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https://www.readbyqxmd.com/read/28222436/recurrent-angioedema-occurrence-features-and-concomitant-diseases-in-an-italian-single-center-study
#1
Paola Triggianese, Maria Domenica Guarino, Chiara Pellicano, Mauro Borzi, Elisabetta Greco, Stella Modica, Caterina De Carolis, Roberto Perricone
BACKGROUND: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. METHODS: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated...
February 22, 2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28222415/young-adult-patient-with-headache-fever-and-blurred-vision
#2
Stavroula A Paschou, Konstantinos Tzioras, Vasiliki Trianti, Stavroula Lyra, Vasileios-Arsenios Lioutas, Andreas Seretis, Andromachi Vryonidou
BACKGROUND AND IMPORTANCE: This case highlights the fact that acute pituitary apoplexy may be misdiagnosed due to being confused with other entities exhibiting similar symptoms, such as meningitis or subarachnoid hemorrhage. CLINICAL PRESENTATION: A patient in his late 30s presented with sudden and severe frontal headache, fever, blurred vision, nausea, confusion, as well as oculomotor palsy (CN III) with partial ptosis of the left eyelid, dilated left pupil and left eye globe deviation inferiorly and laterally...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#3
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221292/dermatofibroma-of-the-eyelid-immunohistochemical-diagnosis
#4
Frederick A Jakobiec, Fouad R Zakka, Yufei Tu, Suzanne K Freitag
A 66-year-old man developed a painless 2 mm to 3 mm recurrent nodule at the left upper eyelid margin. Excision disclosed a spindle cell lesion without frank atypia or mitotic activity growing in a twisted fascicular pattern often referred to as storiform. All the surgical margins were involved with tumor. Immunohistochemistry demonstrated that many of the constituent spindle and dendritic tumor cells were CD34, factor XIIIa, and CD 163, the latter 2 being biomarkers for monocytic lineage. The lesion was diagnosed as a dermatofibroma rather than a fibrous histiocytoma, a term that should be reserved for more aggressive lesions of deeper fascial planes...
February 17, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28220287/the-yield-of-initial-conventional-mri-in-115-cases-of-angiographically-confirmed-spinal-vascular-malformations
#5
Amgad El Mekabaty, Carlos A Pardo, Philippe Gailloud
MRI is the primary screening tool for patients with myelopathy. The decision to obtain additional imaging, notably spinal angiography, is generally based on initial MRI findings. This study retrospectively analyzed the yield of initial MRI in a cohort of patients with angiographically confirmed vascular malformations. MRI obtained at symptom onset was available in 115 patients with either high-flow (29 cases) or low-flow (86 cases) vascular malformations. MRI was classified as "positive" when the report mentioned a vascular malformation or "negative" when considered normal or when another diagnosis was suggested...
February 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28219170/-supraorbital-cell-cerebrospinal-fluid-rhinorrhea-misdiagnosed-as-frontal-sinus-cerebrospinal-fluid-rhinorrhea-a-case-report
#6
N Ding, Y P Ba
No abstract text is available yet for this article.
February 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28218629/fever-induced-brugada-pattern-misdiagnosed-as-an-acute-myocardial-infarction
#7
David Tadin, Roberto Quintal
The Brugada syndrome is a rare condition associated with increased risk of ventricular tachyarrhythmias and sudden cardiac death (SCD). The Brugada pattern on electrocardiogram (EKG) is known to be revealed by several precipitants including febrile illnesses. The appearance of a Brugada pattern on EKG with fever may indicate an elevated risk of arrhythmia or sudden cardiac death. We report a case in which the electrocardiographic abnormality of Brugada pattern induced by sepsis was initially misinterpreted as a ST-segment elevation myocardial infarction (STEMI)...
January 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28217684/extrauterine-epithelioid-trophoblastic-tumor-in-hysterectomized-woman
#8
Ji-Hye Kim, Sun Kyung Lee, Soo Hyun Hwang, Jung-Sun Kim, Gun Yoon, Yoo-Young Lee, Tae-Joong Kim, Chel Hun Choi, Byoung-Gie Kim, Duk-Soo Bae, Jeong-Won Lee
Epithelioid trophoblastic tumor (ETT) is a very rare variant of gestational trophoblastic disease (GTD) which arises in reproductive age women with prior gestational history. Although abnormal vaginal bleeding is the most common symptom of ETT, there are no reported pathognomonic symptoms of ETT because of its rarity. ETT is similar to placental site trophoblastic tumor in terms of its slow growing characteristic and microscopic findings. Therefore, it could be misdiagnosed as placental site trophoblastic tumor or other types of GTD...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28217661/winged-scapula-caused-by-rhomboid-paralysis-a-case-report
#9
Maria Grazia Benedetti, Alessandro Zati, Silvia Bonfiglioli Stagni, Isabella Fusaro, Roberta Monesi, Roberto Rotini
Scapular winging secondary to dorsal scapular nerve (DSN) damage is an underestimated condition. It is often caused by entrapment of the nerve due to a hypertrophic middle scalene muscle, or by stretching of the DSN during traumatic movements. The condition has also been attributed to myofascial pain syndrome of the rhomboids with entrapment of the DSN. The non-specific symptomatology reported by patients is often incorrectly diagnosed, and this can result in a high level of disability of the upper limb. A clinical case of misdiagnosed dorsal scapula entrapment is presented...
October 2016: Joints
https://www.readbyqxmd.com/read/28217024/kikuchi-fujimoto-disease-with-18f-fludeoxyglucose-uptake-in-cervical-lymph-nodes-on-dual-time-point-imaging-positron-emission-tomography-computed-tomography-mimicking-malignant-disease
#10
Ken-Ichi Aoyama, Mitsunobu Otsuru, Masahiro Uchibori, Yoshihide Ota
Kikuchi-Fujimoto disease (KFD) is a benign but self-limiting disorder. However, KFD is often misdiagnosed as a malignant disease. Although 18F-fludeoxyglucose (FDG) uptake on dual-time-point imaging (DTPI) positron emission tomography (PET)/computed tomography (CT) is useful in distinguishing malignant from benign disease, the latter sometimes mimics malignancy on DTPI PET/CT, resulting in a misdiagnosis. Here, we describe the case of a 30-year-old woman who complained of cervical lymphadenopathy. PET showed increased FDG uptake in multiple lymph nodes, with a maximum standardized uptake value (SUVmax) of 19...
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28216722/interdepartmental-dermatology-characteristics-and-impact-of-dermatology-inpatient-referrals-at-a-teaching-hospital-in-eastern-india
#11
Satyendra Nath Chowdhury, Indrasish Podder, Abanti Saha, Debabrata Bandyopadhyay
BACKGROUND: Dermatology is primarily considered to be an outpatient-centered specialty. However, several inpatient admissions to other specialties require dermatologic consultation for optimum management. AIMS: To analyze the causes of inpatient dermatology referrals, departments sending referrals, and impact of dermatology consultation on patient management. MATERIALS AND METHODS: We conducted a cross-sectional study by analyzing the records of 486 patient referrals over a 4-year period...
January 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28216508/-idiopathic-mesenteric-phlebosclerosis-one-case-report-and-literature-review
#12
Yonghong Jiang, Shan Huang, Kequan Chen, Xueqing Chen
Idiopathic mesenteric phlebosclerosis (IMP) is a rare disease and it is easy to be misdiagnosed, which is characterized by intestinal obstruction symptoms, such as abdominal pain, bloating and vomiting. In this study, a case of IMP was observed and the literatures were reviewed. Computed tomography shows funicular high-density shadow and vascular calcification shadow along the vessels around the bowels. Narrow band imaging (M-NBI) endoscopy revealed the disappeared honeycomb capillary, the disordered microvascular structure and the increased density of blood vessels...
January 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28216256/kleine-levin-syndrome
#13
REVIEW
Olufunke Afolabi-Brown, Thornton B A Mason
Kleine-Levin syndrome (KLS) is a rare disorder characterized by discrete episodes of hypersomnia associated with cognitive and behavioural abnormalities, as well as normal alertness and function between episodes. The prevalence of KLS may be underestimated as it is often misdiagnosed and managed as another sleep disorder, neurological disorder or psychiatric condition. KLS is more typically seen in adolescence than at other ages, and is more common in males than in females. There are currently neither standard biomarkers nor specific imaging study findings, making the diagnosis of KLS a challenge...
December 23, 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28215446/a-predictive-model-for-diagnosis-of-lower-extremity-cellulitis-a-cross-sectional-study
#14
Adam B Raff, Qing Yu Weng, Jeffrey M Cohen, Nicole Gunasekera, Jean-Phillip Okhovat, Priyanka Vedak, Cara Joyce, Daniela Kroshinsky, Arash Mostaghimi
BACKGROUND: Cellulitis has many clinical mimickers (pseudocellulitis), which leads to frequent misdiagnosis. OBJECTIVE: To create a model for predicting the likelihood of lower extremity cellulitis. METHODS: A cross-sectional review was performed of all patients admitted with a diagnosis of lower extremity cellulitis through the emergency department at a large hospital between 2010 and 2012. Patients discharged with diagnosis of cellulitis were categorized as having cellulitis, while those given an alternative diagnosis were considered to have pseudocellulitis...
February 16, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28214061/open-physeal-fracture-of-the-distal-phalanx-of-the-hallux-case-study-diagnosis-and-management
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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