RESUMEN
BACKGROUND: Potential vitamin D-related influences on inflammatory diseases such as asthma are controversial, including the suggestion that vitamin D insufficiency is associated with increased asthma morbidity. Vitamin D-binding protein transports vitamin D metabolites in the circulation. Single nucleotide polymorphisms in the GC gene encoding vitamin D-binding protein are associated with circulating vitamin D metabolite levels in healthy infants and toddlers. OBJECTIVE: To test the hypothesis that GC single nucleotide polymorphisms encoding the D432E and T436K variants predict subsequent development of asthma in healthy children. METHODS: A retrospective medical record review was performed to determine the development of asthma in 776 children in whom GC genotype, vitamin D-binding protein concentration, and circulating 25-hydroxyvitamin D had been determined at 6 to 36 months of age. Demographic and detailed current clinical data were collected and criteria for asthma were recorded. RESULTS: GC genotype was available for 463 subjects. After an initial analysis of all subject data, the analysis was limited to the predominant Hispanic population (72.1%) to minimize potential confounding effects of ethnicity. Asthma was diagnosed in 87 children (26%). Subjects with the GC genotype encoding the ET/ET (Gc1s/Gc1s) variant had lower odds of developing asthma, representing a protective effect compared with subjects with the DT/DT (Gc1f/Gc1f) variant. CONCLUSION: In the Hispanic population of inner-city New Haven, Connecticut, the ET/ET (Gc1s/Gc1s) genotype of vitamin D-binding protein might confer protection against the development of asthma compared with the wild-type genotype DT/DT (Gc1f/Gc1f).
Asunto(s)
Asma/genética , Colestanotriol 26-Monooxigenasa/genética , Receptores de Calcitriol/genética , Proteína de Unión a Vitamina D/genética , Vitamina D/análogos & derivados , Preescolar , Connecticut , Familia 2 del Citocromo P450 , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Hispánicos o Latinos/genética , Humanos , Lactante , Masculino , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos , Vitamina D/sangre , Vitamina D/genética , Vitamina D/uso terapéutico , Proteína de Unión a Vitamina D/sangreRESUMEN
OBJECTIVE: The goal of this study was to compare rates of asthma action plan use by limited English proficiency (LEP) caregivers to English proficient (EP) caregivers. METHODS: A cross-sectional bilingual survey was distributed at an urban, academic, pediatric emergency department (PED). Surveys were completed by adult caregivers of children with asthma who sought PED care for asthma related chief complaints. LEP was defined as caregiver ability to speak English less than "very well". Data were analyzed using Fisher's exact test and odds ratios (OR). RESULTS: One hundred seven surveys were completed and analyzed. Fifty-one surveys (48%) were completed by LEP caregivers and 56 (52%) by EP caregivers. A 25% difference (p = .01) in action plan use rates between LEP caregivers (39%) and EP caregivers (64%) was observed. EP alone was associated with action plan use (OR 2.8 [95% CI 1.3-6.1]). Variables not associated with plan use included mother acting as caregiver (OR 2.1 [95% CI 0.7-7.0]), age of child >7 years (OR 1.0 [95% CI 0.5-2.4]), caregiver education ≥ associate degree (OR 1.4 [95% CI 0.6-3.0]), private insurance (OR 0.7 [95% CI 0.3-1.8]), White race (OR 0.7 [95% CI 0.2-2.2]), Latino ethnicity (OR 0.5 [95% CI 0.2-1.3]) and a federally qualified health center (OR 0.8 [95% CI 0.3-2.0]). The main caregiver reasons for plan use were feeling that a plan works/gets results, helps with symptom management and appreciation towards physician attentiveness when a plan is prescribed. The main caregiver reasons for non plan use were they were not informed/given an action plan or perceived the child's asthma as mild/well controlled. CONCLUSION: Compared with EP caregivers, those with LEP experience disparate rates of asthma action plan use.
Asunto(s)
Asma/terapia , Cuidadores/estadística & datos numéricos , Servicio de Urgencia en Hospital/estadística & datos numéricos , Lenguaje , Adolescente , Niño , Preescolar , Barreras de Comunicación , Recolección de Datos , Femenino , Humanos , Lactante , MasculinoRESUMEN
We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy (UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on a piece of meat. She received two chest tubes (pigtails) that resolved the pneumothorax. She was discharged in stable condition, and a chest radiograph two weeks later showed total resolution of the pneumothorax. Two months after this episode, the patient presented with another small, right-sided pneumothorax that shortly progressed to extension throughout the right side of the chest. These pneumothoraces were treated with three different pigtails, but this intervention was ineffective. Providers chose to utilize an autologous blood patch, which is an injection of the patient's own blood instilled in the pleural cavity through a chest drain. The blood forms a clot and subsequently seals the lung tissues through inflammation. This technique was chosen because the patient had advanced neuromuscular weakness with chronic respiratory failure. Also, our patient was not a candidate for chemical or surgical pleurodesis due to the nature of the persistent pneumothorax and the underlying lung fibrosis and collagen defect. Subsequent reaccumulation of the pneumothorax led to a second blood patch procedure, which proved effective. The patient recovered and was discharged in stable condition with no further episodes of pneumothorax over the subsequent 14 months from the initial episode.
RESUMEN
OBJECTIVE: To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant type 3 spinal muscular atrophy (SMA). METHODS: This was an 8-year retrospective observational study of patients in the International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), and noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) and revised Performance of Upper Limb (RULM) scores were correlated with respiratory function. We excluded patients in interventional clinical trials and on nusinersen commercial therapy. RESULTS: There were 437 patients with SMA: 348 with type 2 and 89 with nonambulant type 3. Mean age at first visit was 6.9 (±4.4) and 11.1 (±4) years. In SMA type 2, FVC%P declined by 4.2%/y from 5 to 13 years, followed by a slower decline (1.0%/y). In type 3, FVC%P declined by 6.3%/y between 8 and 13 years, followed by a slower decline (0.9%/y). Thirty-nine percent with SMA type 2% and 9% with type 3 required NIV at a median age 5.0 (1.8-16.6) and 15.1 (13.8-16.3) years. Eighty-four percent with SMA type 2% and 80% with type 3 had scoliosis; 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM scores in both subtypes. CONCLUSIONS: In SMA type 2 and nonambulant type 3, lung function declines differently, with a common leveling after age 13 years. Lung and motor function correlated in both subtypes. Our data further define the milder SMA phenotypes and provide information to benchmark the long-term efficacy of new treatments for SMA.
Asunto(s)
Internacionalidad , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/epidemiología , Atrofias Musculares Espinales de la Infancia/diagnóstico , Atrofias Musculares Espinales de la Infancia/epidemiología , Adolescente , Niño , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos Respiratorios/fisiopatología , Estudios Retrospectivos , Atrofias Musculares Espinales de la Infancia/fisiopatologíaRESUMEN
In this report, we present a complicated case of community-acquired pneumonia in a 5-year-old boy. The patient first presented to the pulmonology clinic with the diagnosis of asthma and a recent history of recurrent pneumonia. Poor compliance to two courses of outpatient oral antibiotics resulted in persistent pneumonia symptoms with unresolved radiographic findings warranting parenteral antibiotics. Despite 2 symptom-free weeks, the patient returned to the emergency department with recurrence of symptoms where imaging revealed a cavitary lesion requiring a prolonged course of parenteral antibiotics. This report further supports the detrimental impact of partially treated infections related to poor compliance to antibiotic regimens.