keyword
https://read.qxmd.com/read/38329454/lessons-in-clinical-reasoning%C3%A2-pitfalls-myths-and-pearls-a-woman-brought-to-a-halt
#1
JOURNAL ARTICLE
Austin Rezigh, Alec Rezigh, Stephanie Sherman
OBJECTIVES: Limitations in human cognition commonly result in clinical reasoning failures that can lead to diagnostic errors. A metacognitive structured reflection on what clinical findings fit and/or do not fit with a diagnosis, as well as how discordance of data can help advance the reasoning process, may reduce such errors. CASE PRESENTATION: A 60-year-old woman with Hashimoto thyroiditis, diabetes, and generalized anxiety disorder presented with diffuse arthralgias and myalgias...
February 9, 2024: Diagnosis
https://read.qxmd.com/read/37958907/late-onset-pompe-disease-with-normal-creatine-kinase-levels-the-importance-of-rheumatological-suspicion
#2
Daniela Marotto, Marta Moschetti, Alessia Lo Curto, Anna M Spezzigu, Miriam Giacomarra, Emanuela M Marsana, Carmela Zizzo, Giovanni Duro, Paolo Colomba
Pompe disease (PD), also defined as acid maltase deficiency, is a rare autosomal recessive disease that causes glycogen accumulation due to a deficiency of the lysosomal enzyme acid α-glucosidase. An excessive amount of undisposed glycogen causes progressive muscle weakness throughout the body. It particularly affects skeletal muscles and the nervous system, especially in the late-onset phase. Here, we present a clinical case of late-onset PD (LOPD) with normal CK (creatinine kinase) values treated after a misdiagnosis of demyelinating motor polyneuropathy and chronic inflammatory neuropathy...
November 3, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37653478/status-of-diagnosis-and-preventative-treatment-for-primary-headache-disorders-real-world-data-of-unmet-needs-in-china
#3
JOURNAL ARTICLE
Huanxian Liu, Ming Dong, Kaiming Liu, Zhihua Jia, Wei Gui, Yingying Cheng, Yudan Lv, Kang Qu, Hongru Zhao, Jianjun Chen, Dan Zhang, Zhiliang Fan, Xiaosu Yang, Dongmei Hu, Hongyan Xie, Mingxin Li, Bing Wen, Sufen Chen, Peng Xu, Qingqing Rong, Qiu He, Zhanxiu Ren, Fanhong Yan, Heling Zhao, Min Chen, Tingmin Yu, Hongli Qu, Xingkai An, Huailian Guo, Xinhua Zhang, Xiaoping Pan, Xiaojuan Wang, Shi Qiu, Lvming Zhang, Hongling Zhao, Xin Pan, Qi Wan, Lanyun Yan, Jing Liu, Zhe Yu, Mingjie Zhang, Ye Ran, Xun Han, Shengyuan Yu, Zhao Dong
BACKGROUND: Headache disorders are widely prevalent and pose a considerable economic burden on individuals and society. Globally, misdiagnosis and inadequate treatment of primary headache disorders remain significant challenges, impeding the effective management of such conditions. Despite advancements in headache management over the last decade, a need for comprehensive evaluations of the status of primary headache disorders in China regarding diagnosis and preventative treatments persists...
September 1, 2023: Journal of Headache and Pain
https://read.qxmd.com/read/37482976/personality-construct-as-a-biomarker-in-fibromyalgia-a-narrative-review-from-an-autonomic-rehabilitation-perspective
#4
REVIEW
Poorvi Kulshreshtha, Kishore Kumar Deepak
BACKGROUND: The heterogeneity of symptoms and ineffective treatment raise questions about the current diagnostic criteria of fibromyalgia (FM). Misdiagnosis of FM often leads to less than efficacious treatment and poor quality of life. OBJECTIVE: This article reviews relevant evidence-based literature on personality traits in FM patients with an autonomic dysfunction perspective based on a hierarchical model to explain the utility of considering the personality trait in FM diagnosis...
July 8, 2023: Journal of Back and Musculoskeletal Rehabilitation
https://read.qxmd.com/read/37255191/self-reported-clinical-history-of-misdiagnosed-leprosy-cases-in-the-state-of-mato-grosso-brzil-2016-2019
#5
JOURNAL ARTICLE
Karine Vila Real Nunes Neves, Lúbia Maieles Gomes Machado, Maurício Nobre Lisboa, Peter Steinmann, Eliane Ignotti
This study aimed to analyze the self-reported clinical history of patients misdiagnosed with leprosy in the State of Mato Grosso, Brazil. This is a cross-sectional study of new leprosy cases diagnosed in the State of Mato Grosso from 2016 to 2019, with individuals who were released from multidrug therapy due to misdiagnosis after starting treatment. Data were collected via telephone interviews. Over the study period, 354 leprosy cases were released from treatment due to misdiagnosis, of which 162 (45.8%) could be interviewed...
2023: Cadernos de Saúde Pública
https://read.qxmd.com/read/36271470/screening-for-fabry-s-disease-in-a-high-risk-subpopulation-of-fmf
#6
JOURNAL ARTICLE
Tomer Maller, Ilan Ben-Zvi, Merav Lidar, Avi Livneh
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with mutations in the Mediterranean fever gene (MEFV) that manifests with recurrent episodes of febrile serositis. Fabry's disease (FD) is an X-linked lysosomal storage disease caused by mutations in the alpha-galactosidase A gene and presents with a wide range of gastrointestinal, skin, vascular, renal and neurological manifestations. FMF and FD share similar manifestations, which may lead to misdiagnosis of one as the other; mostly FD is misdiagnosed as FMF...
October 21, 2022: European Journal of Medical Research
https://read.qxmd.com/read/35800641/characteristics-of-outpatients-with-functional-somatic-syndromes-at-a-university-hospital-s-general-medicine-clinic
#7
JOURNAL ARTICLE
Junji Nishiyama, Tetsuya Abe, Sumito Imaizumi, Akira Yamane, Mikihiko Fukunaga
Background: The term medically unexplained symptoms (MUS) is unhelpful for both patients and physicians, and more acceptable illness categories are needed as substitutes for MUS. While some potential substitutes are characterized by excessive psychological burden related to somatic symptoms, "functional somatic syndromes" (FSS) is a category that focuses on physical dysfunction and emphasizes similarities among individual syndromes. Examples of FSS include irritable bowel syndrome, functional dyspepsia, and fibromyalgia syndrome...
July 2022: Journal of General and Family Medicine
https://read.qxmd.com/read/34987901/the-evolution-of-fibromyalgia-its-concepts-and-criteria
#8
REVIEW
Frederick Wolfe, Johannes J Rasker
Fibromyalgia developed in the 1950s from a substrate of difficult to explain regional and widespread pain mixed with symptoms of psychosocial distress. Controversies regarding psychological issues were common. Multiple criteria arose to define the disorder, but each identified a different set of patients. The identification of widespread pain as a criterion changed the nature of the disorder by effectively eliminating regional pain as a component condition. The easy-to-measure and relatively reliable widespread pain criterion then came to define the disorder...
November 2021: Curēus
https://read.qxmd.com/read/34861197/mistaken-identity-many-diagnoses-are-frequently-misattributed-to-lyme-disease
#9
JOURNAL ARTICLE
Takaaki Kobayashi, Yvonne Higgins, Michael T Melia, Paul G Auwaerter
BACKGROUND: Prior studies have demonstrated that Lyme disease is frequently over-diagnosed. However, few studies describe which conditions are misdiagnosed as Lyme disease. METHODS: This retrospective observational cohort study evaluated patients who lacked evidence for Borrelia burgdorferi infection referred for Lyme disease to a Mid-Atlantic academic center from 2000-2013. The primary outcome is clinically described diagnoses contributing to symptoms. Secondary outcomes included symptom duration and determination whether diagnoses were new or attributed to existing medical conditions...
April 2022: American Journal of Medicine
https://read.qxmd.com/read/33593267/neurological-associations-of-sars-cov-2-infection-a-systematic-review
#10
JOURNAL ARTICLE
Amaan Javed
BACKGROUND: The current ongoing COVID-19 pandemic has compelled us to scrutinize major outbreaks in the past two decades, severe acute respiratory syndrome (SARS), in 2002, and Middle East respiratory syndrome (MERS), in 2012. We aimed to assess the associated neurological manifestations with SARS CoV-2 infection. METHODS: In this systematic review, a search was carried out by key-electronic databases, controlled vocabulary, and indexing of trials to evaluate the available pertinent studies which included both medical subject headings (MeSH) and advance electronic databases comprising of PubMed, Embase, Scopus, Cochrane Central Register of Controlled Trials (CENTRAL)...
February 16, 2021: CNS & Neurological Disorders Drug Targets
https://read.qxmd.com/read/31848524/-hypophosphatemic-osteomalacia-caused-by-urinary-mesenchymal-tumor-a-case-report
#11
JOURNAL ARTICLE
H Wei, R Liu, Z H Wang, Z Q Yao
This case report concerns a 34-year-old woman who had been diagnosed with ankylosing spondylitis (AS), fibromyalgia syndrome (FMS), osteoarthritis (OA), lumbar disc herniation and the like in different hospitals during the past 18 months. She had progressive osteoarthrosis, significant muscle weakness, gait abnormalities in weightbearing areas, however without typical inflammatory low back pain, while the treatment with non-steroidal anti-inflammatory drugs (NSAIDs) was invalid, with normal inflammation index, negative results for rheumatic factor (RF) and human leukocyte antigen (HLA)-B27, and normal erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)...
December 18, 2019: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://read.qxmd.com/read/30747096/fibromyalgia-syndrome-under-over-and-misdiagnosis
#12
REVIEW
Winfried Häuser, Piercarlo Sarzi-Puttini, Mary-Ann Fitzcharles
Fibromyalgia syndrome (FM) is an enigma. During the past three decades, with the gradual acceptance of the validity of FM, it is variously under-, over and misdiagnosed. Evidence-based interdisciplinary guidelines have suggested a comprehensive clinical assessment to avoid this diagnostic conundrum. Every patient with chronic pain should be screened for chronic widespread pain (pain in four of five body regions) (CWP). Those with CWP should be screened for presence of additional major symptoms of FM: unrefreshed sleep and fatigue...
January 2019: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/30655187/hypophosphatasia-in-adults-clinical-spectrum-and-its-association-with-genetics-and-metabolic-substrates
#13
JOURNAL ARTICLE
Eveline Lefever, Peter Witters, Evelien Gielen, Annick Vanclooster, Wouter Meersseman, Eva Morava, David Cassiman, Michaël R Laurent
BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by mutations in the alkaline phosphatase (ALPL) gene, and characterized by low circulating alkaline phosphatase (ALP) levels and bone, muscle, dental and systemic manifestations. In this case series we investigate the clinical spectrum, genetic and biochemical profile of adult HPP patients from the University Hospitals Leuven, Belgium. METHODOLOGY: Adults with HPP were identified through medical record review...
July 2020: Journal of Clinical Densitometry
https://read.qxmd.com/read/29388465/understanding-the-impact-of-fibromyalgia-on-men-findings-from-a-nationwide-survey
#14
JOURNAL ARTICLE
Daenuka Muraleetharan, Ana Fadich, Colin Stephenson, Whitney Garney
Fibromyalgia (FM) is a serious condition that affects approximately four million people in the United States, and is underdiagnosed in men. The objective of this study was to understand this phenomenon by examining multiple impacts of fibromyalgia on men in regard to interactions in society and the U.S. health system. A qualitative survey was administered to 1,163 respondents both online and in-person in Tennessee, Virginia, Maryland, and Washington, DC. Thematic analyses of the survey responses suggest that men with FM have negative experiences with (1) physical and mental health, (2) quality of life, (3) relationships, and (4) careers as a result of FM...
July 2018: American Journal of Men's Health
https://read.qxmd.com/read/27692388/high-frequency-of-asymptomatic-hyperparathyroidism-in-patients-with-fibromyalgia-random-association-or-misdiagnosis
#15
JOURNAL ARTICLE
Juliana Maria de Freitas Trindade Costa, Aline Ranzolin, Cláudio Antônio da Costa Neto, Claudia Diniz Lopes Marques, Angela Luzia Branco Pinto Duarte
Fibromyalgia (FM) and hyperparathyroidism may present similar symptoms (musculoskeletal pain, cognitive disorders, insomnia, depression and anxiety), causing diagnostic confusion. OBJECTIVES: To determine the frequency of asymptomatic hyperparathyroidism in a sample of patients with FM and to evaluate the association of laboratory abnormalities to clinical symptoms. METHODS: Cross-sectional study with 100 women with FM and 57 healthy women (comparison group). Parathyroid hormone (PTH), calcium and albumin levels were accessed, as well as symptoms in the FM group...
September 2016: Revista Brasileira de Reumatologia
https://read.qxmd.com/read/27581217/the-contemporary-spectrum-of-multiple-sclerosis-misdiagnosis-a-multicenter-study
#16
MULTICENTER STUDY
Andrew J Solomon, Dennis N Bourdette, Anne H Cross, Angela Applebee, Philip M Skidd, Diantha B Howard, Rebecca I Spain, Michelle H Cameron, Edward Kim, Michele K Mass, Vijayshree Yadav, Ruth H Whitham, Erin E Longbrake, Robert T Naismith, Gregory F Wu, Becky J Parks, Dean M Wingerchuk, Brian L Rabin, Michel Toledano, W Oliver Tobin, Orhun H Kantarci, Jonathan L Carter, B Mark Keegan, Brian G Weinshenker
OBJECTIVE: To characterize patients misdiagnosed with multiple sclerosis (MS). METHODS: Neurologists at 4 academic MS centers submitted data on patients determined to have been misdiagnosed with MS. RESULTS: Of 110 misdiagnosed patients, 51 (46%) were classified as "definite" and 59 (54%) "probable" misdiagnoses according to study definitions. Alternate diagnoses included migraine alone or in combination with other diagnoses 24 (22%), fibromyalgia 16 (15%), nonspecific or nonlocalizing neurologic symptoms with abnormal MRI 13 (12%), conversion or psychogenic disorders 12 (11%), and neuromyelitis optica spectrum disorder 7 (6%)...
September 27, 2016: Neurology
https://read.qxmd.com/read/27102957/high-frequency-of-asymptomatic-hyperparathyroidism-in-patients-with-fibromyalgia-random-association-or-misdiagnosis
#17
JOURNAL ARTICLE
Juliana Maria de Freitas Trindade Costa, Aline Ranzolin, Cláudio Antônio da Costa Neto, Claudia Diniz Lopes Marques, Angela Luzia Branco Pinto Duarte
Fibromyalgia (FM) and hyperparathyroidism may present similar symptoms (musculoskeletal pain, cognitive disorders, insomnia, depression and anxiety), causing diagnostic confusion. OBJECTIVES: To determine the frequency of asymptomatic hyperparathyroidism in a sample of patients with FM and to evaluate the association of laboratory abnormalities to clinical symptoms. METHODS: Cross-sectional study with 100 women with FM and 57 healthy women (control group). Parathyroid hormone (PTH), calcium and albumin levels were accessed, as well as symptoms in the FM group...
March 22, 2016: Revista Brasileira de Reumatologia
https://read.qxmd.com/read/26520483/investigation-of-the-relationship-between-anxiety-and-heart-rate-variability-in-fibromyalgia-a-new-quantitative-approach-to-evaluate-anxiety-level-in-fibromyalgia-syndrome
#18
JOURNAL ARTICLE
Suleyman Bilgin, Evren Arslan, Onur Elmas, Sedat Yildiz, Omer H Colak, Gurkan Bilgin, Hasan Rifat Koyuncuoglu, Selami Akkus, Selcuk Comlekci, Etem Koklukaya
BACKGROUND: Fibromyalgia syndrome (FMS) is identified by widespread musculoskeletal pain, sleep disturbance, nonrestorative sleep, fatigue, morning stiffness and anxiety. Anxiety is very common in Fibromyalgia and generally leads to a misdiagnosis. Self-rated Beck Anxiety Inventory (BAI) and doctor-rated Hamilton Anxiety Inventory (HAM-A) are frequently used by specialists to determine anxiety that accompanies fibromyalgia. However, these semi-quantitative anxiety tests are still subjective as the tests are scored using doctor-rated or self-rated scales...
December 1, 2015: Computers in Biology and Medicine
https://read.qxmd.com/read/26441278/clinically-diagnosed-acute-diverticulitis-in-outpatients-misdiagnosis-in-patients-with-irritable-bowel-syndrome
#19
JOURNAL ARTICLE
George F Longstreth, Ryan S Tieu
BACKGROUND: Physicians often diagnose diverticulitis and prescribe antibiotics in outpatients with abdominal pain and tenderness without other evidence. AIM: We investigated the misattribution of irritable bowel syndrome (IBS) symptoms to diverticulitis in outpatients. METHODS: In patients diagnosed with diverticulitis and dispensed antibiotics in an integrated healthcare system, we retrospectively compared 15,846 outpatients managed without computed tomography (CT) versus 3750 emergency department/inpatients who had CT...
February 2016: Digestive Diseases and Sciences
https://read.qxmd.com/read/24760247/osteomalacia-mimicking-spondyloarthropathy-a-case-report
#20
JOURNAL ARTICLE
Y Garip, M Dedeoglu, H Bodur
Osteomalacia is a metabolic bone disorder characterized by impaired mineralization of bone matrix. Symptoms of osteomalacia can be confused with other conditions such as spondyloarthropathy, polymyalgia rheumatica, polymyositis, and fibromyalgia. In this case, we report a patient with axial osteomalacia who developed low back pain, morning stiffness, and "grade 3 sacroiliitis" in pelvis X-ray, leading to the misdiagnosis as seronegative spondyloarthropathy. Serum biochemical studies revealed low serum phosphorus, low 25-hydroxy vitamin D3, normal calcium, elevated parathyroid hormone, and alkaline phosphatase levels...
July 2014: Osteoporosis International
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