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https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#1
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938700/liver-cancers-with-stem-progenitor-cell-features-a-rare-chemotherapy-sensitive-malignancy
#2
Bruno Christian Köhler, Nina Waldburger, Kai Schlamp, Dirk Jäger, Karl Heinz Weiss, Henning Schulze-Bergkamen, Peter Schirmacher, Christoph Springfeld
Primary liver tumors are a heterogeneous group of malignancies. Besides classical hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC), combined and intermediate forms of liver cancer exist and can express stem-cell markers like nuclear cell adhesion molecule (NCAM-1/CD56), c-kit (CD117) or epithelial cell adhesion molecule (EpCAM) together with high proliferative activity. Liver tumors with progenitor-cell features are associated with an unfavorable prognosis, but the phenotype has not resulted in therapeutic consequences so far...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938699/change-from-lung-adenocarcinoma-to-small-cell-lung-cancer-as-a-mechanism-of-resistance-to-afatinib
#3
Paolo Manca, Marco Russano, Francesco Pantano, Giuseppe Tonini, Daniele Santini
We report the case of a patient affected by advanced EGFR mutation-positive lung who experienced resistance to therapy during treatment with Afatinib through the occurrence of a switch of tumor histotype to small cell lung cancer (SCLC) with features of a G3 neuroendocrine carcinoma. Unexpectedly, the switch to SCLC histotype occurred in the only site not responsive to afatinib and subsequently the most responsive to chemotherapy. Our case shows that occurrence of switch to SCLC is a possible mechanism of resistance during treatment with Afatinib...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938691/concomitant-eml4-alk-rearrangement-and-egfr-mutation-in-non-small-cell-lung-cancer-patients-a-literature-review-of-100-cases
#4
REVIEW
Giuseppe Lo Russo, Martina Imbimbo, Giulia Corrao, Claudia Proto, Diego Signorelli, Milena Vitali, Monica Ganzinelli, Laura Botta, Nicoletta Zilembo, Filippo de Braud, Marina Chiara Garassino
The discovery of EGFR mutations and EML4-ALK gene rearrangements has radically changed the therapeutic scenario for patients with advanced non-small cell lung cancer. ALK and EGFR tyrosine-kinase inhibitors showed better activity and efficacy than standard chemotherapy in the first and second line treatment settings, leading to a clear advantage in overall survival of advanced non-small cell lung cancer patients harboring these genetic alterations. Historically the coexistence of EGFR mutations and EML4-ALK rearrangements in the same tumor has been described as virtually impossible...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938685/a-case-control-study-of-the-association-between-the-egfr-gene-and-glioma-risk-in-a-chinese-han-population
#5
Mengdan Yan, Jingjie Li, Na He, Xugang Shi, Shuli Du, Bin Li, Tianbo Jin
The Epidermal Growth Factor Receptor gene has been reported to be involved in the progression of gliomas which is one of the deadliest primary brain tumors in humans. To determine potential association between EGFR and glioma risk, we performed a case-control study with 394 glioma patients and 298 cancer-free controls in which captured a total of 8 tag single nucleotide polymorphisms of EGFR gene from Xi'an, China. SPSS 19.0 statistical packages, χ(2) test, genetic model analysis and SHEsis software platform were analyzed s the variants in EGFR gene associations with glioma risk...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938668/systematic-review-and-meta-analysis-cholecystectomy-and-the-risk-of-cholangiocarcinoma
#6
Jianping Xiong, Yaqin Wang, Hanchun Huang, Jin Bian, Anqiang Wang, Junyu Long, Ying Zheng, Xinting Sang, Yiyao Xu, Xin Lu, Haitao Zhao
Studies have reported that cholecystectomy may increase the risk of cholangiocarcinoma. However, this association is controversial. Thus, we conducted a systematic review and meta-analysis to explore the relationship between cholecystectomy and the risk of cholangiocarcinoma. Relevant studies were identified by searching PubMed, EMBASE, ISI Web of Science published before February 2017. We used the random effects model proposed by DerSimonian and Laird to quantify the relationship between cholecystectomy and risk of cholangiocarcinoma...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938666/general-anesthesia-exposure-and-risk-of-dementia-a-meta-analysis-of-epidemiological-studies
#7
Jingjing Jiang, Yunxia Dong, Wei Huang, Min Bao
The association between exposure to general anesthesia and dementia risk has been inconsistently reported across epidemiological studies. To better understand the association, we conducted a meta-analysis of epidemiological studies. PubMed and Embase were searched through April 2017. Random-effects models were used to pool association estimates. We further evaluated potential dose-response relationship. Based on literature search, seven prospective/cohort studies, 11 case-control studies, and a pooled analysis of six case-control studies were identified...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938654/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-the-risks-of-polycystic-ovary-syndrome-an-updated-meta-analysis-of-14-studies
#8
Lihong Wang, Wenting Xu, Caihong Wang, Mengyu Tang, Yujia Zhou
Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938557/the-p-g534e-variant-of-habp2-is-not-associated-with-sporadic-papillary-thyroid-carcinoma-in-a-polish-population
#9
Artur Kowalik, Danuta Gąsior-Perczak, Martyna Gromek, Monika Siołek, Agnieszka Walczyk, Iwona Pałyga, Małgorzata Chłopek, Janusz Kopczyński, Ryszard Mężyk, Aldona Kowalska, Stanisław Góźdź
Thyroid cancer is one of the most frequently diagnosed cancers of the endocrine system. There are no known genetic risk factors for non-medullary thyroid cancer, other than a small number of hereditary syndromes; however, approximately 5% of non-medullary thyroid cancer, designated familial non-medullary thyroid cancer, exhibits heritability. The p.G534E (c.1601G>A) variant of HABP2 was recently reported as a risk factor for familial non-medullary thyroid cancer, including papillary thyroid carcinoma. We analyzed the incidence of the c...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938458/corticotroph-pituitary-carcinoma-in-a-patient-with-lynch-syndrome-ls-and-pituitary-tumors-in-a-nationwide-ls-cohort
#10
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome is a cancer predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing's disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation, and displayed defect MMR function...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#11
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938378/severe-corneal-disorders-developed-after-brimonidine-tartrate-ophthalmic-solution-use
#12
Yuko Maruyama, Yoko Ikeda, Norihiko Yokoi, Kazuhiko Mori, Hiroaki Kato, Morio Ueno, Shigeru Kinoshita, Chie Sotozono
PURPOSE: The primary side effects associated with 0.1% brimonidine tartrate (BT) ophthalmic solution with sodium chlorite are allergic conjunctivitis, blepharitis, and conjunctival hyperemia. However, cornea-related side effects are rare. In this study, we report 2 similar cases in which corneal neovascularization, corneal infiltration, and corneal opacity developed after BT eye-drop use. METHODS: Retrospective report of 2 cases of corneal infiltration after BT eye-drop use...
September 21, 2017: Cornea
https://www.readbyqxmd.com/read/28938363/reconstruction-of-the-heel-middle-foot-sole-and-plantar-forefoot-with-the-medial-plantar-artery-perforator-mpap-flap-clinical-experience-with-28-cases
#13
Mario F Scaglioni, Daniel Rittirsch, Pietro Giovanoli
INTRODUCTION: Defects in the weight-bearing region of the foot sole can represent a substantial restriction in quality of life and pose a challenge for reconstructive plastic surgery.The purpose of this article is to report our experience with the use of medial plantar artery perforator (MPAP) flap for reconstruction of defects of the foot sole in 3 different regions: heel, middle foot sole and plantar forefoot. PATIENTS AND METHODS: From January 2003 to May 2016, 28 patients (13 males and 15 females) with an average age of 54 years (range 12 to 84 y...
September 15, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28938313/a-novel-3-step-method-for-correction-of-type-1-stahl-ear
#14
Mimi R Borrelli, Edward H Davidson, Anand R Kumar
BACKGROUND: Stahl ear, a rare congenital auricular anomaly, occurs when a third crus crosses the scaphoid fossa. Optimal elimination of the third crus and reconstruction the superior crus in type 1 Stahl ear remain undercharacterized. We present a novel 3-step technique to reliably correct a type 1 Stahl ear as a case report. METHODS: A 10-year-old male with bilateral prominent type 1 Stahl ears is presented. An anterior curvilinear helical fold incision and posterior V wedge excision was used for exposure...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938309/successful-treatment-with-dabigatran-for-consumptive-coagulopathy-associated-with-extensive-vascular-malformations
#15
Atsushi Yasumoto, Ryohei Ishiura, Mitsunaga Narushima, Yutaka Yatomi
: Vascular malformation is occasionally complicated by consumptive coagulopathy, known as localized intravascular coagulopathy (LIC), which is characterized by a reduced fibrinogen level, an elevated D-dimer level and a normal platelet count. We report the case of a 17-year-old Japanese girl who presented with LIC secondary to extensive vascular malformations, whose condition had progressed to disseminated intravascular coagulation (DIC). She suddenly presented with severe anaemia, despite the absence of obvious bleeding, and she began to require regular red blood cell (RBC) transfusions...
September 21, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28938271/the-t-now-matters-the-eighth-edition-of-the-union-for-international-cancer-control-classification-of-pancreatic-adenocarcinoma
#16
Thilo Welsch, Adrian Seifert, Benjamin Müssle, Marius Distler, Daniela E Aust, Jürgen Weitz
BACKGROUND: The new 8th edition of the Union for International Cancer Control (UICC) classification of TNM staging includes relevant changes for pancreatic cancer (PC). We report on the survival stratification of the new T and N stages. METHODS: The 8th edition TNM system was retrospectively applied to patients who underwent curative PC resection at our institution between 2005-2015. RESULTS: Some 256 patients were included. The postoperative TNM stage was pT3 in 96% of the cases according to the 7th edition of UICC staging...
September 21, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28938259/hepatic-legionella-pneumophila-infection-in-an-infant-with-severe-combined-immunodeficiency
#17
Rotem Lapidot, Laila Alawdah, J R Köhler, Vera Paulson, Ofer Levy
Rare cases of extrapulmonary involvement in Legionella spp. infections have been described, mostly in immunocompromised adults. We report a case of a 2 month old male with reticular dysgenesis variant of severe combined immune deficiency (SCID) with multiple liver lesions. Core-needle biopsies of one liver lesion demonstrated Gram-negative bacilli and a broad-spectrum polymerase chain reaction (PCR) assay detected Legionella pneumophilia.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938233/no-apparent-association-between-bipolar-disorder-and-cancer-in-a-large-epidemiological-study-of-outpatients-in-a-managed-care-population
#18
Natan R Kahan, Barbara Silverman, Irena Liphshitz, Dan-Andrei Waitman, Itzhak Ben-Zion, Alexander M Ponizovsky, Abraham Weizman, Alexander Grinshpoon
An association between bipolar disorder (BD) and cancer risk has been reported. The purpose of this study was to investigate this association through linkage analysis of a national HMO database and a national cancer registry. All members of the Leumit Health Services (LHS) HMO of Israel from 2000 to 2012 were included. Members with a recorded diagnosis of BD and a record of at least one written or dispensed prescription for pharmacotherapy for treatment of BD were classified as patients with BD. We linked the LHS population with the Israel National Cancer Registry database to capture all cases of cancer reported...
September 21, 2017: International Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28938223/the-high-frequency-of-the-u2af1-s34y-mutation-and-its-association-with-isolated-trisomy-8-in-myelodysplastic-syndrome-in-asians-but-not-in-caucasians
#19
Seon Young Kim, Kwantae Kim, Byungjin Hwang, Kyongok Im, Si Nae Park, Jung-Ah Kim, Sang Mee Hwang, Duhee Bang, Dong Soon Lee
Mutational profiles of 153 Korean myelodysplastic syndrome (MDS) patients were investigated. Sequencing of 87 genes presented similar mutational profiles in Korean MDS patients compared with previous reports. The most frequently mutated genes were ASXL1 (22.9%), U2AF1 (16.3%), TP53 (13.7%), RUNX1 (10.5%), TET2 (10.5%), DNMT3A (8.5%), and SRSF2 (8.5%). The U2AF1 mutation frequency was higher, with different frequencies in the mutated sites of U2AF1 (S34Y, 6/25; S34F, 11/25; and Q157P 8/25). The U2AF1 S34Y mutation was strongly associated with isolated trisomy 8 (5/6, 83%) and was characterized by a younger age of MDS onset (median, 39 years)...
September 7, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28938195/understanding-public-perception-of-hydraulic-fracturing-a-case-study-in-spain
#20
D Costa, V Pereira, J Góis, A Danko, A Fiúza
Public acceptance is crucial for the implementation of energy technologies. Hydraulic fracturing is a technology widely used in the USA for natural gas production from shale formations, but currently finds strong public opposition worldwide, especially in Europe. Shale gas exploitation and exploration have the potential to significantly reduce import dependency in several countries, including Spain. To better understand public opinion on this issue, this article reports a survey targeting both the entire Spanish population and the inhabitants of the province of Burgos, the location where shale gas exploration permits have already been issued...
September 19, 2017: Journal of Environmental Management
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