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https://www.readbyqxmd.com/read/28922056/secondary-defects-detected-by-transmission-electron-microscopy-in-primary-ciliary-dyskinesia-diagnostics
#1
Mellisa Dixon, Amelia Shoemark
Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. A diagnosis is ultimately confirmed by the presence of a hallmark defect identified by transmission electron microscopy or biallelic variants in a known PCD gene...
September 18, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28919761/effects-of-bromadiolone-poisoning-on-the-central-nervous-system
#2
Meiling Wang, Yanfeng Yang, Yiwei Hou, Wenbin Ma, Rui Jia, Jinbo Chen
Cases of rodenticide poisoning (second-generation long-acting dicoumarin rodenticide, superwarfarin) have occasionally been reported. The main symptoms of bromadiolone poisoning are skin mucosa hemorrhage, digestive tract hemorrhage, and hematuresis. However, the symptoms of central nervous system toxicity have rarely been reported. Our case reports on a 41-year-old male who had no contact with bromadiolone. His main symptoms were dizziness, unsteady gait, and abnormal behavior. Laboratory test results revealed the presence of bromadiolone in his blood and urine, a longer prothrombin time, activated partial thromboplastin time, and a high international normalized ratio...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28918619/discoid-lupus-erythematosus-presenting-as-upper-eyelid-edema-and-erythema
#3
Abbas Darjani, Rana Rafiei, Alireza Mesbah, Razieh Golmohammadi, Behnam Rafiee, Mehriar Movaseghi
Discoid Lupus Erythematosus (DLE) is an autoimmune disorder that usually occurs on sun exposed areas of head and neck. Infrequently it could be presented by palpebral involvement and rarely unilateral upper eye lid edema and erythema have been reported as the sole manifestation of DLE. We describe a 38-year-old woman with chronic left upper eye lid edema and erythema from one year ago which was induced by steroid injection for left eyebrow alopecia. Histopathologic and direct immunofluorescent studies were made on palpebral skin tissue and confirmed DLE diagnosis...
July 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28917546/parosteal-osteosarcoma-of-the-distal-radius-mimicking-an-osteochondroma-a-diagnostic-misadventure
#4
Sahil Sanghavi, Abhijeet Wahegaonkar, Yogesh Panchwagh, Amit Kharat
We present a case of a parosteal osteosarcoma mimicking an osteochondroma with atypical clinical features, radiographic findings, and histological examination. This report serves to exemplify the importance of recognizing the similarities between these 2 entities and other peculiar features that will help to differentiate between sessile osteochondromas and parosteal osteosarcomas, to prevent misdiagnosis.
September 14, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28917276/stereotactic-biopsy-platforms-with-intraoperative-imaging-guidance
#5
REVIEW
Ahmed Mohyeldin, J Bradley Elder
The resolution and real-time navigation of intraoperative MRI (iMRI) has been leveraged in neurosurgery. We review frameless stereotactic biopsy platforms and focus on emerging technology integrating intraoperative MRI with frameless stereotaxy. Brain biopsy with iMRI allows for an accurate tissue sample with the ability to correct cannula trajectory during surgery, eliminating misdiagnosis secondary to faulty targeting. This technology allows for a percutaneous approach avoiding large incisions, obviates the need for frozen tissue evaluation, has the potential to reduce unnecessary specimen harvesting and operating room time, and optimizes safety of targeting deep brain lesions...
October 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/28917138/pulmonary-venous-anomalies-causing-misdiagnosis-of-pulmonary-arteriovenous-malformations
#6
Cheng Ting Lin, Stefan Loy Zimmerman, Sally Elizabeth Mitchell, Elliot K Fishman
PURPOSE: To investigate pulmonary venous anomaly as a cause of pulmonary arteriovenous malformation (PAVM) misdiagnosis. MATERIALS AND METHODS: We reviewed adult patients within a 7.5-year period with CT scans initially diagnosed with PAVM and subsequent conventional pulmonary angiograms. RESULTS: Pulmonary arteriography showed no PAVM on arterial phase for 10 out of 99 patients, comprising the misdiagnosed group. Four misdiagnosed patients had pulmonary venous anomalies and six had nodular lesions on CT...
September 8, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28915974/rapid-and-accurate-intraoperative-pathological-diagnosis-by-artificial-intelligence-with-deep-learning-technology
#7
Jing Zhang, Yanlin Song, Fan Xia, Chenjing Zhu, Yingying Zhang, Wenpeng Song, Jianguo Xu, Xuelei Ma
Frozen section is widely used for intraoperative pathological diagnosis (IOPD), which is essential for intraoperative decision making. However, frozen section suffers from some drawbacks, such as time consuming and high misdiagnosis rate. Recently, artificial intelligence (AI) with deep learning technology has shown bright future in medicine. We hypothesize that AI with deep learning technology could help IOPD, with a computer trained by a dataset of intraoperative lesion images. Evidences supporting our hypothesis included the successful use of AI with deep learning technology in diagnosing skin cancer, and the developed method of deep-learning algorithm...
September 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28914619/there-are-no-magic-bullets-in-hematopathology-even-immunostains-for-cd20-and-cd3-can-get-you-into-trouble
#8
Judith A Ferry
Immunohistochemistry is a powerful tool for the diagnosis and subclassification of hematolymphoid neoplasms. However, the expression of certain markers is not always as expected, and unusual patterns of staining can lead to misdiagnosis. CD20 and CD3 are our most commonly used markers for identification of B cells and T cells, respectively, and they almost always yield reliable, specific staining. This discussion focuses on diagnostic pitfalls related to the use of immunohistochemistry for CD20 and CD3 in hematopathology, and specifically on diagnostic challenges that arise when (1) CD20 is not expressed in B-cell lymphomas, when (2) CD20 is expressed in plasma cell neoplasms and T-cell lymphomas, and when (3) CD3 is expressed in B-cell lymphomas and Hodgkin lymphoma...
September 13, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28914233/lessons-from-two-cases-of-radiation-induced-skin-injuries-in-fluoroscopic-procedures-in-bulgaria
#9
Desislava Kostova-Lefterova, Jenia Vassileva, M M Rehani
Radiation-induced injuries to patient skin as a result of fluoroscopy guided interventional procedures are infrequently reported, often misdiagnosed and there is a need to learn lessons from every injury. Methods: This paper describes two cases of radiation induced skin injuries that are, to the best of our knowledge, the first ever reported cases from Bulgaria and possibly from Eastern Europe, and would thus have educational value. Results: The important messages from the skin injuries reported here are: lack of awareness among part of the interventional specialists about the potential for radiation induced skin injury, misdiagnosis after injury happened because of lack of awareness and knowledge among general physicians, dermatologists and surgeons who followed up cases of skin injuries; lack of system to monitor patients with relatively high exposure; important role played by the medical physicist in diagnosing the injury and overall in initiating actions; role of training and informational material displayed in interventional facilities...
September 15, 2017: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/28912730/diagnosis-of-swimming-induced-pulmonary-edema-a-review
#10
REVIEW
Hannes Grünig, Pantelis T Nikolaidis, Richard E Moon, Beat Knechtle
Swimming induced pulmonary edema (SIPE) is a complication that can occur during exercise with the possibility of misdiagnosis and can quickly become life threatening; however, medical literature infrequently describes SIPE. Therefore, the aim of this review was to analyse all individual cases diagnosed with SIPE as reported in scientific sources, with an emphasis on the diagnostic pathways and the key facts resulting in its diagnosis. Due to a multifactorial and complicated pathophysiology, the diagnosis could be difficult...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28910871/-mucosa-associated-lymphoid-tissue-lymphoma-in-children-and-adolescents-a-clinicopathologic-study-of-5-cases
#11
J Hu, J L Xie, Z J Zhou, X G Zhou
Objective: To investigate the pathological features and clinical manifestations of mucosa-associated lymphoid tissue (MALT) lymphoma in children and adolescents. Methods: Five cases of MALT lymphoma in children were investigated by morphology and immunophenotyping along with clinical follow-up. Results: Five cases of MALT lymphoma occurred in the antrum, orbit, parotid gland and nasopharynx. All patients had no B symptoms and only one patient showed a local mass with ulcer. One case presented with cervical lymph node enlargement, and 4 cases showed no evidence of lymphadenopathy...
September 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28906044/specific-ige-to-peanut-2s-albumin-ara-h-7-has-a-discriminative-ability-comparable-to-ara-h-2-and-6
#12
Mark A Blankestijn, Henny G Otten, Waltraud Suer, Alf Weimann, Edward F Knol, André C Knulst
BACKGROUND: Little is known on the clinical relevance of peanut 2S albumin Ara h 7. OBJECTIVE: To investigate the discriminative ability of Ara h 7 in peanut allergy and assess the role of cross-reactivity between Ara h 2, 6 and Ara h 7 isoforms. METHODS: Sensitization to recombinant peanut storage proteins Ara h 1, 2, 3, 6 and 7 was assessed using a line blot in sera from 40 peanut tolerant and 40 peanut allergic patients, based on food challenge outcome...
September 14, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28900550/bilateral-mesenchymal-hamartoma-of-the-chest-wall-in-a-3-month-old-boy-a-case-report-and-review-of-the-literature
#13
Mona Alfaraidi, Hossam Alaradati, Irfan Mamoun, Shamayel Mohammed
Mesenchymal hamartoma of the chest wall is a well-recognized but extremely rare entity. This entity is believed to be benign with no propensity for invasion or metastasis. Although the lesion manifests with alarming aggressive clinical, radiological, and histological features, it is considered benign and carries an excellent outcome. Therefore it is important to recognize this benign entity to avoid the possible misdiagnosis of malignancy and the unnecessary use of chemotherapy. We present a case of bilateral multifocal mesenchymal hamartomas of the chest wall in a male infant and a literature review of this entity...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28900444/more-than-a-decade-of-misdiagnosis-of-alternating-hemiplegia-of-childhood-with-catastrophic-outcome
#14
Hussein Algahtani, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, Ahad Abdullah
Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28898454/reverberation-and-multiple-shadow-artifacts-recorded-from-patients-with-intra-pericardial-centrifugal-continuous-flow-left-ventricular-assist-devices
#15
Tolga Sinan Güvenç, Yalçın Velibey, Özge Güzelburç, Göksel Çinier, Rengin Çetin Güvenç, Özlem Yıldırımtürk
Artifacts are by-products of ultrasound imaging that may cause confusion or misdiagnosis if not interpreted correctly. There are, however, several disorders where a specific pattern of artifacts can aid in diagnosis, especially when the object in question cannot be visualized directly. In this manuscript, we report two patients with reverberation and shadow artifacts originating from the housing and the propeller of a continuous-flow intra-pericardial left ventricular assist device. Visualization of the artifacts required modified transthoracic views, so these artifacts should not pose a diagnostic challenge during a routine echocardiographic evaluation...
September 12, 2017: Echocardiography
https://www.readbyqxmd.com/read/28891259/mapping-biopsy-for-buruli-ulcer-self-medicated-with-occlusive-dressing
#16
Takuma Hayami, Toshifumi Takahashi, Takeshi Kato, Toshihiro Tanaka, Noriki Fujimoto
Buruli ulcer is the third most common mycobacterial infection next to tuberculosis and leprosy caused by Mycobacterium ulcerans. Although it affects the skin, subcutaneous tissues, muscles and sometimes bones, there is no reliable evidence to determine the extent of debridement. We present here a case of Buruli ulcer treated successfully with a preoperative mapping biopsy procedure, which had been self-medicated with occlusive dressing. Because Buruli ulcer is accompanied by subtle pain, patients and clinicians tend to initially treat the ulcer with occlusive dressing therapy, which leads to the misdiagnosis of Buruli ulcer as a common bacterial infection only judging from bacterial culture of the surface of the ulcer...
September 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28889138/pulmonary-actinomycosis-masquerading-as-lung-cancer-a-case-report
#17
Y L Boo, K N How, D S Pereira, P W Chin, K K Foong, S Y Lim
Pulmonary actinomycosis is a rare yet important and challenging diagnosis to make. It is commonly confused with other lung diseases, such as tuberculosis and bronchogenic carcinoma, leading to delay diagnosis or misdiagnosis. A 49-year-old man presented with a chronic cough, hemoptysis, and pleuritic chest pain. His initial imaging studies including computed tomography (CT) was suggestive of bronchogenic carcinoma. A subsequent CTguided biopsy was consistent with pulmonary actinomycosis and excluded the possibility of bronchogenic carcinoma...
August 2017: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28888074/early-recovery-of-circulating-immature-b-cells-in-b-lymphoblastic-leukemia-patients-after-cd19-targeted-car-t-cell-therapy-a-pitfall-for-minimal-residual-disease-detection
#18
Wenbin Xiao, Dalia Salem, Catherine McCoy, Daniel Lee, Nirali N Shah, Maryalice Stetler-Stevenson, Constance M Yuan
BACKGROUND: CD19-targeted chimeric-antigen receptor-modified T-cells (CAR-T) are promising in the treatment of refractory B-lymphoblastic leukemia (B-ALL). Minimal residual disease (MRD) detection by multicolor flow cytometry (FCM) is critical to distinguish B-ALL MRD from regenerating, non-neoplastic B-cell populations. METHODS: FCM was performed on samples from 9 patients with B-ALL treated with CAR-T. RESULTS: All 9 patients showed response to CAR-T...
September 9, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28886329/a-case-of-igg4-related-retroperitoneal-fibrosis-with-multiple-involvement
#19
Y-K Zheng, N-Y Gu, J Wu, X Fang, C Zhang, Q-Y Li
To increase awareness of IgG4-related retroperitoneal fibrosis (IgG4-RRPF) and reduce clinical misdiagnosis. We report a 79-year-old man with multiple organs involvement of IgG4-RRPF, who developed right lower extremity edema, hemoptysis and fever. The abdomen computed tomography (CT) scan image showed lymph nodes enlargement. The positron emission tomography/CT scan image showed pancreatic malignancy with multiple nodal lymph node metastasis, lung fibroblast proliferation, and right lung apex bullae. The chest CT scan image showed pulmonary multiple lymph nodes with calcification in the mediastinum...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28885340/a-case-report-of-lung-adenocarcinoma-with-polyserous-effusions-as-the-onset-symptom
#20
Ping Han, Ruipin Yao, Dongxia Zhai, Chao Cheng, Fangyong Yang, Shuai Sun, Danying Zhang, Chaoqin Yu
RATIONALE: Coexistence of lung adenocarcinoma and polyserous effusions is quite rare. This complexity of etiology adds difficulty to the diagnosis and is likely to cause misdiagnosis and maldiagnosis. PATIENT CONCERNS: A 43-year-old woman was admitted with symptoms of dry cough, chest suffocation, polyserous effusions, and generalized edema. Only a small number of heterocysts were detected in the ascites, and malignant cells were detected in the pleural and pericardial effusions...
September 2017: Medicine (Baltimore)
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