Revista da Associacao Medica Brasileira (1992)
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Rev Assoc Med Bras (1992) · Sep 2022
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.
Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). ⋯ Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling. .
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Rev Assoc Med Bras (1992) · Sep 2022
Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome).
Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes. This study aimed to investigate whether dynamic thiol-disulfide homeostasis is a new marker of oxidative stress in patients suffering from lipoid proteinosis. ⋯ Impaired dynamic thiol-disulfide homeostasis was observed in lipoid proteinosis patients, suggesting that thiol-disulfide homeostasis may have a role in the pathogenesis of this disease.
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Rev Assoc Med Bras (1992) · Sep 2022
A simple method for clinical implications of pain; comprehensive geriatric assessment.
The effect of chronic pain on the elderly population is enormous in terms of both human suffering and cost. This study aimed to investigate the factors associated with chronic low back pain in older adults by performing a comprehensive geriatric assessment. ⋯ Chronic pain is common and independently associated with poor sleep quality, an increased number of diseases, and female gender. The results of our study may guide pain management in older individuals.
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Rev Assoc Med Bras (1992) · Sep 2022
Observational StudyCharacteristics and outcomes of COVID-19 patients assisted by intensivists and nonintensivists.
The aim of this study was to assess the outcomes of critically ill patients with COVID-19 in an intensive care unit seen by a care team formed by intensive and nonintensive physicians and treatment guided by processes and protocols linked to the "choosing wisely" concept, comparing them with similar data recently published. ⋯ Patients admitted for acute respiratory syndrome due to SARS-CoV-2 are severe and have a high mortality rate, mainly if submitted to invasive mechanical ventilation. The emergence of acute renal failure marks an especially severe subgroup with increased mortality. Processes and protocols linked to the "choosing-wisely" concept seemed to significantly benefit our intensive care unit since it had a large contingent of nonspecialist physicians.