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https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#1
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922041/paediatric-renal-tumours-perspectives-from-the-siop-rtsg
#2
(no author information available yet)
The >90% rates of overall survival for children with Wilms tumour are remarkable and have been achieved at the same time as reducing treatment for most patients. However, beneath this headline figure, 20% of patients still relapse after first-line therapy and up to 25% of survivors report severe late effects. The aim of the SIOP-RTSG is to improve outcomes and to reduce acute and late treatment toxic effects in all children.
December 6, 2016: Nature Reviews. Urology
https://www.readbyqxmd.com/read/27922025/water-exchange-method-significantly-improves-adenoma-detection-rate-a-multicenter-randomized-controlled-trial
#3
Hui Jia, Yanglin Pan, Xuegang Guo, Lina Zhao, Xiangping Wang, Linhui Zhang, Tao Dong, Hui Luo, Zhizheng Ge, Jun Liu, Jianyu Hao, Ping Yao, Yao Zhang, Hongyu Ren, Weizhen Zhou, Yujie Guo, Wei Zhang, Xiaolin Chen, Dayong Sun, Xiaoqiang Yang, Xiaoyu Kang, Na Liu, Zhiguo Liu, Felix Leung, Kaichun Wu, Daiming Fan
OBJECTIVES: Adenoma detection rate (ADR) is a key colonoscopy quality indicator in Western clinical literature. Our low ADR prompted us to assess novel methods to improve performance. Western retrospective reports suggested that water exchange (WE) could increase ADR. However, most of these studies used pain score or intubation rate as the primary outcome. Here we test the hypothesis that WE significantly increases ADR among Chinese colonoscopists and design a prospective randomized controlled trial using ADR as our primary outcome...
December 6, 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27921349/repeated-trauma-exposure-does-not-impair-distress-reduction-during-imaginal-exposure-for-posttraumatic-stress-disorder
#4
Alissa B Jerud, Frank J Farach, Michele Bedard-Gilligan, Hillary Smith, Lori A Zoellner, Norah C Feeny
BACKGROUND: Based on experimental research on threat extinction, individuals exposed to repeated traumatic events may have impaired outcome in exposure therapy compared to those who have experienced a single trauma (Lang & McTeague, ). This study examined whether repeated trauma exposure predicts smaller changes in self-reported distress during imaginal exposure and worse outcomes for patients with posttraumatic stress disorder (PTSD). METHODS: Adults (N = 116) with chronic PTSD received up to 10 sessions of prolonged exposure (PE) therapy...
December 6, 2016: Depression and Anxiety
https://www.readbyqxmd.com/read/27921257/impact-of-community-health-workers-on-use-of-healthcare-services-in-the-united-states-a-systematic-review
#5
Helen E Jack, Sophia D Arabadjis, Lucy Sun, Erin E Sullivan, Russell S Phillips
BACKGROUND: As the US transitions to value-based healthcare, physicians and payers are incentivized to change healthcare delivery to improve quality of care while controlling costs. By assisting with the management of common chronic conditions, community health workers (CHWs) may improve healthcare quality, but physicians and payers who are making choices about care delivery also need to understand their effects on healthcare spending. METHODS: We searched PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, PsycINFO, Embase, and Web of Science from the inception of each database to 22 June 2015...
December 5, 2016: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27921256/impact-of-bridging-income-generation-with-group-integrated-care-bigpic-on-hypertension-and-diabetes-in-rural-western-kenya
#6
Sonak D Pastakia, Simon M Manyara, Rajesh Vedanthan, Jemima H Kamano, Diana Menya, Benjamin Andama, Cleophas Chesoli, Jeremiah Laktabai
BACKGROUND: Rural settings in Sub-Saharan Africa (SSA) consistently report low participation in non-communicable disease (NCD) treatment programs and poor outcomes. OBJECTIVE: The objective of this study is to assess the impact of the implementation of a patient-centered rural NCD care delivery model called Bridging Income Generation through grouP Integrated Care (BIGPIC). DESIGN: The study prospectively tracked participation and health outcomes for participants in a screening event and compared linkage frequencies to a historical comparison group...
December 5, 2016: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27921241/introducing-transcatheter-aortic-valve-implantation-with-a%C3%A2-new-generation-prosthesis-institutional-learning-curve-and-effects-on-acute-outcomes
#7
G D'Ancona, H U Agma, S Kische, G El-Achkar, M Dißmann, J Ortak, H Ince, U Ketterer, A Bärisch, A Öner
OBJECTIVES: We present our single-centre experience with the direct flow medical (DFM) trans-catheter aortic valve implantation (TAVI) prosthesis addressing the impact of learning curve upon outcomes. BACKGROUND: The DFM has been recently introduced for TAVI. The prosthesis presents original design and implantation features. METHODS: Patients were divided into three groups according to the chronological implantation sequence that reflected technical skills acquisition of the entire team...
December 5, 2016: Netherlands Heart Journal
https://www.readbyqxmd.com/read/27921235/transplantation-of-collagen-scaffold-with-autologous-bone-marrow-mononuclear-cells-promotes-functional-endometrium-reconstruction-via-downregulating-%C3%AE-np63-expression-in-asherman-s-syndrome
#8
Guangfeng Zhao, Yun Cao, Xianghong Zhu, Xiaoqiu Tang, Lijun Ding, Haixiang Sun, Juan Li, Xinan Li, Chenyan Dai, Tong Ru, Hui Zhu, Jingjie Lu, Caimei Lin, Jingmei Wang, Guijun Yan, Huiyan Wang, Lei Wang, Yimin Dai, Bin Wang, Ruotian Li, Jianwu Dai, Yan Zhou, Yali Hu
Asherman's syndrome (AS) is a common disease that presents endometrial regeneration disorder. However, little is known about its molecular features of this aregenerative endometrium in AS and how to reconstruct the functioning endometrium for the patients with AS. Here, we report that ΔNp63 is significantly upregulated in residual epithelial cells of the impaired endometrium in AS; the upregulated-ΔNp63 induces endometrial quiescence and alteration of stemness. Importantly, we demonstrate that engrafting high density of autologous bone marrow mononuclear cells (BMNCs) loaded in collagen scaffold onto the uterine lining of patients with AS downregulates ΔNp63 expression, reverses ΔNp63-induced pathological changes, normalizes the stemness alterations and restores endometrial regeneration...
December 1, 2016: Science China. Life Sciences
https://www.readbyqxmd.com/read/27921203/treatment-of-uncomplicated-type-b-aortic-dissection
#9
REVIEW
Hitoshi Matsuda
Hospital mortality after the replacement of chronic type B aortic dissection is around 8-10% and adverse outcomes include paraplegia and stroke. However, the level of evidence for indication of thoracic endovascular aortic repair (TEVAR) for type B chronic aortic dissection is Class IIa. Results of the INSTEAD-XL trial have verified that preemptive TEVAR for uncomplicated type B aortic dissection improves prognosis. The indication for this procedure is reportedly a maximum aortic diameter >40 mm during the acute phase and a patent primary entry site in the thoracic aorta, while the optimal timing for TEVAR would be the subacute phase, from 2 weeks to 3-6 months after onset...
December 5, 2016: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27921197/counselees-perspectives-of-genomic-counseling-following-online-receipt-of-multiple-actionable-complex-disease-and-pharmacogenomic-results-a-qualitative-research-study
#10
Kevin Sweet, Shelly Hovick, Amy C Sturm, Tara Schmidlen, Erynn Gordon, Barbara Bernhardt, Lisa Wawak, Karen Wernke, Joseph McElroy, Laura Scheinfeldt, Amanda E Toland, J S Roberts, Michael Christman
Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients' motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi-structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports...
December 5, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27921166/outcome-in-unresectable-glioblastoma-mgmt-promoter-methylation-makes-the-difference
#11
Niklas Thon, Jun Thorsteinsdottir, Sabina Eigenbrod, Ulrich Schüller, Jürgen Lutz, Simone Kreth, Claus Belka, Jörg-Christian Tonn, Maximilian Niyazi, Friedrich Wilhelm Kreth
In 2011, we reported a predominant prognostic/predictive role of MGMT promoter methylation status on progression-free survival (PFS) in unresectable glioblastoma patients undergoing upfront radiotherapy plus concomitant and maintenance temozolomide (RTX/TMZ → TMZ). We, here, present the final results of this prospective study focussing on the prognostic/predictive value of MGMT promoter methylation status for death risk stratification. Overall, 56 adult patients with unresectable, biopsy proven glioblastoma were prospectively assigned to upfront RTX/TMZ → TMZ treatment between March 2006 and August 2008...
December 5, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27921126/successful-ct-guided-cryoablation-of-phosphaturic-mesenchymal-tumor-in-the-soft-tissues-causing-tumor-induced-osteomalacia-a-case-report
#12
Sophie Cowan, Santiago A Lozano-Calderon, Raul N Uppot, Dipti Sajed, Ambrose J Huang
We report the case of a 25-year-old male patient with tumor-induced osteomalacia from a 1.8-cm phosphaturic mesenchymal tumor in the right distal thigh, who was treated at our institution with a single session of CT-guided cryoablation in December 2015, which resulted in biochemical and clinical resolution. We present the clinical history, physical examination, biochemistry, functional imaging, anatomic characterization, and follow-up for clinical outcome. The response to treatment was documented in terms of normalization of serum fibroblastic growth factor 23 (FGF23) and phosphorous levels, symptomatic improvement, as well as normalization of bone mineralization on femur radiographs 3 months after the procedure...
December 5, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27920717/cataract-surgery-with-a-new-fluidics-control-phacoemulsification-system-in-nanophthalmic-eyes
#13
John S M Chang, Jack C M Ng, Vincent K C Chan, Antony K P Law
PURPOSE: To report visual outcomes and complications after cataract surgery in nanophthalmic eyes with a phacoemulsification system using the active fluidics control strategy. METHODS: This is a retrospective case series. All eyes with an axial length of less than 20 mm that underwent cataract surgery or refractive lens exchange using the Centurion Vision System (Alcon Laboratories Inc.) in Hong Kong Sanatorium and Hospital were evaluated. The visual acuity and intraoperative and postoperative complications were reported...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27920705/heterotopic-ossification-in-rectal-carcinoma-report-of-a-case-and-review-of-the-literature
#14
Jiro Shimazaki, Akira Takemura, Kiyotaka Nishida, Hideki Kajiyama, Mitsugi Shimoda, Shuji Suzuki
Heterotopic ossification in colorectal carcinoma is extremely rare. This report presents the case of a 57-year-old male who had undergone a low anterior resection following a diagnosis of rectal carcinoma. Histological examination showed heterotopic ossification in the tumor. The patient was referred to Ibaraki Medical Center, Tokyo Medical University, with a diagnosis of rectal carcinoma by a local physician. Abdominal computed tomography revealed thickening of the rectal wall with calcified deposits, and virtual colonoscopy showed stenosis with a mass in the rectum...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920683/squamous-cell-carcinoma-in-african-children-with-xeroderma-pigmentosum-three-case-reports
#15
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop
INTRODUCTION: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27920649/hepatoid-carcinoma-of-the-pancreas-case-report-next-generation-tumor-profiling-and-literature-review
#16
James M Chang, Nitin N Katariya, Dora M Lam-Himlin, Danielle J Haakinson, Ramesh K Ramanathan, Thorvardur R Halfdanarson, Mitesh J Borad, Rahul Pannala, Douglas Faigel, Adyr A Moss, Amit K Mathur
Fewer than 25 cases of hepatoid carcinoma of the pancreas have been reported in the literature. We present a case in a 61-year-old male with a remote history of Hodgkin's lymphoma and gastric neuroendocrine cell hyperplasia. On surveillance endoscopic ultrasound, an 8 × 5 mm cystic lesion was seen in the tail of the pancreas. MRI showed a focal pancreatic duct cut-off with mild ductal dilation. Fine needle aspiration was performed, which was concerning for acinar cell carcinoma. The patient underwent distal pancreatectomy and recovered uneventfully...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920542/protective-effect-of-tartary-buckwheat-on-renal-function-in-type-2-diabetics-a-randomized-controlled-trial
#17
Ju Qiu, Zaigui Li, Yuchang Qin, Yanfen Yue, Yanping Liu
Tartary buckwheat (TB) has been reported to be associated with a decreased risk of type 2 diabetes mellitus (T2DM), and T2DM has had a major impact on the development of diabetic kidney disease (DKD). Thus, the hypothesis that a daily intake of TB will improve DKD risk factors, including urinary albumin to creatinine ratio (UACR), urea nitrogen (UN), serum creatinine, and uric acid was tested. In a parallel, randomized, open-label controlled trial, 104 T2DM patients were randomly assigned to a diet control group (systematic diet plans and intensive nutritional education) or a TB intervention group (daily replacement of a portion of staple foods with TB foods)...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/27920505/illness-perceptions-and-stress-mediators-between-disease-severity-and-psychological-well-being-and-quality-of-life-among-patients-with-crohn-s-disease
#18
Maochen Zhang, Liwen Hong, Tianyu Zhang, Yun Lin, Sichang Zheng, Xiaolin Zhou, Rong Fan, Zhengting Wang, Chenli Zhang, Jie Zhong
BACKGROUND: Disease severity, illness perceptions, coping strategies, stress, psychological well-being, and quality of life were reported to have close relationships. According to the Common Sense Model, illness perceptions and coping strategies could mediate the relationship between illness stimuli and illness outcomes such as psychological health and quality of life. Stress was also associated with the individual's disease severity, anxiety, depression, and quality of life. OBJECTIVES: The study aimed to explore the influencing factors of illness outcomes, and to what extent illness perceptions, coping strategies, and stress mediate the relationship between disease severity and anxiety, and depression and quality of life...
2016: Patient Preference and Adherence
https://www.readbyqxmd.com/read/27920494/presence-or-absence-of-ocular-surface-inflammation-directs-clinical-and-therapeutic-management-of-dry-eye
#19
Robert Sambursky
BACKGROUND: The presence of clinically significant inflammation has been confirmed in the tears of 40%-65% of patients with symptoms of dry eye. Ocular surface inflammation may lead to tear film instability, epithelial cell irregularities, and permeability, resulting in chronic symptomatic pain and fluctuating vision as well as negative surgical outcomes. PATIENTS AND METHODS: A retrospective single center medical chart review of 100 patients was conducted. All patients were tested with the InflammaDry test to determine if patients exhibited elevated levels of matrix metalloproteinase 9 (MMP-9)...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27920483/outcomes-of-partial-splenic-embolization-in-patients-with-massive-splenomegaly-due-to-idiopathic-portal-hypertension
#20
Omer Ozturk, Gonca Eldem, Bora Peynircioglu, Taylan Kav, Aysegul Görmez, Barbaros Erhan Cil, Ferhun Balkancı, Cenk Sokmensuer, Yusuf Bayraktar
AIM: To determine the outcomes of partial splenic embolization (PSE) for massive splenomegaly due to idiopathic portal hypertension (IPH). METHODS: In this prospective study, we evaluated the characteristics and prognosis of consecutive patients with IPH who underwent PSE for all indications at a single medical center between June 2009 and January 2015. The inclusion criteria were: presence of hypersplenism, massive splenomegaly, and resultant pancytopenia. The exclusion criteria were: presence of other diseases causing portal hypertension...
November 21, 2016: World Journal of Gastroenterology: WJG
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