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1.
Genet Genom Clinic ; 2(2): 73-77, 31 de agosto de 2024.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1568240

RESUMO

RESUMEN: La gerodermia osteodisplástica (GO) es un trastorno genético poco frecuente de carácter autosómico recesivo dentro de los trastornos de cutis laxa, caracterizado por una piel laxa y arrugada, osteoporosis que lleva a fracturas espontáneas, luxación de cadera congénito, laxitud de articulaciones, signos de progeria, retraso del desarrollo y discapacidad intelectual. Esta es una condición causada por mutaciones genéticas en el gen GORAB (1q24.2). Presentamos el caso de una lactante menor de 3 meses de edad, con un fenotipo característico de esta condición, piel laxa y arrugada, especialmente en sus manos y pies, además de una luxación de rodilla. Se le realizó un panel genético para colagenopatías, que identificó una alteración en el gen GORAB confirmando el diagnóstico de Gerodermia osteodisplástica.   (provisto por Infomedic International)


ABSTRACT: Gerodermia osteodysplastica (GO) is a rare genetic disease in which the inheritance is autosomal recessive within Cutis laxa disorders, it is characterized by a lax and wrinkled skin, osteoporosis leading to spontaneous fractures, congenital dislocation of the hips, hyperextensible joints, progeroid features, developmental delay and intellectual deficit. This is a condition caused by genetic mutations in the GORAB gene (1q24.2). We present the case of a 3-month-old infant with the typical phenotype of this condition, lax and wrinkled skin, specially the hands and feet, in addition to a knee dislocation. A panel testing for connective tissue disorders was performed, which identified an alteration in the GORAB gene, confirming the diagnosis de Gerodermia osteodysplastica. (provided by Infomedic International)

2.
Ther Adv Infect Dis ; 11: 20499361241256290, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38827952

RESUMO

Background: Syphilis is a serious global public health challenge. Despite prior progress in syphilis control, incidence has been increasing in recent years. Syphilis is a common coinfection among people living with HIV (PLHIV). In Panama, few data describe syphilis prevalence among PLHIV. We describe syphilis antibody and high-titer (⩾1:8) active syphilis prevalence and associated factors among individuals who attended an antiretroviral clinic. Methods: A cross-sectional study was undertaken during February-March 2022 and September-October 2022 for adults (⩾18 year) assigned male and female at birth, respectively. Participants provided peripheral blood samples and self-administered a questionnaire. Samples were screened using immunochromatography; antibody-positive samples were tested using rapid plasma regain to 1:512 dilutions. Logistic regression was used to identify factors associated with syphilis antibody and high-titer active syphilis. Results: In all, 378 participants gave blood samples; 377 individuals participated in the questionnaire (216 self-reported male sex [males], 158 female [females], and three intersex individuals). Median age was 36 years (interquartile range: 28-45 years). Overall, syphilis antibody prevalence was 32.3% (122/378) (males, 50.7% [108/2013]; females, 5.7% [9/158]; intersex individuals, 100.0% (3/3)], p < 0.01. High-titer active syphilis was found among 24.6% (n = 30) of samples with positive antibody test (males 27.8% [n = 30], females 0.0% [0/9], intersex individuals 0.0% [0/3]). Antibody positivity was associated in the multivariable model with males (50.7%, AOR = 24.6, 95%CI: 1.57-384.53). High-titer active syphilis was associated with younger participant age (18-30 years, 13.2%, OR = 4.82, 95%CI: 1.17-19.83); 31-40 years, 7.8%, OR = 4.24, 95%CI: 1.04-17.21 versus 3.2% >40 years), homosexual identity (16.0% OR = 34.2, 95%CI: 4.50-259.27 versus 0.6% among heterosexual identity); in the multivariable model, associated with sexual identity (bisexual 19.1%, AOR = 10.89, 95%CI: 1.00-119.06) compared to heterosexual identity (0.6%) and weakly associated with concurrency (⩾1 ongoing sexual relationships, 15.9%, AOR = 3.09, 95%CI: 0.94-10.14). Conclusion: This study found very high prevalence of syphilis antibodies and high-titer syphilis among PLHIV in Panama. Those most affected are males, younger in age, those who practice concurrent sexual relationships, and those who reported homosexual and bisexual identity. Targeted interventions should include repetitive testing and treatment, especially among individuals who may be at increased infection risk.


Prevalence of syphilis among people living with HIV who attend a large antiretroviral therapy clinic, Panama, 2022 Syphilis is a significant health challenge worldwide. On a global scale, yearly syphilis incidence is increasing, including in Panama. However, there are no current data to explain syphilis prevalence and who is most affected among people living with HIV in Panama. In order to understand syphilis in Panama and create targeted interventions among specific groups of people, it is important to describe how many people are infected, and who is most affected by this infection. Therefore, we conducted a study among 378 people living with HIV at a treatment clinic in Panama City, Panama. Blood samples and demographic data were collected. In all, syphilis antibodies were found in 32.3% of individuals (50.7% of those who self-report as males, 5.7% as females, and 100% of those who self-report as intersex. Of those with positive antibody tests, 24.6% of individuals also had active syphilis. Only individuals who identify as male had active syphilis. Our findings show high syphilis prevalence among people with HIV in Panama City, particularly among males, those who are younger, those who report sexual identity as homosexual or bisexual, and those with ongoing sexual relationships with more than one individual. Targeted interventions are needed among people living with HIV, especially among the groups most affected. These interventions could include testing more often for syphilis and providing timely treatment, especially among individuals who may be at increased risk of infection.

3.
Lancet Reg Health Am ; 17: 100383, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36776569

RESUMO

Background: Adolescent dating violence (ADV) can have lasting effects on youth's well-being and development. However, few studies in Latin America have described its prevalence and risk factors for having experienced ADV. Methods: We conducted a multisite, cross-sectional study using two-stage cluster sampling among adolescents (14-19 years) attending public high schools in the urban districts of Panama, San Miguelito, Colón, and Arraiján/La Chorrera from 2015 to 2018 (N = 2469). All completed a tablet-based, self-administered questionnaire. Random effects logistic regression was used to identify risk factors for each ADV type among adolescent boys and girls separately. Findings: Participants reported experiencing a range of ADV at least once (girls: emotional 61.6%, physical 7.9%, sexual 21.0%; boys: emotional 73.4%, physical 24.1%, sexual 28.9%). In adjusted models, participants with a history of sexual intercourse had greater odds of ADV than those without such history across types (boys: emotional and sexual; girls: emotional, physical, and sexual). Additionally, participants who reported three or more romantic partners in the past year had greater odds of ADV than those with one partner (boys: emotional, physical; girls: physical). Girls with an earlier sexual debut (≤14 years vs ≥15 years) had greater odds of reporting ADV (emotional and sexual violence). No associations were found between reporting dating violence survival and the sex of romantic partners in the past year or the age of the current/most recent sex partner. Interpretation: This study reveals a high prevalence of ADV among adolescents in urban public schools in Panama. These findings support the need for program implementation to address ADV. Funding: Funding to undertake this study was acquired from Panama's Ministry of Economics and Finance, project number 009044.049.

4.
Front Reprod Health ; 4: 953979, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36523789

RESUMO

Background: The foot transit of migrant peoples originating from the Caribbean, South America, Asia, and Sub-Saharan Africa through the Darién Forest (DF) in Eastern Panamá towards North America has increased in recent years from approximately 30,000 people/year to >133,000 in 2021. In the DF, there is no food/housing provision nor healthcare access. Very little is known of sexual and reproductive health (SRH) among this population. This study used rapid epidemiological methods to describe the SRH situation among migrant peoples in transit through the DF. Methods: This cross-sectional study randomly selected migrant people in transit (men and women) at a Migrant Reception Station in Darién, Panamá, between January 4-11, 2022. Data collection included a self-applied questionnaire (≥18 years); clinical screening (≥12 years); and HCG, treponemal antibodies, and HIV(I/II) lateral-flow tests with blood samples (≥12 years). Descriptive analyses were used to report findings. Results: In all, 69 men and 55 women participated in the self-applied questionnaire, 70 men and 51 women in clinical screening; 78 men and 63 women in HCG, treponemal antibody and HIV testing. Overall, 26.1% (18/69) men and 36.4% (20/55) women reported sexual intercourse within the past month. The last sex partner was casual among 43.0% (21/49) of men and 27.8% (10/36) of women; of those, 42.9% (9/21) of men and 80.0% (8/10) of women reported this sex was condomless. Among women, 20.0% (11/55) tested positive for pregnancy; 5 of these pregnancies were planned. Of those screened, a reproductive tract infection symptom was reported by 5.7% (4/70) of men and 58.8% (30/51) of women. A total of 32.7% (18/55) of men and 18.2% (8/44) of women reported no prior HIV testing. Of 78 men, HIV and treponemal antibodies were found among 1.3% (n = 1) and 2.6% (n = 2), and among 63 women, 3.2% (n = 2) and 3.2% (n = 2), respectively. Conclusions: This rapid epidemiological assessment found high recent sexual activity, low condom use with casual partners, and a need for increased HIV and syphilis testing and treatment. There is a need for increased testing, condom provision, and SRH healthcare access at migrant reception stations that receive migrant peoples in transit through Panamá.

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