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https://www.readbyqxmd.com/read/28445943/a-molecular-inversion-probe-based-next-generation-sequencing-panel-to-detect-germline-mutations-in-chinese-early-onset-colorectal-cancer-patients
#1
Junxiao Zhang, Xiaoyan Wang, Richarda M de Voer, Jayne Y Hehir-Kwa, Eveline J Kamping, Robbert D A Weren, Marcel Nelen, Alexander Hoischen, Marjolijn J L Ligtenberg, Nicoline Hoogerbrugge, Xiangling Yang, Zihuan Yang, Xinjuan Fan, Lei Wang, Huanliang Liu, Jianping Wang, Roland P Kuiper, Ad Geurts van Kessel
The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ~5-10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes. Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1. From a consecutive series of 2,371 Chinese CRC patients, 140 familial and non-familial cases were selected that were diagnosed with CRC at or below the age of 35 years...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445875/double-incision-approach-and-early-rehabilitation-in-a-complicated-bicondylar-br-tibial-plateau-fracture-a-case-report-br-br
#2
Saverio Affatato, Maurizio Montalti, Claudio Masetti, Federico Giardina, Alessandra Sudanese
OBJECTIVE: The main goal of this case was to report the treatment of bicondylar fractures of the tibial plateau and the restoration of the metaphyseo-diaphyseal dissociation. CLINICAL PRESENTATION AND INTERVENTION: A 54-year old man who was cycling had a road accident that caused a closed fracture of the right tibial plateau and proximal fibula diagnosed by x-rays. Patient had surgical procedure and was immobilized with a long-leg splint for 4 weeks. After immobilization, aggressive rehabilitation was done...
April 26, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28445854/balance-training-in-individuals-with-parkinson-s-disease-therapist-supervised-vs-home-based-exercise-programme
#3
Elizabeth Maria Atterbury, Karen Estelle Welman
BACKGROUND: Poor locomotion and balance in Parkinson's disease (PD) often diminishes independence. Accordingly, gait is considered one of the most relevant rehabilitation outcomes, and home-based balance exercises might be a viable mode of exercise delivery for individuals with PD. However, research on PD interventions rarely indicate best practices to deliver exercises. Therefore, this study endeavoured to compare the efficacy of a home-based and therapist-supervised balance programme on gait parameters, dynamic balance, balance confidence and motivation in individuals diagnosed with PD...
April 4, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28445810/circulating-cadmium-concentration-and-risk-of-aortic-aneurysms-a-nested-case-control-study-within-the-malm%C3%A3-diet-and-cancer-cohort
#4
Björn Fagerberg, Yan Borné, Gerd Sallsten, J Gustav Smith, Stefan Acosta, Margaretha Persson, Olle Melander, Niklas Forsgard, Anders Gottsäter, Bo Hedblad, Lars Barregard, Gunnar Engström
BACKGROUND AND AIMS: Diet and smoking expose the general population to cadmium (Cd), which is a toxic metal that accumulates in the arterial wall. In experimental studies, Cd causes reductions in proliferation of smooth muscle cells and cellular synthesis of procollagen. The aim of this study was to examine whether blood Cd levels, a valid measure of Cd exposure, are associated with increased risk of abdominal aortic aneurysm (AAA). METHODS: All middle-aged men and women enrolled in the Malmö Diet and Cancer study (n = 30 447) were followed from the baseline examination in 1991-1996 through 2009...
April 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28445808/treatment-results-in-children-with-myeloid-leukemia-of-down-syndrome-in-saudi-arabia-a-multicenter-saphos-leukemia-group-study
#5
Wasil Jastaniah, Abdulrahman Alsultan, Saad Al Daama, Walid Ballourah, Mohammad Bayoumy, Faisal Al-Anzi, Omar Al Shareef, Mohammed Burhan Abrar, Reem Al Sudairy, Ibrahim Al Ghemlas
Despite the high incidence of Down syndrome (DS) in Arab countires, the incidence and outcomes of myeloid leukemia of DS (ML-DS) have not been studied. We evaluated 206 pediatric acute myeloid leukemia (AML) patients diagnosed between 2005 and 2012 and identified 31 (15%) ML-DS. The incidence of ML-DS was 48 per 100,000 compared to 0.6 per 100,000 for AML in non-DS children. Thus, patients with DS had 80-fold increased risk of ML-DS compared to AML in non-DS children. The median age at diagnosis was 1.8 years, male/female ratio was 1...
April 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28445794/post-transplant-malignancy-after-pediatric-kidney-transplantation-retrospective-analysis-of-incidence-and-risk-factors-in-884-patients-transplanted-between-1963-and-2015-at-the-university-of-minnesota
#6
Oscar K Serrano, Ananta S Bangdiwala, David M Vock, Srinath Chinnakotla, Ty B Dunn, Erik B Finger, Raja Kandaswamy, Timothy L Pruett, John S Najarian, Arthur J Matas, Blanche M Chavers
BACKGROUND: Post-transplant malignancy (PTM) remains a concern among pediatric kidney transplant (PKT) recipients. STUDY DESIGN: Between 1963 and 2015, 884 pediatric (age: 0-17 years old) recipients received 1055 PKTs at our institution. Cox proportional hazards models were constructed to identify risk factors for PTM after PKT with time-to-first-PTM as a primary outcome. Secondly, the hazard of death or graft loss was calculated in patients who developed PTM. RESULTS: Median patient survival was 33 years (interquartile range [IQR]: 18...
April 23, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28445705/mutation-characterization-and-heterodimer-analysis-of-patients-with-leukocyte-adhesion-deficiency-including-one-novel-mutation
#7
Shahram Teimourian, Martin De Boer, Dirk Roos, Anna Isaian, Ehsan Moghanloo, Sharhzad Lashkary, Bita Hassani, Hasan Mollanoori, Vahid Babaei, Asaad Azarnezhad
BACKGROUND AND AIM: Leukocyte adhesion deficiency type 1 (LAD-I) is a rare, autosomal recessive disorder of neutrophil migration, characterized by severe, recurrent bacterial infections, inadequate pus formation and impaired wound healing. The ITGB2 gene encodes the β2 integrin subunit (CD18) of the leukocyte adhesion cell molecules, and mutations in this gene cause LAD-I. The aim of the current study was to investigate the mutations in patients diagnosed with LAD-I and functional studies of the impact of two previously reported and a novel mutation on the expression of the CD18/CD11a heterodimer...
April 23, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28445703/sensitivity-and-specificity-of-laser-scanning-in-vivo-confocal-microscopy-for-filamentous-fungal-keratitis-role-of-observer-experience
#8
Ahmad Kheirkhah, Zeba A Syed, Vannarut Satitpitakul, Sunali Goyal, Rodrigo Müller, Elmer Y Tu, Reza Dana
PURPOSE: To determine sensitivity and specificity of laser-scanning in vivo confocal microscopy (LS-IVCM) for detection of filamentous fungi in patients with microbial keratitis and to evaluate the effect of observer's imaging experience on these parameters. DESIGN: Retrospective, reliability study METHODS: This study included 21 patients with filamentous fungal keratitis and 24 patients with bacterial keratitis (as controls). The etiology of infection was confirmed based on the response to specific therapy regardless of culture results...
April 23, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28445687/accuracy-of-low-dose-ct-in-the-diagnosis-of-appendicitis-in-childhood-and-comparison-with-usg-and-standard-dose-ct
#9
Dae Yong Yi, Kyung Hoon Lee, Sung Bin Park, Jee Taek Kim, Na Mi Lee, Hyery Kim, Sin Weon Yun, Soo Ahn Chae, In Seok Lim
OBJECTIVES: Computed tomography should be performed after careful consideration due to radiation hazard, which is why interest in low dose CT has increased recently in acute appendicitis. Previous studies have been performed in adult and adolescents populations, but no studies have reported on the efficacy of using low-dose CT in children younger than 10 years. METHODS: Patients (n=475) younger than 10 years who were examined for acute appendicitis were recruited...
April 23, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28445636/disposable-autonomous-device-for-rapid-swab-to-result-diagnosis-of-influenza
#10
Shichu Huang, Koji Abe, Steven Bennett, Tinny Liang, Paula D Ladd, Lindsay Yokobe, Caitlin E Anderson, Kamal Shah, Josh Bishop, Mike Purfield, Peter C Kauffman, Sai Paul, AnneMarie E Welch, Bonnie Strelitz, Kristin Follmer, Kelsey Pullar, Luis Sanchez-Erebia, Emily Gerth-Guyette, Gonzalo J Domingo, Eileen Klein, Janet A Englund, Elain Fu, Paul Yager
A prototype of a self-contained, automated, disposable device for chemically-amplified protein-based detection of influenza virus from nasal swab specimens was developed and evaluated in a clinical setting. The device required only simple specimen manipulation without any dedicated instrumentation or specialized training by the operator for interpretation. The device was based on a sandwich immunoassay for influenza virus nucleoprotein; it used an enzyme-labeled antibody and a chromogenic substrate to provide an amplified visible signal, in a two-dimensional paper network format...
April 26, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28445628/characterization-of-four-latin-american-families-confirms-previous-findings-and-reveals-novel-features-of-acid-labile-subunit-als-deficiency
#11
Paula A Scaglia, Ana C Keselman, Débora Braslavsky, Lucía C Martucci, Liliana M Karabatas, Sabina Domené, Mariana L Gutiérrez, María G Ballerini, María G Ropelato, Angela Spinola-Castro, Adriana A Siviero-Miachon, Juliana Saito Tartuci, Sol Rodríguez Azrak, Rodolfo A Rey, Héctor G Jasper, Ignacio Bergadá, Horacio M Domené
OBJECTIVE: ALS deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction of IGF-I and IGFBP-3 levels associated to mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families. DESIGN: Auxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives...
April 26, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28445615/status-epilepticus-in-dogs-and-cats-part-1-etiopathogenesis-epidemiology-and-diagnosis
#12
Susan Blades Golubovic, John H Rossmeisl
OBJECTIVE: To review current knowledge of the etiopathogenesis, diagnosis, and consequences of status epilepticus (SE) in veterinary patients. DATA SOURCES: Human and veterinary literature, including clinical and laboratory research and reviews. ETIOPATHOGENESIS: Status epilepticus is a common emergency in dogs and cats, and may be the first manifestation of a seizure disorder. It results from the failure of termination of an isolated seizure...
April 26, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28445548/assessing-the-severity-of-sleep-apnea-syndrome-based-on-ballistocardiogram
#13
Zhu Wang, Xingshe Zhou, Weichao Zhao, Fan Liu, Hongbo Ni, Zhiwen Yu
BACKGROUND: Sleep Apnea Syndrome (SAS) is a common sleep-related breathing disorder, which affects about 4-7% males and 2-4% females all around the world. Different approaches have been adopted to diagnose SAS and measure its severity, including the gold standard Polysomnography (PSG) in sleep study field as well as several alternative techniques such as single-channel ECG, pulse oximeter and so on. However, many shortcomings still limit their generalization in home environment. In this study, we aim to propose an efficient approach to automatically assess the severity of sleep apnea syndrome based on the ballistocardiogram (BCG) signal, which is non-intrusive and suitable for in home environment...
2017: PloS One
https://www.readbyqxmd.com/read/28445436/irritable-bowel-syndrome-clinical-manifestations-dietary-influences-and-management
#14
REVIEW
Ronald Ikechi, Bradford D Fischer, Joshua DeSipio, Sangita Phadtare
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder that is characterized by symptoms of chronic abdominal pain and altered bowel habits in the absence of an overtly identifiable cause. It is the most commonly diagnosed functional gastrointestinal disorder, accounting for about one third of gastroenterology visits. It generally presents as a complex of symptoms, including psychological dysfunction. Hypersensitivity to certain foods, especially foods that contain high amounts of fructose, plays a role in the pathophysiology of IBS...
April 26, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28445431/assessing-diabetes-and-factors-associated-with-foregoing-medical-care-among-persons-with-diabetes-disparities-facing-american-indian-alaska-native-black-hispanic-low-income-and-southern-adults-in-the-u-s-2011-2015
#15
Samuel D Towne, Jane Bolin, Alva Ferdinand, Emily Joy Nicklett, Matthew Lee Smith, Marcia G Ory
Objective: Identify individual- and place-based factors associated with diagnosed diabetes and forgone medical care among those diagnosed with diabetes. Background: Diabetes affects millions of individuals globally. In the U.S. alone the prevalence rate of diagnosed diabetes has more than doubled over the past 20 years (4.2% in 1994 to 10% in 2014). Methods: The Behavioral Risk Factor Surveillance System (2011-2015) was used to identify factors associated with self-reported diabetes diagnoses (ever diagnosed) among U...
April 26, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28445380/a-formidable-foe-is-sabotaging-your-results-what-you-should-know-about-biofilms-and-wound-healing
#16
Jenny C Barker, Ibrahim Khansa, Gayle M Gordillo
LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Describe biofilm pathogenesis as it relates to problem wounds. 2. Understand the preclinical and clinical evidence implicating biofilm in problem wounds. 3. Explain the diagnostic and treatment challenges that biofilms create for problem wounds. 4. Demonstrate a basic understanding of emerging strategies aimed at counteracting these processes. SUMMARY: Biofilm represents a protected mode of growth for bacteria, allowing them to evade standard diagnostic techniques and avoid eradication by standard therapies...
May 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28445308/clinical-value-of-radionuclide-shuntography-by-qualitative-methods-in-hydrocephalic-adult-patients-with-suspected-ventriculoperitoneal-shunt-malfunction
#17
Szu-Ying Tsai, Shan-Ying Wang, Yu-Chien Shiau, Lin-Hsue Yang, Yen-Wen Wu
To determine the clinical value of radionuclide shuntography in the evaluation of adult hydrocephalic patients with suspected ventriculoperitoneal (V-P) shunt malfunction. All adult patients who underwent Tc-99m diethylenetriamine pentaacetic acid shuntographic scans at Far Eastern Memorial Hospital between August 2005 and December 2015 were included. Shuntographic results were visually evaluated in a simple qualitative manner: prompt flow that reached the peritoneum on 30-minute early images and diffuse peritoneal tracer distribution on 2-hour delayed images were interpreted as nonobstructive shunt flow...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445302/cholestasis-caused-by-panhypopituitarism-and-acquired-cytomegalovirus-infection-in-a-2-month-old-male-infant-a-case-report
#18
U Chan, Wai-Tao Chan, Wei-Hsin Ting, Che-Sheng Ho, Hsi-Che Liu, Hung-Chang Lee
RATIONALE: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. PATIENT CONCERNS: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445301/the-value-of-red-cell-distribution-width-in-patients-with-ovarian-cancer
#19
Yuanyuan Qin, Peng Wang, Zhibi Huang, Gaoming Huang, Jingguang Tang, Yi Guo, Ping Huang, Zhanfeng Lai, Faquan Lin
BACKGROUND: The red cell distribution width (RDW) has attracted attention in the diagnosis of malignant tumors. In this study, we analyzed the correlation between the RDW and ovarian cancer by observing changes in the RDW in patients with ovarian cancer. METHODS: Patients diagnosed with ovarian cancer at the First Affiliated Hospital of Guangxi Medical University, China, from 2012 to 2016, were retrospectively analyzed. Patients diagnosed with ovarian benign tumors in our hospital during the same period comprised the control group...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28445300/malignant-phosphaturic-mesenchymal-tumor-with-pulmonary-metastasis-a-case-report
#20
Shui Qiu, Li-Li Cao, Yue Qiu, Ping Yan, Zi-Xuan Li, Jiang Du, Li-Mei Sun, Qing-Fu Zhang
RATIONALE: Phosphaturic mesenchymal tumor (PMT) is a new tumor entity of soft tissue and bone tumor recently accepted by the World Health Organization, which typically causes the paraneoplastic syndrome of tumor-induced osteomalacia (TIO). The majority of PMTs follow a benign clinical course and local recurrence occurs in < 10% of cases, malignant PMTs with distant organ metastasis are extremely uncommon. PATIENT CONCERNS: We reported a 41-year-old woman who was diagnosed with PMT 10 years ago with a repeated recurrence and pulmonary metastasis...
April 2017: Medicine (Baltimore)
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