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https://www.readbyqxmd.com/read/28545192/atypical-teratoid-rhabdoid-tumor-of-brain-a-clinicopathologic-study-of-eleven-patients-and-review-of-literature
#1
Nasir Ud Din, Abrar Barakzai, Aisha Memon, Sheema Hasan, Zubair Ahmad
Background: Atypical teratoid/ rhabdoid tumor (AT/RT) is a rare aggressive embryonal central nervous system (CNS) tumor of infancy and early childhood. Majority of the cases arise in the posterior fossa, and remaining in the cerebrum. Aims: To analyze the clinicopathologic features of AT/RT on a cohort of cases. Materials and methods: All reported cases of AT/RT at the Department of Pathology and Laboratory Medicine, Aga Khan University Hospital (AKUH) from 2007 to 2016 were reviewed for clinical and pathological features...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28545165/highly-recurrent-h3f3a-mutations-with-additional-epigenetic-regulator-alterations-in-giant-cell-tumor-of-bone
#2
Koichi Ogura, Fumie Hosoda, Hiromi Nakamura, Natsuko Hama, Yasushi Totoki, Akihiko Yoshida, Shoko Ohashi, Hirofumi Rokutan, Erina Takai, Shinichi Yachida, Akira Kawai, Sakae Tanaka, Tatsuhiro Shibata
Recurrent H3F3A and IDH2 mutations have been reported in giant cell tumor of bone (GCTB). However, the reported incidences have varied, and other molecular genetic alterations have not been identified due to the small number of cases analyzed with comprehensive methods. Moreover, the relative sensitivities of Sanger sequencing and next-generation sequencing (NGS) for the detection of H3F3A mutations in DNA extracted from archival formalin-fixed paraffin-embedded (FFPE) for clinical diagnosis have not been assessed...
May 25, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28544819/dual-malignancy-in-a-thyroid-papillary-thyroid-carcinoma-and-small-lymphocytic-lymphoma-a-report-of-a-case-with-a-cyto-histologic-correlation
#3
Omar I Ahmed, Ziyan T Salih
Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. Simultaneous involvement of the thyroid gland by multiple malignancies, is a rare occurrence. Similarly, primary thyroid lymphomas are also rare. We are reporting a rare case of a dual thyroid malignancy; PTC with secondary thyroid involvement by chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), diagnosed on cytology and confirmed with flow cytometry, histology and immunohistochemistry. Imaging showed two hypermetabolic nodules, one in left parotid gland, and the other in the thyroid isthmus...
May 22, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28544612/ecology-adaptation-and-function-of-methane-sulfidic-spring-water-biofilm-microorganisms-including-a-strain-of-anaerobic-fungus-mucor-hiemalis
#4
Enamul Hoque, Johannes Fritscher
Ecological aspects, adaptation, and some functions of a special biofilm and its unique key anaerobic fungus Mucor hiemalis strain EH11 isolated from a pristine spring (Künzing, Bavaria, Germany) are described. The spring's pure nature is characterized by, for example, bubbling methane, marine-salinity, mild hydrothermal (~19.1°C), sulfidic, and reductive-anoxic (Eh : -241 to -253 mV, O2 : ≤ 0.1 mg/L) conditions. It is geoecologically located at the border zone between Bavarian Forest (crystalline rocky mountains) and the moor-like Danube River valley, where geological displacements bring the spring's water from the deeper layers of former marine sources up to the surface...
May 24, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28544576/atypical-adenoma-of-the-thyroid-diagnosed-as-anaplastic-cancer-by-cytopathology
#5
Hiromitsu Hatakeyama, Kimiko Hoshino, Kenji Mizoguchi, Takayoshi Suzuki, Kanako C Hatanaka, Yukie Yamaya, Satoshi Kano, Takatsugu Mizumachi, Akihiro Homma
Atypical adenoma of the thyroid is a rare form of tumor, and its accurate diagnosis prior to surgical resection is difficult as the histological and pathological morphologies are very similar to those of anaplastic thyroid carcinoma (ATC), and its anaplastic transformation remains to be elucidated. We reported a case of a 75-year-old female with a thyroid isthmus nodule diagnosed repeatedly by FNAC as anaplastic carcinoma. Both the first and second FNAC specimen slides showed a large number of scattered or aggregated atypical cells consisting of large, pleomorphic nuclei with irregular membranes, chromatin clumps and prominent nucleoli...
May 22, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#6
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544433/gynecological-challenges-in-the-diagnosis-and-care-of-patients-with-dsd-the-role-of-the-obstetrician-gynecologist-in-the-multidisciplinary-approach-to-the-patient
#7
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sex development (DSD) are identified when there is atypical chromosomal, gonadal, or anatomic sex. Given the complexity of DSD conditions, the consensus guidelines recommend that affected individuals be evaluated and cared for by teams with expertise in DSD conditions. Obstetrician gynecologists are experts in genital and reproductive anatomy, hormonal function, fertility, sexuality, and obstetrics, allowing them to provide a unique and essential function within the DSD team. Furthermore, obstetrician gynecologists with expertise in Pediatric and Adolescent Gynecology may follow individuals from birth into adulthood and provide reproductive health care for all ages, allowing these patients to "grow up" with them...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28544229/clinical-heterogeneity-of-type-1-diabetes-t1d-found-in-asia
#8
REVIEW
Yongsoo Park, Kupper A Wintergerst, Zhiguang Zhou
Diabetes mellitus among young patients in Asia is caused by a complex set of factors. Although T1D remains the most common form of diabetes in children, the recent unabated increase in obesity has resulted in the emergence of T2D as a new type of diabetes at adolescent and young adult age. In addition to the typical autoimmune type 1 diabetes (T1aD) and type 2 diabetes (T2D) patients, there is a variable incidence of cases of non-autoimmune types of T1D associated with insulin deficiency (T1bD). Additional forms have been described, including fulminant T1D (FT1D)...
May 19, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#9
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28544044/carcinoma-ex-basal-cell-adenoma-of-the-parotid-gland-a-report-of-an-extremely-rare-case
#10
Kimihide Kusafuka, Takuya Kawasaki, Takashi Nakajima, Takashi Sugino
Malignant non-basaloid tumors that arise from basal cell adenoma (BCA) are extremely rare. The patient was a 72-year-old Japanese male, who had noticed swelling of the left parotid region 21 years ago. A superficial lobectomy was performed. About 60% of the tumor was made up of cribriform and trabecular tissue composed of basaloid cells, which exhibited mild atypia and nuclear expression of β-catenin. This portion of the tumor was considered to be a BCA. In the other part of the tumor, the proliferation of large eosinophilic atypical cells, most of which formed intraductal structures, was observed...
May 19, 2017: Pathology International
https://www.readbyqxmd.com/read/28543922/molluscum-contagiosum-of-the-gluteal-cleft-observations-and-implications-for-management-in-five-children
#11
Joshua R Bakke, Sarah L Stein
Molluscum contagiosum (MC) is a common, self-limited skin infection caused by a double-stranded DNA virus of the family Poxviridae. Although the morphology of the disease is well described, MC presenting at unusual sites can exhibit atypical morphology, resulting in misdiagnosis. This observational, retrospective case series discusses the novel morphology of MC presenting in the intergluteal cleft of five children seen in the outpatient dermatology clinic of an academic medical center. We present this case series to highlight this novel presentation of MC in children and to emphasize a conservative approach to management given the sensitive location and the self-limited nature of the infection...
May 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28543859/pustular-erythema-multiforme-major-associated-with-atypical-pneumonia
#12
R Wolf, S Ständer, O Well, L Frey, I Klier, S Brunner, M Flaig, A Wollenberg, T Ruzicka
A 52-year-old male patient presented to the hospital with severe difficulties swallowing, sore eyes and an asymptomatic skin rash. The patient was fully oriented, vital signs were normal. Two days before admission to the hospital, the referring physician had suspected an upper respiratory tract infection and had started treatment with oral cefuroxime while also prescribing ibuprofen for sore throat. This article is protected by copyright. All rights reserved.
May 23, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28543841/role-of-fluorescence-in-situ-hybridization-in-diagnosing-cholangiocarcinoma-in-indeterminate-biliary-strictures
#13
Z H Liew, T J Z Loh, T K H Lim, T H Lim, C J L Khor, S J Mesenas, C S C Kong, W C Ong, D M Y Tan
BACKGROUND: Brush cytology, the conventional method to diagnose cholangiocarcinoma, has been plagued by low diagnostic sensitivity and false-negative results. We aim to study the clinical utility of fluorescence in situ hybridization (FISH) in enhancing identification of malignant biliary strictures. METHODS: Brush cytologic specimens collected from endoscopic retrograde cholangiopancreatography (ERCP) for biliary strictures in a tertiary hospital in Singapore from March 2013 to July 2015 were examined by FISH technique using UroVysion probe set in this study...
May 19, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28543606/reflectance-confocal-microscopy-analysis-of-equivocal-melanocytic-lesions-with-severe-regression
#14
M Agozzino, A Ferrari, C Cota, C Franceschini, P Buccini, L Eibenshutz, M Ardigò
BACKGROUND: The differential diagnosis between regressing nevi and melanoma might be challenging; regressing areas can represent a confounding factor for the diagnosis and the histology still remain mandatory to rule out melanoma. Reflectance confocal microscopy may add valuable information by revealing features suggestive of the nature of the melanocytic proliferation. OBJECTIVE: To assess the impact of confocal microscopy in the management of regressive melanocytic lesions...
May 21, 2017: Skin Research and Technology
https://www.readbyqxmd.com/read/28543105/-alk-oncoproteins-in-atypical-inflammatory-myofibroblastic-tumours-novel-rrbp1-alk-fusions-in-epithelioid-inflammatory-myofibroblastic-sarcoma
#15
(no author information available yet)
No abstract text is available yet for this article.
June 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28542627/predictive-features-of-chronic-kidney-disease-in-atypical-haemolytic-uremic-syndrome
#16
Matthieu Jamme, Quentin Raimbourg, Dominique Chauveau, Amélie Seguin, Claire Presne, Pierre Perez, Pierre Gobert, Alain Wynckel, François Provôt, Yahsou Delmas, Christiane Mousson, Aude Servais, Laurence Vrigneaud, Agnès Veyradier, Eric Rondeau, Paul Coppo
Chronic kidney disease (CKD) is a frequent and serious complication of atypical haemolytic uremic syndrome (aHUS). We aimed to develop a simple accurate model to predict the risk of renal dysfunction in aHUS based on clinical and biological features available at hospital admission. Renal function at 1-year follow-up, based on an estimated glomerular filtration rate < 60mL/min/1.73m2 as assessed by the Modification of Diet in Renal Disease equation, was used as an indicator of significant CKD. Prospectively collected data from a cohort of 156 aHUS patients who did not receive eculizumab were used to identify predictors of CKD...
2017: PloS One
https://www.readbyqxmd.com/read/28542171/adults-with-autism-spectrum-conditions-experience-increased-levels-of-anomalous-perception
#17
Elizabeth Milne, Abigail Dickinson, Richard Smith
Autism spectrum condition (ASC) is characterised by differences in social interaction and behavioural inflexibility. In addition to these core symptoms, atypical sensory responses are prevalent in the ASC phenotype. Here we investigated anomalous perception, i.e. hallucinatory and/or out of body experiences in adults with ASC. Thirty participants with an ASC diagnosis and thirty neurotypical controls completed the Cardiff Anomalous Perception Scale (CAPS) and the Social Responsiveness Scale (SRS-2). The CAPS is a 32-item questionnaire that asks participants to indicate whether or not they experience a range of anomalous and out of body experiences, and to rate how intrusive and distressing these experiences are...
2017: PloS One
https://www.readbyqxmd.com/read/28542054/quantitative-neuromuscular-blockade-monitoring-two-pictures-of-unexpected-rocuronium-effect-a-case-report
#18
Paul A Leonard, Michael M Todd
Wide variation in responses to neuromuscular blocking agents is well described but typically underappreciated in clinical practice. We present 2 patients with unexpected responses to rocuronium, despite being otherwise unremarkable. Quantitative neuromuscular monitoring provided clear documentation of the events, providing illustrations of these atypical responses.
May 23, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28541884/an-incomplete-picture-challenges-of-partial-biopsies-in-large-diameter-atypical-melanocytic-lesions
#19
Lauren C Strazzulla, Hong Wu, Marissa Heller, Caroline C Kim
Large diameter atypical pigmented lesions (LDAPL) can be challenging to diagnose accurately using partial biopsies because of pathologic heterogeneity, while at the same time large excisions of these lesions confer significant morbidity to patients. Consequently, clinicians are often challenged by the management of these lesions. In this case, we describe an elderly patient with a history of multiple basal cell carcinomas, prior melanomas, and a family history of melanoma who presented with an irregularly pigmented brown and dark brown patch on his upper back...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28541806/atypical-wound-pathogens
#20
Philip S Barie
BACKGROUND: Atypical wound pathogens may be so described because they are uncommon pathogens of soft tissue among human beings, or because they may be fastidious and difficult to recover/isolate in the laboratory. METHODS: A review of pertinent English-language literature was performed. RESULTS: These wound pathogens are a diverse lot, including aerobic and anaerobic gram-positive and gram-negative bacilli, non-tuberculous mycobacteria, and bacteria that cannot be characterized conventionally because they lack a cell wall (the Mycoplasmataceae)...
May 2017: Surgical Infections
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