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BackgroundAmyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that dramatically affects patients’ quality of life (QoL) and dignity of life (DoL). We aimed to study the impact of ALS on QoL and DoL and how these evolve throughout the duration of the disease.MethodsFirst, we performed an observational, descriptive study of 43 patients with ALS recruited from the ALS unit at our center and compared them with 20 healthy age- and sex-matched controls. Second, we performed a prospective cohort study, following up 23 patients with ALS over 3 months. All participants completed questionnaires about their functional status, QoL, and DoL.ResultsQoL and DoL were significantly worse in the ALS group than in controls (both p < 0.001). During the three-month follow-up in the ALS cohort, statistically significant declines were observed in clinical status and QoL. For clinical status, median scores on the ALS Functional Rating scale changed from 30.95 points at baseline to 27.24 points after 3 months (p = 0.0003). For QoL, median scores on the ALS Assessment Questionnaire changed from 124.19 points at baseline to 131.81 at 3 months (p = 0.0062). However, no significant differences were found between the DoL scores at baseline (48.14 points) and 3 months (45 points) (p-value = 0.12).ConclusionsALS is a neurodegenerative disease that affects QoL and DoL alike. We found that clinical status and QoL both deteriorated in patients with ALS as the disease progressed, but that DoL was preserved. However, our findings are limited by small sample sizes. The preservation of DoL may be due to multiple factors, including the therapies provided by the ALS unit. These findings suggest that alongside QoL, DoL may be an important target in the management and care of ALS patients.

Case Report: A 10-year-old male was referred to our institution due to short stature and bilateral cryptorchidism and reported pubic hair development and acne since the age of 4 years. Laboratory and molecular genetic tests indicated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. After treatment with prednisone, adrenal hormones normalised but testosterone remained elevated. Magnetic resonance imaging of the abdomen due to cryptorchidism revealed uterus and adnexal attachments, a prostate and poorly defined nodules on the iliac chains. Upon exploratory laparotomy, a hysterectomy, bilateral oophorectomy and resection of a peri-adnexal nodular lesion on the patient's right side were performed. Histopathology of the nodule mass was compatible with a Leydig cell tumour with a low proliferation rate according to Ki67.

Background. Renal transplantation (Tx) influences bone mineral density (BMD) by several mechanisms. The main objective of this study was to correlate BMD and risk factors associated with bone loss in patients submitted to kidney Tx. Methods. We evaluated 88 individuals after renal Tx (median time = 31.5 months since Tx). All of them sustained glomerular filtration rate ≥60 mL/min/1.73 m2. BMD was measured by dual-energy X-ray absorptiometry (DXA, Prodigy-GE). Calcium, phosphate, albumin, creatinine, and intact parathormone (PTH) were measured at the same time. All statistical tests were two-sided and P value less than 0.05 were accepted as significant for all analyses in this study. Results. Serum PTH was raised in 42% patients, but corrected calcium was normal in 83 patients. No fragility fracture was reported, but the overall prevalence of osteoporosis was 27.6% and lower than expected BMD (Z-score ≤ −2.0 SD) was observed in 28.4%. Patients with lower than expected BMD had higher PTH levels. Conclusions. Older age, lower body mass index (BMI), longer time on dialysis, and elevated PTH levels were identified as the main factors associated with lower BMD.

Background The Simplified Acute Physiology Score (SAPS) 3 is a reliable score to predict mortality. This study aims to investigate the predictive values of SAPS 3 and other clinical parameters for death in critically ill coronavirus disease 2019 (COVID-19) patients. Methods This is a prospective study in a tertiary hospital for patients who required intensive care due to COVID-19 infection in northeast Brazil. Two distinct groups were constructed according to the epidemiological data: first wave and second wave. The severity of patients admitted was estimated using the SAPS 3 score. Results A total of 767 patients were included: 290 were enrolled in the first wave and 477 in the second wave. Patients in the first wave had more comorbidities, were put on mechanical ventilation and required dialysis and vasopressors more frequently (p&lt;0.05). During the second wave, non-invasive ventilation was more often required (p&lt;0.05). In both periods, older patients and higher SAPS 3 scores on admission were associated with death (p&lt;0.05). Non-invasive ventilation use showed a negative association with death only in the second wave period. In the first wave, the SAPS 3 score was more useful (area under the curve [AUC] 0.897) in predicting death in critically ill COVID-19 patients than in the second wave (AUC 0.810). Conclusion The SAPS 3 showed very reliable predictive values for death during the waves of the COVID-19 pandemic, mostly together with kidney and pulmonary dysfunction.

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Background The best strategy to establish cardiovascular risk (CVR) in women has yet to be defined, although risk scores are widely used. The inclusion of endothelial biomarkers, such as vascular cell adhesion molecule-1 (VCAM-1), to the risk scores could increase their discriminatory power and improve risk assessment. Objective To evaluate the association between endothelial biomarkers and CVR in women with type 2 DM (T2DM) and without previous cardiovascular disease (CVD). Methods Cross-sectional study, including women with T2DM from Fortaleza, Brazil, from January to October 2017. Women aged 30 to 74 years were included and those with CVD were excluded. Clinical and laboratory data were evaluated (age; time of T2DM diagnosis; hypertension presence and treatment; smoking; body mass index - BMI; systolic blood pressure - SBP and diastolic blood pressure - DBP; glycemic and lipid profiles and serum biomarkers VCAM-1, fibroblast growth factor-23, Syndecan-1 and Angiopoietin-2). The CVR was stratified using the Framingham Risk Score - FRS (version with laboratory tests - laboratory FRS and the one with the BMI - non-laboratory FRS) and the United Kingdom Prospective Diabetes Study (UKPDS) risk engine. Results In total, eighty-eight diabetic women were evaluated, with mean age 56 ± 10 years and T2DM time of 5 (3–9) years, most of them hypertensive (71.6%), overweight or obese (74%), with altered blood glucose levels (blood glucose 8.53 ± 3.65 mmol/L and hbA1c of 65 ± 1 mmol/mol) and lipids (LDL 27.06 ± 8.99 mmol/L), in addition to high risk according to laboratory (72.7%) and non-laboratory (81.8%) FRS and low risk for any UKPDS score outcome. Regarding the biomarkers, only VCAM-1 showed an association with CVR, mainly with a high-risk classification using laboratory FRS (p = 0.024), even in this population without CVD. Conclusion The assessed diabetic women without previous CVD had high CVR in traditional scores (FRS scores) and low CVR in specific score for diabetics (UKPDS score). VCAM-1 may be useful in detect subclinical endothelial dysfunction in women with T2DM and its incorporation into scores may improve the accuracy in risk stratification of women with T2DM.