Revista da Associacao Medica Brasileira最新文献

Background: Patients with coronavirus disease 2019 on automatic mechanical ventilation have greater heart rate modulation with greater parasympathetic modulation.

Objective: To analyze the autonomic modulation of heart rate in critically ill patients with coronavirus disease 2019 on invasive mechanical ventilation.

Methods: A cross-section study was carried out with 36 individuals divided into two groups. The control group included patients of both genders, in orotracheal intubation with invasive mechanical ventilation under controlled assisted mode, hospitalized in the intensive care unit for another 24 h. In the non-COVID group, patients diagnosed with coronavirus disease 2019 in the same condition mentioned in the control group.

Results: There was a significant increase in heart rate variability (standard deviation of all normal RR intervals recorded at an interval of time; p=0.001; triangular interpolation histogram of RR intervals; p=0.048; and SD2; p=0.014) in the coronavirus disease group compared to the non-COVID group. Successively, the parameters that demonstrate parasympathetic modulation are shown to be higher in the group of patients with coronavirus disease 2019 (root mean square of the square of differences between adjacent normal RR intervals in an interval of time; p<0.001; pNN50; p<0.001; SD1; p=0.002; and high frequency; p=0.022).

Conclusions: There was a greater autonomic modulation of heart rate with a greater parasympathetic modulation in patients with coronavirus disease 2019 on mechanical ventilation.

Objective: Colorectal cancer is the third most diagnosed malignant neoplasm in the world and the fourth leading cause of cancer mortality. The loss of muscle mass in oncological patients is the main aspect of cancer-related malnutrition. Associations between sarcopenia and poor outcomes, such as high postoperative mortality, chemotherapy toxicity, and reduced survival, have been recently described. The aim of this study was to prospectively assess the prevalence of preoperative sarcopenia in patients with colorectal cancer using validated methods to evaluate muscle strength, muscle mass, and physical performance.

Methodology: This study included patients with colorectal cancer undergoing oncological staging at a Cancer Center in Brazil from May 2019 to March 2020 who had images from abdominal computed tomography available for analysis of body composition. The muscle strength test, physical performance, referred fatigue, and clinical and nutritional data were evaluated.

Results: A total of 31 patients were included, and most were diagnosed with colon cancer (77.4%) and clinical stage II in 41.9% of cases. The prevalence of probable sarcopenia was 22.6%; of these patients, sarcopenia was confirmed in 19.4%, and ultimately, 9.7% of the sample was classified as severe sarcopenia. We did not find a significant association between the presence of sarcopenia in our sample and age, sex, tumor staging, nutritional characteristics, referred patient fatigue, or postoperative complications.

Conclusion: Considering the criteria established by the EWGSOP, the prevalence of preoperative sarcopenia in colorectal cancer patients was 19.4%.

Objective: This study aimed to investigate female sexual function in patients with type 1 diabetes by comparing female sexual function index scores between women with and without type 1 diabetes.

Methods: A total of 62 women with type 1 diabetes and 69 age-matched women without diabetes but with similar backgrounds were enrolled in the patient and control groups, respectively. All participants were sexually active and had no systemic diseases other than diabetes in the patient group.

Results: The frequency of female sexual dysfunction was significantly higher, and the mean female sexual function index score was significantly lower in women with diabetes compared to the control group (p=0.01). There was a significant relationship between sexual dysfunction and duration of diabetes, glycosylated hemoglobin test, and body mass index (p<0.05).

Conclusion: This study demonstrates that female sexual dysfunction is more common among women with type 1 diabetes than among women without type 1 diabetes. Patients with type 1 diabetes should be evaluated in terms of sexual health. Health professionals should give more attention to and provide guidance regarding sexual function in women with type 1 diabetes.

Objective: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases.

Methods: This is a retrospective study. Three different molecular methods (multiplex ligation probe amplification, next-generation sequencing, and whole-exome sequencing) were used to detect the mutations related to Charcot-Marie-Tooth disease.

Results: In total, 64 patients (33 males and 31 females) with suspected Charcot-Marie-Tooth disease were analyzed for molecular etiology. In all, 25 (39%) patients were diagnosed by multiplex ligation probe amplification. With an extra 11 patients with normal PMP22 multiplex ligation probe amplification results that were consulted to our laboratory for further genetic analysis, a total of 50 patients underwent next-generation sequencing for targeted gene panels associated with Charcot-Marie-Tooth disease. Notably, 18 (36%) patients had pathogenic/likely pathogenic variants. Whole-exome sequencing was performed on five patients with normal next-generation sequencing results; the diagnostic yield by whole-exome sequencing was 80% and it was higher in the childhood group.

Conclusion: The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.

Objective: This study aimed to evaluate the influence of chronic pain on functionality and its consequences on work and patient income.

Methods: A total of 103 patients from the Multidisciplinary Pain Center of the Clinics Hospital of Universidade Federal de Minas Gerais were interviewed between January 2020 and June 2021, applying questionnaires on mobile devices. Socioeconomic data, multidimensional characterization of pain, and instruments for assessing pain functionality and intensity were analyzed. Pain intensity was categorized as mild, moderate, or intense for comparative analysis. Ordinal logistic regression was used to identify risk factors and variables that jointly influence the outcome of pain intensity.

Results: The patients had a median age of 55 years, were predominantly female, married or in a stable relationship, white race, and completed high school. The median family income was R$2,200. Most patients were retired due to disability and pain-related causes. Functionality analysis showed severe disability directly associated with pain intensity. The financial impacts observed were correlated with the pain intensity of the patients. Age was a risk factor for pain intensity, while sex, family income, and duration of pain served as protective factors.

Conclusion: Chronic pain was associated with severe disability, decreased productivity, and exit from the labor market, with a negative impact on financial condition. Age, sex, family income, and duration of pain were directly associated with pain intensity.

Objective: Midwifery services are a cornerstone of maternal care but the trait creativity of midwifery students is unclear. The aim of this study was to assess trait creativity among midwives in Taizhou, China.

Methods: A cross-sectional online survey among midwives was conducted from July 20 to August 10, 2022. Trait creativity was assessed using the Williams Creativity Assessment Packet.

Results: A total of 300 survey respondents were studied. The mean scores for the imagination dimension (p=0.032) and the risk-taking dimension (p=0.049) differed across major groups. We further compared the scores of trait creativity dimensions after excluding male participants. Midwifery students only scored lower on the specific imagination dimension (p=0.024).

Conclusion: The imagination level of midwifery students certainly deserves further attention. Education workers should pay more attention to the imagination of midwifery students.

Objective: Fetal thymus involvement in prematurity has been studied, and this study aimed to evaluate its relationship with short cervix and amniotic fluid sludge in the second trimester of pregnancy.

Methods: In this prospective cross-sectional study, 79 pregnant women (19+0 to 24+6 weeks) were included, and cervical length and the presence or absence of amniotic fluid sludge were evaluated. In the three-vessel view of the fetal thorax, the thymus was identified, and its perimeter and transverse diameter were measured and transformed to a zeta score based on gestational age.

Results: Data from 22 women with short cervix (<25 mm) and 57 patients with normal cervix (≥25 mm) were analyzed. The transverse diameter of the fetal thymus was significantly greater in the short cervix group compared to that of the normal cervix group (z-score 2.708 vs. -0.043, p=0.003). There were no significant differences in the perimeter (z-score -0.039 vs. -0.071, p=0.890) or the transverse diameter (z-score 1.297 vs. -0.004, p=0.091) of the fetal thymus associated with the presence (n=21) or absence of sludge (n=58).

Conclusion: A short cervix is associated with an increased transverse diameter of the fetal thymus during the second trimester of gestation.

Objective: The purpose of this study was to investigate the details of minor complications of carotid artery stenting in a developing country.

Methods: This was a retrospective, single-center study conducted on the target group consisting of 65 symptomatic patients who underwent carotid artery stenting. We assessed technical success rate, periprocedural complication within 30 days (hypotension, bradycardia, acute kidney injury, vasospasm, a transient ischemic attack, stroke, myocardial infarction, and death), and the differences between groups with and without complications.

Results: Minor periprocedural complications occurred in 15 patients. In all, 8 (12.3%) had transient hypotension, 6 (9.2%) had bradycardia, 7 (10.7%) had acute kidney injury, 2 (3.1%) had vasospasm, and 1 (1.5%) had transient ischemic attack. A greater rate of minor complications was observed in women (p=0.051).

Conclusion: The results of the carotid artery stenting procedures performed in a developing country were acceptable.

Objective: The aim of this study was to evaluate the effects of obstetric simulation training on undergraduate medical students to improve their self-confidence.

Methods: Fifth-year undergraduate medical students were invited to a 2-week course of simulation in obstetrics during their clerkship. The sessions included were as follows: (1) care for the second and third periods of childbirth, (2) partograph analysis and pelvimetry, (3) premature rupture of membranes at term, and (4) diagnosis and management of third-trimester bleeding. Before the first session and at the end of the training period, a questionnaire about self-confidence in obstetric procedures and skills was applied.

Results: A total of 115 medical students were included, of whom 60 (52.2%) were male and 55 (47.8%) were female. Comparing initial and final scores, the median results of the subscales "comprehension and preparation" (18 vs. 22, p<0.001), "knowledge of procedures" (14 vs. 20, p<0.001), and "expectation" (22 vs. 23, p<0.01) were significantly higher at the end of the training period in all items of the questionnaire than in the beginning. Differences were found based on the students' gender, i.e., female students had a significantly higher sum of scores than the male students in the initial subscale for "expectation" (median, 24 vs. 22, p<0.001) and "interest" (median, 23 vs. 21, p=0.032), and a higher sum of scores in the subscale for "expectation" (median, 23 vs. 21, p=0.010) in the final questionnaire.

Conclusion: Obstetric simulation enhances the improvement of students' self-confidence in understanding both the physiology of childbirth and the obstetric care procedures. Further studies are needed to understand the influence of gender on obstetric care.

Objective: Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. The aim of this retrospective study was to investigate novel gene variants and evaluate the utility of whole-exome sequencing in patients with retinitis pigmentosa.

Methods: The medical records of 20 patients with retinitis pigmentosa at Eskişehir City Hospital between September 2019 and February 2022 were analyzed retrospectively. Peripheral venous blood was obtained, followed by the extraction of genomic DNAs. The medical and ophthalmic histories were collected, and ophthalmological examinations were performed. Whole-exome sequencing was performed to determine the genetic etiology of the patients.

Results: The proportion of genetically solved cases was 75% (15/20) in the patients with retinitis pigmentosa. Molecular genetic testing identified 13 biallelic and 4 monoallelic mutations in known retinitis pigmentosa genes, including 11 novel variants. According to in silico prediction tools, nine variants were predicted as pathogenic or possibly pathogenic. We identified six previously reported mutations to be associated with retinitis pigmentosa. The age of onset of the patients ranged from 3 to 19, with a mean age of onset of 11.6. All patients had a loss of central vision.

Conclusion: As the first study of the application of whole-exome sequencing among patients with retinitis pigmentosa in a Turkish cohort, our results may contribute to the characterization of the spectrum of variants related to retinitis pigmentosa in the Turkish population. Future population-based studies will enable us to reveal the detailed genetic epidemiology of retinitis pigmentosa.