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1.
Artículo en Inglés | MEDLINE | ID: mdl-38726707

RESUMEN

AIM: This study examined the outcomes of a telehealth model for sleep health assessment among Indigenous and non-Indigenous children residing in remote and regional communities at the Top End Northern Territory (NT) of Australia. METHODS: Video telehealth consultation, that included clinical history and relevant physical findings assessed virtually with an interstate paediatric sleep physician was conducted remotely. Polysomnography (PSG) and therapeutic interventions were carried out locally at Darwin, NT. The study participants were children referred between 2015 and 2020. RESULTS: Of the total 812 children referred for sleep assessment, 699 underwent a diagnostic PSG. The majority of patients were female (63%), non-Indigenous (81%) and resided in outer regional areas (88%). Indigenous children were significantly older and resided in remote or very remote locations (22% vs. 10%). Referral patterns differed according to locality and Indigenous status - (non-Indigenous via private (53%), Indigenous via public system (35%)). Receipt of referrals to initial consultation was a median of 16 days and 4 weeks from consult to PSG. Remote children had slightly longer time delay between the referral and initial consult (32 vs. 15 days). Fifty one percent were diagnosed to have OSA, 27% underwent adenotonsillectomy and 2% were prescribed with CPAP therapy. CONCLUSIONS: This study has demonstrated that a telehealth model can be an effective way in overcoming logistical barriers and in providing sleep health services to children in remote and regional Australia. Further innovative efforts are needed to improve the service model and expand the reach for vulnerable children in very remote communities.

2.
J Pers Med ; 13(5)2023 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-37241034

RESUMEN

Primary nasal epithelial cells and culture models are used as important diagnostic, research and drug development tools for several airway diseases. Various instruments have been used for the collection of human nasal epithelial (HNE) cells but no global consensus yet exists regarding the optimal tool. This study compares the efficiency of two cytology brushes (Olympus (2 mm diameter) and Endoscan (8 mm diameter)) in collecting HNE cells. The study involved two phases, with phase one comparing the yield, morphology and cilia beat frequency (CBF) of cells collected from paediatric participants using each of the two brushes. Phase two compared nasal brushing under general anaesthetic and in the awake state, across a wide age range, via the retrospective audit of the use of the Endoscan brush in 145 participants. Results indicated no significant difference in CBF measurements between the two brushes, suggesting that the choice of brush does not compromise diagnostic accuracy. However, the Endoscan brush collected significantly more total and live cells than the Olympus brush, making it a more efficient option. Importantly, the Endoscan brush is more cost-effective, with a notable price difference between the two brushes.

3.
Sleep Med ; 98: 68-78, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35785588

RESUMEN

BACKGROUND: Literature pertaining to the prevalence of obstructive sleep apnoea (OSA) and sleep quality among Indigenous Australian children is sparse. This study assessed various sleep related parameters and outcomes between Indigenous and non-Indigenous Australian children. METHODS: Children referred to the sleep health service in the Northern Territory of Australia for a clinically suspected sleep disorder between 2015 and 2021 were included in this study. Self-reported sleep measures alongside polysomnography data were assessed and compared between these two diverse ethnic population. RESULTS: Of the 671 sleep studies assessed, 121 (18%) were from Indigenous children. The majority of patients were male (61%), with a median age of 5.7 (3.5, 8.9) years, and body mass index (BMI) in the normal range (57%). Indigenous children were significantly older (median 7.2 years (4.5, 11.9), with a higher BMI (p = 0.005) and a greater proportion living in very remote locality (14% vs. 6% non-Indigenous, p = 0.001). Indigenous children had higher Paediatric Daytime Sleepiness Scale scores (p = 0.001), higher screen use before bed (p = 0.005), later bedtimes (p = 0.001) and reduced total sleep time (p = 0.034) compared to non-Indigenous children. Prevalence of OSA was higher in Indigenous children (55% vs. 48%) and with greater severity compared to non-Indigenous children. CONCLUSIONS: In this study, OSA was more prevalent and more severe in Indigenous children than their non-Indigenous peers. However, this may not necessarily be extrapolated to the general Indigenous paediatric population. Sleep hygiene and sleep quantity was also decreased further impacting adequate sleep. This highlights the importance of identifying and managing these addressable parameters and for targeted interventions.


Asunto(s)
Trastornos de Somnolencia Excesiva , Apnea Obstructiva del Sueño , Australia/epidemiología , Niño , Femenino , Humanos , Masculino , Polisomnografía , Apnea Obstructiva del Sueño/epidemiología , Calidad del Sueño
4.
Am J Respir Cell Mol Biol ; 67(1): 99-111, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35471184

RESUMEN

A significant challenge to making targeted cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies accessible to all individuals with cystic fibrosis (CF) are many mutations in the CFTR gene that can cause CF, most of which remain uncharacterized. Here, we characterized the structural and functional defects of the rare CFTR mutation R352Q, with a potential role contributing to intrapore chloride ion permeation, in patient-derived cell models of the airway and gut. CFTR function in differentiated nasal epithelial cultures and matched intestinal organoids was assessed using an ion transport assay and forskolin-induced swelling assay, respectively. CFTR potentiators (VX-770, GLPG1837, and VX-445) and correctors (VX-809, VX-445, with or without VX-661) were tested. Data from R352Q-CFTR were compared with data of 20 participants with mutations with known impact on CFTR function. R352Q-CFTR has residual CFTR function that was restored to functional CFTR activity by CFTR potentiators but not the corrector. Molecular dynamics simulations of R352Q-CFTR were carried out, which indicated the presence of a chloride conductance defect, with little evidence supporting a gating defect. The combination approach of in vitro patient-derived cell models and in silico molecular dynamics simulations to characterize rare CFTR mutations can improve the specificity and sensitivity of modulator response predictions and aid in their translational use for CF precision medicine.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística , Fibrosis Quística , Aminofenoles/farmacología , Cloruros/metabolismo , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/metabolismo , Humanos , Simulación de Dinámica Molecular , Mutación , Organoides/metabolismo
5.
Pediatr Pulmonol ; 57(6): 1497-1504, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35278044

RESUMEN

OBJECTIVES: To examine objective daytime predictors of nocturnal hypercapnic hypoventilation (NHH) and identify a forced vital capacity (FVC) z-score cut off that predicts NHH using the 2012 Global Lung Function Initiative (GLI) reference equations in pediatric neuromuscular patients. DESIGN: Single-centre retrospective medical record review. SETTING: Tertiary pediatric hospital in Australia. PATIENTS: Children (<18 years old) with a neuromuscular disorder (NMD) who had a diagnostic sleep study over a 5-year period. RESULTS: Fifty children were included, median age 11.9 years (interquartile range [IQR]: 4.5-14.3). The majority of children had a diagnosis of Duchenne Muscular Dystrophy (32%). NHH was diagnosed in 18 children (36%). Multivariate logistic regression analysis performed for the entire cohort confirmed a statistically significant association between NHH and scoliosis (odds ratio [OR]: 3.3, p = 0.03), but not age (OR: 1.01, p = 0.26), body mass index z-score (OR: 0.86, p = 0.26) or use of a wheelchair for mobility (OR: 1.25, p = 0.72). For the subset of 29 children who had spirometry testing (median age 12.9 years [IQR: 10.2-14.3]), FVC z-score was the only statistically significant predictor of NHH (OR: 0.45, p = 0.02). NHH was predicted by an FVC z-score <-3.24 (sensitivity 78%, specificity 73%), or FVC <60% predicted (sensitivity 78%, specificity 73%). There was a strong positive correlation between FVC and forced expiratory volume in 1 s z-scores (rp = 0.98, p = 0.00) and FVC and peak expiratory flow  z-scores (rp = 0.72, p = 0.00). CONCLUSION: Children with a NMD and scoliosis or a lower FVC z-score have increased odds of having NHH.


Asunto(s)
Enfermedades Neuromusculares , Escoliosis , Adolescente , Niño , Volumen Espiratorio Forzado , Humanos , Hipercapnia/etiología , Hipoventilación/diagnóstico , Hipoventilación/etiología , Enfermedades Neuromusculares/complicaciones , Estudios Retrospectivos , Escoliosis/complicaciones , Espirometría , Capacidad Vital
6.
ERJ Open Res ; 7(1)2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33532470

RESUMEN

BACKGROUND: Patient-oriented research approaches that reflect the needs and priorities of those most affected by health research outcomes improves translation of research findings into practice. Targeted therapies for cystic fibrosis (CF) are now a viable treatment option for some eligible individuals despite the heterogeneous patient-specific therapeutic response. This has necessitated development of a clinical tool that predicts treatment response for individual patients. Patient-derived mini-organs (organoids) have been at the forefront of this development. However, little is known about their acceptability in CF patients and members of the public. METHODS: We used a cross-sectional observational design to conduct an online survey in people with CF, their carers and community comparisons. Acceptability was examined in five domains: 1) willingness to use organoids, 2) perceived advantages and disadvantages of organoids, 3) acceptable out-of-pocket costs, 4) turnaround time and 5) source of tissue. RESULTS: In total, 188 participants completed the questionnaire, including adults with CF and parents of children with CF (90 (48%)), and adults without CF and parents of children without CF (98 (52%)). Use of organoids to guide treatment decisions in CF was acceptable to 86 (95%) CF participants and 98 (100%) community participants. The most important advantage was that organoids may improve treatment selection, improving the patient's quality of life and life expectancy. The most important disadvantage was that the organoid recommended treatment might be unavailable or too expensive. CONCLUSIONS: These findings indicate acceptance of patient-derived organoids as a tool to predict treatment response by the majority of people surveyed. This may indicate successful future implementation into healthcare systems.

7.
Eur Respir Rev ; 30(159)2021 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-33597125

RESUMEN

The development of cystic fibrosis-related diabetes (CFRD) often leads to poorer outcomes in patients with cystic fibrosis including increases in pulmonary exacerbations, poorer lung function and early mortality. This review highlights the many factors contributing to the clinical decline seen in patients diagnosed with CFRD, highlighting the important role of nutrition, the direct effect of hyperglycaemia on the lungs, the immunomodulatory effects of high glucose levels and the potential role of genetic modifiers in CFRD.


Asunto(s)
Fibrosis Quística , Diabetes Mellitus , Fibrosis Quística/complicaciones , Fibrosis Quística/diagnóstico , Fibrosis Quística/epidemiología , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiología , Humanos , Pulmón
8.
Paediatr Respir Rev ; 39: 54-60, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33129670

RESUMEN

AIM: To describe the respiratory and nutritional supportive care and hospitalisations required in the real-world scenario in children with SMA type 1 treated with nusinersen. METHODS: Single-centre observational cohort study of children with SMA1 commencing nusinersen from November 2016 to September 2018. Motor, respiratory and nutritional clinical characteristics and management are described from initiation of nusinersen for a minimum of two years. RESULTS: Nine children (5 females, 4 males), median age 10.7 months (range 2.7-181.2) commenced treatment with nusinersen and outcomes were assessed over a total of 270.5 patient months and 209 hospital admissions. Supportive care in newly-diagnosed patients (n = 7) included gastrostomy insertion (n = 4) and commencement of noninvasive ventilation (n = 4) at an average of 8.3 and 4.5 months after diagnosis, respectively. The annualised hospitalisation rate was 9.3/patient/year, average length of stay (LOS) of 3.3 days (SD = 5.6). Children with two SMN2 copies required more gastrostomies (p < 0.05) and had more frequent admissions (p < 0.05). Number of total admissions halved from the first to the second year of treatment in all patients (p < 0.005). INTERPRETATION: Children with treated SMA1 experienced considerable respiratory and bulbar comorbidities, necessitating substantial respiratory and nutritional supportive care. Proactive respiratory and nutritional surveillance and management is essential in SMA1 patients treated with nusinersen.


Asunto(s)
Atrofias Musculares Espinales de la Infancia , Australia/epidemiología , Niño , Comorbilidad , Femenino , Humanos , Masculino , Estudios Observacionales como Asunto , Oligonucleótidos
10.
Paediatr Respir Rev ; 34: 24-34, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32247829

RESUMEN

PURPOSE: The objective of this study was to describe the diagnostic yield and safety of bronchoalveolar lavage (BAL) in the evaluation of pulmonary lesions in immunocompromised children. METHODS: We conducted a systematic review of literature published during the past 20 years, searching Medline, Medline EPub, EMBASE, and Scopus. Studies included involved paediatric patients (<18 years) on treatment for an oncological diagnosis or other immune compromise who underwent BAL for evaluation of pulmonary lesions. Only English language publications were included. RESULTS: In all, 272 studies were screened and 19 included. All were observational studies with moderate (11/19) or serious (8/19) risk of bias. BAL yielded a potential pathogen in 43% of cases (496/1156). Two papers reported improved diagnostic yield with early BAL (less than 3 days of presentation). A change in patient management after BAL was reported in 53% of cases (275/519). Adverse events were reported in 19% of cases following BAL (193/993) but were generally mild with no procedure-related mortality reported. CONCLUSION: BAL appears to be useful for evaluation of pulmonary lesions in immunocompromised children with generally acceptable safety, though included studies had at least moderate risk of bias. Future prospective studies may provide more definitive estimates of benefit, timing and risk of BAL in this population.


Asunto(s)
Broncoscopía , Huésped Inmunocomprometido , Enfermedades Pulmonares Fúngicas/diagnóstico , Neumonía Bacteriana/diagnóstico , Neumonía Viral/diagnóstico , Antiinfecciosos/uso terapéutico , Lavado Broncoalveolar , Líquido del Lavado Bronquioalveolar , Niño , Sustitución de Medicamentos , Humanos , Enfermedades Pulmonares Fúngicas/tratamiento farmacológico , Enfermedades Pulmonares Fúngicas/inmunología , Neumonía Bacteriana/tratamiento farmacológico , Neumonía Bacteriana/inmunología , Neumonía Viral/tratamiento farmacológico , Neumonía Viral/inmunología
11.
J Cyst Fibros ; 19(5): 700-703, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32111453

RESUMEN

It is not yet known whether continuous glucose monitoring (CGM) abnormalities persist in young children with CF. We evaluated longitudinal CGM results for children with CF < 10 years of age. We performed 3-day CGM at baseline, 12 months, and 24 months on 11 CF children (1 female) initially aged mean (SD) 3.8 (2.5) years. CGM analysis included (i) mean sensor glucose (SG), (ii) standard deviation (SD) for SG, (iii) peak SG and (iv)% time spent above a threshold of 7.8 mmol/L. Only three (3/11, 27%) had normal CGM at all time-points. Nearly three quarters of the participants (8/11, 73%) spent more than 4.5 percent time > 7.8 mmol/L at one time-point, five of whom had an elevated percent time on a subsequent test. Young children with CF have glucose abnormalities detected by CGM that fluctuate over time.


Asunto(s)
Fibrosis Quística/complicaciones , Fibrosis Quística/metabolismo , Intolerancia a la Glucosa/diagnóstico , Factores de Edad , Automonitorización de la Glucosa Sanguínea , Niño , Preescolar , Líquido Extracelular/metabolismo , Femenino , Glucosa/metabolismo , Intolerancia a la Glucosa/etiología , Intolerancia a la Glucosa/metabolismo , Humanos , Estudios Longitudinales , Masculino , Estudios Prospectivos , Factores de Tiempo
12.
J Cyst Fibros ; 19(2): 305-309, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31126898

RESUMEN

BACKGROUND: Screening for Cystic Fibrosis-related diabetes is recommended in patients with CF <10 years old when there are concerns about growth and lung function. The Oral Glucose Tolerance Test (OGTT) is recommended but has not been validated in this cohort. We sought to determine whether the 2-h OGTT, the gold standard diagnostic test for CFRD, detects clinical decline in children with CF <10 years old. METHODS: We analysed blood glucose(BG) levels collected every 30 min during OGTT in 27 children with CF < 10 years old, comparing the 2-hour BG (BG120min), peak BG (BGmax) and Area Under the Curve(AUC) for glucose and the association with lung function and nutritional status. We also compared the OGTT results with results from Continuous Glucose Monitoring (CGM) performed in 11 participants. RESULTS: The BGmax was higher than the BG120min in 25/27 (93%) participants. There was a significant inverse correlation between BGmax and weight z-score (rs = -0.56, p = .002) and between BGmax and FEV1 (rs = -0.54, p = .014) that was not present for BG120min. A significant inverse correlation was also identified between fasting insulin level and elevated glucose on CGM, defined as AUC >7.8 mmol/L (rs = - 0.69, p = .027) or as % time > 7.8 (rs = - 0.76, p = .011). CONCLUSIONS: Children with CF < 10 years of age with higher BGmax on OGTT have lower lung function and weight z- scores that may not be identified using the 2 h OGTT BG120min. CGM also identifies glucose excursions in young children with CF.


Asunto(s)
Glucemia/análisis , Fibrosis Quística , Diabetes Mellitus , Intolerancia a la Glucosa , Prueba de Tolerancia a la Glucosa/métodos , Insulina/sangre , Automonitorización de la Glucosa Sanguínea/métodos , Niño , Desarrollo Infantil , Correlación de Datos , Fibrosis Quística/sangre , Fibrosis Quística/complicaciones , Fibrosis Quística/fisiopatología , Diabetes Mellitus/sangre , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/etiología , Femenino , Intolerancia a la Glucosa/sangre , Intolerancia a la Glucosa/diagnóstico , Intolerancia a la Glucosa/etiología , Humanos , Masculino , Tamizaje Masivo/métodos , Estado Nutricional , Pruebas de Función Respiratoria/métodos
13.
Pediatr Pulmonol ; 54(12): 1921-1926, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31475469

RESUMEN

BACKGROUND: Children with cystic fibrosis (CF) are routinely managed in a multidisciplinary clinic at tertiary pediatric centers. However, children with bronchiectasis may not be managed in the same way. We sought to compare the management model and clinical outcomes of children with bronchiectasis with children diagnosed with CF, in a single pediatric center. METHODS: We identified patients with bronchiectasis from hospital medical records at an urban tertiary pediatric hospital and identified a sex- and age-matched CF patient at the same center to compare lung function, nutritional status, frequency of physiotherapy and respiratory physician visits, and number of microbiological samples taken for bacterial culture. RESULTS: Twenty-two children with bronchiectasis were identified, mean (standard deviation [SD]) age was 11 (3) years. The most common known etiology for bronchiectasis was postinfective (6 of 22) but was unknown in 8 of 22. The cohort with bronchiectasis had poorer lung function (FEV1 mean [SD] percent predicted 78.6 [20.5] vs 94.5 [14.7], P = .005) and had less outpatient reviews by the respiratory physician (P < .001) and respiratory physiotherapist (P < .001) when compared to those with CF. Nutritional parameters did not differ between the groups. Many children (10 of 22, 45%) with bronchiectasis did not have any microbiological respiratory tract samples taken for evaluation. CONCLUSION: Children with bronchiectasis at this institution have poorer lung function than children with CF, and are deserving of improved multidisciplinary care.


Asunto(s)
Bronquiectasia/terapia , Fibrosis Quística/terapia , Pulmón/fisiopatología , Nivel de Atención , Adolescente , Bronquiectasia/fisiopatología , Niño , Preescolar , Estudios de Cohortes , Fibrosis Quística/fisiopatología , Femenino , Humanos , Masculino
14.
Pediatr Pulmonol ; 54(11): 1821-1829, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31393087

RESUMEN

BACKGROUND: Respiratory viruses are a common cause of infection in immunosuppressed children undergoing cancer therapy. Pulmonary sequelae have been documented following respiratory viral infections (RVIs) in hematopoietic stem cell transplant (HSCT) recipients; however potential late effects in children undergoing nonmyeloablative chemotherapy have not been investigated. AIM: To evaluate the long-term pulmonary morbidity of respiratory viral infections during chemotherapy in children with acute lymphoblastic leukemia (ALL). METHODS: Childhood ALL survivors, aged 7 to 18 years, greater than 6 months posttreatment were recruited. Exclusion criteria included HSCT or proven bacterial/fungal respiratory infection during treatment. Subjects were classified into "viral" or "control" groups according to retrospective medical records that documented the presence of laboratory-proven RVIs during chemotherapy. Symptom questionnaires (Liverpool, ISAAC) and lung function testing (spirometry, plethysmography, diffusing capacity, forced oscillation technique to ATS/ERS standards) were then performed cross-sectionally at the time of recruitment. RESULTS: Fifty-four patients (31 viral, 23 control) were recruited: median (range) age 11.2 (7.2-18.1) years, and at 4.9 (0.5-13) years posttherapy. Abnormalities were detected in 17 (31%) individuals (8 viral, 9 control), with the most common being DLCO impairment (3 viral, 4 control) and reduced respiratory reactance at 5 Hz (5 viral, 6 control). Children with RVIs during chemotherapy reported more current respiratory symptoms, particularly wheeze (odds ratio [OR], 3.0; 95% confidence interval [CI]: 0.9-10.0; P = .09) and cough (OR, 2.7; 95% CI: 0.8-9.5; P = .11). No differences in lung function tests were observed between the two groups. CONCLUSIONS: Our study found children with RVIs during chemotherapy developed more long-term respiratory symptoms than controls; however, differences did not reach statistical significance. No differences in static lung function were found between the two groups. Overall, pulmonary abnormalities and/or significant ongoing respiratory symptoms were detected in nearly a third of ALL survivors treated without HSCT. Larger, prospective studies are warranted to evaluate the etiology and clinical significance of these findings.


Asunto(s)
Antineoplásicos/uso terapéutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiología , Infecciones del Sistema Respiratorio/epidemiología , Virosis/epidemiología , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/fisiopatología , Pruebas de Función Respiratoria , Infecciones del Sistema Respiratorio/fisiopatología , Estudios Retrospectivos , Virosis/fisiopatología
15.
J Cyst Fibros ; 18(6): 869-873, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31036487

RESUMEN

BACKGROUND: Children with CF are insulin deficient from infancy but very little is known about the impact of glucose abnormalities in early life. We aimed to identify and describe interstitial glucose levels in CF children <6 years and to evaluate the association with pulmonary infection and inflammation. METHODS: We assessed 18 children (5 females) with median age of 3.2 years (range 0·9-5.5) with Continuous Glucose Monitoring for 3 days. Bronchoalveolar lavage (BAL) fluid was cultured for known pathogenic microbial agents and assessed for total white blood cells, percentage of neutrophils and IL-8 level. RESULTS: Peak sensor glucose (SG) was >11.1 mmol/L in 39% of participants. The percentage neutrophil count on BAL was positively correlated with elevated SG (peak SG rs = 0.48, p = .044) and with glucose variability (SG standard deviation r = 0.62, ß = 38.5, p = .006). BAL IL-8 level was significantly correlated with all measures of CGM hyperglycemia including % time > 7.8 mmol/L (p = .008) and standard deviation (p < .001). Participants with a history of Pseudomonas aeruginosa had a higher % time > 7.8 mmol/L glucose (16% versus 3%, p = .015). CONCLUSION: Children with CF frequently demonstrate elevated SG levels before age 6 years, which are associated with increased pulmonary inflammation and Pseudomonas aeruginosa infection. Transient SG elevations into the diabetic range (≥11.1 mmol/L) were identified in children from 1 year of age.


Asunto(s)
Líquido del Lavado Bronquioalveolar , Fibrosis Quística , Hiperglucemia , Neutrófilos , Neumonía , Infecciones por Pseudomonas , Pseudomonas aeruginosa/aislamiento & purificación , Australia/epidemiología , Glucemia/análisis , Líquido del Lavado Bronquioalveolar/inmunología , Líquido del Lavado Bronquioalveolar/microbiología , Preescolar , Correlación de Datos , Fibrosis Quística/sangre , Fibrosis Quística/diagnóstico , Fibrosis Quística/epidemiología , Fibrosis Quística/microbiología , Femenino , Humanos , Hiperglucemia/diagnóstico , Hiperglucemia/inmunología , Lactante , Interleucina-8/análisis , Recuento de Leucocitos/métodos , Masculino , Monitoreo Fisiológico/métodos , Monitoreo Fisiológico/estadística & datos numéricos , Neumonía/sangre , Neumonía/diagnóstico , Infecciones por Pseudomonas/sangre , Infecciones por Pseudomonas/diagnóstico
16.
BMC Pediatr ; 19(1): 78, 2019 03 11.
Artículo en Inglés | MEDLINE | ID: mdl-30857526

RESUMEN

BACKGROUND: Cholecystoduodenostomy is a surgical procedure that bypasses the extrahepatic biliary tree and connects the gallbladder directly to the duodenum. This case describes the successful use of this procedure in a novel situation. CASE PRESENTATION: A premature (34 weeks gestation) female infant with cystic fibrosis required a laparotomy on day 1 of life due to an intrauterine small bowel perforation. Resection of small bowel and ileostomy formation resulted in short gut syndrome, with 82 cm residual small bowel and intact ileocaecal valve. Post-ileostomy reversal at 2 months old, she developed conjugated hyperbilirubinaemia. Despite conservative management including increased enteral feeding, ursodeoxycholic acid, cholecystostomy drain insertion and flushes, her cholestatic jaundice persisted. A liver biopsy revealed an "obstructive/cholestatic" picture with fibrosis. To avoid further shortening her gut with an hepatoportoenterostomy, cholecystoduodenostomy was performed at 3 months of age with subsequent post-operative improvement and eventual normalisation of her clinical jaundice and liver biochemistry. CONCLUSIONS: This is the first reported case of a cholecystoduodenostomy being used successfully to treat an infant with persistent conjugated hyperbilirubinemia, cystic fibrosis and short gut syndrome. Cholecystoduodenostomy is a treatment option that with further study, may be considered for obstruction of the common bile duct in patients with short gut and/or where a shorter operating time with minimal intervention is preferred.


Asunto(s)
Colestasis Extrahepática/cirugía , Fibrosis Quística/complicaciones , Duodenostomía , Duodeno/cirugía , Vesícula Biliar/cirugía , Hepatopatías/cirugía , Síndrome del Intestino Corto/complicaciones , Sistema Biliar/diagnóstico por imagen , Colecistostomía , Colestasis Extrahepática/complicaciones , Femenino , Humanos , Hiperbilirrubinemia/etiología , Lactante , Recien Nacido Prematuro , Intestino Delgado/cirugía , Hepatopatías/etiología
17.
Respir Care ; 63(12): 1520-1527, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30254045

RESUMEN

BACKGROUND: Cough augmentation techniques are taught by health-care providers to improve secretion clearance and to help prevent respiratory infections in children with neuromuscular disease. There is some evidence of the effectiveness of a manually assisted cough when applied by health-care providers. However, it is unknown whether parents and caregivers may also be effective in applying manually assisted cough. The aim of this study was to evaluate whether parents and caregivers are effective at applying a manually assisted cough to a child with neuromuscular disease after being taught by a health-care provider. METHODS: For this prospective cohort study, children and their parents or caregivers were recruited from neuromuscular clinics in the Sydney Children's Hospitals Network. Cough peak flow was the outcome measure for the strength of the child's cough. Children were eligible to participate if their unassisted cough peak flow at baseline was <270 L/min. Parents and caregivers were taught a manually assisted cough by a physiotherapist before being measured. The cough peak flow was measured in the following order: (1) during an unassisted cough as baseline, (2) during a manually assisted cough performed by a physiotherapist, (3) during a manually assisted cough performed by a parent or caregiver, and (4) during an unassisted cough after intervention. RESULTS: Twenty-eight children (24 boys, 4 girls; mean ± SD age, 12 ± 3 y) completed the study. No clinically or statistically significant changes were found in the cough peak flow after the application of a manually assisted cough by parents or caregivers (95% CI -11 to 11 L/min) or by physiotherapists (95% CI -6 to 14 L/min). CONCLUSIONS: Parents and caregivers and health-care providers were ineffective at increasing cough peak flow in children with neuromuscular weakness when applying a manually assisted cough. A single training session was insufficient for a parent or caregiver to be able to apply a manually assisted cough effectively on his or her child with neuromuscular weakness. Further research is warranted to guide recommendations on how best to equip parents and caregivers with the skills to help manage children with neuromuscular disease.


Asunto(s)
Cuidadores/educación , Tos/fisiopatología , Educación no Profesional , Enfermedades Neuromusculares/complicaciones , Terapia Respiratoria/métodos , Adolescente , Niño , Femenino , Humanos , Masculino , Depuración Mucociliar , Padres/educación , Ápice del Flujo Espiratorio , Estudios Prospectivos
18.
J Cyst Fibros ; 17(1): 109-113, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-28754328

RESUMEN

BACKGROUND: The pathogenesis of gut inflammation, bacterial dysbiosis and increased rates of malignancy in CF is unclear. Fecal M2-pyruvate kinase (M2-PK) is a biomarker indicative of cellular proliferation that may be raised in intestinal malignancy and inflammation. Biomarkers, including M2-PK, may be useful in assessing effects of novel therapies on the gastrointestinal tract. METHODS: M2-PK was measured in stools collected from patients with CF and HC (0-10years). Linear mixed model analysis was used. RESULTS: M2-PK levels did not significantly change in children with CF (36 patients, 77 samples) (P=0.998) or HC (45 patients, 45 samples) (P=0.21), over the age range 0-10years. Patients with CF had elevated M2-PK compared to HC (median [IQR; range]: 10.7 [5.7-28.6; 1.0-239.1] (n=77) vs. 1.0 [1.0-1.0; 1.0-50.0] (n=45) U/mL, respectively; P=0.001). CONCLUSIONS: Fecal M2-PK was elevated in children with CF compared with HC during infancy and throughout childhood suggesting abnormalities in the CF gut exist in early life.


Asunto(s)
Fibrosis Quística , Heces/enzimología , Enfermedades Gastrointestinales , Tracto Gastrointestinal , Piruvato Quinasa , Australia/epidemiología , Biomarcadores/análisis , Biomarcadores/metabolismo , Proliferación Celular/fisiología , Niño , Preescolar , Fibrosis Quística/diagnóstico , Fibrosis Quística/epidemiología , Fibrosis Quística/metabolismo , Fibrosis Quística/fisiopatología , Femenino , Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/epidemiología , Tracto Gastrointestinal/metabolismo , Tracto Gastrointestinal/fisiopatología , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Piruvato Quinasa/análisis , Piruvato Quinasa/metabolismo , Factores de Riesgo
19.
J Surg Educ ; 74(6): e31-e38, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28623114

RESUMEN

OBJECTIVE: Characterize the concordance among faculty and resident perceptions of surgical case complexity, resident technical performance, and autonomy in a diverse sample of general surgery procedures using case-specific evaluations. DESIGN: A prospective study was conducted in which a faculty surgeon and surgical resident independently completed a postoperative assessment examining case complexity, resident operative performance (Milestone assessment) and autonomy (Zwisch model). Pearson correlation coefficients (r) reaching statistical significance (p < 0.05) were further classified as moderate (r ≥ 0.40), strong (r ≥ 0.60), or very strong (r ≥ 0.80). SETTING: This study was conducted in the General Surgery Residency Program at an academic tertiary care facility (Geisinger Medical Center, Danville, PA). PARTICIPANTS: Participants included 6 faculty surgeons, in addition to 5 postgraduate year (PGY) 1, 6 midlevel (PGY 2-3), and 4 chief (PGY 4-5) residents. RESULTS: In total, 75 surgical cases were analyzed. Midlevel residents accounted for the highest number of cases (35, 46.6%). Overall, faculty and resident perceptions of case complexity demonstrated a strong correlation (r = 0.76, p < 0.0001). Technical performance scores were also strongly correlated (r = 0.66, p < 0.0001), whereas perceptions of autonomy demonstrated a moderate correlation (r = 0.56, p < 0.0001). Subgroup analysis revealed very strong correlations among faculty perceptions of case complexity and the perceptions of PGY 1 (r = 0.80, p < 0.0001) and chief residents (r = 0.82, p < 0.0001). All other intergroup correlations were strong with 2 notable exceptions as follows: midlevel and chief residents failed to correlate with faculty perceptions of autonomy and operative performance, respectively. CONCLUSIONS: General surgery residents generally demonstrated high correlations with faculty perceptions of case complexity, technical performance, and operative autonomy. This generalized accord supports the use of the Milestone and Zwisch assessments in residency programs. However, discordance among perceptions of midlevel resident autonomy and chief resident operative performance suggests that these trainees may need more direct communication from the faculty.


Asunto(s)
Docentes Médicos/organización & administración , Cirugía General/educación , Internado y Residencia/organización & administración , Relaciones Interprofesionales , Quirófanos , Autonomía Profesional , Adulto , Competencia Clínica , Estudios de Cohortes , Educación Basada en Competencias , Educación de Postgrado en Medicina/organización & administración , Femenino , Humanos , Masculino , Percepción , Estudios Prospectivos , Estados Unidos
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