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https://www.readbyqxmd.com/read/29339545/perioperative-implementation-of-noninvasive-positive-airway-pressure-therapies
#1
REVIEW
David R Hillman, Carla R Jungquist, Dennis Auckley
Noninvasively applied positive airway pressure therapy (PAP) is available in 3 basic modes: continuous positive airway pressure (CPAP), bi-level positive airway pressure (BPAP), and adaptive servo-ventilation. These are in widespread use in home and hospital settings to treat a variety of disorders of ventilation or gas exchange, including obstructive sleep apnea, sleep-related hypoventilation, periodic breathing, acute and chronic hypercapnic respiratory failure, and acute respiratory failure. They are increasingly being used perioperatively to prevent or treat upper airway obstruction, hypoventilation, and periodic breathing, and they have been found to improve postoperative outcomes in the case of obstructive sleep apnea...
January 16, 2018: Respiratory Care
https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#2
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Douglas R Nordli Jr, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29327497/congenital-central-hypoventilation-syndrome-broader-cognitive-deficits-revealed-by-parent-controls
#3
Frank A Zelko, Tracey M Stewart, Cindy D Brogadir, Casey M Rand, Debra E Weese-Mayer
OBJECTIVE: To investigate neurocognitive deficits in children with Congenital Central Hypoventilation Syndrome (CCHS) by comparing them to their parents, since parents comprise a particularly suitable control group matched on disease-extrinsic factors that can influence neurocognitive functioning. We compared CCHS patients to their parents and to population norms, hypothesizing that they would obtain lower intelligence test scores than both groups. We also compared patient-parent differences against patient-normative differences, to determine whether the two analytic approaches would yield different results...
January 12, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#4
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29319015/a-practical-technique-in-laparoscopic-diaphragm-pacing-surgery-retrospective-analyse-of-43-patients
#5
Volkan Karacam, Aydin Sanli, Kemal Can Tertemiz, Ilknur Ulugun
INTRODUCTION: Diaphragm pacing stimulation (DPS) is a treatment method used in respiratory failure occurs in diseases such as high-level cervical spinal cord injury, central hypoventilation syndrome and amyotrophic lateral sclerosis. MATERIALS AND METHODS: A total of 43 patients, who had undergone DPS implantation surgery were evaluated retrospectively. The patients were divided into two groups according to the surgical technique (Group 1: classical surgical technic and Group 2: modified surgical technic) applied...
January 10, 2018: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/29306907/new-aspects-in-the-pathomechanism-of-diseases-of-civilization-particularly-psychosomatic-disorders-part-2-chronic-hypocapnia-and-hypercapnia-in-the-medical-practice
#6
Andras Sikter, Zoltan Rihmer, Roberto de Guevara
The authors seek to find new connections between recent results of biology and older theories. This paper aims to assemble the jigsaw puzzle. The theoretical background of the hypothesis was described in the previous issue of the journal (Sikter et al. 2017a). Human stress response often coexists with persistent hypocapnia or hypercapnia - developing via psychosomatic pathomechanism - which can lead to mental and psychosomatic illnesses. Chronic hypocapnia mainly generates hyperarousal disorders which may be reversible for an extended time, however, vicious cycles may start when hypoxia and/or severe somatic diseases are simultaneously present (commonly in the elderly), which conditions often end with death without medical help...
September 2017: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/29286936/haddad-syndrome-novel-association-with-braf-mutation
#7
Suleiman Al Dakhoul
This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This describes a novel association between these mutations and the shared qualities of tumorigenesis between BRAF and PHOX2B...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29285942/-non-alcoholic-fatty-liver-disease-as-a-component-of-the-metabolic-syndrome-and-its-causal-correlations-with-other-extrahepatic-diseases
#8
Tamás Halmos, Ilona Suba
Non-alcoholic fatty liver disease is the most common non-infectious chronic liver-disease in our age, and is a spectrum of all the diseases associated with increased fat accumulation in the hepatocytes. Its development is promoted by sedentary life-style, over-feeding, and certain genetic predisposition. Prevalence in the adult population, even in Hungary is ~30%. In a part of cases, this disease may pass into non-alcoholic steatohepatitis, later into fibrosis, rarely into primary hepatocellular cancer. Fatty liver is closely and bidirectionally related to the metabolic syndrome and type 2 diabetes, and nowadays there is a general consensus that fatty liver is the hepatic manifestation of the metabolic sycndrome...
December 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29279787/acute-chest-syndrome-in-children-with-sickle-cell-disease
#9
REVIEW
Shilpa Jain, Nitya Bakshi, Lakshmanan Krishnamurti
Acute chest syndrome (ACS) is a frequent cause of acute lung disease in children with sickle cell disease (SCD). Patients may present with ACS or may develop this complication during the course of a hospitalization for acute vaso-occlusive crises (VOC). ACS is associated with prolonged hospitalization, increased risk of respiratory failure, and the potential for developing chronic lung disease. ACS in SCD is defined as the presence of fever and/or new respiratory symptoms accompanied by the presence of a new pulmonary infiltrate on chest X-ray...
December 1, 2017: Pediatric Allergy, Immunology, and Pulmonology
https://www.readbyqxmd.com/read/29275617/-treatment-of-patients-with-different-degree-of-acute-respiratory-distress-syndrome-caused-by-inhalation-of-white-smoke
#10
F W Yang, H M Xin, J H Zhu, X Y Feng, X C Jiang, Z Y Gong, Y L Tong
Objective: To summarize the treatment experience of patients with different degree of acute respiratory distress syndrome (ARDS) caused by inhalation of white smoke from burning smoke bomb. Methods: A batch of 13 patients with different degree of ARDS caused by inhalation of white smoke from burning smoke bomb, including 2 patients complicated by pulmonary fibrosis at the late stage, were admitted to our unit in February 2016. Patients were divided into mild (9 cases), moderate (2 cases), and serious (2 cases) degree according to the ARDS Berlin diagnostic criteria...
December 20, 2017: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/29273399/behavioral-defects-in-a-dctn1g71a-transgenic-mouse-model-of-perry-syndrome
#11
Takayasu Mishima, Manami Deshimaru, Takuya Watanabe, Kaori Kubota, Mariko Kinoshita-Kawada, Junichi Yuasa-Kawada, Kotaro Takasaki, Yoshinari Uehara, Shozo Jinno, Katsunori Iwasaki, Yoshio Tsuboi
Perry syndrome is a rare neurodegenerative disease characterized by parkinsonism, depression/apathy, weight loss, and central hypoventilation. Our previously-conducted genome-wide association scan and subsequent studies identified nine mutations in DCTN1, the largest protein subunit of the dynactin complex, in patients with Perry syndrome. These included G71A in the microtubule-binding cytoskeleton-associated protein Gly-rich domain of p150Glued. The dynactin complex is essential for function of the microtubule-based cytoplasmic retrograde motor dynein...
December 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29249648/congenital-central-hypoventilation-syndrome-an-overview-of-etiopathogenesis-associated-pathologies-clinical-presentation-and-management
#12
REVIEW
Saher Zaidi, Jason Gandhi, Sohrab Vatsia, Noel L Smith, Sardar Ali Khan
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla. CCHS correlates to the malformation of the neural crest located in the brainstem; this consequently affects the loss of sensitivity of CO2 chemoreceptors, bringing about hypoventilation during sleep. The primary cause of CCHS is the mutation of the paired-like homeobox PHO2XB gene, found in 90% of the patients...
November 13, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29249055/brain-magnetic-resonance-imaging-findings-of-anti-n-methyl-d-aspartate-receptor-encephalitis-a-cohort-follow-up-study-in-chinese-patients
#13
Rui Wang, Xiao-Hui Lai, Xu Liu, Yu-Jia Li, Chu Chen, Chen Li, Xiao-Sa Chi, Dong Zhou, Zhen Hong
The aim of this report was to assess routine clinical brain magnetic resonance imaging (MRI) and its relation to clinical characteristics and disease prognosis. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis patients were consecutively recruited from West China Hospital between October 1, 2011 and April 1, 2016. Brain MRI findings of 106 patients were analysed, and outcomes were assessed at 4, 8, and 12 months after discharge from the hospital using the modified Rankin scale (mRS). An MRI of the brain was normal in 52/106 (49...
December 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29235540/characteristic-dysmorphic-features-in-congenital-disorders-of-glycosylation-type-iib
#14
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
December 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29229100/sleep-related-respiratory-events-during-non-invasive-ventilation-of-patients-with-chronic-hypoventilation
#15
Sigurd Aarrestad, Magnus Qvarfort, Anne Louise Kleiven, Elin Tollefsen, Ole Henning Skjønsberg, Jean-Paul Janssens
BACKGROUND: Non-invasive ventilation (NIV) is increasingly used in the treatment of patients with chronic hypercapnic respiratory failure (CRF). Residual sleep related respiratory events under NIV such as obstructive or central apnea/hypopnea (AH), or patient-ventilator asynchrony (PVA), may compromise treatment efficacy and/or comfort. AIMS OF STUDY: 1/to quantify the frequency and describe the types of both AH and PVA in a large group of stable patients with CRF during night-time NIV; 2/to analyze the influence of these events on overnight pulse oximetry and transcutaneous CO2 and 3/to assess interrater agreement in identifying and quantifying AH and PVA...
November 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29227046/prevalence-of-comorbidities-in-patients-with-obstructive-sleep-apnoea-syndrome-overlap-syndrome-obesity-hypoventilation-syndrome
#16
Donato Lacedonia, Giovanna Elisiana Carpagnano, Giulia Patricelli, Mauro Carone, Crescenzio Gallo, Incoronata Caccavo, Roberto Sabato, Annarita Depalo, Maria Aliani, Alberto Capozzolo, Maria Pia Foschino Barbaro
INTRODUCTION: Sleep-disordered breathing causes a burden to the sufferer, the healthcare system, and the society. Most studies have focused on Obstructive Sleep Apnea (OSA), however, the prevalence of comorbidities in patients affected by Overlap Syndrome (OS) and Obesity Hypoventilation Syndrome (OHS) has not been carefully evaluated. STUDY OBJECTIVES: The principal aim of this study was to identify the presence of comorbidities in patients suffering from OSA, OS, OHS and the differences in three groups of patients...
December 11, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/29210305/detection-of-early-nocturnal-hypoventilation-in-neuromuscular-disorders
#17
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Hui-Leng Tan, Annalisa Carlucci, Giacomo Brisca, Paola Tacchetti, Claudio Bruno, Carlo Minetti
Objective Nocturnal hypoventilation (NH) is a complication of respiratory involvement in neuromuscular disorders (NMD) that can evolve into symptomatic daytime hypercapnia if not treated proactively with non-invasive ventilation. This study aimed to assess whether NH can be detected in the absence of other signs of nocturnal altered gas exchange. Methods We performed nocturnal transcutaneous coupled (tc) pCO2/SpO2 monitoring in 46 consecutive cases of paediatric-onset NMD with a restrictive respiratory defect (forced vital capacity < 60%)...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29208758/respiratory-volume-monitoring-reduces-hypoventilation-and-apnea-in-subjects-undergoing-procedural-sedation
#18
Robert H Nichols, Justin A Blinn, Thuan M Ho, Robert A McQuitty, Michael P Kinsky
INTRODUCTION: The use of monitored anesthesia care for endoscopic procedures increases the risk of respiratory depression, necessitating careful monitoring of patient ventilation. We examined the effectiveness of an impedance-based respiratory volume monitor (RVM) in improving the safety of patients undergoing upper and lower gastrointestinal endoscopies under total intravenous anesthesia. We hypothesized that feedback from the RVM would allow anesthesiologists to maintain adequate ventilation, which would reduce the duration of respiratory depression (ie, hypoventilation and apnea) compared to a blinded control group...
December 5, 2017: Respiratory Care
https://www.readbyqxmd.com/read/29208583/challenging-anaesthetic-management-of-captive-reindeer-rangifer-tarandus-report-of-4-cases
#19
P Monticelli, A McSloy, U Morath, C Adami
Four captive reindeer underwent anaesthesia to allow dehorning or drainage of lymph nodes abscessation. Premedication was based on xylazine (dose range: 0.075- 0.5 mg/kg, IM or IV), with or without ketamine (dose range: 1-2 mg/kg, IM or IV), all of which failed to produce effective sedation without side effects. During anaesthesia, 2 reindeer experienced severe hypoxaemia and hypoventilation. Recovery was smooth in 3 out 4 animals, but delayed in one reindeer sedated with 0.5 mg/kg of xylazine IV; this patient required repeated atipamezole administrations (0...
December 2017: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/29199768/invasive-versus-non-invasive-ventilation-for-acute-respiratory-failure-in-neuromuscular-disease-and-chest-wall-disorders
#20
REVIEW
Fang Luo, Djillali Annane, David Orlikowski, Li He, Mi Yang, Muke Zhou, Guan J Liu
BACKGROUND: Acute respiratory failure is a common life-threatening complication of acute onset neuromuscular diseases, and may exacerbate chronic hypoventilation in patients with neuromuscular disease or chest wall disorders. Standard management includes oxygen supplementation, physiotherapy, cough assistance, and, whenever needed, antibiotics and intermittent positive pressure ventilation. Non-invasive mechanical ventilation (NIV) via nasal, buccal or full-face devices has become routine practice in many centres...
December 4, 2017: Cochrane Database of Systematic Reviews
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