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https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#1
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29158999/recurrent-primary-suprahepatic-abscess-due-to-providencia-stuartii-a-rare-phenomenon
#2
Kyawzaw Lin, Aung Naing Lin, Sandar Linn, Madhavi Reddy, Anjali Bakshi
Gram-negative urease-producing bacilli, Providencia stuartii (P. stuartii), is reported in urinary tract infections, gastroenteritis, and bacteremia in humans but they rarely present with a hepatic abscess. We present a rare case of a recurrent suprahepatic cyst due to P. stuartii in a 45-year-old female, intravenous ( IV) heroin abuser with chronic hepatitis B and C. A 45-year-old female with 10 days status post right suprahepatic abscess drainage presented with recurrent, right, upper quadrant abdominal pain for one day...
September 16, 2017: Curēus
https://www.readbyqxmd.com/read/29158931/atypical-distant-metastasis-of-breast-malignant-phyllodes-tumors-a-case-report-and-literature-review
#3
Tiphaine de Foucher, Hélène Roussel, Mikael Hivelin, Léa Rossi, Caroline Cornou, Anne-Sophie Bats, Myriam Deloménie, Fabrice Lécuru, Charlotte Ngô
Malignant phyllodes tumors (MPT) are rare breast neoplasms. Preoperative diagnosis is often challenging due to the unspecific clinical, radiological, and histological characteristics of the tumor. Dissemination pathways are local with chest wall invasion, regional with lymph nodes metastasis, and distant, hematogenous, mostly to the lungs, bones, and brain. Distant metastasis (DM) can be synchronous or appear months to years after the diagnosis and initial management. The current report describes the case of a 57-year-old woman presenting with a giant/neglected MPT of the breast, with no DM at initial staging, treated by radical modified mastectomy...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29146096/ten-year-review-of-isolated-spontaneous-mesenteric-arterial-dissections
#4
Courtney E Morgan, Neel A Mansukhani, Mark K Eskandari, Heron E Rodriguez
OBJECTIVE: Isolated spontaneous dissection of the superior mesenteric artery (SMA) and celiac artery (CA) remains a rare condition; however, it has been increasingly noted incidentally on diagnostic imaging. The purpose of this study was to examine the natural history and outcomes of patients presenting with isolated spontaneous mesenteric artery dissection (SMAD). We hypothesized that most SMADs can be treated nonoperatively. METHODS: This was a single-center retrospective review of patients presenting with the diagnosis of SMAD between 2006 and 2016...
November 13, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29145332/primary-malignant-melanoma-of-the-lung-a-case-report-and-literature-review
#5
Juan Peng, Fengfeng Han, Tianyun Yang, Jinyuan Sun, Wenbin Guan, Xuejun Guo
RATIONALE: Primary malignant melanoma of the lung (PMML) is an extremely rare neoplasm with a dismal prognosis. The diagnosis of PMML is very difficult and is based on several clinical, radiological, and histopathological criteria. PATIENT CONCERNS: A 61-year-old women was admitted with a 2-month history of a productive cough and chest pain provoked by breathing and coughing. Computed tomography (CT) scans of the chest showed a large, solid tumor in the right middle lobe of the lung...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143222/quantitative-analysis-of-the-level-of-readability-of-online-emergency-radiology-based-patient-education-resources
#6
David R Hansberry, Michael D'Angelo, Michael D White, Arpan V Prabhu, Mougnyan Cox, Nitin Agarwal, Sandeep Deshmukh
PURPOSE: The vast amount of information found on the internet, combined with its accessibility, makes it a widely utilized resource for Americans to find information pertaining to medical information. The field of radiology is no exception. In this paper, we assess the readability level of websites pertaining specifically to emergency radiology. METHODS: Using Google, 23 terms were searched, and the top 10 results were recorded. Each link was evaluated for its readability level using a set of ten reputable readability scales...
November 15, 2017: Emergency Radiology
https://www.readbyqxmd.com/read/29142582/pseudoaneurysm-of-left-proximal-common-carotid-artery-following-penetrating-trauma
#7
Rehana Shaikh, Saba Sohail, Parvez Ahmed Shaikh, Qamar-Un-Nisa Nisa
A 33-year male with history of penetrating trauma to left upper chest in 2006, presented through Medical unit to Radiology Department with complain of hemoptysis. Chest X-ray showed a soft tissue lesion in left upper lobe with a linear metallic foreign body. Contrast enhanced CT scan of chest and later CTA was performed which showed a saccular aneurysm arising from mediastinal part of left common aortic artery surrounded by thrombosis with a cylindrical linear metallic foreign body. He was planned for endovascular repair with stenting which he could not afford due to financial constraints...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142570/assessment-of-work-related-asthma-cases-our-three-year-experience
#8
Ayse Coskun Beyan, Nur Safak Alici, Arif Cimrin
Objective: Work-related asthma (WRA) is one of the most common occupational diseases. In this study, we aimed to review diagnosing procedures and the characteristics of patients who were diagnosed with WRA. Methods: Between November 2013 and June 2016; 214 patients were referred to our clinic with WRA suspicion by an occupational health specialist, personal visit, chest disease specialists [61 (28%), 51 (23%), and 102 (47%) respectively]. Occupational history, functional and radiological assessment, skin prick test, PEF monitoring were done...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29140934/response-of-symptomatic-persistent-chronic-disseminated-candidiasis-to-corticosteroid-therapy-in-immunosuppressed-pediatric-patients-case-study-and-review-of-the-literature
#9
Vered Shkalim-Zemer, Itzhak Levi, Salvador Fischer, Hannah Tamary, Joanne Yakobovich, Gali Avrahami, Gil Gilad, Sara Elitzur, Isaac Yaniv, Ronit Elhasid, Michal Manistersky, Itamar Shalit
BACKGROUND: Chronic disseminated candidiasis (CDC) is a severe invasive fungal infection principally observed during neutrophil recovery in patients with acute leukemia treated with intensive chemotherapy. Its pathophysiology remains unclear. We describe the management of six children with symptomatic CDC who did not respond to antifungal therapy. METHODS: The databases of the hematology-oncology departments of two tertiary pediatric medical centers were searched for all patients diagnosed with CDC from 2003 to 2015 who responded to corticosteroids after failing antifungal therapy...
November 14, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29140122/lymphangioleiomyomatosis-diagnosis-and-management-high-resolution-chest-computed-tomography-transbronchial-lung-biopsy-and-pleural-disease-management-an-official-american-thoracic-society-japanese-respiratory-society-clinical-practice-guideline
#10
Nishant Gupta, Geraldine A Finlay, Robert M Kotloff, Charlie Strange, Kevin C Wilson, Lisa R Young, Angelo M Taveira-DaSilva, Simon R Johnson, Vincent Cottin, Steven A Sahn, Jay H Ryu, Kuniaki Seyama, Yoshikazu Inoue, Gregory P Downey, MeiLan K Han, Thomas V Colby, Kathryn A Wikenheiser-Brokamp, Cristopher A Meyer, Karen Smith, Joel Moss, Francis X McCormack
BACKGROUND: Recommendations regarding key aspects related to the diagnosis and pharmacological treatment of lymphangioleiomyomatosis (LAM) were recently published. We now provide additional recommendations regarding four specific questions related to the diagnosis of LAM and management of pneumothoraces in patients with LAM. METHODS: Systematic reviews were performed and then discussed by a multidisciplinary panel. For each intervention, the panel considered its confidence in the estimated effects, the balance of desirable (i...
November 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29136194/fast-skin-dose-estimation-system-for-interventional-radiology
#11
Takeshi Takata, Jun'ichi Kotoku, Hideyuki Maejima, Shinobu Kumagai, Norikazu Arai, Takenori Kobayashi, Kenshiro Shiraishi, Masayoshi Yamamoto, Hiroshi Kondo, Shigeru Furui
To minimise the radiation dermatitis related to interventional radiology (IR), rapid and accurate dose estimation has been sought for all procedures. We propose a technique for estimating the patient skin dose rapidly and accurately using Monte Carlo (MC) simulation with a graphical processing unit (GPU, GTX 1080; Nvidia Corp.). The skin dose distribution is simulated based on an individual patient's computed tomography (CT) dataset for fluoroscopic conditions after the CT dataset has been segmented into air, water and bone based on pixel values...
November 10, 2017: Journal of Radiation Research
https://www.readbyqxmd.com/read/29135365/deep-learning-to-classify-radiology-free-text-reports
#12
Matthew C Chen, Robyn L Ball, Lingyao Yang, Nathaniel Moradzadeh, Brian E Chapman, David B Larson, Curtis P Langlotz, Timothy J Amrhein, Matthew P Lungren
Purpose To evaluate the performance of a deep learning convolutional neural network (CNN) model compared with a traditional natural language processing (NLP) model in extracting pulmonary embolism (PE) findings from thoracic computed tomography (CT) reports from two institutions. Materials and Methods Contrast material-enhanced CT examinations of the chest performed between January 1, 1998, and January 1, 2016, were selected. Annotations by two human radiologists were made for three categories: the presence, chronicity, and location of PE...
November 13, 2017: Radiology
https://www.readbyqxmd.com/read/29132998/waiting-for-radiology-test-results-patient%C3%A2-expectations-and-emotional-disutility
#13
Sean Woolen, Ella A Kazerooni, Amber Wall, Kelly Parent, Shannon Cahalan, Mitchell Alameddine, Matthew S Davenport
PURPOSE: To measure patient willingness to wait and emotional disutility of waiting for outpatient imaging test results. METHODS: A prospective HIPAA-compliant multicenter outpatient quality improvement survey was administered by a trained interviewer to 218 outpatients from November 1, 2016, to February 1, 2017. The survey was vetted by patient- and family-centered care advocates with experience in survey design and underwent precognitive testing for readability...
November 9, 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/29131002/low-tidal-volume-positive-end-expiratory-pressure-versus-high-tidal-volume-zero-positive-end-expiratory-pressure-and-postoperative-pulmonary-functions-in-robot-assisted-laparoscopic-radical-prostatectomy
#14
Murat Haliloglu, Beliz Bilgili, Mehtap Ozdemir, Tumay Umuroglu, Nurten Bakan
OBJECTIVE: The aim was to compare the effects of low tidal volume (VT) and moderate positive end-expiratory pressure(PEEP) with high tidal volume (VT) and zero end-expiratory pressure(ZEEP), on postoperative pulmonary functions and oxygenation in patients undergoing robot-assisted laparoscopic radical prostatectomy. SUBJECTS AND METHODS: Forty-four (44) patients were randomized into low VT-PEEP and high VT-ZEEP groups. The patients were ventilated with VT of 6 ml/kg and 8 cmH2O PEEP in low VT-PEEP group and VT of 10 ml/kg and 0 cmH2O PEEP in high VT-ZEEP group...
October 31, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29124382/use-of-whole-body-ct-to-detect-patterns-of-cpr-related-injuries-after-sudden-cardiac-arrest
#15
Gregor M Dunham, Alexandre Perez-Girbes, Ferdia Bolster, Kellie Sheehan, Ken F Linnau
AIMS AND OBJECTIVES: We have recently implemented a dedicated sudden cardiac arrest (SCA) - whole-body computed tomography (WBCT) protocol to evaluate SCA patients with return of spontaneous circulation (ROSC) following cardiopulmonary resuscitation (CPR). The aim of this study is to evaluate the number and pattern of CPR-related injuries in ROSC patients with SCA-WBCT. METHODS AND MATERIALS: Single-centre retrospective review of 39 patients (13 female; 20 male, mean age 51...
November 9, 2017: European Radiology
https://www.readbyqxmd.com/read/29123840/a-system-of-delivering-medical-staff-members-by-helicopter-to-manage-severely-wounded-patients-in-an-area-where-medical-resources-are-limited
#16
Kohei Ishikawa, Kazuhiko Omori, Hiromichi Ohsaka, Kei Jitsuiki, Toshihiko Yoshizawa, Yasumasa Oode, Mutsumi Sakurada, Atsuhiko Mogami, Youichi Yanagawa
Aim: We review the case of a severely injured patient to evaluate the system of delivering medical staff by helicopter in areas with limited medical resources. Methods: The patient's chart was reviewed, summarized, and presented. Results: A 22-year-old woman attempted a suicidal fall after using a knife to stab herself. She was transported to a local hospital. A radiological study revealed fractures to the patient's face and the base of her skull, pneumocephalus, traumatic subarachnoid hemorrhage, stab wounds to the neck and chest, pneumothorax, unstable pelvic fracture, and right femoral shaft fracture...
January 2017: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#17
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29115002/clinical-and-radiological-features-of-pulmonary-artery-sarcoma-a-report-of-nine-cases
#18
Xin Pu, Man Song, Xiaoyong Huang, Guangfa Zhu, Dong Chen, Huili Gan, Lianjun Huang
OBJECTIVE: To improve our understanding and facilitate early diagnosis of pulmonary artery sarcoma (PAS). METHODS: The clinical and radiological features of 9 histopathologically confirmed PAS patients were retrospectively analyzed. RESULTS: Our PAS cohort consisted of 5 males and 4 females, with insidious presentation, the main symptoms were dyspnea (88.9%), syncope (33.3%), palpitations (22.2%), chest pain (22.2%), hemoptysis (11.1%) and constitutional symptoms, including fever (44...
November 8, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/29110735/development-of-interstitial-pneumonia-during-treatment-with-eribulin-a-case-report
#19
Kota Nakamura, Motoyasu Kato, Yosuke Miyashita, Osamu Nagashima, Shinichi Sasaki, Shigeru Tominaga, Kazuhisa Takahashi
BACKGROUND: Eribulin is typically used to treat patients with advanced breast cancer, and anti-cancer agents often cause the development of interstitial pneumonia in Japanese patients with advanced cancer. However, few case reports have addressed eribulin-induced interstitial pneumonia. Herein, we report a rare case of interstitial pneumonia-specifically, organized pneumonia-during treatment with eribulin in a patient with advanced breast cancer. CASE PRESENTATION: A 52-year-old Japanese woman was diagnosed as having advanced breast cancer 3 years before the admission described in the present report...
November 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29106050/radiological-pathological-correlation-of-malignant-teratoma-with-liposarcomatous-transformation-proven-by-repeated-transthoracic-needle-biopsy
#20
Hyo-Jae Lee, Hyun Ju Seon, Yoo-Duk Choi
A mediastinal germ cell tumor with a sarcomatous component is extremely rare and is accompanied by a poor prognosis. Clinical and radiologic diagnosis is very difficult. Herein, we report a rare case of anterior mediastinal malignant teratoma containing a growing liposarcomatous component and detail the diagnostic process. The case was diagnosed by repeated transthoracic needle biopsy and correlated with changes in follow-up chest computed tomography and serum tumor markers. We also provide a review of the literature...
November 6, 2017: Thoracic Cancer
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