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https://www.readbyqxmd.com/read/29455318/expression-of-terminal-deoxynucleotidyl-transferase-tdt-in-classical-seminoma-a-potential-diagnostic-pitfall
#1
Alexander Brobeil, Florian Wagenlehner, Stefan Gattenlöhner
Seminomas are the most frequent testicular tumors and in spite of specific markers some histological subtypes can be diagnostically challenging due to the potential overlap of morphologic features and a variant antigen expression. Terminal deoxynucleotidyl transferase (TdT) is a DNA polymerase present in hematogones, thymic T cells, lymphoblastic lymphoma/leukemia (LBL), and in some cases of acute myeloid leukemia but so far has not been described to be expressed in seminomas. After observing a reactivity of TdT in one case of seminoma, we analyzed ten additional tumors by immunohistochemistry to determine their spectrum of reactivity for TdT...
February 18, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#2
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29453202/management-of-endocrine-disease-hyperandrogenic-states-in-women-pitfalls-in-laboratory-diagnosis
#3
Michel Pugeat, Ingrid Plotton, Aude Brac de la Perrière, Gerald Raverot, Henri Déchaud, Véronique Raverot
Measuring total testosterone level is the first-line approach in assessing androgen excess in women. The main pitfalls in measuring testosterone relate to its low concentration and to the structural similarity between circulating androgens and testosterone, requiring accurate techniques with high specificity and sensitivity. These goals can be achieved by immunoassay using a specific anti-testosterone monoclonal antibody, ideally after an extraction step. Liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) will be commonly used for measuring testosterone, providing optimal accuracy with a low limit of detection...
February 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29449443/sex-differences-in-ischemic-heart-disease-advances-obstacles-and-next-steps
#4
Niti R Aggarwal, Hena N Patel, Laxmi S Mehta, Rupa M Sanghani, Gina P Lundberg, Sandra J Lewis, Marla A Mendelson, Malissa J Wood, Annabelle S Volgman, Jennifer H Mieres
Evolving knowledge of sex-specific presentations, improved recognition of conventional and novel risk factors, and expanded understanding of the sex-specific pathophysiology of ischemic heart disease have resulted in improved clinical outcomes in women. Yet, ischemic heart disease continues to be the leading cause of morbidity and mortality in women in the United States. The important publication by the Institute of Medicine titled "Women's Health Research-Progress, Pitfalls, and Promise," highlights the persistent disparities in cardiovascular disease burden among subgroups of women, particularly women who are socially disadvantaged because of race, ethnicity, income level, and educational attainment...
February 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29435387/systemic-mastocytosis-the-difficult-patient-with-a-rare-disease-case-presentation-and-brief-review
#5
Daniel H Desmond, Mark G Carmichael
Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain...
February 2018: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29430704/malignant-mesothelioma-with-squamous-differentiation
#6
Hiroyuki Tanaka, Yutaka Akiyama, Akiko Kitamura, Nobuhiro Matsumoto, Masaki Tomita, Hiroaki Kataoka
We report the autopsy findings of a 58-year-old man with malignant mesothelioma in the left pleural cavity. The patient had a history of asbestos exposure, and the chest computed tomography on initial admission demonstrated an extrapleural sign suggesting a nodular lesion in the chest wall. However, no nodular lesions were detectable in either of his lungs. In spite of chemotherapy, the patient died 4 months after the initial admission. An autopsy revealed markedly thickened pleura in a large section of the left pleural cavity without visible intrapulmonary primary tumor lesions...
February 11, 2018: Histopathology
https://www.readbyqxmd.com/read/29422797/quality-is-the-key-for-emerging-issues-of-population-based-colonoscopy-screening
#7
REVIEW
Jin Young Yoon, Jae Myung Cha, Yoon Tae Jeen
Colonoscopy is currently regarded as the gold standard and preferred method of screening for colorectal cancer (CRC). However, the benefit of colonoscopy screening may be blunted by low participation rates in population-based screening programs. Harmful effects of population-based colonoscopy screening may include complications induced by colonoscopy itself and by sedation, psychosocial distress, potential over-diagnosis, and socioeconomic burden. In addition, harmful effects of colonoscopy may increase with age and comorbidities...
January 2018: Intestinal Research
https://www.readbyqxmd.com/read/29420982/multiparametric-mr-imaging-of-the-prostate-pitfalls-in-interpretation
#8
REVIEW
Stephen Thomas, Aytekin Oto
Multiparametric MR imaging is widely embraced for the diagnosis, staging, and surveillance of prostate cancer. However, normal anatomic structures and many benign entities have overlapping imaging features with prostate cancer. Although some of these entities require biopsy and histopathologic diagnosis, some have characteristic imaging features that are suggestive of their diagnosis. Knowledge of these pitfalls is important in establishing a correct diagnosis and avoiding unnecessary biopsies, as these entities are encountered routinely in clinical practice...
March 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29418086/molecular-diagnosis-of-skin-infections-using-paraffin-embedded-tissue-review-and-interdisciplinary-consensus
#9
REVIEW
Cord Sunderkötter, Karsten Becker, Heinz Kutzner, Thomas Meyer, Norbert Blödorn-Schlicht, Udo Reischl, Pietro Nenoff, Walter Geißdörfer, Yvonne Gräser, Mathias Herrmann, Joachim Kühn, Christian Bogdan
Nucleic acid amplification techniques (NATs), such as PCR, are highly sensitive and specific methods that have become valuable supplements to culture and serology in the diagnosis of infectious disorders. However, especially when using formalin-fixed and paraffin-embedded tissue, these techniques are associated with both false-negative and false-positive results, a pitfall that is frequently misjudged. Representatives of the German Society of Hygiene and Microbiology (DGHM) and the German Society of Dermatology (DDG) therefore set out to develop a consensus - in the form of a review article - on the appropriate indications for NATs using paraffin-embedded tissue, its contraindications, and the key points to be considered in the pre- and post-analytical phase...
February 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29417370/treatment-of-adult-growth-hormone-deficiency-with-human-recombinant-growth-hormone-an-update-on-current-evidence-and-critical-review-of-advantages-and-pitfalls
#10
REVIEW
Ana M Ramos-Leví, Mónica Marazuela
Adult-onset growth-hormone (GH) deficiency (GHD) is a rare disorder, which most commonly results from pituitary or peripituitary tumors and their treatment, and is characterized by alterations in body composition, carbohydrate and lipid metabolism, bone mineral density, cardiovascular risk profile and quality of life, all of which may contribute to an increased morbidity and mortality. Since recombinant human GH (rhGH) became available in 1985, several studies have provided evidence of its beneficial effects, despite the potential risk of developing adverse effects, and much clinical experience has been accumulated...
February 7, 2018: Endocrine
https://www.readbyqxmd.com/read/29415223/a-maisonneuve-fracture-in-an-active-duty-sailor-a-case-report
#11
Ryan R Richmond, Andrew D Henebry
Maisonneuve fractures are relatively well known in the sports medicine, and orthopedic communities, however, can be commonly missed among primary care providers. The following case outlines an active duty 35-yr-old female patient who presented with acute pain on the left ankle and lower leg after she misjudged a step. The injury is a combination of high fibular and medial malleolar fractures with a disruption of the tibiofibular syndesmosis ligaments. This is a result of extreme external rotation and pronation of a fixed foot...
February 5, 2018: Military Medicine
https://www.readbyqxmd.com/read/29414101/pitfalls-in-mri-of-rectal-cancer-what-radiologists-need-to-know-and-avoid
#12
REVIEW
Sitthipong Srisajjakul, Patcharin Prapaisilp, Sirikan Bangchokdee
Preoperative staging of rectal cancer using magnetic resonance imaging (MRI) has become an important component of clinical management. Although MRI is the modality of choice for rectal cancer diagnosis and staging, there are certain inherent potential pitfalls that radiologists need to recognize in order to avoid imaging misinterpretation, including choice of MRI protocol; choice of MRI technique; potential mimickers of rectal cancer; mucinous rectal tumor; differentiation between extramural tumor invasion and desmoplastic reaction; differentiation between low rectal cancer and anal cancer; problems relating to nodal involvement, peritoneal reflection, and mesorectal fascia invasion; and, challenges associated with restaging, post-treatment changes, and complications...
December 5, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29411300/the-sound-of-air-point-of-care-lung-ultrasound-in-perioperative-medicine
#13
REVIEW
Alberto Goffi, Richelle Kruisselbrink, Giovanni Volpicelli
PURPOSE: Lung ultrasound (LUS) has emerged as an effective and accurate goal-directed diagnostic tool that can be applied in real time for the bedside assessment of patients with respiratory symptoms and signs. Lung ultrasound has definite and easily recognized findings and has been shown to outperform physical examination and chest radiography for the diagnosis and monitoring of many pulmonary and pleural conditions. In this article, we review the principles of LUS image acquisition and interpretation, summarizing key terms and sonographic findings...
February 6, 2018: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/29406333/a-case-report-of-an-adenomatoid-tumor-of-the-uterus-mimicking-an-endometrioid-adenocarcinoma-on-endometrial-curetting-a-diagnostic-pitfall
#14
Paulette Mhawech-Fauceglia, Damanzoopinder Samroa
Adenomatoid tumors (AT) arising in the female genital tract are usually incidental findings occurring most often in the fallopian tube and uterine serosa and rarely in the myometrium. In the myometrium, they appear grossly as deep seated, small, firm, ill circumscribed nodules mimicking leiomyoma. Histologically they show a glandular and invasive pattern making well-differentiated/low-grade endometrioid adenocarcinoma a major differential diagnosis. However, this differential is rarely encountered in practice because myometrial AT is usually seen on the hysterectomy specimen, because of their anatomic position in the deep myometrium, and only rarely in endometrial curettings...
February 5, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29404491/remodeling-the-model-for-end-stage-liver-disease-for-predicting-mortality-risk-in-critically-ill-patients-with-cirrhosis-and-acute-kidney-injury
#15
Xiao-Dong Zhou, Qin-Fen Chen, Dan-Qin Sun, Chen-Fei Zheng, Dong-Jie Liang, Jian Zhou, Song-Jie Wang, Wen-Yue Liu, Sven Van Poucke, Xiao-Dong Wang, Ke-Qing Shi, Wei-Jian Huang, Ming-Hua Zheng
Serum creatinine measurement demonstrates a poor specificity and sensitivity for the early diagnosis of acute kidney injury (AKI) in patients with cirrhosis. The existing model for end-stage liver disease (MELD) score reveals multiple pitfalls in critically ill patients with cirrhosis and acute kidney injury (CAKI). The aim of this study was to re-evaluate the role of creatinine values in the existing MELD score and to develop a novel score for CAKI, named the "acute kidney injury-model for end-stage liver disease score" (AKI-MELD score)...
October 2017: Hepatology communications
https://www.readbyqxmd.com/read/29404465/nonalcoholic-fatty-liver-disease-and-the-ongoing-role-of-liver-biopsy-evaluation
#16
REVIEW
Elizabeth M Brunt
Nonalcoholic fatty liver disease (NAFLD) is one of the most common underlying causes of chronically elevated liver tests and liver disease in adults and children worldwide and may be strongly suspected if not diagnosed by ever evolving and available serologic and imaging-based noninvasive tests. However, the definitive diagnosis of the most progressive form of NAFLD, nonalcoholic steatohepatitis, and the identification of fibrosis stage still require liver biopsy evaluation as noninvasive testing has not replaced some of the specifics or the totality of information obtainable from liver biopsy...
July 2017: Hepatology Communications
https://www.readbyqxmd.com/read/29403542/advances-in-the-diagnosis-immunopathogenesis-and-therapies-of-igm-anti-mag-antibody-mediated-neuropathies
#17
REVIEW
Marinos C Dalakas
Polyneuropathy with immunoglobulin M (IgM) monoclonal gammopathy is the most common paraproteinemic neuropathy, comprising a clinicopathologically and immunologically distinct entity. The clinical spectrum spans from distal paresthesias and mild gait imbalance to more severe sensory ataxia, with falls and a varying degree of distal sensorimotor deficits. In approximately 75% of patients, the monoclonal IgM immunoreacts with myelin-associated glycoprotein (MAG) and sulfoglucuronyl glycosphingolipid (SGPG), or other peripheral nerve glycolipids that serve as antigens...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29403174/papillary-pattern-in-acinic-cell-carcinoma-of-parotid-gland-a-potential-diagnostic-pitfall-on-fnac
#18
Anju Bansal, Manveen Kaur, Varsha Dalal, Fouzia Siraj
Fine needle aspiration cytology (FNAC) is often the first investigation in the work up of salivary gland lesions. However, its diagnostic accuracy is limited by the high rates of false positives and false negatives. Usually, acinic cell carcinoma is prone to be underdiagnosed because of the cytological similarity of the tumor cells to normal acinar cells, however rarely, a predominant papillary architecture on cytology may cause confusion with adenocarcinomas. We present a case of a 45-year-old male with a painful swelling of the right parotid region...
January 2018: Journal of Cytology
https://www.readbyqxmd.com/read/29399982/warthins-tumor-cyto-histological-spectrum-with-emphasis-on-diagnostic-difficulties
#19
Neelam Sood, Parismrita Borah
Warthins tumour is characterized by the presence of epithelial proliferation in a lymphoid stroma. It has been categorized as Sieferts types: 1-4, depending on the proportions of the 2 components. Although FNA is fairly accurate in establishing the diagnosis, the cytologic diagnosis of this tumor has potential sources of error. This retrospective study was conducted in the Department of Pathology and Lab Medicine, of a tertiary care hospital. Cytology and surgical pathology records of past 15 years were screened...
February 5, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29398968/usefulness-of-splenic-scintigraphy-in-differentiating-splenosis-and-malignancy-on-gallium-68-1-4-7-10-tetraazacyclododecane-1-4-7-10-tetraacetic-acid-nai3-octreotide
#20
Stijn Van Hecke, Tim Van Den Wyngaert, Bart Op De Beeck, Sigrid Stroobants
Somatostatin receptor (SSTR) imaging with gallium 68 (Ga-68) 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid (DOTA)-peptide positron emission tomography/computed tomography (PET/CT) has been introduced in clinical routine for the diagnosis and staging of neuroendocrine tumors (NETs) with high SSTR expression. Although it has high sensitivity for NETs, there are some known diagnostic pitfalls one should be aware of. We present a case of suspected NET where Ga-68 DOTA-NaI3-octreotide (NOC) PET/CT showed several abdominal lesions with high SSTR expression suggesting malignancy...
January 2018: World Journal of Nuclear Medicine
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