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1.
Patient ; 17(1): 65-82, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37991685

RESUMO

BACKGROUND AND OBJECTIVE: Medical advancement has enabled children to survive congenital airway anomalies, rare diseases and critical illnesses with medical technology including tracheostomies and long-term ventilation to support breathing. This study aimed to assess (1) the validity of the EQ-TIPS and EQ-5D-Y-3L in children dependent on technology and (2) the impact of caring for these children on the EQ-5D-5L and CarerQoL. METHODS: Caregivers of children aged 1 month to 18 years completed the EQ-TIPS or EQ-5D-Y-3L, Pediatric Quality of Life Inventory (PedsQL) and Paediatric Tracheostomy Health Status Instrument (PTHSI) to reflect the child's health. In addition, caregivers self-completed the EQ-5D-5L and CarerQoL. Reports of problems on EQ dimensions were compared across age groups with the Fisher's exact test. Spearman and Pearson's correlation coefficients and Kruskal-Wallis H-test were used to explore the association between caregiver and child scores, concurrent validity, and known-group validity of the EQ-TIPS and EQ-5D-Y-3L. RESULTS: Responses from 144 caregivers were collected, 66 for children aged 1 month to 4 years completing EQ-TIPS and 78 for children aged 5-18 years completing EQ-5D-Y-3L. The EQ-TIPS showed a higher report of no problems for social interaction for children aged 1-12 months (p = 0.040) than the older age groups, there were however no differences in the level sum score (LSS) or EQ Visual Analogue Scale scores between the age groups. The EQ-5D-Y-3L showed a significantly less report of problems for mobility (p = 0.013) and usual activities (p = 0.006) for children aged 5-7 years compared with children aged 8-12 and children aged 13-18 years. Similarly, the 5-7 years of age group had a significantly lower EQ-5D-Y-3L LSS compared with the older groups (H = 12.08, p = 0.002). The EQ-TIPS and EQ-5D-Y-3L showed moderate-to-strong associations with the PedsQL. EQ-TIPS median LSS was able to differentiate between groups on the clinical prognosis with a better health-related quality of life (HRQoL) in those where weaning from technology is possible compared with those where weaning is not possible (H = 18.98, p = 0.011). The EQ-5D-Y-3L can discriminate between breathing technology, where those with only a tracheostomy reported better HRQoL (H = 8.92, p = 0.012), and between mild and moderate clinical severity (H = 19.42, p < 0.001). Neither the PedsQL nor the PTHSI was able to discriminate between these groups across the age range. Caregiver and child HRQoL scores showed moderate-to-strong associations. CONCLUSIONS: The EQ-TIPS and EQ-5D-Y-3L showed good validity in children dependent on the technology for breathing. The EQ-TIPS and EQ-5D-Y-3L LSS were all able to differentiate between children with known clinical variables and outperformed both the PedsQL and PTHSI, making them preferable for intervention research. The caregiver scores are associated with the child HRQoL scores and thus a spill-over should be accounted for in any interventions targeting this cohort. It is recommended that future studies investigate the reliability and responsiveness of these measures in children dependent on technology for breathing.


Assuntos
Cuidadores , Qualidade de Vida , Humanos , Criança , Idoso , Pré-Escolar , Reprodutibilidade dos Testes , Inquéritos e Questionários , Nível de Saúde , Psicometria
2.
Pediatr Pulmonol ; 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38050799

RESUMO

Long-term ventilation (LTV) in children at home, especially invasive ventilation, is not widely available nor practised in low-resource settings (LRS). Barriers to providing LTV include underdeveloped pediatric critical care services, limited expertise in pediatric LTV, limited capacity to screen for sleep-disordered breathing (SDB) and high cost of LTV equipment and consumables. Additional challenges encountered in LRS may be unreliable electricity supply and difficult socioeconomic conditions. Where LTV at home has been successfully implemented, caregivers and families in LRS must often take full responsibility for their child's care as professional home-based nursing care is scarce. Selecting suitable children and families to offer LTV in LRS may therefore face difficult ethical decisions when families are disempowered or incapable of providing 24-h care at home. Early caregiver participation and hands-on training in tracheostomy care and LTV equipment is key to success, irrespective of the caregiver's level of education. The use of overnight oximetry, mobile phone technology, spirometry, and clinical evaluation are simple tools that can aid recognition and monitoring of children needing LTV. As children survive longer supported by LTV, engaging with adult services at an early stage is important to ensure suitable pathways for transition to adult care are in place. Building capacity and expertise in pediatric LTV in LRS requires targeted training of health professionals in related disciplines and advocacy to policymakers and funders that LTV in appropriately selected circumstances is worthwhile, life-changing, and cost-saving.

3.
Clin Endocrinol (Oxf) ; 98(5): 700-708, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36843192

RESUMO

OBJECTIVE: To examine the proportion of participants with poor sleep quality, evaluate the associations between sleep quality and anthropometric and cardiometabolic health markers, and evaluate the effect of high intensity interval training (HIIT) and continuous aerobic exercise training (CAET) on sleep quality in polycystic ovary syndrome (PCOS). DESIGN: Secondary analysis of a pilot randomized controlled trial. PATIENTS: Women with PCOS aged 18-40 years. MEASUREMENTS: The Pittsburgh Sleep Quality Index (PSQI) was measured at baseline and following a 6-month exercise intervention. A PSQI score >5 indicates poor sleep. Linear regression was used to evaluate the associations between PSQI score and anthropometric and cardiometabolic health markers, and the effect of exercise training on these associations. RESULTS: Thirty-four participants completed the PSQI at baseline, and 29 postintervention: no-exercise control (n = 9), HIIT (n = 12) and CAET (n = 8). At baseline, 79% had poor sleep quality. Baseline PSQI score was positively correlated with body mass index, waist circumference, body weight, haemoglobin A1c and insulin resistance. Mean PSQI score changes were -0.4 (SD 1.1), -0.7 (SD 0.6) and -0.5 (SD 0.9) for control, HIIT and CAET, respectively. For HIIT participants, change in PSQI score was associated with changes in body weight (B = .27, 95% CI 0.10-0.45) and waist circumference (B = .09, 95% CI 0.02-0.17). CONCLUSION: Most participants had poor sleep quality which was associated with poorer anthropometric and cardiometabolic health markers. There were no statistically significant changes in PSQI score with exercise training. With HIIT training, decreases in the sleep efficiency score were associated with reductions in body weight and waist circumference. Further studies are needed to determine the effect of exercise training on sleep quality.


Assuntos
Doenças Cardiovasculares , Síndrome do Ovário Policístico , Humanos , Feminino , Síndrome do Ovário Policístico/terapia , Qualidade do Sono , Projetos Piloto , Autorrelato , Exercício Físico , Peso Corporal
4.
Diabet Med ; 40(4): e15044, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36683387

RESUMO

BACKGROUND: No standardised questionnaires have been specifically developed to assess the considerable demands of managing type 1 diabetes (T1D) during pregnancy. AIMS: This study aimed to explore what domains of measurement are important to quality of life during pregnancy with TID and to assess if standardised questionnaires, used by previous researchers, adequately capture patients' reported experience of TID in pregnancy. METHODS: A qualitative inquiry was conducted using semi-structured focus groups with Canadian women who have experienced T1D in pregnancy. Participants were asked open-ended questions about experiences managing T1D during pregnancy and whether options on standardised tools captured their pregnancy experiences. Audio from focus groups was transcribed verbatim. Two researchers independently analysed the transcripts using inductive thematic analysis. Salient ideas, experiences and key words were coded iteratively and grouped into broader themes and subsequently reviewed by five participants. RESULTS: The sample included nine participants. Emergent themes included changes in day-to-day routines to manage T1D in pregnancy, fear of hyperglycaemia during pregnancy and of hypoglycaemia postpartum. Participants felt that existing options on standardised questionnaires did not adequately quantify diabetes interference in work, family time, planned activities and sleep, and did not address hyperglycaemia fear. CONCLUSIONS: Existing standardised questionnaires do not adequately capture patient-reported outcomes of greatest importance for those living with T1D in pregnancy. Future research assessing the impact of therapies on quality-of-life measures in TID pregnancies should quantify their influence on day-to-day activities, adjust measures of sleep quality and capture fear of hyperglycaemia in pregnancy and hypoglycaemia postpartum.


Assuntos
Diabetes Mellitus Tipo 1 , Hiperglicemia , Hipoglicemia , Gravidez , Humanos , Feminino , Qualidade de Vida , Canadá , Inquéritos e Questionários
5.
Can J Diabetes ; 46(6): 578-585.e4, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35864033

RESUMO

OBJECTIVES: Individuals with type 2 diabetes should engage in ≥150 min of moderate- to vigorous-intensity physical activity (MVPA) weekly, but most do not meet this guideline. Understanding how social determinants correlate with physical activity in adults with type 2 diabetes may improve development and delivery of physical activity interventions. This study aimed to explore associations between objectively measured MVPA with sociodemographic characteristics in adults with type 2 diabetes. METHODS: Cross-sectional data from cycles 1 through 5 of the Canadian Health Measures Survey were analyzed. Participants (N=876) 20 to 79 years of age with type 2 diabetes and ≥4 days of valid activity monitor wear were included. Proportions with 95% confidence intervals for objectively measured MVPA were compared according to sociodemographic characteristics. Ordinal logistic regression was used. Secondary outcomes included light-intensity physical activity, screen time and proportion of activity monitor wear time spent sedentary. RESULTS: Only 15.5% of women and 26.2% of men met Diabetes Canada physical activity guidelines, and approximately 75% of activity monitor wear time was spent in a sedentary state. Higher odds of achieving low levels of physical activity were observed among women who were former or current smokers (odds ratio [OR], 4.51; p<0.001), and among men who were ≥65 years of age (OR, 2.92; p<0.001), of middle (OR, 2.20; p<0.05) and lowest (OR, 3.06; p<0.05) income tertiles and current or former smokers (OR, 3.01; p<0.05). CONCLUSIONS: Sociodemographic factors are strongly associated with levels of MVPA in adults with type 2 diabetes. Sociodemographic information should be routinely collected by clinicians and used to inform more tailored and effective interventions for this patient population.


Assuntos
Diabetes Mellitus Tipo 2 , Comportamento Sedentário , Adulto , Canadá/epidemiologia , Estudos Transversais , Diabetes Mellitus Tipo 2/epidemiologia , Exercício Físico , Feminino , Humanos , Masculino , Fatores Sociodemográficos
6.
CMAJ Open ; 9(4): E1168-E1174, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34906992

RESUMO

BACKGROUND: Maternal weight gain during pregnancy is required for fetal development; however, excess gestational weight gain is associated with increased maternal and neonatal morbidity. We aimed to determine the proportion of Canadian women who gained excess weight during pregnancy and to identify risk factors for excess gestational weight gain. METHODS: Self-reported data on maternal weight gain were collected from the 2015/16 and 2017/18 cycles of the Canadian Community Health Survey (CCHS), a cross-sectional population-based survey. We included females aged 15 to 54 years with data on height, prepregnancy weight and gestational weight gain. We defined excess gestational weight gain in terms of preconception body mass index (BMI) according to the 2009 guideline of the US Institute of Medicine. We used logistic regression to evaluate potential risk factors for excess gestational weight gain. RESULTS: Of 1 335 615 Canadian women (weighted from approximately 9300 survey respondents), 422 043 (32%) gained excess weight during pregnancy. Women with obesity had 33% lower odds of gaining excess weight relative to women with overweight (odds ratio 0.67, 95% confidence interval 0.48-0.94). Risk factors for excess gestational weight gain were lower education level, white or Indigenous identity, smoking, mood disorder, anxiety disorder and Canadian citizenship. INTERPRETATION: One-third of Canadian women in this survey had excess gestational weight gain during pregnancy, and women with obesity had lower odds of gaining excess weight during pregnancy relative to women with overweight. Strategies are needed to reduce the proportion of Canadian women who gain excess weight during pregnancy, regardless of preconception BMI.


Assuntos
Ganho de Peso na Gestação , Hipertensão Induzida pela Gravidez/epidemiologia , Obesidade Materna/epidemiologia , Resultado da Gravidez/epidemiologia , Adolescente , Adulto , Índice de Massa Corporal , Canadá/epidemiologia , Cesárea , Cidadania , Comorbidade , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Gravidez , Prevalência , Fatores de Risco , Autorrelato , Adulto Jovem
7.
J Med Internet Res ; 23(3): e25208, 2021 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-33783363

RESUMO

BACKGROUND: Effective and efficient participant recruitment is a key determinant of the success of a research program. Previously reported recruitment strategies have displayed variable success rates in studies on women with polycystic ovary syndrome (PCOS). OBJECTIVE: This study aimed to evaluate the effectiveness and cost per participant of the recruitment strategies that we used in a prospective randomized controlled trial to examine the effects of exercise training among inactive women with PCOS, who are aged 18-40 years. METHODS: The 4 recruitment methods we used were as follows: (1) referral by health care providers or by word of mouth, (2) media (eg, local newspaper stories and radio interviews), (3) Facebook advertisements, and (4) unpaid advertisements including posters and websites. The proportions of potential, eligible, and enrolled participants recruited with each method were determined and compared using tests of proportion. The time investment and cost per participant enrolled were calculated for each recruitment strategy. RESULTS: Of 200 potential participants screened, 98 (49%) were recruited from unpaid advertisements (posters and websites), 70 (35%) from Facebook advertisements, 16 (8%) by referral, and 16 (8%) from traditional media (newspaper and radio). Every potential participant was recruited from separate means (ie, no participant was approached through more than one recruitment method). A total of 109 (54.5%) women were deemed eligible for participation in the trial, and 60 (30.0%) were enrolled. The proportion of potential participants who completed the trial was higher for those recruited from traditional media than from Facebook advertisements (n=7/16, 44% vs n=13/70, 19%, respectively; P=.03) or unpaid advertisements (n=7/16, 44% vs n=13/98, 13%, respectively; P=.002). The cost per participant was Can $18.21 (US $14.46) for Facebook advertisements and Can $43.88 (US $34.85) for unpaid advertisements. There were no direct trial costs for referrals or traditional media. CONCLUSIONS: For this trial, each method was important for recruiting inactive women with PCOS because no participant reported learning about the trial through more than one method. Unpaid advertisements and Facebook advertisements helped recruit the largest number of participants in the trial, the former resulting in a higher cost per participant than the latter. TRIAL REGISTRATION: ClinicalTrials.gov NCT03362918; https://clinicaltrials.gov/ct2/show/NCT03362918.


Assuntos
Síndrome do Ovário Policístico , Exercício Físico , Terapia por Exercício , Feminino , Humanos , Seleção de Pacientes , Síndrome do Ovário Policístico/terapia , Estudos Prospectivos
8.
Int J Cardiol Heart Vasc ; 33: 100725, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33659605

RESUMO

OBJECTIVE: Clinical trials suggest that SGLT2 inhibitors reduce the risk of cardiovascular mortality in patients with type 2 diabetes, however the mechanism is unclear. Our objective was to test the hypothesis that blood pressure reduction is one potential mechanism underlying the observed improvements in cardiovascular outcomes with SGLT2 inhibitors. METHODS: We searched MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials (inception-June 2019) for randomized controlled trials that reported the effect of SGLT2 inhibitors compared with placebo on cardiovascular outcomes in adults with type 2 diabetes. Two reviewers independently extracted data and assessed study quality. Random effects meta-analyses, stratified meta-analyses and meta-regressions were conducted to evaluate the association between blood pressure reduction in SGLT2 inhibitor treated patients and cardiovascular outcomes. RESULTS: Of 11,232 articles identified, 40 articles (n = 54,279 participants) were included. The relative risk of cardiovascular mortality was reduced by 18% with the use of SGLT2 inhibitors compared with placebo (RR 0.82; 95%CI 0.74, 0.91, I2 = 0.0%). Meta-regression analysis revealed no detectable difference in cardiovascular mortality (RR 0.93; 95%CI 0.88, 1.13, p = 0.483), 3-point major adverse cardiovascular events (p = 0.839) or congestive heart failure hospitalizations (p = 0.844) with change in mean systolic blood pressure. CONCLUSIONS: Cardiovascular events are reduced in participants with type 2 diabetes treated with SGLT2 inhibitors compared with placebo. There was no significant relationship between the risk of developing adverse cardiovascular events and blood pressure reduction with SGLT2 inhibitors. There is insufficient evidence to suggest that blood pressure reduction is a significant contributor to the cardiovascular benefits observed.

9.
Clin Endocrinol (Oxf) ; 95(2): 332-343, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33638879

RESUMO

OBJECTIVE: Exercise is recommended for polycystic ovary syndrome (PCOS), but the most effective exercise prescription is unclear. This trial compared effects of high-intensity interval training (HIIT), continuous aerobic exercise training (CAET) and no-exercise control on reproductive, anthropometric and cardiometabolic outcomes in PCOS. DESIGN: Pilot randomized controlled trial. PARTICIPANTS: Previously inactive women aged 18-40 years with PCOS. MEASUREMENTS: Feasibility outcomes included recruitment, retention, adherence to exercise and daily ovulation prediction kit (OPK) testing. Preliminary efficacy outcomes included reproductive, anthropometric and cardiometabolic health markers. RESULTS: Forty-seven women were randomized to no-exercise control (n = 17), HIIT (n = 16), or CAET (n = 14). Forty (85%) participants completed the trial. Median exercise adherence was 68% (IQR 53%, 86%). Median daily OPK-testing adherence in the first half of the intervention was 87% (IQR 61%, 97%) compared with 65% (IQR 0%, 96%) in the second half. Body mass index decreased significantly in CAET compared with control (-1.0 kg/m2 , p = .01) and HIIT (-0.9 kg/m2 , p = .04). Mean waist circumference decreased in all groups (-7.3 cm, -6.9 cm, -4.5 cm in HIIT, CAET and control) with no significant between-group differences. Mean LDL-C was significantly reduced for HIIT compared to CAET (-0.33 mmol/L, p = .03). HDL-C increased in HIIT compared with control (0.18 mmol/L, p = .04). CONCLUSIONS: There were feasibility challenges with adherence to daily ovulation assessment limiting the ability to analyse the effect of the exercise interventions on ovulation. CAET and HIIT were both effective at improving anthropometrics and some cardiometabolic health markers. Further studies need to determine optimal and acceptable exercise prescriptions for this population.


Assuntos
Síndrome do Ovário Policístico , Exercício Físico , Terapia por Exercício , Feminino , Humanos , Projetos Piloto , Síndrome do Ovário Policístico/terapia , Comportamento Sedentário
10.
Int J Pediatr Otorhinolaryngol ; 138: 110319, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32882602

RESUMO

INTRODUCTION: The Breatheasy© Tracheostomy Program based at the Red Cross War Memorial Children's Hospital, Cape Town, manages children mostly from poor socio-economic backgrounds. In our resource-limited setting, it is unclear how these families cope with the demands of a tracheostomised child. We aim to assess the quality of life (QOL) of tracheostomised children and their families as the first study of its kind in a low-resource setting. METHODS: A descriptive, observational study was done to assess the QOL of tracheostomised children managed by the Breatheasy© Program over 10 months. Children with tracheostomies for longer than 6 months, complex syndromic children, and home ventilated children were included. The validated Paediatric Tracheotomy Health Status Instrument (PTHSI) was utilised, where a higher score implied a better outcome. RESULTS: A total of 68 families were recruited. In 57 (85.1%) of the carers, the highest level of education achieved was primary or high school. Twenty-seven (42%) families reported having an annual household income of less than $675 US Dollars (

Assuntos
Qualidade de Vida , Traqueostomia , Cuidadores , Criança , Países em Desenvolvimento , Nível de Saúde , Humanos , África do Sul
11.
Can J Diabetes ; 44(8): 680-687.e2, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32654972

RESUMO

OBJECTIVES: Randomized, controlled trials have shown that exercise interventions reduce the incidence of type 2 diabetes in people with impaired glucose tolerance, and improve glycemic control, body composition and cardiorespiratory fitness in people with type 2 diabetes. We undertook the present systematic review to determine the extent to which participants in structured exercise trials continue to be physically active after the end of the interventions. METHODS: We systematically searched MEDLINE, EMBASE, CINAHL, SPORTDiscus and Cochrane Central Register of Controlled Trials for randomized, controlled trials that reported objective or self-reported physical activity levels in people with type 2 diabetes or prediabetes a minimum of 3 months after the end of a structured exercise intervention. This systematic review was registered on PROSPERO (PROSPERO CRD42018089468). RESULTS: Of 14,649 articles retrieved, 5 randomized, controlled trials (including 549 participants) were included in this systematic review. One study revealed significant improvements in self-reported physical activity levels in the intervention group compared with the control group 1, 3 and 5 years after baseline assessments, and decreased waist circumference, weight and body mass index at 1 year, but not 3 or 5 years. The 4 remaining studies did not find between-group differences at follow-up timepoints between 6 months and 3 years. CONCLUSIONS: Future research should report physical activity levels at follow up to determine whether participation in a structured exercise intervention results in sustained increased physical activity levels. In addition, interventions should be evaluated for their effectiveness in improving adherence to long-term physical activity.


Assuntos
Índice de Massa Corporal , Diabetes Mellitus Tipo 2/terapia , Terapia por Exercício/métodos , Estado Pré-Diabético/terapia , Peso Corporal , Humanos , Prognóstico
12.
Med Sci Sports Exerc ; 52(9): 1960-1965, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32175973

RESUMO

INTRODUCTION: The Diabetes Aerobic and Resistance Exercise trial found that aerobic training and resistance training alone each reduced hemoglobin A1c (HbA1c) compared with nonexercising controls, and combined aerobic and resistance training caused greater HbA1c reduction than either training type alone. Our objective was to determine whether a dose-response relationship existed between frequency of exercise training and HbA1c change, and whether this varied by exercise modality or participant characteristics. METHODS: Post hoc analysis of data from 185 Diabetes Aerobic and Resistance Exercise trial participants with type 2 diabetes randomized to aerobic, resistance or combined training thrice weekly. Dose-response relationships between adherence (percent of prescribed training sessions completed) and HbA1c change were assessed with linear regression. RESULTS: Median overall adherence was 84.9% (interquartile range, 74.4%-93.6%). Higher exercise adherence was associated with greater HbA1c reduction; a 20% increase in adherence (e.g., an additional two sessions per month) was associated with a 0.15% (2 mmol·mol) decrease in HbA1c (ß = -0.0076, R = -0.170, P = 0.021). Significant dose-response relationships were identified for aerobic (ß = -0.0142, R = -0.313, P = 0.016) and combined training (ß = -0.0109, R = -0.259, P = 0.041), but not resistance training (ß = 0.0068, R = 0.153, P = 0.233). Dose-response relationships in all training groups combined were significant in subgroups younger than 55 yr (ß = -0.0113, R = -0.286, P = 0.005), males (ß = -0.0123, R = -0.234, P = 0.010), and baseline HbA1c ≥7.5% (58 mmol·mol) (ß = -0.013, R = -0.263, P = 0.011). CONCLUSIONS: There was a dose-response relationship between adherence to prescribed exercise and HbA1c reduction suggesting that glycemic control is improved more in individuals with type 2 diabetes with a higher training volume. Dose-response relationships existed for aerobic and combined training but not resistance training. These findings support aerobic and combined exercise prescriptions outlined in clinical practice guidelines.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/terapia , Terapia por Exercício/métodos , Hemoglobinas Glicadas/metabolismo , Feminino , Controle Glicêmico , Humanos , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Treinamento Resistido
13.
Semin Pediatr Neurol ; 26: 10-14, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29961494

RESUMO

This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11-month-old affected male infant. He has required long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he had limited recovery of motor function. His respiratory chain enzyme studies were abnormal suggestive of mitochondrial (mt) dysfunction. In the setting of limited resources, recognition of this striking clinical phenotype is important to highlight, specifically regarding the genetic implications of the condition and the potentially remedial response to vitamin supplementation.


Assuntos
Paralisia Bulbar Progressiva/terapia , Perda Auditiva Neurossensorial/terapia , Proteínas de Membrana Transportadoras/deficiência , Proteínas de Membrana Transportadoras/genética , África Subsaariana , Paralisia Bulbar Progressiva/genética , Paralisia Bulbar Progressiva/patologia , Paralisia Bulbar Progressiva/fisiopatologia , Suplementos Nutricionais , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Lactente , Masculino , Fenótipo , Riboflavina/administração & dosagem
14.
J Paediatr Child Health ; 54(3): 247-253, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28960591

RESUMO

AIM: To describe the causes, clinical presentation and neurological outcome of acute flaccid paralysis in children. METHODS: A retrospective study in a tertiary paediatric hospital in South Africa. Data on clinical presentation, respiratory complications and long-term neurological outcomes of children presenting with acute flaccid paralysis were collected. Logistic regression analysis was applied to determine predictors for the need of mechanical ventilation. RESULTS: The study included 119 patients, 99 of whom had Guillain-Barré syndrome (GBS); 47 patients (39.5%) required mechanical ventilation. Backward logistic regression analysis revealed that bulbar dysfunction (P < 0.001), autonomic dysfunction (P = 0.003) and upper limb paralysis (P = 0.038) significantly predicted the need for mechanical ventilation. EuroQol-5D scores of self-care problems and usual activities after discharge significantly declined over time. CONCLUSIONS: In this large series from Africa, GBS was the main cause of acute flaccid paralysis in children and was associated with significant morbidity. Other causes of acute flaccid paralysis mimicking GBS were not uncommon and should be excluded in this setting.


Assuntos
Síndrome de Guillain-Barré/complicações , Hipotonia Muscular/etiologia , Paralisia/etiologia , Respiração Artificial , Atividades Cotidianas , Pré-Escolar , Feminino , Síndrome de Guillain-Barré/mortalidade , Síndrome de Guillain-Barré/terapia , Humanos , Lactente , Modelos Logísticos , Masculino , Respiração Artificial/estatística & dados numéricos , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Estudos Retrospectivos , África do Sul/epidemiologia
15.
Aust Prescr ; 40(3): 109, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28798517
16.
Pediatr Allergy Immunol Pulmonol ; 30(3): 163-170, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35923010

RESUMO

Poor socioeconomic circumstances and poverty are perceived to be barriers to successful home ventilation. Pediatric home ventilation has escalated rapidly in high-income countries but is underreported and underfunded in low-middle income countries. A retrospective chart review covering the past 20 years was carried out at the Red Cross War Memorial Children's Hospital in Cape Town, South Africa, a low-middle income country. Data collection included demographics, socioeconomic and family factors, clinical information, and ventilation-related information. Fifty-five children received home ventilation between 1994 and December 2015 from a median age of 3.5 years (range 0.4-17.6). Thirty-nine (71%) children received invasive ventilation and 16 (29%) children received mask-assisted ventilation. Most common primary diagnosis was a neuromuscular disease (60%). Twenty-six children (47%) were still on home ventilation in December 2015, 8 (15%) had been weaned off ventilation, and 21 (38%) had died. Median time between initiation of ventilation and discharge was 15 days (range 1-52) for mask-assisted ventilation and 88 days (8-991) for tracheostomy-assisted ventilation. Of the total 40 readmissions in the first year of home ventilation, 34 (85%) were emergency readmissions mainly necessitated by respiratory infections (n = 26; 65%). Despite a high prevalence of socioeconomic challenges, 89% of the children were successfully discharged on home ventilation. Main cause of death was acute infections (n = 11; 52%). Pediatric home ventilation in South Africa is feasible despite difficult socioeconomic circumstances. Survival outcome was comparable with that of high-income countries. However, a high level of psychosocial support and interventions is needed.

18.
Int J Pediatr Otorhinolaryngol ; 84: 161-5, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27063774

RESUMO

BACKGROUND: Children discharged home with a tracheostomy need a safe home environment and access to health care. We described the indications, clinical characteristics, socio-economic circumstances and outcomes of children enroled in a tracheostomy home care programme in South Africa. METHODS: We performed a retrospective chart review of children receiving a tracheostomy and enroled in the Breatheasy programme at the Red Cross War Memorial Children's Hospital, Cape Town. Medical and background characteristics were recorded. Influences of socio-economic variables and underlying medical conditions on length of hospital stay, unplanned readmissions and mortality in the first year after discharge were evaluated. RESULTS: In the period 2008-2012, 157 patients were discharged home with a tracheostomy. Median hospital stay after tracheostomy insertion was significantly longer when parents had incomplete schooling compared to completed secondary school or higher education; 30 days (IQR 21-53) versus 23 days (IQR 16-33), respectively. Unplanned readmissions in the first year were documented for 72 patients (45.9%). The risk for unplanned readmission was 2.6 times higher in families with substance abuse the risk of respiratory infections was two-fold in case of household cigarette smoke exposure (OR 2.3.) Tracheostomy-related mortality was low (1.2%). An underlying medical condition was the only independent significant risk factor for mortality (OR 5.1, 95% CI 1.8-14.3). CONCLUSION: This study demonstrates that despite difficult socio-economic circumstances, home ventilation of children with a tracheostomy is safe, provided caregivers are adequately trained and supported.


Assuntos
Serviços de Assistência Domiciliar , Respiração Artificial , Traqueostomia , Adolescente , Cuidadores , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Avaliação de Processos e Resultados em Cuidados de Saúde , Readmissão do Paciente/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Fatores Socioeconômicos , África do Sul
19.
Am J Nephrol ; 41(2): 129-37, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25790847

RESUMO

BACKGROUND: Denosumab, a RANK-ligand inhibitor, is an effective treatment for osteoporosis in postmenopausal women and men. Unlike the bisphosphonates, it is not excreted by the kidney. Little is known, however, about its efficacy and safety in patients with severe chronic kidney disease (CKD). METHODS: A retrospective study was performed in CKD 4-5D patients from a tertiary referral hospital who were treated with denosumab between 1st January 2011 and 31st March 2014. Data collected included information about the following: CKD stage, fracture history, bone mineral density, serum calcium levels pre and post denosumab treatment, episodes of hypocalcemia, relevant medications and adverse events. RESULTS: Eight patients with CKD-5 and 6 patients with CKD-4 were identified (all female, mean age 77.1 ± 9.9). The mean pre-denosumab calcium value was 2.42 ± 0.12 mmol/l, PTH 20.2 ± 14.7 pmol/l and 25-OH vitamin D 69.1 ± 30.1 nmol/l. After denosumab treatment, 6/8 patients with CKD-5/5D, and 2/5 patients with CKD-4 developed severe hypocalcemia. Two patients developed direct adverse complications of hypocalcemia (seizure, laryngospasm, prolonged QTc). Among the patients who developed hypocalcemia, the median time to serum calcium nadir was 21 days and the median time to correction of hypocalcemia was 71 days. Treatment of hypocalcemia required large doses of oral calcium and calcitriol, and increases in dialysate calcium concentration. CONCLUSIONS: A high rate of severe hypocalcemia was observed in patients with advanced CKD treated with denosumab. If denosumab is used in patients with severe CKD, close monitoring and aggressive replacement of calcium and calcitriol is required to avoid the development of hypocalcemia.


Assuntos
Conservadores da Densidade Óssea/efeitos adversos , Denosumab/efeitos adversos , Hipocalcemia/induzido quimicamente , Falência Renal Crônica/sangue , Falência Renal Crônica/tratamento farmacológico , Absorciometria de Fóton , Idoso , Idoso de 80 Anos ou mais , Fosfatase Alcalina/sangue , Densidade Óssea , Cálcio/sangue , Feminino , Humanos , Hipocalcemia/sangue , Hipocalcemia/tratamento farmacológico , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Insuficiência Renal Crônica/sangue , Insuficiência Renal Crônica/tratamento farmacológico , Estudos Retrospectivos , Vitamina D/análogos & derivados , Vitamina D/sangue
20.
Clin Neuropsychol ; 28(1): 128-45, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24354897

RESUMO

Many studies have observed an association between post-traumatic stress disorder (PTSD) and cognitive deficits across several domains including memory, attention, and executive functioning. The inclusion of response bias measures in these studies, however, remains largely unaddressed. The purpose of this study was to identify possible cognitive impairments correlated with PTSD in returning OEF/OIF/OND veterans after excluding individuals failing a well-validated performance validity test. Participants included 126 men and 8 women with a history of mild traumatic brain injury (TBI) referred for a comprehensive neuropsychological evaluation as part of a consortium of five Veterans Affairs hospitals. The PTSD CheckList (PCL) and Word Memory Test (WMT) were used to establish symptoms of PTSD and invalid performance, respectively. Groups were categorized as follows: Control (PCL < 50, pass WMT), PTSD-pass (PCL ≥ 50, pass WMT), and PTSD-fail (PCL ≥ 50, fail WMT). As hypothesized, failure on the WMT was associated with significantly poorer performance on almost all cognitive tests administered; however, no significant differences were detected between individuals with and without PTSD symptoms after separating out veterans failing the WMT. These findings highlight the importance of assessing respondent validity in future research examining cognitive functioning in psychiatric illness and warrant further consideration of prior studies reporting PTSD-associated cognitive deficits.


Assuntos
Cognição , Testes Neuropsicológicos , Desempenho Psicomotor , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/psicologia , Veteranos/psicologia , Adulto , Lesões Encefálicas/complicações , Lesões Encefálicas/psicologia , Disfunção Cognitiva/etiologia , Feminino , Humanos , Entrevistas como Assunto , Masculino , Anamnese , Memória , Transtornos Mentais/complicações , Reprodutibilidade dos Testes , Transtornos de Estresse Pós-Traumáticos/complicações
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