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PURPOSE: This study aimed to map the use of hyaluronic acid (HA) in preventing and controlling radiotoxicity in women with gynecological cancer undergoing radiotherapy. METHODS: We conducted a scoping review of eight electronic databases: CINAHL, Cochrane CENTRAL, LILACS, PubMed, Scopus, Embase, LIVIVO, and the Web of Science Core Collection. In addition, a grey literature search was performed using Google Scholar and ProQuest Dissertations & Theses Global. A manual search was also identified additional references. The search was conducted on May 18, 2023. We included primary studies, reviews, and guidelines that discussed the use of HA to prevent and manage the toxicities resulting from gynecological radiotherapy. RESULTS: Eighteen studies were included in this scoping review, published between 2009 and 2022. There was heterogeneity in the use of HA, particularly in the method of application (moisturizing gel, vaginal ovules, spacer gel, and bladder instillations). Furthermore, the radiotoxicities varied among studies, encompassing, among others, vaginal atrophy, dryness, dyspareunia, telangiectasis, adhesions, vaginal stenosis, bleeding, hematuria, and bladder issues. Most studies addressed the potential benefits of HA in managing the signs and symptoms resulting from radiotherapy. CONCLUSION: HA has been utilized in clinical practice, in various formulations, for managing signs and symptoms in patients with gynecological cancer undergoing radiotherapy. However, further studies are necessary to thoroughly investigate the most effective method of HA application and its effectiveness in managing radiotoxicity.

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OBJECTIVE: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. METHODS: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. RESULTS: A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. CONCLUSIONS: Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.

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Las pápulas perladas del pene son angiofibromas acrales, lesiones asintomáticas benignas, no infecciosas, ubicadas alrededor del glande masculino. Debido su aspecto suelen causar angustia, disminución de autoestima y dificultades en la intimidad sexual. Todo esto lleva a un deterioro de la calidad de vida sexual. Métodos. Se incluyeron pacientes varones con pápulas perladas peneanas que recibieron tratamiento con láser de dióxido de carbono fraccionado entre diciembre de 2023 y abril de 2014. Se trataron en total 75 pacientes. Previo al tratamiento se les realizó una encuesta para saber si había realizado consulta previa con especialista y los motivos para realizar el tratamiento. Se les realizó el primer control postratamiento entre 10 a 15 días post tratamiento. En caso de presentar pápulas perladas peneanas residuales se procedió a un segundo o tercer tratamiento. Se les realizó segundo y tercer control postratamiento entre 10 a 15 días postratamiento. En dicho segundo o tercer control se les realizó encuesta de satisfacción. Resultados. Todos los pacientes incluidos en nuestro estudio informaron que se lograron eliminar sus pápulas perladas peneanas: 13% (10 pacientes) en primera sesión, 82% (62 pacientes) en segunda sesión y solo 4% (3 pacientes) requirieron una tercera sesión. Conclusiones. Las pápulas perladas peneanas, aun siendo de etiología benigna y no contagiosa, reducen significativamente la calidad de vida sexual de los varones, especialmente los jóvenes, y merecen de un tratamiento médico. El tratamiento de las pápulas perladas peneanas mediante uso de láser de dióxido de carbono fraccionado demostró ser un tratamiento rápido, seguro y eficaz

Pearly penile papules are acral angiofi bromas, benign, non-infectious, asymptomatic lesions around the male glans. Due to their appearance, they often cause distress, decreased self-esteem, and difficulties in sexual intimacy. All this leads to a deterioration in the quality of sexual life. Methods. Male patients with pearly penile papules who received fractionated carbon dioxide laser treatment between December 2023 and April 2014 were included. A total of 75 patients were treated. Before the treatment, a survey was conducted to fi nd out if they had previously consulted with a specialist and what motivated them to undergo the treatment. They underwent their first post-treatment control between 10 to 15 days after treatment. If residual pearly penile papules were present, a second or third treatment was performed. A second and third post-treatment control was carried out between 10 to 15 days after treatment. In said second or third control, a satisfaction survey was carried out. Results. All patients included in our study reported that their pearly penile papules were eliminated: 13% (10 patients) in the fi rst session, 82% (62 patients) in the second session, and only 4% (3 patients) required a third session. Conclusions. Pearly penile papules, even though they are of benign and non-contagious etiology. They signifi cantly reduce the quality of sexual life of men, especially young men, and deserve medical treatment. The treatment of pearly penile papules using fractionated carbon dioxide laser proved to be fast, safe, and effective.

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Introduction: To prevent vaginal stenosis, the use of a vaginal dilator is recommended. Objective: To analyze sociodemographic data, gynecological conditions and the use of vaginal dilator after pelvic brachytherapy. Materials and Methods: Cross-sectional, retrospective study, period 2016-2020, collected between October/2020 and February /2021, from records of women with gynecological cancer treated with brachytherapy at the Centro de Pesquisa Oncológicas (Brazil). The variables included sociodemographic data and gynecological conditions in following the treatment. In the analysis, descriptive statistics, chi-squaretest, Fisher's exact test and Mann-Whitney test were applied. Results: 519 patients records were included in the investigation; the analyzes showed significant associations between the topography and staging (p<0.001), education (p=0.004) and age (p<0.001); the comparison between the distribution of the ionizing radiation dose showed a difference with the continued sexual relationship category (p=0.006); the comparison between the proportions of continued sexual relationship and using a vaginal dilator was significant (p<0.001); 49.10% (131) adhered to the use of vaginal dilator; 24.50% (127) are not sexually active and do not adhere to the use of the dilator. Discussion: It is evident that social and gynecological conditions interfere with the presence of vaginal stenosis and the use of a vaginal dilator after pelvic brachytherapy. Conclusions: The adherence found in the use of dilator affirms the contributions and the need for health education by nurses and physicaltherapists during and following the treatment.

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Infection by Leptospira sp., mainly strains from the Sejroe serogroup, impairs the reproductive efficiency of ruminants leading to economic losses. Although the majority of experimental studies use the intraperitoneal route of leptospiral infection, it has been suggested that natural infection occurs frequently by sexual transmission. Thus, we assessed the genital route of infection to study genital leptospirosis in the sheep model. A strain of L. borgpetersenii serogroup Sejroe, serovar Hardjobovis was inoculated in 18 ewes, divided into three groups for inoculation: intraperitoneal (n=6; Gip), cervical superficial (genital) (n=6; Ggen) and conjunctival (n=6; Gconj). Monthly, for 90 days, blood samples were collected for serology (MAT) and PCR was performed on urine, cervical-vaginal mucus, and uterine fragments. All ewes were successfully infected, independently of the infection route. Gip and Ggen did not differ throughout the experiment, either on seroconversion or on PCR positivity on urine or genital samples. In contrast, Gconj presented fewer seroreactive animals (P<0.05) and fewer PCR-pos on genital samples than the other groups. The results obtained demonstrated that, although all groups presented both urinary and genital infections, the genital route was more efficient and did not differ from the traditional intraperitoneal. It indicates that genital via, besides being a naturally occurring transmission via, represents a promising and interesting route regarding future studies related to genital leptospirosis in ruminants, and its use should be encouraged.

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Introduction: Genital tuberculosis (GT) is an infection that can affect the female reproductive system, including the uterus, cervix, and ovaries. Objective: To perform a scientometric exploration to analyze the spatiotemporal trend, evolution, and emerging patterns of scholarly output on GT and female infertility. Methods: An observational, descriptive, retrospective study employing a scientometric methodology was carried out. Metadata from scholarly articles spanning the years 1990-2022 were extracted from the Web of Science. The metadata from the chosen articles, totaling 172 manuscripts, were exported on May 17, 2023, in plain text format, which will allow the analysis and integration of the data in the software used. Results: We found at 111 sources and found 172 documents on tuberculosis and female infertility. We observed an average annual growth rate of 7.46 %, and the average age of the documents was 10.4 years. The dual overlay map showed the distribution of scientific publications on tuberculosis and female infertility. Journals on the left side of the map are cited mainly in the journals on the right. We found that Clinical Infectious Diseases and Lancet journals condensed patterns and trends in 1995, while the Indian Journal of Tuberculosis did so in 1996. Dheda K., Joubert JJ., and Wang Y. were the authors who had India, Iran, and China as their main affiliation, respectively, and they mainly published their studies in the "American Journal of Respiratory and Critical Care Medicine" and "Tropical Doctor," among others. Conclusions: This bibliometric study examined different sources and found an average annual growth rate of 7.46 %. Each article received an average of 16.48 citations. Different collaborative networks between countries were observed. In addition, there was a steady growth in published research in the field of tuberculosis and female infertility.

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In insect taxa with homogeneous external morphology, genital structures often emerge as essential traits for interspecific differentiation. In the tribe Ptomaphagini (Coleoptera, Leiodidae, Cholevinae), precise identification often depends on analyzing the male genital morphology, even at the genus level. Here, we present a new character for diagnosing the genera Paulipalpina Gnaspini & Peck, 1996 and Parapaulipalpina Gnaspini, 1996. This feature, which we dub 'paralobe', is a projection arising from the internal surface of the right lobe of the aedeagal apex. Based on its absence in other beetles, including other Ptomaphagini, we recognize it as a putative synapomorphy for those genera. The recognition of this previously overlooked structure adds important information for understanding the sequence of changes that occurred in the male genitalia among the genera of Ptomaphagini.

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BACKGROUND: Little is known about the aetiology of urethral discharge syndrome (UDS) and genital ulcer disease (GUD) in Brazil due to limited access to laboratory tests and treatment based mainly on the syndromic approach. OBJECTIVES: To update Brazilian treatment guidelines according to the current scenario, the first nationwide aetiological study for UDS and GUD was performed. METHODS: Male participants with urethral discharge (UD) and/or genital ulcer (GU) reports were enrolled. Sample collection was performed by 12 sentinel sites located in the five Brazilian regions. Between 2018 and 2020, 1141 UD and 208 GU samples were collected in a Universal Transport Medium-RT (Copan). A multiplex quantitative PCR kit (Seegene) was used to detect UD: Chlamydia trachomatis (CT), Mycoplasma genitalium (MG), M. hominis (MH), Neisseria gonorrhoeae (NG), Trichomonas vaginalis (TV), Ureaplasma parvum (UP), U. urealyticum (UU) and another kit to detect GU: cytomegalovirus (CMV), Haemophilus ducreyi (HD), herpes simplex virus type 1 (HSV1), herpes simplex virus type 2 (HSV2), lymphogranuloma venereum (LGV), Treponema pallidum (TP) and varicella-zoster virus (VZV). RESULTS: In UD samples, the frequency of pathogen detection was NG: 78.38%, CT: 25.6%, MG: 8.3%, UU: 10.4%, UP: 3.5%, MH: 3.5% and TV: 0.9%. Coinfection was assessed in 30.9% of samples, with 14.3% of NG/CT coinfection. The most frequent pathogen identified in GU was HSV2, present in 40.8% of the samples, followed by TP at 24.8%, LGV and CMV at 1%, and HSV1 at 0.4%. Coinfection of TP/HSV2 was detected in 4.4% of samples. VZV and HD were not detected. In 27.7% of the GU samples, no pathogen was detected. CONCLUSION: This study provided the acquisition of unprecedented data on the aetiology of UDS and GUD in Brazil, demonstrated the presence of a variety of pathogens in both sample types and reaffirmed the aetiologies known to be most prevalent globally.

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Mpox is a viral zoonotic disease that is endemic in Central and West Africa and belongs to the Orthopoxvirus genus. A global outbreak of mpox began in May 2022, mainly due to the transmission of the clade 11b virus through person-to-person contact with the lesions or scabs of a person infected with mpox. The data on mpox infection in the Caribbean is sparse. Here we report the clinical features and follow-up of the first two confirmed cases of mpox in Trinidad and Tobago (T&T). Both patients were men who have sex with men (MSM) who presented with genital lesions and expressed concern about increased stigma towards their already marginalized community.

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Genital self-image (GSI) involves subjective perceptions, experiences, and feelings of individuals regarding their genitalia. A negative GSI contributes to lower sexual esteem and, consequently, negative sexual experiences and sexual dysfunction. In men, self-perception may be influenced by several factors, including penis size or shape, personal experiences, body image, general health status, sex education, and even the media they consume. This study aimed to understand the reasons that lead to dissatisfaction with GSI among Brazilian men. With a mixed approach, we present male perceptions regarding dissatisfaction with GSI captured from the following question: "If you are dissatisfied with your genitals, tell us for what reason(s)? (Optional)," which integrated the last questionnaire element of the original survey. Brazilian men over 18 years of age from different Brazilian states were eligible. In this analysis, 376 responses were obtained. The data were analyzed using thematic content analysis. The participants expressed the reasons for dissatisfaction, which were grouped into two categories: (1) anatomical aspects and beliefs in the construction of GSI and (2) functional aspects. The results offer an understanding of men's perceptions of their genitals and may aid in clinical practice and research on how Brazilian men perceive their genitals. It is possible to improve knowledge about sexual health and increase positivity regarding genital perception by providing information about the reasons that lead to dissatisfaction with the genitals.

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The consumption of Western diet (WD) - enriched in fats and sugars - is associated with overweight, obesity and male reproductive disorders. In addition to WD intake, crops and dairy products display residues of herbicides, including glyphosate and 2,4-D that are widely applied worldwide. The concomitant exposure to WD and herbicides - mimicking contemporary scenarios - is not fully investigated. Thus, we evaluated the effects of glyphosate and 2,4-D, alone or in mixture, on WD-induced alterations in the male genital system. Male C57BL6J mice were submitted to WD (chow containing 20% lard, 0.2% cholesterol, 20% sucrose, and high sugar solution with 23.1 and 18.9 g/L of D-fructose and D-glucose) for 6 months. Concomitantly to WD, the animals received glyphosate (0.05, 5, or 50 mg/kg/day), 2,4-D (0.02, 2 or 20 mg/kg/day) or their mixture (0, 05 + 0.02, 5 + 2, or 50 + 20 mg/kg/day) by intragastrical administration (5×/week). Doses were based on Acceptable Daily Intake (ADIs) or No Observed Adverse Effect Level (NOAEL) values. Herbicide exposure did not alter the WD-induced obesity, hypercholesterolemia and hyperglycemia. WD induced sperm cell abnormalities, reduced the number, volume and area of Leydig cells, enhanced the frequency of epididymal abnormalities, decreased the proliferation in both germinal and epididymal epithelia, and reduced the number of androgen receptor (AR) positive epididymal cells. Remarkably, the herbicide mixtures promoted such WD-induced effects: increased the frequency of sperm cell and epididymal abnormalities (absence of sperm, cytoplasmic vacuoles, and clear cell hypertrophy) (5 + 2 and 50 + 20 doses); decreased Leydig cell nuclei volume and area (5 + 2 and 50 + 20 doses), reduced epididymal cell proliferation (all mixtures), and AR expression (50 + 20 dose). In addition, herbicide mixtures reduced serum testosterone levels (5 + 2 and 50 + 20 doses). Our findings indicate that the mixture of glyphosate and 2,4-D herbicides, mimicking environmentally relevant scenarios, promotes WD-induced changes in the male genital system.

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Campylobacter fetus spp. is a bacterium associated to reproductive losses in cattle worldwide. It is a venereal infectious disease known as bovine campilobacteriosis, with high impact mainly in countries with extensive production systems. Here, we show pathogenesis and diagnostic methods for Campylobacter fetus detection in cervico-vaginal mucus (CVM) samples from heifers experimentally infected and field cases from herds with low reproductive performance by campylobacteriosis infection. Bacterial culture, direct immunofluorescence test and qPCR were used as diagnostic methods to evaluate detection of C. fetus. In the experimental model 30 Aberdeen Angus and crossbred heifers and 4 Aberdeen Angus bulls for natural mating were assigned to 3 groups experimentally challenged with C. fetus subsp. fetus (Cff), C. fetus subsps venerealis (Cfv) and C. fetus subsp venerealis biovar intermedius (Cfvi), respectively, and a negative control group, all followed for 9 months. Also, field samples of CVM and aborted fetuses were recollected from seven beef cattle farms. Bacteriological culture had the higher C. fetus detection rate in CVM being the most appropriate, followed by qPCR (with commercial extraction DNA kit), direct immunofluorescence test and qPCR (with in-house extraction DNA method), in both, experimental model and field cases. From experimental model after natural mating, 62.5% and 25% heifers got pregnant from Cff and Cfvi groups, respectively, while from Cfv no pregnancy was detected. The strain more frequently detected was Cfvi, followed by Cff and Cfv. Colonization of Cff in female genital tract with high number of carriers and presence in aborted fetuses was evidenced, suggesting a high risk to bovine reproductive health. Bacteriemia was not detected after genital infection. Given the low detection rate of either test, we suggest the use of both, PCR based methods and bacterial culture could result in higher detection rate in farms with endemic campylobacteriosis.

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A necropsy was performed on a 43-year-old female zoo chimpanzee, with cancer in the vulvar and perivulvar region. She was diagnosed with squamous cell carcinoma, the presence of this tumor in domestic animals and non-human primates is very rare in the vulvar region and there were no previous reports found on it in chimpanzee, due to which this report contributes to the knowledge on chimpanzee pathologies.

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Resumo Este artigo analisa tensões e disputas entre o campo da ginecologia e da cirurgia plástica estética, especialidades autorizadas a realizar a cirurgia estética genital feminina no Brasil. Utiliza material documental, incluindo artigos científicos desde a década de 1990, e sites institucionais. Enquanto ginecologistas têm se mantido mais cautelosos com a prática, defendendo sua realização apenas quando há indicações funcionais, cirurgiões/ãs plásticos/as têm sido mais influentes na disseminação do procedimento, privilegiando a dimensão estética. Argumenta-se que, para além de disputas entre campos profissionais, esse fenômeno precisa ser entendido à luz da crescente ênfase no aprimoramento de si, via recursos biomédicos, e dos imperativos de gênero.

Abstract This article analyzes the tensions and disputes between the fields of gynecology and esthetic plastic surgery, the specialties which are authorized to perform aesthetic female genital surgeries in Brazil. Documentary materials are used, including scientific articles from the 1990s onward and institutional websites. While gynecologists have remained more cautious, recommending the surgery only for functional reasons, plastic surgeons have been more influential in publicizing these procedures and emphasizing the aesthetic dimension. Beyond professional disputes, we debate whether this phenomenon needs to be understood in light of the growing emphasis on self-improvement via biomedical resources and gender imperatives.

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SUMMARY OBJECTIVE: Female genital mutilation/cutting impacts over 200 million women globally and is linked to obstetric complications as well as long-term urogynecological and psychosexual issues that are frequently overlooked and inadequately addressed. This study aimed to assess the impact of female genital mutilation/cutting on urinary incontinence. METHODS: This cross-sectional study was conducted in the gynecology department of the Research Hospital located in the Nyala rural region of Sudan. The participants were interviewed to gather socio-demographic and background information. In addition, they received a thorough gynecological examination to evaluate the presence and type of female genital mutilation/cutting. The Incontinence Impact Questionnaire and the Urogenital Distress Inventory were applied to the group with female genital mutilation/cutting and the control group without female genital mutilation/cutting to evaluate urinary incontinence and related discomfort. Subsequently, the scores of both participant groups were compared. RESULTS: The study compared age, weight, height, BMI, gravida, parity, and sexual intercourse averages between groups. The mean Urogenital Distress Inventory-6 and Incontinence Impact Questionnaire-7 scores of individuals who underwent mutilation were higher than those of individuals who did not undergo mutilation (p<0.001). Notably, participants subjected to infibulation exhibited significantly higher average scores on both measures in contrast with the other groups (p<0.001). CONCLUSION: A higher proportion of mutilated participants, specifically those with infibulation, are afflicted with symptoms of incontinence.

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Background: In 2001, Skakkebæk et al. proposed that certain male reproductive disorders might be grouped into a syndrome called testicular dysgenesis syndrome (TDS), as they all appear to be associated with disruption of the embryonic and foetal programming of gonadal development. TDS may be manifested in early life by the presence of genital malformations (hypospadias and cryptorchidism) and in adult life as disorders represented by low sperm counts and testicular cancer. Changes in androgen hormones during the foetal development, in addition to resulting in TDS, can also cause permanent changes in anopenile anogenital distance (AGDap) and anoscrotal anogenital distance (AGDas). Aims: The objective of this study was to determine whether there is a relationship between late manifestations of TDS and reduced anogenital/anoscrotal distance. Materials and Methods: The present study is a systematic review and meta-analysis. The research included papers from 2001 to 2020, comprising a total of 737 articles, and 13 articles were selected. Results: Linear regression analysis was performed to evaluate the relationship between the two anogenital distance measures, which showed a significant positive association (P = 0.039). A meta-analysis was also performed and compared AGDap and AGDas between control and case groups, with cases defined as men with any late TDS manifestation. These data showed a significant reduction in AGDas in the affected population (P = 0.04), but no differences in the AGDap measure (P = 0.59). Conclusion: Our study confirmed a significant relationship between reduced AGDas and late manifestations of TDS, providing further support to the association between prenatal androgen deficiency and late-onset reproductive disorders.

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Bovine genital campylobacteriosis (BGC) and bovine trichomonosis (BT) are sexually transmitted diseases (STDs) that affect bovine breeding herds, decreasing their reproductive efficiency. The objective of this work was to estimate the prevalence of these diseases and their temporal-spatial distribution in the province of Formosa, Argentina. The cross-sectional study conducted between 2018 and 2021 included a total of 15,571 bulls, inter-herd prevalence being 29.62% and 17.23% for BGC and BT, respectively. The prevalence of positive animals was 2.05% for BGC and 0.43% for BT. The temporal-spatial analysis of BGC showed two distinct spatial groupings, one group had a low risk of contracting the disease (RR = 0.13; p < 0.001; 2018-2021) while the other group had a high risk (RR = 2.84; p < 0.001; 2020-2021). BT had a high-risk group for the disease (RR = 35.24; p < 0.001; 2019). This study shows that STDs are endemic in the region, providing updated and valuable information as a tool for the health management of these diseases.

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Background: Syphilis diagnosis relies on immunologic markers and clinical protocols. However, syphilitic lesions can be confused with other genital ulcer diseases. Methods: Using a PlexPCR VHS assay, we analyzed lesion DNA samples from 87 individuals who were clinically diagnosed with early syphilis infection and had at least 1 positive serologic test result. DNA was detected by the PlexPCR VHS multiplex assay and ß-globin genes. Results: Among the participants, 99% (86/87) had a positive rapid treponemal test result. DNA was successfully detected in 91% (79/87) of the lesion samples. PlexPCR VHS identified 5 herpes simplex virus (HSV)/Treponema pallidum coinfections (2 HSV-1 and 3 HSV-2), only T pallidum DNA in 62% (49/79), and only HSV-2 in 12.7% (10/79). While 19% (15/79) were negative for all pathogens, none were varicella zoster virus positive. The PlexPCR VHS had 68.4% agreement with the clinical diagnosis. Conclusions: Since the PlexPCR VHS detects multiple organisms simultaneously, it can help to confirm actual syphilis and identify other pathogen coinfections or the pathogen causing the ulcer.

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RESUMEN La tuberculosis es una de las principales causas de muerte generada por un agente infeccioso a nivel mundial. Generalmente su afectación es pulmonar, pero bajo ciertas circunstancias puede diseminarse a través de vía linfática o sanguínea y afectar tejidos u órganos distantes. En el embarazo puede ocasionar múltiples complicaciones maternas y neonatales. A pesar de ser un problema importante de salud pública, en la actualidad no existe suficiente evidencia en las guías sobre la epidemiologia, flujograma diagnóstico y tratamiento de la tuberculosis genital en el embarazo. Se presenta un caso de tuberculosis genital en el tercer trimestre del embarazo con evolución tórpida, dificultad para el diagnóstico y retraso en la instauración del tratamiento.

ABSTRACT Tuberculosis is one of the main causes of death generated by an infectious agent worldwide. It usually affects the lungs, but under certain circumstances it can spread through the lymphatic or blood routes and affect distant tissues or organs. In pregnancy it can cause multiple maternal and neonatal complications. Despite being an important public health problem, there is currently insufficient evidence in the guidelines on the epidemiology, diagnostic flow chart and treatment of genital tuberculosis in pregnancy. A case of genital tuberculosis in the third trimester of pregnancy with a torpid evolution is presented, with difficulty in diagnosis and delay in the establishment of treatment.

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Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC, NDUFV1, FGF3, FGF4, and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved.