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Luciana Lerendegui, Luis A Gauto, Jimena S Esnaola, Julia Udaquiola, Roberto L Vagni, Pablo Lobos, Juan M Moldes Larribas, Daniel H Liberto
Diaphragmatic rupture is a relatively uncommon entity in pediatrics that can occur as a result of a high-impact trauma. Only between 25 and 50% of the cases are detected in the initial evaluation of the patient, which increases the risk of complications. This paper presents the case of an asymptomatic 8-year-old patient who was referred to our institution after a vehicular accident. A day and a half after admission, a left pulmonary hypoventilation was detected. Computed tomography scan showed intrathoracic elevation of the splenic angle of the colon and the small bowel...
April 1, 2018: Archivos Argentinos de Pediatría
Marten N Basta, John E Fiadjoe, Albert S Woo, Kenneth N Peeples, Oksana A Jackson
OBJECTIVE: This study aimed to identify risk factors for adverse perioperative events (APEs) after cleft palatoplasty to develop an individualized risk assessment tool. DESIGN: Retrospective cohort. SETTING: Tertiary institutional. PATIENTS: Patients younger than 2 years with cleft palate. INTERVENTIONS: Primary Furlow palatoplasty between 2008 and 2011. MAIN OUTCOME MEASURE(S): Adverse perioperative event, defined as laryngo- or bronchospasm, accidental extubation, reintubation, obstruction, hypoxia, or unplanned intensive care unit admission...
April 2018: Cleft Palate-craniofacial Journal
Ülkü Gül Şiraz, Deniz Okdemir, Gül Direk, Leyla Akın, Nihal Hatipoğlu, Mustafa Kendırcı, Selim Kurtoğlu
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
Nuria Farré, Ramon Farré, David Gozal
Obstructive Sleep Apnea (OSA) has emerged as a highly prevalent public health problem that imposes important mid-term and long-term consequences, namely cardiovascular, metabolic, cognitive and cancer-related alterations. OSA is characterized by increased upper airway resistance, alveolar hypoventilation, and recurrent upper airway obstruction during sleep. Recurrent collapse of the upper airway develops with sleep onset, and is associated with both intermittent hypoxemia and sleep fragmentation. The microbiome is a vast and complex polymicrobial ecosystem that coexists with the human organism, and has been identified as playing significant roles in the development of host immunological phenotypes...
March 13, 2018: Chest
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
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
S Höstman, R Kawati, G Perchiazzi, A Larsson
BACKGROUND: In a previous study, we found a rebound of arterial carbon dioxide tension (PaCO2 ) after stopping THAM buffer administration. We hypothesized that this was due to reduced pulmonary CO2 elimination during THAM administration. The aim of this study was to investigate this hypothesis in an experimental porcine hypercapnic model. METHODS: In seven, initially normoventilated, anesthetized pigs (22-27 kg) minute ventilation was reduced by 66% for 7 h. Two hours after commencing hypoventilation, THAM was infused IV for 3 h in a dose targeting a pH of 7...
March 12, 2018: Acta Anaesthesiologica Scandinavica
Kitiwan Rojnueangnit, Maria Descartes
Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.
March 2018: Clinical Case Reports
Pierpaolo Baiamonte, Emilia Mazzuca, Claudia I Gruttad'Auria, Alessandra Castrogiovanni, Claudia Marino, Davide Lo Nardo, Marco Basile, Margherita Algeri, Salvatore Battaglia, Oreste Marrone, Andrea Gagliardo, Maria R Bonsignore
Continuous positive airway pressure (CPAP) is the first-choice treatment for obstructive sleep-disordered breathing. Automatic bilevel ventilation can be used to treat obstructive sleep-disordered breathing when CPAP is ineffective, but clinical experience is still limited. To assess the outcome of titration with CPAP and automatic bilevel ventilation, the charts of 356 outpatients (obstructive sleep apnea, n = 242; chronic obstructive pulmonary disease + obstructive sleep apnea overlap, n = 80; obesity hypoventilation syndrome [OHS], n = 34; 103 females) treated for obstructive sleep-disordered breathing from January 2014 to April 2017 were reviewed...
March 12, 2018: Journal of Sleep Research
Yuko Nakamura, Yoshiaki Saito, Norika Kubota, Wataru Matsumura, Chika Hosoda, Akiko Tamasaki-Kondo, Yoko Nishimura, Yoshihide Sunada, Masuyuki Fukada, Takako Ohno, Yoshihiro Maegaki, Masafumi Matsuo, Yasuko Tokita
AIM: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. SUBJECTS AND METHODS: This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed...
March 8, 2018: Brain & Development
Rolf-Arne Ølberg, Melissa Sinclair, Ian K Barker, Graham Crawshaw
The combination of fentanyl and midazolam is commonly used as a sedative in humans. The objective of this study was to evaluate the sedative properties and physiological effects of fentanyl-midazolam and fentanyl-midazolam-ketamine compared with medetomidine-ketamine given intramuscularly in Japanese macaques ( Macaca fuscata). In a randomized crossover design, eight Japanese macaques were hand-injected with either 30 μg/kg fentanyl + 0.3 mg/kg midazolam (FM), 15 μg/kg fentanyl + 0.3 mg/kg midazolam + 5.0 mg/kg ketamine (FMK), or 0...
March 2018: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Hiroyuki Honda, Naokazu Sasagasako, Chang Shen, Masahiro Shijo, Hideomi Hamasaki, Satoshi O Suzuki, Yoshio Tsuboi, Naoki Fujii, Toru Iwaki
INTRODUCTION: Perry syndrome is a rapidly progressive, autosomal dominant parkinsonism characterized by central hypoventilation, depression and severe weight loss. To date, eight DCTN1 mutations have been identified associated with Perry syndrome. A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. METHODS: A Japanese woman suffered from slowly progressing parkinsonism since age 48. At age 59, she developed central hypoventilation, and required breathing assistance...
February 23, 2018: Parkinsonism & related Disorders
Melissa A Maloney, Sheila S Kun, Thomas G Keens, Iris A Perez
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients...
February 28, 2018: Expert Review of Respiratory Medicine
Adam M Hyde, Robert G McMurray, Frank A Chavoya, Daniela A Rubin
PURPOSE: Prader-Willi syndrome (PWS) is a genetic neurobehavioral disorder presenting hypothalamic dysfunction and adiposity. At rest, PWS exhibits hypoventilation with hypercapnia. We characterized ventilatory responses in children with PWS during exercise. METHODS: Participants were children aged 7-12 years with PWS (n = 8) and without PWS with normal weight (NW; n = 9, body mass index ≤ 85th percentile) or obesity (n = 9, body mass index ≥ 95th percentile)...
February 27, 2018: Pediatric Exercise Science
Massimo Radin, Luca Bertero, Dario Roccatello, Savino Sciascia
The hypereosinophilic syndrome is a rare disease characterized by the association between high absolute eosinophil count and eosinophil-mediated organ damage. We describe a case of a 70-year-old male with an absolute eosinophil count of 2130 cells/µL. Clinical symptoms and signs included the following: severe asthenia, axonal sensitive motor neuropathy, basal pleural effusion with signs of hypoventilation on chest radiography, and gastrointestinal symptoms such as severe diarrhea, weight loss (-10 kg in 6 months), abdominal pain, and vomiting...
January 2018: Journal of Investigative Medicine High Impact Case Reports
Masami Sato, Hiroaki Yasumoto, Toshiyuki Arai
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder caused by production of anti-NMDAR antibodies that is often associated with ovarian teratoma and exhibits various manifestations including psychiatric symptoms, seizures, hypoventilation, and autonomic nerve instability. Patients with this disorder who receive early surgical tumor resection along with immunotherapy have better outcome than the rest of the patients. To establish an anesthetic plan, it is important to understand the pharmacological interaction between the anesthetic agents and the disabled NMDAR, because NMDAR is one of the major sites of action for commonly-used anesthetic agents...
2018: JA Clin Rep
Angelo Onofri, Maxime Patout, Georgios Kaltsakas, Elodie Lhuillier, Sitali Mushemi-Blake, Gill Arbane, Martino F Pengo, Philip Marino, Joerg Steier
Background: Chronic hypercapnic respiratory failure (HRF) in obesity hypoventilation syndrome (OHS) is commonly treated using non-invasive ventilation (NIV). We hypothesised that treatment of OHS would improve neural respiratory drive index (NRDI) and cardiac function. Methods: Fourteen patients (8 females) with OHS, who were admitted for initiation of domiciliary NIV, were prospectively studied. Patients had (mean ± SD): age (53±10 years), body mass index (BMI) (50...
January 2018: Journal of Thoracic Disease
Smita Vimala, Biswas Soniya, Baskar Nisha
No abstract text is available yet for this article.
February 9, 2018: Journal of Neurosurgical Anesthesiology
Sebastian Fritsch, Johannes Bickenbach
The term "respiratory insufficiency" (RI) describes the inability of an organism to maintain the gas exchange between the ambient air and its peripheral organs. This causes a hypoxia and hypercapnia. The mechanisms that lead to RI are either an impaired gas exchange in the lung tissue or an alveolar hypoventilation caused by an insufficient ventilatory pump. Thus the RI is divided into a hypoxic or a hypercapnic RI. The diagnostic procedure for RI contains several examinations. One key aspect of the exploration is the identification of potential reversible and thus correctable reasons of the RI...
February 2018: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
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