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Diaphragmatic atrophy

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https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#1
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29727418/good-sounding-the-use-of-ultrasound-to-assess-diaphragmatic-atrophy
#2
Douglas F Willson
No abstract text is available yet for this article.
May 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29653221/an-atypical-phenotype-of-a-patient-with-infantile-spinal-muscular-atrophy-with-respiratory-distress-type-1-smard-1
#3
Shuiyan Wu, Ting Chen, Ying Li, Linqi Chen, Qiuqin Xu, Fei Xiao, Zhenjiang Bai
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.2: c.688C > G; p.(Gln230Glu)) and (NM_002180.2: c.1737C > A; p.(Phe579Leu)), one of which (c.688C > G; ClinVar accession: SUB3344743: SCV000612189) is novel...
April 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29508056/inspiratory-muscle-weakness-diaphragm-immobility-and-diaphragm-atrophy-after-neck-dissection
#4
Anne Flavia Silva Galindo Santana, Pedro Caruso, Pauliane Vieira Santana, Gislaine Cristina Lopes Machado Porto, Luiz Paulo Kowalski, Jose Guilherme Vartanian
BACKGROUND: Inspiratory strength after a neck dissection has not been evaluated, and diaphragm function has not been adequately evaluated. OBJECTIVE: Evaluate diaphragm mobility and inspiratory strength after neck dissection. METHODS: Prospective data collection of a consecutive series of adult patients submitted to neck dissection for head and neck cancer treatment, in a tertiary referral cancer center, from January to September 2014, with 30 days of follow-up...
May 2018: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29456636/expression-of-diaphragmatic-myostatin-and-correlation-with-apoptosis-in-rats-with-chronic-obstructive-pulmonary-disease
#5
Xu Zhou, Daijiao Yi, Yanhong Wu, Xinghua Pei, Haiming Yu, Yanhong Chen, Yu Jiang, Wenpu Li
Chronic obstructive pulmonary disease (COPD) is characterized by progressive airflow limitation and loss of lung function. The present study aimed to investigate the diaphragmatic protein expression of myostatin and its correlation with apoptosis in a rat model of CPOD. Sprague Dawley rats were randomly divided into a control group and a COPD group, the latter of which were exposed to cigarette smoke to build a rat model of COPD. The validity of the COPD model was evaluated by assessment of lung function and histopathological analysis...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29402358/-effect-of-early-mobilization-on-diaphragmatic-function-in-patients-with-mechanical-ventilation-a-prospective-randomized-controlled-study
#6
Shengqiang Yang, Jinggang Liu, Wenbao Yang, Jiyin Yuan, Suqiu Meng, Maoling Liang, Qibiao Shi
OBJECTIVE: To investigate the effect of early mobilization on diaphragmatic function in patients with mechanical ventilation (MV). METHODS: Sixty chronic obstructive pulmonary disease with acute exacerbation (AECOPD) patients with respiratory failure (RF) and underwent MV admitted to intensive care unit (ICU) of Huxi Affiliated Hospital of Jining Medical College from January 2016 to January 2017 were enrolled. The patients were divided into treatment group (n = 30) and control group (n = 30) by randomly number table method...
February 2018: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/29376467/diaphragmatic-dysfunction-in-sepsis-due-to-severe-acute-pancreatitis-complicated-by-intra-abdominal-hypertension
#7
Wei-Chao Liao, Yan-Hong Chen, Hang-Yang Li, Ting-Ting Wang, Peng Lan, Kong-Han Pan, Hui-Qing Ge, Qiang-Min Xie, Jian-Cang Zhou
Objective This study aimed to examine the mechanism of diaphragmatic dysfunction in sepsis due to severe acute pancreatitis (SAP) with intra-abdominal hypertension (IAH) in a rat model. Methods The rats were assigned at random to four groups: (1) control (n = 5), (2) SAP (n = 5), (3) SAP+IAH (n = 5), and (4) SAP+IAH+SS-31 (n = 5). Length and force output of the diaphragm were analysed in vivo. Histopathological examinations were performed by haematoxylin-eosin. Oxidative stress levels related to protease in diaphragmatic mitochondria were detected with a colorimetric technique...
April 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29346133/dexmedetomidine-impairs-diaphragm-function-and-increases-oxidative-stress-but-does-not-aggravate-diaphragmatic-atrophy-in-mechanically-ventilated-rats
#8
Thomas Breuer, Christian Bleilevens, Rolf Rossaint, Gernot Marx, Julian Gehrenkemper, Henning Dierksen, Antoine Delpierre, Joachim Weis, Ghislaine Gayan-Ramirez, Christian S Bruells
BACKGROUND: Anesthetics in ventilated patients are critical as any cofactor hampering diaphragmatic function may have a negative impact on the weaning progress and therefore on patients' mortality. Dexmedetomidine may display antioxidant and antiproteolytic properties, but it also reduced glucose uptake by the muscle, which may impair diaphragm force production. This study tested the hypothesis that dexmedetomidine could inhibit ventilator-induced diaphragmatic dysfunction. METHODS: Twenty-four rats were separated into three groups (n = 8/group)...
April 2018: Anesthesiology
https://www.readbyqxmd.com/read/29126611/diaphragmatic-thickness-ratio-inspiratory-expiratory-as-a-diagnostic-method-of-diaphragmatic-palsy-associated-with-interescalene-block
#9
V M López Escárraga, K Dubos España, R H Castillo Bustos, L Peidró, S Sastre, X Sala-Blanch
INTRODUCTION: Diaphragmatic paralysis is a side-effect associated with interscalene block. Thickness index of the diaphragm muscle (inspiratory thickness/expiratory thickness) obtained by ultrasound has recently been introduced in clinical practice for diagnosis of diaphragm muscle atrophy. Our objective was to evaluate this index for the diagnosis of acute phrenic paresis associated with interscalene block. PATIENTS AND METHODS: We designed an observational study in 22 patients scheduled for shoulder arthroscopy...
February 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29030793/right-sided-bochdalek-hernia-in-an-elderly-adult-a-case-report-with-a-review-of-surgical-management
#10
Kazuki Moro, Mikako Kawahara, Yusuke Muneoka, Yu Sato, Chie Kitami, Shigeto Makino, Atsushi Nishimura, Yasuyuki Kawachi, Emmanuel Gabriel, Keiya Nikkuni
BACKGROUND: Bochdalek hernias are one of the most common types of diaphragmatic hernia, with most cases diagnosed during the neonatal period. In contrast, diagnosis of a Bochdalek hernia in an adult is rare and is typically observed on the left side of the diaphragm. Even more rare is the diagnosis of a right-sided Bochdalek hernia in an adult, where there is concurrent visceral malformation in most cases. CASE PRESENTATION: We describe a case of an 89-year-old female who presented with abdominal pain...
October 13, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28899595/peripheral-nerve-pathology-at-fixed-stage-in-spinal-muscular-atrophy-with-respiratory-distress-type-1
#11
Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, Mio Tanaka, Yukichi Tanaka, Akihiro Hashiguchi, Hiroshi Takashima, Tomohide Goto
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy. After an initial decline in respiratory state and motor function until 1-2years of age, residual capabilities reach a plateau. We report the peripheral neuropathological findings of a patient with SMARD1 at 1year and 1month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months...
February 2018: Brain & Development
https://www.readbyqxmd.com/read/28829819/evaluation-of-diaphragmatic-function-in-mechanically-ventilated-children-an-ultrasound-study
#12
En-Pei Lee, Shao-Hsuan Hsia, Hsiu-Feng Hsiao, Min-Chi Chen, Jainn-Jim Lin, Oi-Wa Chan, Chia-Ying Lin, Mei-Chin Yang, Sui-Ling Liao, Shen-Hao Lai
BACKGROUND: The recovery of diaphragmatic function is vital for successful extubation from mechanical ventilation. Recent studies have detected diaphragm atrophy in ventilated adults by using ultrasound, but no similar report has been conducted in children. In the current study, we hypothesized that mechanically ventilated children may also develop diaphragm atrophy and diaphragmatic dysfunction. MATERIALS AND METHODS: Children who were admitted to the pediatric intensive care unit and were newly intubated for mechanical ventilation were enrolled into this prospective case-control study...
2017: PloS One
https://www.readbyqxmd.com/read/28764141/morphological-study-of-human-liver-and-its-surgical-importance
#13
Heena J Chaudhari, Minal K Ravat, Vasant H Vaniya, Amul N Bhedi
INTRODUCTION: Liver is the largest abdominal organ located in right hypochondrium, epigastrium and left hypochondrium in upper abdominal cavity. Although the segmental anatomy of the liver has been extensively researched, very few studies have dealt with surface variations of the liver. The major fissures are important landmarks for interpreting the lobar anatomy and locating the liver lesions. AIM: To determine gross anatomical variations of liver and their clinical and surgical implications...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28725427/progressive-hypoventilation-due-to-mixed-cd8-and-cd4-lymphocytic-polymyositis-following-tremelimumab-durvalumab-treatment
#14
Sooraj John, Scott J Antonia, Trevor A Rose, Robert P Seifert, Barbara A Centeno, Aaron S Wagner, Ben C Creelan
BACKGROUND: The combination of CTLA-4 and PD-L1 inhibitors has a manageable adverse effect profile, although rare immune-related adverse events (irAE) can occur. CASE PRESENTATION: We describe an autoimmune polymyositis following a partial response to combination tremelimumab and durvalumab for the treatment of recurrent lung adenocarcinoma. Radiography revealed significant reduction in all metastases; however, the patient developed progressive neuromuscular hypoventilation due to lymphocytic destruction of the diaphragmatic musculature...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28716137/progressive-hypoventilation-due-to-mixed-cd8-and-cd4-lymphocytic-polymyositis-following-tremelimumab-durvalumab-treatment
#15
Sooraj John, Scott J Antonia, Trevor A Rose, Robert P Seifert, Barbara A Centeno, Aaron S Wagner, Ben C Creelan
BACKGROUND: The combination of CTLA-4 and PD-L1 inhibitors has a manageable adverse effect profile, although rare immune-related adverse events (irAE) can occur. CASE PRESENTATION: We describe an autoimmune polymyositis following a partial response to combination tremelimumab and durvalumab for the treatment of recurrent lung adenocarcinoma. Radiography revealed significant reduction in all metastases; however, the patient developed progressive neuromuscular hypoventilation due to lymphocytic destruction of the diaphragmatic musculature...
July 18, 2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28698263/ventilator-induced-diaphragmatic-dysfunction-diagnosis-and-role-of-pharmacological-agents
#16
REVIEW
Won-Young Kim, Chae-Man Lim
The use of controlled mechanical ventilation results in a major reduction of diaphragmatic contractile force together with atrophy of diaphragm muscle fibers, which is a condition known as ventilator-induced diaphragmatic dysfunction. Ventilator-induced diaphragmatic dysfunction is one of the major contributors to weaning difficulties and even increased mortality. This review summarizes the current data on the pathogenesis and diagnosis of ventilator-induced diaphragmatic dysfunction, and it outlines the use of ultrasonography for diaphragm evaluation...
November 2017: Respiratory Care
https://www.readbyqxmd.com/read/28690873/spinal-cord-infarction-in-a-sick-neonate-from-predominant-haemorrhagic-aetiology-a-case-report
#17
Richa Kulshrestha, Joy R Chowdhury, Radhesh K Lalam, Nigel T Kiely
INTRODUCTION: Spinal cord injuries in new born infants following a traumatic delivery or umbilical cord catheterisation due to thromboembolism are well known. Cases with atraumatic acute onset of neonatal paraplegia have also been described in preterm babies or babies born small for gestational age with a stormy postnatal course related to ischaemic aetiology. We describe a rare case of infarction of the spinal cord from a predominant haemorrhagic aetiology. CASE PRESENTATION: A term female baby, first child of unrelated parents, was born by normal vaginal delivery...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28569270/heart-failure-hf-induced-diaphragmatic-atrophy-and-weakness
#18
Karina Huynh
No abstract text is available yet for this article.
July 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28549021/crus-atrophy-accuracy-of-computed-tomography-in-diagnosis-of-diaphragmatic-paralysis
#19
Warawut Sukkasem, Sherine G Moftah, Gregory Kicska, J David Godwin, Sudhakar Pipavath, Eric Stern
PURPOSE: The aim of this study was to measure the association between crus atrophy as depicted by computed tomography (CT) and fluoroscopic diagnosis of hemidiaphragmatic paralysis in patients with suspected diaphragmatic dysfunction. MATERIALS AND METHODS: A retrospective review of patient data was approved by our institutional review board and was HIPPA-compliant. We reviewed 90 patients who had undergone diaphragmatic fluoroscopy; 72 had CT scans available for measurement of crus thickness at the levels of the celiac and superior mesenteric arteries and the L1 vertebral body...
November 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#20
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
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