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https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#1
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29769504/dipstick-method-versus-spot-urinary-protein-creatinine-ratio-for-evaluation-of-massive-proteinuria-in-childhood-nephrotic-syndrome
#2
M N Sultana, B Majumder, M J Rahman, A M Moniruzzaman, A M Suja, M E Ali, Z H Sarker, S N Nabi, M A Mostakim
Measurement of massive proteinuria is vital for diagnosis of childhood Nephrotic syndrome. Quantification of 24 hours urinary protein is the gold standard test. Dipstick method of urinary protein measurement gives instant result for massive proteinuria. Spot urinary protein creatinine ratio measurement is variable. This was a hospital based prospective cross sectional study done at Department of Paediatric Nephrology, Rangpur Medical College Hospital from January 2014 to December 2015 to evaluate accuracy of dipstick method versus spot urinary protein-creatinine ratio in estimation of massive proteinuria in childhood nephrotic syndrome...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29767952/laser-cleavable-probes-based-cell-surface-engineering-for-in-situ-sialoglycoconjugates-profiling-by-ldi-mass-spectrometry
#3
Jie Sun, Huihui Liu, Lingpeng Zhan, Caiqiao Xiong, Xi Huang, Jinjuan Xue, Zongxiu Nie
Cell-surface sialoglycoconjugates (sialoglycoproteins & sialoglycolipids) play important roles in cell-cell interactions and related tumor metastasis process. Although there have been some analytical methods to evaluate the sialoglycoconjugates, an effective method providing both qualitative and quantitative information is still deficient. Here we establish an extraction-free, sensitive and high-throughput platform to realize in-situ detection of the cell-surface sialoglycoconjugates on various cell lines, e...
May 16, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29759424/lung-ultrasound-findings-undetectable-by-chest-radiography-in-children-with-community-acquired-pneumonia
#4
Giulio Iorio, Maria Capasso, Salvatore Prisco, Giuseppe De Luca, Carlo Mancusi, Bruno Laganà, Maria Antonietta Piscopo, Vincenzo Comune
The purpose of our study was to evaluate any differences between lung ultrasonography and chest radiography (CR) images in children with a diagnosis of community-acquired pneumonia (CAP) and, if there are any, to analyze the reasons and possible clinical implications. We reviewed the medical records of patients admitted to the pediatric ward from January 2014 to December 2016 and selected only cases discharged with a diagnosis of CAP who had undergone performed lung ultrasound (LUS) and CR within 24 h of each other...
May 11, 2018: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29752810/a-prospective-study-of-female-genital-chronic-graft-versus-host-disease-symptoms-signs-diagnosis-and-treatment
#5
Eva Smith Knutsson, Yvonne Björk, Anna-Karin Broman, Lotti Helström, Malin Nicklasson, Mats Brune, Karin Sundfeldt
INTRODUCTION: Female genital chronic graft-versus-host disease (cGvHD) is a complication of allogeneic hematopoietic cell transplantation (alloHCT) for blood malignancies. Unattended inflammation and fibrosis in the vulva and vagina may lead to total vaginal stenosis. The course and treatment of genital cGvHD was observed in this population-based prospective study. MATERIAL AND METHODS: Women (n = 41) receiving alloHCT in 2005-2010 were examined before and at 3, 6, 9, 12, 18, 24, 30, and 36 months post-transplant...
May 12, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29752700/neuro-radiological-features-can-predict-hypopituitarism-in-primary-autoimmune-hypophysitis
#6
Tommaso Tartaglione, Sabrina Chiloiro, Maria Elena Laino, Antonella Giampietro, Simona Gaudino, Angelo Zoli, Antonio Bianchi, Alfredo Pontecorvi, Cesare Colosimo, Laura De Marinis
Primary autoimmune hypophysitis (PAH) is considered an underdiagnosed disease, due to the difficulty in reaching a definitive diagnosis. PAH clinical diagnosis remains an exclusion diagnosis. We aimed to correlate PAH neuro-radiological signs to endocrine features and evaluate their prognostic role. 24 PAH cases were enrolled and classified according to neuro-radiological signs: in 12 adeno-hypophysitis (AHs), 8 infundibulo-neuro-hypophysitis (INHs) and 4 pan-hypophysitis (PHs). Secondary hypogonadism developed more frequently in INHs as compared to AHs (54...
May 11, 2018: Pituitary
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#7
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29746443/presumed-tuberculous-multifocal-retinitis-in-patients-under-treatment-with-biologic-agents
#8
Tiago E Arantes, Luiz H Lima, Gláucio L Bressanin, Cláudia D Marques, Ângela B Duarte, Cristina Muccioli
PURPOSE: To report unique retinal fundus lesions and treatment outcomes of intraocular tuberculosis in patients under anti-tumor necrosis factor treatment. METHODS: Retrospective review of two patients with laboratorial evidence of tuberculosis who had bilateral ocular signs and symptoms not attributable to other diseases. Multimodal imaging was analyzed at the time of presentation and after the treatment initiation. The study patients underwent standard treatment for tuberculosis...
May 4, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29743199/evaluation-of-dried-blood-spots-and-oral-fluids-as-alternatives-to-serum-for-human-papillomavirus-antibody-surveillance
#9
Karly S Louie, Jama Dalel, Caroline Reuter, Sara L Bissett, Michelle Kleeman, Lesley Ashdown-Barr, Rawinder Banwait, Anna Godi, Peter Sasieni, Simon Beddows
Human papillomavirus (HPV) vaccination elicits high-titer genotype-specific antibody responses that are associated with a reduced risk of cervical disease caused by vaccine-incorporated genotypes. Our objective was to evaluate dried blood spots (DBSs) and oral mucosal transudate (OMT) as alternative samples to serum to confirm HPV vaccine antibody status. A study was carried out to evaluate the feasibility of detecting HPV16 and HPV18 antibodies in OMT, DBSs, and sera among women who self-reported being unvaccinated or fully vaccinated with the HPV vaccine...
June 27, 2018: MSphere
https://www.readbyqxmd.com/read/29739104/prevalence-of-glucose-6-phosphate-dehydrogenase-deficiency-in-sichuan-china
#10
Jing Zhang, Yali Cui, Xia Wang, Yingying Li, Dongmei Jiang, Wei Dai, Yongmei Jiang
BACKGROUND: Our goals were to screen newborns and characterize the occurrence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southwestern China. Meanwhile, we would like to analyze the factors that might affect the results of neonatal dried blood spots for glucose-6-phosphate dehydrogenase screening test, to improve the clinical quality control level, effectively reduce the external factors in the process of detection. METHODS: This study involved an evaluation of G6PD data for 20,644 newborns from a universal newborn screening program...
March 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29736759/in-vitro-impact-of-laser-irradiation-on-platelet-aggregation
#11
Eman A Shakir, Nabaa A Rasheed Naji
The review of blood optical and rheological parameters plays an important role in many medical routine diagnosis and therapeutic applications and is the best way to understand the mechanism of action of low-level laser irradiation on biological tissues. The aim of this study was to investigate the in vitro effect of laser radiation on platelet count and aggregation. Blood samples were obtained from 30 healthy volunteers; each sample was divided into four aliquots, one of them was considered as a control while the other three were exposed to three different laser doses...
May 7, 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29733758/comparison-of-the-performance-of-enzyme-immunoassays-for-hepatitis-b-and-c-detection-in-dried-blood-spot
#12
Helena Medina Cruz, Juliana Custódio Miguel Cruz, Elisangela Ferreira Da Silva, Moyra Machado Portilho, Vanessa Alves Marques, Lia Laura Lewis-Ximenez, Elisabeth Lampe, Livia Melo Villar
Dried blood spots (DBSs) could be an alternative to serum for hepatitis B virus (HBV) and hepatitis C virus (HCV) diagnosis. This study aims to evaluate two enzyme immunoassays (EIAs) for HBsAg and anti-HCV detection using DBS. Serum was tested using commercial EIA. DBS was tested using optimized EIA developed for serum and commercial EIA developed for DBS (Imunoscreen). Concordances between DBS and serum samples for both markers and EIAs were higher than 97%. Both EIAs demonstrated good performance for HBsAg and anti-HCV detection using DBS, and these methods could be used unchangeably increasing the access for HBV and HCV diagnosis...
May 7, 2018: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/29730681/clinical-and-ultrasound-findings-in-patients-with-calcium-pyrophosphate-dihydrate-deposition-disease
#13
Paulina Vele, Siao-Pin Simon, Laura Damian, Ioana Felea, Laura Muntean, Ileana Filipescu, Simona Rednic
AIM: To evaluate the presence and distribution of calcium pyrophosphate (CPP) deposits in joints commonly affected by CPP deposition (CPPD) disease (acromio-clavicular, gleno-humeral, wrists, hips, knees, ankles, and symphysis pubis joints) using ultrasound (US). MATERIAL AND METHODS: Thirty consecutive patients fulfilling McCarty diagnostic criteria for CPPD were consecutively enrolled in the study. The data registered using the US included the affected joints, the calcification site, and the pattern of calcification (thin hyperechoic bands, parallel to the surface of the hyaline cartilage, hyperechoic spots, and hyperechoic nodular or oval deposits)...
May 2, 2018: Medical Ultrasonography
https://www.readbyqxmd.com/read/29728943/detection-of-white-spot-lesions-by-segmenting-laser-speckle-images-using-computer-vision-methods
#14
Luciano G Gavinho, Sidnei A Araujo, Sandra K Bussadori, João V P Silva, Alessandro M Deana
This paper aims to develop a method for laser speckle image segmentation of tooth surfaces for diagnosis of early stages caries. The method, applied directly to a raw image obtained by digital photography, is based on the difference between the speckle pattern of a carious lesion tooth surface area and that of a sound area. Each image is divided into blocks which are identified in a working matrix by their χ2 distance between block histograms of the analyzed image and the reference histograms previously obtained by K-means from healthy (h_Sound) and lesioned (h_Decay) areas, separately...
May 5, 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29723601/clinical-utility-of-ezh1-mutations-in-the-diagnosis-of-follicular-patterned-thyroid-tumors
#15
Chan Kwon Jung, Yourha Kim, Sora Jeon, Kwanhoon Jo, Sohee Lee, Ja Seong Bae
Follicular-patterned tumors of the thyroid gland are characterized by a predominantly follicular growth pattern. They frequently harbor RAS mutations, not BRAF mutations. Technological advances in molecular testing have discovered novel RAS-type mutations. However, clinical significance of these mutations remains unknown. We investigated the prevalence and clinical impact of mutations of BRAF, NRAS, HRAS, KRAS, EZH1, EIF1AX, and TERT genes by Sanger sequencing in a series of 201 follicular-patterned thyroid tumors including follicular adenoma (n=40), Hürthle cell adenoma (n=54), noninvasive follicular thyroid neoplasms with papillary-like nuclear features (n=50), follicular thyroid carcinoma (n=40), Hürthle cell carcinoma (n=10), and poorly differentiated thyroid carcinoma arising in a well differentiated follicular neoplasm (n=7), and 120 classic papillary carcinoma...
April 30, 2018: Human Pathology
https://www.readbyqxmd.com/read/29720407/diagnostic-potential-of-stored-dried-blood-spots-for-inborn-errors-of-metabolism-a-metabolic-autopsy-of-medium-chain-acyl-coa-dehydrogenase-deficiency
#16
Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
AIM: It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy to determine the causes of death in infants and children who died suddenly and unexpectedly. METHODS: Infants or toddlers who had suddenly died without a definite diagnosis between July 2008 and December 2012 at Kyushu University Hospital in Japan were enrolled in this study...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29713220/ultrasonographic-findings-of-scleredema-adultorum-of-buschke-involving-the-posterior-neck
#17
Dong-Ho Ha, Myung Jin Lee, Su-Jin Kim
Objective: To describe the clinical and ultrasonographic (US) findings in patients with scleredema adultorum of Buschke, who presented with sclerotic skin on their posterior neck. Materials and Methods: After obtaining IRB approval, eight patients with scleredema adultorum of Buschke were enrolled. They underwent US examination of their posterior neck. The diagnoses were confirmed pathologically. The clinical history and US images were evaluated retrospectively...
May 2018: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/29709963/evaluation-of-diagnostic-assay-for-rickettsioses-using-duplex-real-time-pcr-in-multiple-laboratories-in-japan
#18
Fumihiko Kawamori, Yukie Shimazu, Hiroko Sato, Naota Monma, Asaka Ikegaya, Seigo Yamamoto, Hiromi Fujita, Hiroshi Morita, Yukiko Tamaki, Naoya Takamoto, Hongru Su, Masahiko Shimada, Yuko Shimamura, Shuichi Masuda, Shuji Ando, Norio Ohashi
Tsutsugamushi disease (TD) and Japanese spotted fever (JSF) are known as representative rickettsioses in Japan, and caused by infection with Orientia tsutsugamushi and Rickettsia japonica, respectively. For molecular-based diagnosis, conventional PCRs which independently amplify respective rickettsial DNAs are usually used, but it's time-consuming. Here, we describe a new duplex real-time PCR assay for simultaneous detection of O. tsutsugamushi and spotted fever group rickettsiae, and evaluated under several PCR conditions in 6 public health laboratories...
April 27, 2018: Japanese Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29708976/factors-associated-with-visual-field-defects-of-optic-disc-drusen
#19
Kyoung Min Lee, Se Joon Woo, Jeong-Min Hwang
PURPOSE: To investigate the prevalence and risk factors for visual field defect in patients with optic disc drusen (ODD). METHODS: We assessed the visual field status of patients with ODD whose diagnosis were confirmed by spectral-domain optical coherence tomography (SD-OCT). Visual field defects were classified as normal, enlarged blind spot, or other defects. ODD were classified into either type 1 (without hyperreflective border and heterogenic internal reflectance) or type 2 (with hyperreflective border and lower internal reflectance)...
2018: PloS One
https://www.readbyqxmd.com/read/29701940/urinary-phthalate-metabolite-concentrations-and-breast-cancer-incidence-and-survival-following-breast-cancer-the-long-island-breast-cancer-study-project
#20
Humberto Parada, Marilie D Gammon, Jia Chen, Antonia M Calafat, Alfred I Neugut, Regina M Santella, Mary S Wolff, Susan L Teitelbaum
BACKGROUND: Phthalates, known endocrine disruptors, may play a role in breast carcinogenesis. Few studies have examined phthalates in relation to breast cancer (BC), and, to our knowledge, none have considered survival following BC. OBJECTIVES: We examined 11 urinary phthalate metabolites, individually and as molar sum groupings, in association with BC incidence and subsequent survival. METHODS: Our study includes 710 women diagnosed with first primary BC in 1996-1997 and 598 women without BC from Long Island, New York...
April 26, 2018: Environmental Health Perspectives
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