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https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#1
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28330778/intratracheal-lps-administration-attenuates-the-acute-hypoxic-ventilatory-response-role-of-brainstem-il-1%C3%AE-receptors
#2
A P Ribeiro, C A Mayer, C G Wilson, R J Martin, P M MacFarlane
Perinatal inflammation and infection are commonly associated with various respiratory morbidities in preterm infants including apnea of prematurity. In this study, we investigated whether pulmonary inflammation via intra-tracheal micro-injection of lipopolysaccharide (LPS) into neonatal rats modifies respiratory neural control via an IL-1β receptor-dependent mechanism. Prior to an intra-tracheal micro-injection of LPS (1mg/kg), 10day old (Postnatal age, P10) rats received an intraperitoneal (i.p.) or intracisternal (i...
March 19, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28328860/ventilation-during-cardiopulmonary-bypass-for-prevention-of-respiratory-insufficiency-a-meta-analysis-of-randomized-controlled-trials
#3
Dongmei Chi, Chan Chen, Yu Shi, Wanyu Wang, Ye Ma, Ronghua Zhou, Hai Yu, Bin Liu
BACKGROUND: Cardiopulmonary bypass (CPB) is necessary for most cardiac surgery, which may lead to postoperative lung injury. The objective of this paper is to systematically evaluate whether ventilation during CPB would benefit patients undergoing cardiac surgery. METHODS: We searched randomized controlled trials (RCTs) through PubMed, Embase, and Cochrane Library from inception to October 2016. Eligible studies compared clinical outcomes of ventilation versus nonventilation during CPB in patients undergoing cardiac surgery...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28325721/carcinosarcoma-of-the-bladder-following-local-schistosomiasis-infection
#4
Victor Srougi, Fabio P Gallucci, Romulo L Mattedi, Miguel Srougi
A young patient from central Africa presented acute renal insufficiency due to extrinsic compression of the distal ureters by a pelvic mass. After initial medical management, a biopsy revealed poorly differentiated bladder cancer and Schistosoma haematobium eggs embedded in the bladder wall. The initial workup showed evidence of locoregional disease. Radical cystectomy with an incontinent urinary diversion was performed with no complications. Carcinosarcoma of the bladder was diagnosed by pathological analysis of the surgical specimen...
March 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28321190/skeletal-dysplasias-growing-therapy-for-growing-bones
#5
REVIEW
Angie C Jelin, Elizabeth O'Hare, Karin Blakemore, Eric B Jelin, David Valle, Julie Hoover-Fong
Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28320861/recycling-of-iron-via-autophagy-is-critical-for-the-transition-from-glycolytic-to-respiratory-growth
#6
Tetsuro Horie, Tomoko Kawamata, Miou Matsunami, Yoshinori Ohsumi
Autophagy is a bulk degradation process conserved from yeast to mammals. To examine the roles of autophagy in cellular metabolism, we generated autophagy-defective (atg) mutants in the X2180-1B strain background. We compared the growth of wild type (WT) and atg cells in minimal (synthetic dextrose, SD) and rich (yeast extract-peptone-dextrose, YEPD) medium, and found that mutations in the core autophagy machinery results in defects in the diauxic shift, the transition from fermentation to respiratory growth upon glucose depletion, specifically in SD...
March 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28314746/protocol-for-a-cluster-randomised-stepped-wedge-trial-assessing-the-impact-of-a-community-level-hygiene-intervention-and-a-water-intervention-using-riverbank-filtration-technology-on-diarrhoeal-prevalence-in-india
#7
Sarah L McGuinness, Joanne E O'Toole, Thomas B Boving, Andrew B Forbes, Martha Sinclair, Sumit K Gautam, Karin Leder
INTRODUCTION: Diarrhoea is a leading cause of death globally, mostly occurring as a result of insufficient or unsafe water supplies, inadequate sanitation and poor hygiene. Our study aims to investigate the impact of a community-level hygiene education program and a water quality intervention using riverbank filtration (RBF) technology on diarrhoeal prevalence. METHODS AND ANALYSIS: We have designed a stepped wedge cluster randomised trial to estimate the health impacts of our intervention in 4 rural villages in Karnataka, India...
March 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28301887/geburtshilfe-die-peripartale-kardiomyopathie
#8
Manuel Lingner, Jürgen Majolk, Oliver Niederer
The peripartum cardiomyopathy (PPCM) is an idiopathic heart failure secondary to left-ventricular dysfunction occuring at the end of pregnancy or in the months after delivery. Other causes for heart failure must not exist. The current state of knowledge about PPCM, based on a mini-literature-review, will be presented. We will focus on peripartal anaesthesiologic management and the case of a patient with respiratory insufficiency and lung edema secondary to PPCM.
March 2017: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
https://www.readbyqxmd.com/read/28298842/preoperative-parameters-and-their-prognostic-value-in-amyotrophic-lateral-sclerosis-patients-undergoing-implantation-of-a-diaphragm-pacing-stimulation-system
#9
Aydın Şanlı, Ihsan Şükrü Şengün, Volkan Karaçam, Aylin Özgen Alpaydın, Kemal Can Tertemiz, Sevgi Özalevli, Bahar Ağaoğlu Şanlı, Alper Kaya, Nezih Özdemir
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease with devastating and fatal respiratory complications. Diaphragm pacing stimulation (DPS) is a treatment option in diaphragm insufficient ALS patients. Ventilatory insufficiency depending on diaphragmatic failure is treated by the present study aimed to investigate prognostic value of preoperative clinical and functional characteristics of ALS patients undergoing implantation of a DPS system and to determine appropriate indications for the DPS system...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28293933/unmet-primary-physicians-needs-for-allergic-rhinitis-care-in-korea
#10
Hyeon Jong Yang, Young Hyo Kim, Bora Lee, Do Youn Kong, Dong Kyu Kim, Mi Ae Kim, Bong Seong Kim, Won Young Kim, Jeong Hee Kim, Yang Park, So Yeon Park, Woo Yong Bae, Keejae Song, Min Suk Yang, Sang Min Lee, Young Mok Lee, Hyun Jong Lee, Jae Hong Cho, Hye Mi Jee, Jeong Hee Choi, Young Yoo, Young Il Koh
Allergic rhinitis (AR) is one of the most common chronic allergic respiratory diseases worldwide. Various practical guidelines for AR have been developed and updated to improve the care of AR patients; however, up to 40% patients remain symptomatic. The unmet need for AR care is one of the greatest public health problems in the world. The gaps between guideline and real-world practice, and differences according to the region, culture, and medical environments may be the causes of unmet needs for AR care. Because there is no evidence-based AR practical guideline reflecting the Korean particularity, various needs are increasing...
May 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28289480/ultrasound-elastography-for-determination-of-the-age-of-venous-thrombi-evaluation-of-thrombus-evolution-in-patients-after-sclerotherapy
#11
Łukasz Paluch, Ewa Nawrocka-Laskus, Agnieszka Dąbrowska, Tadeusz Popiela, Jerzy Walecki
BACKGROUND: Venous thrombosis is a multicausal disease involving intravenous clot formation. It may occur spontaneously or after provoking events, such as traumatic injuries to the pelvis, upper and lower extermities, immobilization, intravascular procedures, including venous catheterization or injection. Color Doppler ultrasonography is a rapid and non-invasive technique for evaluation of venous disease. It is a very sensitive method for detection of thrombi, but has some limitations, e...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28288521/young-onset-rapidly-progressive-als-associated-with-heterozygous-fus-mutation
#12
Marta Gromicho, Miguel Oliveira Santos, Anabela Pinto, Ana Pronto-Laborinho, Mamede De Carvalho
We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity...
March 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28280980/emergencies-in-motoneuron-disease
#13
REVIEW
Josef Finsterer, Claudia Stöllberger
Genetic and acquired motor-neuron-disorders (MNDs) may undergo acute deterioration resulting in various emergency situations. This literature review aims at summarising and discussing current knowledge about emergencies in MNDs. Emergencies that have been reported in MND patients include: respiratory, bulbar, cardiac, septic, epileptic, psychiatric, pain-related, and traumatic emergencies. Emergencies due to respiratory insufficiency have the strongest impact on morbidity and mortality in MNDs. To optimise the management of emergencies in MNDs, it is recommended to discuss these topics with the patient prior to their occurrence...
March 9, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28276182/application-of-the-national-early-warning-score-news-as-a-stratification-tool-on-admission-in-an-italian-acute-medical-ward-a-perspective-study
#14
Walter Spagnolli, Marta Rigoni, Emanuele Torri, Susanna Cozzio, Elisa Vettorato, Giandomenico Nollo
AIM: We aimed to assess the performance of the National Early Warning Score (NEWS) as tool for patient risk stratification at admission in an acute Internal Medicine ward and to ensure patient placement in ward areas with the required and most appropriate intensity of care. As secondary objective, we considered NEWS performance in two subgroups of patients: sudden cardiac events (acute coronary syndromes and arrhythmic events), and chronic respiratory insufficiency. METHODS: We conducted a perspective cohort single centre study on 2,677 unselected patients consecutively admitted from July 2013 to March 2015 in the Internal Medicine ward of the hospital of Trento, Italy...
March 9, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28274533/validation-of-the-japanese-severe-respiratory-insufficiency-questionnaire-in-hypercapnic-patients-with-noninvasive-ventilation
#15
Toru Oga, Hiroyuki Taniguchi, Hideo Kita, Tomomasa Tsuboi, Keisuke Tomii, Morihide Ando, Eiji Kojima, Hiromi Tomioka, Yoshio Taguchi, Yusuke Kaji, Ryoji Maekura, Toru Hiraga, Naoki Sakai, Tomoki Kimura, Michiaki Mishima, Wolfram Windisch, Kazuo Chin
BACKGROUND: The Severe Respiratory Insufficiency (SRI) Questionnaire was originally developed in German to assess health-related quality of life (HRQL) and was validated as a multidimensional instrument with high psychometric properties in chronic hypercapnic respiratory failure (CHRF) patients receiving noninvasive ventilation (NIV). We aimed to investigate the intercultural adaptation of the Japanese SRI Questionnaire and whether it is a reliable and valid HRQL questionnaire to administer to those patients...
March 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/28269790/cardiac-involvement-classification-and-therapeutic-management-in-patients-with-duchenne-muscular-dystrophy
#16
Abdallah Fayssoil, Soumeth Abasse, Katy Silverston
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269224/importance-of-metabolism-variations-in-a-model-of-extracorporeal-carbon-dioxide-removal
#17
S Habran, T Desaive, Ph Morimont, B Lambermont, P C Dauby
Extracorporeal CO2 Removal device is used in clinics when a patient suffers from a pulmonary insufficiency like Acute Respiratory Distress Syndrome and allows to decarboxylate blood externally. In this work, a model of the respiratory system coupled with such a device is proposed to analyze the decrease of CO2 partial pressure in blood. To validate the model, some parameters are estimated thanks to experimental data. Metabolism is a crucial parameter and we show that its time evolution must be taken into account in order to have correct CO2 partial pressure simulations in arteries and in veins...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28268418/robust-estimation-of-respiratory-rate-via-ecg-and-ppg-derived-respiratory-quality-indices
#18
Drew A Birrenkott, Marco A F Pimentel, Peter J Watkinson, David A Clifton
Respiratory rate (RR) is one of the most informative indicators of a patient's health status. However, automated, non-invasive measurements of RR are insufficiently robust for use in clinical practice. A number of methods have been described in the literature to estimate RR from both photo-plethysmography (PPG) and electrocardiography (ECG) based on three physiological modulations of respiration: amplitude modulation (AM), frequency modulation (FM), and baseline wander (BW). However, the quality of the respiratory information acquired is highly patient-dependent and often too noisy to be used...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28267443/balloon-removal-after-fetoscopic-endoluminal-tracheal-occlusion-for-congenital-diaphragmatic-hernia
#19
Julio A Jiménez, Elisenda Eixarch, Philip Dekoninck, João R Bennini, Roland Devlieger, Cleisson F Peralta, Eduard Gratacos, Jan Deprest
BACKGROUND: Isolated congenital diaphragmatic hernia (CDH) defect allows viscera to herniate into the chest, competing for space with the developing lungs. At birth, pulmonary hypoplasia leads to respiratory insufficiency and persistent pulmonary hypertension that is lethal in up to 30% of patients. Antenatal measurement of lung size and liver herniation can predict survival after birth. Prenatal intervention aims at stimulating lung development, clinically achieved by percutaneous fetal endoscopic tracheal occlusion (FETO) under local anesthesia...
March 3, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28263524/foetal-asphyxia-as-a-strong-stimulator-of-the-sympathetic-nervous-system-in-the-brain-case-report
#20
Ingrid Brucknerová, Eduard Ujházy
The aim of the study was to analyse case report of prenatally unknown asphyxia of the foetus (a preterm newborn from the second pregnancy delivered by urgent caesarean section in 31st gestational week; birth weight 850 grams, birth length 41 cm, value of Apgar score 7/8) with signs of respiratory insufficiency immediately after birth with hypotonicity. The authors present the case of postnatal at the 1st day of life assessed cystic malformation in the brain of premature newborn. They emphasize the importance of detailed prenatal investigation as most important in preventing prenatal asphyxia and consequent complications...
December 18, 2016: Neuro Endocrinology Letters
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