FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.

BACKGROUND: Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published. METHODS: The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson's test and a contour plot generated to visualize the effect. RESULTS: Correlation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend. CONCLUSIONS: Our results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.

Self-Perception of Sexual Dysfunction of Adult Brazilian Women of Reproductive Age: A Cross-Sectional Study.

Introduction: Sexual dysfunction (SD) comprises disorders in sexual desire, arousal, orgasm, and lubrication. The importance of self-perceived SD relies on its relation to personal values, sex education, and partnership. We aimed to analyze the association between self-perceived SD and the Female Sexual Function Index (FSFI) in adult women of reproductive age and the correlation between age and sexual function. Material and Methods: This analytical cross-sectional study included 285 women aged 18 to 49 years, sexually active for at least four weeks, cisgender and heterosexual, and with Internet access. Women were divided into control (CG, control group; without SD) or study group (SG, study group; with SD) and responded to a self-applicable online survey containing a sociodemographic characterization, an interview about SD knowledge, and the FSFI test. The Chi-square test of independence (χ2) analyzed the association between self-perceived SD and FSFI-assessed SD. Pearson's correlation coefficient investigated the correlation between age and FSFI. Results: Included women had a mean age of 29.57 years ± 7.11 years. Self-perceived SD showed a moderate association (Cramer's V = 0.590) with the FSFI score (χ2 [2] = 91.500; p < 0.001). A weak, negative, and significant correlation was observed between age and the FSFI desire domain (r = -0.120; p = 0.030; r2 = 1.440). Conclusion: Women with self-perceived SD were 68% more likely to present FSFI-assessed SD. Regarding the FSFI desire domain, sexual function decreased with age.

Micro-Computed Tomography Analysis of Peri-Implant Bone Defects Exposed to a Peri-Implantitis Microcosm, with and without Bone Substitute, in a Rabbit Model: A Pilot Study.

Peri-implantitis is an inflammatory condition characterized by inflammation in the peri-implant connective tissue and a progressive loss of supporting bone; it is commonly associated with the presence of biofilms on the surface of the implant, which is an important factor in the development and progression of the disease. The objective of this study was to evaluate, using micro-CT, the bone regeneration of surgically created peri-implant defects exposed to a microcosm of peri-implantitis. Twenty-three adult New Zealand white rabbits were included in the study. Bone defects of 7 mm diameter were created in both tibiae, and a cap-shaped titanium device was placed in the center, counter-implanted with a peri-implantitis microcosm. The bone defects received a bone substitute and/or a resorbable synthetic PLGA membrane, according to random distribution. Euthanasia was performed 15 and 30 days postoperatively. Micro-CT was performed on all samples to quantify bone regeneration parameters. Bone regeneration of critical defects occurred in all experimental groups, with a significantly greater increase in cases that received bone graft treatment (p < 0.0001), in all measured parameters, at 15 and 30 days. No significant differences were observed in the different bone neoformation parameters between the groups that did not receive bone grafts (p > 0.05). In this experimental model, the presence of peri-implantitis microcosms was not a determining factor in the bone volume parameter, both in the groups that received regenerative treatment and in those that did not.

Polysacharide of Agaricus blazei gel mitigates bone necrosis in model of the jaws related to bisphosphonate via Wnt signaling.

To investigate de effect of PAb gel on the bone tissue of rats submitted to Bisphosphonate-related osteonecrosis of the jaws (BRONJ). Initially, 54 animals were submitted to BRONJ model by Zoledronic Acid (ZA) (0.1 mg/kg 3x/wk for 9 wk, ip), followed by the 1st upper left molar extraction at the 8th wk. After tooth removal, the animals were divided into 3 groups, ZA that received placebo gel or PAb gel that received 1% PAb gel, inside the dental alveolus. The control Group (CONTROL) received 0.1 mg/kg of 0.9% saline and then placebo gel. Three weeks after tooth extraction, the animals were euthanized, and maxillae were colleted for macroscopic, radiographic, histological and Raman spectomery assays. Additionally, GSK3b, beta-catenin, and Runx2 mRNA expressions were determined. Blood samples were collected for the analysis of Bone-specific alkaline phosphatase (BALP) levels. PAb gel improved mucosal healing, increased the number of viable osteocytes, while it reduced the number of empty lacunae, as well as the amount of bone sequestration. Furthermore, PAb gel positively influenced the number and functionality of osteoblasts by stimulating Wnt signaling, thereby inducing bone remodeling. Additionally, PAb gel contributed to improved bone quality, as evidenced by an increase in bone mineral content, a decrease in bone solubility, and an enhancement in the quality of collagen, particularly type I collagen. PAb gel mitigated bone necrosis by stimulating of bone remodeling through Wnt signaling and concurrently improved bone quality. PAb gel emerges as a promising pharmacological tool for aiding in BRONJ therapy or potentially preventing the development of BRONJ.

Insights into microorganisms, associated factors, and the oral microbiome in infective endocarditis patients.

Introduction: Infective Endocarditis (IE) is a rare, life-threatening infection of the endocardium with multisystem effects. Culprit microorganisms derived from different niches circulate through the bloodstream and attach to the endocardium, particularly the heart valves. This study aimed to investigate culprit microorganisms among a cross-sectional cohort of IE patients, their associated factors, and to explore the potential relationship to the oral microbiome. Methods: In this observational study, we undertook a cross-sectional analysis of 392 medical records from patients diagnosed with IE. The primary outcome of this study was to analyse the association between the IE culprit microorganisms and the underlying anatomical types of IE (native valve (NVE), prosthetic valve (PVE), or cardiac device-related (CDE)). Secondary outcomes encompassed a comparative analysis of additional factors, including: the treatment approaches for IE, and the categorisation of blood cultures, extending to both genus and species levels. Additionally, we cross-referenced and compared the species-level identification of IE bacteraemia outcome measures with data from the expanded Human Oral Microbiome Database (eHOMD). Results: A culprit microorganism was identified in 299 (76.28%) case participants. Staphylococcal infections were the most common (p < 0.001), responsible for 130 (33.16%) hospitalisations. There were 277 (70.66%) cases of NVE, 104 (26.53%) cases of PVE, and 11 (2.81%) cases of CDE. The majority of PVE occurred on prosthetic aortic valves (78/104, 75%), of which 72 (93.5%) were surgical aortic valve replacements (SAVR), 6 (7.8%) were transcatheter aortic valve implants, and one transcatheter pulmonary valve implant. Overall, underlying anatomy (p = 0.042) as well as the treatment approaches for IE (p < 0.001) were significantly associated with IE culprit microorganisms. Cross-reference between IE bacteraemia outcomes with the eHOMD was observed in 267/392 (68.11%) cases. Conclusions: This study demonstrated that IE patients with a history of stroke, smoking, intravenous drug use, or dialysis were more likely to be infected with Staphylococcus aureus. CDE case participants and patients who had previous SAVR were most associated with Staphylococcus epidermidis. IE patients aged 78+ were more likely to develop enterococci IE than other age groups. Oral microorganisms indicated by the eHOMD are significantly observed in the IE population. Further research, through enhanced dental and medical collaboration, is required to correlate the presence of oral microbiota as causative factor for IE.

A conduta do odontopediatra em UTI perante casos de abuso sexual infantil / The course of action of the ICU pediatric dentist towards children sexual abuse incidents

O referido trabalho visa apresentar a importância do cirurgião dentista, especialista em odontopediatria, em ambiente hospitalar, esclarecendo sinais e manifestações orais que devam despertar a atenção de um possível abuso sexual infantil, a fim de que seja feita uma notificação plausível e baseada em evidências. Esta revisão de literatura tem bibliografia baseada em artigos da Constituição Federal e artigos científicos buscados na plataforma Scientific Electronic Library Online (SciELO). A busca foi feita por meio de palavras-chave em um intervalo de 2002 a 2022, não se resumindo a um período máximo de 10 anos devido à dificuldade em encontrar referências atuais. Cerca de 29 artigos foram encontrados e após a leitura do título e resumo de cada um, 14 foram excluídos em razão de seu conteúdo não estar relacionado ao tema proposto. 15 foram lidos na íntegra. 3 manuais disponibilizados para profissionais da saúde e artigos do Estatuto da Criança e do Adolescente, bem como 1 lei municipal do Rio de Janeiro foram utilizados. Como resultado geral, foram encontradas manifestações orais e Infecções Sexuais Transmissíveis (ISTs) mais recorrentes, sinais apresentados por pacientes vítimas de abuso sexual, quais condutas obrigatórias a seguir e a importância do odontopediatra, em ambiente hospitalar, mais precisamente na Unidade de Terapia Intensiva.

This work aims to present the importance and role of the dental surgeon, specialist in pediatric dentistry, in a hospital environment, clarifying which signs, and oral manifestations should draw attention to a possible child sexual abuse, in order to make a plausible report and evidence-based. A literature review was carried out with bibliography based on articles of the Federal Constitution and scientific articles found in platform Scientific Electronic Library Online (SciELO). The search was carried out using keywords in a range from 2002 to 2022, not limited to a maximum period of 10 years due to the difficulty in finding current references. About 29 articles were found and after reading the title and abstract of each one, 14 were excluded because their content was not related to the proposed theme. 15 were read in full. 3 manuals made available to health professionals and articles from the Child and Adolescent Statute, as well as 1 municipal law of Rio de Janeiro were used. As a general result, more recurrent oral manifestations and Sexually Transmitted Infections (STIs) were found, signs presented by patients victims of sexual abuse, what mandatory conducts to follow and the importance of the pediatric dentist in a hospital environment, more precisely in the Intensive Care Unit.

The efficacy of bone reconstructive therapies in the management of peri-implantitis. A systematic review and meta-analysis.

AIM: To evaluate the efficacy of bone reconstructive procedures for the reduction of probing pocket depth (PPD), bleeding on probing (BOP), and suppuration in peri-implantitis-related bone defects at ≥12-month follow-up. MATERIALS AND METHODS: Three databases were searched for randomized controlled trials (RCTs) and controlled clinical trials (CCTs) that compared bone reconstructive therapies to access flap surgery (AFS) (Focused Question-FQ 1), and RCTs, CCTs, and prospective case series that assessed the efficacy of reconstructive therapies (FQ 2). Meta-analysis was performed for FQ1 when more than three studies were identified, while for FQ2 a network was drawn based on RCTs with common treatment arms. RESULTS: Seven RCTs were identified for FQ1 while five RCTs and six prospective case series for FQ2. There was no significant difference in PPD change between AFS and reconstructive surgery (-0.387; p = .325) at 12 months. Furthermore, no clear differences in terms of PPD and BOP changes resulted from the different reconstructive therapies included in the network. Only a small percentage of treated cases with any modality achieved peri-implantitis resolution, as defined by different composite outcomes. CONCLUSIONS: Reconstructive surgery does not offer significant improvements in peri-implant clinical parameters as compared to AFS at 12 months. It was not possible to establish a hierarchy of efficacy among the different biomaterials employed for reconstructive surgery.

Dogs Barking and Babies Crying: The Effect of Environmental Noise on Physiological State and Cognitive Performance.

Objective: The exposure to some environmental sounds has detrimental effects on health and might affect the performance in cognitive tasks. In this study, we analyze the effect of the neighborhood noises of a baby crying and dogs barking on the autonomic response and cognitive function. Materials and methods: Twenty participants were exposed, in separate sessions, to white noise, a baby crying, a small dog barking, and a large dog barking. During each session, heart rate, skin conductance, reaction times, spatial memory, and mathematical processing measures were taken throughout time. Results: The sounds of a baby crying and dogs barking led to significantly higher heart rates and skin conductance levels as opposed to exposure to white noise. Results were not as consistent with exposure to barking as they were to the baby. Exposure to the baby crying and dogs barking led to faster reaction times, possibly due to a facilitation by the autonomic system activation. No significant effects on spatial memory were found. Conversely, participants performed worse and slower in a mathematical task when exposed to the dog and baby sounds, than when exposed to control noise. Conclusion: Exposure to the sound of crying babies and dogs barking leads to increased sympathetic response and decreased cognitive ability, as compared to exposure to control sounds. Special attention should be paid to the mitigation of exposure to these types of noises.

Biomarker Expression of Peri-Implantitis Lesions before and after Treatment: A Systematic Review.

The need to predict, diagnose and treat peri-implant diseases has never been greater. We present a systematic review of the literature on the changes in the expression of biomarkers in peri-implant crevicular fluid (PICF) before and after treatment of peri-implantitis. Bacterial composition, clinical and radiographic parameters, and systemic biomarkers before and after treatment are reported as secondary outcomes. A total of 17 studies were included. Treatment groups were non-surgical treatment or surgical treatment, either alone or with adjunctive therapy. Our findings show that non-surgical treatment alone does not influence biomarker levels or clinical outcomes. Both adjunctive photodynamic therapy and local minocycline application resulted in a reduction of interleukin (IL)-1ß and IL-10 twelve months after treatment. Non-surgical treatments with adjunctive use of lasers or antimicrobials were more effective at improving the clinical outcomes in the short-term only. Access flap debridement led to matrix metalloproteinase (MMP)-8 and tumour necrosis factor-α reduction twelve months post-surgery. Surgical debridement with adjunctive antimicrobials achieved a decrease in MMP-8 at three months. Adjunctive use of Emdogain™ (EMD) was associated with a reduction in 40 PICF proteins compared to access flap surgery alone. Surgical interventions were more effective at reducing probing pocket depth and bleeding on probing both in the short- and long-term. Surgical treatment in combination with EMD was found to be more effective in resolving inflammation up to twelve months.

Oral Microcosm Biofilms Grown under Conditions Progressing from Peri-Implant Health, Peri-Implant Mucositis, and Peri-Implantitis.

Peri-implantitis is a disease influenced by dysbiotic microbial communities that play a role in the short- and long-term outcomes of its clinical treatment. The ecological triggers that establish the progression from peri-implant mucositis to peri-implantitis remain unknown. This investigation describes the development of a novel in vitro microcosm biofilm model. Biofilms were grown over 30 days over machined titanium discs in a constant depth film fermentor (CDFF), which was inoculated (I) with pooled human saliva. Following longitudinal biofilm sampling across peri-implant health (PH), peri-implant mucositis (PM), and peri-implantitis (PI) conditions, the characterisation of the biofilms was performed. The biofilm analyses included imaging by confocal laser scanning microscopy (CLSM) and scanning electron microscopy (SEM), selective and non-selective culture media of viable biofilms, and 16S rRNA gene amplification and sequencing. Bacterial qualitative shifts were observed by CLSM and SEM across conditions, which were defined by characteristic phenotypes. A total of 9 phyla, 83 genera, and 156 species were identified throughout the experiment. The phyla Proteobacteria, Bacteroidetes, Firmicutes, Fusobacteria, and Actinobacteria showed the highest prevalence in PI conditions. This novel in vitro microcosm model provides a high-throughput alternative for growing microcosm biofilms resembling an in vitro progression from PH-PM-PI conditions.

Therapeutic exercise versus other modalities for prevention and treatment of low back, pelvic girdle, and lumbopelvic pain during pregnancy: A review protocol.

BACKGROUND: The female body changes during pregnancy to create a favorable environment for fetal development which may result in musculoskeletal disorder and painful symptoms in the lumbopelvic region. OBJECTIVE: To analyze the evidence of therapeutic exercise versus other modalities to prevent and treat LBP, LGP, and LPP during pregnancy. METHODS: Full text randomized controlled trials (RCT) evaluating interventions to prevent or treat LBP, PGP, and LPP during pregnancy (any gestational age) that comparing therapeutic exercises with usual care or other modalities to reduce the incidence or severity of LBP or PGP or both during pregnancy will be included. 5 electronic databases will be searched to identify studies. Assess risk of bias in each study using the Cochrane Handbook for Systematic Reviews of Interventions and quality of overall body of evidence for all primary outcomes will be assessed for all comparisons using the approach outlined in GRADE Handbook.

Molecular Biomarkers in Peri-Implant Health and Disease: A Cross-Sectional Pilot Study.

BACKGROUND: The aim of this feasibility study was to investigate the concentration level of CCL-20/MIP-3α, BAFF/BLyS, IL-23, RANKL, and Osteoprotegerin in the Peri-Implant Crevicular Fluid (PICF), from patients diagnosed with peri-implant mucositis and peri-implantitis, and to compare them with PICF from patients with healthy implants. METHODS: Participants with at least one dental implant with healthy peri-implant tissues, peri-implant mucositis, or peri-implantitis were included. PICF was collected using paper strips from healthy and diseased peri-implant sites (n = 19). Biomarker levels were analyzed using a custom Multiplex ELISA Assay Kit. RESULTS: In comparison to peri-implant health, the peri-implant mucositis group showed an increased concentration of CCL-20 MIP-3α, BAFF/BLyS, IL-23, RANKL, and Osteoprotegerin. The peri-implantitis group had the lowest median concentration of Osteoprotegerin (1963 ng/mL); this group had a similar concentration of RANKL (640.84 ng/mL) when compared to the peri-implant health group. BAFF/BLyS (17.06 ng/mL) showed the highest concentration in the peri-implantitis group. CONCLUSIONS: This feasibility study suggests that IL-23 and RANKL may help to elucidate the pathogenesis during the conversion from peri-implant health to peri-implantitis. Further research is required in BAFF/BLyS for the early diagnosis of peri-implantitis.

The Effect of Microcosm Biofilm Decontamination on Surface Topography, Chemistry, and Biocompatibility Dynamics of Implant Titanium Surfaces.

Since the inception of dental implants, a steadily increasing prevalence of peri-implantitis has been documented. Irrespective of the treatment protocol applied for the management of peri-implantitis, this biofilm-associated pathology, continues to be a clinical challenge yielding unpredictable and variable levels of resolution, and in some cases resulting in implant loss. This paper investigated the effect of microcosm biofilm in vitro decontamination on surface topography, wettability, chemistry, and biocompatibility, following decontamination protocols applied to previously infected implant titanium (Ti) surfaces, both micro-rough -Sandblasted, Large-grit, Acid-etched (SLA)-and smooth surfaces -Machined (M). Microcosm biofilms were grown on SLA and M Ti discs. These were treated with TiBrushes (TiB), combination of TiB and photodynamic therapy (PDT), combination of TiB and 0.2%CHX/1%NaClO, plus or minus Ultraviolet-C (UV-C) radiation. Surface topography was evaluated by Scanning Electron Microscopy (SEM) and Laser Surface Profilometry. Surface function was analysed through wettability analysis. Surface chemistry evaluation of the discs was performed under SEM/Energy-dispersive X-ray spectroscopy (EDX) and X-ray photoelectron spectroscopy (XPS). Biocompatibility was tested with the cytocompatibility assay using human osteoblast-like osteosarcoma cell line (MG-63) cells. Elemental analysis of the discs disclosed chemical surface alterations resulting from the different treatment modalities. Titanium, carbon, oxygen, sodium, aluminium, silver, were identified by EDX as the main components of all the discs. Based on the data drawn from this study, we have shown that following the decontamination of Ti surfaces the biomaterial surface chemistry and topography was altered. The type of treatment and Ti surface had a significant effect on cytocompatibility (p = 0.0001). Although, no treatment modality hindered the titanium surface biocompatibility, parameters such as the use of chemical agents and micro-rough surfaces had a higher cytotoxic effect in MG-63 cells. The use of smooth surfaces, and photofunctionalisation of the TiO2 layer had a beneficial effect on cytocompatibility following decontamination.

Histological and Immunohistochemical Analysis of Peri-Implant Soft and Hard Tissues in Patients with Peri-Implantitis.

Currently, researchers are focused on the study of cytokines as predictive biomarkers of peri-implantitis (PI) in order to obtain an early diagnosis and prognosis, and for treatment of the disease. The aim of the study was to characterize the peri-implant soft and hard tissues in patients with a peri-implantitis diagnosis. A descriptive observational study was conducted. Fifteen soft tissue (ST) samples and six peri-implant bone tissue (BT) samples were obtained from 13 patients who were diagnosed with peri-implantitis. All the samples were processed and embedded in paraffin for histological and immunohistochemical analyses. A descriptive and quantitative analysis of mast cells and osteocytes, A proliferation-inducing ligand (APRIL), B-cell activating factor (BAFF), osteonectin (ON), and ∝-smooth muscle actin (∝-SMA) was performed. We observed the presence of mast cells in peri-implant soft tissue in all samples (mean 9.21 number of mast cells) and osteocytes in peri-implant hard tissue in all samples (mean 37.17 number of osteocytes). The expression of APRIL-ST was 32.17% ± 6.39%, and that of APRIL-BT was 7.09% ± 5.94%. The BAFF-ST expression was 17.26 ± 12.90%, and the BAFF-BT was 12.16% ± 6.30%. The mean percentage of ON was 7.93% ± 3.79%, and ∝-SMA was 1.78% ± 3.79%. It was concluded that the expression of APRIL and BAFF suggests their involvement in the bone resorption observed in peri-implantitis. The lower expression of osteonectin in the peri-implant bone tissue can also be associated with a deficiency in the regulation of bone remodeling and the consequent peri-implant bone loss.

Factors associated with mortality, length of hospital stay and diagnosis of COVID-19: Data from a field hospital.

BACKGROUND: During the pandemic of COVID-19, phylogenetic changes have been observed in the characteristics of the virus, in the diagnosis and treatment of the disease. The clinical course and the severe form of the disease depends on several factors. This study characterized the beginning setting for patient care of COVID-19 in a referral center in one of the main capital cities of Brazil. In addition, were evaluated the factors associated with mortality, length of stay, and diagnostic outcome. METHODS: A cross-sectional study was conducted during May 2020 (n = 1100). The association of the variables with outcome was evaluated by a multivariable logistic regression model, using odds ratios (OR) and 95 % confidence intervals (CI). RESULTS: Overall, 76 % of patients were COVID-19 positive, and 70 % were diagnosed by RT-qPCR. The majority were male (56 %), and over 52 years old (74 %), 68 % had hypertension, 44 % had diabetes mellitus, and 32 % were obese. The mean length of stay was 10 ± 8 days, which was higher in the 34 % who died (≥14; OR=2; 95 %CI=1.4-4) and who had hypertension (OR=2; 95 %CI=1.3-3) (P < 0.001). The mean length of stay was also higher (P = 0.008) for those patients with pulmonary impairment ≥ 50 % (10.72 ± 8.24), than those with< 50 % (8.98 ± 6.81). Age (>62 and 65 years) was associated with longer hospitalization (OR=2; 95 %CI=1.4-3) and death (OR=6; 95 %CI=3-11). The time of sample collection for RT-qPCR was different between positive and negative tests (P = 0.001), with the time of 4-10 days showing a greater chance for virus detection (OR=2.9; 95 %CI=1.6-5). CONCLUSION: Death was associated with age and pulmonary impairment. The length of hospitalization was associated with age, hypertension, pulmonary impairment and death. The time of sample collection to perform RT-qPCR and the rapid test was associated with a positive result for COVID-19. These results highlight the ongoing challenge of diagnosing, treating, and mitigating the effects caused by the COVID-19 pandemic.

Public involvement in research: exploring periodontal and peri-implant health and disease in partnership with Perio@RLH patient forum members.

Patients, carers and the public form an important partnership with the research community. By working alongside researchers, patients make a valuable contribution to all parts of the research cycle. This paper provides an opinion regarding public involvement in periodontal and peri-implant research and summarises the key points derived from a focus group that explored the topic of research in the conditions of periodontal and peri-implant health and disease. The partnership comprised forum members from the Royal London Hospital periodontics patient group (Perio@RLH) and a multidisciplinary team of researchers and clinicians.

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.

X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status for an X-linked disease or explain the presence of a severe phenotype. In these cases, it is important to determine the XCI pattern, conventionally using the gold standard Human Androgen-Receptor Assay (HUMARA), based on the analysis of the methylation status at a polymorphic CAG region in the first exon of the human androgen receptor gene (AR). The aim of this study was to evaluate whether the methylation status of the fragile mental retardation protein translational regulator gene (FMR1) can provide an XCI pattern similar to that obtained by HUMARA. A set of 48 female carriers of FMR1 gene normal-sized alleles was examined using two assays: HUMARA and a FMR1 methylation PCR (mPCR). Ranges were defined to establish the XCI pattern using the methylation pattern of the FMR1 gene by mPCR. Overall, a 77% concordance of the XCI patterns was obtained between the two assays, which led us to propose a set of key points and a stepwise analysis towards obtaining an accurate result for the XCI pattern and to minimize the underlying pitfalls.

A percepção da mulher com relação à consulta do climatério / La percepción de las mujeres respecto a la cita del climaterio / The woman´s perception regarding the climacteric consultation

Objetivo: Descrever a percepção da consulta de enfermagem no Climatério sob a ótica das mulheres atendidas na Atenção Básica. Método: Estudo descritivo qualitativo com abordagem intencional realizado numa Unidade de Saúde Escola no município de Caruaru-PE, durante o período de abril e maio de 2021. Foram entrevistadas 07 mulheres usuárias do serviço na fase do climatério. Resultados: a partir das entrevistas foram obtidas 3 categorias, sendo duas sobre a vivência do climatério pelas mulheres e uma sobre a percepção da mulher com relação à consulta de enfermagem. Conclusão: Conclui-se que as mulheres se sentem bem ao passarem pela consulta de climatério feita pela enfermagem, pois traz sentimento de alívio e entendimento. A consulta de enfermagem é um elemento chave na assistência à saúde, atingindo a proposta da PNAISM e oferecendo uma melhor qualidade de vida para as mulheres no climatério(AU)

Objective: To describe the perception of the nursing consultation in climateric from the perspective of women assisted in Primary Care. methods: Qualitative descriptive study with intentional approach conducted in a School Health Unit in the municipality of Caruaru-PE, during the period April and May 2021. We interviewed 07 women users of the service in the climacteric phase. Results: from the interviews, 3 categories were obtained, two of which were about the experience of the climacteric period by women and one about the perception of women regarding the nursing consultation. Conclusion: It is concluded that women feel well when they go through the climacteric consultation made by nursing, because it brings a feeling of relief and understanding. The nursing consultation is a key element in health care, achieving the proposal of PNAISM and offering a better quality of life for women in climateric.(AU)

Objetivo: Describir la percepción de la consulta de enfermería en el climaterio desde la perspectiva de las mujeres atendidas en Atención Primaria. Método: Estudio descriptivo cualitativo con abordaje intencional realizado en una Unidad de Salud Escolar de la ciudad de Caruaru-PE, de abril a mayo de 2021. Se entrevistaron 07 mujeres usuarias del servicio en la fase climatérica. Resultados: Por las entrevistas se obtuvieron 3 categorías, dos sobre la experiencia del climaterio por parte de las mujeres y una sobre la percepción de la mujer sobre la consulta de enfermería. Conclusión: Se concluye que las mujeres se sienten bien al pasar por la consulta climatérica realizada por la enfermería, ya que les brinda una sensación de alivio y comprensión. La consulta de enfermería es un elemento clave en el cuidado de la salud, llegando a la propuesta del PNAISM y ofreciendo una mejor calidad de vida a las mujeres en el climaterio(AU)