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https://read.qxmd.com/read/30896626/cerebral-embolism-during-edoxaban-administration-for-venous-thromboembolism-in-a-patient-with-lung-adenocarcinoma-a-case-report
#1
Satoshi Nakao, Takeshi Masuda, Shinjiro Sakamoto, Kakuhiro Yamaguchi, Yasushi Horimasu, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada, Noboru Hattori
RATIONALE: The efficacy of direct oral anticoagulants (DOACs) in the treatment and prophylaxis of cancer-related venous thromboembolism (VTE) is reportedly similar to that of heparin. However, the effect of DOACs on the prophylaxis of cancer-related arterial thromboembolism (ATE) remains unclear. To our knowledge, we present the 1st case where cerebral ATE was encountered during edoxaban administration for VTE in a patient with lung adenocarcinoma. PATIENT CONCERNS: In March 2017, a 63-year-old female was diagnosed with lung adenocarcinoma (cT2aN3M1b stage IVa) along with having asymptomatic VTE; thus, 60 mg/day edoxaban administration was initiated...
March 2019: Medicine (Baltimore)
https://read.qxmd.com/read/30888457/diagnostic-accuracy-of-imaging-modalities-in-the-detection-of-clinically-diagnosed-de-quervain-s-syndrome-a-systematic-review
#2
Brodwen McBain, Ebonie Rio, Jill Cook, Rafal Grabinski, Sean Docking
OBJECTIVES: To collate and synthesise the literature to provide estimates of the diagnostic accuracy of imaging modalities, and summarise the reported imaging findings associated with de Quervain's syndrome. MATERIALS AND METHODS: A systematic search was performed in seven databases (MEDLINE, EMBASE, CINAHL, Cochrane Library, PROSPERO, Web of Science, and ProQuest Dissertations & Theses Global). Two reviewers independently performed screening, data extraction and quality assessment using a modified Quality Assessment of Diagnostic Accuracy Studies-2...
March 19, 2019: Skeletal Radiology
https://read.qxmd.com/read/30885166/a-newborn-with-seizures-born-to-a-mother-diagnosed-with-primary-carnitine-deficiency
#3
Si Chen, Yingying Hu, Yumei Huang, Yan Nan, Xiaojian Zhou, Shangqin Chen, Jin Lin, Zhenlang Lin
BACKGROUND: Maternofetal carnitine transport through the placenta is the main route of fetal carnitine uptake. Decreased free carnitine levels discovered by newborn screening has identified many asymptomatic adult women with systemic primary carnitine deficiency (PCD). Here, we presented amplitude integrated electroencephalogram (aEEG) and magnetic resonance imaging (MRI) findings from a neonate with epilepsy whose mother was carnitine deficient. CASE PRESENTATION: A one-day-old female newborn was admitted after experiencing seizures for half a day; status epilepticus was found on the continuous normal voltage background pattern with immature sleep-wake cycling during aEEG monitoring...
March 18, 2019: BMC Pediatrics
https://read.qxmd.com/read/30878436/imaging-risk-in-multisystem-inflammatory-diseases
#4
REVIEW
Ignatios Ikonomidis, George Makavos, Pelagia Katsimbri, Dimitrios T Boumpas, John Parissis, Efstathios Iliodromitis
Rheumatic diseases are immune-mediated inflammatory multisystem diseases with frequent cardiovascular manifestations including perimyocarditis, valvular disease, coronary artery disease, heart failure with or without preserved ejection fraction, pulmonary hypertension, aneurysms, and thrombosis. Echocardiography, carotid ultrasonography, cardiac computed tomography, cardiac magnetic resonance imaging, and positron emission tomography are valid diagnostic tools for the detection of the cardiovascular complications of the multisystem diseases that frequently determine prognosis...
March 8, 2019: JACC. Cardiovascular Imaging
https://read.qxmd.com/read/30862669/association-of-venous-varix-and-developmental-venous-anomaly-report-of-a-case-and-review-of-literature
#5
Suprava Naik, Sanjeev K Bhoi
Cerebral developmental venous anomalies (DVAs) are the most frequently encountered cerebral vascular malformation. Most are asymptomatic and incidentally detected. Here we present a case of DVA associated with venous varix presented with chronic headache. A 50-year-old woman presented with right hemicranial headache since 6 months. There was no neurological deficit. MRI showed a well-defined oval T2 hyperintense, T1 isointense extra-axial lesion in the right parietal region showing intense homogeneous enhancement...
March 12, 2019: BMJ Case Reports
https://read.qxmd.com/read/30854641/anxiety-and-depression-symptoms-disrupt-resting-state-connectivity-in-patients-with-genetic-generalized-epilepsies
#6
Danielle Dos Santos Garcia, Marina Sconzo Polydoro, Marina Kutsodontis Machado Alvim, Akari Ishikawa, José Carlos Vasques Moreira, Mateus Henrique Nogueira, Tamires Araújo Zanão, Brunno Machado de Campos, Luiz Eduardo Gomes Garcia Betting, Fernando Cendes, Clarissa L Yasuda
OBJECTIVE: To analyze the lifetime trajectories in genetic generalized epilepsies (GGEs) and investigate the impact of symptoms of anxiety and depression on resting state functional connectivity (FC). METHODS: Seventy-four GGE patients were classified according to the pharmacological response as seizure-free (12 patients), pharmacoresistant (PhR; 14 patients), and fluctuating (FL; 48 patients). Fifty-four subjects completed both the Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI), and 38 also underwent 3-T resting state functional magnetic resonance imaging...
March 10, 2019: Epilepsia
https://read.qxmd.com/read/30846796/resting-state-abnormalities-in-autism-spectrum-disorders-a-meta-analysis
#7
Way K W Lau, Mei-Kei Leung, Benson W M Lau
The gold standard for clinical assessment of Autism Spectrum Disorders (ASD) relies on assessing behavior via semi-structured play-based interviews and parent interviews. Although these methods show good sensitivity and specificity in diagnosing ASD cases, behavioral assessments alone may hinder the identification of asymptomatic at-risk group. Resting-state functional magnetic resonance imaging (rs-fMRI) could be an appropriate approach to produce objective neural markers to supplement behavioral assessments due to its non-invasive and task-free nature...
March 7, 2019: Scientific Reports
https://read.qxmd.com/read/30844635/the-histological-properties-and-possible-origin-of-cervical-thymus-with-cysts-a-case-report-and-hypotheses-about-its-development
#8
Ivan Varga, Lenka Fedorová, Martin Klein, Jozef Babala, René Jáger, Ildikó Bódi, Lukáš Plank
Ectopic accessory thymic tissue usually presents as an asymptomatic neck mass found at any level corresponding to the embryonic descent of the thymus. This tissue may contain smaller or larger cysts. However, the exact pathogenesis of "enigmatic" cervical thymic cysts remains controversial. A 7-year-old boy was referred to our workplace for the evaluation of a cervical mass. An ultrasound suggested a multi-loculated cystic mass, while CT and MRI indicated a left-sided, anteriorly located cervical mass beneath the sternocleidomastoid muscle...
February 27, 2019: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/30836432/no-evidence-of-increased-cerebrovascular-involvement-in-adult-neurologically-asymptomatic-%C3%AE-thalassaemia-a-multicentre-multimodal-magnetic-resonance-study
#9
Immacolata Tartaglione, Camilla Russo, Andrea Elefante, Martina Caiazza, Maddalena Casale, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Giovanni Amendola, Paolo Gritti, Pasquale A Carafa, Teresa Ferrantino, Antonella Centanni, Noemi Ippolito, Violetta Caserta, Tiziana Oliveto, Ilaria Granato, Gianluca Femina, Fabrizio Esposito, Sara Ponticorvo, Andrea G Russo, Antonietta Canna, Mario Ermani, Mario Cirillo, Silverio Perrotta, Renzo Manara
Multi-factorial causes jeopardize brain integrity in β-thalassaemia. Intracranial parenchymal and vascular changes have been reported among young β-thalassaemia patients but conventional magnetic resonance imaging (MRI) findings are contradictory making early MRI and magnetic resonance angiography (MRA)/venography monitoring a matter of debate. This study prospectively investigated 75 neurologically asymptomatic β-thalassaemia patients (mean-age 35·2 ± 10·7 years; 52/75 transfusion-dependent; 41/75 splenectomised) using a 3T magnetic resonance scanner; clinical, laboratory and treatment data were also collected...
March 5, 2019: British Journal of Haematology
https://read.qxmd.com/read/30820924/the-clinical-impact-of-mri-screening-for-brca-mutation-carriers-the-first-report-in-japan
#10
Wakana Murakami, Mitsuhiro Tozaki, Seigo Nakamura, Yoshimi Ide, Mayuko Inuzuka, Yuko Hirota, Kouzou Murakami, Noritsugu Takahama, Yoshimitsu Ohgiya, Takehiko Gokan
BACKGROUND: There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future. METHODS: We retrospectively reviewed 93 female (median age 43 years) BRCA1 and BRCA2 mutation carriers from our institutional clinical database from 2011 to 2017. The study population was composed of 112 breast cancers...
February 28, 2019: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://read.qxmd.com/read/30816533/clinical-diagnosis-and-genetic-counseling-of-atypical-ataxia%C3%A2-telangiectasia-in-a-chinese-family
#11
Jiangxia Cao, Ruiqin Shen, Wenqian Zhang, Bing Mao, Qirong Shi, Rui Zhou, Zijing Liu, Bing Zeng, Xiaoling Chen, Cai Zhang, Min Lu, Peng Han, Jing Wu, Aifen Zhou, Xuemei Tan
Ataxia‑telangiectasia (A‑T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene. Typically, it presents in early childhood with progressive cerebellar dysfunction, accompanied by immunodeficiency and oculocutaneous telangiectasia. In the present study, the clinical and genetic findings of a Chinese family affected with A‑T in two live siblings, the proband (II‑2) and his elder brother (II‑1), as well as a fetus (II‑3) were reported...
February 27, 2019: Molecular Medicine Reports
https://read.qxmd.com/read/30813170/doughnut-sign-of-hepatic-alveolar-echinococcosis-on-fdg-pet-ct-clinical-case-report
#12
Guohua Shen, Ying Kou, Anren Kuang
RATIONALE: A characteristic metabolic finding of hepatic alveolar echinococcosis (HAE) on positron emission tomography/computed tomography (PET/CT) correlates with morphologic features on CT and magnetic resonance imaging (MRI). PATIENT CONCERNS: A young man from an endemic area was admitted to our hospital due to right upper quadrant pain for 2 months. DIAGNOSIS: CT and MRI revealed a heterogeneous mass with calcification, consisting of central necrosis and peripheral solid inflammatory tissues...
February 2019: Medicine (Baltimore)
https://read.qxmd.com/read/30787906/broadening-the-spectrum-of-adulthood-x-linked-adrenoleukodystrophy-a-report-of-two-atypical-cases
#13
Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo
X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency...
2019: Frontiers in Neurology
https://read.qxmd.com/read/30772889/small-cell-lung-cancer-with-pituitary-metastasis-presenting-as-secondary-adrenal-insufficiency-a-case-report-and-literature-review
#14
Suheil Albert Atallah-Yunes, Jackson Clark, Shazia Samanani, Myat Soe
BACKGROUND Pituitary gland metastasis is rarely the initial presentation of metastatic cancer. Most cases of pituitary gland metastasis are asymptomatic with diabetes insipidus being the most common symptomatic presentation. It can rarely present with symptoms of hormone underproduction such as secondary adrenal insufficiency. Although pituitary gland metastasis is rare, it is underestimated, as it is commonly misdiagnosed with pituitary gland adenoma due to the lack of clear radiological criteria differentiating between both...
February 17, 2019: American Journal of Case Reports
https://read.qxmd.com/read/30766797/infant-identical-triplets-presentation-of-human-parechovirus-type-3
#15
Bryan Weichelt, Elisabeth Hooper, Brian Chow
Introduction: Human parechovirus (HPeV) infections appear common across age groups, and transmission is likely fecal-oral and through respiratory secretions. Cyclical and seasonal patterns have been described; however, HPeV has likely been previously underdiagnosed due to lack of commercially available diagnostic testing. Presentation of Case: We present identical triplets contracting HPeV Type 3. Discussion: The clinical presentation, similar to echoviruses, is broad and includes asymptomatic shedding, severe pulmonary and neurologic disease, and disseminated intravascular coagulation...
2019: IDCases
https://read.qxmd.com/read/30763930/should-focal-nodular-hyperplasia-still-be-operated-upon-analysis-of-a-case-series
#16
Enio Campos Amico, Izadora K de Souza, Juliana R Grigório Trigueiro, Fernanda Cunha Miranda, Rogério Lacerda Sousa, Adriano de Araújo Lima Liguori
BACKGROUND: Focal nodular hyperplasia (FNH) is a frequent benign liver lesion. Its course is considered benign, and there is no recommendation for its treatment. Nevertheless, the literature presents a high incidence of surgery. AIM: To evaluate the results of conservative treatment in a series of patients with presumed FNH. METHODS: The study included patients diagnosed with FNH from May 2007 to July 2017 based on conventional imaging or magnetic resonance imaging with liver-specific contrast (MRI-LSC) or lesion biopsy (histology/immunohistochemical analysis)...
February 14, 2019: Digestive Diseases
https://read.qxmd.com/read/30760330/incidental-finding-of-zinner-syndrome-in-a-greek-military-recruit-a-case-report-of-a-rare-clinical-entity
#17
Evangelos N Symeonidis, Chrysovalantis Gkekas, Ioannis Tsifountoudis, Asterios Symeonidis, Christos Georgiadis, Vasileios Kalyvas, Apostolos Malioris, Michail Papathanasiou
BACKGROUND: Zinner syndrome represents a rare congenital malformation of the urinary tract. It comprises a constellation of Wolffian duct anomalies and is almost exclusively encountered as a classic triad of seminal vesicle cysts, ejaculatory duct obstruction and renal agenesis. Patients can be either asymptomatic or symptomatic. Recently, minimally invasive surgical techniques have emerged, superseding traditional surgery for select symptomatic cases. Our case highlights the finding of a rare clinical syndrome that was incidentally detected during a routine mass screening of military recruits in the Greek Armed Forces...
February 14, 2019: Military Medical Research
https://read.qxmd.com/read/30760222/whole-exome-sequencing-identifies-a-novel-missense-variant-within-loxhd1-causing-rare-hearing-loss-in-a-chinese-family
#18
Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu
BACKGROUND: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage. CASE PRESENTATION: A 28-year-old woman suffered a bilateral profound NSHL. Impedance audiometry, temporal bone computerized tomography (TBCT) scans and magnetic resonance imaging-inner ear hydrography (MRI-IEH) did not find any obvious abnormality of middle or inner ear...
February 13, 2019: BMC Medical Genetics
https://read.qxmd.com/read/30755111/mri-findings-metal-ion-levels-and-clinical-outcome-of-a-complete-series-of-large-metal-on-metal-tha-what-s-really-going-on
#19
Daniele Marchica, Enrico Gallazzi, Giovanni Materazzi, Giulio A Battaglia, Luigi Zagra
INTRODUCTION: Metal-on-metal (MoM) large head total hip arthroplasties (THAs) were discontinued early after their introduction because of the high number of failures due to adverse reaction to metal debris (ARMD). Aim of this study is to report the clinical outcome at a mid-term follow-up (FU) of a series of large-head MoM THA. METHODS: In this prospective study, 25 hips (24 patients, 3 males, 21 females, mean age 62.44 years) who have undergone primary THA with large head (diameter ⩾36 mm) MoM prosthesis were evaluated...
November 2018: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://read.qxmd.com/read/30746014/convexity-subarachnoid-hemorrhage-secondary-to-adalidumab-in-a-patient-with-ulcerative-colitis
#20
Lucrecia Bandeo, Astrid Rausch, Miguel Saucedo, Anibal Chertcoff, Luciana Leon Cejas, Claudia Uribe Roca, Sol Pacha, Manuel Fernandez Pardal, Ricardo Reisin, Pablo Bonardo
The TNF-α antagonists are the drugs used for the treatment of ulcerative colitis (UC). Nontraumatic convexity subarachnoid hemorrhage is an infrequent nonaneurysmal subtype of subarachnoid bleeding caused mainly by reversible cerebral vasoconstriction syndrome (RCVS), cerebral amyloid angiopathy, and posterior reversible encephalopathy syndrome (PRES). We present a 26-year-old female patient with a diagnosis of UC taking Adalimumab. She received her last doses the same day she was admitted to our hospital for an acute severe UC exacerbation...
November 2018: Journal of Vascular and Interventional Neurology
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