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1.
Am J Perinatol ; 2022 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-35263768

RESUMEN

INTRODUCTION: Twin-twin transfusion syndrome (TTTS) is a typical complication of monochorionic twin pregnancies (MCTP). Placental vessels that communicate in the chorionic plate between donor and recipient, are responsible for the imbalance of blood flow. Circulatory imbalance causes hypovolemia in donor and hypervolemia in recipient fetus. In a typical case, recipient fetus develops polyhydramnios, weight gain, cardiomegaly and hydrops fetalis. In contrast, donor fetus develops oligohydramnios and fetal growth restriction. AIM: The objective of this review is to evaluate in detail the main diagnostic aspects and add other important data for diagnosis of TTTS. SCIENTIFIC BASES: The main diagnostic event for this condition is based on the ultrasonographic discovery of oligohydramnios-polyhydramnios sequence. Other useful elements for diagnosis, staging and prognosis are fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation. CONCLUSIONS: Considerations regarding diagnosis of TTTS make it possible to emphasize that role of physicians treating patients with MCTP is to identify ultrasound sequence of oligohydramnios-polyhydramnios. Other ultrasonographic fetal data as fetal urinary bladder visualization, urinary bladder volumen measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves and cardiac evaluation; may help diagnosis, staging and prognosis of TTTS. It is their responsibility to accurately assess severity, therapeutic possibilities and prognosis. KEY POINTS: · The role of physicians treating patients with MCTP, regarding diagnosis of TTTS, must be to identify ultrasound sequence of oligohydramnios-polyhydramnios.. · Other ultrasonographic fetal data may help diagnosis, staging, and prognosis of TTTS as follows: fetal urinary bladder visualization, urinary bladder volume measurements, edema of subcutaneous and/or generalized tissue edema, Doppler flow velocity waves, and cardiac evaluation.. · It is physicians' responsibility to accurately assess severity, therapeutic possibilities, and prognosis of patients with MCTP and diagnosis of TTTS..

2.
Int J Gynaecol Obstet ; 164(1): 40-46, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37318113

RESUMEN

The relationship between events occurring during intrauterine development and later-life predisposition to long-term disease, has been described. The fetus responds to excess intrauterine exposure to high levels of corticosteroids, modifying their physiological development and stopping their growth. Fetal exposure to elevated levels of either endogenous (alterations in fetal hypothalamic-pituitary-adrenal axis) or synthetic corticosteroids, is one model of early-life adversity; to developing adult disease. At the molecular level, there are transcriptional changes in metabolic and growth pathways. Epigenetic mechanisms participate in transgenerational inheritance, not genomic. Exposures that change 11ß-hydroxysteroid dehydrogenase type 2 enzyme methylation status in the placenta can result in transcriptional repression of the gene, causing the fetus to be exposed to higher levels of cortisol. More precise diagnosis and management of antenatal corticosteroids for preterm birth, would potentially decrease the risk of long-term adverse outcomes. More studies are needed to understand the potential roles of factors to alter fetal corticosteroid exposure. Long-term infant follow-up is required to determine whether methylation changes in placenta may represent useful biomarkers of later disease risk. This review, summarize recent advances in the programming of fetal effects of corticosteroid exposure, the role of corticosteroids in epigenetic gene regulation of placental 11ß-hydroxysteroid dehydrogenase type 2 enzyme expression and transgenerational effects.


Asunto(s)
Placenta , Nacimiento Prematuro , Adulto , Embarazo , Femenino , Recién Nacido , Humanos , Placenta/metabolismo , 11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 2/genética , 11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 2/metabolismo , 11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 2/farmacología , Sistema Hipotálamo-Hipofisario/fisiología , Sistema Hipófiso-Suprarrenal/fisiología , Nacimiento Prematuro/inducido químicamente , Feto , Glucocorticoides/efectos adversos , Epigénesis Genética , Desarrollo Fetal/fisiología
3.
Clin Microbiol Infect ; 30 Suppl 1: S26-S36, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38128781

RESUMEN

BACKGROUND: Quantifying the resource use and cost of antimicrobial resistance establishes the magnitude of the problem and drives action. OBJECTIVES: Assessment of resource use and cost associated with infections with six key drug-resistant pathogens in Europe. METHODS: A systematic review and Bayesian meta-analysis. DATA SOURCES: MEDLINE (Ovid), Embase (Ovid), Econlit databases, and grey literature for the period 1 January 1990, to 21 June 2022. STUDY ELIGIBILITY CRITERIA: Resource use and cost outcomes (including excess length of stay, overall costs, and other excess in or outpatient costs) were compared between patients with defined antibiotic-resistant infections caused by carbapenem-resistant (CR) Pseudomonas aeruginosa and Acinetobacter baumannii, CR or third-generation cephalosporin Escherichia coli (3GCREC) and Klebsiella pneumoniae, methicillin-resistant Staphylococcus aureus, and vancomycin-resistant Enterococcus faecium, and patients with drug-susceptible or no infection. PARTICIPANTS: All patients diagnosed with drug-resistant bloodstream infections (BSIs). INTERVENTIONS: NA. ASSESSMENT OF RISK OF BIAS: An adapted version of the Joanna Briggs Institute assessment tool, incorporating case-control, cohort, and economic assessment frameworks. METHODS OF DATA SYNTHESIS: Hierarchical Bayesian meta-analyses were used to assess pathogen-specific resource use estimates. RESULTS: Of 5969 screened publications, 37 were included in the review. Data were sparse and heterogeneous. Most studies estimated the attributable burden by, comparing resistant and susceptible pathogens (32/37). Four studies analysed the excess cost of hospitalization attributable to 3GCREC BSIs, ranging from -€ 2465.50 to € 6402.81. Eight studies presented adjusted excess length of hospital stay estimates for methicillin-resistant S. aureus and 3GCREC BSIs (4 each) allowing for Bayesian hierarchical analysis, estimating means of 1.26 (95% credible interval [CrI], -0.72 to 4.17) and 1.78 (95% CrI, -0.02 to 3.38) days, respectively. CONCLUSIONS: Evidence on most cost and resource use outcomes and across most pathogen-resistance combinations was severely lacking. Given the importance of this evidence for rational policymaking, further research is urgently needed.


Asunto(s)
Antiinfecciosos , Staphylococcus aureus Resistente a Meticilina , Humanos , Teorema de Bayes , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Escherichia coli , Pseudomonas aeruginosa , Farmacorresistencia Bacteriana
4.
Biomedicines ; 10(10)2022 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-36289699

RESUMEN

The objective of this study was to assess the association between patients' epidemiological characteristics and comorbidities with SARS-CoV-2 infection severity and related mortality risk. An umbrella systematic review, including a meta-analysis examining the association between patients' underlying conditions and severity (defined as need for hospitalization) and mortality of COVID-19, was performed. Studies were included if they reported pooled risk estimates of at least three underlying determinants for hospitalization, critical disease (ICU admission, mechanical ventilation), and hospital mortality in patients diagnosed with SARS-CoV-2 infection. Evidence was summarized as pooled odds ratios (pOR) for disease outcomes with 95% confidence intervals (95% CI). Sixteen systematic reviews investigating the possible associations of comorbidities with severity or death from COVID-19 disease were included. Hospitalization was associated with age > 60 years (pOR 3.50; 95% CI 2.97−4.36), smoking habit (pOR 3.50; 95% CI 2.97−4.36), and chronic pulmonary disease (pOR 2.94; 95% CI 2.14−4.04). Chronic pulmonary disease (pOR 2.82; 95% CI 1.92−4.14), cerebrovascular disease (pOR 2.74; 95% CI 1.59−4.74), and cardiovascular disease (pOR 2.44; 95% CI 1.97−3.01) were likely to be associated with increased risk of critical COVID-19. The highest risk of mortality was associated with cardiovascular disease (pOR 3.59; 95% CI 2.83−4.56), cerebrovascular disease (pOR 3.11; 95% CI 2.35−4.11), and chronic renal disease (pOR 3.02; 95% CI 2.61−3.49). In conclusion, this umbrella systematic review provides a comprehensive summary of meta-analyses examining the impact of patients' characteristics on COVID-19 outcomes. Elderly patients and those cardiovascular, cerebrovascular, and chronic renal disease should be prioritized for pre-exposure and post-exposure prophylaxis and early treatment.

5.
Clin Microbiol Infect ; 28(8): 1057-1065, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35289294

RESUMEN

BACKGROUND: A significant increased risk of complications and mortality in immunocompromised patients affected by COVID-19 has been described. However, the impact of COVID-19 in solid organ transplant (SOT) recipients is an issue still under debate, due to conflicting evidence that has emerged from different observational studies. OBJECTIVES: We performed a systematic review with a meta-analysis to assess the clinical outcome in SOT recipients with COVID-19 compared with the general population. DATA SOURCES: PubMed-MEDLINE and Scopus were independently searched until 13 October 2021. STUDY ELIGIBILITY CRITERIA: Prospective or retrospective observational studies comparing clinical outcome in SOT recipients versus general populations affected by COVID-19 were included. The primary endpoint was 30-day mortality. PARTICIPANTS: Participants were patients with confirmed COVID-19. INTERVENTIONS: Interventions reviewed were SOTs. METHODS: The quality of the included studies was independently assessed with the Risk of Bias in Non-randomized Studies of Interventions tool for observational studies. The meta-analysis was performed by pooling ORs retrieved from studies providing adjustment for confounders using a random-effects model with the inverse variance method. Multiple subgroups and sensitivity analyses were conducted to investigate the source of heterogeneity. RESULTS: A total of 3501 articles were screened, and 31 observational studies (N = 590 375; 5759 SOT recipients vs. 584 616 general population) were included in the meta-analyses. No difference in 30-day mortality rate was found in the primary analysis, including studies providing adjustment for confounders (N = 17; 3752 SOT recipients vs. 159 745 general population; OR: 1.13; 95% CI, 0.94-1.35; I2 = 33.9%). No evidence of publication bias was reported. A higher risk of intensive care unit admission (OR: 1.56; 95% CI, 1.03-2.63) and occurrence of acute kidney injury (OR: 2.50; 95% CI, 1.81-3.45) was found in SOT recipients. CONCLUSIONS: No increased risk in mortality was found in SOT recipients affected by COVID-19 compared with the general population when adjusted for demographic and clinical features and COVID-19 severity.


Asunto(s)
COVID-19 , Trasplante de Órganos , COVID-19/epidemiología , Humanos , Trasplante de Órganos/efectos adversos , Estudios Prospectivos , Estudios Retrospectivos , Receptores de Trasplantes
13.
Repert. med. cir ; 33(2): 117-123, 2024.
Artículo en Español | LILACS, COLNAL | ID: biblio-1556338

RESUMEN

Introducción: el desarrollo de la genética en las últimas décadas ha abierto una nueva era. La medicina de precisión ha aprovechado estos avances para desempeñar un papel cada vez más importante en la prevención, el diagnóstico y tratamiento del cáncer. Objetivo: evaluar la utilidad de la medicina de precisión en la prevención, tratamiento y pronóstico en oncología. Discusión: los estudios de la carcinogénesis han llevado al descubrimiento de eventos cruciales en el desarrollo de neoplasias malignas, identificando subtipos distintos de varios tumores comunes desde el punto de vista molecular. Con ello se ha logrado una mejor caracterización de los tumores que antes solo dependía de los hallazgos histopatológicos y el desarrollo de nuevos fármacos, generando cambios en el paradigma de la atención del paciente oncológico. La identificación de mutaciones que pueden predisponer al cáncer como las mutaciones BRCA en el cáncer de mama, ha facilitado el cribado para identificar pacientes para ayudar a tomar decisiones y modificar el riesgo. Conclusiones: la eficacia de varias terapias antitumorales sugiere el inicio de una era en la que las acciones preventivas y decisiones clínicas estarán basadas en el perfil de anomalías genéticas del tumor, mejorando el pronóstico y la calidad de vida de los pacientes. Esto conducirá a que cada vez sea más frecuente este tipo de tratamiento de precisión basado en el perfil de cambios genéticos.


Introduction: advances in genetics in recent decades has ushered a new era. Precision medicine has used these advances to play an increasingly important role in cancer prevention, diagnosis and treatment. Objetive: was to evaluate the usefulness of precisión medicine in improving prevention, treatment and prognosis in oncology. Discussion: studies on carcinogenesis have propelled the discovery of crucial events in the development of malignant neoplasms, identifying specific molecular subtypes of several common tumors. This has resulted in a better charaterization of tumors, which previously depended only on anatomapathological findings, and has enabled the development of new drugs, which have shifted the oncologic care paradigm. The identification of mutations that may determine predisposition to cancer, such as, BRCA mutations in breast cáncer, has facilitated screening to identify patients and help improve decision making and modify risk. Conclusions: the efficacy of various antitumor therapies suggests the beginning of an era in which preventive actions and clinical decisions will be based on the profile of genetic abnormalities of the tumor, improving patient prognosis and quality of life. This will allow an increase in the use of this type of precision treatments based on the profile of genetic changes.


Asunto(s)
Humanos
14.
Eur J Obstet Gynecol Reprod Biol ; 234: 32-37, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30639954

RESUMEN

OBJECTIVE: The purpose of this review is to describe the historical and scientific basis of antenatal corticosteroids (ACS) therapy, to improve the management of preterm birth and decreasing rates of respiratory distress syndrome, intraventricular hemorrhage, necrotizing enterocolitis and perinatal mortality in premature infants. STUDY DESIGN: We searched MEDLINE/PubMed electronic database, the Cochrane Library, using medical subheading search words such as "ACS", "corticosteroids", "betamethasone" or "dexamethasone", matching with "preterm birth". RESULTS: This practice was initiated by Liggins and Howie in 1972 and is supported by the initial comprehensive meta-analysis of Crowley, Chambers and Keirse, in 1990, the NIH Consensus Development Conference in 1994, the second Consensus Conference to evaluate repeated courses of corticosteroids in 2000 and the practice recommendations of obstetric societies worldwide. ACS therapy before anticipated preterm birth is one of the most important antenatal therapies and an important evidence-based practice for reducing mortality, and decreasing rates of complications in premature infants. CONCLUSIONS: Today, there is no controversy that women with preterm birth <34 weeks should be ACS treated. Actually, rescue courses are recommended; while multiple, serial, repeated or weekly courses, are not recommended. In any clinical conditions, as preterm premature rupture of membranes, multiple pregnancies, severe preeclampsia/HELLP syndrome and fetal growth restriction; ACS is recommended.


Asunto(s)
Corticoesteroides/administración & dosificación , Betametasona/administración & dosificación , Dexametasona/administración & dosificación , Nacimiento Prematuro/tratamiento farmacológico , Corticoesteroides/efectos adversos , Animales , Betametasona/efectos adversos , Conferencias de Consenso como Asunto , Dexametasona/efectos adversos , Femenino , Madurez de los Órganos Fetales/efectos de los fármacos , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/prevención & control , Pulmón/embriología , Embarazo , Ensayos Clínicos Controlados Aleatorios como Asunto
15.
Repert. med. cir ; 33(2): 205-209, 2024. ilus
Artículo en Español | LILACS, COLNAL | ID: biblio-1561173

RESUMEN

Introducción: la enfermedad de Rosai-Dorfman, conocida como histiocitosis sinusal con linfadenopatía masiva, es una variedad muy rara de las histiocitosis reactivas de origen desconocido. Presentación del caso: paciente femenina de 32 años de edad quien consultó por dificultad respiratoria, voz ronca, estridor y múltiples zonas inflamadas en cuello y tronco desde hace 5 años. Al examen físico se detectaron ganglios linfáticos grandes, firmes y móviles submandibulares y múltiples nódulos en tronco. El examen histológico mostró características típicas de enfermedad de Rosai-Dorfman con afección ganglionar y extraganglionar. Discusión: es un proceso patológico que afecta los ganglios linfáticos cervicales, aunque puede haber lesiones en varias regiones, órganos y sistemas, lo cual puede confundirse con otras neoplasias. Debe considerarse en el diagnóstico diferencial de lesiones histiocíticas de tejidos blandos y otros trastornos linfoproliferativos. La mortalidad ocurre por la alteración funcional de órganos y sistemas más que por la propia enfermedad. Conclusión: la enfermedad de Rosai-Dorfman con afección ganglionar y extraganglionar es un trastorno histiocítico proliferativo benigno muy raro. Es importante considerarla como diagnóstico diferencial de otras enfermedades histiocíticas proliferativas. Su pronóstico es variable pero relativamente benigno.


Introduction: Rosai-Dorfman disease, known as sinus histiocytosis with massive lymphadenopathy, is a very rare variety of reactive histiocytosis of unknown origin. Case presentation: a 32-year-old female patient who consulted for a five-year history of respiratory distress, dysphonia, stridor and multiple swollen areas in the neck and trunk. Physical examination revealed large, firm, and mobile submandibular lymph nodes and numerous nodules on the trunk. Histological examination showed the characteristic features of Rosai-Dorfman disease with nodal and extranodal involvement. Discussion: Rosai-Dorfman disease is a pathological process which affects cervical lymph nodes, although lesions may develop in several sites, organs, and systems, and may be confused with other neoplasms. It should be considered in the differential diagnosis of soft tissue histiocytic lesions and other lymphoproliferative disorders. Death is related to organs and systems dysfunction rather than to the disease itself. Conclusion: Rosai-Dorfman disease including nodal and extranodal involvement, is a very rare benign proliferative histiocytic disorder. It should always be included in the differential diagnosis of other histiocytic proliferative disorders. It carries a variable relatively benign prognosis.


Asunto(s)
Humanos
16.
Rev. Fed. Centroam. Obstet. Ginecol. ; 28(1): 3-11, 25 de abril de 2024.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1552700

RESUMEN

Objetivo: Comparar las concentraciones de progesterona en saliva en pacientes sintomáticas con parto pretérmino inminente y pacientes con partos más allá de 7 días. Metodología: Estudio prospectivo y longitudinal realizado en el Hospital Central "Dr. Urquinaona" de Venezuela. Fueron seleccionadas pacientes con parto pretérmino en los siguientes 7 días (grupo A) y con parto pretérmino más allá de los 7 días (grupo B). Se analizaron las características generales, concentraciones de progesterona en saliva, parto pretérmino inminente y eficacia pronóstica. Resultados: Fueron incluidas 327 pacientes, 75 mujeres en el grupo A y 251 pacientes en el grupo B. Las pacientes del grupo A presentaron valores menores de progesterona en saliva (3,003 +/- 447 pg/mL) comparado con las pacientes del grupo B (3,639 +/- 430 pg/mL; p < 0,0001). El valor de corte predictivo fue de 3,100 pg/mL, demostrando un valor área bajo la curva de 0,834 con sensibilidad de 58,7%, especificidad de 84,9%, valor predictivo positivo de 53,7%, valor predictivo negativo de 87,3% y exactitud pronostica de 78,8% para la predicción de parto pretérmino inminente. Conclusiones: Las concentraciones de progesterona en saliva son significativamente más bajas en las pacientes con parto pretérmino inminente, comparado con aquellas pacientes con partos más allá de los 7 días. (provisto por Infomedic International)


Objective: To compare progesterone concentrations in saliva in symptomatic patients with imminent preterm labor and patients with deliveries beyond 7 days. Methodology: Prospective and longitudinal study carried out at the Central Hospital Dr. Urquinaona of Venezuela. Patients with preterm delivery within 7 days (group A) and with preterm delivery beyond 7 days (group B) were selected. General characteristics, saliva progesterone concentrations, imminent preterm delivery and prognostic efficacy were analyzed. Results: A total of 327 patients were included, 75 women in group A and 251 patients in group B. Patients in group A had lower saliva progesterone values (3.003 +/- 447 pg/mL) compared to patients in group B (3.639 +/- 430 pg/mL; p < 0.0001). The predictive cutoff value was 3,100 pg/mL, demonstrating an area under the curve value of 0.834 with sensitivity of 58.7%, specificity of 84.9%, positive predictive value of 53.7%, negative predictive value of 87.3% and prognostic accuracy of 78.8% for prediction of impending preterm labor. Conclusions: Saliva progesterone concentrations are significantly lower in patients with imminent preterm labor compared to those patients with deliveries beyond 7 days. (provided by Infomedic International)

17.
Repert. med. cir ; 33(1): 3-13, 2024.
Artículo en Español | LILACS, COLNAL | ID: biblio-1552217

RESUMEN

Introducción: el tejido adiposo ha sido objeto de estudio en las últimas décadas y existen nuevos conceptos de su compleja biología. Se conoce que la obesidad está asociada con un estado inflamatorio crónico de bajo grado tanto local como sistémico y parece desempeñar un papel clave en las consecuencias del aumento en diferentes comorbilidades metabólicas y vasculares. Discusión: de los diversos tipos de células inmunes que contribuyen a la inflamación inducida por la obesidad, los monocitos/macrófagos en el tejido adiposo juegan un papel central. Las modificaciones estructurales y fenotípicas de ambas células pueden contribuir no solo a alteraciones inflamatorias y metabólicas, sino también ayudar a mantener la homeostasis del tejido adiposo en respuesta al aumento de la grasa corporal. Los macrófagos son células efectoras esenciales en la organización de la inflamación, ya que se cree que promueven la progresión de la obesidad y los trastornos relacionados. No está completamente establecido si dichas células ejercen un papel beneficioso o nocivo en el tejido adiposo. En cualquier caso, su presencia modifica la biología de las células adiposas especializadas. Conclusiones: en esta revisión se analiza el conocimiento sobre la contribución de los monocitos/macrófagos dentro del tejido adiposo en el desarrollo y mantenimiento de la obesidad y las complicaciones potenciales relacionadas.


Asunto(s)
Humanos
19.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1515509

RESUMEN

La inflamación xantogranulomatosa del tracto genital femenino es infrecuente y es aún más rara en las trompas de Falopio y ovarios. Se presenta un caso de ooforosalpingitis xantogranulomatosa en una paciente femenina de 45 años quien asistió a consulta por presentar dolor en fosa iliaca izquierda acompañado de fiebre. La exploración bimanual mostró útero ligeramente aumentado de tamaño con masa anexial izquierda firme, no dolorosa, adherida al útero y con limitada movilidad. La evaluación ecográfica transvaginal determinó tumoración ovárica izquierda, heterogénea con paredes gruesas e irregulares con múltiples septos y ecos internos sin visualizar el ovario. Durante la cirugía, se encontraron adherencias densas desde la masa hacia la pared lateral pélvica, fosa ovárica y asas intestinales. El útero estaba desplazado por tumoración anexial quística izquierda, de color blanco grisáceo y paredes gruesas que drenaba líquido purulento fétido. El diagnóstico definitivo fue ooforosalpingitis xantogranulomatosa. Esta condición es un proceso inflamatorio poco frecuente que plantea dilemas diagnósticos. Sus manifestaciones clínicas y características de estudios por imágenes pueden simular una neoplasia pélvica maligna, por lo que es necesario un alto índice de sospecha para su diagnóstico, como diagnóstico diferencial en pacientes con tumoraciones ováricas quísticas complejas. El examen histopatológico es el estándar de oro para el diagnóstico.


Xanthogranulomatous inflammation of the female genital tract is infrequent and is even rarer in fallopian tubes and ovaries. We present a case of xanthogranulomatous oophorosalpingitis in a 45-year-old female patient who consulted for left iliac fossa pain accompanied by fever. Bimanual examination revealed a slightly enlarged uterus with a firm, non-painful left adnexal mass, adherent to the uterus and with limited mobility. Transvaginal ultrasound evaluation showed a heterogeneous left ovarian tumor with thick and irregular walls, multiple septa and internal echoes without visualization of the ovary. During surgery, dense adhesions were found from the mass to the pelvic lateral wall, ovarian fossa, and bowel loops. The uterus was displaced by a thick-walled, grayish-white, cystic left adnexal tumor draining foul-smelling purulent fluid. The definitive diagnosis was xanthogranulomatous oophorosalpingitis. This condition is a rare inflammatory process that poses diagnostic dilemmas. Its clinical manifestations and imaging features may mimic a malignant pelvic neoplasm, so a high index of suspicion is necessary for its diagnosis, as a differential diagnosis in patients with complex cystic ovarian tumors. Histopathological examination is the gold standard for diagnosis.

20.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1536700

RESUMEN

La ictiosis arlequín, también conocida como queratosis difusa fetal, es un trastorno cutáneo hereditario, extremadamente raro y grave desde el punto de vista fenotípico, con herencia autosómica recesiva. La enfermedad es causada por mutaciones en el gen de la proteína transportadora de casetes de unión a trifosfato de adenosina (ABCA12). La ecografía prenatal y el análisis genético son importantes para el diagnóstico prenatal. El diagnóstico ecográfico prenatal es difícil y los hallazgos incluyen placas de ectropión, pabellón auricular anormal, nariz plana, piel engrosada con apariencia de armadura, labios engrosados con estado sostenido de boca abierta (boca de pez) y fijación en flexión de las extremidades. Estas generalmente son encontradas durante el tercer trimestre. La ecografía tridimensional contribuye a la evaluación de la morfología facial. El pronóstico es generalmente desfavorable. Los neonatos afectados no suelen sobrevivir más allá de los primeros días de vida. Se presenta un caso de diagnóstico prenatal de ictiosis arlequín.


Harlequin ichthyosis, also known as diffuse fetal keratosis, is an extremely rare and phenotypically severe hereditary skin disorder with autosomal recessive inheritance. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein (ABCA12) gene. Prenatal ultrasonography and genetic analysis are important for prenatal diagnosis. Prenatal ultrasonographic diagnosis is difficult, and findings include ectropion plates, an abnormal auricular pinna, a flat nose, thickened skin with an armor-like appearance, thickened lips with sustained open mouth (fish mouth) status, and flexion fixation of the extremities. These are usually found during the third trimester. Three-dimensional ultrasonography contributes to the evaluation of facial morphology. The prognosis is generally poor. Affected neonates usually do not survive beyond the first days of life. A case of prenatal diagnosis of harlequin ichthyosis is presented.

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