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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/27920879/recurrent-solitary-fibrous-tumor-of-lumbar-spine-with-vertebral-body-involvement-imaging-features-and-differential-diagnosis-with-report-of-a-case
#2
Zerwa Farooq, Zain Badar, Daniel Zaccarini, Felix B Tavernier, Anthony Mohamed, Rajiv Mangla
Solitary fibrous tumors (SFTs) of the spine are exceedingly rare tumors of mesenchymal origin. Most spinal SFTs arise from the thoracic spine, followed by cervical spine, and last lumbar spine with only 6 cases reported in literature. SFTs represent a wide range of neoplasms, ranging from benign to malignant. These tumors can develop a late recurrence, even after a decade or more of initial presentation, requiring long-term follow-up. We present a case of recurrent SFT of the lumbar spine with vertebral body involvement, presenting more than a decade after initial resection...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#3
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27920709/shoulder-pain-after-fall-septic-shock-and-pyomyositis-associated-with-breast-cancer-chemotherapy-and-lymphedema
#4
Hiromitsu Kitayama, Junko Sugiyama, Michiaki Hirayama, Yosihiro Onada, Yasushi Tsuji
BACKGROUND: As a symptom of pyomyositis, sepsis usually follows local inflammation signs. Here, we report pyomyositis with lymphedema of upper extremity in which septic shock and poor local findings initially presented during chemotherapy for breast cancer. CASE REPORT: An 80-year-old woman presented with chronic right shoulder pain during chemotherapy for the recurrent disease. She had a history of postmastectomy lymphedema, diabetes mellitus, and repeated hyaluronic acid injections to the shoulder joint...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/27920678/diffuse-bullous-eruptions-in-an-elderly-woman-late-onset-bullous-systemic-lupus-erythematosus
#5
Prajwal Boddu, Mojtaba Nadiri, Owais Malik
Vesiculobullous eruptions in the elderly represent a diverse range of varying pathophysiologies and can present a significant clinical dilemma to the diagnostician. Diagnosis requires a careful review of clinical history, attention to detail on physical and histomorphological examination, and appropriate immunofluorescence testing. We describe the case of a 73-year-old female who presented to our hospital with a painful blistering skin rash developed over 2 days. Examination of the skin was remarkable for numerous flaccid hemorrhagic bullae on a normal-appearing nonerythematous skin involving both the upper and lower extremities...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27920571/commercial-test-kits-for-detection-of-lyme-borreliosis-a-meta-analysis-of-test-accuracy
#6
Michael J Cook, Basant K Puri
The clinical diagnosis of Lyme borreliosis can be supported by various test methodologies; test kits are available from many manufacturers. Literature searches were carried out to identify studies that reported characteristics of the test kits. Of 50 searched studies, 18 were included where the tests were commercially available and samples were proven to be positive using serology testing, evidence of an erythema migrans rash, and/or culture. Additional requirements were a test specificity of ≥85% and publication in the last 20 years...
2016: International Journal of General Medicine
https://www.readbyqxmd.com/read/27920557/effect-of-smoking-on-the-genetic-makeup-of-toll-like-receptors-2-and-6
#7
Muhammad Kohailan, Mohammad Alanazi, Mahmoud Rouabhia, Abdullah Alamri, Narasimha Reddy Parine, Abdullah Alhadheq, Santhosh Basavarajappa, Abdul Aziz Abdullah Al-Kheraif, Abdelhabib Semlali
BACKGROUND: Cigarette smoking is a major risk factor for lung cancer, asthma, and oral cancer, and is central to the altered innate immune responsiveness to infection. Many hypotheses have provided evidence that cigarette smoking induces more genetic changes in genes involved in the development of many cigarette-related diseases. This alteration may be from single-nucleotide polymorphisms (SNPs) in innate immunity genes, especially the toll-like receptors (TLRs). OBJECTIVE: In this study, the genotype frequencies of TLR2 and TLR6 in smoking and nonsmoking population were examined...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#8
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27918326/anesthetic-considerations-for-patients-with-congenital-central-hypoventilation-syndrome-a-systematic-review-of-the-literature
#9
Saptashree M Basu, Frances F Chung, Shireen F AbdelHakim, Jean Wong
Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition...
December 1, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27917589/the-petale-study-late-adverse-effects-and-biomarkers-in-childhood-acute-lymphoblastic-leukemia-survivors
#10
Sophie Marcoux, Simon Drouin, Caroline Laverdière, Nathalie Alos, Gregor U Andelfinger, Laurence Bertout, Daniel Curnier, Matthias G Friedrich, Ekaterini A Kritikou, Geneviève Lefebvre, Emile Levy, Sarah Lippé, Valérie Marcil, Marie-Josée Raboisson, Frank Rauch, Philippe Robaey, Mariia Samoilenko, Chantal Séguin, Serge Sultan, Maja Krajinovic, Daniel Sinnett
BACKGROUND: Childhood cancer survivorship issues represent an established public health challenge. Most late adverse effects (LAEs) have been demonstrated to be time and treatment dependent. The PETALE study is a multidisciplinary research project aiming to comprehensively characterize LAEs and identify associated predictive biomarkers in childhood acute lymphoblastic leukemia (cALL) survivors. METHODS: cALL survivors treated at Sainte-Justine University Health Center with Dana-Farber Cancer Institution-ALL protocols 87-01 through 2005-01 were eligible...
December 4, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27915348/delayed-nephrology-consultation-and-high-mortality-on-acute-kidney-injury-a-meta-analysis
#11
Débora M Soares, José F Pessanha, Aashish Sharma, Alessandra Brocca, Claudio Ronco
BACKGROUND: Acute kidney injury (AKI) is a complex syndrome associated with substantial morbidity, mortality and costs. Despite advancements in diagnosis and care practice, AKI remains a disorder usually under/late-recognized with high mortality. One of the hidden reasons for poor outcome might be delayed nephrology consultation, with the involvement of the specialist only in severe stages of AKI when renal replacement therapy (RRT) is required. METHODS: We searched PubMed, EMBASE and Cochrane central register for related work on the subject...
December 3, 2016: Blood Purification
https://www.readbyqxmd.com/read/27915329/acute-kidney-injury-risk-assessment-and-the-nephrology-rapid-response-team
#12
Lilia Maria Rizo-Topete, Mitchell H Rosner, Claudio Ronco
Acute kidney Injury (AKI) is a serious medical condition affecting more than 10 million people around the world annually and resulting in poor outcomes. It has been suggested that late recognition of the syndrome may lead to delayed interventions with increased morbidity and mortality. Early diagnosis and timely therapeutic strategies may be the cornerstone of future improvement in outcomes. The purpose of this article is to provide a practical model to identify patients at high risk for AKI in different environments, with the goal to prevent AKI...
December 3, 2016: Blood Purification
https://www.readbyqxmd.com/read/27914862/neurotensin-regulation-induces-overexpression-and-activation-of-egfr-in-hcc-and-restores-response-to-erlotinib-and-sorafenib
#13
Zherui Wu, Antoine Galmiche, Jin Liu, Nicolas Stadler, Dominique Wendum, Evelyne Segal-Bendirdjian, Valerie Paradis, Patricia Forgez
Hepatocellular carcinoma (HCC) is the third leading cause of death from cancer due to the combination of late diagnosis and a lack of curative treatments. The identification of factors which promote tumor aggressiveness, and those that predict treatment responses, are a means to optimize the management of HCC patients. The complex of Neurotensin (NTS) and its high affinity receptor (NTSR1) has been shown to induce tumor growth and metastasis process in various cancers. In this paper, we propose that NTS and NTSR1 can assist in the management of HCC...
November 30, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27911066/-conservative-management-of-liver-trauma-and-its-complications-current-gold-standard
#14
R Gander, J A Molino, S Santiago, A Laín, G Guillén, C Giné, G Royo, S López, M Pérez, I Díez, S Cañadas, J Lloret, J Bueno
INTRODUCTION: The liver is the second most frequently involved organ in abdominal trauma in children. The aim of this study was to review the characteristics of liver traumas (LT) in children, its treatment and complications. MATERIAL AND METHODS: Retrospective study of patients with LT treated between 2010-2014. We analyzed data regarding diagnosis, conservative management (CM), complications and treatment. RESULTS: Twenty-four patients of LT with a mean age of 9...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27909463/synthetic-nanoparticles-for-delivery-of-radioisotopes-and-radiosensitizers-in-cancer-therapy
#15
REVIEW
Jun Zhao, Min Zhou, Chun Li
Radiotherapy has been, and will continue to be, a critical modality to treat cancer. Since the discovery of radiation-induced cytotoxicity in the late 19th century, both external and internal radiation sources have provided tremendous benefits to extend the life of cancer patients. Despite the dramatic improvement of radiation techniques, however, one challenge persists to limit the anti-tumor efficacy of radiotherapy, which is to maximize the deposited dose in tumor while sparing the rest of the healthy vital organs...
2016: Cancer Nanotechnology
https://www.readbyqxmd.com/read/27909347/cancer-among-american-indians-identifying-priority-areas-in-oklahoma
#16
Sydney A Martinez, Amanda E Janitz, Julie Erb-Alvarez, Dana S Mowls, Janis E Campbell, Tom Anderson
BACKGROUND: We describe and compare cancer incidence and mortality among American Indians (AI/ANs) and whites in nine Indian Health Service (IHS) Service Units in Oklahoma. METHODS: Using data from the Oklahoma Central Cancer Registry and the web-based OK2SHARE database, we obtained age-adjusted cancer incidence rates from 1997 to 2012 and cancer mortality rates from 1999 to 2009 for AI/ANs and whites in Oklahoma. We examined differences in primary site, percentage of late stage diagnoses, and trends over time...
July 2016: Journal of the Oklahoma State Medical Association
https://www.readbyqxmd.com/read/27908961/foramen-of-winslow-hernia-case-report-of-a-minimally-invasive-approach
#17
Pedro N Brandão, Isabel Mesquita, Mónica Sampaio, Pedro Martins, Jorge Daniel, José Davide
Foramen of Winslow hernias account for 8% of all internal hernias. Their non-specific presentation and often late diagnosis are associated with an estimated mortality of 50%. The use of complementary diagnostic methods facilitates the diagnosis and planning of the therapeutic strategy. Urgent surgery is the appropriate treatment due to the risk of intestinal ischemia, being laparotomy the main form of approach described. Few cases of laparoscopy are referred to in the literature.
December 1, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27907059/quantitative-and-selective-analysis-of-feline-growth-related-proteins-using-parallel-reaction-monitoring-high-resolution-mass-spectrometry
#18
Mårten Sundberg, Emma M Strage, Jonas Bergquist, Bodil S Holst, Margareta Ramström
Today immunoassays are widely used in veterinary medicine, but lack of species specific assays often necessitates the use of assays developed for human applications. Mass spectrometry (MS) is an attractive alternative due to high specificity and versatility, allowing for species-independent analysis. Targeted MS-based quantification methods are valuable complements to large scale shotgun analysis. A method referred to as parallel reaction monitoring (PRM), implemented on Orbitrap MS, has lately been presented as an excellent alternative to more traditional selected reaction monitoring/multiple reaction monitoring (SRM/MRM) methods...
2016: PloS One
https://www.readbyqxmd.com/read/27906547/late-diagnosis-of-pomc-deficiency-and-in-vitro-evidence-of-residual-translation-from-allele-with-c-11c-a-mutation
#19
Aleksandra S Anisimova, Petr M Rubtsov, Kseniya A Akulich, Sergey E Dmitriev, Elena Frolova, Anatoly Tiulpakov
CONTEXT: Loss-of-function mutations in the POMC gene are associated with the syndrome of adrenal insufficiency, obesity and red hair. We describe here a case of POMC deficiency, in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a new approach. CASE DESCRIPTION: A boy presented in the first year of life with red hair, growth acceleration, moderate obesity and recurrent cholestasis, which was followed by two episodes of hypoglycemia at ages of 1...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27906430/recurrent-acute-pancreatitis-in-bowel-malrotation
#20
G Alessandri, A Amodio, L Landoni, N De' Liguori Carino, C Bassi
OBJECTIVE: Recurrent acute pancreatitis is an uncommon diagnosis in teenagers. Excluded alcohol and biliary stones, more prevalent aetiologies in these group of patients are genetic pancreatitis, pancreatic duct system abnormalities, neoplasia, traumas and congenital abnormalities of the duodenum such as duodenal duplication or diverticulum. Two reported cases of recurrent pancreatitis associated to midgut malrotation were described in English literature. Bowel malrotation is a difficult diagnosis in a teenager or a young adult and a common delay is documented...
November 2016: European Review for Medical and Pharmacological Sciences
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