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https://www.readbyqxmd.com/read/28214061/open-physeal-fracture-of-the-distal-phalanx-of-the-hallux-case-study-diagnosis-and-management
#1
Brandon Morris, Scott Mullen, Paul Schroeppel, Bryan Vopat
Open physeal fractures of the distal phalanx of the hallux are the lesser described counterpart to the same fracture of the finger, known by its eponym as a "Seymour fracture". Displaced Salter-Harris phalangeal fractures present with a concomitant nailbed or soft tissue injury. Often these fractures occur in the summer months when open-toe footwear can be worn, however, they may occur indoors as well. Frequently, the injury results from direct axial load of the toe, or "stubbing", which causes the fracture and associated soft tissue injury...
February 6, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#2
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28212199/caregiver-fabricated-illness-in-a-child-a-case-report-of-three-siblings
#3
Mohamed Yassine Braham, Maher Jedidi, Youssef Chkirbene, Imene Hmila, Mohamed Cherif ElKhal, Mohamed Kamel Souguir, Mohamed Ben Dhiab
Caregiver-fabricated illness in a child is a form of child maltreatment caused by a caregiver inducing a child's illness, leading to unnecessary and potentially harmful medical procedures and treatments. This condition can result in significant morbidity and mortality. We present the case of three siblings in Tunisia who were poisoned with chloralose by their own mother. The symptoms that the children presented with led to misdiagnoses, which resulted in the death of two of the children. Characteristics of the clinical presentation are articulated, followed by a discussion of the legal measures that apply to the offender and the role of physicians, nurses, and medicolegal experts involved in such a complex medical situation...
January 2017: Journal of Forensic Nursing
https://www.readbyqxmd.com/read/28212124/extracranial-meningioma-presenting-as-an-eyebrow-mass
#4
Do Hun Lee, Ho Seup Sim, Jae Ha Hwang, Kwang Seog Kim, Sam Yong Lee
Meningiomas originate in the central nervous system and are the most common intracranial benign tumor. However, although rarely, they can develop extracranially. Primary extracranial meningiomas are frequently misdiagnosed, resulting in inappropriate clinical management. The most common sites of extracranial meningiomas include the skull, scalp, orbit, nose, paranasal sinuses, middle ear, neck, and skin. A 77-year-old woman presented with a mass on her left eyebrow. Computed tomography revealed an enhancing soft tissue mass in the left frontal area...
February 16, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28210559/pyoderma-gangrenosum-following-autologous-breast-reconstruction
#5
Prateush Singh, Sami H Tuffaha, Sanford H Robbins, Steven C Bonawitz
Pyoderma gangrenosum (PG) is an uncommon disorder characterized by the development of painful cutaneous ulceration, commonly precipitated by dermal injury at surgical sites. It is a diagnostic challenge as it manifests as necrotizing wounds which are commonly misdiagnosed as postoperative wound infection or ischemia. We discuss the clinical features and histopathological findings that allow for rapid identification of PG following autologous breast reconstruction and suggest an algorithm to aid diagnosis.
February 2017: Gland Surgery
https://www.readbyqxmd.com/read/28210521/the-right-to-die-in-chronic-disorders-of-consciousness-can-we-avoid-the-slippery-slope-argument
#6
REVIEW
Rocco Salvatore Calabrò, Antonino Naro, Rosaria De Luca, Margherita Russo, Lory Caccamo, Alfredo Manuli, Alessia Bramanti, Placido Bramanti
Managing individuals with chronic disorders of consciousness raises ethical questions about the appropriateness of maintaining life-sustaining treatments and end-of-life decisions for those who are unable to make decisions for themselves. For many years, the positions fostering the "sanctity" of human life (i.e., life is inviolable in any case) have led to maintaining life-sustaining treatments (including artificial nutrition and hydration) in patients with disorders of consciousness, allowing them to live for as long as possible...
November 2016: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/28209770/are-patients-with-loeys-dietz-syndrome-misdiagnosed-with-beals-syndrome
#7
Rebecca Woolnough, Andrew Dhawan, Kimberly Dow, Jagdeep S Walia
Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28208866/fatal-toxic-megacolon-in-a-child-of-hirschsprung-disease
#8
Shiwani R Garg, Pragati A Sathe, Annapurna C Taware, Ketaki M Surve
Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is associated with gross dilatation of the colon and profound toxaemia, the combination being termed toxic megacolon. Because of its relative rarity, we report a case of 10-year-old child who had a history of chronic constipation for nine years. He later developed complications and presented to the emergency department with toxic megacolon, a rare occurrence due to neglected constipation...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207531/delayed-effort-induced-swelling-with-myofasciitis-and-systemic-manifestations-a-so-far-unrecognized-type-of-pressure-induced-urticaria
#9
Anne-Claire Bursztejn, Dan Lipsker
Diseases characterized by recurrent symptoms with prolonged intervals without any clinical manifestations can pose diagnostic difficulties. Some diagnoses will be obvious but other situations can be very challenging.To nosologically delineate a new entity characterized by recurrent flares of induration of the forearms and legs with swelling of the extremities accompanied by intense fatigue and variable other symptoms.Retrospective observational study of patients recorded from 2000 to 2015. All patients included were seen during a consultation at the Dermatology Department of the University Hospital of Strasbourg, France...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28207528/idiopathic-retroperitoneal-fibrosis-causing-unilateral-ureteral-and-sigmoid-colon-obstruction-a-case-report
#10
Ting Yan, Yujuan Wang, Zhijun Liu, Xiaolei Zhang, Qian Wu, Mingrong Xi
OBJECTIVE: The present report aimed to present a unique case of idiopathic retroperitoneal fibrosis (RPF) presenting features of unilateral ureteral and sigmoid colon obstruction. RPF is a rare disorder with unclear etiology. CASE REPORT: A 43-year-old female had a 10-day history of lower right abdominal and lumbar pain. Gynecological examination, ultrasound, and computed tomography (CT) were all suggestive of right ovarian tumor. An enhanced CT showed right-sided hydronephrosis...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#11
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28205230/forensic-identification-of-bipartite-patella-misdiagnosed-as-patella-fracture
#12
Jingyuan Ma, Fang Shi, Chongya Huang, Shanzhi Gu
Bipartite patella is recognized as a developmental anomaly of ossification. Most of them are asymptomatic and are discovered incidentally. Bipartite patella is sometimes misdiagnosed as a patella fracture, because the x-ray images of both these conditions may appear very similar. In this case, the patient complained of left knee pain after x-ray films revealed a fracture-like line in the left patella. The patient was then diagnosed as having a patella fracture. In China, the injury degree is categorized as serious injury, minor injury, and trivial injury...
February 15, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28203198/surgical-management-of-a-patient-with-anterior-megalophthalmos-lens-subluxation-and-a-high-risk-of-retinal-detachment
#13
María Carmen Guixeres Esteve, Augusto Octavio Pardo Saiz, Lucía Martínez-Costa, Samuel González-Ocampo Dorta, Pedro Sanz Solana
The early development of lens opacities and lens subluxation are the most common causes of vision loss in patients with anterior megalophthalmos (AM). Cataract surgery in such patients is challenging, however, because of anatomical abnormalities. Intraocular lens dislocation is the most common postoperative complication. Patients with AM also seem to be affected by a type of vitreoretinopathy that predisposes them to retinal detachment. We here present the case of a 36-year-old man with bilateral AM misdiagnosed as simple megalocornea...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28202701/chronobiology-differs-between-men-and-women-with-cluster-headache-clinical-phenotype-does-not
#14
Nunu Lund, Mads Barloese, Anja Petersen, Bryan Haddock, Rigmor Jensen
OBJECTIVE: To describe differences between the sexes in the phenotype of cluster headache (CH) in a large, well-characterized clinical CH population. METHODS: Patients from the Danish CH survey aged 18-65 years, diagnosed with CH according to International Classification of Headache Disorders, second edition, completed questionnaires and structured interviews. RESULTS: A total of 351 patients with CH participated, with a male:female ratio of 2:1...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202062/isolated-igg4-related-sclerosing-cholangitis-misdiagnosed-as-malignancy-in-an-area-with-endemic-cholangiocarcinoma-a-case-report
#15
Narongsak Rungsakulkij, Pattana Sornmayura, Penampai Tannaphai
BACKGROUND: The most common cause of perihilar obstruction is cholangiocarcinoma, especially in Thailand. Benign perihilar stricture represents less than 20% of cases. IgG4-related disease and IgG4-related sclerosing cholangitis, however, have been receiving increased recognition. Isolated IgG4-related sclerosing cholangitis is less common. The preoperative diagnosis of IgG4-related sclerosing cholangitis without pancreatic involvement is very difficult because the clinical presentation and preoperative evaluation are extremely difficult to distinguish from perihilar cholangiocarcinoma...
February 15, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28198550/birth-injuries-to-growth-plates-a-sheep-in-wolves-clothing
#16
Jerrin Varghese, Matthew Teng, Mingqian Huang, Dvorah Balsam
Growth plate injuries (Salter-Harris type 1 or physeal fractures) of the long bones in the newborn are easily misdiagnosed as joint fractures with dislocations due to their nonossified epiphyses on plain radiographs. Diagnosis with musculoskeletal ultrasound (US) is advantageous due to its ability to visualize the nonossified epiphysis. We present two cases of humeral growth plate fractures in newborns, one at the shoulder (proximal humerus) and the other at the elbow (distal humerus). These cases emphasize the importance of quick and noninvasive diagnosis with US to avoid unnecessary intervention...
February 15, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28197925/giant-prolactinoma-presenting-as-a-base-of-skull-tumor-with-nasopharyngeal-extension-a-potential-diagnostic-pitfall-in-neuroendocrine-lesions-of-the-base-of-skull
#17
Amy Prawira, Dorothy Lazinski, Lillian L Siu, Bayardo Perez-Ordonez
Pituitary adenomas presenting in uncommon anatomical locations are commonly misdiagnosed. Dramatic clinical presentation with hemorrhage and infarction, along with a lack of endocrine symptoms may further confound the diagnosis in some patients as illustrated in one of our two previously reported cases of non-small cell neuroendocrine carcinoma of the sinonasal tract and nasopharynx. This report presents the clinical progress of case number 2, which has a revised diagnosis of giant lactotroph pituitary adenoma...
February 14, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28197875/mri-us-or-real-time-virtual-sonography-in-the-evaluation-of-adenomyosis
#18
Valeria Vinci, Matteo Saldari, Maria Eleonora Sergi, Silvia Bernardo, Giuseppe Rizzo, Maria Grazia Porpora, Carlo Catalano, Lucia Manganaro
PURPOSE: Real-time virtual sonography (RVS) allows displaying and synchronizing real-time US and multiplanar reconstruction of MRI images. The purpose of this study was to evaluate the feasibility and ability of RVS to assess adenomyosis since literature shows US itself has a reduced diagnostic accuracy compared to MRI. MATERIALS AND METHODS: This study was conducted over a 4-month period (March-June 2015). We enrolled in the study 52 women with clinical symptoms of dysmenorrhea, methrorragia and infertility...
February 15, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28197035/giant-renal-angiomyolipoma-masquerading-as-a-wilms-tumor
#19
Anjan Kumar Dhua, Abhishek Ranjan, Sandeep Agarwala, Veereshwar Bhatnagar, Sandeep R Mathur, Kandasamy Devasenathipathy
Renal Angiomyolipoma (AML) is not commonly seen in the pediatric age group other than patients of tuberous sclerosis where in they can have renal AMLs within the first decade with bilateral in involvement. Diagnosis of renal AML can generally be made by the current radiological modalities in the appropriate clinical setting, but it can be mistaken for other tumors when it is large and has low-fat content. Herein we report a case of giant renal AML that was initially misdiagnosed as a Wilms tumor in a 12-year-old girl...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28197013/adolescent-onset-wilson-s-disease-misdiagnosed-as-psychosis
#20
Kishore Dudani, Ram Kumar Solanki, Pradeep Sharma, Dharamdeep Singh
No abstract text is available yet for this article.
October 2016: Indian Journal of Psychiatry
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