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1.
Am J Med Genet A ; 182(10): 2253-2262, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32851773

RESUMO

Coffin-Siris syndrome (CSS; OMIM #135900) is a rare, multisystem syndrome caused by pathogenic variants in genes encoding the BRG-1 associated factors complex (BAF). Individuals with CSS often present with feeding difficulties and failure to thrive during infancy, in addition to a number of variable congenital anomalies. Nutritional interventions are used to support growth in this population, and growth hormone therapy has been reported in a limited number of cases. The purpose of this study was to construct CSS-specific growth charts to better characterize the growth in this population. Anthropometric data were collected from 99 individuals enrolled in the CSS/BAF pathway international registry via a retrospective chart review. All measurements obtained after the first exposure to growth hormone therapy were excluded from this analysis. Sex-specific centiles (5th, 50th, and 95th) were estimated for height, weight, and head circumference from birth to age 10. Cubic smoothing splines were then fit to the centile estimates and superimposed on normative male and female growth curves for comparison. The CSS patients in this cohort exhibited normal growth parameters at birth. By age 10, the weight and head circumference of the CSS cohort began to approach normal parameters. Stature, however, remained shortened at 10 years of age.


Assuntos
Anormalidades Múltiplas/genética , DNA Helicases/genética , Face/anormalidades , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Criança , Pré-Escolar , Face/fisiologia , Feminino , Gráficos de Crescimento , Humanos , Lactente , Recém-Nascido , Masculino , Pescoço/fisiologia
2.
J Opioid Manag ; 17(4): 343-352, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34533829

RESUMO

OBJECTIVE: Hospital resource utilization is reported to be higher among patients with opioid use disorder (OUD) compared with those without OUD at national and local levels. However, utilization of healthcare services associated with OUD in North Carolina (NC) has not been adequately characterized. We describe inpatient hospital resource utilization among adults with an OUD-diagnosed in NC and the United States (US). We hypothesize that hospitalized adults with OUD will have longer hospital stays, more frequent use of emergency services, a higher number of diagnoses, and comparable hospital charges compared with hospitalized adults without OUD. DESIGN: A retrospective cross-sectional study analyzing hospital discharge abstracts included in the 2016 NC State Inpatient Databases (SIDs) and the 2016 National Inpatient Sample (NIS). OUD and non-OUD groups were compared using the Student's t-test for continuous variables and the χ2 test for categorical variables. PARTICIPANTS: Adults 18 years and older from SID (n = 25,871) and NIS (n = 148,255) databases were included in the analysis. MAIN OUTCOME MEASURES: Length of stay (LOS), use of emergency services, discharge diagnosis, and hospital charge among hospitalized adults with OUD. RESULTS: In NC, patients with OUD were younger (age 18-35), more likely to be white, and more likely to be hospitalized in areas with the lowest median income compared with patients without OUD. Compared to the US, twice as many NC OUD patients were self-payers. Hispanic patients, Medicare beneficiaries, and those in the highest income areas experienced the longest LOS and highest hospital charge. Patients with OUD were more likely to have five or more diagnoses and those with five or more diagnoses had higher LOS and hospital charges. OUD hospitalizations were also associated with more frequent use of emergency services. The most common co-occurring diagnoses were psychoses, substance abuse or dependence, and septicemia or severe sepsis. CONCLUSION: High percentages of self-payers and lower-income OUD patients indicate the need for Medicaid eligibility outreach programs in NC. High LOS and hospital charges among Hispanic, Medicare-covered, and high-income OUD patients call for a more detailed examination to identify underlying causes of disproportionate resource utilization in NC hospitals.


Assuntos
Medicare , Transtornos Relacionados ao Uso de Opioides , Adolescente , Adulto , Idoso , Analgésicos Opioides/uso terapêutico , Estudos Transversais , Hospitalização , Humanos , North Carolina/epidemiologia , Transtornos Relacionados ao Uso de Opioides/diagnóstico , Transtornos Relacionados ao Uso de Opioides/epidemiologia , Estudos Retrospectivos , Estados Unidos/epidemiologia , Adulto Jovem
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