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Clinically isolated syndrome

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https://www.readbyqxmd.com/read/29912909/unravelling-the-pathogenic-role-and-genotype-phenotype-correlation-of-the-ush2a-p-cys759phe-variant-among-spanish-families
#1
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
INTRODUCTION: Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change. However, the pathogenic role of this allele has been questioned since it was found in homozygosity in two healthy siblings of a Spanish family. To assess the causative role of USH2A p.(Cys759Phe) in autosomal recessive RP (ARRP) and Usher syndrome type II (USH2) and to establish possible genotype-phenotype correlations associated with p...
2018: PloS One
https://www.readbyqxmd.com/read/29909407/familial-forms-of-cushing-syndrome-in-primary-pigmented-nodular-adrenocortical-disease-presenting-with-short-stature-and-insidious-symptoms-a-clinical-series
#2
Constanza Navarro Moreno, Amaury Delestienne, Etienne Marbaix, Selda Aydin, Konstanze Hörtnagel, Sarah Lechner, Yves Sznajer, Véronique Beauloye, Dominique Maiter, Philippe A Lysy
Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). Recently, phenotype/genotype correlations have been described with particular forms of CNC where PPNAD is isolated or associated only with skin lesions...
June 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29909163/update-on-multiple-endocrine-neoplasia-type-1-and-2
#3
Abdallah Al-Salameh, Camille Baudry, Régis Cohen
Multiple endocrine neoplasia type 1 is a rare genetic syndrome, characterized by the co-occurrence, in the same individual or in related individuals of the same family, of hyperparathyroidism, duodenopancraetic neuroendocrine tumors, pituitary adenomas, adrenocortical tumors, and neuroendocrine tumors (carcinoids) in the thymus, the bronchi, or the stomach. Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcinoma either isolated or associated with pheochromocytoma, primary hyperparathyroidism, or typical features (Marfanoid habitus, mucosal neuromas)...
June 13, 2018: La Presse Médicale
https://www.readbyqxmd.com/read/29905769/serologic-follow-up-of-middle-east-respiratory-syndrome-coronavirus-cases-and-contacts-abu-dhabi-united-arab-emirates
#4
Farida Ismail Al Hosani, Lindsay Kim, Ahmed Khudhair, Huong Pham, Mariam Al Mulla, Zyad Al Bandar, Krishna Pradeep, Kheir Abou Elkheir, Stefan Weber, Mary Khoury, George Donnelly, Naima Younis, Feda El Saleh, Muna Abdalla, Hala Imambaccus, Lia M Haynes, Natalie J Thornburg, Jennifer L Harcourt, Congrong Miao, Azaibi Tamin, Aron J Hall, Elizabeth S Russell, Aaron M Harris, Craig Kiebler, Roger A Mir, Kimberly Pringle, Negar N Alami, Glen R Abedi, Susan I Gerber
Background: Although there is evidence of person-to-person transmission of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in household and healthcare settings, more data are needed to describe and better understand the risk factors and transmission routes in both settings, as well as the extent that disease severity affects transmission. Methods: A sero-epidemiological investigation was conducted among Middle East Respiratory Syndrome Coronavirus (MERS-CoV) case-patients and their household contacts to investigate transmission risk in Abu Dhabi, United Arab Emirates...
June 13, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29905410/ivabradine-inhibits-carbachol-induced-contractions-of-isolated-rat-urinary-bladder
#5
Hasan Riza Aydin, Hasan Turgut, Aysegul Kurt, Ramazan Sahan, Omer Faruk Kalkan, Huseyin Eren, Ahmet Ayar
BACKGROUND: Overactive bladder (OAB), a symptom syndrome defined as urgency, is a common clinical condition, which sometimes cannot be satisfactorily treated with current medications in every subject; therefore, alternatives are needed. OBJECTIVES: The aim of this in vitro study was to investigate the effects of ivabradine, a selective pacemaker If current inhibitor, on agonist-induced isometric contractions of the bladder smooth muscles. MATERIAL AND METHODS: Urinary bladder strips were isolated from adult male Wistar rats and suspended in a tissue bath containing physiological solution...
June 14, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29904499/pituitary-stalk-interruption-syndrome-presenting-in-a-euthyroid-adult-with-short-stature
#6
Atif Nawaz, Muhammad Azeemuddin, Jehanzeb Shahid
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its most common presentation at the time of hospital encounter (Wang et al., 2015). Isolated sparing of thyroid-stimulating hormone (TSH) with deficiency of the remaining anterior pituitary hormones may be present in PSIS, as is true in our case. Therefore, it should be kept in mind at the time of examination in suspected cases of PSIS...
April 2018: Radiology case reports
https://www.readbyqxmd.com/read/29904289/identifying-suspected-familial-chylomicronemia-syndrome
#7
Ronak Rengarajan, Peter A McCullough, Anima Chowdhury, Kristen M Tecson
Familial chylomicronemia syndrome (FCS) is a rare lipid disorder posing significant clinical burdens on patients. Due to its rarity, variety of presentations, and lack of universal diagnostic criteria, patients see an average of five physicians before diagnosis. We screened adults for a triglyceride level ≥1000 mg/dL from September 2015 to September 2016 and a history of pancreatitis and performed a thorough chart review on those who met the criteria. An adjudication panel used a definition that also called for supportive information including history of hypertriglyceridemia or family history of pancreatitis/hypertriglyceridemia...
July 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29902804/congenital-hyperinsulinism-in-infants-with-turner-syndrome-possible-association-with-monosomy-x-and-kdm6a-haploinsufficiency
#8
Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon, Arupa Ganguly, Charles A Stanley
BACKGROUND: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. OBJECTIVE: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. METHODS: Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome...
June 14, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29901133/molecular-analysis-of-cypriot-families-with-aniridia-reveals-a-novel-pax6-mutation
#9
Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou-Anastasiadou, George A Tanteles
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in the group of aniridia patients associated with aniridia were nystagmus, cataracts and glaucoma...
June 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29898649/bpc157-as-potential-agent-rescuing-from-cancer-cachexia
#10
Eun A Kang, Young Min Han, Jeong Min An, Yong Jin Park, Predrag Sikiric, Deok Hwan Kim, Kwang An Kwon, Yoon Jae Kim, Donghwa Yang, Hann Tchah, Ki Baik Hahm
Cancer cachexia, one of the metabolic syndromes caused by cancer, is a devastating and miserable condition encountered in more than 50% of terminal cancer patients presenting with significant weight loss associated with skeletal muscle atrophy and fat loss. Though cachexia may account for up to 20% of cancer deaths, no significant treatment is still lacking and is of urgent unmet medical need in cancer treatment. Therefore, understanding the underlying molecular mechanisms is essential for anticipating therapeutic approaches...
June 13, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29897586/stigma-and-negative-self-perceptions-of-young-people-living-with-human-immunodeficiency-virus-in-bandung-indonesia-a-case-series
#11
Sahil Aggarwal, Luke Yu, Bima Hasjim, Debora H Lee, Esther Kim, Jonathan B Lee, Katrina Lee, Christina Tse, Alexander Anshus, Allen R Yu, Michael Louthan, Thomas Keown, Christopher Gabriel, Catherine Diamond
Background: Young people living with human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) (PLWA) are at risk for HIV stigma. Methods: The HIV/AIDS Stigma Instrument for PLWA was administered to 36 young PLWA across six clinics in Bandung, Indonesia, to assess the fear of contagion (FC), verbal abuse (VA), social isolation (SI), workplace stigma (WS), health care neglect (HCN) and negative self-perception (NSP). Results: The median scores for FC, VA, SI, WS and HCN were all 0 while the median score for NSP was 4...
June 12, 2018: International Health
https://www.readbyqxmd.com/read/29896406/first-case-report-of-human-infection-with-mycobacterium-stomatepiae
#12
Jared Weston, Sushil Pandey, Evan Matthews, Evan Bursle
Introduction: We describe the first detailed case report of human infection with Mycobacterium stomatepiae . Infection with non-tuberculous mycobacteria (NTM) related to M. stomatepiae is well described, despite the lack of previous confirmed reports of M. stomatepiae- related human disease. Localised cervical lymphadenitis is the most common NTM disease in children, with species closely related to M. stomatepiae, such as Mycobacterium triplex and Mycobacterium florentinum , having been shown to be rare causative agents...
May 2018: JMM Case Reports
https://www.readbyqxmd.com/read/29893705/pattern-of-vascular-involvement-in-egyptian-patients-with-budd-chiari-syndrome-relation-to-etiology-and-impact-on-clinical-presentation
#13
Mohammad A Sakr, Sara M Abdelhakam, Hany M Dabbous, Ahmed S Abdelmoaty, Hend E Ebada, Wael M Al-Banna, Mohamed S Ghazy, Mohamed E Aboelmaaty, Ahmed K Eldorry
INTRODUCTION AND AIM: Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction. This work aims to analyze the pattern of vascular involvement in Egyptian patients with BCS, demonstrates its relation to etiology and shows its impact on clinical presentation. MATERIAL AND METHODS: The current retrospective study was conducted at The Tropical Medicine Department, Ain Shams University on one hundred Egyptian patients with confirmed diagnosis of primary BCS who were presented to the Budd-Chiari Study Group (BCSG) from April 2014 to May 2016 by collecting clinical, laboratory and radiological data from their medical records...
July 2018: Annals of Hepatology
https://www.readbyqxmd.com/read/29892538/focal-dermal-hypoplasia-a-novel-finding-in-disguise
#14
S Nathwani, K Martin, R Bunyan
Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures. We present a case report on the management of a 58 year old Caucasian male with Focal Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Intraosseous lipomas in the head and neck region are reported in only seventeen cases in isolation of any associated syndrome...
May 2018: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/29891914/obstetric-and-vascular-antiphospholipid-syndrome-same-antibodies-but-different-diseases
#15
REVIEW
Pier Luigi Meroni, Maria Orietta Borghi, Claudia Grossi, Cecilia Beatrice Chighizola, Paolo Durigutto, Francesco Tedesco
Recurrent thrombosis and miscarriages are the main clinical manifestations of antiphospholipid syndrome (APS). Although most patients display both clinical signs, some patients can have isolated vascular or obstetric variants. Emerging data raise the question of whether obstetric and vascular APS are the same or different diseases. An important difference between the two conditions is that a thrombophilic state is a common feature in vascular APS, whereas clot occlusions of the decidual spiral arteries are seldom observed in obstetric APS, and infarctions are found in only one-third of APS placentae...
June 11, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29889472/a-case-with-angiographic-demonstration-of-isolated-anterior-spinal-artery-occlusion
#16
Vasfiye Burcu Dogan, Batuhan Kara, Hakan Hatem Selcuk, Ayten Ceyhan Dirican, Ayhan Koksal
Anterior spinal artery syndrome (ASAS) is a rare syndrome which occurs due to thrombosis of anterior spinal artery (ASA) which supplies anterior two thirds of the spinal cord. A 27-year-old female patient was admitted to emergency clinic with sudden onset neck pain, sensory loss and weakness in proximal upper extremities which occurred at rest. Thrombophilia assessment tests were negative. Echocardiography was normal. Serum viral markers were negative. In cerebrospinal fluid (CSF) examination, cell count and biochemistry was normal, oligoclonal band was negative, viral markers for herpes simplex virus (HSV) type-1 and type-2, Brucella, Borrellia, Treponema pallidum, Tuberculosis were negative...
March 30, 2018: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/29887195/misconceptions-in-acute-heart-failure-diagnosis-and-management-in-the-emergency-department
#17
REVIEW
Brit Long, Alex Koyfman, Eric J Chin
INTRODUCTION: Acute heart failure (AHF) accounts for a significant number of emergency department (ED) visits, and the disease may present along a spectrum with a variety of syndromes. OBJECTIVE: This review evaluates several misconceptions concerning heart failure evaluation and management in the ED, followed by several pearls. DISCUSSION: AHF is a heterogeneous syndrome with a variety of presentations. Physicians often rely on natriuretic peptides, but the evidence behind their use is controversial, and these should not be used in isolation...
June 1, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29879364/patterns-of-dental-agenesis-highlight-the-nature-of-the-causative-mutated-genes
#18
B P Fournier, M H Bruneau, S Toupenay, S Kerner, A Berdal, V Cormier-Daire, S Hadj-Rabia, A E Coudert, M de La Dure-Molla
The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes. The aim of this review was to analyze the dental phenotypes of syndromic and nonsyndromic dental agenesis linked to gene mutations...
June 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29877125/brain-lesion-load-and-anatomic-distribution-in-patients-with-juvenile-clinically-isolated-syndrome-predicts-rapidly-advanced-to-multiple-sclerosis
#19
Shay Menascu, Carolina Legarda, Shmuel Miron, Anat Achiron
The aim was to assess brain lesion load and anatomical distribution in patients with juvenile clinically isolated syndrome and define magnetic resonance imaging (MRI) variables associated with rapidly advancing to multiple sclerosis. Patients were followed for one year after disease onset. Patients who experienced a second relapse were defined as those who rapidly advanced to multiple sclerosis. In all, 46 juvenile patients with a clinical presentation suggestive of multiple sclerosis were evaluated; 21 with gadolinium-enhancing lesions on initial brain MRI were excluded as they had already fulfilled the diagnosis criteria for multiple sclerosis...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29876600/-diagnosis-of-multiple-sclerosis-revision-of-the-mcdonald-criteria-2017
#20
REVIEW
O Aktas, M P Wattjes, M Stangel, H-P Hartung
Multiple sclerosis (MS) is the most common chronic autoimmune disorder of the central nervous system (CNS) largely affecting young adults. The diagnosis of MS is based on two pillars: 1) detection of the spatial and temporal dissemination of focal neurological deficits and 2) exclusion of important differential diagnoses. The current revision of the diagnostic criteria (McDonald 2017) also follows these principles, takes new data on magnetic resonance imaging (MRI) into account and reintroduces the role of cerebrospinal fluid (CSF) diagnostics for relapsing-remitting forms...
June 6, 2018: Der Nervenarzt
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