Child ; Humans ; Facies ; Hyperventilation/genetics* ; Intellectual Disability/genetics* ; Mutation ; Transcription Factor 4/genetics*

Respiration protocols have been developed to manipulate mental states, including their use for therapeutic purposes. In this systematic review, we discuss evidence that respiration may play a fundamental role in coordinating neural activity, behavior, and emotion. The main findings are: (1) respiration affects the neural activity of a wide variety of regions in the brain; (2) respiration modulates different frequency ranges in the brain's dynamics; (3) different respiration protocols (spontaneous, hyperventilation, slow or resonance respiration) yield different neural and mental effects; and (4) the effects of respiration on the brain are related to concurrent modulation of biochemical (oxygen delivery, pH) and physiological (cerebral blood flow, heart rate variability) variables. We conclude that respiration may be an integral rhythm of the brain's neural activity. This provides an intimate connection of respiration with neuro-mental features like emotion. A respiratory-neuro-mental connection holds the promise for a brain-based therapeutic usage of respiration in mental disorders.
Humans ; Respiration ; Brain ; Hyperventilation ; Heart Rate/physiology* ; Lung

OBJECTIVE: To explore the genetic etiology of a child featuring global developmental and mental retardation. METHODS: Chromosome G-banding karyotype analysis, copy number variation sequencing (CNV-seq) and high-resolution chromosome banding were used to screen the genomic variant in the child and his parents. RESULTS: Both the child and his father were found to have a karyotype of 46,XY,del(18)(q21.1q21.3), whilst his mother was 46,XX. CNV-seq analysis showed that the child was arr[19]18q21.2-q21.32(chr18:48 422 190-58 039 582)×1, with a 10.58 Mb deletion which encompassed the TCF4 gene. The same deletion was found in neither parent. High-resolution banding revealed that the father has a fragment of 18q21.1q21.3 inserted into 5p13.1. CONCLUSION The child was diagnosed with Pitt-Hopkins syndrome due to the 18q21.2q21.32 deletion. Chromosome karyotyping and CNV-seq can effectively identify submicroscopic chromosome anomalies.
Child ; Chromosome Banding ; Chromosome Deletion ; DNA Copy Number Variations ; Facies ; Humans ; Hyperventilation ; Intellectual Disability/genetics*

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. RESULTS: No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8. CONCLUSION The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; genetics ; DNA Copy Number Variations ; Developmental Disabilities ; genetics ; Facies ; Humans ; Hyperventilation ; genetics ; Intellectual Disability ; genetics ; Phenotype ; Transcription Factor 4 ; genetics

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. RESULTS: The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function. CONCLUSION The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.
Facies ; Genetic Testing ; Humans ; Hyperventilation/genetics* ; Intellectual Disability/genetics* ; Male ; Transcription Factor 4/genetics*

BACKGROUND AND PURPOSE: Electroencephalography (EEG) is often used as a screening tool for selecting pilots despite controversy regarding its contribution to aviation safety. We investigated EEG abnormalities in Korean commercial pilot applicants in order to identify the usefulness of EEG screening in this population. METHODS: We retrospectively analyzed the EEG results of 740 unselected pilot applicants who underwent waking EEG at Inha University Hospital from January 2013 to May 2017. EEG recording was performed for 30 minutes, which included 3 minutes of hyperventilation and intermittent photic stimulation. RESULTS: The pilot applicants were predominantly male (95.3%) and had a mean age of 27.8 years (range: 16–40 years). Nine of them (1.2%) exhibited EEG abnormalities; the most common abnormality (six applicants) was a small amount of generalized irregular slow activities, while the other three applicants (0.4%) exhibited epileptiform discharges, with two showing generalized spike-and-wave complexes and one showing a few spike-and-wave complexes in the left frontotemporal area. The two applicants with generalized spike-and-wave complexes were found to have experienced clinical seizures by a neurologist during detailed history-taking. CONCLUSIONS: This study found that 2 of 740 pilot applicants (0.3%) were diagnosed with epilepsy by routine EEG screening in an unselected population. Considering the low predictive value of EEG without the relevant clinical history in an unselected healthy young population, our findings raise questions regarding the cost-effectiveness of the current EEG screening protocol applied to pilot applicants. We suggest that a more-targeted and standardized EEG screening approach be applied to pilot applicants with epilepsy risk factors or a seizure history as determined by thorough medical history-taking.
Aviation ; Electroencephalography ; Epilepsy ; Humans ; Hyperventilation ; Korea* ; Male ; Mass Screening* ; Photic Stimulation ; Retrospective Studies ; Risk Factors ; Seizures

Magnetic resonance imaging (MRI) is recommended for patients with epileptic seizures to rule out an underlying focal lesion. However, abnormalities in idiopathic generalized epilepsy, including childhood absence epilepsy, cannot usually be identified using brain imaging modalities such as MRI. Peri-ictal MRI abnormalities have been most commonly reported secondary to status epilepticus and are rarely observed in patients with focal seizures and generalized tonic-clonic seizures. Transient peri-ictal MRI abnormalities in absence epilepsy are extremely rare. A five-year-old girl presented with a three-day history of absence seizures that persisted despite continued treatment with sodium valproate. Electroencephalography showed bursts of generalized 3-Hz spike-and-wave discharges, during and after hyperventilation. Abnormal cortex thickening in the left perisylvian region was detected on T2-weighted brain MRI, and cortical dysplasia or a tumor was suspected. The patient started treatment with lamotrigine and was seizure-free after one month. The abnormal MRI lesion was completely resolved at the two-month follow-up. We report on a patient with childhood absence epilepsy and reversible brain MRI abnormalities in the perisylvian region. To our knowledge, this is the first report of transient MRI abnormalities after absence seizures. Transient peri-ictal MRI abnormalities should be considered for differential diagnosis in patients with absence seizures and a focal abnormality on brain MRI.
Brain ; Diagnosis, Differential ; Electroencephalography ; Epilepsy ; Epilepsy, Absence* ; Epilepsy, Generalized ; Female ; Follow-Up Studies ; Humans ; Hyperventilation ; Magnetic Resonance Imaging* ; Malformations of Cortical Development ; Neuroimaging ; Seizures ; Status Epilepticus ; Valproic Acid

Viral encephalitis can lead to serious neurological sequelae and death among younger children. It is also known that the mortality rate in encephalitis with cerebral edema or transtentorial brain herniation is higher. A 4-year-old boy visited our emergency department exhibiting mental change. The patient had a high fever for four and a whole-body rash for three days prior to his visit. He had displayed irritable symptoms and been vomiting for six hours before his visit, accompanied by seizure. After 13 hours of admission, the patient's right pupil became fixed and fully dilated, and the left pupil also became fixed and fully dilated within 30 minutes. Brain computed tomography (CT) was performed immediately, and severe brain swelling with transtentorial brain herniation was found. The mannitol dose was increased and dexamethasone was also added. Hyperventilation was performed through intubation to reach PaCO₂ levels of 25 to 30mmHg. Fifteen hours later, pupillary reflex was observed and the cerebral edema and transtentorial brain herniation was found to be improving in follow-up brain CT. He was transferred to a general ward after 11 days and discharged on the thirteenth hospital day without any neurological sequelae. Human herpesvirus type 6 (HHV-6) was detected in the serological polymerase chain reaction (PCR) examination.
Brain ; Brain Edema* ; Child ; Child, Preschool ; Dexamethasone ; Emergency Service, Hospital ; Encephalitis* ; Encephalitis, Viral ; Exanthema ; Fever ; Follow-Up Studies ; Humans* ; Hyperventilation ; Intubation ; Male ; Mannitol ; Mortality ; Patient Rights ; Patients' Rooms ; Polymerase Chain Reaction ; Pupil ; Reflex, Pupillary ; Seizures ; Vomiting

A previously healthy, 3-year-old boy presented to the emergency department with an afebrile focal motor seizure. He was found crying and having a seizure 30 minutes earlier. During this seizure, he was jerking his head and right extremities. Subsequent magnetic resonance imaging showed acute infarction in the bilateral frontal lobes, chiefly in the left. After hospitalization, conventional angiography demonstrated bilateral stenosis of the distal internal carotid arteries with development of lenticulostriate collaterals, which confirmed the diagnosis of moyamoya disease. It is vital to recognize focal motor seizures and situations related to hyperventilation in children with a seizure, which imply a structural lesion and a provoked cerebral ischemia in preexisting moyamoya disease, respectively.
Angiography ; Brain Ischemia ; Carotid Artery, Internal ; Child ; Child, Preschool ; Constriction, Pathologic ; Crying ; Diagnosis ; Emergencies ; Emergency Service, Hospital ; Extremities ; Frontal Lobe ; Head ; Hospitalization ; Humans ; Hyperventilation ; Infarction ; Ischemia ; Magnetic Resonance Imaging ; Male ; Moyamoya Disease ; Seizures ; Stroke ; Vasoconstriction

Anti-programmed cell death-1 (PD-1) humanized monoclonal antibody inhibits PD-1 activity by binding to the PD-1 receptor on T-cells and blocking PD-1 ligands and induces immune tolerance of cancer cells. It has been widely used for various kinds of cancer treatment. However, many immune-related adverse events (irAEs) have been reported because it modulates our immune system. In this case study, we reported a case of 42-year-old woman with Hashimoto's thyroiditis who showed rapid aggravation of thyroid goiter and acute hyperventilation syndrome after treatment with PD-1 inhibitor as a neoadjuvant chemotherapy for breast cancer.
Adult ; Breast Neoplasms ; Breast ; Drug Therapy ; Female ; Goiter ; Humans ; Hyperventilation ; Immune System ; Immune Tolerance ; Ligands ; Programmed Cell Death 1 Receptor ; T-Lymphocytes ; Thyroid Gland ; Thyroiditis