keyword
https://read.qxmd.com/read/38444633/is-there-any-association-between-celiac-disease-myelodysplastic-symdrome-and-primary-sclerosing-cholangitis-a-rare-case-report
#1
Suaad Hamsho, Moudar Al Hariri, Bilal Sleiay, Abdul Hadi Daher Alhussen, Mouhammed Sleiay
Celiac disease (CD) is an autoimmune disease characterized by a specific serological and histological profile. Hematological findings are one of the most common presentations and can sometimes be the only manifestation of the disease. In patients with unexplained isolated hematological abnormalities, a high index of suspicion for CD is necessary. A 33-year-old woman was admitted to the Department of Gastroenterology and Hepatology because of abdominal pain and fatigue. She was diagnosed with myelodysplastic syndrome...
March 2024: JGH Open: An Open Access Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/38382851/the-predictive-value-of-serum-dickkopf-1-dickkopf-3-level-to-coronary-artery-disease-and-acute-coronary-syndrome
#2
JOURNAL ARTICLE
Panpan Xu, Yu Cao, Shuai Zhang, Xiaoling Liu, Meng Zhang, Cheng Zhang
BACKGROUND: Previous studies have already confirmed the association between Dickkopf (Dkk) protein and the occurrence and progression of atherosclerosis. However, there is limited clinical evidence regarding the serum levels of Dickkopf-1 (Dkk1) and Dickkopf-3 (Dkk3) in relation to atherosclerotic cardiovascular disease (ASCVD), particularly acute coronary syndrome (ACS). MATERIALS AND METHODS: A total of 88 healthy volunteers and 280 patients with coronary artery disease (CAD) undergoing coronary angiography for angina between October 2021 and October 2022, including 96 cases of stable angina (SA), 96 of unstable angina (UA) and 88 of acute myocardial infarction (AMI) were included finally...
February 19, 2024: International Journal of Cardiology
https://read.qxmd.com/read/38030534/post-traumatic-stress-and-health-related-quality-of-life-after-admission-to-paediatric-intensive-care-longitudinal-associations-in-mother-child-dyads
#3
JOURNAL ARTICLE
Debbie A Long, Patricia Gilholm, Robyne Le Brocque, Justin Kenardy, Kristen Gibbons, Belinda L Dow
OBJECTIVE: Elevated post-traumatic stress symptoms (PTSS) and reduced health-related quality of life (HRQoL) are commonly experienced in both children and their parent's following admission to the paediatric intensive care unit (PICU). Previous research has demonstrated a conflict in the directionality between PTSS and HRQoL in children and their parents. Our study sought to explore the interconnection and transmission between PTSS and HRQoL in children and their mothers following an admission to the PICU...
November 29, 2023: Australian Critical Care: Official Journal of the Confederation of Australian Critical Care Nurses
https://read.qxmd.com/read/37944213/information-and-oncosexological-management-in-breast-cancer-patients
#4
JOURNAL ARTICLE
Marie Cid, Jocelyn Gal, Renaud Schiappa, Anne-Sophie Azuar, Marion Merello, Yann Delpech, Marie Gosset
OBJECTIVES: Breast cancer treatment is a particularly high-risk situation for the deterioration of sexual health, leading to an alteration in body image and physical deteriorations such as vaginal trophicity. The aim of this study was to evaluate the information received by patients concerning this alteration of their sexual health in relation to their treatment, and to identify their expectations and needs in terms of oncosexual management. STUDY DESIGN: A bicentric qualitative retrospective study was conducted, involving women aged 18 to 80, treated for breast cancer by total or partial mastectomy after 2014 and having had a follow-up consultation between July and December 2019...
December 2023: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://read.qxmd.com/read/37566756/-early-detection-of-whim-symdrome-a-case-report
#5
Ana Paola Macías-Robles, Alberto Tlacuilo-Parra, Adolfo Eduardo Asencio-Gallegos, Beatriz Kazuko de la Herrán-Arita, Saúl O Lugo-Reyes
BACKGROUND: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English. CASE REPORT: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome...
May 24, 2023: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://read.qxmd.com/read/36574877/amplicon-sequencing-based-carrier-screening-for-170-monogenic-disorders-among-children-with-abnormal-lc-ms-ms-results
#6
JOURNAL ARTICLE
Xu Chen, Zhongyao Xu, Xianghua Lei, Hui Liang, Feng Wu, Ruoqing Chen, Yongchao Guo, Likuan Xiong
BACKGROUND: Next-generation sequencing (NGS) has been suggested as a second-tier diagnostic test for newborn screening, which could help identify the carrier status of hundreds monogenic disorders with wider spectrum and earlier stage. METHODS: Among the 1087 children (age from 27 minutes to 14 years old) underwent liquid chromatography-tandem mass spectrometry (LC-MS/MS), 290 individuals who had at least one abnormal value of LC-MS/MS measurements were sent for amplicon sequencing-based carrier screening (targeting 141 genes for 170 monogenic disorders)...
December 24, 2022: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/36387671/a-systematic-review-of-four-decades-of-prevalence-of-oral-soft-tissue-infections-and-conditions-among-adult-hiv-patients-in-india
#7
REVIEW
K Satyalakshmi, D Sathyanath, Shrikanth Muralidharan
Oral lesions are a cue for decreased immunity among Human Immunodeficiency Virus (HIV) positive patients. There is no cumulative data available related to the prevalence of oral soft tissue lesions among the HIV positive patients. Hence, the present review was carried out to assess the various oral lesions reported among adult HIV patients across India. Two search engines were used-Google Scholar and PubMed, with key words of HIV/Acquired Immune Deficiency Symdrome(AIDS), soft tissue, oral cavity, India, and adults for searching the articles from January 1990 to December 2020...
July 2022: Journal of Family Medicine and Primary Care
https://read.qxmd.com/read/36275810/celldestiny-a-rshiny-application-for-the-visualization-and-analysis-of-single-cell-lineage-tracing-data
#8
JOURNAL ARTICLE
Louisa Hadj Abed, Tamar Tak, Jason Cosgrove, Leïla Perié
Single-cell lineage tracing permits the labeling of individual cells with a heritable marker to follow the fate of each cell's progeny. Over the last twenty years, several single-cell lineage tracing methods have emerged, enabling major discoveries in developmental biology, oncology and gene therapies. Analytical tools are needed to draw meaningful conclusions from lineage tracing measurements, which are characterized by high variability, sparsity and technical noise. However, the single cell lineage tracing field lacks versatile and easy-to-use tools for standardized and reproducible analyses, in particular tools accessible to biologists...
2022: Frontiers in Medicine
https://read.qxmd.com/read/35858856/autoimmune-glial-fibrillary-acidic-protein-astrocytopathy-presented-as-isolated-area-postrema-symdrome-a-case-report
#9
JOURNAL ARTICLE
Jing Dang, Shengsuo Lei, Jihua Chen
BACKGROUND: Area postrema syndrome (APS) as the isolated manifestation in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy has been rarely reported. CASE PRESENTATION: A 61-year-old male patient presented with intractable hiccup. He was first admitted to the department of Gastroenterology because he had no symptoms other than hiccup. Then he was diagnosed with possible digestive system disease and started on treatment. 2 weeks later, his symptom didn't improve at all...
July 20, 2022: BMC Neurology
https://read.qxmd.com/read/34758123/clinical-and-molecular-characteristics-of-wiskott-aldrich-syndrome-in-five-unrelated-chinese-families
#10
JOURNAL ARTICLE
Jiali Jiang, Junli Zhou, Manlv Wei, Sanjeev Singh, Lauriane Nikuze, Lifang Huang, Yuping Li, Jinxia Jiang, Hongying Wei
Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS...
January 2022: Scandinavian Journal of Immunology
https://read.qxmd.com/read/34584710/case-report-antenatal-diagnostic-of-a-polymalformative-syndrome-due-to-biallelic-brca2-mutations
#11
Aude Anquetil, Suonavy Khung Savatovsky, Laurent Gavard, Anne Bazin, Fabien Guimiot, Christele Dubourg, Laurent Mandelbrot, Olivier Picone
Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.
September 2021: Clinical Case Reports
https://read.qxmd.com/read/33903303/high-sensitivity-c-reactive-protein-hscrp-its-relationship-with-metabolic-syndrome-and-framingham-risk-score
#12
JOURNAL ARTICLE
S Y Zahari Sham, E Hanif, S C Thambiah, I N Samsudin, S Mohd Noor, M Osman, H Abdullah, K Mustaffa
INTRODUCTION: Cardiovascular disease (CVD) remains the leading cause of death in Malaysia. Identification of asymptomatic at-risk individuals is often achieved by means of a risk prediction algorithm. Traditional CVD risk factors and their associated algorithms are, however, limited by residual CVD risk. High sensitivity C-reactive protein (hsCRP) has emerged as a novel CVD risk factor. This study aimed to evaluate hsCRP as an adjunct CVD risk marker among the adult Malaysian population by determining its correlation with the Framingham Risk Score (FRS)...
April 2021: Malaysian Journal of Pathology
https://read.qxmd.com/read/33863631/a-novel-nonsense-variant-in-mt-co3-causes-melas-syndrome
#13
JOURNAL ARTICLE
Wei Wang, Yuan Sun, Yan Lin, Xuebi Xu, Dandan Zhao, Kunqian Ji, Wei Li, Yuying Zhao, Chuanzhu Yan
Both mitochondrial and nuclear gene mutations can cause cytochrome c oxidase (COX, complex Ⅳ) dysfunction, leading to mitochondrial diseases. Although numerous diseases caused by defects of the COX subunits or COX assembly factors have been documented, clinical cases directly related to mitochondrial cytochrome c oxidase subunit 3 gene (MT-CO3) mutations are relatively rare. Here, we report a 47-year-old female patient presented with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome...
March 3, 2021: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/32976830/antibody-profiles-comprising-anti-phosphatidylserine-prothrombin-differently-affect-thrombin-generation-and-protein-c-resistance-in-antiphospholipid-antibody-carriers
#14
JOURNAL ARTICLE
Chunyan Cheng, Elena Pontara, Marta Tonello, Maria Grazia Cattini, Elisa Bison, Gentian Denas, Vittorio Pengo
Anti phosphatidylserine/prothrombin antibodies (aPS/PT) are currently not included in the laboratory work-up of antiphospholipid symdrome (APS). However, several studies indicate that aPS/PT confer additional risk for thromboembolic events when added to classical antiphospholipid (aPL) antibody panel. We aimed to study thrombin generation (TG), a test that describes hyper or hypo-coagulability, in a cohort of antiphospholipid antibody (aPL) carriers with or without aPS/PT. As oral anticoagulants interfere with TG, we performed the study in carriers of aPL antibodies not on oral anticoagulants treatment...
September 22, 2020: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/32657185/evaluation-of-changes-in-oral-health-related-quality-of-life-over-time-in-patients-with-sj%C3%A3-gren-s-syndrome
#15
JOURNAL ARTICLE
Naoto Azuma, Yoshinori Katada, Takahiro Yoshikawa, Yuichi Yokoyama, Aki Nishioka, Masahiro Sekiguchi, Masayasu Kitano, Sachie Kitano, Hajime Sano, Kiyoshi Matsui
Objectives: To assess oral health-related quality of life (OHRQoL) and changes in OHRQoL in three years of patients with Sjögren's symdrome (SS). Methods: Thirty-five SS patients and 23 non-SS individuals were enrolled. OHRQoL were quantitatively evaluated using the shortened Oral Health Impact Profile (OHIP-14). After three years, 22 patients and 14 controls tool the OHIP-14 survey again. Results: The SS group had a significantly higher OHIP-14 score, which indicated a lower OHRQoL, than the non-SS group...
July 11, 2020: Modern Rheumatology
https://read.qxmd.com/read/32202731/-an-ovarian-hyperstimulation-syndrome-caused-by-gonadotropinoma-in-a-young-woman
#16
JOURNAL ARTICLE
A M Gorbacheva, E G Przhiyalkovskaya, V N Azizyan, I V Stanoevich, A Y Grigoriev, A I Sazonova, A M Lapshina, Z E Belaya
From 14 to 54% of all pituitary adenomas are nonfunctioning pituitary adenomas (NPAs), their prevalence is estimated as 7.041.3 cases per 100 000 population. The most common type of NPAs (73% of cases) are gonadotropinomas. In most cases, gonadotropinoma is characterized by secretion of biologically inactive hormones, so the release of gonadotropins does not lead to the development of any clinical symptoms. For this reason the diagnosis of gonadotropinomas is most often performed on the basis of immunohistochemical analysis...
December 25, 2019: Problemy E̊ndokrinologii
https://read.qxmd.com/read/32133633/hispidulin-attenuates-the-social-withdrawal-in-isolated-disrupted-in-schizophrenia-1-mutant-and-chronic-phencyclidine-treated-mice
#17
JOURNAL ARTICLE
Akihiro Mouri, Hsin-Jung Lee, Takayoshi Mamiya, Yuki Aoyama, Yurie Matsumoto, Hisayoshi Kubota, Wei-Jan Huang, Lih-Chu Chiou, Toshitaka Nabeshima
BACKGROUND AND PURPOSE: Hispidulin is a flavonoid isolated from Clerodendrum inerme that was found to inhibit intractable motor tics. Previously, we found that hispidulin attenuates hyperlocomotion and the disrupted prepulse inhibition induced by methamphetamine and N-methyl-d-aspartate (NMDA) receptor antagonists, two phenotypes of schizophrenia resembling positive symptoms. Hispidulin can inhibit COMT, a dopamine-metabolizing enzyme in the prefrontal cortex (PFC) that is important for social interaction...
July 2020: British Journal of Pharmacology
https://read.qxmd.com/read/30003945/fast-and-slow-twitching-muscles-are-differentially-affected-by-reduced-cholinergic-transmission-in-mice-deficient-for-vacht-a-mouse-model-for-congenital-myasthenia
#18
JOURNAL ARTICLE
Matheus P S Magalhães-Gomes, Daisy Motta-Santos, Luana P L Schetino, Jéssica N Andrade, Cristiane P Bastos, Diogo A S Guimarães, Sydney K Vaughan, Patrícia M Martinelli, Silvia Guatimosim, Grace S Pereira, Candido C Coimbra, Vânia F Prado, Marco A M Prado, Gregorio Valdez, Cristina Guatimosim
Congenital myasthenic syndromes (CMS) result from reduced cholinergic transmission at neuromuscular junctions (NMJs). While the etiology of CMS varies, the disease is characterized by muscle weakness. To date, it remains unknown if CMS causes long-term and irreversible changes to skeletal muscles. In this study, we examined skeletal muscles in a mouse line with reduced expression of Vesicular Acetylcholine Transporter (VAChT, mouse line herein called VAChT-KDHOM ). We examined this mouse line for several reasons...
November 2018: Neurochemistry International
https://read.qxmd.com/read/29932094/acute-enterocolitis-causing-an-appendicitis-like-symdrome
#19
JOURNAL ARTICLE
Itsuro Kazama, Toshiyuki Nakajima
Not available.
June 1, 2018: Le Infezioni in Medicina
https://read.qxmd.com/read/29562459/-dysplasia-and-myelodysplasic-symdromes
#20
JOURNAL ARTICLE
Z J Xiao
No abstract text is available yet for this article.
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
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