Medicina
-
Fabry disease is an X-linked inherited lysosomal storage disorder with a deficiency of α-galactosidase A activity, which results in the intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in various organs. Fabry nephropathy is one of the major complications of Fabry disease, and kidney damage is often related to cardiovascular disease and mortality. ⋯ In this review, we summarize the efficacy of these treatment options for Fabry nephropathy with respect to renal function, proteinuria, and renal pathological findings. We also describe the importance of adjunctive therapy for Fabry nephropathy.
-
Review Case Reports
Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis.
Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. ⋯ Following the diagnosis, the patients began a process of close periodic checks every 3-4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.
-
Background and Objectives: Cardiovascular disease (CVD) is a major contributor to the high mortality rate among individuals with ovarian cancer. Nevertheless, there is limited understanding regarding the specific patient attributes that might impact the risk of CVD in this group. Materials and Methods: A retrospective cohort study was performed using the SEER database to analyze primary ovarian cancer cases from 2000 to 2019. ⋯ Additionally, bilateral ovarian cancer and distant staging disease were linked to elevated risks of cardiovascular cause of death. Conclusion: Cardiovascular mortality is a significant concern in ovarian cancer patients, and several patient characteristics are associated with an increased risk. Our study suggests that targeted interventions to improve cardiovascular health in high-risk patients, such as those with comorbidities or an advanced stage at diagnosis, may improve survival in this population.
-
Background and Objectives: Bethesda III (BIII) thyroid nodules have an expected malignancy rate of 5-15%. Our purpose was to assess which US criteria are most associated with cancer risk, and the value of critical ultrasound (US) reassessment. Methods: From 2018 to 2022, 298 BIII nodules were enrolled for thyroidectomy (79 malignancies). ⋯ These signs allowed for a modification of the strategy in favor of surgery in 96% of the cases that were not otherwise referred to surgery. The importance of integrating ultrasound and cytology in the evaluation of BIII thyroid nodules is confirmed. Reassessment with ultrasound of BIII nodules allowed for a redirection of the surgical choice.
-
Background and Objective: To examine the effects of the lockdown on diet adherence and stress levels in patients with laryngopharyngeal reflux (LPR). Materials and Methods: Patients with a positive LPR diagnosis at the hypopharyngeal-esophageal impedance-pH monitoring were treated from a pre- to lockdown period with a 3-month high-protein, low-fat, alkaline, plant-based diet, with behavioral changes, and an association of pantoprazole (20 MG/d) and alginate (Gaviscon 3/d). The following patient-reported outcomes questionnaire and findings instrument were used: Reflux Symptom Score-12 (RSS-12) and Reflux Sign Assessment (RSA). ⋯ The increase in stress level was positively associated with the lack of adherence to diet (rs = 0.367; p = 0.039). Conclusions: During the lockdown, the diet habits of LPR patients were improved in one-third and unchanged in 44% of cases. The stress level was increased in one-third of patients, which was associated with an increase in symptom scores.