RESUMEN
Osteogenesis imperfecta (OI) is a genetically inherited disorder that mainly affects the bones and causes a generalized decrease in bone mass. OI has a broad clinical spectrum ranging from the most severe form of OI which may cause in-utero death or stillbirth to the milder form. Clinical manifestations normally mitigate with an increase in age. We report a case of a healthy 12-year-old male who presented with a spontaneous fracture of the femur without trauma. The patient has no previous history of fractures, bone deformities or systemic conditions. The initial physical examination was unremarkable except for a bilateral subtle grayish sclera. Calcium, phosphorus, vitamin D, blood urea nitrogen (BUN), creatinine, and parathyroid hormone (PTH) values were within normal range. After genetic testing, the patient was diagnosed with OI due to a pathogenic COL1A2 (c.964G>A [p.Gly322Ser]) mutation. The first manifestation was at 12 years of age with a femur spontaneous fracture, which brings to the fact that the patient has a late onset of OI.
RESUMEN
BACKGROUND AND OBJECTIVES: Primary care physician shortage represents a challenge for many countries and territories, including Puerto Rico (PR), where a significant proportion of the graduating medical students preferred the continental United States (C-US) to complete their training and even as the definitive setting for their practice. We surveyed medical students who graduated from medical schools in PR and have been accepted in a residency program to evaluate the influence of a set of demographics, academic, and personal factors in their decision to pursue a primary care residency program in the C-US. METHODS: A 19-item questionnaire was distributed by institutional email to those medical students who graduated from one of the four Liaison Committee on Medical Education fully accredited medical schools in PR in 2019. We summarized our data by frequency and percentages. We performed data analysis with statistical significance considered for P values <.05. RESULTS: The questionnaire had a response rate of 51% (138/273), where 49% (67/138) were accepted in a primary care residency. Sixty percent (40/67) matched in a primary care program in the C-US. Among the evaluated factors, a prior degree in C-US (65%) and first-degree relatives living in the C-US (70%) were associated with students who matched in the mainland. First-degree relatives living in PR (96%) were associated with students who remained on the island for training. CONCLUSIONS: The results provide insight into the influence that personal factors have on the decision of medical students in PR to pursue primary care training in the C-US.