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https://www.readbyqxmd.com/read/28742519/45-x-46-xy-ovotesticular-disorder-of-sex-development-revisited-undifferentiated-gonadal-tissue-may-be-mistaken-as-ovarian-tissue
#1
Juliana Gabriel Ribeiro de Andrade, Liliana Aparecida Lucci De Angelo Andrade, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. CASE PRESENTATION: Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28736541/hallucinations-in-healthy-older-adults-an-overview-of-the-literature-and-perspectives-for-future-research
#2
REVIEW
Johanna C Badcock, Hedwige Dehon, Frank Larøi
KEY POINTS ➢ Studies suggest a substantial minority of healthy older adults have hallucinatory experiences, in line with existing evidence on hallucinations in other age groups, though it is still unclear if hallucination prevalence increases or declines with age in older cohorts.➢ Stigma attached to both hallucinations and ageing leads to considerable under-reporting of these experiences in healthy older adults and may negatively bias how professionals, family members, and the public respond.➢ Why and when hallucinations in healthy older adults remit, persist, or progress to other clinical disorders remains poorly understood...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28732838/causes-of-misdiagnosis-of-chronic-obstructive-pulmonary-disease-a-systematic-scoping-review
#3
REVIEW
Stine Hangaard, Tina Helle, Carl Nielsen, Ole K Hejlesen
BACKGROUND: Chronic obstructive pulmonary disease (COPD) has serious implications at both the individual and the societal level. It is crucial that COPD is diagnosed correctly to ensure provision of the right treatment. However, the current diagnostic procedures may lead to misdiagnosis. AIM: The aim of this scoping review was to disseminate knowledge about potential causes of misdiagnosis of COPD. METHODS: A systematic, comprehensive search was performed in PubMed, Embase and Cinahl...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28732360/a-systematic-review-of-malignancy-associated-hemophagocytic-lymphohistiocytosis-that-needs-more-attentions
#4
REVIEW
Hongluan Wang, Lixia Xiong, Weiping Tang, Ying Zhou, Fei Li
As an infrequent but potentially life-threatening hyperinflammatory syndrome, hemophagocytic lymphohistiocytosis (HLH) is clinically characterized with prolonged fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. Malignancy-associated HLH (M-HLH), one type of acquired HLH, usually presents variable overlaps of symptoms with other types of HLH, thus resulting in higher incidence of misdiagnosis and mortality. In recent years, with the increasing awareness to this disease, the diagnosis and management of HLH have gained more and more attention, and improvements have been made accordingly...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28731005/preparing-medical-students-with-congenital-colour-vision-deficiency-for-safe-practice
#5
Rajat Dhingra, Jolly Rohatgi, Upreet Dhaliwal
BACKGROUND: Colour vision of candidates is tested in many medical colleges in India at the time of admission to undergraduate courses; however, there are no guidelines, and therefore no counselling, on how students with congenital colour vision deficiency (CCVD) should negotiate the medical course, and how best they can practise safely after graduation. Problems in interpreting coloured signs may lead to misdiagnosis. This study aimed to explore difficulties during clinical work that requires colour discrimination, and to offer suggestions on safe practice based on the findings and a review of the literature...
January 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28729345/recent-advances-in-understanding-and-managing-body-dysmorphic-disorder
#6
REVIEW
Georgina Krebs, Lorena Fernández de la Cruz, David Mataix-Cols
Body dysmorphic disorder (BDD) is a relatively common and disabling psychiatric disorder characterised by excessive and persistent preoccupation with perceived defects or flaws in one's appearance, which are unnoticeable to others, and associated repetitive behaviours (eg, mirror checking). The disorder generally starts in adolescence, but often goes unnoticed and is severely underdiagnosed. Left untreated, BDD typically persists and causes marked functional impairment in multiple domains. This clinical review considers recent advances in the epidemiology and classification of BDD, including its reclassification in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders under the new 'Obsessive-Compulsive and Related Disorders' chapter...
July 20, 2017: Evidence-based Mental Health
https://www.readbyqxmd.com/read/28728558/accuracy-of-a-plasmodium-falciparum-specific-histidine-rich-protein-2-rapid-diagnostic-test-in-the-context-of-the-presence-of-non-malaria-fevers-prior-anti-malarial-use-and-seasonal-malaria-transmission
#7
Francois Kiemde, Massa Dit Achille Bonko, Marc Christian Tahita, Palpouguini Lompo, Toussaint Rouamba, Halidou Tinto, Michael Boele van Hensbroek, Petra F Mens, Henk D F H Schallig
BACKGROUND: It remains challenging to distinguish malaria from other fever causing infections, as a positive rapid diagnostic test does not always signify a true active malaria infection. This study was designed to determine the influence of other causes of fever, prior anti-malarial treatment, and a possible seasonality of the performance of a PfHRP2 RDT for the diagnosis of malaria in children under-5 years of age living in a malaria endemic area. METHODS: A prospective etiology study was conducted in 2015 among febrile children under 5 years of age in Burkina Faso...
July 20, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28728264/-exploratory-research-on-diagnostic-essentials-of-pediatric-tuberculous-pleurisy
#8
H Xu, J R Liu, S Y Zhao
Objective: To summarize the clinical diagnostic essentials of pediatric tuberculous pleurisy so as to reduce the misdiagnosis rate. Method: A retrospective study was conducted on 113 cases of tuberculous pleurisy who were seen from August 2006 to September 2014 in the second Department of Respiratory Medicine, Beijing Children's Hospital Affiliated to Capital Medical University. Meanwhile, another 113 cases of children over 5 years of age with mycoplasma pneumoniae pneumonia complicated with pleural effusion were randomly selected as control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28728060/clinical-neurophysiology-of-prolonged-disorders-of-consciousness-from-diagnostic-stimulation-to-therapeutic-neuromodulation
#9
REVIEW
Aldo Ragazzoni, Massimo Cincotta, Fabio Giovannelli, Damian Cruse, G Bryan Young, Carlo Miniussi, Simone Rossi
The identification of signs of awareness in patients with prolonged disorders of consciousness (DoC) after severe brain injury is a challenging task for clinicians. Differentiating on behavioural examination the vegetative state (VS) from the minimally conscious state (MCS) can lead to a high misdiagnosis rate. Advanced neuroimaging and neurophysiological techniques can supplement clinical evaluation by providing physiological evidence of brain activity. However, an open issue remains whether these empirical results are directly or indirectly associated with covert consciousness and limitations emerge for their diagnostic application at the single-patient level...
June 29, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28726111/glucokinase-mutations-in-pediatric-patients-with-impaired-fasting-glucose
#10
C Aloi, A Salina, N Minuto, R Tallone, F Lugani, A Mascagni, O Mazza, M Cassanello, M Maghnie, G d'Annunzio
AIMS: Our aim was to detect the frequency of glucokinase (GCK) gene mutations in a cohort of patients with impaired fasting glucose and to describe the clinical manifestations of identified variants. We also aimed at predicting the effect of the novel missense mutations by computational approach. METHODS: Overall 100 unrelated Italian families with impaired fasting glucose were enrolled and subdivided into two cohorts according to strict and to mild criteria for diagnosis of maturity-onset diabetes of the young (MODY)...
July 19, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28724826/bilateral-normal-tension-glaucoma-can-this-be-nutritional
#11
Sirisha Senthil, Kiranmaye Turaga
Normal tension glaucoma (NTG) also known as low tension glaucoma, presents with optic nerve head and visual field damage in the absence of high intraocular pressure (<21 mmHg). There are several patients of NTG seen in our clinics who have repeatable visual field defects, which may or may not correlate with the disc appearance, but are labeled as glaucoma. Ruling out ischemic, nutritional, and other causes of one-time damage are important before diagnosing an NTG. We report 3 such cases that were misdiagnosed and referred as NTG...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28723771/malignant-melanoma-misdiagnosed-as-diabetic-foot-ulcer-a-case-report
#12
Wei Gao, Dawei Chen, Xingwu Ran
RATIONALE: Acral lentiginous melanoma (AML) does not exhibit the classic signs of malignant melanoma. ALM is frequently misdiagnosed because of its unusual sites and atypical clinical morphologies, which lead to poor prognosis. PATIENT CONCERNS: A female patient aged 78 years was presented to our center with two ulcers on her right foot. Diabetic foot ulcer was considered as the primary diagnosis. The ulcers failed to improve after 2 weeks' therapy. DIAGNOSES: An incisional biopsy of the lesion revealed malignant melanoma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28721092/hemicrania-continua-clinical-review-diagnosis-and-management
#13
REVIEW
Sanjay Prakash, Payal Patel
Hemicrania continua (HC) is an indomethacin-responsive primary headache disorder which is currently classified under the heading of trigeminal autonomic cephalalgias (TACs). It is a highly misdiagnosed and underreported primary headache. The pooled mean delay of diagnosis of HC is 8.0 ± 7.2 years. It is not rare. We noted more than 1000 cases in the literature. It represents 1.7% of total headache patients attending headache or neurology clinic. Just like other TACs, it is characterized by strictly unilateral pain in the trigeminal distribution, cranial autonomic features in the same area and agitation during exacerbations/attacks...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#14
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28719480/a-rare-pediatric-case-of-posttraumatic-pseudoaneurysm-case-report-and-literature-review
#15
Ada Gu, April J Kam
Posttraumatic pseudoaneurysms are extremely rare in pediatric populations. In many cases, pseudoaneurysms may be confused with abscesses, epidermoid cysts, arteriovenous fistula, foreign objects, and ganglion cysts, as well as tumors. They are associated with distinguishing findings of "pulsatile mass, a palpable thrill, and an audible to-and-fro murmur" (1), which can be confirmed by various imaging techniques. In this report, we describe the case of a 4-year-old boy who presented to the pediatric emergency department 3 weeks after falling and subsequently getting cut by glass...
July 17, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28719466/dedifferentiated-liposarcoma-with-epithelioid-epithelial-features
#16
Naohiro Makise, Akihiko Yoshida, Motokiyo Komiyama, Fumihiko Nakatani, Kan Yonemori, Akira Kawai, Masashi Fukayama, Nobuyoshi Hiraoka
Dedifferentiated liposarcoma (DDLPS) demonstrates a variety of growth patterns, and their histologic resemblance to other spindle cell mesenchymal tumors has been widely recognized. However, epithelioid morphology in DDLPS has only rarely been documented. Here, we report 6 cases of DDLPS with striking epithelioid/epithelial features. The patients were 5 men and 1 woman with a median age of 61 years. All tumors were located in the internal trunk. During follow-up of 1 to 41 months, local recurrence, distant metastases, and tumor-related death occurred in 4, 2, and 4 patients, respectively...
July 20, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28718682/genetic-screening-of-scnn1b-and-scnn1g-genes-in-early-onset-hypertensive-patients-helps-to-identify-liddle-syndrome
#17
Kun-Qi Yang, Chao-Xia Lu, Peng Fan, Ying Zhang, Xu Meng, Xue-Qi Dong, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
BACKGROUND: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. OBJECTIVES: To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. METHODS: Genetic analysis of the C-terminus of SCNN1B and SCNN1G genes was conducted in an adolescent, with treatment-resistant hypertension and hypokalemia, who was suspected of having Liddle syndrome, and his family members...
July 18, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28718340/characterization-of-sepsis-and-sepsis-associated-encephalopathy
#18
Qing Feng, Yu-Hang Ai, Hua Gong, Long Wu, Mei-Lin Ai, Song-Yun Deng, Li Huang, Qian-Yi Peng, Li-Na Zhang
BACKGROUND: Sepsis and sepsis-associated encephalopathy (SAE) are common intensive care unit (ICU) diseases; the morbidity and mortality are high. The present study analyzed the sensitivity of different diagnostic criteria of sepsis 1.0 and 3.0, epidemiological characteristics of sepsis and SAE, and explored its risk factors for death, short-term, and long-term prognosis. METHODS: The retrospective study included patients in ICU from January 2015 to June 2016. After excluding 58 patients, 175 were assigned to either an SAE or a non-SAE group (patients with sepsis but no encephalopathy)...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28717707/misdiagnosis-of-cancer-as-tuberculosis-in-low-to-middle-income-countries-a-tip-of-the-iceberg
#19
Abdul Hannan
No abstract text is available yet for this article.
August 2016: Journal of Global Oncology
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#20
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
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