1,230 results match your criteria Hyperventilation Syndrome


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

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http://dx.doi.org/10.1007/s40272-019-00325-xDOI Listing
February 2019
1 Read

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 Jan 7. 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 previous results from this larger and matched case-control study and evaluate the prevalence and grade of RLS in patients with CHVS in whom organic and psychiatric causes were excluded. Read More

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http://dx.doi.org/10.5603/PJNNS.a2019.0003DOI Listing
January 2019
1 Read

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

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183073
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http://dx.doi.org/10.1016/j.neuroscience.2018.11.011DOI Listing
January 2019
5 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

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http://dx.doi.org/10.5692/clinicalneurol.cn-001197DOI Listing
November 2018
1 Read

Is Acupressure Useful for Alleviating Hyperventilation Syndrome?

Chin J Integr Med 2018 Aug 28. Epub 2018 Aug 28.

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

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http://link.springer.com/10.1007/s11655-018-2994-2
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http://dx.doi.org/10.1007/s11655-018-2994-2DOI Listing
August 2018
17 Reads

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

J Appl Physiol (1985) 2018 Nov 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

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http://dx.doi.org/10.1152/japplphysiol.00377.2018DOI Listing
November 2018
5 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

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

Post-hyperventilation Apnea with Spindle Activity on Electroencephalogram.

Intern Med 2018 Dec 10;57(24):3659-3662. Epub 2018 Aug 10.

Department of Neurology, Kobe City Medical Center General Hospital, Japan.

Loss of consciousness occurs in post-hyperventilation apnea, but its pathophysiology remains unclear. We herein report a patient with post-hyperventilation apnea showing spindle activity on electroencephalogram (EEG). The patient was alert and breathing spontaneously before the hyperventilation test, but loss of consciousness and apnea with spindle activity on EEG occurred when the end-tidal CO decreased during the hyperventilation test. Read More

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http://dx.doi.org/10.2169/internalmedicine.1161-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355414PMC
December 2018
7 Reads

Amantadine for the Treatment of Refractory Absence Seizures in Children.

J Pediatr Neurosci 2018 Apr-Jun;13(2):131-136

Department of Paediatric Neurology, Government Medical College, Thiruvananthapuram, Kerala, India.

Introduction: Childhood epilepsy is a generalized epilepsy syndrome with a favorable response to antiepileptic drugs; however, a small percentage of typical absence seizures remain refractory to drugs. We studied the safety and efficacy of amantadine in children with refractory absence seizures.

Materials And Methods: Of 48 children with typical absence seizures attending the outpatient department of a tertiary care neurological center over a period of 3 years from July 2013 to June 2016, 4 children who were refractory to standard treatment for at least 1 year were selected and were started on amantadine 4-6 mg/kg/day, after obtaining informed consent. Read More

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http://dx.doi.org/10.4103/jpn.JPN_51_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057196PMC
August 2018
3 Reads

Postural Hyperventilation as a Cause of Postural Tachycardia Syndrome: Increased Systemic Vascular Resistance and Decreased Cardiac Output When Upright in All Postural Tachycardia Syndrome Variants.

J Am Heart Assoc 2018 Jun 30;7(13). Epub 2018 Jun 30.

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

Background: Postural tachycardia syndrome (POTS) is a heterogeneous condition. We stratified patients previously evaluated for POTS on the basis of supine resting cardiac output (CO) or with the complaint of platypnea or "shortness of breath" during orthostasis. We hypothesize that postural hyperventilation is one cause of POTS and that hyperventilation-associated POTS occurs when initial reduction in CO is sufficiently large. Read More

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http://dx.doi.org/10.1161/JAHA.118.008854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064900PMC
June 2018
7 Reads
2.882 Impact Factor

[The dynamics of cerebral vascular reserve in sleep apnea patients during continuous positive airway pressure therapy].

Zh Nevrol Psikhiatr Im S S Korsakova 2018;118(5):14-17

Sverzhevsky Research and Clinical Center of Otorhinolaryngology, Moscow, Russia.

Aim: To explore the possibility of cerebral hemodynamic reserve (CHR) normalization in patients with obstructive sleep apnea syndrome (OSAS), aged over fifty, who received continuous positive airway pressure (CPAP) therapy.

Material And Methods: The main group (20 patients, aged 50-65 years, with severe OSAS) and the control group (20 volunteers without snoring and OSAS matched for age and physical status) were studied. Diagnosis included cardio-respiratory monitoring of nocturnal sleep and ultrasound examination of cerebral blood flow with functional tests (breath holding and hyperventilation) and calculating the coefficient of vasomotor reactivity (CVMR) before the start of CPAP-therapy and after one month therapy. Read More

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http://dx.doi.org/10.17116/jnevro20181185114DOI Listing
January 2018
2 Reads

Ventilation management in Victorian intensive care unit patients without acute respiratory distress syndrome.

Crit Care Resusc 2018 06;20(2):101-108

Department of Intensive Care, Austin Health, Melbourne, Vic, Australia.

Background: The setting of tidal volume (V) during controlled mechanical ventilation (CMV) in critically ill patients without acute respiratory distress syndrome (ARDS) is likely important but currently unknown. We aimed to describe current CMV settings in intensive care units (ICUs) across Victoria.

Methods: We performed a multicentre, prospective, observational study. Read More

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June 2018
13 Reads
2.154 Impact Factor

Sleep architecture and epileptic characteristics of drug naïve patients in childhood absence epilepsy spectrum. A prospective study.

Seizure 2018 Jul 30;59:99-107. Epub 2018 Apr 30.

Faculty of Nursing, Pediatric Clinic, "P. & A. Kyriakou" Children's Hospital, National & Kapodistrian University of Athens, Greece.

Purpose: Childhood absence epilepsy (CAE) is an epileptic syndrome presenting between 2nd-10th years. The spells are elicited with hyperventilation (HV) while sleep seems to exacerbate the electrical activity. Our aim is to describe sleep architecture and its relationship with epileptic discharges (EDs) in patients with CAE, before treatment and one year later. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.04.021DOI Listing
July 2018
9 Reads

[The obstructive sleep apnoea syndrome is not only bad for the heart!]

Rev Mal Respir 2018 May;35(5):562-566

Clinique des bronches, allergies et du sommeil, hôpital Nord, Assistance publique-Hôpitaux de Marseille, chemin des Bourrely, 13015 Marseille, France; Inserm U1067, CNRS UMR 7333 Aix-Marseille université, 13009 Marseille, France.

Obstructive sleep apnoea (OSA) is common in the general population, particularly in the elderly. This syndrome is frequently responsible for severe cardiovascular complications. However, the indications for its treatment in the elderly remain controversial. Read More

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http://dx.doi.org/10.1016/j.rmr.2017.10.666DOI Listing
May 2018
3 Reads

Generalized and Lateralized Rhythmic Patterns.

Authors:
Sarah E Schmitt

J Clin Neurophysiol 2018 May;35(3):218-228

Department of Neurology, Medical University of South Carolina, Charleston, SC, U.S.A.

The relationship between generalized and lateralized rhythmic delta activity (RDA) and seizures is more ambiguous than the relationship between periodic discharges and seizures. Although frontally predominant generalized RDA is not associated with seizures, occipitally predominant RDA may be associated with the absence of seizures. Lateralized RDA seems to be more strongly associated with the presence of seizure activity. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000446DOI Listing
May 2018
4 Reads

Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion.

Pediatr Int 2018 May 6;60(5):479-481. Epub 2018 Apr 6.

Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.

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http://dx.doi.org/10.1111/ped.13514DOI Listing
May 2018
6 Reads

Rescue of hyperexcitability in hippocampal CA1 neurons from Mecp2 (-/y) mouse through surface potential neutralization.

PLoS One 2018 5;13(4):e0195094. Epub 2018 Apr 5.

CNMPB (Centre for Nanoscale Microscopy and Molecular Physiology of the Brain, Cluster of Excellence 171, DFG Research Center 103), Institute of Neuro and Sensory Physiology, Georg-August-University, Göttingen, Germany.

Hyperventilation is a known feature of Rett syndrome (RTT). However, how hyperventilation is related to other RTT symptoms such as hyperexcitability is unknown. Intense breathing during hyperventilation induces hypocapnia and culminates in respiratory alkalosis. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0195094PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886422PMC
July 2018
2 Reads

A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy.

Int J Dev Neurosci 2018 Jun 28;67:51-54. Epub 2018 Mar 28.

Department of Pediatrics, The Affiliated Hospital of Qingdao University, NO. 16, Jiangsu Road, Qingdao, 266000, China. Electronic address:

Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of them with a TCF4 mutation manifest the central nervous system (CNS) disorders. Read More

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http://dx.doi.org/10.1016/j.ijdevneu.2018.03.010DOI Listing
June 2018
6 Reads

Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome.

J Clin Psychopharmacol 2018 06;38(3):260-261

University Psychiatric Centre KU Leuven Catholic University of Leuven Leuven, Belgium Centre for Human Genetics Catholic University Leuven Leuven, Belgium.

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http://Insights.ovid.com/crossref?an=00004714-201806000-0001
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http://dx.doi.org/10.1097/JCP.0000000000000871DOI Listing
June 2018
10 Reads

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.

Mol Autism 2018 22;9:20. Epub 2018 Mar 22.

1Institute of Biochemistry, Emil Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

Background: Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function.

Methods: We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. Read More

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http://dx.doi.org/10.1186/s13229-018-0200-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863811PMC
October 2018
13 Reads

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

Ann Clin Transl Neurol 2018 03 31;5(3):323-332. Epub 2018 Jan 31.

Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts 02115.

Objective: To measure the efficacy of mecasermin (recombinant human insulin-like growth factor 1, rhIGF-1), for treating symptoms of Rett syndrome (RTT) in a pediatric population using a double-blind crossover study design.

Methods: Thirty girls with classic RTT in postregression stage were randomly assigned to placebo or rhIGF-1 in treatment period 1 and crossed over to the opposite assignment for period 2 (both 20 weeks), separated by a 28-week washout period. The primary endpoints were as follows: Anxiety Depression and Mood Scale (ADAMS) Social Avoidance subscale, Rett Syndrome Behaviour Questionnaire (RSBQ) Fear/Anxiety subscale, Parent Target Symptom Visual Analog Scale (PTSVAS) top three concerns, Clinical Global Impression (CGI), Parent Global Impression (PGI), and the Kerr severity scale. Read More

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http://doi.wiley.com/10.1002/acn3.533
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http://dx.doi.org/10.1002/acn3.533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846450PMC
March 2018
12 Reads

Late-onset hydrocephalus in a child with Joubert syndrome: a case report.

Childs Nerv Syst 2018 Jul 5;34(7):1423-1425. Epub 2018 Mar 5.

Department of Neurosurgery, University Clinic of Leipzig, Liebigstr. 20, 04109, Leipzig, Germany.

Introduction: The ciliopathy "Joubert syndrome" was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and retardation. Read More

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http://dx.doi.org/10.1007/s00381-018-3767-0DOI Listing
July 2018
4 Reads

Ventilatory Responses During Submaximal Exercise in Children With Prader-Willi Syndrome.

Pediatr Exerc Sci 2018 08 27;30(3):411-417. Epub 2018 Feb 27.

1 California State University, Fullerton.

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. Read More

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http://dx.doi.org/10.1123/pes.2017-0112DOI Listing
August 2018
3 Reads

Brief ethanol exposure and stress-related factors disorganize neonatal breathing plasticity during the brain growth spurt period in the rat.

Psychopharmacology (Berl) 2018 04 21;235(4):983-998. Epub 2018 Feb 21.

Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET-Universidad Nacional de Córdoba, Friuli 2434, 5016, Córdoba, Argentina.

Rationale: The effects of early ethanol exposure upon neonatal respiratory plasticity have received progressive attention given a multifactorial perspective related with sudden infant death syndrome or hypoxia-associated syndromes. The present preclinical study was performed in 3-9-day-old pups, a stage in development characterized by a brain growth spurt that partially overlaps with the 3rd human gestational trimester.

Methods: Breathing frequencies and apneas were examined in pups receiving vehicle or a relatively moderate ethanol dose (2. Read More

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http://dx.doi.org/10.1007/s00213-017-4815-2DOI Listing
April 2018
2 Reads

Dexmedetomidine-treated hyperventilation syndrome triggered by the distress related with a urinary catheter after general anesthesia: a case report.

JA Clin Rep 2017 8;3(1):22. Epub 2017 May 8.

Department of Anesthesiology, Hirosaki University Graduate School of Medicine, Zaifu-cho 5, Hirosaki, 036-8562 Japan.

Background: Hyperventilation syndrome (HVS) sometimes occurs in patients under stressful conditions and may provoke severe complications such as myocardial infarction and death. The authors report a case of HVS following general anesthesia, where a continuous intravenous infusion of dexmedetomidine was effective for HVS.

Case Presentation: A 23-year-old male patient with recurrent tongue cancer was scheduled to undergo partial glossectomy and neck dissection. Read More

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http://dx.doi.org/10.1186/s40981-017-0101-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804608PMC
May 2017
6 Reads

Preoperatively reduced cerebrovascular contractile reactivity to hypocapnia by hyperventilation is associated with cerebral hyperperfusion syndrome after arterial bypass surgery for adult patients with cerebral misery perfusion due to ischemic moyamoya disease.

J Cereb Blood Flow Metab 2018 Jun 31;38(6):1021-1031. Epub 2018 Jan 31.

1 Department of Neurosurgery, School of Medicine, Iwate Medical University, Morioka, Japan.

The present study examined whether preoperatively reduced cerebrovascular contractile reactivity to hypocapnia by hyperventilation is associated with development of cerebral hyperperfusion syndrome after arterial bypass surgery for adult patients with cerebral misery perfusion due to ischemic moyamoya disease. Among 65 adult patients with ischemic moyamoya disease, 19 had misery perfusion in the precentral region on preoperative O positron emission tomography and underwent arterial bypass surgery for that region. Brain technetium-99 m-labeled ethyl cysteinate dimer single-photon emission computed tomography (SPECT) was preoperatively performed with and without hyperventilation challenge and relative cerebrovascular contractile reactivity to hypocapnia (RCVCR) (%/mmHg) was calculated in the precentral region. Read More

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http://dx.doi.org/10.1177/0271678X18757621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999000PMC
June 2018
5 Reads

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

J Child Neurol 2018 03 10;33(3):233-244. Epub 2018 Jan 10.

1 University of Texas Southwestern Medical School, Dallas, TX, USA.

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Read More

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http://journals.sagepub.com/doi/10.1177/0883073817750490
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http://dx.doi.org/10.1177/0883073817750490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5922265PMC
March 2018
9 Reads
1.670 Impact Factor

Hyperventilation and breath-holding test with indocyanine green kinetics predicts cerebral hyperperfusion after carotid artery stenting.

J Cereb Blood Flow Metab 2017 Jan 1:271678X17743878. Epub 2017 Jan 1.

1 Department of Neurosurgery, 12967 Nara Medical University , Nara, Japan.

Cerebral hyperperfusion syndrome (CHS) is a serious complication following carotid artery stenting (CAS), but definitive early prediction of CHS has not been established. Here, we evaluated whether indocyanine green kinetics and near-infrared spectroscopy (ICG-NIRS) with hyperventilation (HV) and the breath-holding (BH) test can predict hyperperfusion phenomenon after CAS. The blood flow index (BFI) ratio during HV and BH was prospectively monitored using ICG-NIRS in 66 patients scheduled to undergo CAS. Read More

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http://dx.doi.org/10.1177/0271678X17743878DOI Listing
January 2017
7 Reads

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Metab Brain Dis 2018 02 7;33(1):191-199. Epub 2017 Nov 7.

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730, Warsaw, Poland.

Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. Read More

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http://dx.doi.org/10.1007/s11011-017-0122-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769826PMC
February 2018
24 Reads

Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome.

Neurologist 2017 Nov;22(6):234-236

2nd Neurology Department, AHEPA University Hospital, Thessaloniki, Greece.

X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropathy. It is established that patients suffering from CMT 1X can have episodes of hemiparesis, paraparesis, quadriparesis, ataxia, aphasia, and dysarthria, which can be fully reversible, and 'trigger' factors for these episodes are usually febrile illness, high altitudes, hyperventilation, and physical activity. We describe a 22-year-old patient with a history of viral infection and sleep deprivation who presented to our department because of acute difficulty in walking and neurophysiological findings suggesting Guillain-Barre syndrome. Read More

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http://dx.doi.org/10.1097/NRL.0000000000000143DOI Listing
November 2017
17 Reads

Hyperventilation-athetosis in deficiency (Bainbridge-Ropers) syndrome.

Neurol Genet 2017 Oct 22;3(5):e189. Epub 2017 Sep 22.

Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad, Pakistan; Program in Genetics and Genome Biology (R.D.) and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children, Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Department of Neurolgy (S.Y.K.), Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Gyeonggi-do, Republic of Korea; Program in Genetics and Genome Biology (B.A.M.), Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; and Departments of Pediatrics, Neurology, and Neurotherapeutics (B.A.M.), University of Texas Southwestern, Dallas.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5610043PMC
October 2017
18 Reads

Emergency Neurological Life Support: Resuscitation Following Cardiac Arrest.

Neurocrit Care 2017 Sep;27(Suppl 1):134-143

Department of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Cardiac arrest is the most common cause of death in North America. An organized bundle of neurocritical care interventions can improve chances of survival and neurological recovery in patients who are successfully resuscitated from cardiac arrest. Therefore, resuscitation following cardiac arrest was chosen as an Emergency Neurological Life Support protocol. Read More

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http://dx.doi.org/10.1007/s12028-017-0457-9DOI Listing
September 2017
9 Reads

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

Eur J Med Genet 2017 Nov 12;60(11):565-571. Epub 2017 Aug 12.

Institute of Genomic Medicine, Hospital A. Gemelli Foundation, Catholic University, Rome, Italy. Electronic address:

Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Read More

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http://dx.doi.org/10.1016/j.ejmg.2017.08.004DOI Listing
November 2017
8 Reads

Fibromyalgia as a cause of uncontrolled asthma: a case-control multicenter study.

Curr Med Res Opin 2017 12 11;33(12):2181-2186. Epub 2017 Aug 11.

b Hospital de la Santa Creu i Sant Pau , Barcelona , Spain.

Background: Fibromyalgia can affect the control of asthma when both diseases are present in a single patient.

Objectives: To characterize asthma in patients with concomitant fibromyalgia to assess whether fibromyalgia is an independent factor of asthma severity that influences poor asthma control. We also evaluated how dyspnea is perceived by patients in order to demonstrate that alterations in the perception of airway obstruction may be responsible for poor asthma control. Read More

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http://dx.doi.org/10.1080/03007995.2017.1354828DOI Listing
December 2017
39 Reads

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Am J Med Genet A 2017 Sep 20;173(9):2451-2455. Epub 2017 Jun 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11. Read More

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http://dx.doi.org/10.1002/ajmg.a.38315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561000PMC
September 2017
33 Reads

Brief mindfulness training de-couples the anxiogenic effects of distress intolerance on reactivity to and recovery from stress among deprived smokers.

Behav Res Ther 2017 Aug 2;95:117-127. Epub 2017 Jun 2.

Department of Psychology, University of Haifa, Israel. Electronic address:

Objective: We tested whether mindfulness de-couples the expected anxiogenic effects of distress intolerance on psychological and physiological reactivity to and recovery from an anxiogenic stressor among participants experimentally sensitized to experience distress.

Method: N = 104 daily smokers underwent 18-hours of biochemically-verified smoking deprivation. Participants were then randomized to a 7-min analogue mindfulness intervention (present moment attention and awareness training; PMAA) or a cope-as-usual control condition; and subsequently exposed to a 2. Read More

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http://dx.doi.org/10.1016/j.brat.2017.05.017DOI Listing
August 2017
12 Reads

Respiratory alkalosis may impair the production of vitamin D and lead to significant morbidity, including the fibromyalgia syndrome.

Med Hypotheses 2017 May 8;102:99-101. Epub 2017 Mar 8.

Department of Clinical Nutrition, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.

Hyperventilation caused by physical and/or psychological stress may lead to significant respiratory alkalosis and an elevated systemic pH. The alkalotic pH may in turn suppress the normal renal release of phosphate into the urine, thereby interrupting the endogenous production of 1,25-dihydroxyvitamin D (calcitriol). This could cause a shortfall in its normal production, leading to a variety of adverse consequences. Read More

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http://dx.doi.org/10.1016/j.mehy.2017.03.013DOI Listing
May 2017
26 Reads

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.

J Neurodev Disord 2017 28;9:15. Epub 2017 Apr 28.

Telethon Kids Institute, The University of Western Australia, PO Box 855, West Perth, WA 6872 Australia.

Background: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. Read More

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http://dx.doi.org/10.1186/s11689-017-9196-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5410057PMC
April 2017
13 Reads

Efficacy and safety of a video-EEG protocol for genetic generalized epilepsies.

Epilepsy Behav 2017 05 18;70(Pt A):187-192. Epub 2017 Apr 18.

Unidade de Pesquisa e Tratamento das Epilepsias (UNIPETE), Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, SP, Brazil.

Introduction: Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. Read More

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http://dx.doi.org/10.1016/j.yebeh.2017.03.029DOI Listing
May 2017
12 Reads

Investigating hyperventilation syndrome in patients suffering from empty nose syndrome.

Laryngoscope 2017 09 13;127(9):1983-1988. Epub 2017 Apr 13.

Department of Otorhinolaryngology and Facial Cervical Surgery, Intercommunal Hospital Center of Créteil, Créteil, France.

Objectives/hypothesis: Patients with empty nose syndrome (ENS) following turbinate surgery often complain about breathing difficulties. We set out to determine if dyspnea in patients with ENS was associated with hyperventilation syndrome (HVS). We hypothesized that lower airway symptoms in ENS could be explained by HVS. Read More

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http://dx.doi.org/10.1002/lary.26599DOI Listing
September 2017
16 Reads

Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome.

Pediatr Neurol 2017 05 17;70:61-66. Epub 2017 Jan 17.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Background: Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.010DOI Listing
May 2017
9 Reads

Hypocapnic hypothesis of Leigh disease.

Authors:
Ewa Pronicka

Med Hypotheses 2017 Apr 1;101:23-27. Epub 2017 Feb 1.

The Children's Memorial Health Institute, Department of Pediatrics, Nutrition and Metabolic Diseases, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address:

Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis. ATP deprivation, free radicals and lactate accumulation are suspected to be the causes. Read More

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http://dx.doi.org/10.1016/j.mehy.2017.01.016DOI Listing
April 2017
9 Reads

Altered Intermittent Rhythmic Delta and Theta Activity in the Electroencephalographies of High Functioning Adult Patients with Autism Spectrum Disorder.

Front Hum Neurosci 2017 20;11:66. Epub 2017 Feb 20.

Section for Experimental Neuropsychiatry, Department for Psychiatry and Psychotherapy, University Medical Center Freiburg, University of Freiburg Freiburg, Germany.

: Autism spectrum disorder (ASD) is often associated with epilepsy. Previous studies have also shown increased rates of electroencephalographic (EEG) alteration in ASD patients without epilepsy. The aim of this study was to compare the rate of intermittent rhythmic delta and theta activity (IRDA/IRTA) events between high-functioning adult patients with ASD and matched healthy controls. Read More

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http://dx.doi.org/10.3389/fnhum.2017.00066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316544PMC
February 2017
13 Reads

An adapted walking intervention for a child with Pitt Hopkins syndrome.

Disabil Rehabil Assist Technol 2018 01 26;13(1):25-30. Epub 2017 Jan 26.

a Department of Human Kinetics , St. Francis Xavier University , Antigonish , NS , Canada.

Purpose: To investigate the effects of a community-based adapted walking intervention on a child with Pitt Hopkins syndrome (PTHS).

Methods: A four-year old boy with PTHS participated in a 12-week intervention comprising five one-hour long walking sessions per week at a local daycare. Walking sessions used the Upsee mobility device (Firefly by Leckey Ltd. Read More

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http://dx.doi.org/10.1080/17483107.2016.1278469DOI Listing
January 2018
4 Reads

Hyperventilation syndrome after general anesthesia: Our experience.

J Anaesthesiol Clin Pharmacol 2016 Oct-Dec;32(4):536-537

Department of Anaesthesiology and Critical Care, Pt. B. D. Sharma University of Health Sciences, Rohtak, Haryana, India.

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http://dx.doi.org/10.4103/0970-9185.168192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187629PMC
January 2017
6 Reads

Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report.

BMC Pediatr 2016 11 29;16(1):194. Epub 2016 Nov 29.

Department of Child Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Background: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT. The prototypical beta blocker propranolol has been used to manage sympathetic hyperactivity in patients with RTT. Read More

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http://dx.doi.org/10.1186/s12887-016-0734-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129599PMC
November 2016
3 Reads

[Which treatments for the hyperventilation syndrome in adults?]

Rev Mal Respir 2017 Feb 12;34(2):93-101. Epub 2016 Oct 12.

Service de médecine physique et de réadaptation, CHU de Reims, hôpital Sébastopol, 48, rue de Sébastopol, 51100 Reims, France.

The hyperventilation syndrome is a complex entity whose management is poorly codified. We report a synthesis about the management of adult patients diagnosed with hyperventilation syndrome. A systematic literature review has identified fifteen articles dealing, among them three studies about drug treatment and the others about non-pharmacological approaches. Read More

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http://dx.doi.org/10.1016/j.rmr.2016.07.005DOI Listing
February 2017
6 Reads

Hypophosphatemia in Users of Cannabis.

Authors:
Peter E Cadman

Am J Kidney Dis 2017 Jan 28;69(1):152-155. Epub 2016 Sep 28.

Divisions of Nephrology-Hypertension and Hospital Medicine, Department of Medicine, University of California, San Diego, San Diego, CA. Electronic address:

As cannabis use has legalized for medical and recreational use in several states, the medical community has become more aware of the drug's potential toxicities. First described in 2004, cannabinoid hyperemesis syndrome is increasingly recognized as a cause of hospitalization among drug users. However, little information is available in the medical literature regarding electrolyte abnormalities in this syndrome. Read More

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http://dx.doi.org/10.1053/j.ajkd.2016.06.028DOI Listing
January 2017
33 Reads