Einstein-Sao Paulo最新文献

Introduction: The MCM8 gene is involved in the homologous recombination and repair of double-stranded DNA breaks. It maintains the meiotic process continuously. If the MCM8-9 helicase does not function, the accumulation of DNA breaks can result in cell death. Studies have reported MCM8 gene suppression with primary ovarian insufficiency. In the present study, a variant of the MCM8 gene was investigated in women with primary ovarian insufficiency to elucidate the role of MCM8 in this pathology.

Objective: To evaluate the frequency of the NG_042869.1:g.40270G>A variant of the MCM8 gene in the study population.

Methods: The MCM8 gene variant was analyzed via real-time polymerase chain reaction using a hydrolysis probe in DNA samples from women diagnosed with primary ovarian insufficiency, with a normal karyotype and without FMR1 gene permutation, and from a Control Group, who had menopause after 50 years of age. Frequencies were compared using Fisher's exact test.

Results: A total of 100 samples from the Case Group and 100 samples from the Control Group were selected. The variant was detected in heterozygosity in a Case Group sample but was not identified in the Control Group.

Discussion: This variant was first described in a consanguineous Arab family. This variant is classified as pathogenic and has a prevalence of 1% in women with primary ovarian insufficiency. This study is a pioneering investigation of this variant in Brazilian women.

Conclusion: These findings suggest that the rs138761187 variant of the MCM8 gene is rare in Brazilian women.

Objective: Previous studies indicated that face masks reduce the probability of infection by SARS-CoV-2 but did not examine the relationship between SARS-CoV-2 viral load and mask usage. This study analyzed this relationship.

Methods: This cross-sectional study evaluated patients admitted to a public Emergency Care Unit in Belo Horizonte, MG, Brazil, between October 2020 and March 2021. Convenience samples were recruited during the study period. Adult patients with COVID-19 symptoms were invited to participate after being examined by a physician according to the Emergency Care Unit routine. This study included 441 adults with mild symptoms diagnosed with COVID-19 via RT-PCR, who were tested until the 14th day after symptom onset. Participants were interviewed about mask usage, oropharyngeal swabs were collected, and the SARS-CoV-2 viral load was measured using RT-PCR. The difference between the SARS-CoV-2 viral load in the groups of individuals who regularly used and did not use masks was subjected to a hypothesis test.

Results: Of the patients who had swabs collected 1-5 days after symptom onset, 64.9% of those not using masks regularly and 45.5% of those using masks regularly presented a high SARS-CoV-2 viral load. This difference was statistically significant (p=0.0073). Considering only the patients who had swabs collected 4-8 days after symptom onset, 44.1% of those not using masks regularly and 30.8% of those using masks regularly presented a high SARS-CoV-2 viral load; this difference was statistically significant (p=0.0364).

Conclusion: When people who regularly wear a face mask contract COVID-19, they have a significantly lower probability of having a high viral load of SARS-CoV-2 compared to those who do not regularly wear masks.

Objective: To evaluate temporal trends in the use of dexamethasone for the treatment of bronchopulmonary dysplasia in very-low-birth-weight preterm infants.

Methods: A cohort study was conducted using an electronic database and medical records of all very low-birth-weight preterm infants admitted to a university tertiary neonatal unit between 2006 to 2022. The main outcome was the use of systemic dexamethasone to treat bronchopulmonary dysplasia, regardless of the dose or duration of treatment. Annual rates were evaluated using the Cochran-Armitage test.

Results: A total of 1,691 very-low-birthweight preterm infants were admitted during the study period, with a median birth weight of 1100 g (interquartile range [IQR] 850-1300g) and a median gestational age of 29 weeks (IQR= 27-31g). Infants exposed to dexamethasone were smaller (birth weight: 765 versus 1134g, p<0.001) and more immature (gestational age: 28 versus 31 weeks, p<0.001). The overall rate of dexamethasone use was 9.6% (annual variation 6.7% to 13.9%) and remained stable over the study period (p=0.287), including in infants aged <32 weeks (12.0%; p=0.203) and <28 weeks (24.6%; p=0.851). Mechanical ventilation and mortality rates remained stable at 58.8% (p=0.435) and 14.5% (p=0.078), respectively. However, the birth rate at <28 weeks of gestation increased (28.8%, annual variation of 16.0% to 43.8%, p<0.001).

Conclusion: Approximately one in 10 preterm very low-birth-weight infants and one in four of those <28 weeks received dexamethasone, with a trend towards stable use over time, despite a significant trend towards an increase in extreme preterm newborn infants.

Objective: Hand reanimation for finger flexion in patients with total paralysis remains a reconstructive challenge, especially when tendon transfers or neurological reconstruction options are no longer viable. This study aimed to describe a series of patients without hand function by evaluating two hand reanimation techniques.

Methods: This observational retrospective study used a case series of hand reanimation. Two techniques were performed-functional free gracilis muscle transfer with microsurgical reconstruction, and transfer of the recovered biceps to the flexor digitorum profundus and flexor pollicis longus with tendon graft augmentation. The two groups, each undergoing one of the techniques, were evaluated for the final functional results using the British Medical Research Council (BMRC) grading system.

Results: Six consecutive patients with total hand paralysis were included, with a mean final follow-up of 7.5 years. After intervention, two patients, one from each technique group, achieved a BMRC grade 2. In the group where tendon transfer of the biceps to the finger flexors was performed, two patients achieved a BMRC grade 3. Additionally, two patients who underwent functional free muscle transfer were achieved a BMRC grade 4.

Conclusion: The transfer of biceps to the finger flexors using tendon grafts, which involves fewer technical difficulties and reduced demands from the surgical team compared to functional free muscle transfer, is a viable alternative for treating patients requiring hand reanimation. However, functional free muscle transfer is recommended as the first option when technically feasible and adequate donor nerves are available, due to its potential for achieving greater final muscular strength in the finger flexors. Reconstructive microsurgeons can use both techniques as viable surgical options for hand reanimation.

Objective: To determine the prevalence and factors associated with herbal medicinal product use among primary healthcare patients in southeastern Brazil.

Methods: A cross-sectional study combined with documentary research was conducted between August and November 2017, involving interviews with 1,221 adults following dispensing from primary healthcare units. The characterization of herbal medicinal product usage included assessing the prevalence, redundancy, and interaction indicators, as well as identifying sources of recommendation and acquisition. Descriptive statistics were used for variable analysis and logistic regression was used to estimate the factors associated with herbal medicinal product usage, calculating odds ratios at a significance level of 5%.

Results: The prevalence of herbal medicinal product usage was 3.8%, with 60% of them prescribed by physicians. Private pharmacies (53%) were the main sources, and Valeriana officinalis (42%) was the most cited plant species and the sole herbal medicinal product on the municipal list. The indicators of redundancy and interactions between concurrently prescribed pharmaceutical and herbal medicinal products were 42.9% and 28.6%, respectively. Herbal medicinal products usage correlated with the female sex (OR= 2.50; 95%CI= 1.11-5.59), non-white race (OR= 0.52; 95%CI= 0.28-0.94), monthly income above 1 minimum wage (OR= 3.48; 95%CI= 1.51-8.01), and self-reported of anxiety, mood disorder or depression (OR= 2.97; 95%CI= 1.55-5.66).

Conclusion: Despite the low use of herbal medicinal products, users face a high potential for interactions and therapeutic redundancy. Special attention should be paid to patients taking herbal medicinal products and allopathic medicines concurrently. Women with anxiety, mood disorders, or depression were more likely to use herbal medicinal products, whereas non-white people were 48% less likely to use them, suggesting potential socioeconomic disparities in access.

Objective: Tofacitinib, an oral Janus kinase inhibitor, has been tested against a placebo in 289 patients with COVID-19 pneumonia. We analyzed the data from the tofacitinib- and placebo-treated patient cohorts to evaluate the laboratory profiles between baseline and day 7.

Methods: We performed post hoc analyses on the following laboratory tests over time during the first 7 days after randomization: hemoglobin, leukocytes, neutrophils, lymphocytes, platelets, alanine aminotransferase, and aspartate aminotransferase.

Results: Through the first 7 days after randomization, the levels of hemoglobin, white blood cells, neutrophils, and platelet counts were not significantly different between patients treated with tofacitinib or a placebo (all p>0.05). Non-significant differences were observed in aspartate aminotransferase levels over time between treatment groups, whereas alanine aminotransferase levels (U/L) were higher among tofacitinib-treated patients compared to placebo-treated patients (mean ratio, 1.30 [95% confidence interval (95%CI) = 1.14-1.48; p<0.01)].

Conclusion: In patients with COVID-19 pneumonia, the use of tofacitinib compared to placebo did not result in clinically meaningful changes in blood counts or liver enzymes over the first 7 days after randomization.

Registry of clinical trials: NCT04469114.