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https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#1
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27905971/trends-causes-and-risk-factors-of-mortality-among-children-under-5-in-ethiopia-1990-2013-findings-from-the-global-burden-of-disease-study-2013
#2
Amare Deribew, Gizachew Assefa Tessema, Kebede Deribe, Yohannes Adama Melaku, Yihunie Lakew, Azmeraw T Amare, Semaw F Abera, Mesoud Mohammed, Abiy Hiruye, Efrem Teklay, Awoke Misganaw, Nicholas Kassebaum
BACKGROUND: Ethiopia has made remarkable progress in reducing child mortality over the last two decades. However, the under-5 mortality rate in Ethiopia is still higher than the under-5 mortality rates of several low- and middle-income countries (LMIC). On the other hand, the patterns and causes of child mortality have not been well investigated in Ethiopia. The objective of this study was to investigate the mortality trend, causes of death, and risk factors among children under 5 in Ethiopia during 1990-2013...
November 14, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905939/causes-of-death-in-vanuatu
#3
Karen Carter, Viran Tovu, Jeffrey Tila Langati, Michael Buttsworth, Lester Dingley, Andy Calo, Griffith Harrison, Chalapati Rao, Alan D Lopez, Richard Taylor
BACKGROUND: The population of the Pacific Melanesian country of Vanuatu was 234,000 at the 2009 census. Apart from subsistence activities, economic activity includes tourism and agriculture. Current completeness of vital registration is considered too low to be usable for national statistics; mortality and life expectancy (LE) are derived from indirect demographic estimates from censuses/surveys. Some cause of death (CoD) data are available to provide information on major causes of premature death...
March 15, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#4
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
December 1, 2016: Neurological Research
https://www.readbyqxmd.com/read/27905186/severe-asthma-current-management-targeted-therapies-and-future-directions-a-roundtable-report
#5
REVIEW
Vanessa M McDonald, Steven Maltby, Helen K Reddel, Gregory G King, Peter A B Wark, Lorraine Smith, John W Upham, Alan L James, Guy B Marks, Peter G Gibson
Asthma is a chronic respiratory disease characterized by respiratory symptoms, airway inflammation, airway obstruction and airway hyper-responsiveness. Asthma is common and directly affects 10% of Australians, 1-5% of adults in Asia and 300 million people worldwide. It is a heterogeneous disorder with many clinical, molecular, biological and pathophysiological phenotypes. Current management strategies successfully treat the majority of patients with asthma who have access to them. However, there is a subset of an estimated 5-10% of patients with asthma who have severe disease and are disproportionately impacted by symptoms, exacerbations and overall illness burden...
November 30, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#6
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27902668/pneumatosis-intestinalis-due-to-child-abuse
#7
Stephanie Anne Deutsch, Cindy W Christian
Pneumatosis intestinalis (PI) and the presence of portal venous gas (PVG) are commonly considered pathognomonic for necrotizing enterocolitis in the neonatal period; however, these 2 radiographic findings have been documented in all age groups in a variety of clinical settings and medical conditions including respiratory, cardiac, rheumatologic, gastrointestinal disorders, and traumatic injury. In children, intramural dissection of intestinal gas in the absence of clinical symptoms suggestive of necrotizing enterocolitis should raise concern for a traumatic etiology, including injuries sustained from child physical abuse...
November 29, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27902615/the-prognostic-significance-of-the-birmingham-vasculitis-activity-score-bvas-with-systemic-vasculitis-patients-transferred-to-the-intensive-care-unit-icu
#8
Federico Biscetti, Angela Carbonella, Federico Parisi, Silvia Laura Bosello, Franco Schiavon, Roberto Padoan, Elisa Gremese, Gianfranco Ferraccioli
Systemic vasculitides represent a heterogeneous group of diseases that share clinical features including respiratory distress, renal dysfunction, and neurologic disorders. These diseases may often cause life-threatening complications requiring admission to an intensive care unit (ICU). The aim of the study was to evaluate the validity and responsiveness of Birmingham Vasculitis Activity Score (BVAS) score to predict survival in patients with systemic vasculitides admitted to ICU.A retrospective study was carried out from 2004 to 2014 in 18 patients with systemic vasculitis admitted to 2 different Rheumatology divisions and transferred to ICU due to clinical worsening, with a length of stay beyond 24 hours...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27899401/neonatal-and-childhood-neurodevelopmental-health-and-educational-outcomes-of-children-exposed-to-antidepressants-and-maternal-depression-during-pregnancy-protocol-for-a-retrospective-population-based-cohort-study-using-linked-administrative-data
#9
Deepa Singal, Marni Brownell, Dan Chateau, Chelsea Ruth, Laurence Y Katz
INTRODUCTION: Antidepressants are commonly prescribed during pregnancy; however, there are inconsistent data on the safety of these medications during the prenatal period. To address this gap, this study will investigate short-term and long-term neurodevelopmental, physical and mental health, and educational outcomes of children who have been exposed to selective serotonin reuptake inhibitors (SSRIs) or selective serotonin norepinephrine reuptake inhibitors (SNRIs) and/or maternal depression during pregnancy...
November 29, 2016: BMJ Open
https://www.readbyqxmd.com/read/27895951/persistent-tachypnea-and-alveolar-hemorrhage-in-an-infant-an-unexpected-etiology
#10
John Bishara, Angela Webb, Christina Valsamis, Claudia Halaby, Melodi Pirzada
Persistent tachypnea and failure to thrive during infancy have a broad differential diagnosis which includes pulmonary and cardiovascular disorders. Diffuse alveolar hemorrhage (DAH) is a rare entity in children. DAH requires an extensive work-up as certain conditions may need chronic therapy. Cardiovascular disorders are included in the etiology of DAH. We present a case of an 8-month-old female with a moderate, restrictive patent ductus arteriosus (PDA) admitted to the hospital with respiratory distress and failure to thrive...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27894686/the-use-of-the-lymphocyte-cytokinesis-block-micronucleus-assay-for-monitoring-pesticide-exposed-populations
#11
REVIEW
Claudia Bolognesi, Nina Holland
Pesticides are widely used around the world, and hundreds of millions of people are exposed annually in occupational and environmental settings. Numerous studies have demonstrated relationships between pesticide exposure and increased risk of cancers, neurodegenerative and neurodevelopmental disorders, respiratory diseases and diabetes. Assessment of genotoxicity of pesticides and biomonitoring their effect in exposed populations is critical for a better regulation and protection, but it can be complicated because pesticides are often used as complex mixtures...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27894447/differentiating-familial-neuropathies-from-guillain-barr%C3%A3-syndrome
#12
REVIEW
Brett J Bordini, Priya Monrad
Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggestive of inherited neuropathies. GBS is typically characterized by the acute onset of ascending flaccid paralysis, areflexia, and dysesthesia secondary to peripheral nerve fiber demyelination. The disorder usually arises following a benign gastrointestinal or respiratory illness, is monophasic, reaches a nadir with several weeks, and responds to immunomodulatory therapy...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27891260/intravenous-vitamin-c-administered-as-adjunctive-therapy-for-recurrent-acute-respiratory-distress-syndrome
#13
Amit Bharara, Catherine Grossman, Daniel Grinnan, Aamer Syed, Bernard Fisher, Christine DeWilde, Ramesh Natarajan, Alpha A Berry Fowler
This case report summarizes the first use of intravenous vitamin C employed as an adjunctive interventional agent in the therapy of recurrent acute respiratory distress syndrome (ARDS). The two episodes of ARDS occurred in a young female patient with Cronkhite-Canada syndrome, a rare, sporadically occurring, noninherited disorder that is characterized by extensive gastrointestinal polyposis and malabsorption. Prior to the episodes of sepsis, the patient was receiving nutrition via chronic hyperalimentation administered through a long-standing central venous catheter...
2016: Case Reports in Critical Care
https://www.readbyqxmd.com/read/27891065/trends-causes-and-risk-factors-of-mortality-among-children-under-5-in-ethiopia-1990-2013-findings-from-the-global-burden-of-disease-study-2013
#14
Amare Deribew, Gizachew Assefa Tessema, Kebede Deribe, Yohannes Adama Melaku, Yihunie Lakew, Azmeraw T Amare, Semaw F Abera, Mesoud Mohammed, Abiy Hiruye, Efrem Teklay, Awoke Misganaw, Nicholas Kassebaum
BACKGROUND: Ethiopia has made remarkable progress in reducing child mortality over the last two decades. However, the under-5 mortality rate in Ethiopia is still higher than the under-5 mortality rates of several low- and middle-income countries (LMIC). On the other hand, the patterns and causes of child mortality have not been well investigated in Ethiopia. The objective of this study was to investigate the mortality trend, causes of death, and risk factors among children under 5 in Ethiopia during 1990-2013...
2016: Population Health Metrics
https://www.readbyqxmd.com/read/27890977/health-and-socioeconomic-status-of-the-elderly-people-living-in-hilly-areas-of-pakhribas-kosi-zone-nepal
#15
Ankit Amar Gupta, Amrit Kumar Lall, Aditi Das, Anshu Saurav, Abnish Nandan, Deepa Shah, Anand Agrahari, Deepak Kumar Yadav
BACKGROUND: The rising geriatric population is facing significant health and social problems in the developing world that are impacting the quality of their lives. OBJECTIVE: The study describes the general health status and the socioeconomic characteristics of the elderly people of Pakhribas village development committee (VDC) of Eastern Nepal. MATERIALS AND METHODS: Descriptive cross-sectional study was carried out targeting the people aged 60 years and above in the sample area using a semi-structured questionnaire and convenient sampling to get the required sample size...
October 2016: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/27890436/respiratory-acid-base-disorders-in-the-critical-care-unit
#16
REVIEW
Kate Hopper
The incidence of respiratory acid-base abnormalities in the critical care unit (CCU) is unknown, although respiratory alkalosis is suspected to be common in this population. Abnormal carbon dioxide tension can have many physiologic effects, and changes in Pco2 may have a significant impact on outcome. Monitoring Pco2 in CCU patients is an important aspect of critical patient assessment, and identification of respiratory acid-base abnormalities can be valuable as a diagnostic tool. Treatment of respiratory acid-base disorders is largely focused on resolution of the primary disease, although mechanical ventilation may be indicated in cases with severe respiratory acidosis...
November 24, 2016: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/27890378/design-and-synthesis-of-4-5-6-7-tetrahydro-1h-1-2-diazepin-7-one-derivatives-as-a-new-series-of-phosphodiesterase-4-pde4-inhibitors
#17
Sara Guariento, Anna Karawajczyk, James A Bull, Gessica Marchini, Martyna Bielska, Xenia Iwanowa, Olga Bruno, Paola Fossa, Fabrizio Giordanetto
Phosphodiesterase 4 (PDE4) inhibitors have attractive therapeutic potential in respiratory, inflammatory, metabolic and CNS disorders. The present work details the design, chemical exploration and biological profile of a novel PDE4 inhibitor chemotype. A diazepinone ring was identified as an under-represented heterocyclic system fulfilling a set of PDE4 structure-based design hypotheses. Rapid exploration of the structure activity relationships for the series was enabled by robust and scalable two/three-steps parallel chemistry protocols...
November 16, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/27890061/preoperative-screening-for-sleep-disordered-breathing-in-children-a-systematic-literature-review
#18
Erin E Bauer, Rebecca Lee, Yasmine N Campbell
Clinicians frequently underestimate or do not assess sleep-disordered breathing (SDB) in children in ambulatory surgical centers. Identifying the disorder and obtaining information relevant to anesthesia management can be assisted by the use of a standard questionnaire during preoperative assessment. We wanted to determine whether a preoperative screening tool increases clinician awareness of SDB in children and leads to a decrease in perioperative respiratory adverse events. We reviewed 21 articles to identify reliable screening tools for pediatric SDB in ambulatory surgical centers and selected six articles for the review...
December 2016: AORN Journal
https://www.readbyqxmd.com/read/27888814/diaphragmatic-dysfunction-after-thoracic-operations
#19
Henning Gaissert, Susan R Wilcox
The perioperative management of diaphragmatic weakness and phrenic nerve dysfunction is complex, due to varied etiologies and clinical presentations. The factors leading to diaphragmatic weakness may culminate after the operation with transient or persistent respiratory failure. This review discusses diaphragmatic disorders and postoperative respiratory failure caused by unilateral or bilateral diaphragmatic impairment. The origins of neuromuscular weakness involving the diaphragm are diverse, and often lie within the domains of different medical specialties, with only a portion of the condition related to surgical intervention...
November 26, 2016: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/27886422/update-in-respiratory-sleep-disorders-prologue-to-a-modern-review-series
#20
EDITORIAL
Peter R Eastwood, Mary J Morrell, Atul Malhotra
No abstract text is available yet for this article.
November 25, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
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