro, Yu Muta, Minoru Fukuchi, Tomonori Nagai, Youichi Kumagai, Keiichiro Ishibashi, Erito Mochiki, Hideyuki Ishida
We report a 27-year-old female who was diagnosed with adenocarcinoma of the uterine cervix associated with Peutz- Jeghers syndrome(PJS). She had undergone 5 surgeries for intestinal intussusception and had been diagnosed with PJS. She was referred to our hospital, complaining of watery vaginal discharge, and was diagnosed with adenocarcinoma of the uterine cervix. Following neoadjuvant chemotherapy, radical hysterectomy and small intestinal polypectomy by intraoperative endoscopy were performed. Among the third-degree relatives of her family, 10 had been diagnosed with PJS; of these 10, uterine cervical adenocarcinoma occurred in 3 relatives, pancreatic cancer in 2, cholangiocellular carcinoma in 1, and colon cancer in 1...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#10
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28107734/patient-and-medical-barriers-preclude-uptake-of-tamoxifen-preventative-therapy-in-women-with-a-strong-family-history
#11
Anita R Skandarajah, Susan Thomas, Kylie Shackleton, Laura Chin-Lenn, Geoffrey J Lindeman, G Bruce Mann
AIMS: To assess the eligibility, uptake and impediments to tamoxifen use in high-risk women attending a risk management clinic due to family history. PATIENTS AND METHODS: All patients with a germline mutation in a cancer predisposing gene or at high genetic risk (based on family history) attending a Breast and Ovarian cancer risk management clinic from February 2014 to May 2015 received both verbal and written evidence-based information on preventive therapy and were recommended to consider endocrine prevention if not contraindicated...
April 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28101370/recurrent-ovarian-sertoli-leydig-cell-tumor-in-a-child-with-peutz-jeghers-syndrome
#12
Edward J Bellfield, Ramin Alemzadeh
We present a female child with Peutz-Jeghers syndrome (PJS) with a recurrent ovarian Sertoli-Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in a child with PJS to have a recurrent ovarian SLCT...
August 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28062068/cervical-minimal-deviation-adenocarcinoma-in-peutz-jeghers-syndrome
#13
J Kenneth Schoolmeester, Lori A Erickson
No abstract text is available yet for this article.
January 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27999885/multidetector-ct-enterography-of-focal-small-bowel-lesions-a-radiological-pathological-correlation
#14
REVIEW
Farnoosh Sokhandon, Sayf Al-Katib, Lawrence Bahoura, Alexander Copelan, Daniel George, Dominic Scola
Focal small bowel lesions present a diagnostic challenge for both the radiologist and gastroenterologist. Both the detection and characterization of small bowel masses have greatly improved with the advent of multidetector CT enterography (MD-CTE). As such, MD-CTE is increasingly utilized in the workup of occult gastrointestinal bleeding. In this article, we review the spectrum of focal small bowel masses with pathologic correlation. Adenocarcinoma, the most common primary small bowel malignancy, presents as a focal irregular mass occasionally with circumferential extension leading to obstruction...
December 20, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#15
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#16
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27894106/prader-willi-syndrome-due-to-an-unbalanced-de-novo-translocation-t-15-19-q12-p13-3
#17
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold, Virginia E Kimonis
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27873740/response-to-the-anastrozole-treatment-in-a-case-with-peutz-jeghers-syndrome-who-was-detected-to-have-large-cell-calcifying-sertoli-cell-tumor-and-developed-pre-pubertal-gynecomastia
#18
Merve Koç Yekedüz, Zeynep Şıklar, Berk Burgu, Zarife Kuloğlu, Pınar Kocaay, Emine Çamtosun, Mehmet İsakoca, Aydan Kansu, Tarkan Soygür, Merih Berberoğlu
Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Calcifying Sertoli Cell Tumor (LCCSCT) is a kind of sex cord-stromal tumor, often bilateral and multifocal, accounting for 0.4 -1.5% of entire testicular tumors which may co-exist with PJS and is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy...
November 22, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27858560/ovarian-sex-cord-stromal-tumors
#19
Kris Ann P Schultz, Anne K Harris, Dominik T Schneider, Robert H Young, Jubilee Brown, David M Gershenson, Louis P Dehner, D Ashley Hill, Yoav H Messinger, A Lindsay Frazier
Ovarian sex cord-stromal tumors are clinically significant heterogeneous tumors that include several pathologic types. These tumors are often found in adolescents and young adults and can present with hormonal manifestations as well as signs and symptoms of a pelvic mass. Serum tumor markers may assist in preoperative diagnosis and surveillance. Several subtypes are associated with genetic predisposition, including those observed in patients with Peutz-Jegher syndrome. Recent studies have elucidated the relationship between Sertoli-Leydig cell tumors and DICER1 mutations...
October 2016: Journal of Oncology Practice
https://www.readbyqxmd.com/read/27821076/three-novel-mutations-of-stk11-gene-in-chinese-patients-with-peutz-jeghers-syndrome
#20
Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang, Lingqian Wu
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine-threonine kinase 11 gene (SKT11) are the major cause of PJS. CASE PRESENTATION: Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay...
November 8, 2016: BMC Medical Genetics
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