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https://www.readbyqxmd.com/read/28921839/hepatoblastoma-in-children-aged-less-than-six-months-at-diagnosis-a-report-from-the-siopel-group
#1
Patrizia Dall'Igna, Laurence Brugieres, Anne Sanlaville Christin, Rudolf Maibach, Michela Casanova, Rita Alaggio, Jean de Ville de Goyet, Jozsef Zsiros, Bruce Morland, Piotr Czauderna, Margaret Childs, Daniel C Aronson, Sophie Branchereau, Penelope Brock, Giorgio Perilongo
BACKGROUND: The purpose of this study was to evaluate clinical characteristics, treatment, and survival of children, who were diagnosed with hepatoblastoma (HB) in their first 6 months of age, enrolled in the SIOPEL 2 and 3 protocols. METHODS: Seventy-nine patients, treated between 1994 and 2006, were analyzed after stratification into three age groups: <1 month, between 1 and 3 months, and between 3 and 6 months. All received preoperative chemotherapy. RESULTS: Clinical characteristics were similar in both trials: 4 patients had pulmonary metastases at diagnosis, 4 had α-fetoprotein <100 ng/ml, 68 were operated by partial hepatectomy, and 7 received liver transplant...
September 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28921481/negative-magnetic-resonance-imaging-in-three-cases-of-anterior-tibial-cortex-stress-fractures
#2
Ralph Smith, M Moghal, J L Newton, N Jones, J Teh
Anterior mid-tibial cortex stress fractures (ATCSF) are uncommon and notoriously challenging to treat. They are termed high risk due to their predilection to prolonged recovery, nonunion and complete fracture. Early diagnosis is essential to avoid progression and reduce fracture complications. Imaging plays a key role in confirming the diagnosis. Magnetic resonance imaging (MRI) is accepted as the gold standard modality due to its high accuracy and nonionizing properties. This report describes three cases of ATCSFs in recreational athletes who had positive radiographic findings with no significant MRI changes...
September 18, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28919924/comparison-of-parent-report-and-direct-assessment-of-child-skills-in-toddlers
#3
Lauren E Miller, Kayla A Perkins, Yael G Dai, Deborah A Fein
BACKGROUND: There are unique challenges associated with measuring development in early childhood. Two primary sources of information are used: parent report and direct assessment. Each approach has strengths and weaknesses, particularly when used to identify and diagnose developmental delays. The present study aimed to evaluate consistency between parent report and direct assessment of child skills in toddlers with and without Autism Spectrum Disorder (ASD) across receptive language, expressive language, and fine motor domains...
September 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/28919805/a-pilot-evaluation-of-a-computer-based-psychometric-test-battery-designed-to-detect-impairment-in-patients-with-cirrhosis
#4
Nicola A Cook, Jin Un Kim, Yasmin Pasha, Mary Me Crossey, Adrian J Schembri, Brian T Harel, Torben Kimhofer, Simon D Taylor-Robinson
BACKGROUND: Psychometric testing is used to identify patients with cirrhosis who have developed hepatic encephalopathy (HE). Most batteries consist of a series of paper-and-pencil tests, which are cumbersome for most clinicians. A modern, easy-to-use, computer-based battery would be a helpful clinical tool, given that in its minimal form, HE has an impact on both patients' quality of life and the ability to drive and operate machinery (with societal consequences). AIM: We compared the Cogstate™ computer battery testing with the Psychometric Hepatic Encephalopathy Score (PHES) tests, with a view to simplify the diagnosis...
2017: International Journal of General Medicine
https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#5
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28918881/clinical-detection-of-hemodynamically-significant-isolated-secundum-atrial-septal-defect
#6
Robert L Geggel
The diagnosis of secundum atrial septal defect often is delayed. For 310 patients with hemodynamically significant secundum atrial septal defect undergoing closure over a 5-year period at a single medical center, this study reviews the symptoms prompting referral, limitations of physical examination and electrocardiography, and basis for initially missing the diagnosis.
September 14, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28918410/-just-like-a-normal-pain-what-do-people-with-diabetes-mellitus-experience-when-having-a-myocardial-infarction-a-qualitative-study-recruited-from-uk-hospitals
#7
Nikita Berman, Melvyn Mark Jones, Daan A De Coster
OBJECTIVE: The objective of the study was to investigate the symptoms people with diabetes experience when having a myocardial infarction (MI), their illness narrative and how they present their symptoms to the health service. SETTING: Three London (UK) hospitals (coronary care units and medical wards). PARTICIPANTS: Patients were recruited with diabetes mellitus (DM) (types 1 and 2) with a clinical presentation of MI (ST elevated MI (STEMI), non-ST elevated MI (NSTEMI), acute MI unspecified and cardiac arrest)...
September 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/28917029/health-related-quality-of-life-and-its-determinants-in-patients-with-metastatic-renal-cell-carcinoma
#8
S de Groot, W K Redekop, M M Versteegh, S Sleijfer, E Oosterwijk, L A L M Kiemeney, C A Uyl-de Groot
PURPOSE: Based on improvements of progression-free survival (PFS), new agents for metastatic renal cell carcinoma (mRCC) have been approved. It is assumed that one of the benefits is a delay in health-related quality of life (HRQoL) deterioration as a result of a delay in progression of disease. However, little data are available supporting this relationship. This study aims to provide insight into the most important determinants of HRQoL (including progression of disease) of patients with mRCC...
September 15, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28917018/temporal-trends-in-utilization-and-outcomes-of-endoscopic-retrograde-cholangiopancreatography-in-acute-cholangitis-due-to-choledocholithiasis-from-1998-to-2012
#9
Malav P Parikh, Niyati M Gupta, Prashanthi N Thota, Rocio Lopez, Madhusudhan R Sanaka
BACKGROUND AND AIMS: Expeditious endoscopic retrograde cholangiopancreatography (ERCP) in acute cholangitis with biliary decompression is associated with better outcomes. In this study, we evaluated the temporal trends of ERCP utilization and healthcare outcomes among patients hospitalized with acute cholangitis due to choledocholithiasis (CDC) from 1998 to 2012. METHODS: We identified patients with a combined diagnosis of cholangitis and choledocholithiasis from the national inpatient sample database...
September 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28916965/factors-affecting-operative-efficiency-and-post-operative-convalescence-in-laparoendoscopic-single-site-less-adrenalectomy
#10
Yao-Chou Tsai, Chung-Hsien Chen, Ya-Hui Hu, Leay-Kiaw Er, Che-Hsiung Wu, Shih-Chieh Chueh, Victor Chia-Hsiang Lin
BACKGROUND: Laparoendoscopic single-site (LESS) adrenalectomy is a novel challenging technique which is still under clinical evaluation. Initial reports have revealed its superiority in patient convalescence. In addition, it has been reported that some patient or anatomic factors might affect the ergonomics of LESS adrenalectomy. The aim of this study is to investigate the possible factors that might affect procedural efficiency and patient convalescence in LESS adrenalectomy. METHODS: Between October 2009 and July 2015, 105 consecutive adult patients with benign adrenal tumors, who underwent LESS retroperitoneal adrenalectomy were enrolled in this study...
September 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28916175/early-sepsis-detection-in-critical-care-patients-using-multiscale-blood-pressure-and-heart-rate-dynamics
#11
Supreeth P Shashikumar, Matthew D Stanley, Ismail Sadiq, Qiao Li, Andre Holder, Gari D Clifford, Shamim Nemati
Sepsis remains a leading cause of morbidity and mortality among intensive care unit (ICU) patients. For each hour treatment initiation is delayed after diagnosis, sepsis-related mortality increases by approximately 8%. Therefore, maximizing effective care requires early recognition and initiation of treatment protocols. Antecedent signs and symptoms of sepsis can be subtle and unrecognizable (e.g., loss of autonomic regulation of vital signs), causing treatment delays and harm to the patient. In this work we investigated the utility of high-resolution blood pressure (BP) and heart rate (HR) times series dynamics for the early prediction of sepsis in patients from an urban, academic hospital, meeting the third international consensus definition of sepsis (sepsis-III) during their ICU admission...
August 16, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28915901/possible-effects-of-an-early-diagnosis-and-treatment-in-patients-with-growth-hormone-deficiency-the-state-of-art
#12
REVIEW
Stefano Stagi, Perla Scalini, Giovanni Farello, Alberto Verrotti
Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may to require prompt replacement therapy to avoid possible life-threatening complications. An increasing amount of data suggests the importance of an early diagnosis and treatment of GHD because of its auxological, metabolic, and neurodevelopmental features with respect to the patients diagnosed and treated later in life...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#13
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28914954/resident-rounds-part-iii-case-report-metastatic-cutaneous-squamous-cell-carcinoma-in-an-african-american-female
#14
Jennifer N Harb, Alexandra L Owens, Kathryn Mooneyham Potter, Michael Montuno, Reordan O De Jesus, Sailesh Konda
Cutaneous squamous cell carcinoma (cSCC) is the most common skin cancer diagnosed in African Americans.<sup>1</sup> Twenty to forty percent of cSCCs reported in African Americans are related to chronic scarring processes or areas of in ammation.<sup>2</sup> Risk factors for developing cSCCs in patients of color include chronic scars resulting from burns, skin ulcers, and radiation sites; and chronic inflammatory diseases such as discoid lupus and hidradenitis suppuritiva.<sup>1</sup> Although skin cancer only accounts for 1% to 2% of cancers diagnosed within African Americans, it is associated with increased morbidity and mortality in this population...
January 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28914728/reason-for-referral-predicts-utilization-and-perceived-impact-of-early-intervention-services
#15
Karina Javalkar, Jonathan S Litt
OBJECTIVE: Children participating in early intervention (EI) vary in their medical needs and degree of delay, and previous studies have shown significant differences in EI enrollment based on the reason for referral. The effect of reason for referral on service provision and family satisfaction is largely unknown. METHODS: We used data from the National Early Intervention Longitudinal Study for our secondary data analysis. The main predictor was the reason for referral: a diagnosed condition, documented developmental delay, or other risk factors...
September 7, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28914211/-a-toddler-with-a-vaginal-mass-and-blood-loss-the-rhabdomyosarcoma
#16
N Pleunis, W B Breunis, J H M Merks, A E Bouwma, J W van der Steeg
BACKGROUND: The differential diagnosis of vaginal blood loss in childhood is broad, and includes irritation of the mucous membranes, trauma, tumours, foreign bodies and sexual abuse. Physical and additional examination is often initially difficult; however, prompt detection of a rhabdomyosarcoma, a soft-tissue tumour principally diagnosed in childhood, is vitally important. CASE DESCRIPTION: A 3-year-old girl with a history of vaginal blood loss and an introital mass was referred to the gynaecologist...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28914127/psychiatric-and-neurological-symptoms-in-patients-with-niemann-pick-disease-type-c-np-c-findings-from-the-international-npc-registry
#17
Olivier Bonnot, Clarissa S Gama, Eugen Mengel, Mercè Pineda, Marie T Vanier, Louise Watson, Marie Watissée, Barbara Schwierin, Marc C Patterson
OBJECTIVES: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognized by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. METHODS: Treating physicians' data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists...
September 15, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28913777/diabetes-and-the-small-intestine
#18
REVIEW
Jonathan Gotfried, Stephen Priest, Ron Schey
Diabetes mellitus (DM) and its associated complications are becoming increasingly prevalent. Gastrointestinal symptoms associated with diabetes is known as diabetic enteropathy (DE) and may manifest as either diarrhea, fecal incontinence, constipation, dyspepsia, nausea, and vomiting or a combination of symptoms. The long-held belief that vagal autonomic neuropathy is the primary cause of DE has recently been challenged by newer theories of disease development. Specifically, hyperglycemia and the resulting oxidative stress on neural networks, including the nitrergic neurons and interstitial cells of Cajal (ICC), are now believed to play a central role in the development of DE...
September 15, 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28913339/ulcerative-gastritis-and-esophagitis-in-two-children-with-sarcina-ventriculi-infection
#19
Tim G J de Meij, Michiel P van Wijk, Aart Mookhoek, Andries E Budding
Sarcina ventriculi is a Gram-positive, obligate anaerobic coccus, with a characteristic morphology. Only 22 cases of human infections by this microorganism, including 7 in children, have been reported in literature so far. Affected subjects usually present with abdominal pain, nausea, vomiting, and delayed gastric emptying. However, life-threatening complications, like emphysematous gastritis and gastric perforation have also been described. Gastroparesis and gastric outlet obstruction have been considered as a potential etiologic factor...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28912997/laparoscopic-repair-of-diaphragmatic-rupture-a-case-report-with-radiological-and-surgical-correlation
#20
Patrick Nguyen, Bonnie Davis, Daniel D Tran
The leading cause of diaphragmatic rupture is penetrating abdominal trauma, including gunshot- and stab-related wounds; however, diaphragmatic rupture can also result from blunt trauma to the abdomen. The diagnosis can be difficult to make as the physical examination may be unremarkable, and imaging, that is, a conventional chest X-ray and/or CT imaging, may initially fail to reveal the injury. Failure to recognize diaphragmatic rupture can result in a delayed presentation, sometimes years later, with a potential catastrophic outcome...
2017: Case Reports in Surgery
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