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https://www.readbyqxmd.com/read/28433990/two-dimensional-ultrasound-evaluation-of-the-fetal-cerebral-aqueduct-improving-the-antenatal-diagnosis-and-counseling-of-aqueductal-stenosis
#1
Fernando Viñals, Pilar Ruiz, Gabriel Quiroz, Francisco A Guerra, Flavia Correa, Daniel Martínez, Bienvenido Puerto
OBJECTIVE: To describe a technique for the visualization and measurement of cerebral aqueduct diameter through a 2D sagittal median plane, and to report its aspect and measurement in fetuses with aqueductal stenosis (AS). METHODS: This was a cross-sectional study of 207 morphologically normal fetuses in low-risk pregnancies between 20 and 36 weeks of gestation. The cerebral aqueduct was visualized transvaginally in a midsagittal plane, and measurements of its greatest diameter (ampulla) were taken independently by an expert and a nonexpert sonographer...
April 22, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28433983/pulmonary-metastasis-from-renal-epithelioid-angiomyolipoma-in-the-setting-of-breast-cancer
#2
Eoin MacCraith, Aoife McCarthy, Niall Swan, David Quinlan
A 68-year-old woman presented with visible haematuria. Ultrasonography and triphasic CT revealed a 2.6 cm mass in the lower pole of the left kidney. A biopsy suggested low-grade renal cell carcinoma. Radical nephrectomy was performed and revealed an epithelioid angiomyolipoma. At year 3, the patient developed ductal carcinoma of the right breast and underwent a wide local excision and sentinel lymph node biopsy followed by chemotherapy and radiotherapy. 4 months later, she was noted to have a 1.6 cm nodule in the middle lobe of her right lung...
April 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28433858/reduced-graphene-oxide-chitosan-aptamer-interface-as-new-platform-for-ultrasensitive-detection-of-human-epidermal-growth-factor-receptor-2
#3
Arezoo Tabasi, Abdollah Noorbakhsh, Ensiyeh Sharifi
The present work describes an ultrasensitive electrochemical aptamer-based assay for detection of human epidermal growth factor receptor 2 protein (HER2) cancer biomarker as a model analyte. Results show that the reduced graphene oxide-chitosan (rGO-Chit) film as a suitable electrode material possesses great favorable properties including high homogeneity, good stability, large surface area and high fraction of amine groups as aptamer binding sites. Various steps of aptasensor fabrication were characterized using microscopic, energy-dispersive X-ray spectroscopy (EDAX), Fourier transform infrared (FTIR) spectroscopy and electrochemical techniques...
April 18, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28433622/diminished-capacity-of-opsonization-and-immune-complex-solubilization-and-detection-of-anti-c1q-antibodies-in-sera-from-patients-with-hereditary-angioedema
#4
Daisuke Honda, Isao Ohsawa, Nobuyuki Sato, Hiroyuki Inoshita, Satoshi Mano, Yasuhiko Tomino, Yusuke Suzuki
BACKGROUND: Hereditary angioedema (HAE) is an autosomal dominant disease caused by deficiency of C1 esterase inhibitor. Symptoms of HAE include edema, which can potentially cause suffocation. Some patients with HAE exhibit immunological abnormalities, which could prevent an accurate diagnosis. Low levels of complement components are characteristic of HAE and in other settings are thought to reduce elimination of apoptotic cells and immune complex (IC). Thus, we aimed to experimentally clarify the mechanism of immunological abnormalities using sera from HAE patients...
April 19, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28433441/role-of-contrast-enhanced-ultrasound-in-diagnosis-of-thyroid-nodules-in-acoustic-radiation-force-impulse-gray-zone
#5
Jia Zhan, Xue-Hong Diao, Lin Chen, Jia-Mei Jin, Yue Chen
The aim of this study was to evaluate the clinical value of contrast-enhanced ultrasound (CEUS) in the diagnosis of thyroid nodules in the acoustic radiation force impulse (ARFI) "gray zone" (the shear wave velocity is in the range 2.5-3 m/s). ARFI was performed before thyroidectomy in 70 patients with 200 thyroid nodules, and then CEUS was performed in 40 thyroid nodules in the "gray zone." The accuracy of ARFI for the 200 thyroid nodules was 82% (164/200). The accuracy of ARFI for the 40 "gray zone" thyroid nodules was 70% (28/40), whereas the accuracy of CEUS for the "gray zone" thyroid nodules was 90% (36/40)...
April 19, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28433375/mosaicism-between-trophectoderm-and-inner-cell-mass
#6
REVIEW
Antonio Capalbo, Laura Rienzi
Defining the actual incidence and prevalence of mosaicism in human blastocysts still remains a difficult task. The small amount of evidence generated by animal and human studies does not support the existence of mechanisms involved in developmental arrest, clonal depletion, or aneuploidy rescue for abnormal cells in euploid/aneuploid embryos during preimplantation development. However, studies in humans are mainly descriptive and lack functional evidence. Understanding the biological mechanisms that beset preimplantation differentiation holds the potential to reveal the role of aneuploidies and gene dosage imbalances in cell fate decision, providing important clues on the origin and evolution of embryonic mosaicism...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#7
Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433098/wilson-disease-in-children
#8
Eve A Roberts, Piotr Socha
Wilson disease (WD) is an inherited disorder mainly of hepatocellular copper disposition, due to dysfunction of the Wilson ATPase, a P1B-ATPase encoded by the gene ATP7B. In children, as in older age brackets, clinical disease is highly diverse. Although hepatic disease is the common presentation in children/adolescents, neurologic, psychiatric, and hematologic clinical presentations do occur. Very young children may have clinically evident liver disease due to WD. Early diagnosis, preferably when the child/adolescent is asymptomatic, is most likely to result in near-normal longevity with generally good health so long as the patient tolerates effective medication, is adherent to the lifelong treatment regimen, and has consistent access to the medication...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432894/the-structure-correlates-and-treatment-related-changes-of-mindfulness-facets-across-the-anxiety-disorders-and-obsessive-compulsive-disorder
#9
Lance L Hawley, Jenny Rogojanski, Valerie Vorstenbosch, Lena C Quilty, Judith M Laposa, Neil A Rector
Research with non-clinical and clinical samples has examined how mindfulness concepts relate to psychological symptom presentations. However, there is less clarity when examining treatment-seeking patients who experience DSM-diagnosed anxiety and obsessional disorders - both cross-sectionally, and following empirically-supported treatments. The Five Facet Mindfulness Questionnaire (FFMQ; Baer, Smith, Hopkins, Krietemeyer, & Toney, 2006) conceptualizes mindfulness as consisting of five facets: Observing, Describing, Acting with Awareness, Nonreactivity, and Nonjudging...
March 14, 2017: Journal of Anxiety Disorders
https://www.readbyqxmd.com/read/28432822/focal-liver-lesions-segmentation-and-classification-in-nonenhanced-t2-weighted-mri
#10
Ilias Gatos, Stavros Tsantis, Maria Karamesini, Stavros Spiliopoulos, Dimitris Karnabatidis, John D Hazle, George C Kagadis
PURPOSE: To automatically segment and classify focal liver lesions (FLLs) on nonenhanced T2-weighted magnetic resonance imaging (MRI) scans using a computer-aided diagnosis (CAD) algorithm. METHODS: 71 FLLs (30 benign lesions, 19 hepatocellular carcinomas, and 22 metastases) on T2-weighted MRI scans were delineated by the proposed CAD scheme. The FLL segmentation procedure involved wavelet multiscale analysis to extract accurate edge information and mean intensity values for consecutive edges computed using horizontal and vertical analysis that were fed into the subsequent fuzzy C-means algorithm for final FLL border extraction...
April 22, 2017: Medical Physics
https://www.readbyqxmd.com/read/28432678/anal-metastasis-of-rectal-cancer-adenocarcinoma-of-squamous-cells-a-case-report-and-literature-review
#11
Shun Sasaki, Masahiko Sugiyama, Yu Nakaji, Ryota Nakanishi, Yuichiro Nakashima, Hiroshi Saeki, Eiji Oki, Yoshinao Oda, Yoshihiko Maehara
Anal metastasis of colorectal cancer is very rare and is usually associated with a history of anal disease, including anal fistula, fissure, hemorrhoidectomy, and anastomotic injury. We report a case of rectal cancer with a synchronous anal metastasis consisting of adenocarcinoma of squamous cells without a history of anal disease. A 60-year-old woman had a chief complaint of melena. She had a 1.5-cm anal tumor on the perianal skin, and a Bollman type 2 rectal tumor on the Ra portion was found on colonoscopy...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28432512/squamous-cell-carcinoma-of-the-breast-in-the-united-states-incidence-demographics-tumor-characteristics-and-survival
#12
Siddhartha Yadav, Dhiraj Yadav, Dana Zakalik
PURPOSE: Squamous cell carcinoma of breast accounts for less than 0.1% of all breast cancers. The purpose of this study is to describe the epidemiology and survival of this rare malignancy. METHODS: Data were extracted from the National Cancer Institute's Surveillance, Epidemiology and End Results Registry to identify women diagnosed with squamous cell carcinoma of breast between 1998 and 2013. SEER*Stat 8.3.1 was used to calculate age-adjusted incidence, age-wise distribution, and annual percentage change in incidence...
April 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28432270/discriminating-between-virilizing-ovary-tumors-and-ovary-hyperthecosis-in-postmenopausal-women-clinical-data-hormonal-profiles-and-image-studies
#13
Viviane Dos Reis Vieira Yance, José Antonio Miguel Marcondes, Michelle Patrocíneo Rocha, Cristiano Roberto Grimaldi Barcellos, Wagner Silva Dantas, Ana Flavia Assis Avila, Ronaldo Hueb Baroni, Filomena Marino Carvalho, Sylvia Asaka Yamashita Hayashida, Berenice Bilharinho Mendonça, Sorahia Domenice
The presence of virilizing signs associated with high serum androgen levels in postmenopausal women is rare. Virilizing ovarian tumors (VOTs) and ovarian stromal hyperthecosis (OH) are the most common etiologies in virilized postmenopausal women. The differential diagnosis between these two conditions is often difficult. OBJECTIVE: To evaluate the contribution of clinical features, hormonal profiles and radiological studies to the differential diagnosis of VOT and OH. DESIGN: A retrospective study...
April 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28432169/primary-malignant-melanoma-of-the-cervix-a-rare-disease
#14
Ivo Julião, Sonia Dias Carvalho, Vanda Patricio, Ana Raimundo
Malignant melanoma (MM) arising primarily in the cervix is exceedingly rare and has a poor prognosis. We report the case of a primary MM of the cervix in a 64-year-old woman with vaginal bleeding. She presented with a cervical amelanotic lesion which on biopsy rendered the diagnosis of MM. The patient was staged as International Federation of Gynecology and Obstetrics IIB and underwent Wertheim-Meigshysterectomy followed by brachytherapy. One year later, she was diagnosed with a large pelvic relapse for which surgery was performed...
April 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28431627/sequential-naion-presenting-as-pseudo-foster-kennedy-syndrome
#15
Anuja Patil, Aastha Takkar, Manoj Goyal, Ramandeep Singh, Vivek Lal
PURPOSE: To review recurrent NAION as a cause for PFK syndrome. METHODS: In an observational study patients presenting with sudden loss of vision were evaluated. We reviewed patients presenting with disc edema on one side and optic atrophy in contralateral eye on fundus examination. Their visual field defects and fundus fluorescein angiography was assessed. RESULTS: Of the 7 patients evaluated 4 (57.1%) were females. Mean age at presentation was 53...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431604/a-reappraisal-of-diagnostic-tests-for-myasthenia-gravis-in-a-large-asian-cohort
#16
Yew Long Lo, Raymond P Najjar, Kelvin Y Teo, Sharon L Tow, Jing Liang Loo, Dan Milea
BACKGROUND: Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of bodily skeletal muscles. Office-based diagnostic tests such as repetitive nerve stimulation (RNS), single fiber electromyography (SFEMG), and the ice test, are used to refine the differential clinical diagnosis of this disease. Evaluating the clinical sensitivity and specificity of these tests, however, may be confounded by lack of a gold standard, non-blinding, incorporation bias, use of non-representative populations and retrospective data...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28431568/a-case-report-of-severe-calciphylaxis-suggested-approach-for-diagnosis-and-treatment
#17
Margret Patecki, Gabriele Lehmann, Jan Hinrich Bräsen, Jessica Schmitz, Anna Bertram, Lars Daniel Berthold, Hermann Haller, Wilfried Gwinner
BACKGROUND: Calciphylaxis is a serious complication in patients with chronic kidney disease associated mineral and bone disorder. It can occur in conditions with low and high bone turnover. So far, there are no definite diagnostic and therapeutic guidelines which may prevent the devastating outcome in many calciphylaxis patients. We report a case which clearly illustrates that knowledge of the underlying bone disorder is essential for a directed treatment. Based on this experience we discuss a systematic diagnostic and therapeutic approach in patients with calciphylaxis...
April 21, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28431412/cutaneous-malignant-melanoma-with-rhabdoid-morphology-and-smooth-muscle-differentiation-a-challenging-histopathologic-diagnosis
#18
Lucía Prieto-Torres, Victoria Alegría-Landa, Concepción Llanos, Alicia Córdoba, Heinz Kutzner, Luis Requena
Divergent differentiation or metaplastic change is a rare feature exhibited occasionally in malignant melanoma (MM), which is characterized by the development of morphologically, immunochemically, and/or ultrastructurally nonmelanocytic cells within the tumor. Smooth muscle differentiation in MM is an exceedingly rare phenomenon reported only in a few cases in the literature. We report the case of a 69-year-old woman who presented with a pure dermal amelanotic MM with smooth muscle cell differentiation and an area of rhabdoid morphology, which made the accurate histopathologic diagnostic of MM challenging...
May 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28431055/electrocardiographic-differentiation-of-idiopathic-right-ventricular-outflow-tract-ectopy-from-early-arrhythmogenic-right-ventricular-cardiomyopathy
#19
Jan Novak, Alessandro Zorzi, Silvia Castelletti, Antonis Pantasis, Ilaria Rigato, Domenico Corrado, William Mckenna, Pier D Lambiase
Aims: The differentiation between idiopathic right ventricular outflow tract (RVOT) arrhythmias and early arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging. We aimed to assess whether QRS morphological features and coupling interval of ventricular ectopic beats (VEBs) can improve differentiation between the two conditions. Methods and Results: Twenty desmosomal-gene mutation carriers (13 females, mean age 43 years) with no or mild ARVC phenotypic expression and 33 age- and sex-matched subjects with idiopathic RVOT arrhythmias were studied...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430741/utility-of-8%C3%A2-h-and-time-decay-corrected-acquisition-scintigraphy-with-in-vitro-labeled-white-blood-cells-for-the-diagnosis-of-osteoarticular-infection
#20
Edel Noriega Álvarez, Guillermo A Martínez Pimienta, Ana M Benítez Segura, María T Bajén Lázaro, Alba Rodrígez-Gasén, Julio Rodríguez-Rubio Corona, Jaime Mora Salvadó
INTRODUCTION: Except in the spine, labeled white-blood cell scintigraphy (WBCS) with image acquisition up to 24 h is the nuclear medicine test of choice for diagnosing osteoarticular infection. However, distinguishing between inflammation and infection is a challenge. OBJECTIVES: The first aim of this study was to verify earlier research studies that used 4 and 24 h time decay-corrected acquisition (TDCA) to differentiate infection from inflammation. The second aim was to analyze whether 8 h acquisition (1-day protocol) yielded similar results as 20-24 h acquisition...
April 20, 2017: Nuclear Medicine Communications
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