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Challenging diagnoses

Aqiba Bokhari, Patricia G Tiscornia-Wasserman
Renal cell carcinoma metastases to pancreas, thyroid, and contralateral adrenal gland are decidedly uncommon. Clear cell renal cell carcinoma (CCRCC) is the most frequent subtype. Cytology diagnosis may be challenging. A 74-year-old male with remote history of vocal cord malignancy and hypertension presented with abdominal pain. Computed tomography (CT) revealed 8.4 cm left renal mass highly suspicious for renal cell carcinoma, a 1.8 cm mass within vessels near left adrenal and a 2.5 cm mass in pancreatic tail...
October 22, 2016: Diagnostic Cytopathology
Yuanxin Liang, Tao Zuo
Diagnosis of cystic papillary thyroid carcinoma (PTC) lymph node metastasis at head neck region can be a challenge in the absence of known PTC history. The congenital cystic lesions of head neck, especially thyroglossal duct cyst (TGDC) and branchial cleft cyst (BCC), are major differential diagnoses in this clinicopathological scenario. The location of cyst and morphology of lining epithelium are critical clues for reaching correct diagnosis. However it is not uncommon that the flattened bland epithelial lining can be seen in both cystic metastases and congenital cystic lesions...
October 21, 2016: Head and Neck Pathology
Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
F Spear
Some of the most challenging patients to produce a pleasing smile for are those who present with inadequate tooth display (either due to tooth position, the patient has normal size teeth, but they aren't exposed adequately to fill out the smile) or due to tooth size (the teeth are small, often due to tooth wear). The key to understanding how to manage these patients is to learn to understand the possible aetiologies that could produce the condition, and learn how to diagnose which aetiologies exist for your patient...
October 21, 2016: British Dental Journal
Viboon Boonsarngsuk, Siriwan Saengsri, Pitak Santanirand
BACKGROUND: Intrathoracic tuberculous (TB) lymphadenitis is a diagnostic challenge to the clinician. Although endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) can obtain a sample from the affected lymph node, the diagnosis of TB lymphadenitis by cytopathology remains inaccurate. OBJECTIVE: To evaluate the efficacy of EBUS-TBNA rinse fluid TB polymerase chain reaction (PCR) assay for the diagnosis of intrathoracic TB lymphadenitis. METHODS: A retrospective study was conducted on 102 patients who underwent EBUS-TBNA for diagnostic evaluation of intrathoracic lymphadenopathy...
October 21, 2016: Infectious Diseases
Falco Hietbrink, Lonneke G Bode, Louis Riddez, Luke P H Leenen, Marijke R van Dijk
BACKGROUND: Necrotizing fasciitis is an uncommon, rapidly progressive and potential lethal condition. Over the last decade time to surgery decreased and outcome improved, most likely due to increased awareness and more timely referral. Early recognition is key to improve mortality and morbidity. However, early referral frequently makes it a challenge to recognize this heterogeneous disease in its initial stages. Signs and symptoms might be misleading or absent, while the most prominent skin marks might be in discrepancy with the position of the fascial necrosis...
2016: World Journal of Emergency Surgery: WJES
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Carolin A Boecking, Eleanor A Drey, Jennifer L Kerns, Walter E Finkbeiner
CONTEXT: -Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. OBJECTIVES: -To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses...
October 20, 2016: Archives of Pathology & Laboratory Medicine
Wenjun Zhang, Junfang Chen, Xiao Hong Pan, Jiafeng Zhang, Zhihong Guo, Yan Luo, Jiezhe Yang, Yan Xia, Lin He, Yun Xu, Ke Xu, Xiaobei Ding
OBJECTIVE: To investigate the HIV-1 molecular epidemiology among young people (18 to 25 years old) in Hangzhou. METHODS: Plasma samples from 262 newly diagnosed HIV-1 infected patients were collected between 2009 and 2013 from Hangzhou of Zhejiang province. HIV-1 nucleotide sequences of pol gene regions were amplified using a nested PCR method and sequenced. Phylogenetic and recombination analyses were used to determine the HIV-1 genotypes. RESULTS: Based on all sequences generated, the subtype/circulating recombinant forms (CRF) distribution was as follows: CRF01_AE (68...
October 20, 2016: AIDS Research and Human Retroviruses
Melissa Francisco, Tracy Johansson, Salahuddin Kazi
The Rheumatology Informatics System for Effectiveness (RISE) Registry was developed by the American College of Rheumatology (ACR) to serve US rheumatologists for the significant challenges of a rapidly changing healthcare environment. More than 400 rheumatologists have sent data from more than 3 million encounters of more than 650,000 patients as of August 11, 2016, through their electronic medical records (EMRs), with no additional work or interference with workflow on the part of the rheumatologists. RISE includes patients with all diagnoses seen by participating rheumatologists, at no cost to the rheumatologist...
September 2016: Clinical and Experimental Rheumatology
Nora K Horick, Adoma Manful, Jan Lowery, Susan Domchek, Patricia Moorman, Constance Griffin, Kala Visvanathan, Claudine Isaacs, Anita Y Kinney, Dianne M Finkelstein
PURPOSE: Registries provide a unique tool for tracking quality of life in rare cancer survivors, whose survivorship experience is less known than for common cancers. This paper reports on these outcomes in 321 patients enrolled in the Rare Cancer Genetics Registry diagnosed with rare gastrointestinal, genitourinary, gynecologic, sarcoma, head/neck, or hematologic cancers. METHODS: Four outcomes were assessed, reflecting registrants' self-reported physical and mental health, psychological distress, and loneliness...
October 19, 2016: Journal of Cancer Survivorship: Research and Practice
Jyh-Ming Jimmy Juang, Minoru Horie
In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for sudden cardiac death, characterized by a right bundle-branch block with ST segment elevation in the leads V1 and V2. This syndrome is highly associated with sudden cardiac death, especially in young males. BrS is currently diagnosed in patients with ST-segment elevation showing type 1 morphology ≥ 2 mm in ≥1 leads among the right precordial leads V1 or V2 positioned in the 2nd, 3rd, or 4th intercostal space, and occurring either spontaneously or after a provocative drug test by the intravenous administration of Class I antiarrhythmic drugs...
October 2016: Journal of Arrhythmia
Rachel Scalzo, Tonya N Davis
Providing noncontingent access to a stimulus until an individual displays behavioral indicators of satiation has been used to determine when an abolishing operation is in effect, but there has been variation in its application in the literature. Four males diagnosed with autism spectrum disorder with tangibly maintained challenging behavior participated in this study. Individualized behavioral indicators were identified and verified to determine when each participant was finished playing with his/her preferred item...
October 18, 2016: Behavior Modification
Alicia Iglesias-Deus, Alejandro Pérez-Muñuzuri, Adela Urisarri, Adolfo Bautista-Casasnovas, Maria-Luz Couce
BACKGROUND: Umbilical cord hemangioma is very rare and may not be detected prenatally. However, it should be considered in differential diagnosis with other umbilical masses because it can cause significant morbidity. METHODS: We report the case of a newborn referred with suspected omphalitis and umbilical hernia. RESULTS: Physical examination showed an irreducible umbilical tumor, the size of olive, with dubious secretion. The initial suspected diagnosis was urachal or omphalomesenteric duct remnants...
October 2016: Medicine (Baltimore)
Cheng-I Yang, Min-Yun Hsieh, Li-Hung Lee, Shu-Ling Chen
Adult clients with schizophrenia are primarily cared for by their ageing parents. When the parents become ill or die, siblings are considered to be responsible for taking over the caregiving role. However, little is known about caregiving for a sibling with schizophrenia, and no studies have explored this phenomenon in an Asian context. The aim of the present descriptive, qualitative study was to understand the experiences of being the primary caregiver of a sibling with schizophrenia. Data were collected from 10 siblings of currently-hospitalized patients diagnosed with schizophrenia using semistructured, in-depth interviews...
October 19, 2016: International Journal of Mental Health Nursing
J Quiralte-Castillo, M Del Robledo Ávila-Castellano, S Cimbollek, P Benaixa, S Leguisamo, K Baynova, M Labella, J Quiralte
BACKGROUND: Safer and less time consuming alternatives to single-blind placebo-controlled oral challenge (SBPCOC) in order to diagnose aspirin-exacerbated respiratory disease (AERD) have been searched for. Nasal challenges with different non-steroidal anti-inflammatory drugs and assessment methods have been developed. OBJECTIVE: Our objective was to evaluate the utility and safety of nasal ketorolac challenge (NKC) using an acoustic rhinomether in patients with suspected AERD Methods: Thirty-six patients with suspected AERD were included in the study...
October 19, 2016: Journal of Investigational Allergology & Clinical Immunology
B S Holst
During the last decade, analysis of anti-Müllerian hormone (AMH), highly conserved between mammalian species, has contributed to new information in reproductive endocrinology, due to clinically available diagnostic assays. AMH is produced solely in the gonads, in the Sertoli cells of testes and granulosa cells of the ovary, and thus offers possibilities to diagnose physiologic and pathologic conditions involving these organs. This article reviews indications for AMH analysis in cats and dogs, including diagnosing the presence of gonads, and granulosa or Sertoli cell tumours...
October 18, 2016: Reproduction in Domestic Animals, Zuchthygiene
Olivier Borens, Pablo S Corona, Lars Frommelt, Stergios Lazarinis, Michael Richard Reed, Carlo Luca Romano
Total Joint Arthroplasty (TJA) continues to gain acceptance as the standard of care for the treatment of severe degenerative joint disease, and is considered one of the most successful surgical interventions in the history of medicine. A devastating complication after TJA is infection. Periprosthetic joint infection (PJI), represents one of the major causes of failure and remains a significant challenge facing orthopaedics today. PJI usually requires additional surgery including revision of the implants, fusion or amputations causing tremendous patient suffering but also a heavy health economics burden...
October 19, 2016: Advances in Experimental Medicine and Biology
João Lobo, Bianca Machado, Renata Vieira, Carla Bartosch
An accurate diagnosis of metastases to the ovary is essential for adequate patient management. The aim of this retrospective study was to characterize clinicopathological features of metastatic malignancies that presented as an ovarian mass and compare them with their corresponding primary tumors. We reviewed clinical files and histological material of 120 patients with metastases to the ovary, diagnosed in our center between 2000 and 2014. Metastases were diagnosed before (18 %), synchronously (33 %), or after (49 %) the primary tumor was identified; 25 % were single, 40 % were unilateral; 47 % were ≥13 cm...
October 18, 2016: Virchows Archiv: An International Journal of Pathology
Betine Pinto Moehlecke Iser, Álvaro Vigo, Bruce Bartholow Duncan, Maria Inês Schmidt
BACKGROUND: Diabetes is increasing globally, particularly in low and middle income countries, posing a great challenge to health systems. Brazil is currently ranked 4th in the world in terms of the absolute number of persons with diabetes. Our aim was to analyze the trend in self-reported diabetes prevalence between 2006 and 2014 in Brazilian adults. METHODS: We used data from the national telephone survey-VIGITEL. Over 40,000 individuals from probabilistic sample of subjects ≥18 years old residing in 26 state capitals and the Federal District were interviewed per year in each location...
2016: Diabetology & Metabolic Syndrome
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