Cargando…

Methods for Detecting Abnormal Ventilation in Children - the Case Study of 13-Years old Pitt-Hopkins Girl

We present contactless technology measuring abnormal ventilation and compare it with polysomnography (PSG). A 13-years old girl with Pitt-Hopkins syndrome presented hyperpnoea periods with apneic spells. The PSG was conducted simultaneously with Emfit movement sensor (Emfit, Finland) and video camer...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nokelainen, Pekka, Perez-Macias, Jose-Maria, Himanen, Sari-Leena, Hakala, Anna, Tenhunen, Mirja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944179/ https://www.ncbi.nlm.nih.gov/pubmed/36844470 http://dx.doi.org/10.1177/2329048X231151361

Ejemplares similares

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
por: Tripon, Florin, et al.
Publicado: (2020)

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless
por: Tamberg, Laura, et al.
Publicado: (2015)

A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes
por: Hong, Syuan-Yu, et al.
Publicado: (2016)

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
por: Mittal, Rea, et al.
Publicado: (2021)

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation
por: Taddeucci, Grazia, et al.
Publicado: (2010)

Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome
por: Aquino, Alessandro, et al.
Publicado: (2017)

The Fecal Microbiome and Metabolome of Pitt Hopkins Syndrome, a Severe Autism Spectrum Disorder
por: Dilmore, Amanda H., et al.
Publicado: (2021)

Evaluation of Na(v)1.8 as a therapeutic target for Pitt Hopkins Syndrome
por: Martinowich, Keri, et al.
Publicado: (2022)

Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription
por: Sweatt, J David
Publicado: (2013)

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
por: de Winter, Channa F., et al.
Publicado: (2016)

Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype
por: Comisi, Francesco, et al.
Publicado: (2023)

Description of a novel method for detection of sleep‐disordered breathing in brachycephalic dogs
por: Niinikoski, Iida, et al.
Publicado: (2023)

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
por: Watkins, Alice, et al.
Publicado: (2019)

Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports
por: Huang, Ying, et al.
Publicado: (2022)

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt–Hopkins syndrome
por: Bohlen, Joseph F, et al.
Publicado: (2023)

Prolonged partial upper airway obstruction during sleep – an underdiagnosed phenotype of sleep-disordered breathing
por: Anttalainen, Ulla, et al.
Publicado: (2016)

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
por: Sripathy, S.R., et al.
Publicado: (2020)

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia
por: Sirp, Alex, et al.
Publicado: (2021)

A Case Report of Topiramate for Severe Breath Holding Spells in a Teenage Boy with Pitt-Hopkins Syndrome
por: Bone, Megan, et al.
Publicado: (2022)

A myelin-related transcriptomic profile is shared between Pitt Hopkins syndrome models and human autism spectrum disorder
por: Phan, BaDoi N., et al.
Publicado: (2020)

Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression
por: Kim, Hyojin, et al.
Publicado: (2022)

Screening Sleep Disordered Breathing in Stroke Unit
por: Väyrynen, Kirsi, et al.
Publicado: (2014)

Brice Pitt—in memoriam
por: Cox, John
Publicado: (2021)

William H. Pitt
Publicado: (1909)

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome
por: Rannals, Matthew D., et al.
Publicado: (2016)

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome
por: Popp, Bernt, et al.
Publicado: (2022)

Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression
por: Cleary, C. M., et al.
Publicado: (2021)

Surgeon William Pitts Muston
Publicado: (1902)

Mr. Pitt's Case of Fracture
por: Pitt, Edward
Publicado: (1805)

Brice Pitt, MD, FRCPsych
por: Hilton, Claire
Publicado: (2021)

13-year-old Girl with Fevers
por: Cobb, Megan, et al.
Publicado: (2017)

Museum of Morbid Anatomy at Fort Pitt
por: Macloughlin, D.
Publicado: (1860)

Reports of Cases at Fort Pitt Hospital
por: Williamson, George
Publicado: (1859)

The PITT pathway: Keeping lysosomes young
por: Yang, Haoxiang, et al.
Publicado: (2022)

Evaluation of the INCREMENT-CPE, Pitt Bacteremia and qPitt Scores in Patients with Carbapenem-Resistant Enterobacteriaceae Infections Treated with Ceftazidime–Avibactam
por: Jorgensen, Sarah C. J., et al.
Publicado: (2020)

Endometrial adenocarcinoma in a 13-year-old girl
por: Kim, Sung Mee, et al.
Publicado: (2016)

Hopkins Syndrome in a 14 Year Old Boy; a Case Report
por: Majidi, Alireza, et al.
Publicado: (2018)

The “Hopkins” Jubilee
Publicado: (1939)

Granular Cell Tumor in a 13-Year-Old Girl
por: Fraser, Amy L, et al.
Publicado: (2021)

A 13-Year-Old Girl With Unilateral Visual Changes
por: Sykes, David A. W., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_okm6t6q12qepitlejuth0a3si6