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  1. Article: Elevated transaminases in congenital central hypoventilation syndrome.

    Wang, Rachel Y / Wang, Victoria S / Keens, Thomas G / Chai, Yan / Soufi, Nisreen / Perez, Iris A

    ERJ open research

    2024  Volume 10, Issue 1

    Abstract: Patients with CCHS who also have Hirschsprung disease, elevated or low BMI, or pulmonary hypertension may be predisposed to elevated transaminases and may need periodic follow-up of their hepatic ... ...

    Abstract Patients with CCHS who also have Hirschsprung disease, elevated or low BMI, or pulmonary hypertension may be predisposed to elevated transaminases and may need periodic follow-up of their hepatic function
    Language English
    Publishing date 2024-02-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 2827830-6
    ISSN 2312-0541
    ISSN 2312-0541
    DOI 10.1183/23120541.00658-2023
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  2. Article ; Online: The positive impact of journaling on adolescents with cystic fibrosis.

    Kow, Sean / Rieger, Brenda / Morse, Kimberly / Keens, Thomas / Wu, Susan

    Pediatric pulmonology

    2023  Volume 59, Issue 1, Page(s) 63–71

    Abstract: Background: Individuals with cystic fibrosis (CF) often have psychological difficulties on top of their medically complex care, such as anxiety, depression, and medical mistrust. These have been shown to be associated with worse adherence, pulmonary ... ...

    Abstract Background: Individuals with cystic fibrosis (CF) often have psychological difficulties on top of their medically complex care, such as anxiety, depression, and medical mistrust. These have been shown to be associated with worse adherence, pulmonary function test results, and other health outcomes. In this pilot trial, we implemented a journaling program based on narrative therapy methodology to improve mental and physical health outcomes for individuals with CF.
    Methods: Eight adolescents aged 12-17 with a confirmed diagnosis of CF followed in a single center CF clinic were emailed weekly journaling prompts that explored topics like treatment adherence, feeling different with CF, anxiety, depression, and interpersonal relationships. Subjects completed surveys about their experience with the writing assignment and measures of wellness including the Pediatric Symptom Checklist (PSC-17) and baseline health data was collected from the electronic medical records.
    Results: The average score for the PSC-17 decreased by 5.5 points, and fell to less than 28 (mean 23.5, SD 12.2), which is the cutoff for screening positive for behavioral or emotional problems. Participants reported the study was enjoyable and had improvement in feelings of anxiety/depression. 100% of participants responded "Strongly Agree" to the statement "I recommend other people with CF to write about the topics from this study."
    Conclusions: The journaling intervention for individuals with CF was feasible and well received. Initial results show improvement in PSC-17 and other well-being measures. Further studies are needed to evaluate the impact of journaling on mental health and disease outcomes.
    MeSH term(s) Humans ; Adolescent ; Child ; Cystic Fibrosis ; Trust ; Depression/etiology ; Anxiety/etiology ; Mental Health ; Quality of Life
    Language English
    Publishing date 2023-09-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26708
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    Zs.A 2143: Show issues Location:
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  3. Article ; Online: Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

    Wo, Laura Lazzarini / Itani, Reem / Keens, Thomas G / Marachelian, Araz / Ji, Jianling / Perez, Iris A

    Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

    2023  Volume 19, Issue 6, Page(s) 1161–1164

    Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the : Citation: Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. Congenital central hypoventilation syndrome without hypoventilation: is it ...

    Abstract Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the
    Citation: Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
    MeSH term(s) Humans ; Homeodomain Proteins/genetics ; Hypoventilation/diagnosis ; Hypoventilation/genetics ; Hypoventilation/therapy ; Transcription Factors/genetics ; Mutation ; Sleep Apnea, Central/diagnosis ; Sleep Apnea, Central/genetics ; Sleep Apnea, Central/therapy
    Chemical Substances Homeodomain Proteins ; Transcription Factors
    Language English
    Publishing date 2023-01-25
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2397213-0
    ISSN 1550-9397 ; 1550-9389
    ISSN (online) 1550-9397
    ISSN 1550-9389
    DOI 10.5664/jcsm.10512
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  4. Article ; Online: When to panic about a panic attack: A challenging case of hypersensitivity pneumonitis.

    Hicks, Timothy D / Yousif, Deena / Perez, Iris A / Keens, Thomas G / Bansal, Manvi

    Paediatric respiratory reviews

    2023  Volume 48, Page(s) 20–23

    Abstract: The COVID-19 pandemic has created diagnostic difficulties with the increase in mental health illnesses that often present with nonspecific symptoms, like hypersensitivity pneumonitis. Hypersensitivity pneumonitis is a complex syndrome of varying triggers, ...

    Abstract The COVID-19 pandemic has created diagnostic difficulties with the increase in mental health illnesses that often present with nonspecific symptoms, like hypersensitivity pneumonitis. Hypersensitivity pneumonitis is a complex syndrome of varying triggers, onset, severity, and clinical manifestations that can be challenging to diagnose in many cases. Typical symptoms are nonspecific and can be attributed to other entities. There are no pediatric guidelines, which contributes to diagnostic difficulties and delays in treatment. It is particularly important to avoid diagnostic biases, have an index of suspicion for hypersensitivity pneumonitis, and to develop pediatric guidelines as outcomes are excellent when diagnosed and treated promptly. This article discusses hypersensitivity pneumonitis with a focus on the causes, pathogenesis, diagnostic approach, outcomes, and prognosis while using a case to illustrate the diagnostic difficulties worsened by the COVID-19 pandemic.
    MeSH term(s) Humans ; Child ; Panic Disorder/complications ; Pandemics ; Alveolitis, Extrinsic Allergic/diagnosis ; Alveolitis, Extrinsic Allergic/therapy ; Alveolitis, Extrinsic Allergic/epidemiology ; COVID-19/complications ; Prognosis
    Language English
    Publishing date 2023-05-09
    Publishing country England
    Document type Editorial
    ZDB-ID 2147664-0
    ISSN 1526-0550 ; 1526-0542
    ISSN (online) 1526-0550
    ISSN 1526-0542
    DOI 10.1016/j.prrv.2023.05.002
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  5. Article ; Online: Annual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management.

    Shah, Amit S / Leu, Roberta M / Keens, Thomas G / Kasi, Ajay S

    Pediatric allergy, immunology, and pulmonology

    2021  Volume 34, Issue 3, Page(s) 97–101

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Humans ; Hypoventilation/congenital ; Hypoventilation/therapy ; Polysomnography ; Retrospective Studies ; Sleep Apnea, Central/diagnosis ; Sleep Apnea, Central/therapy
    Language English
    Publishing date 2021-08-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2566338-0
    ISSN 2151-3228 ; 2151-321X
    ISSN (online) 2151-3228
    ISSN 2151-321X
    DOI 10.1089/ped.2021.0072
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  6. Article ; Online: Abnormal Lung Clearance Index in Cystic Fibrosis Children with Normal FEV

    Kasi, Ajay S / Wee, Choo Phei / Keens, Thomas G / Salinas, Danieli B

    Lung

    2021  Volume 199, Issue 1, Page(s) 37–41

    Abstract: Single- and multiple-breath washout tests (SBW and MBW) measure ventilation inhomogeneity, but the relationship between them is unclear. Forty-three subjects with cystic fibrosis (CF) and healthy controls (HC) 8-21 years of age were recruited (CF = 30 ... ...

    Abstract Single- and multiple-breath washout tests (SBW and MBW) measure ventilation inhomogeneity, but the relationship between them is unclear. Forty-three subjects with cystic fibrosis (CF) and healthy controls (HC) 8-21 years of age were recruited (CF = 30 and HC = 13) and performed nitrogen MBW, vital capacity SBW, spirometry, and plethysmography. Mean phase III slope from SBW (SIII) and lung clearance index (LCI) were significantly different between CF and HC (p = 0.017 and p < 0.0001, respectively). Based on Pearson correlation, SIII and LCI showed strong correlation (ρ = 0.81, p < 0.0001). Both SIII and LCI significantly correlated with spirometry (all p < 0.05). Among CF subjects with normal FEV
    MeSH term(s) Adolescent ; Breath Tests/methods ; Case-Control Studies ; Child ; Cystic Fibrosis/physiopathology ; Female ; Forced Expiratory Volume/physiology ; Humans ; Male ; Plethysmography ; Respiratory Function Tests ; Young Adult
    Language English
    Publishing date 2021-01-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 6165-7
    ISSN 1432-1750 ; 0341-2040
    ISSN (online) 1432-1750
    ISSN 0341-2040
    DOI 10.1007/s00408-020-00412-8
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  7. Article ; Online: Improvement in sinonasal quality-of-life indicators for pediatric patients with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor.

    Castellanos, Carlos X / Osterbauer, Beth / Hasday, Steven / Keens, Thomas G / Koempel, Jeffrey / Ference, Elisabeth H

    International forum of allergy & rhinology

    2022  Volume 13, Issue 1, Page(s) 72–75

    MeSH term(s) Humans ; Child ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Aminophenols/therapeutic use ; Quality of Life ; Mutation ; Drug Combinations
    Chemical Substances elexacaftor (RRN67GMB0V) ; ivacaftor (1Y740ILL1Z) ; tezacaftor ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; Aminophenols ; Drug Combinations
    Language English
    Publishing date 2022-06-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2625826-2
    ISSN 2042-6984 ; 2042-6976
    ISSN (online) 2042-6984
    ISSN 2042-6976
    DOI 10.1002/alr.23036
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  8. Article ; Online: Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.

    Kagan, Odeya / Zhang, Christina / McElyea, Christine / Keens, Thomas G / Davidson Ward, Sally L / Perez, Iris A

    Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

    2023  Volume 19, Issue 9, Page(s) 1697–1700

    Abstract: Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the : Citation: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation ... ...

    Abstract Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the
    Citation: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.
    Language English
    Publishing date 2023-04-27
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2397213-0
    ISSN 1550-9397 ; 1550-9389
    ISSN (online) 1550-9397
    ISSN 1550-9389
    DOI 10.5664/jcsm.10634
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  9. Article ; Online: Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.

    Kasi, Ajay S / Riccitelli, Melinda / Kun, Sheila S / Westbrook, Adrianna L / Silva, George L / Keens, Thomas G / Guglani, Lokesh

    Pediatric allergy, immunology, and pulmonology

    2023  Volume 36, Issue 2, Page(s) 52–56

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Humans ; Adolescent ; Adult ; Child ; Young Adult ; Homeodomain Proteins/genetics ; Transcription Factors/genetics ; Cross-Sectional Studies ; COVID-19/complications ; Oxygen
    Chemical Substances Homeodomain Proteins ; Transcription Factors ; Oxygen (S88TT14065)
    Language English
    Publishing date 2023-05-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2566338-0
    ISSN 2151-3228 ; 2151-321X
    ISSN (online) 2151-3228
    ISSN 2151-321X
    DOI 10.1089/ped.2023.0004
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  10. Article ; Online: Sleep-related breathing disorders in infants with spina bifida repaired prenatally and postnatally.

    Stark, Katherine G / Wang, Rachel Y / Smith, Kathryn A / Chu, Jason / Keens, Thomas G / Van Speybroeck, Alexander / Chmait, Ramen H / Ward, Sally L Davidson / Perez, Iris A

    Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

    2024  

    Abstract: Study objectives: Advances in prenatal repair of myelomeningocele (MMC) have improved outcomes involving different organ systems. There is limited data on respiratory outcomes following prenatal surgical repair. We hypothesize there is no difference in ... ...

    Abstract Study objectives: Advances in prenatal repair of myelomeningocele (MMC) have improved outcomes involving different organ systems. There is limited data on respiratory outcomes following prenatal surgical repair. We hypothesize there is no difference in respiratory outcomes between spina bifida (SB) patients who have undergone prenatal versus postnatal repair.
    Methods: We performed a retrospective study of 46 infants <1 year with SB seen at Children's Hospital Los Angeles from 2004-2022. Demographic data, timing of closure, neonatal course, Chiari II malformation (CIIM), ventriculoperitoneal shunt (VPS), polysomnography (PSG) results, and need for supplemental oxygen were collected. Unpaired t-test and Chi-square Test were used to analyze results.
    Results: 31/46 had prenatal repair of MMC; average age at repair was 27 weeks post-conception (PCA). Average age at postnatal repair was 37 PCA. There was no difference in age at PSG. There was no difference in CIIM presence (p=0.61). 60% of patients with postnatal repair and 23% in the prenatal group underwent VPS placement (p=0.01).
    There was no difference in PSG findings between the two groups: CAI (p=0.11), OAHI (p=0.64), average SpO
    Conclusions: Patients with SB who've undergone closure of neural tube defect have persistent central apneas, obstructive apneas, and significant hypoxemia. There were no differences in the frequency or severity of sleep-disordered breathing in those with prenatal repair versus postnatal repair.
    Language English
    Publishing date 2024-04-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2397213-0
    ISSN 1550-9397 ; 1550-9389
    ISSN (online) 1550-9397
    ISSN 1550-9389
    DOI 10.5664/jcsm.11174
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