ABSTRACT
Epidemiological data on women suffering from vulvovaginal candidiasis and its recurrence are outdated and vague. The aim of this study was to identify the prevalence of women diagnosed with vulvovaginal candidiasis, as well as the epidemiological profile and associated risk factors in the province of Granada (Spain). Data from the Centre for Sexually Transmitted Infections of the Granada province between 2000 and 2018 (N = 438) were used in this study. Associations between sociodemographic and sexual behaviour variables with vulvovaginal candidiasis were analysed using the Chi-square test and bivariate logistic regression. The prevalence of candidiasis was 14.6%. The sociodemographic profile corresponded to a woman aged 25.14 ± 4.8 years on average, who is of Spanish nationality (60.9%), a student (55.7%), in non-active employment (59.7%), with a higher education (56.7%), single (93.5%), and under 30 years of age (79.7%). Variables associated with this diagnosis were the absence of oro-genital contact (OR = 1.99; 95% CI = 0.25-0.74), having a regular partner (OR = 1.99; 95% CI = 1.05-3.75), and age of sexual debut, with the probability increasing by 12% (95% CI = 1.00-1.24) with each year. In this context, vulvovaginal candidiasis infection is common, and its epidemiological profile is contradictory, so our results do not suggest a relevant role of sexual risk behaviours in the diagnosis. Further research is needed to improve the estimates and factors associated with this infection.
ABSTRACT
BACKGROUND: Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. METHODS: The study was carried out in 15 patients with SCN1A variants. The complete phenotype of the patients was evaluated. A systematic search was carried out in the scientific literature for those unexpected symptoms. RESULTS: Ten patients showed a missense variant, whereas the remaining showed different loss-of-function variants. Twelve (80%) had Dravet syndrome. Two (13.3%) had Epilepsy with febrile seizures plus. Three (20%) presented an atypical phenotype. One of them was developmental and epileptic encephalopathy with arthrogryposis, the other Dravet syndrome and movement disorder, and lastly one patient had Dravet syndrome and malformations of the cortical development. CONCLUSION: The exhaustive assessment of patients with pathogenic alterations detected in massive sequencing can help us to expand the phenotype, understand the etiopathogenesis associated with each genetic abnormality, and thus improve the prognosis and management of future patients.
Subject(s)
Arthrogryposis , Epilepsies, Myoclonic , Malformations of Cortical Development , Movement Disorders , Spasms, Infantile , Arthrogryposis/genetics , Epilepsies, Myoclonic/genetics , Epileptic Syndromes , Humans , Movement Disorders/genetics , NAV1.1 Voltage-Gated Sodium Channel/genetics , PhenotypeABSTRACT
INTRODUCCIÓN: La leucoencefalopatía megalencefálica con quistes es una leucodistrofia de origen genético que produce una alteración de la homeostasis del agua e iones en el cerebro, generando formas vacuolares y edema crónico en la sustancia blanca con deterioro neurológico progresivo. Debe sospecharse en los lactantes que presentan macrocefalia progresiva durante el primer año de vida, retraso motor y hallazgos característicos en la resonancia magnética cerebral. CASO CLÍNICO: Niña en seguimiento desde los 9 meses por macrocefalia progresiva y retraso del desarrollo psicomotor con presencia en la resonancia magnética cerebral de hallazgos compatibles con leucoencefalopatía megalencefálica con quistes, y aparición de epilepsia en su evolución. Los estudios genéticos habituales (secuenciación de nueva generación y array) fueron negativos, pero, al cumplir los criterios diagnósticos, se procedió al estudio del ARN mensajero y el ADN complementario, que confirmó la presencia de dos variantes patogénicas en MLC1. CONCLUSIONES: La leucoencefalopatía megalencefálica con quistes es una entidad infrecuente. Es característica la macrocefalia progresiva en el primer año de vida, la ausencia de deterioro o deterioro lento, y la posibilidad de desarrollar epilepsia, espasticidad y ataxia en su evolución. Cobra importancia en dichos pacientes la realización de una prueba de imagen que muestre hallazgos propios de la entidad, lo que, junto con la clínica, permite diferenciarla de otras leucodistrofias y establecer un diagnóstico confirmatorio. Los estudios genéticos pueden constatar la mutación asociada que posibilita predecir el fenotipo clinicorradiológico
INTRODUCTION: Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progressive neurological deterioration. It should be suspected in infants who present progressive macrocephaly during the first year of life, motor retardation and characteristic findings in magnetic resonance brain scans. CASE REPORT: We report the case of a girl who was followed up from the age of 9 months due to progressive macrocephaly and delayed psychomotor development and brain MRI findings consistent with megalencephalic leukoencephalopathy with cysts, and the appearance of epilepsy during its development. The usual genetic studies (new generation sequencing and array) were negative, but as the diagnostic criteria were met, a complementary messenger RNA and DNA study was conducted, which confirmed the presence of two pathogenic variants in MLC1. CONCLUSIONS: Megalencephalic leukoencephalopathy with cysts is a rare condition. Progressive macrocephaly in the first year of life, the absence of deterioration or slow deterioration, and the possibility of developing epilepsy, spasticity and ataxia are characteristic signs in its course. It is important for these patients to undergo an imaging test that shows findings that characterise this condition, which, together with the clinical features, makes it possible to differentiate it from other leukodystrophies and to establish a confirmatory diagnosis. Genetic studies can confirm the associated mutation that makes it possible to predict the clinicoradiological phenotype
