Medicina
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Case Reports
Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.
Purpose: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p. Tyr142Cys) heterozygous mutation in the cone-rod homeobox gene (CRX gene) in two unrelated Italian patients. Case 1: A 67-year-old woman (P. ⋯ Similarly to the first case, during the whole follow-up of 7 years, the visual acuity remained stable, as did the visual field and the patient's symptoms. Conclusions: We report the first cases of late-onset retinitis pigmentosa related to a specific heterozygous CRX gene mutation in exon 4. We also report two atypical phenotypic RP patterns related to mutations in the CRX gene.
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Backgrounds and Objectives: Using certain medications during an intercurrent illness can increase the risk of drug related problems (DRP) occurring such as acute kidney injury (AKI). Medications that increase this risk include sulfonylureas, angiotensin converting enzyme inhibitors, diuretics, metformin, angiotensin receptor blockers, non-steroidal anti-inflammatories drugs, and sodium glucose co-transporter 2 inhibitors (SADMANS). Sick day medication guidance (SDMG) recommends withholding SADMANS medications during an intercurrent illness where adequate fluid intake cannot be maintained. ⋯ Conclusions: We conclude that DRP remain prevalent in community pharmacy settings. Sick day recommendations were not provided in the HMRs included in our study, possibly due to lack of pharmacist knowledge and awareness. To ensure best practice, more research should be conducted to determine pharmacists' knowledge of and barriers to provision of sick day recommendations.
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Background and Objectives: Although nonsuicidal self-injury (NSSI), by definition, excludes suicidal intent, numerous studies show associations between NSSI and suicidal phenomena in clinical and outpatient adolescent samples. Given the growing interest in the relationship between NSSI and suicidal phenomena, the present study aimed to investigate the relationship between NSSI and suicidal beliefs in adolescent psychiatric inpatients. Materials and Methods: The study sample included 50 adolescent inpatients at a specialized facility, with a mean age of 15.44 ± 1.39, who fulfilled DSM-5 criteria for NSSI. ⋯ It was found that the B-SCS score is significantly related to Internal ER (r = 0.441, p < 0.001) and Craving (r = 0.297, p = 0.036). The multivariable model shows that internal ER function and participants' age are significantly related to the B-SCS score. Conclusion: Despite the limitations of the study, it is emphasized that cognitions occurring across the fluid suicidal belief system alone do not fully capture the complexity of suicide, but assessing the suicidal belief system in NSSI inpatient adolescents could nevertheless provide helpful information for identifying individuals who may have an elevated vulnerability to experiencing suicidal ideas and behaviors over time.
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Background and Objectives: Non-Hodgkin lymphoma (NHL) has the sixth-highest malignancy-related mortality in the United States (US). However, inequalities exist in access to advanced care in specific patient populations. We aim to study the racial disparities in major adverse cardiovascular and cerebrovascular events (MACCEs) in NHL patients. ⋯ Acute myocardial infarction (AMI) was noted to have a statistically significantly lower aOR in Black patients (0.70, 95% CI 0.60-0.81, p < 0.001), Hispanic patients (0.69, 95% CI 0.59-0.80, p < 0.001), and patients of other races (0.57, 95% CI 0.43-0.75, p < 0.001) as compared to White patients. Conclusions: Racial disparities are found in MACCEs among NHL patients, which is likely multifactorial, highlighting the need for healthcare strategies stratified by race to mitigate the increased risk of MACCEs. Further research involving possible epigenomic influences and social determinants of health contributing to poorer outcomes in Black and Asian/Pacific Islander patients with NHL is imperative.
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Review
BIA-ALCL and BIA-SCC: Updates on Clinical Features and Genetic Mutations for Latest Recommendations.
Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL) and Breast Implant-Associated Squamous Cell Carcinoma (BIA-SCC) are emerging neoplastic complications related to breast implants. While BIA-ALCL is often linked to macrotextured implants, current evidence does not suggest an implant-type association for BIA-SCC. Chronic inflammation and genetics have been hypothesized as key pathogenetic players, although for both conditions, the exact mechanisms and specific risks related to breast implants are yet to be established. ⋯ To date, the mainstay of treatment for BIA-ALCL and BIA-SCC is implant removal with en-bloc capsulectomy. Chemotherapy and radiation therapy have also been used for advanced-stage BIA-ALCL and BIA-SCC. In-depth characterization of the tumor genetics is key for the development of novel therapeutic strategies, especially for advanced stage BIA-ALCL and BIA-SCC, which show a more aggressive course and poor prognosis.