Search Our Scientific Publications & Authors

Mol Syndromol 2021 Apr 11;12(2):101-105. Epub 2021 Jan 11.

Child Neurology Unit, Department of Pediatrics, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Abnormal breathing patterns are a typical feature of Rett and Pitt-Hopkins syndrome and their variants. Their treatment can be challenging, with a risk of long-term detrimental consequences. Early infantile epileptic encephalopathy (EIEE) type 54 is a rare epileptic encephalopathy caused by pathogenic variants in the heterogeneous nuclear ribonucleoprotein U () gene. Read More

Rev Mal Respir 2021 May 12. Epub 2021 May 12.

UMR 8129, ENS/EHESS/CNRS, IEC, PSL, institut Jean-Nicod, 29, rue d'Ulm, 75005 Paris, France; Service de psychiatrie adulte, groupe hospitalier Pitié-Salpêtrière, Sorbonne université, AP-HP, 75013 Paris, France.

The experience of living with asthma varies between patients. In some cases, the psychological experience can take a central place and determine the course of asthma. Asthmatic disease can be complicated by adaption disorders that hamper the treatment, or genuine anxiety and depressive disorders that require the intervention of mental health specialists. Read More

Transl Stroke Res 2021 May 6. Epub 2021 May 6.

Department of Neurosurgery, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan.

Cerebral hyperperfusion syndrome (CHS) is a serious complication following carotid artery stenting (CAS). Staged angioplasty (AP) could potentially prevent CHS and hyperperfusion phenomenon (HPP) after revascularization. However, methods for measuring the effects of staged AP on cerebral hemodynamic reserve have not been established. Read More

PLoS One 2021 6;16(5):e0251231. Epub 2021 May 6.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.

Background: Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and metabolome in RTT, predisposing these individuals to gastrointestinal dysfunction.

Objectives: We characterized the gut bacterial microbiome and metabolome in girls and young women with RTT (n = 44) and unaffected controls (n = 21), and examined the relation between the composition of the microbiome and variations in the RTT phenotype. Read More

Epileptic Disord 2021 Apr;23(2):313-324

Sree Chitra Tirunal Institute for Medical Sciences and Technology, Dept of Neurology, Thiruvananthapuram, Kerala, India.

Perioral myoclonia with absences (POMA) is not recognized as a unique electro-clinical syndrome and studies suggest its inclusion under the genetic generalized epilepsy (GGE) spectrum. The aim of this study was to explore the prevalence and electro-clinical homogeneity of this disorder in an epilepsy monitoring unit. Between 2013 and 2019, among drug-resistant epilepsy patients who were referred for video-telemetry, those diagnosed with POMA based on the presence of documented absences with prominently observed peri-oral muscular contractions accompanied by generalized EEG features were included. Read More

Actas Dermosifiliogr (Engl Ed) 2021 Mar 19. Epub 2021 Mar 19.

Servicio de Dermatología, Complejo Asistencial de Zamora, Zamora, España.

This article, part of a the series on safety in dermatologic procedures, covers the diagnosis, prevention, management, and treatment of 3 situations or conditions. The first condition we address is anaphylaxis, an uncommon but severe and potentially fatal reaction that must be recognized quickly so that urgent management coordinated with an anesthesiologist can commence. The second is the vasovagal reaction, which is the most common complication in dermatologic surgery. Read More

Kardiologiia 2021 Mar 6;61(2):62-68. Epub 2021 Mar 6.

International Heart Center, Saint Petersburg.

Aim      To determine diagnostic capabilities of the expanded protocol for stress echocardiography (stress-EchoCG) with comprehensive evaluation of clinical and echocardiographic indexes in differential diagnosis of dyspnea.Material and methods This study included 243 patients (123 women and 120 men) who were referred to outpatient stress-EchoCG during one calendar month. For 80 patients complaining about shortness of breath, the expanded stress-EchoCG protocol with treadmill exercise was performed. Read More

Cureus 2021 Jan 29;13(1):e12980. Epub 2021 Jan 29.

Cardiology, 7 Air Force Hospital, Kanpur, IND.

T-wave inversion in ECG is very frequent and concerning finding as it is often associated with life-threatening conditions. There are numerous conditions mentioned in the literature for transient T-wave inversion such as acute coronary syndrome, cardiac memory T-wave, subarachnoid hemorrhage, electroconvulsive therapy, hyperventilation and indeterminate origin. Hyperventilation is already known as a cause of transient T-wave inversion; however, it is often forgotten in modern clinical settings. Read More

Respir Med 2021 04 12;179:106329. Epub 2021 Feb 12.

Department of Pulmonology, Jolimont Hospital, 159 Rue Ferrer, 7100, La Louvière, Belgium.

Background: The hyperventilation syndrome (HVS) is characterized by somatic/ psychological symptoms due to sustained hypocapnia and respiratory alkalosis without any organic disease.

Objective: The purpose of this study was to compare ventilatory parameters and symptoms reproducibility during the hyperventilation provocation test (HVPT) and cardiopulmonary exercise test (CPET) as diagnostic tools in patients with HVS, and to identify the most frequent etiologies of the HVS by a systematic assessment.

Methods: After exclusion of organic causes, 59 patients with HVS according to Nijmegen's questionnaire (NQ) score ≥23 with associated hypocapnia (PaCO/PET<35 mm Hg) were studied. Read More

Am J Case Rep 2021 Feb 16;22:e929147. Epub 2021 Feb 16.

Mid-German Heart Center, Department of Cardiology, Angiology and Critical Care Medicine, University Hospital Halle (Saale), Halle (Salle), Germany.

BACKGROUND Clozapine is a well-proven atypical antipsychotic drug used for therapy of treatment-resistant schizophrenia. Over the last decades only a few cases of clozapine poisoning have been reported. Hence, guidelines for in-hospital management are currently not available. Read More

Front Physiol 2020 27;11:620955. Epub 2021 Jan 27.

Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom.

Dysfunctional breathing (DB) is a disabling condition which affects the biomechanical breathing pattern and is challenging to diagnose. It affects individuals in many circumstances, including those without underlying disease who may even be athletic in nature. DB can also aggravate the symptoms of those with established heart or lung conditions. Read More

Front Physiol 2020 18;11:614590. Epub 2021 Jan 18.

Service de Physiologie-Explorations Fonctionnelles, FHU APOLLO, Assistance Publique Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France.

Since the outbreak of the coronavirus (COVID-19) pandemic, most attention has focused on containing transmission and addressing the surge of critically ill patients in acute care settings. As we enter the second phase of the pandemic, emphasis must evolve to post-acute care of COVID-19 survivors. Persisting cardiorespiratory symptoms have been reported at several months after the onset of the infection. Read More

Cureus 2020 Dec 25;12(12):e12273. Epub 2020 Dec 25.

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

Background Patients with psychogenic hyperventilation frequently visit emergency departments (EDs). Arterial blood gas (ABG) analysis is performed to evaluate patients with dyspnea. This may show respiratory alkalosis in patients with hyperventilation. Read More

Hypertension 2021 Mar 25;77(3):1001-1009. Epub 2021 Jan 25.

Vanderbilt Autonomic Dysfunction Center, Division of Clinical Pharmacology, Department of Medicine (A.W., J.C., V.N., E.C.S., E.M.G., S.P., L.E.O., B.K.B., I.B., A.G.), Vanderbilt University Medical Center, Nashville, TN.

The purpose of this study is to evaluate endothelial function in postural tachycardia syndrome (PoTS), a poorly understood chronic condition characterized by a state of consistent orthostatic tachycardia (delta heart rate ≥30 beats per minute) upon standing without orthostatic hypotension. Nineteen patients with PoTS and 9 healthy controls were studied after 3 days of a fixed, caffeine-free, normal sodium (150 milliequivalents/day) diet. All participants underwent autonomic function testing, including sinus arrhythmia, valsalva maneuver, hyperventilation, cold pressor, handgrip, and a standing test with catecholamine measurements, followed by endothelial function testing. Read More

Diagnosis (Berl) 2021 Jan 18. Epub 2021 Jan 18.

Wolfville, NS, Canada.

We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica's diagnostic journey. Read More

BMC Psychol 2021 Jan 6;9(1). Epub 2021 Jan 6.

Pneumology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, CIBERES, Madrid, Spain.

Background: Severe asthma affects a small population but carries a high psychopathological risk. Therefore, the psychodemographic profile of these patients is of interest. A substantial prevalence of anxiety, depression, alexithymia and hyperventilation syndrome in severe asthma is known, but contradictory results have been observed. Read More

J Asthma 2021 Jan 25:1-15. Epub 2021 Jan 25.

Race Ready Coaching, Boulder, CO, USA.

While asthma and exercise-induced bronchoconstriction (EIB) can explain some cases of exertional dyspnea, the differential diagnosis of dyspnea is extensive. Dysfunctional breathing (DB) is a condition that is often overlooked and underdiagnosed. Pharmacologic treatments are available and widely utilized by clinicians for exertional dyspnea, but a better understanding of the non-pharmacologic treatments as well as psychological factors that play a role in DB can provide professional, elite amateurs, and recreational athletes with more therapeutic options. Read More

J Clin Med 2020 Dec 18;9(12). Epub 2020 Dec 18.

Department of Automatic Control Engineering, Feng Chia University, Taichung 40724, Taiwan.

Postural orthostatic tachycardia syndrome (POTS) typically occurs in youths, and early accurate POTS diagnosis is challenging. A recent hypothesis suggests that upright cognitive impairment in POTS occurs because reduced cerebral blood flow velocity (CBFV) and cerebrovascular response to carbon dioxide (CO) are nonlinear during transient changes in end-tidal CO (P). This novel study aimed to reveal the interaction between cerebral autoregulation and ventilatory control in POTS patients by using tilt table and hyperventilation to alter the CO tension between 10 and 30 mmHg. Read More

Pediatr Clin North Am 2021 02;68(1):223-237

Division of Pediatric Respiratory Medicine, Rady Children's Hospital, 3020 Children's Way, MC 5070, San Diego, CA 92123-4282, USA. Electronic address:

Functional respiratory disorders (FRDs) are those characterized by respiratory symptoms without anatomic or organic etiology. Clinicians caring for children encounter these disorders and should be familiar with diagnosis and treatment. FRDs encompass the habit cough syndrome and its variants, vocal cord dysfunction, hyperventilation disorders, functional dyspnea, and sighing syndrome. Read More

Eur J Med Genet 2021 Jan 18;64(1):104102. Epub 2020 Nov 18.

Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known genetic conditions, with a defined phenotype sharing some common characteristics like early-onset epilepsy and hyperventilation episodes. Read More

Front Neurol 2020 30;11:593554. Epub 2020 Oct 30.

Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, United States.

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by loss of function of the transcriptional regulator Methyl-CpG-Binding Protein 2 (MeCP2). In addition to the characteristic loss of hand function and spoken language after the first year of life, people with RTT also have a variety of physiological and autonomic abnormalities including disrupted breathing rhythms characterized by bouts of hyperventilation and an increased frequency of apnea. These breathing abnormalities, that likely involve alterations in both the circuitry underlying respiratory pace making and those underlying breathing response to environmental stimuli, may underlie the sudden unexpected death seen in a significant fraction of people with RTT. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Nov;37(11):1253-1256

Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.

Methods: Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing. Read More

Cerebellum 2020 Oct 21. Epub 2020 Oct 21.

Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.

Hyperventilation-induced downbeat nystagmus (HV-DBN) has been reported in cerebellar disorders and explained by a loss of the inhibitory cerebellar output via a metabolic effect on cerebellar Ca channels. The aim of this study was to determine the clinical characteristics and underlying pathogenesis of episodic vestibular syndrome (EVS) with HV-DBN. Of 667 patients with EVS, we recruited 22 with HV-DBN and assessed their clinical characteristics, video-oculographic findings, and the results of molecular genetic analyses. Read More

Arch Dis Child Educ Pract Ed 2021 04 19;106(2):66-70. Epub 2020 Oct 19.

Department of Respiratory Medicine, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.

Exertional dyspnoea among children and adolescents is a common presenting complaint to general practitioners. Exertional dyspnoea is most commonly attributed to exercise-induced bronchoconstriction (EIB), but there are several other causes including hyperventilation syndrome, breathlessness associated with normal exercise limitation and exercise-induced laryngeal obstruction (EILO). The symptoms of EILO include stridor, throat tightness and difficulty on inspiration. Read More

Eur J Med Genet 2020 Dec 15;63(12):104088. Epub 2020 Oct 15.

Research Centre for Medical Genetics, Moscow, Russia.

Pitt-Hopkins syndrome is a rare neurodevelopment disorder caused by haploinsufficiency of the transcription factor 4 (TCF4). The main clinical symptoms of Pitt-Hopkins syndrome are severe development delay, intellectual disability, characteristic facial phenotype, and breathing abnormalities, including episodic hyperventilation. Different pathogenic variants can lead to Pitt-Hopkins syndrome. Read More

Poult Sci 2020 Oct 3;99(10):4939-4946. Epub 2020 Jul 3.

Laboratory of Livestock Physiology, Department of Biosystems, KU Leuven, 3001 Leuven, Belgium. Electronic address:

This study aimed to induce spiking mortality syndrome (SMS) in 10-day-old broiler chicks by changing feed particle size (crumble feed to pellet feed) and/or feed source location (from a small feeder at the pen's center to a large feeder at the front of the pen), followed by full day feed deprivation of all broiler chicks on day 11. In total, 396-day-old male Ross 308 broiler chicks were randomly assigned to 4 treatments (Con: without change in feed particle size and feed source location; Par: changing crumble feed to pellet feed on day 10; Loc: changing feed source location on day 10; LocPar: changing both feed particle size and feed source location on day 10). Each treatment consisted of 9 replicate pens with 11 chicks each. Read More

Br J Neurosurg 2020 Sep 14:1-9. Epub 2020 Sep 14.

Department of Neurosurgery, Westchester Medical Center, Valhalla, NY, USA.

False localizing signs (FLS) and other misleading neurological signs have long been an intractable aspect of neurocritical care. Because they suggest an incorrect location or etiology of the pathological lesion, they have often led to misdiagnosis and mismanagement of the patient. Here, we reviewed the existing literature to provide an updated, comprehensive descriptive review of these difficult to diagnose signs in neurocritical care. Read More

Sleep Med 2020 09 11;73:125-129. Epub 2020 May 11.

Department of Vascular Ultrasonography, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China; Center of Vascular Ultrasonography, Beijing Institute of Brain Disorders, Beijing, 100053 China. Electronic address:

Objective: Impaired cerebrovascular reactivity (CVR) in patients with obstructive sleep apnea syndrome (OSAS) increases the risk of ischemic stroke. CVR also decreases with age in normal individuals. However, it is unclear whether OSAS affects CVR differently in young and old patients. Read More

Am J Med 2021 01 10;134(1):13-15. Epub 2020 Aug 10.

Clinical Professor Emeritus, Indiana University School of Medicine, Indianapolis, Ind. Electronic address:

Cerebellum 2020 Jul 31. Epub 2020 Jul 31.

Daroff-Dell'Osso Ocular Motility Laboratory, Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA.

Hyperventilation changes the extracellular pH modulating many central pathologies, such as tremor. The questions that remain unanswered are the following: (1) Hyperventilation modulates which aspects of the oscillations? (2) Whether the effects of hyperventilation are instantaneous and the recovery is rapid and complete? Here we study the effects of hyperventilation on eye oscillations in the syndrome of oculopalatal tremor (OPT), a disease model affecting the inferior olive and cerebellar system. These regions are commonly involved in the pathogenesis of many movement disorders. Read More