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https://www.readbyqxmd.com/read/27911458/spondylodiscitis-a-rare-complication-following-percutaneous-nephrostomy
#1
Francesco Chiancone, Maurizio Fedelini, Clemente Meccariello, Luigi Pucci, Marco Fabiano, Paolo Fedelini
Spondylodiscitis is an inflammation of the intervertebral disc and the adjacent vertebral bodies. The spondylodiscitis can not only be a complication of medical interventions such as an operation near spinal column but also urogenital and vascular interventions and intravenous catheter use. A 71-year-old man was admitted to our emergency department with fever and severe abdominal pain. Antibiotic therapy had been performed with intravenous administration of 2 g of ceftriaxone and the patient underwent the placement of a percutaneous nephrostomy according to Seldinger technique...
November 28, 2016: Urologia
https://www.readbyqxmd.com/read/27911450/uveal-melanoma-relatively-rare-but-deadly-cancer
#2
REVIEW
S Kaliki, C L Shields
Although it is a relatively rare disease, primarily found in the Caucasian population, uveal melanoma is the most common primary intraocular tumor in adults with a mean age-adjusted incidence of 5.1 cases per million per year. Tumors are located either in iris (4%), ciliary body (6%), or choroid (90%). The host susceptibility factors for uveal melanoma include fair skin, light eye color, inability to tan, ocular or oculodermal melanocytosis, cutaneous or iris or choroidal nevus, and BRCA1-associated protein 1 mutation...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27911430/-clinical-presentations-of-herpes-zoster-ophthalmicus-diagnosis-and-therapy
#3
G M Chernakova, E A Kleshcheva, T B Semenova
: Approximately a quarter of the world's population at some point in life is at risk of developing shingles (Herpes Zoster). In 10-20% of cases the first branch of the trigeminal nerve gets involved (Herpes Zoster Ophthalmicus, HZO). Ophthalmic complications of HZO are able to cause a significant reduction in visual function. AIM: To study and summarize clinical features of HZO (including the rate of complications and their nature) and to determine the relationship between clinical and laboratory data from these patients...
2016: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#4
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911290/rare-genetic-variant-in-sorl1-may-increase-penetrance-of-alzheimer-s-disease-in-a-family-with-several-generations-of-apoe-%C3%A9-4-homozygosity
#5
Eva Louwersheimer, Petra E Cohn-Hokke, Yolande A L Pijnenburg, Marjan M Weiss, Erik A Sistermans, Annemieke J Rozemuller, Marc Hulsman, John C van Swieten, Cock M van Duijn, Frederik Barkhof, Teddy Koene, Philip Scheltens, Wiesje M Van der Flier, Henne Holstege
BACKGROUND: The major genetic risk factor for late onset Alzheimer's disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. OBJECTIVE: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribute to the development of AD. METHODS: We identified a family with nine AD patients spanning four generations, with an inheritance pattern suggestive of autosomal dominant AD, with no variants in PSEN1, PSEN2, or APP...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911069/-urological-pathology-of-lymphatic-origin
#6
A Domènech, A Serrano, I Forner-Cordero, F Gómez, D Maldonado, C Domínguez
OBJECTIVES: Lymphatic disease is a rarely cause of some very unspecific genitourinary manifestations, assuming a diagnostic challenge in most cases. The aim of this paper is to warn about the possible etiology of these urological lymphatic presentations and discuss its management. METHODS: Retrospective review of clinical data in pediatric patients with urological pathology of lymphatic origin between 2008-2014. Three patients, two boys and a girl, were included...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27910944/thyroid-sclerosing-mucoepidermoid-carcinoma-with-eosinophilia-a-clinicopathologic-and-molecular-analysis-of-a-distinct-entity
#7
Akeesha A Shah, Kristin La Fortune, Caitlyn Miller, Stacey E Mills, Zubair Baloch, Virginia LiVolsi, Sanja Dacic, Alyssa L Mahaffey, Marina Nikiforova, Yuri E Nikiforov, Raja R Seethala
Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare thyroid neoplasm of uncertain pathogenesis that resembles salivary gland mucoepidermoid carcinoma. This multi-institutional study characterizes the clinicopathologic and molecular features of this tumor by utilizing next-generation sequencing to assess common mutations and gene fusions involved in thyroid carcinogenesis as well as fluorescence in-situ hybridization for MAML2 translocations typical of salivary gland mucoepidermoid carcinoma. Nine cases (6 females and 3 males, mean age: 59 years, range 30-77 years) were identified...
December 2, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#8
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27910801/epidemiologic-and-therapeutic-aspects-of-refractory-coeliac-disease-a-systematic-review
#9
Sara Anna Rowinski, Erik Christensen
INTRODUCTION: Refractory coeliac disease (RCD) is a rare and severe malabsorptive disease. The condition has two subtypes: RCDI and RCDII. Different treatments have been tested: and because RCD has a poor prognosis due to progress to enteropathy-associated T-cell lymphoma, the aim was to review the epidemiologic aspects and the therapeutic options for RCD. METHODS: A systematic literature search was performed in 18 databases, and 122 records were identified. Incidence, prevalence, treatment methods and their efficacy were evaluated...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27910720/the-management-of-infection-with-mycobacterium-tuberculosis-in-young-children-post-2015-an-opportunity-to-close-the-policy-practice-gap
#10
Stephen M Graham
The treatment of infection with Mycobacterium tuberculosis in young children is supported by universal policy based on strong rationale and evidence of effectiveness, but has rarely been implemented in tuberculosis endemic countries. Areas covered: This review highlights a number of important recent developments that provide an unprecedented opportunity to close the policy-practice gap, as well as ongoing needs to facilitate implementation under programmatic conditions and scale-up. Expert commentary: The WHO's End TB Strategy and Stop TB Partnership's Plan to End TB provide ambitious targets for prevention at a time when National Tuberculosis Programs in tuberculosis endemic countries are increasing attention to the challenges of management and prevention of tuberculosis disease in children...
December 2, 2016: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/27910131/whole-exome-association-of-rare-deletions-in-multiplex-oral-cleft-families
#11
Jack Fu, Terri H Beaty, Alan F Scott, Jacqueline Hetmanski, Margaret M Parker, Joan E Bailey Wilson, Mary L Marazita, Elisabeth Mangold, Hasan Albacha-Hejazi, Jeffrey C Murray, Alexandre Bureau, Jacob Carey, Stephen Cristiano, Ingo Ruczinski, Robert B Scharpf
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based study designs. However, the extent to which rare deletions in coding regions of the genome occur and contribute to risk of nonsyndromic clefts is not well understood...
December 1, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/27909793/epidermolysis-bullosa-house-austria-and-epidermolysis-bullosa-clinical-network-example-of-a-centre-of-expertise-implemented-in-a-european-reference-network-to-face-the-burden-of-a-rare-disease
#12
Martin Laimer, Gabriela Pohla-Gubo, Anja Diem, Christine Prodinger, Johann W Bauer, Helmut Hintner
Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities...
December 1, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27909786/calcific-tendinopathy-of-the-shoulder-with-intraosseous-extension-outcomes-of-ultrasound-guided-percutaneous-irrigation
#13
Michail E Klontzas, Evangelia E Vassalou, Apostolos H Karantanas
OBJECTIVES: Rotator cuff calcific tendinopathy (RCCT) with intraosseous extension is a rare complication of tendinous and peritendinous involvement. The purpose of our study is to evaluate the outcome of ultrasound-guided percutaneous irrigation of calcific tendinopathy (US-PICT) in patients with intraosseous involvement. MATERIALS AND METHODS: From January 2011 to June 2014, patients with a clinical and imaging diagnosis of RCCT were prospectively categorised in two groups based on imaging findings: group A (10 patients) with intraosseous RCCT and group B (control group 35 patients) without osseous involvement...
December 1, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27909727/anti%C3%A2-proliferative-activity-of-epigallocatechin%C3%A2-3%C3%A2-gallate-and-silibinin-on-soft-tissue-sarcoma-cells
#14
Kamran Harati, Björn Behr, Christoph Wallner, Adrien Daigeler, Tobias Hirsch, Frank Jacobsen, Marcus Renner, Ali Harati, Marcus Lehnhardt, Mustafa Becerikli
Disseminated soft tissue sarcomas (STS) present a therapeutic dilemma. The first-line cytostatic doxorubicin demonstrates a response rate of 30% and is not suitable for elderly patients with underlying cardiac disease, due to its cardiotoxicity. Well‑tolerated alternative treatment options, particularly in palliative situations, are rare. Therefore, the present study assessed the anti‑proliferative effects of the natural compounds epigallocatechin-3-gallate (EGCG), silibinin and noscapine on STS cells. A total of eight different human STS cell lines were used in the study: Fibrosarcoma (HT1080), liposarcoma (SW872, T778 and MLS‑402), synovial sarcoma (SW982, SYO1 and 1273) and pleomorphic sarcoma (U2197)...
November 28, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27909691/6q24-transient-neonatal-diabetes-how-to-manage-while-waiting-for-genetic-results
#15
Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide)...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27909682/case-report-of-invasive-disseminated-candidiasis-with-peripheral-nodular-cavitary-lesions-in-the-lung
#16
Hafiza Arshad, Silvia Garcia, Misbahuddin Khaja
We report a case of invasive candidiasis presenting as multiple lung nodules and cavitary lesions with minimal pleural effusion. Candida infections of the lung are rare but can occur after hematologic dissemination of the yeast from other body sites, such as the skin and the gastrointestinal and genitourinary tracts. Here, we describe the case of a 56-year-old female with a history of end-stage renal disease (ESRD) who presented with fever, productive cough, and pulmonary nodules and cavitary lesions seen on a chest computed tomography (CT)...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27909635/secondary-neuroendocrine-carcinoma-following-high-dose-radiotherapy-for-head-and-neck-cancer-report-of-two-cases
#17
Amandeep S Taggar, Roderick Simpson, Desiree Hao, Marc Webster, Moosa Khalil, John Lysack, David Skarsgard
Patients treated with radiation have an increased risk of developing second cancers, of which carcinomas, sarcomas, and hematological malignancies have most commonly been reported. Neuroendocrine carcinomas (NEC) are rarely reported in patients previously treated with radiation. Two patients, who had successfully undergone chemoradiotherapy for head and neck cancers at our institution, developed secondary NEC within the radiation field more than five years after the treatment. Both patients underwent curative-intent treatment of secondary malignancies, one with chemotherapy, radiation and surgery (Case 1) and the other with chemotherapy and surgery (Case 2)...
October 25, 2016: Curēus
https://www.readbyqxmd.com/read/27909609/emergency-difficult-airway-management-in-a-patient-with-severe-epidermolysis-bullosa
#18
Ahmet Selim Özkan, Gülay Erdoğan Kayhan, Sedat Akbaş, Osman Kaçmaz, Mahmut Durmuş
Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. Herein, we report a case of difficult airway management in a patient diagnosed with severe EB who presented for emergency tracheostomy because of respiratory failure under general anaesthesia...
October 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27909505/malignancy-associated-iatrogenic-iliopsoas-abscess-venous-access-complication-from-ablation-procedure
#19
Sandia Iskandar Md, Moustapha Atoui Md, Muhammad Rizwan Afzal Md, Madhav Lavu Md, Madhu Reddy Md, Dhanunjaya Lakkireddy Md
Iliopsoas abscess is a rare condition with a high rate of mortality and morbidity if left untreated. It can occur from hematogenous or lymphatic spread from distant structures or as a result of contiguous spread from adjacent structures. The disease typically occurs in patients with immunocompromised status and the symptoms can be non-specific.1,2 Generally, infectious complications from venous access during atrial fibrillation (AF) procedure are uncommon, and an iatrogenic iliopsoas abscess from percutaneous cardiac procedures has never been reported...
April 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27909278/-surgical-treatment-of-right-atrial-malignant-tumor-thrombus-under-deep-hypothermia-with-intermittent-circulatory-arrest-report-of-two-cases
#20
Akira Fujita, Toshiro Kobayashi, Hideharu Hironaka, Mitsutaka Jinbou, Naomasa Uesugi, Satoshi Saito, Tsuyoshi Takahashi, Hidenori Gohra
Right atrial tumor thrombus is rare in patients with visceral malignant tumors and can cause right heart failure or sudden death. We present 2 cases of right atrial tumor thrombus treated under deep hypothermic intermittent circulatory arrest (DHICA). A 45-year-old man with right heart failure was diagnosed with right renal cancer extending to the right atrium. Computed tomography revealed no metastasis. He underwent right nephrectomy and tumor thrombus resection under DHICA. He was discharged on postoperative day 11 in good clinical course...
December 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
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