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respiratory disorders

Iván José Ardila Gómez, Diana Alejandra Ruiz Rodríguez, María Rosalba Pardo Carrero
INTRODUCTION: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. OBJECTIVE: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. CLINICAL CASE: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization...
December 2017: Revista Chilena de Pediatría
Daniel Zenteno, Aldo Bancalari, Ximena Navarro, Valentina Díaz, Iván Rodríguez-Núñez, Pablo Brockmann
INTRODUCTION: Night Continuous Saturometry (CSO2) is used in Neonatal Units to detect events of hypoxemia in Newborns (NB) with apnea episodes. Polygraphy (PG) has a larger number of measuring channels. Our goal was to evaluate the diagnostic performance of CSO2 compared to Polygra phy in NB with suspected sleep apneas. PATIENTS AND METHOD: Results of CSO2 and PG performed simultaneously in RN with suspected apneas were retrospectively analyzed over a three-year period...
December 2017: Revista Chilena de Pediatría
Latinka Basara, Nataša Jokić Begić, Sanja Popović Grle, Marko Jakopović, Miroslav SamarŽija
Dyspnea or breathlessness is a term primarily used in respiratory medicine. Nevertheless, in the last fifteen years, studies from other fields focus on the affective component of this complex phenomenon due to the frequent observation that psychological states can cause or be caused by dyspnea. Research so far shows that besides the biological component, dyspnea has a strong emotional and psychosocial determinant. This means that apart from its biological factors, dyspnea and its intensity are affected by emotions, personality, anxiety and depression, etc...
March 2018: Psychiatria Danubina
Manon Auffret, Sophie Drapier, Marc Vérin
Apomorphine is now recognized as the oldest antiparkinsonian drug on the market. Though still underused, it is increasingly prescribed in Europe for patients with advanced Parkinson's disease (PD) with motor fluctuations. However, its history is far from being limited to movement disorders. This paper traces the history of apomorphine, from its earliest empirical use, to its synthesis, pharmacological development, and numerous indications in human and veterinary medicine, in light of its most recent uses and newest challenges...
March 15, 2018: Drugs in R&D
Ana Carolina Lima Cavaletti, Célia Pereira Caldas, Kenio Costa de Lima
OBJECTIVES: To identify the diseases that lead older persons to hospitalizations in the public health system in the state of Rio de Janeiro and, through a study of spatial distribution among hospitalization rates of the municipal districts, discuss the social contexts involved in the hospitalization of the elderly. METHODS: An ecological cross-sectional study using secondary data from the Brazilian hospital information system from the period 2009 to 2015 was performed...
March 12, 2018: Value in Health Regional Issues
Claire M Lawlor, Charles A Riley, John M Carter, Kimsey H Rodriguez
Importance: The 1996 Tonsillectomy and Adenoidectomy Inpatient Guidelines of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) Pediatric Otolaryngology Committee recommended that children younger than 3 years be admitted following tonsillectomy. Recommendations for hospital observation were not included as a key action statement in the 2011 AAO-HNS Clinical Practice Guidelines for Tonsillectomy in Children. Objective: To examine the association between posttonsillectomy complication rate and the age and weight of the child at the time of surgery...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
Hadil Ak AlOtair, Abdulaziz H Alzeer, Mohammed A Abdou, Shaden O Qasrawi
Central alveolar hypoventilation is rarely encountered. This case report describes a young woman who was recently diagnosed with hypertension and ischemic heart disease. She presented to the emergency room with hypercapnic respiratory failure, for which she was mechanically ventilated. This was preceded by an acute upper respiratory tract infection. She was initially suspected to have Guillain-Barré syndrome, but further investigations ruled out neuromuscular or autoimmune disorders. Sleep-related hypoventilation was suspected after she experienced recurrent apneas at night that resulted in re-intubation...
March 2018: Saudi Medical Journal
Edmund Burke, Sanjeev A Datar
PURPOSE OF REVIEW: The essential role of the lymphatic system in fluid homeostasis, nutrient transport, and immune trafficking is well recognized; however, there is limited understanding of the mechanisms that regulate lymphatic function, particularly in the setting of critical illness. The lymphatics likely affect disease severity and progression in every condition, from severe systemic inflammatory states to respiratory failure. Here, we review structural and functional disorders of the lymphatic system, both congenital and acquired, as they relate to care of the pediatric patient in the intensive care setting, including novel areas of research into medical and procedural therapeutic interventions...
March 13, 2018: Current Opinion in Pediatrics
Yuanhan Bai, Xi Yang, Zhiqiang Zeng, Haichen Yang
BACKGROUND: Ritualistic behaviors are common in obsessive compulsive disorder (OCD), while catatonic stupor occasionally occurs in psychotic or mood disorders. Schizoaffective disorder is a specific mental disorder involving both psychotic and affective symptoms. The syndrome usually represents a specific diagnosis, as in the case of the 10th edition of the International Classification of Diseases (ICD-10) or the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5)...
March 13, 2018: BMC Psychiatry
A Dunham, D Kinnear, L Allan, E Smiley, S-A Cooper
BACKGROUND: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities. AIMS: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health...
March 12, 2018: Journal of Intellectual Disability Research: JIDR
B N Conway, M F Lopes-Virella, W J Blot
AIMS: To estimate the overall and cause-specific mortality in a population of African-Americans and white Americans with a low socio-economic status who had young-onset insulin-treated diabetes and had survived beyond the age of 40 years, and to examine whether any excess risk varied according to age at diabetes onset. METHODS: Using the Southern Community Cohort Study, we conducted a mortality follow-up of a cohort of mostly low-income participants aged 40-79 years (mean 50 years) at cohort entry with insulin-treated diabetes diagnosed before age 30 years (n=475) and without diabetes (n=62 266)...
March 12, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
Diego Z Carvalho, Erik K St Louis, David S Knopman, Bradley F Boeve, Val J Lowe, Rosebud O Roberts, Michelle M Mielke, Scott A Przybelski, Mary M Machulda, Ronald C Petersen, Clifford R Jack, Prashanthi Vemuri
Importance: Aging is associated with excessive daytime sleepiness (EDS), which has been linked to cognitive decline in the elderly. However, whether EDS is associated with the pathologic processes of Alzheimer disease remains unclear. Objective: To investigate whether EDS at baseline is associated with a longitudinal increase in regional β-amyloid (Aβ) accumulation in a cohort of elderly individuals without dementia. Design, Setting, and Participants: This prospective analysis included participants enrolled in the Mayo Clinic Study of Aging, a longitudinal population-based study in Olmsted County, Minnesota...
March 12, 2018: JAMA Neurology
Kostoula Troulinaki, Sven Büttner, Anaïs Marsal Cots, Simona Maida, Katharina Meyer, Fabio Bertan, Anna Gioran, Antonia Piazzesi, Alessandra Fornarelli, Pierluigi Nicotera, Daniele Bano
Impaired mitochondrial energy metabolism contributes to a wide range of pathologic conditions, including neurodegenerative diseases. Mitochondrial apoptosis-inducing factor (AIF) is required for the correct maintenance of mitochondrial electron transport chain. An emerging body of clinical evidence indicates that several mutations in the AIFM1 gene are causally linked to severe forms of mitochondrial disorders. Here we investigate the consequence of WAH-1/AIF deficiency in the survival of the nematode Caenorhabditis elegans ...
December 2018: Cell Death Discovery
Petra Bilić, Nicolas Guillemin, Alan Kovačević, Blanka Beer Ljubić, Ines Jović, Asier Galan, Peter David Eckersall, Richard Burchmore, Vladimir Mrljak
Idiopathic dilated cardiomyopathy (iDCM) is a primary myocardial disorder with an unknown aetiology, characterized by reduced contractility and ventricular dilation of the left or both ventricles. Naturally occurring canine iDCM was used herein to identify serum proteomic signature of the disease compared to the healthy state, providing an insight into underlying mechanisms and revealing proteins with biomarker potential. To achieve this, we used high-throughput label-based quantitative LC-MS/MS proteomics approach and bioinformatics analysis of the in silico inferred interactome protein network created from the initial list of differential proteins...
March 9, 2018: Journal of Proteomics
Roxanne Labranche, Guillaume Gilbert, Milena Cerny, Kim-Nhien Vu, Denis Soulières, Damien Olivié, Jean-Sébastien Billiard, Takeshi Yokoo, An Tang
Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Roberto W Dal Negro, Alessandro Zanasi, Paola Turco, Massimiliano Povero
Background: Influenza and influenza-like syndromes (I-LSs) are infectious diseases occurring on a seasonal basis which can lead to upper (URTI) and lower respiratory tract illness (LRTI) of different severity. The approach to these disorders is unfortunately not uniform. Aim of the study was to investigate real-life people beliefs, the attitude to their prevention and treatment, and their impact in general population. Methods: A cross-sectional survey via Computer Assisted Telephone Interview (CATI) was carried out using a specific questionnaire investigating influenza episode rates, subjects behavior in case of influenza and I-LSs, and prescribed therapy...
2018: Multidisciplinary Respiratory Medicine
Jahnavi Aluri, Maya Gupta, Aparna Dalvi, Snehal Mhatre, Manasi Kulkarni, Gouri Hule, Mukesh Desai, Nitin Shah, Prasad Taur, Ramprasad Vedam, Manisha Madkaikar
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typically present with severe respiratory and gastrointestinal tract infections. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy available for treating these patients...
2018: Frontiers in Immunology
Christian Hendriksz, Saikat Santra, Simon A Jones, Tarekegn Geberhiwot, Lynne Jesaitis, Brian Long, Yulan Qi, Sara M Hawley, Celeste Decker
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa in patients with Morquio A syndrome from 2 sequential studies, MOR-002 (ClinicalTrials.govNCT00884949) and MOR-100 (NCT01242111), representing >5 years of clinical study data. MOR-002 was an open-label, single-arm phase 1/2 study that evaluated the pharmacokinetics, safety, immunogenicity, and preliminary efficacy of 3 sequential doses of elosulfase alfa (0...
February 19, 2018: Molecular Genetics and Metabolism
Mehdi Torabizadeh, Mohammad Nabavi, Masoud Zadkarami, Mohammad Shahrooei
Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome...
March 7, 2018: Current Research in Translational Medicine
Martin Picard, Aric A Prather, Eli Puterman, Alexanne Cuillerier, Michael Coccia, Kirstin Aschbacher, Yan Burelle, Elissa S Epel
BACKGROUND: Chronic life stress, such as the stress of caregiving, can promote pathophysiology, but the underlying cellular mechanisms are not well understood. Chronic stress may induce recalibrations in mitochondria leading to changes either in mitochondrial content per cell, or in mitochondrial functional capacity (i.e., quality). METHODS: Here we present a functional index of mitochondrial health (MHI) for human leukocytes that can distinguish between these two possibilities...
February 3, 2018: Biological Psychiatry
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