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Future Cardiol 2022 Jun 6. Epub 2022 Jun 6.

Cardiovascular Research Team, Université des Antilles, Fort de France, EA, 7525, France.

To analyze the impact of obesity on cardiopulmonary response to exercise in people with chronic post-coronavirus disease 2019 (COVID-19) syndrome. Consecutive subjects with chronic post-COVID syndrome 6 months after nonsevere acute infection were included. All patients received a complete clinical evaluation, lung function tests and cardiopulmonary exercise testing. Read More

Pediatr Neurosurg 2022 May 31. Epub 2022 May 31.

Introduction: Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation.

Case Presentation: A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Read More

J Neurol 2022 May 20. Epub 2022 May 20.

German Center for Vertigo and Balance Disorders, Ludwig-Maximilians-Universität München, Marchioninistrasse 15, 81377, Munich, Germany.

In 2016, the Bárány Society defined new diagnostic criteria for the neurovascular compression syndrome of the eighth nerve, called "vestibular paroxysmia" (VP), differentiating between definite (dVP) and probable (pVP) forms. The aim of this study was (1) to describe clinical symptoms and laboratory findings in a well-diagnosed large patient cohort according to those criteria, and (2) to evaluate the long-term course over years in dVP. We identified 146 patients (73 dVP, 73 pVP) from our tertiary dizziness center registry. Read More

Elife 2022 May 10;11. Epub 2022 May 10.

Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by monoallelic mutation or deletion in the () gene. Individuals with PTHS typically present in the first year of life with developmental delay and exhibit intellectual disability, lack of speech, and motor incoordination. There are no effective treatments available for PTHS, but the root cause of the disorder, haploinsufficiency, suggests that it could be treated by normalizing gene expression. Read More

Nat Commun 2022 05 2;13(1):2387. Epub 2022 May 2.

Department of Pediatrics, School of Medicine, University of California San Diego, La Jolla, CA, 92093, USA.

Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the human neural tissue is poorly understood. Here, we derive neural progenitor cells, neurons, and brain organoids from skin fibroblasts obtained from children with Pitt-Hopkins Syndrome carrying clinically relevant mutations in TCF4. Read More

Pediatr Int 2022 01;64(1):e15180

Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Japan.

Brain Dev 2022 Aug 9;44(7):469-473. Epub 2022 Apr 9.

Department of Paediatrics, Mater dei Hospital, Msida, Malta. Electronic address:

Background: De novo mutations in the GABBR2 (Gamma-Aminobutyric acid Type B Receptor Subunit 2) gene have recently been reported to be associated with a form of early-infantile epileptic encephalopathy (EIEE59; OMIM# 617904), as well as a Rett syndrome (RTT)-like disorder defined as a neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS; OMIM# 617903).

Methods: We describe a pediatric case carrying a de novo GABBR2 pathogenic variant and showing a phenotype encompassing RTT, epilepsy, generalized hypotonia with a paroxysmal limb dystonia.

Results: A 11-year-old girl, born to non-consanguineous parents after an uneventful pregnancy, had developmental delay and generalized hypotonia. Read More

BMJ Open Respir Res 2022 03;9(1)

Service de pneumologie, Hôpital de Sion Centre Hospitalier du Valais Romand, Sion, Switzerland.

Background: 'Long COVID'-associated dyspnoea may persist for months after SARS-CoV-2 infection. Among the causes of persistent dyspnoea, dysfunctional breathing (DB), defined as an erratic or inappropriate ventilation at rest or exercise, has been observed, but little is known about its occurrence and pathophysiology among individuals with 'long COVID'. We aimed to describe the occurrence and identify clinical predictors of DB among patients following SARS-CoV-2 infection. Read More

Medicina (Kaunas) 2022 Mar 12;58(3). Epub 2022 Mar 12.

Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.

Dyspnea, shortness of breath, and chest pain are frequent symptoms of post-COVID syndrome (PCS). These symptoms are unrelated to organ damage in most patients after mild acute COVID infection. Hyperventilation has been identified as a cause of exercise-induced dyspnea in PCS. Read More

PLoS One 2022 23;17(3):e0265607. Epub 2022 Mar 23.

Department of Cardiology, Christchurch Hospital, Christchurch, New Zealand.

Objectives: The most perfect example of the mind-body interaction in all of medicine is provided by stress cardiomyopathy. In stress cardiomyopathy, what is initially a purely emotional event may become rapidly fatal. Prolongation of the QT interval is a cardinal feature of the condition, but the mechanism of the prolongation is unknown. Read More

Front Cardiovasc Med 2022 24;9:800720. Epub 2022 Feb 24.

Department of Anaesthesiology and Pain Medicine, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.

Introduction: In patients with chronic coronary syndromes, hyperventilation followed by apnea has been shown to unmask myocardium susceptible to inducible deoxygenation. The aim of this study was to assess whether such a provoked response is co-localized with myocardial dysfunction.

Methods: A group of twenty-six CAD patients with a defined stenosis (quantitative coronary angiography > 50%) underwent a cardiovascular magnetic resonance (CMR) exam prior to revascularization. Read More

Eur J Med Genet 2022 Apr 18;65(4):104458. Epub 2022 Feb 18.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France; Lyon Neuroscience Research Center, GENDEV Team, CNRS UMR 5292, INSERM U1028, UCBL1, Bron, France; Université Claude Bernard Lyon 1, France. Electronic address:

TCF4 gene (18q21.1) encodes for a transcription factor with multiple isoforms playing a critical role during neurodevelopment. Molecular alterations of this gene are associated with Pitt-Hopkins syndrome, a severe condition characterized by intellectual disability, specific facial features and autonomic nervous system dysfunction. Read More

Physiol Rep 2022 02;10(4):e15197

Department of Clinical Physiology in Linköping, and Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.

Reduced exercise capacity and several limiting symptoms during exercise have been reported following severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. From clinical observations, we hypothesized that an abnormal breathing pattern (BrP) during exercise may be common in these patients and related to reduced exercise capacity. We aimed to (a) evaluate a method to classify the BrP as normal/abnormal or borderline in terms of inter-rater agreement; (b) determine the occurrence of an abnormal BrP in patients with post-COVID; and (c) compare characteristics of post-COVID patients with normal and abnormal BrP. Read More

BMC Neurol 2022 Feb 16;22(1):60. Epub 2022 Feb 16.

Department of Pediatrics, Division of Child Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Background: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. Read More

Clin Kidney J 2022 Jan 7;15(1):165-167. Epub 2021 Sep 7.

Department of Internal Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.

Dialysis disequilibrium syndrome (DDS) is a rare complication of dialysis, especially with the general application of preventive strategies. Severe DDS with brain herniation is believed to be fatal. We present a patient presenting with bilateral uncal herniation after receiving two dialysis sessions with low-efficiency settings. Read More

Ann Neurol 2022 03 18;91(3):367-379. Epub 2022 Jan 18.

Department of Neurology, Brigham and Women's Hospital, Boston, MA.

Objective: The purpose of this study was to describe cerebrovascular, neuropathic, and autonomic features of post-acute sequelae of coronavirus disease 2019 ((COVID-19) PASC).

Methods: This retrospective study evaluated consecutive patients with chronic fatigue, brain fog, and orthostatic intolerance consistent with PASC. Controls included patients with postural tachycardia syndrome (POTS) and healthy participants. Read More

J Breath Res 2021 12 8;16(1). Epub 2021 Dec 8.

Abilities Research Center, Department of Rehabilitation and Human Performance, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.

FASEB J 2021 12;35(12):e22039

Institute of Physiology, University of Zurich, Zurich, Switzerland.

OTUB1 is one of the most highly expressed deubiquitinases, counter-regulating the two most abundant ubiquitin chain types. OTUB1 expression is linked to the development and progression of lung cancer and idiopathic pulmonary fibrosis in humans. However, the physiological function of OTUB1 is unknown. Read More

BMJ 2021 11 8;375:n2360. Epub 2021 Nov 8.

Royal Brompton and Harefield Hospital, Guys & St Thomas' NHS Foundation Trust, London SW3 6NP, UK.

J Biol Chem 2021 12 6;297(6):101381. Epub 2021 Nov 6.

Department of Chemistry and Biotechnology, Tallinn University of Technology, Tallinn, Estonia; Protobios LLC, Tallinn, Estonia. Electronic address:

Transcription factor 4 (TCF4) is a basic helix-loop-helix transcription factor essential for neurocognitive development. The aberrations in TCF4 are associated with neurodevelopmental disorders including schizophrenia, intellectual disability, and Pitt-Hopkins syndrome, an autism-spectrum disorder characterized by developmental delay. Several disease-associated missense mutations in TCF4 have been shown to interfere with TCF4 function, but for many mutations, the impact remains undefined. Read More

Eur Respir J 2022 Jun 16;59(6). Epub 2022 Jun 16.

University of California, San Diego, La Jolla, CA, USA.

Pulmonary arterial hypertension (PAH) is a rare dyspnoea-fatigue syndrome caused by a progressive increase in pulmonary vascular resistance and eventual right ventricular (RV) failure. In spite of extensive pulmonary vascular remodelling, lung function in PAH is generally well preserved, with hyperventilation and increased physiological dead space, but minimal changes in lung mechanics and only mild to moderate hypoxaemia and hypocapnia. Hypoxaemia is mainly caused by a low mixed venous oxygen tension from a decreased cardiac output. Read More

Intern Med 2022 Jun 26;61(11):1699-1706. Epub 2021 Oct 26.

Division of General Medicine, Center for Community Medicine, Jichi Medical University School of Medicine, Japan.

Objective The prognosis differs considerably between patients with psychogenic hyperventilation syndrome (HVS) and those with urinary tract infection (UTI)-associated sepsis; however, the nonspecific symptoms and signs make the diagnosis and management difficult. We herein report the utility of a blood gas analysis for distinguishing HVS from UTI with suspected sepsis. Methods This single-center retrospective cohort study was conducted in a tertiary-care hospital in Japan. Read More

Respir Med 2021 Nov-Dec;189:106648. Epub 2021 Oct 13.

Cabinet Resp'Air, 33400, Talence, France; Université Paris-Saclay, UVSQ, ERPHAN, 78000, Versailles, France.

Background: Growing consideration is emerging regarding the burden of persisting sequelae after SARS-CoV-2 infection. Out-patients exhibiting long Covid may benefit from ambulatory rehabilitation which is, to date, poorly documented.

Methods: A longitudinal follow-up over a one-year period was conducted in two ambulatory rehabilitation structures in order to describe the characteristics of real-life patients referred with Covid-19 sequelae and their evolution over the course of rehabilitation. Read More

Otolaryngol Head Neck Surg 2021 Oct 19:1945998211052919. Epub 2021 Oct 19.

Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.

Objective: The pathophysiology of empty nose syndrome (ENS) remains unclear despite significant research. The pathophysiologic mechanism of ENS was systematically reviewed.

Data Sources: MEDLINE and Embase. Read More

Nat Commun 2021 10 13;12(1):5962. Epub 2021 Oct 13.

Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT, USA.

Pitt-Hopkins syndrome (PTHS) is a rare autism spectrum-like disorder characterized by intellectual disability, developmental delays, and breathing problems involving episodes of hyperventilation followed by apnea. PTHS is caused by functional haploinsufficiency of the gene encoding transcription factor 4 (Tcf4). Despite the severity of this disease, mechanisms contributing to PTHS behavioral abnormalities are not well understood. Read More

J Int Med Res 2021 Sep;49(9):3000605211044201

Department of Anesthesiology and Pain Medicine, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Malignant hyperthermia (MH) is a potentially fatal hypermetabolic syndrome that occurs when susceptible individuals are exposed to triggering agents. Variability in the order and time of occurrence of symptoms often makes clinical diagnosis difficult. A late diagnosis or misdiagnosis of delayed-onset MH may lead to fatal complications. Read More

Brain Dev 2022 Feb 24;44(2):148-152. Epub 2021 Sep 24.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

Introduction: Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by mutations in TCF4. Seizures have been found to vary among patients with PTHS. We report the case of a PTHS patient with a novel missense mutation in the gene TCF4, presenting with two types of early epileptic encephalopathy. Read More

Physiol Rep 2021 09;9(18):e15034

Department of Neuroscience, Imaging and Clinical Sciences, University "d'Annunzio" Chieti-Pescara, Chieti, Italy.

In the history of diagnostics, breath analysis was one of the first method used until the breakthrough of biochemical testing technology. Today, breath analysis has made a comeback with the development of gas analyzers and e-noses, demonstrating its power in its applicability for diagnosing a wide range of diseases. The physical basis of multiple chemical sensitivity (MCS), an emerging environmental disease, is difficult to understand because it is based on the scenario of chronic hypoxia, with a complex of chemical compounds that trigger the syndrome and result in multiple symptoms. Read More

Eur J Neurol 2022 01 7;29(1):19-25. Epub 2021 Oct 7.

Department of Paediatrics, University of Perugia, Perugia, Italy.

Background And Purpose: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This study aims to analyse the electroclinical phenotype, treatment options, and long-term outcomes of epilepsy in PTHS. Read More