2,681 results match your criteria Hypoventilation Syndromes


The genetics of congenital central hypoventilation syndrome: clinical implications.

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.2147/TACG.S140629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683PMC
November 2018
1 Read

Efficacy of bilevel ventilatory support in the treatment of stable patients with obesity hypoventilation syndrome: systematic review and meta-analysis.

Sleep Med 2018 Oct 10;53:153-164. Epub 2018 Oct 10.

Postgraduate Program in Pneumological Sciences, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400/2 Andar, Porto Alegre, RS, CEP 90035-003, Brazil; Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, CEP 90035-903, Brazil. Electronic address:

Objective: To systematically review the effects of bilevel ventilatory support (BVS) in patients with Obesity Hypoventilation Syndrome (OHS).

Methods: A search of databases (MEDLINE accessed by PubMed, Cochrane CENTRAL, EMBASE and LILACS) was conducted from inception to June 2018. Randomized trials comparing BVS to other therapeutic modalities such as lifestyle counseling, continuous positive airway pressure (PAP) or BVS with average volume assured pressure support for the treatment of patients with OHS were included. Read More

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http://dx.doi.org/10.1016/j.sleep.2018.09.016DOI Listing
October 2018

Adult With Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

J Clin Sleep Med 2018 Nov 29. Epub 2018 Nov 29.

Abstract: 20/27 polyalanine repeat mutation (PARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally associated with full-time ventilator dependence, Hirschsprung disease, and increased risk for cardiac asystole. We follow a 14-year-old boy with CCHS 20/27 PARM who is full-time ventilator dependent via tracheostomy and has Hirschsprung disease. His mother, age 52 years, has a history of prolonged recovery from anesthesia and an elevated serum bicarbonate level of 45 mEq/L discovered on routine blood chemistry. Read More

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November 2018
2 Reads

Left ventricular diastolic dysfunction in patients with obesity hypoventilation syndrome.

J Thorac Dis 2018 Oct;10(10):5747-5754

University Sleep Disorders Centre, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background: Obesity hypoventilation syndrome (OHS) can be complicated by several cardiovascular conditions. We assessed the prevalence and factors associated with left ventricular diastolic dysfunction (LVDD) in patients with OHS.

Methods: In this prospective observational study, all consecutive OHS patients referred to the sleep disorders clinic between January 2002 to December 2016 were included (n=113). Read More

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http://dx.doi.org/10.21037/jtd.2018.09.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236195PMC
October 2018
1 Read

Clinical approach to cardiac pauses in congenital central hypoventilation syndrome.

Pediatr Pulmonol 2018 Nov 20. Epub 2018 Nov 20.

Division and Chair of Cardiology, Spedali Civili Hospital, University of Brescia, Brescia, Italy.

Congenital central hypoventilation syndrome (CCHS) patients may have heart rhythm disorders related to autonomic nervous system dysfunction such as, sinus bradycardia and transient asystole with potentially dramatic syncopal events. The diagnosis of these cardiac alterations may be challenging with conventional periodical Holter monitoring. The case shows how continuous heart rhythm monitoring provided by the implantable cardiac monitor (ICM) may play a crucial role for their early diagnosis and the choice of the appropriate therapeutic intervention. Read More

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http://dx.doi.org/10.1002/ppul.24189DOI Listing
November 2018
5 Reads

Mecp2 Disruption in Rats Causes Reshaping in Firing Activity and Patterns of Brainstem Respiratory Neurons.

Neuroscience 2018 Nov 17;397:107-115. Epub 2018 Nov 17.

Department of Biology, Georgia State University, 50 Decatur Street, Atlanta, GA 30302, United States. Electronic address:

People with Rett Syndrome (RTT), a neurodevelopmental disorder caused by mutations in the MECP2 gene, have breathing abnormalities manifested as periodical hypoventilation with compensatory hyperventilation, which are attributable to a high incidence of sudden death. Similar breathing abnormalities have been found in animal models with Mecp2 disruptions. Although RTT-type hypoventilation is believed to be due to depressed central inspiratory activity, whether this is true remains unknown. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183073
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http://dx.doi.org/10.1016/j.neuroscience.2018.11.011DOI Listing
November 2018
5 Reads

A retrospective study on sleep-disordered breathing in Morquio-A syndrome.

Am J Med Genet A 2018 Nov 18. Epub 2018 Nov 18.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40642
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http://dx.doi.org/10.1002/ajmg.a.40642DOI Listing
November 2018
8 Reads

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1325-1333

Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.

Background Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS. Methods We conducted an observational cohort study of glucose homeostasis in seven children (3 months to 12 years) with genetically confirmed CCHS using a combination of continuous glucose monitoring (CGM), fasting studies and oral glucose tolerance test (OGTT). Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0086DOI Listing
December 2018
4 Reads

Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome.

BMJ Case Rep 2018 Nov 14;2018. Epub 2018 Nov 14.

Johns Hopkins Hospital and Health System, Baltimore, Maryland, USA.

In this case report, we describe an adult male with congenital myasthenic syndrome due to mutations in muscle-specific receptor tyrosine kinase (, c.79+2 T>G; IVS1 +2 T>G, c.2368 G>A, Val790Met) presenting with sleep apnoea and hypercapnic respiratory failure. Read More

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http://dx.doi.org/10.1136/bcr-2018-226534DOI Listing
November 2018
2 Reads

Comparison between auto-trilevel and bilevel positive airway pressure ventilation for treatment of patients with concurrent obesity hypoventilation syndrome and obstructive sleep apnea syndrome.

Sleep Breath 2018 Nov 13. Epub 2018 Nov 13.

Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital with Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China.

Purpose: Our study aims to compare the difference in clinical efficacy between auto-trilevel positive airway pressure (auto-trilevel PAP) ventilator and conventional fixed bilevel positive airway pressure (BiPAP) ventilator for obesity hypoventilation syndrome (OHS) patients with coexisting moderate or severe obstructive sleep apnea hypopnea syndrome (OSAHS).

Methods: Twenty-three OHS patients with moderate or severe OSAHS enrolled between January 2015 and September 2017 underwent ventilation by three different modes of positive airway pressure (PAP) for 8 h per night. A single variable mode was applied at the first night followed by two nights when no PAP therapy was carried out as a washout period between each mode. Read More

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http://link.springer.com/10.1007/s11325-018-1750-3
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http://dx.doi.org/10.1007/s11325-018-1750-3DOI Listing
November 2018
6 Reads

Spinal anesthesia and postoperative epidural analgesia in a patient with congenital central hypoventilation sydrome.

Korean J Anesthesiol 2018 Nov 14. Epub 2018 Nov 14.

Department of Anesthesiology and Pain Medicine, Korean Institute of Radiological & Medical Science, Seoul, KOREA.

Congenital central hypoventilation syndrome (CCHS), also known as Ondine's Curse, is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation. Patients with CCHS have adequate ventilation while awake but exhibit hypoventilation while asleep. More severely affected patients exhibit hypoventilation both when awake and when asleep. Read More

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http://dx.doi.org/10.4097/kja.d.18.00118DOI Listing
November 2018
1 Read

An unusual case of hypercapnic respiratory failure.

Respir Med Case Rep 2018 23;25:327-329. Epub 2018 Oct 23.

University of Florida College of Medicine, Pulmonary & Critical Care, USA.

Asphyxiating thoracic dystrophy (ATD also known as Jeune syndrome) is a very rare disorder with an incidence in the United States of 1 case per 100,000-130,000 live births. Chronic alveolar hypoventilation leading to concurrent hypoxia is the main cause of morbidity and mortality in these patients due to its complications. A 22-year-old male with past medical history of ATD and severe kyphoscoliosis presented with progressively worsening shortness of breath for several days. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22130071183020
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http://dx.doi.org/10.1016/j.rmcr.2018.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214860PMC
October 2018
7 Reads

Association Between 25-Hydroxyvitamin D and Bone Mineral Density in People With Obstructive Sleep Apnea Syndrome.

J Clin Densitom 2018 Oct 6. Epub 2018 Oct 6.

Gaziosmanpaşa University Faculty of Medicine, Department of Pulmonary Diseases, Tokat, Turkey.

The aim of this study was to evaluate the association between bone mineral density (BMD) and 25-hydroxyvitamin D [25(OH) D] levels in patients with obstructive sleep apnea syndrome (OSAS). This study was designed as a cross-sectional and observational study. Patients who underwent polysomnography evaluation were classified as normal, mild, moderate, severe, or position-dependent OSAS, and OSAS + obesity hypoventilation syndrome (OHS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10946950183017
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http://dx.doi.org/10.1016/j.jocd.2018.10.001DOI Listing
October 2018
2 Reads

Obstructive sleep apnea in patients surviving acute hypercapnic respiratory failure is best predicted by static hyperinflation.

PLoS One 2018 25;13(10):e0205669. Epub 2018 Oct 25.

Service de Pneumologie, Département des spécialités de médecine, Geneva University Hospitals, Geneva, Switzerland.

Rationale: Acute hypercapnic respiratory failure (AHRF) treated with non-invasive ventilation in the ICU is frequently caused by chronic obstructive pulmonary disease (COPD) exacerbations and obesity-hypoventilation syndrome, the latter being most often associated with obstructive sleep apnea. Overlap syndrome (a combination of COPD and obstructive sleep apnea) may represent a major burden in this population, and specific diagnostic pathways are needed to improve its detection early after ICU discharge.

Objectives: To evaluate whether pulmonary function tests can identify a high probability of obstructive sleep apnea in AHRF survivors and outperform common screening questionnaires to identify the disorder. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205669PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201889PMC
October 2018
1 Read

Intranasal Leptin Relieves Sleep Disordered Breathing in Mice with Diet Induced Obesity.

Am J Respir Crit Care Med 2018 Oct 12. Epub 2018 Oct 12.

Johns Hopkins University, Pulmonary and Critical Care Medicine, Baltimore, Maryland, United States.

Rationale: Leptin treats upper airway obstruction and alveolar hypoventilation in leptin deficient ob/ob mice. However, obese humans and mice with diet-induced obesity are resistant to leptin due to poor permeability of the blood-brain barrier. We propose that intranasal leptin will bypass leptin resistance and treat sleep disordered breathing in obesity. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201805-0879OC
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http://dx.doi.org/10.1164/rccm.201805-0879OCDOI Listing
October 2018
18 Reads

Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.

J Clin Transl Endocrinol 2018 Dec 27;14:5-11. Epub 2018 Sep 27.

Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark.

Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22146237183006
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http://dx.doi.org/10.1016/j.jcte.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171088PMC
December 2018
14 Reads

Risk of Left Atrial Enlargement in Obese Patients With Obesity-Induced Hypoventilation Syndrome vs Obstructive Sleep Apnea.

Ochsner J 2018 ;18(2):136-140

Department of Interventional Cardiology, Wayne State University, Detroit Medical Center, Detroit, MI.

Background: Obstructive sleep apnea (OSA) is a known risk factor for atrial fibrillation (AF) that is principally driven by left atrial enlargement. The impact of hypoventilation caused by obesity-induced hypoventilation syndrome (OHS) on left atrial diameter has not been examined. We investigated the association between OHS and left atrial diameter in obese patients. Read More

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http://dx.doi.org/10.31486/toj.17.0091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135280PMC
January 2018
4 Reads

Perioperative anesthetic management of children with congenital central hypoventilation syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation undergoing thoracoscopic phrenic nerve-diaphragm pacemaker implantation.

Paediatr Anaesth 2018 Nov 24;28(11):963-973. Epub 2018 Sep 24.

Department of Pediatric Anesthesiology, Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.

Background: Congenital Central Hypoventilation Syndrome and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation are rare neurocristopathies characterized by autonomic dysregulation including bradyarrhythmias, abnormal temperature control, and most significantly, abnormal control of breathing leading to tracheostomy and ventilator dependence as life support. Surgical advancements have made phrenic nerve-diaphragm pacemakers available, to eliminate the tether to a mechanical ventilator for 12-15 hours each day. The thoracoscopic approach to implantation has allowed for a less invasive approach which may have implications for pain control and recovery time. Read More

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http://dx.doi.org/10.1111/pan.13475DOI Listing
November 2018
1 Read

Inflammatory Markers in Patients Using Domiciliary Non-invasive Mechanical Ventilation: C Reactive Protein, Procalcitonin, Neutrophil Lymphocyte Ratio.

Front Public Health 2018 5;6:245. Epub 2018 Sep 5.

Health Sciences University Süreyyapaşa Chest Diseases and Thoracic Surgery Training and Research Hospital, Maltepe, Turkey.

Early identification and treatment of infections in patients using domiciliary non-invasive mechanical ventilation (NIMV) due to chronic respiratory failure (CRF) can reduce hospital admissions. We assessed C-reactive protein (CRP), procalcitonin, and neutrophil lymphocyte ratio (NLR) as indicators of infection/inflammation. The study was designed as a retrospective, observational, cross-sectional study, and was performed in 2016 in an intensive care unit outpatient clinic in patients using NIMV. Read More

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http://dx.doi.org/10.3389/fpubh.2018.00245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133955PMC
September 2018
3 Reads

A case scenario study for the assessment of physician's behavior in the management of COPD: the WHY study.

Int J Chron Obstruct Pulmon Dis 2018 5;13:2751-2758. Epub 2018 Sep 5.

Department of Chest Diseases, Ege University Medical Faculty, Izmir, Turkey.

Purpose: COPD diagnosis is mainly based on clinical judgment of physicians. Physicians do not also refer to COPD guidelines in their daily practice. This study aimed to assess attitudes of physicians regarding COPD diagnosis, treatment, and follow-up and to identify the factors influencing physicians' decisions in clinical practice. Read More

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http://dx.doi.org/10.2147/COPD.S154616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6130535PMC
September 2018
10 Reads

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

Eur J Med Genet 2018 Sep 15. Epub 2018 Sep 15.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.09.008DOI Listing
September 2018
1 Read

Risk factors associated with obstructive sleep apnea-hypopnea syndrome in Chinese children: A single center retrospective case-control study.

PLoS One 2018 13;13(9):e0203695. Epub 2018 Sep 13.

Department of Otolaryngology, Fuzhou Children's Hospital of Fujian Province, Fujian Medical University Hospital, Fuzhou, China.

Pediatric obstructive sleep apnea-hypopnea syndrome is caused by multiple factors. The present study aimed to investigate the potential risks of pediatric obstructive sleep apnea hypopnea syndrome (OSAHS) and their correlation with the disease severity. A total of 338 pediatric patients with OSAHS (polysomnography (PSG) diagnosis) were enrolled between June 2008 and October 2010. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203695PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136758PMC
September 2018
2 Reads

Systemic oxidative stress in congenital central hypoventilation syndrome.

Eur Respir J 2018 Nov 15;52(5). Epub 2018 Nov 15.

Sleep Breathing Disorders and SIDS Center, Meyer Children's Hospital, Florence, Italy

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http://dx.doi.org/10.1183/13993003.01497-2018DOI Listing
November 2018
2 Reads

[The clinic experience of implantable diaphragm pacer in a patient with high cervical spinal cord injury and literature review].

Zhonghua Jie He He Hu Xi Za Zhi 2018 Sep;41(9):718-723

Department of Spinal and Neural Function Reconstruction, Capital Medical University School of Rehabilitation Medicine(China Rehabilitation Research Center), Beijing 100068, China.

To report the use of implantable diaphragm pacer (IDP) in a patient with high cervical spinal cord injury(HCSCI). A 14-year-old male patient, who suffered from a HCSCI at C2 neurological level and had been on a ventilator for 2 years, received IDP in August 2017 at China Rehabilitation Research Center. A systematic literature review was performed on IDP in patients with HCSCI in Pubmed, CNKI, and Wanfang databases, using the keywords: phrenic nerve and electrical stimulation and spinal cord injury; IDP and spinal cord injury; breathing pacemaker system and spinal cord injury. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1001-0939.2018.09.013DOI Listing
September 2018
2 Reads

Obesity Hypoventilation Syndrome: Will Early Detection and Effective Therapy Improve Long-Term Outcomes?

J Clin Sleep Med 2018 Sep 15;14(9):1455-1457. Epub 2018 Sep 15.

Department of Medicine, Section of Pulmonary and Critical Care, Sleep Disorders Center, The University of Chicago Pritzker School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.5664/jcsm.7310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134243PMC
September 2018
1 Read

The Association Between Adherence to Positive Airway Pressure Therapy and Long-Term Outcomes in Patients With Obesity Hypoventilation Syndrome: A Prospective Observational Study.

J Clin Sleep Med 2018 Sep 15;14(9):1539-1550. Epub 2018 Sep 15.

Sleep Disorders Center, Department of Thoracic Medicine, University of Crete, Heraklion, Greece.

Study Objectives: To assess the role of different levels of adherence and long-term effects of positive airway pressure (PAP) therapy on gas exchange, sleepiness, quality of life, depressive symptoms, and all-cause mortality in patients with obesity hypoventilation syndrome (OHS).

Methods: A total of 252 patients with newly diagnosed OHS were followed up for a minimum of 2 years after PAP initiation. PAP adherence (h/night) was monitored. Read More

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http://dx.doi.org/10.5664/jcsm.7332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134255PMC
September 2018
1 Read

Obesity Hypoventilation Syndrome: Early Detection of Nocturnal-Only Hypercapnia in an Obese Population.

J Clin Sleep Med 2018 Sep 15;14(9):1477-1484. Epub 2018 Sep 15.

Department of Respiratory and Sleep Medicine, Royal Prince Alfred Hospital, Sydney, Australia; School of Medicine, University of Sydney, Sydney, Australia; Woolcock Institute of Medical Research, Sleep and Circadian Research Group, Sydney, Australia.

Study Objectives: Hypoventilation in obesity is now divided into five stages; stage 0 (pure obstructive sleep apnea; OSA), stages I/II (obesity-related sleep hypoventilation; ORSH) and stages III/IV (awake hypercapnia, obesity hypoventilation syndrome; OHS). Hypercapnia during the day may be preceded by hypoventilation during sleep. The goal of this study was to determine the prevalence and to identify simple clinical measures that predict stages I/II ORSH. Read More

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http://dx.doi.org/10.5664/jcsm.7318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134235PMC
September 2018
2 Reads

Coexistence of asthma and the obesity-hypoventilation syndrome.

Wiad Lek 2018;71(5):949-953

Department Of Pulmonology And Lung Cancer, Medical University In Wroclaw, Wroclaw, Poland.

Objective: Introduction: With the increasing problem of obesity in the world, high prevalence of asthma in obese persons and high prevalence of sleep breathing disorders related to obesity, the number of patients with coexisting asthma and obesity hypoventilation syndrome is likely to increase. The aim: To evaluate long-term effects of obesity hypoventilation syndrome treatment in the patients with concomitant asthma.

Patients And Methods: Materials and methods: Obesity hypoventilation syndrome was diagnosed in six adult patients with asthma (body mass index 43. Read More

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January 2018
3 Reads

[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Jan;43(1):106-112

Department of Respiratory Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.

Objective: To investigate the clinical characteristics of a patient with motor neuron disease, which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome, and to improve the diagnosis rate for this disease.
 Methods: Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient, who was accepted by the Second Xiangya Hospital, Central South University because of dyspnea, shortness of breath and malaise for 4 months, and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome. In addition, we searched CNKI, Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2018.01.017DOI Listing
January 2018
4 Reads

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a Frameshift Mutation.

J Clin Sleep Med 2018 Aug 15;14(8):1427-1430. Epub 2018 Aug 15.

Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.

Abstract: We report an unusual case of an adult patient carrying a germline frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. Read More

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http://jcsm.aasm.org/ViewAbstract.aspx?pid=31359
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http://dx.doi.org/10.5664/jcsm.7290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086954PMC
August 2018
10 Reads

[Association between hypothyroidism and sleep breathing disorders in patients with coronary heart disease].

Zhonghua Nei Ke Za Zhi 2018 Aug;57(8):571-575

Emergency & Critical Care Center, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.

To explore the association between hypothyroidism and sleep breathing disorders in patients with coronary heart disease (CHD). A total of 784 patients with CHD were consecutively enrolled at the Emergency & Critical Care Center of Beijing Anzhen Hospital from June 2015 to May 2017. According to thyroid function test results, patients were divided into hypothyroidism group (79 cases) and non-hypothyroidism group (705 cases). Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2018.08.007DOI Listing
August 2018
1 Read

[Sleep-disordered breathing in motor neuron disease].

Zh Nevrol Psikhiatr Im S S Korsakova 2018 ;118(4. Vyp. 2):119-123

Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.

Aim: To study sleep-disordered breathing (SDB) in patients with motor neuron disease (MND).

Material And Methods: Ninety-two patients, 50 women and 42 men, were examined Median age was 62 [55; 67.5] years, MND duration 12 [8. Read More

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http://dx.doi.org/10.17116/jnevro201811842119DOI Listing
January 2018
1 Read

Venovenous extracorporeal membrane oxygenation to treat hypercapnia in a morbidly obese patient.

Swiss Med Wkly 2018;148:w14639. Epub 2018 Jul 12.

Medical Intensive Care Units, University Hospital Basel, University of Basel, Switzerland.

Morbid obesity plays an increasingly important role in healthcare. Patients who are severely obese often suffer from a range of medical problems. One problem is obesity-related hypoventilation syndrome with its resulting hypercapnia. Read More

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http://dx.doi.org/10.4414/smw.2018.14639DOI Listing
December 2018
15 Reads

Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells.

Exp Cell Res 2018 Sep 20;370(2):671-679. Epub 2018 Jul 20.

Dept. of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, via Vanvitelli 32, 2019 Milan, Italy; CNR -Neuroscience Institute, via Vanvitelli 32, 20129 Milan, Italy. Electronic address:

The paired-like homeobox 2B gene (PHOX2B) encodes a key transcription factor that plays a role in the development of the autonomic nervous system and the neural structures involved in controlling breathing. In humans, PHOX2B over-expression plays a role in the pathogenesis of tumours arising from the sympathetic nervous system such as neuroblastomas, and heterozygous PHOX2B mutations cause Congenital Central Hypoventilation Syndrome (CCHS), a life-threatening neurocristopathy characterised by the defective autonomic control of breathing and involving altered CO/H chemosensitivity. The recovery of CO/H chemosensitivity and increased ventilation have been observed in two CCHS patients using the potent contraceptive progestin desogestrel. Read More

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http://dx.doi.org/10.1016/j.yexcr.2018.07.032DOI Listing
September 2018
2 Reads

Silent sinus syndrome: an unusual case of facial numbness.

Pract Neurol 2018 Dec 20;18(6):494-496. Epub 2018 Jul 20.

Department of Neurology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

A 49-year-old man presented with a 1-week history of right facial paraesthesia with blurred vision and diplopia. Examination was normal apart from reduced facial sensation. Following appropriate neuroimaging, we considered a diagnosis of silent sinus syndrome. Read More

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http://dx.doi.org/10.1136/practneurol-2017-001807DOI Listing
December 2018
3 Reads

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Orphanet J Rare Dis 2018 Jul 20;13(1):124. Epub 2018 Jul 20.

Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. Read More

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http://dx.doi.org/10.1186/s13023-018-0860-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053704PMC
July 2018
4 Reads

Home-Based Care Evolution in Chronic Respiratory Failure between 2001 and 2015 (Antadir Federation Observatory).

Respiration 2018 13;96(5):446-454. Epub 2018 Jul 13.

ANTADIR Federation, Paris, France.

Background: The aetiologies of chronic respiratory failure (CRF) are moving in many western countries. Obesity-Hypoventilation syndrome (OHS) has become one of the most common indications of non-invasive ventilation (NIV) with Chronic Obstructive Pulmonary Diseases (COPD). Long-Term Oxygen Therapy (LTOT) technology is the treatment plan for CRF patients in the new era. Read More

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http://dx.doi.org/10.1159/000490549DOI Listing
July 2018
11 Reads

Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome.

Arch Dis Child 2018 Jul 14. Epub 2018 Jul 14.

Paediatric Pulmonology Unit, First Department of Paediatrics, National and Kapodistrian University of Athens School of Medicine, Athens, Greece.

Objective: To test the hypothesis that children with Prader-Willi syndrome (PWS) and obstructive sleep apnoea syndrome (OSAS) have hypercapnia for higher proportion of total sleep time (TST) than non-syndromic children with similar obstructive apnoea-hypopnoea index (OAHI).

Design: Cross-sectional study.

Setting: Two tertiary care hospitals. Read More

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http://dx.doi.org/10.1136/archdischild-2017-314282DOI Listing
July 2018
3 Reads

Mechanical In-Exsufflation-Expiratory Flows as Indication for Tracheostomy Tube Decannulation: Case Studies.

Am J Phys Med Rehabil 2018 Jul 9. Epub 2018 Jul 9.

Department of Physical Medicine and Rehabilitation, Rutgers University - New Jersey Medical School, Department of Cardiorespiratory Rehabilitation, National University of Asunción. Facultad de Ciencias Medicas. Carrera de Kinesiología y Fisioterapia.

Mechanical insufflation exsufflation-expiratory flows (MIE-EF) correlate with upper airway patency. Patients dependent on continuous noninvasive ventilatory support (CNVS) with severe spinal muscular atrophy type 1, now over 20 years old, have used MIE sufficiently effectively along with CNVS to avoid tracheotomy indefinitely. While MIE-EF can apparently decrease in amyotrophic lateral sclerosis to necessitate tracheotomy, they can increase over time and remain effective in all spinal muscular atrophy types. Read More

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http://dx.doi.org/10.1097/PHM.0000000000000999DOI Listing
July 2018
13 Reads
2.010 Impact Factor

Sleep disordered breathing and ventilatory support in children with Down syndrome.

Pediatr Pulmonol 2018 Oct 10;53(10):1414-1421. Epub 2018 Jul 10.

Department of Pediatric Respiratory Medicine, Royal Brompton Hospital, London, United Kingdom.

Study Objectives: Obstructive sleep apnoea (OSAS) in children with Down syndrome (DS) is now well recognized, but other forms of sleep disordered breathing (SDB) in this population are less well described. Anecdotally, respiratory support for SDB treatment in this population is not easily tolerated. We aimed to characterize the types of SDB in children with DS referred to a tertiary respiratory center and to assess the effectiveness and adherence to respiratory support. Read More

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http://dx.doi.org/10.1002/ppul.24122DOI Listing
October 2018
25 Reads

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and RFVT3, respectively, are the genetic basis of this disorder, often referred to as riboflavin transporter deficiency types 2 and 3, respectively. We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction. Read More

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018
5 Reads

Nocturnal Hypoventilation May Have a Protective Effect on Ischemic Heart Disease in Patients with Obesity Hypoventilation Syndrome.

Rejuvenation Res 2018 Aug 2. Epub 2018 Aug 2.

1 Institute of Respiratory Diseases, University of Bari "Aldo Moro ," Bari, Italy .

The importance of nocturnal hypoventilation (nHyp) in the development of cardiovascular comorbidity (CVM) in patients with obesity hypoventilation syndrome (OHS) is controversial. We recently hypothesized that nHyp may have a protective effect on CVM in OHS. The aim of this study was to evaluate the link between nHyp and CVM in patients with OHS. Read More

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http://dx.doi.org/10.1089/rej.2017.2030DOI Listing
August 2018
1 Read
3.311 Impact Factor

Sleep-disordered breathing, circulating exosomes, and insulin sensitivity in adipocytes.

Int J Obes (Lond) 2018 Jun 11;42(6):1127-1139. Epub 2018 Jun 11.

Extremadura University, Caceres, Spain.

Background: Sleep-disordered-breathing (SDB), which is characterized by chronic intermittent hypoxia (IH) and sleep fragmentation (SF), is a prevalent condition that promotes metabolic dysfunction, particularly among patients suffering from obstructive hypoventilation syndrome (OHS). Exosomes are generated ubiquitously, are readily present in the circulation, and their cargo may exert substantial functional cellular alterations in both physiological and pathological conditions. However, the effects of plasma exosomes on adipocyte metabolism in patients with OHS or in mice subjected to IH or SF mimicking SDB are unclear. Read More

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http://dx.doi.org/10.1038/s41366-018-0099-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195831PMC
June 2018
15 Reads

Hypercapnia Response in Patients with Obesity-Hypoventilation Syndrome Treated with Non-Invasive Ventilation at Home.

Arch Bronconeumol 2018 Sep 2;54(9):455-459. Epub 2018 Jun 2.

Servicio de Neumología, Área de Pulmón, Hospital Universitario Central de Asturias, Oviedo, España.

Introduction: Respiratory center (RC) dysfunction has been implicated in the pathogenesis of obesity-hypoventilation syndrome (OHS), and often requires treatment with home non-invasive ventilation (NIV). Our objective was to measure the effect of NIV on RC function in patients with OHS, and the factors that determine such an effect.

Methods: We performed a prospective, repeated measures study to evaluate hypercapnia response (HR) by determining the p01/pEtCO ratio slope at baseline and after 6months of treatment with NIV in a group of OHS patients. Read More

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http://dx.doi.org/10.1016/j.arbres.2018.03.023DOI Listing
September 2018
4 Reads

Obstructive Sleep Apnea in a Severely Obese Child With Combined Central Sleep Apnea and Sleep-Related Hypoventilation Disorder Caused by a Medullary Tumor.

J Clin Sleep Med 2018 Jun 15;14(6):1071-1074. Epub 2018 Jun 15.

Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.

Abstract: A medullary tumor is a relatively rare disease that causes severe and complicated respiratory disorders, including sleep-related breathing disorders, due to dysregulation of respiratory control. A severely obese 12-year-old male was admitted to our hospital for worsening dyspnea and received a diagnosis of type II respiratory failure. Although obstructive sleep apnea (OSA) and/or obesity hypoventilation syndrome were suspected, a polysomnogram obtained during a nap (nap study) revealed central sleep apnea (CSA) and sleep-related hypoventilation disorder (SRHD) in addition to OSA. Read More

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http://dx.doi.org/10.5664/jcsm.7184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991954PMC
June 2018
12 Reads

[Evaluation of neutrophil/lymphocyte ratio and platelet/lymphocyte ratio in children of obstructive sleep apnea hypopnea syndrome].

Authors:
J L Mu B Shen

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2017 Nov;31(22):1732-1734

Department of Otolaryngology, Tianjin Children's Hospital, Tianjin, 300074, China.

To evaluate neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) in children of obstructive sleep apnea hypopnea syndrome (OSAHS). 122 cases of OSAHS patients were selected, and divided into 3 groups: mild OSAHS group (41 cases), moderate OSAHS group (41 cases), and severe OSAHS group (40 cases), according to the stage apnea hypoventilation index (AHI) and the lowest oxygen saturation (LSaO₂). In addition, 40 cases healthy children were selected as control group. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2017.22.007DOI Listing
November 2017

Diaphragm Pacing.

Clin Chest Med 2018 Jun;39(2):459-471

Physiology and Biophysics, Case Western Reserve University, MetroHealth Medical Center, 2500 MetroHealth Drive, Cleveland, OH 44109, USA. Electronic address:

Diaphragm pacing (DP) is a useful and cost-effective alternative to mechanical ventilation in patients with ventilator-dependent spinal cord injury and central hypoventilation syndrome. Patients with SCI should be carefully screened to assess the integrity of their phrenic nerves. In eligible patients, DP improves mobility, speech, olfaction, and quality of life. Read More

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http://dx.doi.org/10.1016/j.ccm.2018.01.008DOI Listing
June 2018
4 Reads

Obesity Hypoventilation Syndrome.

Clin Chest Med 2018 Jun;39(2):427-436

Emory Sleep Medicine Fellowship, Emory Sleep Center, 12 Executive Park Drive NE, Atlanta, GA 30329, USA; Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, 613 Michael Street, Northeast, Atlanta, GA 30329, USA.

Obesity hypoventilation syndrome has been noted for centuries, yet we still are trying to uncover the exact mechanisms behind the disease and best treatment modalities for patients afflicted by the condition. The syndrome, which results in symptoms based on a diverse spectrum of interactions between obesity, ventilatory drive, and sleep's impact on respiration, has been shown to worsen morbidity and mortality far beyond that of more typical sleep-disordered breathing. In this article, the authors discuss current knowledge and research about the epidemiology, pathophysiology, and clinical features, along with treatment considerations of obesity hypoventilation syndrome. Read More

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http://dx.doi.org/10.1016/j.ccm.2018.01.006DOI Listing
June 2018
3 Reads

Health-related quality of life measurement in patients with chronic respiratory failure.

Respir Investig 2018 May 9;56(3):214-221. Epub 2018 Mar 9.

Department of Respiratory Care and Sleep Control Medicine, Graduate School of Medicine, Kyoto University, 54, Kawahara, Shogoin, Sakyo-ku, Kyoto, Japan. Electronic address:

The improvement of health-related quality of life (HRQL) is an important goal in managing patients with chronic respiratory failure (CRF) receiving long-term oxygen therapy (LTOT) and/or domiciliary noninvasive ventilation (NIV). Two condition-specific HRQL questionnaires have been developed to specifically assess these patients: the Maugeri Respiratory Failure Questionnaire (MRF) and the Severe Respiratory Insufficiency Questionnaire (SRI). The MRF is more advantageous in its ease of completion; conversely, the SRI measures diversified health impairments more multi-dimensionally and discriminatively with greater balance, especially in patients receiving NIV. Read More

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http://dx.doi.org/10.1016/j.resinv.2018.01.006DOI Listing
May 2018
2 Reads

Sleep disorders in amyotrophic lateral sclerosis: A questionnaire-based study from India.

Neurol India 2018 May-Jun;66(3):700-708

Department of Neurophysiology, Sir Ganga Ram Hospital, Delhi, India.

Background: Amyotrophic lateral sclerosis (ALS) is a relatively rare neurological disorder affecting upper and lower motor neurons in the brain and spinal cord with survival for 3-5 years and rarely beyond 10 years. Sleep disturbances in ALS are underreported and undertreated and there is no related data from India. This study aimed to assess the frequency of sleep disorders in patients of ALS and their determinants. Read More

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http://dx.doi.org/10.4103/0028-3886.232327DOI Listing
May 2018
4 Reads