1,277 results match your criteria Hyperventilation Syndrome


The antitussive cloperastine improves breathing abnormalities in a Rett Syndrome mouse model by blocking presynaptic GIRK channels and enhancing GABA release.

Neuropharmacology 2020 Jul 2:108214. Epub 2020 Jul 2.

Department of Biology, Georgia State University, 100 Piedmont Avenue, Atlanta, GA, 30303, USA. Electronic address:

Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder caused mainly by mutations in the MECP2 gene. One of the major RTT features is breathing dysfunction characterized by periodic hypo- and hyperventilation. The breathing disorders are associated with increased brainstem neuronal excitability, which can be alleviated with antagonistic agents. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuropharm.2020.108214DOI Listing

Sinking skin flap syndrome in the multi-trauma patient: a paradoxical management to TBI post craniectomy.

J Surg Case Rep 2020 Jun 19;2020(6):rjaa172. Epub 2020 Jun 19.

Department of Surgery, NYU Langone Health, New York, 10016, USA.

Sinking skin flap syndrome is a rare syndrome leading to increased intracranial pressure, known to neurosurgeons, yet uncommon and hardly ever reported in trauma patients. In a hospitalized trauma patient with declining neurological status, rarely do we encounter further deterioration by elevating the patients' head, diuresis and hyperventilation. However, after craniectomy for trauma, a partially boneless cranium may be compressed by the higher atmospheric pressure, that intracranial pressure rises to dangerous levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jscr/rjaa172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303104PMC

[Hyperventilation syndrome and dysfunctional breathing : update].

Rev Med Suisse 2020 Jun;16(698):1243-1249

Service de pneumologie, Réseau hospitalier neuchâtelois, Hôpital Pourtalès, 2000 Neuchâtel.

Dysfunctional breathing is a group of respiratory disorders that cause dyspnea, with no organic cause, or that are disproportionate to the organ involvement. Hyperventilation syndrome is the best-known manifestation of dysfunctional breathing. It is very often associated or secondary to anxiety disorders. Read More

View Article

Download full-text PDF

Source

Breathing pattern disorders (dysfunctional breathing) characteristics and outcomes of children and young people attending a secondary care respiratory clinic.

Pediatr Pulmonol 2020 Jul 25;55(7):1736-1744. Epub 2020 May 25.

Speech and Language Department, Kent Community NHS Foundation Community Trust, Kent, UK.

Methods: We retrospectively audited the health records of 18 patients with breathing pattern disorders (BPDs), who were diagnosed in our respiratory clinic (2015-2018), and then referred onto our dysfunctional breathing care pathway to a specialist speech and language therapist.

Results: The age of the patients ranged from 11 to 16 years (median: 14 years, 14 female/4 male patients). Comorbidities included the following: 16 patients had asthma, 2 patients had a tracheoesophageal fistula and esophageal atresia repair, one patient suffered from chronic regional pain syndrome, and one patient had chronic fatigue syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24791DOI Listing

Moyamoya Presenting after Whole Body Cryotherapy.

Acta Neurol Taiwan 2020 Jun;29(2):64-66

University of California, San Diego, Department of Neurosciences, Stroke Center.

Background Purpose: Moyamoya syndrome is the progressive stenosis of intracranial carotids with secondary collateralization. Whole body cryotherapy (WBC) involves external cooling and is used in holistic and sports medicine, its neurologic effects are unknown.

Case Report: We report a first case of symptoms of moyamoya syndrome presenting following WBC and diagnosed with classic MRI ( "Brush Sign", "Ivy sign") and digital subtracted angiography. Read More

View Article

Download full-text PDF

Source

[Guide for follow-up of patients with SARS-CoV-2 pneumonia. Management proposals developed by the French-language Respiratory Medicine Society. Version of 10 May 2020].

Rev Mal Respir 2020 Jun 14;37(6):505-510. Epub 2020 May 14.

Unité de pneumologie, hôpitaux universitaires Henri-Mondor, université Paris Est Créteil, Assistance publique-Hôpitaux de Paris, 94000 Créteil, France.

The French-language Respiratory Medicine Society (SPLF) proposes a guide for the follow-up of patients who have presented with SARS-CoV-2 pneumonia. The proposals are based on known data from previous epidemics, on acute lesions observed in SARS-CoV-2 patients and on expert opinion. This guide proposes a follow-up based on three categories of patients: (1) patients managed outside hospital for possible or proven SARS-CoV-2 infection, referred by their physician for persistent dyspnoea; (2) patients hospitalized for SARS-CoV-2 pneumonia in a medical unit; (3) patients hospitalized for SARS-CoV-2 pneumonia in an intensive care unit. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmr.2020.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221358PMC

How to carry out and interpret EEG recordings in COVID-19 patients in ICU?

Clin Neurophysiol 2020 Aug 13;131(8):2023-2031. Epub 2020 May 13.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

There are questions and challenges regarding neurologic complications in COVID-19 patients. EEG is a safe and efficient tool for the evaluation of brain function, even in the context of COVID-19. However, EEG technologists should not be put in danger if obtaining an EEG does not significantly advance diagnosis or change management in the patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinph.2020.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217782PMC

Respiratory conditions in coronavirus disease 2019 (COVID-19): Important considerations regarding novel treatment strategies to reduce mortality.

Med Hypotheses 2020 Apr 22;140:109760. Epub 2020 Apr 22.

Institute of Chronic Illnesses, Inc, 14 Redgate Ct, Silver Spring, MD 20905, USA.

A novel virus named 2019 novel coronavirus (2019-nCoV/SARS-CoV-2) causes symptoms that are classified as coronavirus disease (COVID-19). Respiratory conditions are extensively described among more serious cases of COVID-19, and the onset of acute respiratory distress syndrome (ARDS) is one of the hallmark features of critical COVID-19 cases. ARDS can be directly life-threatening because it is associated with low blood oxygenation levels and can result in organ failure. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mehy.2020.109760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175905PMC

Renal histopathological analysis of 26 postmortem findings of patients with COVID-19 in China.

Kidney Int 2020 07 9;98(1):219-227. Epub 2020 Apr 9.

Department of Nephrology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:

Although the respiratory and immune systems are the major targets of Coronavirus Disease 2019 (COVID-19), acute kidney injury and proteinuria have also been observed. Currently, detailed pathologic examination of kidney damage in critically ill patients with COVID-19 has been lacking. To help define this we analyzed kidney abnormalities in 26 autopsies of patients with COVID-19 by light microscopy, ultrastructural observation and immunostaining. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194105PMC

Datasets describing the introduction of the high-sensitive troponin in the emergency department.

Data Brief 2020 Jun 8;30:105481. Epub 2020 Apr 8.

Horten Centre for Patient Oriented Research and Knowledge Transfer, University of Zurich, Pestalozzistrasse 24, Zurich CH-8032, Switzerland.

Chest pain is a common clinical condition in the emergency department. A high sensitive (hs) troponin test assay may help to identify patients with acute coronary syndrome earlier compared to conventional tests but also entails the risk of a high proportion of positive test results in patients without cardiac disease. We assessed the impact of the introduction of the hs-troponin test in clinical practice in an emergency department. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dib.2020.105481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160515PMC

[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Apr;37(4):459-461

Center of Prenatal Diagnosis, Huzhou Maternity and Child Health Care Hospital, Zhejiang 313000, China.

Objective: To explore the genetic basis for a child featuring delayed intellectual development.

Methods: The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.04.024DOI Listing

A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.

Nat Neurosci 2020 03 3;23(3):375-385. Epub 2020 Feb 3.

Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.

Autism spectrum disorder (ASD) is genetically heterogeneous with convergent symptomatology, suggesting common dysregulated pathways. In this study, we analyzed brain transcriptional changes in five mouse models of Pitt-Hopkins syndrome (PTHS), a syndromic form of ASD caused by mutations in the TCF4 gene, but not the TCF7L2 gene. Analyses of differentially expressed genes (DEGs) highlighted oligodendrocyte (OL) dysregulation, which we confirmed in two additional mouse models of syndromic ASD (Pten and Mecp2). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41593-019-0578-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065955PMC

Adaptation of Respiratory-Related Brain Regions to Long-Term Hypercapnia: Focus on Neuropeptides in the RTN.

Front Neurosci 2019 13;13:1343. Epub 2019 Dec 13.

Department of Pharmacology, School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.

Long-term hypercapnia is associated with respiratory conditions including obstructive sleep apnea, chronic obstructive pulmonary disease and obesity hypoventilation syndrome. Animal studies have demonstrated an initial (within hours) increase in ventilatory drive followed by a decrease in this response over the long-term (days-weeks) in response hypercapnia. Little is known about whether changes in the central respiratory chemoreflex are involved. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnins.2019.01343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923677PMC
December 2019

Psychological Mediation of Dysfunction and Hyperfunction of Respiratory Regulation.

Behav Sci (Basel) 2019 Dec 19;10(1). Epub 2019 Dec 19.

Faculty of Psychology, Lomonosov Moscow State University, 125009 Moscow, Russia.

This research investigates the continuum between the dysfunction and the hyperfunction of breath regulation and presents the psychological mediation that supports or disrupts this regulation. The pilot study compared breathing regulation in patients with hyperventilation syndrome (HVS), free divers, and healthy volunteers. To examine the ability of voluntary respiration regulation, breath holding involving "easy-going" and "struggling" phases was used. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/bs10010005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017271PMC
December 2019

Hyperventilation Syndrome: Investigating the Relationship Between Nijmegen Questionnaire, Vestibular Function Tests, and Patient Symptoms.

Otol Neurotol 2020 Mar;41(3):e349-e356

Department of Otolaryngology-Head and Neck Surgery, Addenbrooke's Hospital, Cambridge, UK.

Objective: To explore the Nijmegen Questionnaire (NQ) and its relationship to vestibular function tests and symptoms in patients with dizziness; to compare patient characteristics between those with a positive Nijmegen score and patients clinically diagnosed with hyperventilation syndrome (HVS).

Study Design: Retrospective case series.

Setting: Tertiary neurotology referral center. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MAO.0000000000002531DOI Listing
March 2020
1.598 Impact Factor

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.

Child Neurol Open 2019 19;6:2329048X19876199. Epub 2019 Sep 19.

Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children's Hospital Neuroscience Institute, Memphis, TN, USA.

Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing receptor gene mutation. She is a 16-year-old female who began having staring events around 3 years of age. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2329048X19876199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852356PMC
September 2019

Sepsis patient evaluation emergency department (SPEED) score & mortality in emergency department sepsis (MEDS) score in predicting 28-day mortality of emergency sepsis patients.

Chin J Traumatol 2019 Dec 6;22(6):316-322. Epub 2019 Nov 6.

Department of Emergency Medicine, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

Purpose: Sepsis is a common acute life-threatening condition that emergency physicians routinely face. Diagnostic options within the Emergency Department (ED) are limited due to lack of infrastructure, consequently limiting the use of invasive hemodynamic monitoring or imaging tests. The mortality rate due to sepsis can be assessed via multiple scoring systems, for example, mortality in emergency department sepsis (MEDS) score and sepsis patient evaluation in the emergency department (SPEED) score, both of which quantify the variation of mortality rates according to clinical findings, laboratory data, or therapeutic interventions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cjtee.2019.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921192PMC
December 2019

Breathlessness and dysfunctional breathing in patients with postural orthostatic tachycardia syndrome (POTS): The impact of a physiotherapy intervention.

Auton Neurosci 2020 01 12;223:102601. Epub 2019 Nov 12.

King's College London, Centre for Human and Aerospace Physiological Sciences, United Kingdom of Great Britain and Northern Ireland.

Postural orthostatic tachycardia syndrome (POTS) is a chronic, multifactorial syndrome with complex symptoms of orthostatic intolerance. Breathlessness is a prevalent symptom, however little is known about the aetiology. Anecdotal evidence suggests that breathless POTS patients commonly demonstrate dysfunctional breathing/hyperventilation syndrome (DB/HVS). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.autneu.2019.102601DOI Listing
January 2020

Headache and Methemoglobinemia.

Headache 2020 Jan 14;60(1):291-297. Epub 2019 Nov 14.

The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA, USA.

Aim: This basic review is intended to summarize the current knowledge of methemoglobinemia as an important cause of secondary headache with the hope of generating a growing interest in studying this phenomenon.

Background: We describe the pathological underpinnings of headaches generated by hypoxia. Possible mechanisms include cerebral vasodilation-associated stretching of the vessel nociceptors, sensitization of perivascular nociceptors mediated by nitric oxide, cerebral calcitonin gene-related peptide, activation of the cyclic adenosine monophosphate pathway, cortical spreading depression, disruption of the blood-brain barrier, and neurogenic inflammation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/head.13696DOI Listing
January 2020

Perampanel-induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome.

Epileptic Disord 2019 Oct;21(5):479-482

Epilepsy Center, Cleveland Clinic, Cleveland, USA.

Antiepileptic drug side effects are frequent, 42% of them corresponding to cosmetic changes. The most frequent effects are weight gain, gingival hyperplasia, and hair loss. Hair changes in texture or colour are rarely reported in the literature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2019.1103DOI Listing
October 2019

Unexplained exertional intolerance associated with impaired systemic oxygen extraction.

Eur J Appl Physiol 2019 Oct 6;119(10):2375-2389. Epub 2019 Sep 6.

Division of Pulmonary and Critical Care Medicine, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, USA.

Purpose: The clinical investigation of exertional intolerance generally focuses on cardiopulmonary diseases, while peripheral factors are often overlooked. We hypothesize that a subset of patients exists whose predominant exercise limitation is due to abnormal systemic oxygen extraction (SOE).

Methods: We reviewed invasive cardiopulmonary exercise test (iCPET) results of 313 consecutive patients presenting with unexplained exertional intolerance. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00421-019-04222-6
Publisher Site
http://dx.doi.org/10.1007/s00421-019-04222-6DOI Listing
October 2019
18 Reads

Repurposing Approved Drugs as Inhibitors of K7.1 and Na1.8 to Treat Pitt Hopkins Syndrome.

Pharm Res 2019 Jul 22;36(9):137. Epub 2019 Jul 22.

Icagen, Inc., 4222 Emperor Blvd, Durham, North Carolina, 27703, USA.

Purpose: Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder caused by mutations of a specific gene, transcription factor 4 (TCF4), located on chromosome 18. PTHS results in individuals that have moderate to severe intellectual disability, with most exhibiting psychomotor delay. PTHS also exhibits features of autistic spectrum disorders, which are characterized by the impaired ability to communicate and socialize. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11095-019-2671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814258PMC
July 2019
11 Reads

[Cardiopulmonary exercise testing for the diagnosis of unexplained dyspnea: a review of 194 cases].

Rev Mal Respir 2019 May 14;36(5):591-599. Epub 2019 Jun 14.

CHU de Lille, hôpital A.-Calmette, Service de pneumologie et immuno-allergologie, centre de référence constitutif des maladies pulmonaires rares, 59000 Lille, France; Université de Lille, 59000 Lille, France; Service de pneumologie, centre hospitalier de Beuvry, 62408 Béthune cedex, France.

Introduction: Chronic dyspnoea that remains unexplained after resting pulmonary function and cardiovascular testing is a common problem in clinical practice. The aim of this study was to determine the utility of cardiopulmonary exercise testing (CPET) in the diagnosis of unexplained dyspnoea.

Methods: This retrospective single-centre study included consecutive patients with dyspnoea who had normal resting cardiopulmonary examinations (including chest X-ray, electrocardiography, pulmonary function tests [PFTs], and cardiac ultrasound). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmr.2019.03.012DOI Listing
May 2019
13 Reads

Unilateral recurrent laryngeal nerve palsy post-thyroidectomy: Looking for hyperventilation syndrome.

Eur Ann Otorhinolaryngol Head Neck Dis 2019 Oct 6;136(5):373-377. Epub 2019 Jun 6.

Inserm, U955, E13, Créteil, 94010, France; CNRS ERL7000, Créteil, 94010, France; Inserm, U955, E4, Créteil, 94010, France; Service d'ORL et de chirurgie cervico-faciale, Hôpital Kremlin-Bicetre, AP-HP, Le Kremlin-Bicetre, 94275, France; Faculté de Médecine, Université Paris-Sud, Kremlin-Bicêtre 94070, France.

Aims: Unilateral Recurrent Laryngeal Nerve (RLN) palsy is responsible for dysphonia and difficulties in swallowing. The role of unilateral RLN palsy on dyspnea is not fully elucidated. Our hypothesis is that air leak could be responsible for development of hyperventilation syndrome (HVS). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anorl.2019.05.019DOI Listing
October 2019
4 Reads

Guillain-Barré syndrome in a cancer patient treated with bevacizumab.

Int Cancer Conf J 2018 Jul 2;7(3):87-92. Epub 2018 May 2.

Department of Clinical Oncology , Akita, Japan.

We describe a case of Guillain-Barré syndrome (GBS) in a patient treated with bevacizumab. Our case is a 60-year-old woman with Stewart-Treves syndrome (STS), and angiosarcoma of her left forearm, with onset 12 years after diagnosis with stage IIIA left breast cancer. She suffered from repeated distal metastases including skin, bone, and liver metastases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13691-018-0326-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498388PMC
July 2018
21 Reads

Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.

Nucleic Acids Res 2019 09;47(16):8375-8387

Department of Molecular and Cellular Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

The psychiatric risk-associated transcription factor 4 (TCF4) is linked to schizophrenia. Rare TCF4 coding variants are found in individuals with Pitt-Hopkins syndrome-an intellectual disability and autism spectrum disorder. TCF4 contains a C-terminal basic-helix-loop-helix (bHLH) DNA binding domain which recognizes the enhancer-box (E-box) element 5'-CANNTG-3' (where N = any nucleotide). Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gkz381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895265PMC
September 2019
22 Reads

Why Physiology Is Critical to the Practice of Medicine: A 40-year Personal Perspective.

Authors:
Martin J Tobin

Clin Chest Med 2019 06;40(2):243-257

Division of Pulmonary and Critical Care Medicine, Hines Veterans Affairs Hospital, Loyola University of Chicago Stritch School of Medicine, Hines, IL 60141, USA. Electronic address:

Accuracy in diagnosis trumps all other elements in clinical decision making. If diagnosis is inaccurate, management is likely to prove futile if not dangerous. Knowledge of physiology provides a periscope for identifying abnormalities beneath the skin responsible for clinical manifestations on the surface. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S02725231193001
Publisher Site
http://dx.doi.org/10.1016/j.ccm.2019.02.012DOI Listing
June 2019
8 Reads

[Respiratory dyskinesia].

Ugeskr Laeger 2019 Apr;181(17)

In this review, we discuss respiratory dyskinesia, which is a rare adverse reaction to antipsychotic medications. The condition may mimic psychogenic hyperventilation syndrome or other respiratory or cardiac disorder. Respiratory dyskinesia is mostly seen in patients with tardive dyskinesia but may precede manifestations of tardive dyskinesia. Read More

View Article

Download full-text PDF

Source
April 2019
9 Reads

Cardiopulmonary exercise testing for identification of patients with hyperventilation syndrome.

PLoS One 2019 23;14(4):e0215997. Epub 2019 Apr 23.

Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Introduction: Measurement of ventilatory efficiency, defined as minute ventilation per unit carbon dioxide production (VE/VCO2), by cardiopulmonary exercise testing (CPET) has been proposed as a screen for hyperventilation syndrome (HVS). However, increased VE/VCO2 may be associated with other disorders which need to be distinguished from HVS. A more specific marker of HVS by CPET would be clinically useful. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215997PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478351PMC
January 2020
26 Reads

Sequelae of Acute Respiratory Distress Syndrome: Interest of Rehabilitation.

Case Rep Crit Care 2019 6;2019:7953141. Epub 2019 Mar 6.

Normandie Université, UNIROUEN, EA 3832: Centre d'Etudes des Transformations par les Activités Physiques et Sportives, Institut de Recherche Interdisciplinaire Homme et Société, 76130 Mont-Saint-Aignan, France.

Case Presentation: This clinical case presents the history of a woman hospitalized for acute respiratory distress syndrome (ARDS). A 62-year-old woman, with regular physical activity and no history of respiratory disease or smoking, was hospitalized for moderate ARDS with bilateral pneumonitis. Fourteen days later, she was discharged from the intensive care unit and received respiratory physical therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/7953141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431389PMC
March 2019
6 Reads

Hyperventilation Hypocapnia as The Leonardo da Vinci's Syndrome.

Psychiatr Danub 2019 Mar;31(Suppl 1):75-78

Saint Petersburg State University, Saint Petersburg, 199034, Russia.

The paper in early history of pulmonary medicine deals with studies of hypocapnia as a result of hyperventilation. Hyperventilation hypocapnia provokes respiratory alkalosis, subsequent ion changes in blood may cause disorders of myocardium conductivity and excitability resulted in arrhythmiae and even heart failure. Besides, hypocapnia limits the cerebral circulation which may be manifested in euphoria and even loss of consciousness. Read More

View Article

Download full-text PDF

Source
March 2019
9 Reads

Feasibility and economic assessment of chromocolonoscopy for detection of proximal serrated neoplasia within a population-based colorectal cancer screening programme (CONSCOP): an open-label, randomised controlled non-inferiority trial.

Lancet Gastroenterol Hepatol 2019 05 16;4(5):364-375. Epub 2019 Mar 16.

Division of Population Medicine, Cardiff University School of Medicine, Cardiff, UK. Electronic address:

Background: Most post-colonoscopy interval colorectal cancers are proximal; serrated polyps are often precursors to these cancers and are considered difficult to detect. We assessed the safety, feasibility, and economic effect of chromocolonoscopy on detection of proximal serrated neoplasia.

Methods: We did an open-label, multicentre, randomised, controlled non-inferiority trial including patients from Bowel Screening Wales centres. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2468-1253(19)30035-4DOI Listing
May 2019
8 Reads

[Dyspnoea in asthma: diagnostic approach].

Presse Med 2019 Mar 8;48(3 Pt 1):274-281. Epub 2019 Mar 8.

Université Paris-Sud, faculté de médecine, université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France; AP-HP, Hôpital Bicêtre, service de physiologie, 94270 Le Kremlin-Bicêtre, France.

Dyspnoea is a cardinal symptom of asthma and an essential part of assessing control of the disease. Its intensity is variable for the same level of bronchial obstruction, which suggests the involvement of other mechanisms. Therefore, it is extremely important to characterize and measure dyspnoea in asthmatic patients because its profile can be quantitatively and qualitatively modified by disease control, comorbidities and anxiety. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2019.01.008DOI Listing
March 2019
7 Reads

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.

Acta Neuropathol 2019 04 8;137(4):675-678. Epub 2019 Mar 8.

Pediatric Oncology Department, SIREDO Oncology Centre (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), Institut Curie, 26, rue d'Ulm, 75248, Paris Cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01983-4DOI Listing
April 2019
15 Reads
10.762 Impact Factor

TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.

Acta Neuropathol 2019 04 4;137(4):657-673. Epub 2019 Mar 4.

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

The TCF4 gene encodes for the basic helix-loop-helix transcription factor 4 (TCF4), which plays an important role in the development of the central nervous system (CNS). Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder. Recently, the screening of a large cohort of medulloblastoma (MB), a highly aggressive embryonal brain tumor, revealed almost 20% of adult patients with MB of the Sonic hedgehog (SHH) subtype carrying somatic TCF4 mutations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01982-5DOI Listing
April 2019
15 Reads

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Clin Dysmorphol 2019 Apr;28(2):66-70

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000259DOI Listing
April 2019
39 Reads

A Practical Guide to Treatment of Childhood Absence Epilepsy.

Paediatr Drugs 2019 Feb;21(1):15-24

Kaiser Permanente Los Angeles Medical Center, Los Angeles, CA, USA.

Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome with distinct seizure semiology, electroencephalography (EEG) features, and treatment. A diagnosis of CAE can be obtained during an office visit with a careful history, physical exam including prolonged hyperventilation, and a routine EEG. The treatment of choice for CAE with absence seizures only is ethosuximide. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40272-019-00325-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394437PMC
February 2019
12 Reads

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Clin Genet 2019 04 18;95(4):462-478. Epub 2019 Feb 18.

Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13506DOI Listing
April 2019
36 Reads

Prevalence and extent of right-to-left shunt on contrast-enhanced transcranial Doppler in patients with chronic hyperventilation syndrome: results of a case-control study.

Neurol Neurochir Pol 2019;53(1):90-94. Epub 2019 Jan 7.

Clinic of Neurology, Military Medical Institute, Szaserow 128, 04-141 Warsaw, Poland.

Aim: Chronic hyperventilation syndrome (CHVS) represents a frequent but poorly understood breathing pattern disorder. In a previous small pilot study, we reported a higher prevalence of right-to-left shunt (RLS) in CHVS patients than in healthy subjects. The aim of this study was to confirm those previous results from this larger and matched case-control study, and to evaluate the prevalence and grade of RLS in patients with CHVS in whom organic and psychiatric causes were excluded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5603/PJNNS.a2019.0003DOI Listing
June 2019
9 Reads

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

Neuroscience 2019 01 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03064522183073
Publisher Site
http://dx.doi.org/10.1016/j.neuroscience.2018.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415544PMC
January 2019
22 Reads

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Am J Med Genet A 2019 01 18;179(1):134-138. Epub 2018 Nov 18.

Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.60692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587998PMC
January 2019
22 Reads

Anesthetic considerations for cesarean section in a parturient complicated by Scimitar syndrome-like pathophysiology.

JA Clin Rep 2018 Nov 9;4(1):78. Epub 2018 Nov 9.

Faculty of Medicine, Department of Anesthesiology, Tokyo Women's Medical University, Kawada-cho 8-1, Shinjuku-ku, Tokyo, Japan.

Background: Pre-existing poor respiratory function is a significant challenge for women to successfully continue pregnancy and accomplish delivery.

Case: Pregnancy and delivery were successfully managed without any maternal or neonatal complications, in a 26-year-old woman with severely impaired respiratory function, due to a unilateral hypoplastic lung, accompanying Scimitar syndrome-like circulation. Hyperventilation, normally observed even at the first trimester, was absent by the end of the second trimester. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40981-018-0215-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6967172PMC
November 2018

Pitt-Hopkins Syndrome: A Unique Case Study.

J Int Neuropsychol Soc 2018 10;24(9):995-1002

1Children's Health Children's Medical Center,Dallas,Texas.

Objectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells. Read More

View Article

Download full-text PDF

Source
https://www.cambridge.org/core/product/identifier/S135561771
Publisher Site
http://dx.doi.org/10.1017/S1355617718000668DOI Listing
October 2018
7 Reads

[A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation].

Rinsho Shinkeigaku 2018 Nov 27;58(11):673-676. Epub 2018 Oct 27.

Department of Neurology, The Jikei University Kashiwa Hospital.

We report the case of a 43-year-old female patient who presented with symptoms of abnormal behavior, hearing loss, ataxic gait, central hyperventilation which had appeared over the course of one month. Brain MRI showed no abnormal findings in DWI and EEG did not indicate periodic synchronous discharge (PSD). Over the course of the same month, she also presented with central apnea that intermittently showed spontaneous improvement and reappearance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001197DOI Listing
November 2018
10 Reads

Is Acupressure Useful for Alleviating Hyperventilation Syndrome?

Chin J Integr Med 2019 Jun;25(6):468-470

Division of Chest Pain Center, Guangdong Provincial Hospital of Chinese Medicine, the 2nd Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, 510120, China.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11655-018-2994-2
Publisher Site
http://dx.doi.org/10.1007/s11655-018-2994-2DOI Listing
June 2019
23 Reads

Hemodynamic characteristics of postural hyperventilation: POTS with hyperventilation versus panic versus voluntary hyperventilation.

J Appl Physiol (1985) 2018 11 23;125(5):1396-1403. Epub 2018 Aug 23.

Department of Pediatrics, New York Medical College, Valhalla, New York.

Upright hyperventilation occurs in ~25% of our patients with postural tachycardia syndrome (POTS). Poikilocapnic hyperventilation alone causes tachycardia. Here, we examined changes in respiration and hemodynamics comprising cardiac output (CO), systemic vascular resistance (SVR), and blood pressure (BP) measured during head-up tilt (HUT) in three groups: patients with POTS and hyperventilation (POTS-HV), patients with panic disorder who hyperventilate (Panic), and healthy controls performing voluntary upright hyperpnea (Voluntary-HV). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/japplphysiol.00377.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442665PMC
November 2018
36 Reads

Hyperventilation Syndrome and Sustained Hyperchloremia After Kidney Transplant: Time-Sequence Swing of Acid-Base Interpretation.

Exp Clin Transplant 2018 12 17;16(6):754-756. Epub 2018 Aug 17.

Department of Anesthesiology and Pain Medicine, Yeungnam University Hospital, Daegu, Korea.

An interaction between regained renal function in a transplanted kidney and hyperventilation syndrome may interfere with correct diagnosis of acid-base status in patients with preoperative nongap acidosis. Here, we present a patient with glomerular nephritis and hyperchloremia who underwent kidney transplant. Progressively increasing bicarbonate reabsorption by the renal graft, which thereby changed the arterial carbon dioxide tension-to-bicarbonate ratio, resulted in a time-sequence swing of an acid-base interpretation despite persistent mixed respiratory alkalosis due to hyperventilation syndrome and nongap metabolic acidosis due to preexisting hyperchloremia. Read More

View Article

Download full-text PDF

Source
http://www.ectrx.org/forms/ectrxcontentshow.php?doi_id=10.60
Publisher Site
http://dx.doi.org/10.6002/ect.2018.0099DOI Listing
December 2018
13 Reads