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1.
BMJ Open Ophthalmol ; 8(1)2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37797981

RESUMEN

OBJECTIVE: Functional outcomes following facial and ocular trauma are time-sensitive and require prompt evaluation to minimise long-term vision loss, yet few studies have systematically evaluated disparities in the management of these cases. This study investigates whether a patient's race/ethnicity, primary language, insurance status, gender or age affects receipt of ophthalmology consultation for facial trauma. METHODS AND ANALYSIS: This study was a retrospective cohort analysis of patients from the Elmhurst City Hospital Trauma Registry in Queens, New York who were seen for facial trauma including open globe injuries and orbital fractures between January 2014 and May 2016. RESULTS: Of the 264 patients included, 43% reported as Hispanic, 23% white, 11% Asian, 8% black and 15% other/unknown. After controlling for confounding variables by multivariable logistic regression, neither race/ethnicity, gender, nor primary language were significantly associated with the likelihood of receiving an ophthalmology consult. However, patients with private insurance had 2.57 times greater odds of receiving an ophthalmology consultation than those with Medicaid or state corrections insurance (95% CI 1.37 to 4.95). As age increased, the likelihood of receiving an ophthalmology consultation decreased (p=0.009); patients 60 years of age and older had one-third the odds of ophthalmology consultation as younger patients (OR 0.33; 95% CI 0.16 to 0.68). CONCLUSIONS: This study highlights that lack of ophthalmology consultation in patients with facial trauma is linked to age and underinsurance. Extra attention must be paid during primary assessments to ensure elderly patients and those with public insurance have equitable access to timely and appropriate care for facial trauma.


Asunto(s)
Oftalmología , Estados Unidos , Humanos , Anciano , Estudios Retrospectivos , Disparidades Socioeconómicas en Salud , Etnicidad , Derivación y Consulta
2.
Bone ; 123: 153-158, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30914275

RESUMEN

Brachydactyly type E, which can be an isolated finding or part of a syndrome in combination with other clinical anomalies, involves metacarpals and metatarsals with or without short phalanges. Herein we report two unrelated Turkish females who presented with brachydactyly type E and vitamin D deficiency in the absence of marked alterations in serum calcium, phosphate, and parathyroid hormone. After excluding disease-causing variants in two candidate genes, PTHLH and PDE4D, we identified different pathogenic variants in TRPS1, the gene mutated in patients with tricho-rhino-phalangeal syndrome (TRPS). In one of the patients, who displayed severe brachydactyly and short stature, we identified a novel heterozygous missense pathogenic variant in exon 6 (c.2783A>G, p.Tyr928Cys), located within the GATA DNA-binding domain. The second patient, who had relatively milder brachydactyly and was of normal height, carried a heterozygous nonsense pathogenic variant in exon 4 (c. 1870C>T, p.Arg624Ter), which has been previously described. Both pathogenic variants segregated in affected family members. The patients additionally showed sparse hair and a bulbous nose, consistent with the clinical features of TRPS. Our findings, in addition to identifying the genetic cause of brachydactyly in two unrelated kindreds, emphasize the role of pathogenic TRPS1 variants in the development of brachydactyly type E and highlight the GATA DNA-binding region of TRPS1 protein with respect to phenotype-genotype correlation.


Asunto(s)
Braquidactilia/genética , Proteínas de Unión al ADN/genética , Enanismo/genética , Factores de Transcripción GATA/genética , Variación Genética/genética , Proteínas Represoras/genética , Adolescente , Adulto , Braquidactilia/diagnóstico por imagen , Enanismo/diagnóstico por imagen , Femenino , Humanos , Linaje , Índice de Severidad de la Enfermedad
3.
Ann Med Surg (Lond) ; 35: 25-28, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30263114

RESUMEN

BACKGROUND: Limited health literacy has been associated with poorer health outcomes and increased morbidity and mortality. Though caring for surgical patients requires communication about complex topics, there is limited literature on health literacy competency in this population. The objective of this study was to assess health literacy in an adult surgical outpatient clinic population, to explore potential determinants of adequate health literacy, and to assess patient satisfaction with physician-patient communication. MATERIALS AND METHODS: A prospective cross-sectional study was performed and anonymous data including health literacy, demographics, and patient satisfaction with provider communication were collected. The study population included adult patients who visited an outpatient surgical practice over a one-month period. Health literacy was assessed using the Newest Vital Sign while the satisfaction questions came from the Outpatient Satisfaction Survey (Press-Ganey Associates, Chicago, IL). RESULTS: 148 patients participated in the study. The mean age was 49 years, 41% of those who gender identified were male, and 76% were White/Caucasian. 34 (27%) of those who answered the question had received a four-year undergraduate/university degree. 55 (37%) of the patients were identified as having low health literacy. More years of education was significantly associated with adequate health literacy and those patients who were more educated and had adequate health literacy were more satisfied with provider communication. CONCLUSION: Patients on average were highly satisfied with provider communication in this outpatient surgical clinic. Higher education levels were associated with better health literacy and patients with both characteristics were more satisfied with provider communication.

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