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1.
Cureus ; 16(6): e61624, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38966450

RESUMEN

The article describes a successful clinical outcome in the case of a 24-year-old male with a diagnosis of an ostium secundum atrial defect secondary to a perforated aneurysm associated with vena cava agenesis. During hospitalization, an echocardiogram revealed the presence of ostium secundum inter-atrial communication with a left to right shunt, a left ventricular ejection fraction (LVEF) of 60%, and mild pulmonary hypertension, measured at 40 mmHg. CT imaging showed anomalous dilation of the azygos vein (16.8 mm), associated with interruption of the vena cava in the intrahepatic and adrenal portion, continuing through the azygos system and draining into the superior vena cava. Open-heart surgery was performed with pericardium patch placement on the defect. Postoperative transthoracic echocardiography revealed a tracking of the interatrial septum, with adequate placement of the surgical patch and no evidence of residual short circuits. The postoperative recovery was favorable, and the patient was discharged five days after surgery. Outpatient monitoring at the first and third months showed no complications during physical examination and echocardiogram imaging.

2.
J Clin Med ; 13(11)2024 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-38892796

RESUMEN

Background: Coronary arteries originate from the first portion of the aorta, emerging from the right and left aortic sinuses. They traverse through the subepicardium and coronary sulcus to supply the myocardium during diastolic function. The objective of this review was to understand how the hypoplasia and agenesis of the coronary arteries are associated with cardiac pathologies. Methods: The databases Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS were researched until January 2024. An assurance tool for anatomical studies (AQUA) was used to evaluate methodological quality. The pooled prevalence was estimated using a random effects model. Results: A total of three studies met the established selection criteria for inclusion in this meta-analysis. The prevalence of coronary artery variants was 3% (CI = 2% to 8%), with a heterogeneity of 77%. The other studies were analyzed descriptively, along with their respective clinical considerations in the presence of the variant. Conclusions: Hypoplasia and the congenital absence of the coronary arteries are often incidental findings and understanding these variants is crucial to prevent misdiagnosis. Additionally, it is essential to exercise caution when considering surgical management for hearts with these variants.

3.
Global Spine J ; : 21925682241263269, 2024 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-38865151

RESUMEN

STUDY DESIGN: Retrospective Cohort Study. OBJECTIVE: The study aimed to analyze anatomical variants of segmental spinal aplasia (SSA) and investigate factors influencing surgical treatment outcomes, with a specific focus on the incidence of complications. METHODS: The study focused on patients with SSA treated at a single medical center, with over two years of follow-up. Neurological function changes were evaluated using the modified Japanese Orthopedic Scale (mJOA). Functional independence was measured using the Functional Independence Measure (FIM/WeeFIM) scale, and complications, well-being, and reoperation instances were documented. Statistical analyses used ANOVA and Kruskal-Wallis test. RESULTS: The predominant localization of SSA in 36 own cases occurs near or at the level of the thoracolumbar junction, often accompanied by significant spinal cord narrowing and a low position of the conus medullaris. Additionally, it frequently presents with aplasia of the lower ribs. Cervicothoracic SSA was more commonly associated with segmentation disorders (P = .04). The most common early complications were wound problems (17%) and neurological deterioration (17%); the most common late complications were: non-fusion (34%); 38% of patients required one or more revision surgery. The type, age of surgery, level of surgery, and initial neurological deficient did not significantly influence the incidence of complications or neurological and functional outcomes. CONCLUSION: SSA, a range of anomalies appearing early in childhood, progresses gradually. Surgery involves vertebrectomy followed by interbody fusion and screw fixation, guided by neurophysiological monitoring. Surgery is recommended for worsening neurological symptoms, but conservative options like bracing can be considered, due to a high risk of complications.

4.
Cureus ; 16(2): e55142, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38558627

RESUMEN

We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis. The cytogenetic analysis showed findings related to clinical history and ultrasound findings related to the presence of a nucleotide change in c.578T>C with an amino acid change in p.Leu198Pro of the L1CAM gene. The result was reported as a hemizygote missense L1CAM gene variant of unknown significance. After extensive parental counseling, the couple decided on pregnancy termination. We report the present case of L1CAM mutation in p.Leu198Pro to add to the limited knowledge regarding the clinical presentation of mutations of the L1CAM gene with emphasis on prenatal diagnosis.

5.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1558097

RESUMEN

Objetivo: describir el impacto de la agenesia no sindrómica de incisivos laterales maxilares permanentes en la oclusión. Material y método: se realizó una búsqueda de la evidencia disponible de manera electrónica en las bases de datos PubMed, Cochrane Library, EBSCOhost, SciELO y Epistemonikos, con filtro de búsqueda de artículos publicados entre los años 2005 y 2022, y con disponibilidad de texto completo. Resultados: se seleccionaron 9 estudios publicados entre los años 2010 y 2021; 3 estudios genéticos, 4 estudios transversales y 2 revisiones sistemáticas. Conclusión: la agenesia no sindrómica de incisivos laterales maxilares permanentes se relaciona con alteraciones esqueléticas y dentales que inciden en la oclusión dental. Un diagnóstico temprano y un tratamiento oportuno, según las necesidades de cada paciente, son importantes por las repercusiones funcionales y estéticas que genera esta alteración.


Objective: to describe the impact of non-syndromic agenesis of permanent maxillary lateral incisors on occlusion. Material and method: a search of the electronically available evidence was carried out in the PubMed, Cochrane Library, EBSCOhost, SciELO and Epistemonikos databases, with a search filter for articles published between 2005 and 2022, and with full text availability. Results: 9 studies were selected, published between 2010 and 2021: 3 genetic studies, 4 cross-sectional studies and 2 systematic reviews. Conclusion: Non-syndromic agenesis of permanent maxillary lateral incisors is related to skeletal and dental abnormalities that affect dental occlusion. Because of the functional and aesthetic repercussions of this alteration, early diagnosis and timely treatment, according to the needs of each patient, are essential.

6.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 51(1): [100912], Ene-Mar, 2024. ilus
Artículo en Inglés | IBECS | ID: ibc-229783

RESUMEN

Introduction: Herlyn–Werner–Wünderlich syndrome is a uterine malformation characterized by uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. Clinical findings: The manifestation of the disease is widely diverse; it is usually diagnosed after menarche, with dysmenorrhea and abnormal uterine bleeding; it is also associated with infertility. Main diagnosis: Four clinical cases, their diagnosis are reported here. Therapeutic interventions and results: The treatment and results of these four patients are described here. Conclusion: When studying uterine malformation it is important to consider this rare disease to avoid possible complications and giving the patient a correct diagnose and treatment. The hysteroscopy resection of the longitudinal vaginal septum in those symptomatic patients with hematocolpos should be considered as a good option for treatment.(AU)


Introducción: El síndrome de Herlyn-Werner-Wünderlich es una malformación uterina que asocia útero didelfo, hemivagina obstruida total o parcialmente y agenesia renal ipsilateral. Hallazgos clínicos: La clínica que presenta este síndrome es muy diversa; se suele diagnosticar después de la menarquia cursando con dismenorrea y sangrado uterino anómalo; así mismo se asocia a infertilidad. Diagnósticos principales: Se presentan a continuación 4 casos clínicos, su diagnóstico y tratamiento mediante diversas técnicas. Intervenciones terapéuticas y resultados: Se describen en este manuscrito los tratamientos aplicados a estas pacientes y sus resultados. Conclusión: Ante el hallazgo de una malformación uterina es importante tener en cuenta esta entidad infrecuente, para evitar posibles complicaciones y proporcionar a la paciente un diagnóstico y tratamiento correctos. La resección histeroscópica del tabique vaginal longitudinal en aquellas pacientes sintomáticas con hematocolpos debe ser considerada como una buena opción de tratamiento.(AU)


Asunto(s)
Humanos , Femenino , Adulto Joven , Adulto , Útero/anomalías , Enfermedades de los Genitales Femeninos , Dismenorrea , Riñón Único , Pielonefritis , Ginecología , Obstetricia , Pacientes Internos , Examen Físico
7.
Front Cardiovasc Med ; 11: 1321685, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38380181

RESUMEN

Inferior vena cava atresia is a rare and usually asymptomatic condition. However, when these patients undergo cardiac surgery, it can present an unexpected and challenging situation for the surgeon. Specifically, adequate venous drainage during cardiopulmonary bypass (CPB) is a critical issue here and may require an extension of cannulation strategies. Adequate preoperative diagnostics, ideally with imaging modalities such as CT angiography or MRI, are required for optimal surgical planning. Here, we describe a rare case of thoracic ascending aortic aneurysm with concomitant inferior vena cava atresia that was successfully operated on. With adequate preoperative planning, we were able to perform an operation without unforeseen complications with standard initialization of CPB.

8.
Cureus ; 16(1): e52510, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38371127

RESUMEN

We present a unique case of a 45-year-old male with cerebral palsy, who experienced walking difficulties and altered consciousness. The initial MRI revealed an intraventricular mass that rapidly enlarged over a month, consisting of two distinct components with different characteristics on CT and MRI, and was associated with agenesis of the corpus callosum. Despite initial treatment, surgical intervention was necessary, where preoperative imaging suggested an exophytically growing glioblastoma. However, postsurgical pathological examination identified the mass as pleomorphic xanthoastrocytoma (PXA), World Health Organization (WHO) Classification of Tumours of the Central Nervous System (CNS) grade 3. This study is notable for its rarity and complexity, challenging standard diagnostic approaches. PXA is an uncommon astrocytic tumor, and its occurrence intraventricularly is extremely rare. This study highlights its unique imaging features and the critical role of MRI in preoperative assessment, underlining the tumor's unusual intraventricular location, and its relationship with corpus callosum agenesis. Our comprehensive review of PXA's history and imaging spectrum offers valuable insights for neuroradiologists and neurosurgeons, emphasizing the diagnostic challenges of such rare tumor locations and the importance of meticulous MRI analysis for accurate diagnosis.

9.
Clin Case Rep ; 12(1): e8408, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38173886

RESUMEN

It seems that the association of two connective tissue disorders, including Marfan syndrome and systemic sclerosis, the first is associated with the loosening of the subcutaneous tissue and the second with its tightening, is a very interesting and controversial paradox at the same time and need finding possible genetic etiologies.

10.
Cient. dent. (Ed. impr.) ; 20(3): 161-167, sept.-dic. 2023. ilus
Artículo en Español | IBECS | ID: ibc-EMG-521

RESUMEN

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)


Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)


Asunto(s)
Humanos , Masculino , Adulto , Anodoncia/cirugía , Anodoncia/terapia , Implantes Dentales
11.
Cient. dent. (Ed. impr.) ; 20(3): 161-167, sept.-dic. 2023. ilus
Artículo en Español | IBECS | ID: ibc-229903

RESUMEN

Introducción: Los implantes dentales de circona son una buena opción terapéutica que surge como alternativa a los implantes dentales convencionales de titanio, dadas sus excelentes propiedades de biocompatibilidad, baja acumulación de placa bacteriana y escaso infiltrado inflamatorio. El objetivo del presente caso clínico es describir la colocación de un implante monobloque de circona para reponer un incisivo lateral superior izquierdo en un paciente de 34 años de edad, para la posterior realización de una corona implantosoportada monolítica de circona. Descripción del caso: Se presenta un paciente varón de 34 años de edad, no fumador y sin antecedentes médico-quirúrgicos de interés (ASA I), que acudió a la consulta demandando una mejora en la estética de su sonrisa. El paciente presentaba una agenesia congénita en el incisivo lateral superior izquierdo que había sido tratada previamente con ortodoncia para cerrar dicho espacio. Tras el examen intraoral del paciente y el estudio radiográfico, se plantea la opción de tratamiento de abrir nuevamente el espacio mediante ortodoncia para rehabilitar la ausencia con un implante de circona, asegurando la estética que demandaba el paciente. Conclusiones: La rehabilitación mediante implantes de circona para el tratamiento de agenesias congénitas en incisivos laterales superiores, es una opción válida y efectiva, obteniendo resultados óptimos a nivel estético y funcional. Sin embargo, se necesitan más estudios clínicos con tamaños muestrales suficientes que comparen implantes de titanio y cerámicos con el fin de tener datos más concluyentes. (AU)


Introduction: Zirconia dental implants are a good therapeutic option emerging as an alternative to conventional titanium dental implants, given their excellent properties of biocompatibility, low bacterial plaque accumulation and low inflammatory infiltrate. The aim of the present clinical case is to describe the placement of a zirconia implant to replace an upper left lateral incisor in a 34-year-old patient, for the subsequent restoration of a monolithic implant-supported zirconia crown. Case description: A clinical case of a 34-year-old man is presented, nonsmoker and with no previous registered medical records (ASA I) who came to the dental clinic demanding an improvement in the aesthetics of his smile. The patient had a congenital agenesis of the left lateral incisor that had previously been treated with orthodontics to close the space. After the radiographic study and intraoral examination of the patient, the treatment option of reopening the space with a new phase of corrective orthodontics to rehabilitate the absence with a zirconia implant was proposed, ensuring the aesthetics demanded by the patient. Conclusions: Restoration using zirconia implants for the treatment of congenital agenesis in upper lateral incisors is a valid and effective option, obtaining optimal aesthetic and functional results. However, more clinical studies with sufficient sample sizes comparing titanium and ceramic implants are needed in order to have more conclusive data. (AU)


Asunto(s)
Humanos , Masculino , Adulto , Anodoncia/cirugía , Anodoncia/terapia , Implantes Dentales
12.
Rev. mex. anestesiol ; 46(4): 275-278, oct.-dic. 2023. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1536643

RESUMEN

Resumen: La malposición de los catéteres venosos centrales se asocia a importantes riesgos, a menudo infraestimados. Aunque se han descrito algunos factores que pueden favorecer la malposición, generalmente su causa no llega a diagnosticarse y parece ser de origen multifactorial. Presentamos dos casos de malposición de catéteres venosos centrales motivadas por causas anatómicas inusuales, diagnosticadas en el perioperatorio. En el primer caso, se diagnostica una agenesia de vena cava superior en el transcurso de una sustitución mitral por esternotomía, que lógicamente se asocia con una malposición de la vía central insertada. La utilización de catéteres y dispositivos a través de venas yugulares y subclavias en pacientes con esta infrecuente patología implica importantes limitaciones y complicaciones potenciales graves. En el segundo caso, la existencia de un bocio no diagnosticado provoca la malposición bilateral y simultánea de dos catéteres venosos canalizados, en el contexto de una situación de emergencia, en ambas venas yugulares internas.


Abstract: Malposition of central venous catheters is associated with important and underestimated risks. Although some factors have been related with malposition, its cause is generally not diagnosed, and it seems to have multifactorial origin. We present two cases of central venous catheter malposition due to unusual anatomical causes, diagnosed in the perioperative period. In the first case, superior vena cava agenesis was diagnosed during mitral replacement by sternotomy, which was logically associated with malposition of the inserted central line. The use of catheters and devices through jugular and subclavian veins in patients with this infrequent pathology is associated with important limitations and serious potential complications. In the second case, an undiagnosed goiter causes bilateral and simultaneous malpositioning of two inserted central venous catheters, in the context of an emergency situation, in both internal jugular veins.

13.
Rev. chil. obstet. ginecol. (En línea) ; 88(6): 351-358, dic. 2023. ilus, tab
Artículo en Español | LILACS | ID: biblio-1530033

RESUMEN

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.


Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.


Asunto(s)
Humanos , Masculino , Femenino , Embarazo , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Adulto , Adulto Joven , Quiasma Óptico/diagnóstico por imagen , Tabique Pelúcido/anomalías , Tabique Pelúcido/diagnóstico por imagen , Displasia Septo-Óptica/diagnóstico por imagen , Imagen por Resonancia Magnética , Estudios Retrospectivos , Estudios de Seguimiento , Ultrasonografía Prenatal , Feto
14.
Femina ; 51(12): 687-691, 20231230. ilus
Artículo en Portugués | LILACS | ID: biblio-1532472

RESUMEN

Malformações müllerianas correspondem a variações anatômicas do trato repro- dutor feminino. Comumente assintomáticas, o diagnóstico e a verdadeira incidên- cia são difíceis de determinar. A síndrome de Herlyn-Werner-Wunderlich, clas- sicamente descrita pela tríade útero didelfo, hemivagina cega e agenesia renal ipsilateral também pode ter variações diferentes. Em virtude da mesma origem embrionária dos tratos genital e urinário, anomalias renais devem ser investigadas nesses casos, sendo a mais comum a agenesia renal. Este artigo relata o caso de uma paciente de 18 anos, do sexo feminino, com história de piocolpo por cinco anos. Em propedêutica complementar, foi identificado útero com septação com- pleta associado a hemissepto de terço superior de vagina, formação de piocolpo e agenesia renal à direita. Apesar de não ser a definição clássica, o quadro está incluído nos casos de síndrome de Herlyn-Werner-Wunderlich.


Mullerian malformations correspond to anatomical variations of the female repro- ductive tract. Commonly asymptomatic, the diagnosis and true incidence are difficult to determine. The Herlyn-Werner-Wunderlich syndrome, classically described by the triad: uterus didelphus, blind hemivagina and ipsilateral renal agenesis, can also have different variations. Due to the same embryonic origin of the genital and urinary tracts, renal anomalies must be investigated in these cases, the most common being renal agenesis. This article reports the case of an 18-year-old female patient with a 5-year history of pyocolpus. In complementary exams, a uterus with complete septa- tion was identified, associated with a hemiseptum in the upper third of the vagina, formation of pyocolpus and renal agenesis on the right side. Despite not being the classic definition, it is included in the cases of Herlyn-Werner-Wunderlich syndrome.


Asunto(s)
Humanos , Femenino , Adolescente , Útero/anomalías , Vagina/anomalías , Anomalías Urogenitales/diagnóstico por imagen , Vaginitis/diagnóstico , Didelfo Uterino/diagnóstico por imagen , Hospitales Universitarios , Riñón/anomalías , Conductos Paramesonéfricos/diagnóstico por imagen
15.
Rev. chil. obstet. ginecol. (En línea) ; 88(5): 278-285, oct. 2023. tab, ilus
Artículo en Español | LILACS | ID: biblio-1530025

RESUMEN

Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.


Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.


Asunto(s)
Humanos , Masculino , Femenino , Embarazo , Quistes/diagnóstico por imagen , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Estudios Retrospectivos , Ultrasonografía Prenatal , Síndrome de Aicardi
16.
Cir. plást. ibero-latinoam ; 49(3): 293-300, Juli-Sep. 2023. ilus
Artículo en Español | IBECS | ID: ibc-227163

RESUMEN

Las malformaciones congénitas que incluyen agenesia vaginal requieren tratamiento quirúrgico en la infancia, pero las secuelas deformantes se presentan en edad adulta y son un motivo de consulta al que se debe dar solución.Con este caso pretendemos resaltar la importancia de la integración de técnicas quirúrgicas y complementarias en el tratamiento seguro de las secuelas quirúrgicas invalidantes en pacientes sometidas a reconstrucción vaginal, mostrando los resultados del tratamiento combinado con toxina botulínica y células madre adiposas en una paciente con síndrome de Mayer Rokitansky y estenosis vaginal postquirúrgica.Este tratamiento disminuyó el dolor y la contractura del introito vaginal que permitió la exploración física y la reintegración de la paciente a la vida sexual. Nivel de evidencia científica 4d Terapéutico.(AU)


Congenital malformations that include vaginal agenesis require surgical treatment in childhood, but deforming sequelae present in adulthood constitute a reason for consultation that must be solved.This case is intended to highlight the importance of integrating surgical and complementary techniques in the safe treatment of disabling surgical sequelae in vaginal reconstruction showing the results of the combined treatment with botulinum toxin and adipose stem cells in a patient with Mayer Rokitansky syndrome and post-surgical vaginal stenosis.This treatment decreased the pain and contracture of the vaginal introitus that allowed physical examination and that patient was reintegrated into sexual life.Level of evidence 4d Terapeutic.(AU)


Asunto(s)
Humanos , Femenino , Vagina/cirugía , Anomalías Congénitas , Constricción Patológica , Toxinas Botulínicas Tipo A , Manejo del Dolor , Examen Físico , Vagina/anomalías , Cirugía Plástica
17.
Acta Endocrinol (Buchar) ; 19(1): 112-114, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37601717

RESUMEN

Thyroid isthmus agenesia (TIA) which is characterized by the absence of isthmus is one of these anomalies and its etiology is unclear. Marine Lenhart Syndrome (MLS), on the other hand, is defined as the coexistence of Graves disease and hyperactive nodules,although the diagnostic criteria are not clearly defined. Fifty five years old male patient with no concomitant disease had been diagnosed with MLS and accompanying subclinical hyperthyroidy for two years. He had dysphagia for a year. Neck ultrasound revealead retrosternal goiter with multiple hypoechoic nodules with the largest size of 33x30 mm. He had normal FT3 and FT4 levels with a decreased level of TSH. Scintigraphy revealed diffuse thyroid uptake with a hyperactive nodule of 16x11 mm on right upper lobe. Due to compressive sypmtoms and MLS he underwent surgery and diagnosed with thyroid isthmus agenesia peroperatively. MLS and TIA are rare thyroid pathologies and their etiopathogenesis has not been clarified yet. This case is thought to be the first case in which MLS and TIA coexistence was reported. Even though it is a rare disorder,having a basic knowledge about TIA can be an important step in establishing a treatment plan and avoiding possible complications. Especially in management of MLS, when surgery is considered the physician should be careful for presence of a TIA.

18.
Perinatol. reprod. hum ; 37(2): 80-83, abr.-jun. 2023. tab
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1514615

RESUMEN

Resumen El síndrome de Mayer-Rokitansky-Küster-Hauser (SMRKH) es una anomalía del tracto genital femenino caracterizada por ausencia congénita del útero y porción superior de la vagina. Ocurre en uno de cada 4,500 nacimientos y se diagnostica normalmente durante la adolescencia al presentarse amenorrea primaria. Su función ovárica está preservada, pero la información actual respecto al potencial reproductivo de estas pacientes es limitada. Se presenta el caso de una mujer con diagnóstico de SMRKH sometida a estimulación ovárica para transferencia de embriones a útero subrogado y se discute su potencial reproductivo: técnicas de reproducción asistida, intervenciones e impacto psicológico.


Abstract Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital anomaly of the female genital tract characterized by congenital absence of the uterus and upper part of the vagina. It occurs in 4,500 female births and diagnosis is usually made during adolescence when primary amenorrhea presents. They have functioning ovaries but data regarding their reproductive potential is limited. We hereby report the case of a woman diagnosed with MRKH syndrome in whom assisted reproductive techniques were used to try to achieve pregnancy by gestational surrogacy and their reproductive potential is discussed: assisted reproductive techniques, procedures, and psychological impact.

19.
Pediatr. (Asuncion) ; 50(1)abr. 2023.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1431037

RESUMEN

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.


Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

20.
J Pediatr Adolesc Gynecol ; 36(1): 72-78, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35489472

RESUMEN

BACKGROUND: The surgical treatment of girls with cervical atresia and complete absence of the vagina remains a problem because of the rarity of cases and the controversial study results. OBJECTIVE: To describe the surgical technique and long-term results of laparoscopically assisted uterovestibular anastomosis in patients with cervical atresia and complete absence of the vagina STUDY DESIGN: Sixteen consecutive patients with cervical atresia and complete absence of the vagina were conservatively treated with laparoscopically assisted uterovestibular anastomosis in 2 tertiary care referral centers. The follow-up assessments included clinical examination, determination of the presence and quality of sexual intercourse, and vaginoscopy. RESULTS: All patients underwent laparoscopically assisted uterovestibular anastomosis. No perioperative complications occurred. The mean follow-up period was 8 ± 3.2 years. In all patients, the length of the neovagina was greater than 4 cm at 1 year after the surgery and approximately 6 cm after 2 years. After the start of sexual intercourse, the neovagina exceeded 7 cm in length in 2 of the 11 sexually active patients. At 12 months after the surgery, iodine-positive epithelium was present in all patients and was maintained over time. The continuity of the neovagina, neocervix, and uterine body was maintained without further interventions in 15 of the 16 patients. During the follow-up, 11 patients were sexually active, 5 were married, 4 were seeking conception, and 2 had spontaneous pregnancy. CONCLUSIONS: Laparoscopically assisted uterovestibular anastomosis seems to be a safe and effective treatment for patients with cervical atresia and complete absence of the vagina, at least in terms of the recovery of menstrual function and sexual activity.


Asunto(s)
Cuello del Útero , Laparoscopía , Enfermedades del Cuello del Útero , Vagina , Enfermedades Vaginales , Femenino , Humanos , Anastomosis Quirúrgica/efectos adversos , Anastomosis Quirúrgica/métodos , Cuello del Útero/cirugía , Cuello del Útero/anomalías , Estudios de Seguimiento , Laparoscopía/métodos , Vagina/cirugía , Vagina/anomalías , Enfermedades del Cuello del Útero/congénito , Enfermedades del Cuello del Útero/cirugía , Enfermedades Vaginales/congénito , Enfermedades Vaginales/cirugía
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