Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.

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.

Herlyn–Werner–Wünderlich syndrome: A case series / Síndrome de Herlyn-Werner-Wünderlich: una serie de casos

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)

Case Report: Incidental finding of an atresia of the inferior vena cava-a challenge for cardiac surgery.

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.

Intraventricular Pleomorphic Xanthoastrocytoma: A Case Report and Systemic Review.

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.

Concomitant uterus agenesia and Marfan syndrome with systemic sclerosis: A rare case report.

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.

Retratamiento multidisciplinar de una agenesia de un incisivo lateral superior con un implante cerámico monobloque. A propósito de un caso clínico / Multidisciplinary re-treatment of an agenesis of an upper lateral incisor with an one-piece ceramic implant. A clinical report

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)

Causas anatómicas inusuales de malposición de catéteres venosos centrales / Unusual anatomical causes of malposition of central venous catheters

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.

Resultado a largo plazo de una serie de fetos con agenesia aislada del septum pellucidum / Long-term postnatal outcome of fetuses with isolated agenesis of the septum pellucidum

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.

Retratamiento multidisciplinar de una agenesia de un incisivo lateral superior con un implante cerámico monobloque. A propósito de un caso clínico / Multidisciplinary re-treatment of an agenesis of an upper lateral incisor with an one-piece ceramic implant. A clinical report

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)

Diagnóstico prenatal de quistes interhemisféricos asociados a agenesia del cuerpo calloso / Prenatal diagnosis of callosal agenesis with interhemispheric cyst

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.

Terapia regenerativa en secuela postquirúrgica de neovagina. Caso clínico con síndrome Mayer-Rokitansky / Regenerative therapy applied to post-surgical sequelae of neovagina. Case presentation with Mayer Rokitansky síndrome

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)

MARINE LENHART SYNDROME WITH THYROID ISTHMUS AGENESIA. A NEW SYNDROME?

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.

Estimulación ovárica en síndrome de Mayer-Rokitansky: reporte de caso y revisión de la literatura / Controlled ovarian stimulation in Mayer-Rokitansky syndrome: case report and literature review

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.

Síndrome de Aicardi: revisión bibliográfica

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.

Long-Term Follow-Up after Laparoscopic Uterovestibular Anastomosis in Patients with Cervical Atresia and Complete Absence of the Vagina.

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.

Closure of maxillary lateral incisor agenesis space in unilateral cleft lip and palate: a digital model assessment

ABSTRACT Objective: To compare dental positional and gingival parameters of maxillary anterior teeth in unilateral cleft lip and palate (UCLP) after orthodontic treatment with canine substitution due to lateral incisor agenesis. Methods: This split-mouth study comprised 57 subjects with UCLP (31 male, 26 female) and agenesis of maxillary lateral incisor at the cleft side, from a single center. Canine substitution was completed after the secondary alveolar bone graft. Dental models were taken between 2 to 6 months after debonding (mean age: 20.4 years). The following variables were measured in the maxillary anterior teeth: crown height, width, proportion, and symmetry, as well as steps between incisal edges, gingival margins, tooth mesiodistal angulation and labiolingual inclination. Paired t-tests with Bonferroni post-hoc correction was used for comparisons between cleft and non-cleft sides (p<0.05). Results: At the cleft side, canines replacing missing lateral incisors had a higher crown height (0.77mm) and an increased width (0.67mm), and first premolars showed a shorter crown height (1.39mm). Asymmetries were observed in the gingival level of central and lateral incisors, with a greater clinical crown at the cleft side (0.61 and 0.81mm, respectively). Cleft side central incisors were more upright than their contralaterals (2.12º). Conclusions: Maxillary anterior teeth demonstrated positional, size and gingival height differences between cleft and non-cleft side after space closure of maxillary lateral incisor agenesis. Slight asymmetries in tooth position and gingival margin in the maxillary anterior teeth should be expected after orthodontic treatment in UCLP patients.

RESUMO Objetivo: O presente trabalho teve como objetivo comparar parâmetros dentários posicionais e gengivais de dentes anteriores superiores em pacientes com fissura labiopalatina transforame unilateral (FLPTU) após tratamento ortodôntico com substituição de incisivo lateral ausente por canino, devido a agenesia. Métodos: Esse estudo de boca dividida reuniu uma amostra, de um mesmo centro especializado de tratamento, de 57 indivíduos com FLPTU (31 homens, 26 mulheres) e agenesia do incisivo lateral superior no lado da fissura. A substituição do incisivo lateral por um canino foi concluída após o enxerto ósseo alveolar secundário. Os modelos dentários foram obtidos entre dois e seis meses após a remoção do aparelho (idade média: 20,4 anos). Foram mensuradas nos dentes anteriores as variáveis: altura, largura, proporção e simetria da coroa, bem como as distâncias entre as bordas incisais, margens gengivais, angulação mesiodistal e inclinação vestibulolingual. O teste t pareado com correção post-hoc de Bonferroni foi usado para comparações entre os lados fissurados e não fissurados (p<0,05). Resultados: No lado fissurado, os caninos que substituíram os incisivos laterais ausentes apresentaram uma altura de coroa maior (0,77 mm) e uma largura aumentada (0,67 mm). Os primeiros pré-molares apresentaram uma altura de coroa menor (1,39 mm). Assimetrias foram observadas no nível gengival dos incisivos centrais e laterais, com maior coroa clínica no lado fissurado (0,61 e 0,81mm, respectivamente). Os incisivos centrais do lado fissurado estavam mais intruídos do que os contralaterais (2,12 mm). Conclusão: Os dentes anteriores superiores demonstraram diferenças de posição, tamanho e altura gengival entre os lados fissurado e não fissurado, após o fechamento do espaço da agenesia dos incisivos laterais superiores. Leves assimetrias na posição do dente e margem gengival nos dentes anteriores superiores devem ser esperadas após o tratamento ortodôntico em pacientes com fissura labiopalatina transforame unilateral.

Interdisciplinary treatment to replace missing upper lateral incisors, 4.5 years follow up / Tratamiento interdisciplinario para reposición de incisivos laterales superiores faltantes, seguimiento de 4,5 años

Introduction: Multidisciplinary diagnosis and planning are essential to define the treatment option that will provide the best individual results for patients with congenitally missing upper lateral incisors. Objective: To determine the function and aesthetics after the therapeutic use of osseintegrated implants to replace congenitally missing upper lateral incisors in a young female at 4.5 years follow-up. Case report: The patient was a 13 years old female (at beginning of treatment) with congenitally missing upper lateral incisors condition. Five months after the orthodontic active treatment, the space for placing the implants was achieved. After 2 years of Orthodontic treatment and the evaluation of the craniomandibular growth term by hand radiography, two implants were placed with an expanded bone technique in the position of the upper lateral incisors. After 4 months, osseointegration was clinically confirmed and two screw retained temporary crowns were performed using temporary plastic abutments and acrylic teeth and recalled at 4.5 years to control. Conclusions: Our results showed predictable esthetics and functional results in a patient with congenitally missing upper lateral incisors. This was possible due to a multidisciplinary approach between the diagnosis and treatment performed (Orthodontics, Implantology and Prosthodontics(AU)

Introducción: El diagnóstico y la planificación multidisciplinarios son esenciales para definir la opción de tratamiento que proporcionará los mejores resultados individuales para los pacientes con incisivos laterales superiores que faltan congénitamente. Objetivo: Fue determinar la función y la estética después del uso terapéutico de implantes osteointegrados para reemplazar los incisivos laterales superiores ausentes congénitamente en una mujer joven a los 4,5 años de seguimiento. Presentación del caso: La paciente, mujer de 13 años (al inicio del tratamiento) con una condición congénita de incisivos laterales superiores ausentes. Cinco meses después del tratamiento activo de ortodoncia, se logró el espacio para la colocación de los implantes. Después de 2 años de tratamiento de Ortodoncia y la evaluación del término de crecimiento cráneo-mandibular corroborado mediante radiografía de mano, se colocaron dos implantes con técnica de hueso expandido en la posición de los incisivos laterales superiores. Después de 4 meses, se confirmó clínicamente la osteointegración y se realizaron dos coronas provisionales atornilladas utilizando pilares de plástico provisionales y dientes acrílicos y se controlaron a los 4,5 años de seguimiento. Conclusiones: Nuestros resultados mostraron resultados estéticos y funcionales predecibles en un paciente con incisivos laterales superiores ausentes congénitamente. Esto fue posible gracias a un abordaje multidisciplinar entre el diagnóstico y el tratamiento realizado (Ortodoncia, Implantología y Prostodoncia(AU)

Criteria for early diagnosis of third molar agenesis: a retrospective radiographic study

ABSTRACT Objective: To explore the association between chronological, dental and skeletal ages and early diagnosis of third molars agenesis. Material and Methods: This retrospective radiographic study comprised a sample of 282 Portuguese patients (122 males and 160 females) who sought orthodontic treatment between 2007 and 2018. Each participant had panoramic and lateral cephalometric radiographs performed before and after the age of 14 years. The chronological age was categorized into three intervals between 11.0 and 13.11 years of age. The full eruption of the four-second molars was used as a criterion in determining dental age. Skeletal age was verified by the vertebral maturation method. The diagnosis of agenesis of third molars was initially performed by observation of the initial panoramic radiography undertaken before the age of 14 years. Subsequently, the diagnosis of agenesis of third molars was confirmed by visualizing the second panoramic radiography, obtained after the age of 14 years. The association between the accuracy of the diagnosis and the chronological, dental and skeletal ages was evaluated using the chi-square test, at a 5% significance level. Results: No significant association between chronological age and alterations in the diagnosis of third molar agenesis was identified. However, there was a significant association between third molar agenesis and both dental age (p<0.001) and skeletal age (p=0.006). Conclusion: The eruption of the four-second molars and the peak of growth could be considered as criteria for early diagnosis of third molar agenesis, whereas chronological age is not a reliable diagnostic indicator.

RESUMO Objetivo: Explorar a associação entre as idades cronológica, dentária e esquelética e o diagnóstico precoce da agenesia dos terceiros molares. Material e Métodos: Este estudo radiográfico retrospectivo compreendeu uma amostra de 282 pacientes portugueses (122 homens e 160 mulheres) que procuraram tratamento ortodôntico entre 2007 e 2018. Cada participante tinha radiografias panorâmicas e cefalométricas laterais realizadas antes e depois dos 14 anos de idade. A idade cronológica foi categorizada em três intervalos entre 11,0 e 13,11 anos de idade. A erupção completa dos quatro segundos molares foi usada como critério para determinar a idade dentária. A idade esquelética foi verificada pelo método de maturação das vértebras cervicais. O diagnóstico de agenesia de terceiros molares foi inicialmente realizado pela observação da radiografia panorâmica inicial, realizada antes dos 14 anos de idade. Posteriormente, o diagnóstico de agenesia de terceiros molares foi confirmado pela visualização da segunda radiografia panorâmica, obtida após os 14 anos de idade. A associação entre a acurácia do diagnóstico e as idades cronológica, dentária e esquelética foi avaliada por meio do teste qui-quadrado, com nível de significância de 5%. Resultados: Não foi identificada associação significativa entre idade cronológica e alterações no diagnóstico de agenesia de terceiros molares. No entanto, houve associação significativa entre agenesia de terceiro molar e idade dentária (p<0,001) e idade óssea (p=0,006). Conclusão: A erupção dos quatro segundos molares e o pico de crescimento podem ser considerados critérios para o diagnóstico precoce da agenesia do terceiro molar, enquanto a idade cronológica não é um indicador diagnóstico confiável.

A rare cause of deep vein thrombosis: inferior vena cava agenesis / Agenesia da veia cava inferior: uma causa rara de trombose venosa profunda

Abstract Inferior vena cava agenesis is a rare condition and is often misdiagnosed. This anomaly is asymptomatic in the majority of cases and is usually diagnosed during imaging tests carried out for other purposes. The most frequent manifestation is deep vein thrombosis (DVT) in lower limbs and anticoagulation therapy is the most frequent treatment option. Other techniques such as thrombolysis and venous bypass are also described. We report two cases diagnosed at our institution during the last year, both of which presented with an episode of DVT. We opted for indefinite anticoagulation therapy and both patients remain asymptomatic, after 1 year of surveillance in the first case and 6 months in the second, with no new episodes of DVT. Although it is not a life-threatening anomaly, it is important to make an appropriate diagnosis and provide treatment to improve the symptoms and quality of life of these patients.

Resumo A agenesia da veia cava inferior é uma condição rara e, muitas vezes, mal diagnosticada. Essa anomalia é, na maioria dos casos, assintomática, sendo geralmente diagnosticada durante exames de imagem realizados com outras finalidades. A manifestação mais comum é trombose venosa profunda (TVP) em membros inferiores, e a terapia anticoagulante é a opção de tratamento mais frequente, embora outras técnicas, como trombólise e derivações venosas, também tenham sido descritas. Relatamos dois casos diagnosticados na nossa Instituição no último ano, ambos com episódio de TVP. O tratamento consistiu em anticoagulação por tempo indeterminado e, após 1 ano de acompanhamento no primeiro caso e 6 meses no segundo, ambos os pacientes permanecem assintomáticos, sem novos episódios de TVP. Embora não seja uma anomalia com risco de vida, é importante realizar diagnóstico e tratamento adequados para melhorar os sintomas e a qualidade de vida desses pacientes.

Síndrome de cascanueces y agenesia renal derecha. Una rara asociación

Introducción: El síndrome de cascanueces se considera una anomalía infrecuente y poco pensada en la práctica médica; su incidencia no está bien establecida debido a su sintomatología variada. La agenesia renal unilateral se estima entre 1/2500 y 1/4000 nacidos vivos. Objetivos: Describir una paciente de 18 años con sospecha prenatal de agenesia renal derecha confirmada por imágenes después del nacimiento, que ingresó por proteinuria. Presentación del caso: Paciente de 18 años con agenesia renal derecha conocida, en la que un examen de orina detectó proteinuria desde los 13 años. En su estudio se clasificó como proteinuria ortostática y evolutivamente refirió dolor lumbar izquierdo ligero y transitorio. En el ultrasonido renal, realizado para valorar crecimiento del riñón único, se detectó dilatación de la vena renal izquierda. Se repitió el estudio ecográfico para precisar ángulo aorto-mesentérico y dilatación de vena renal izquierda, y se confirmó el síndrome de cascanueces. Conclusiones: La asociación entre agenesia renal derecha y síndrome de cascanueces, resulta extremadamente rara, y, cuando se presenta con proteinuria ortostática y dolor lumbar ocasional, debe seguirse en forma expectante, pero no se necesita tratamiento quirúrgico en la mayoría de los casos.

Introduction: Nutcracker syndrome is considered an infrequent and poorly thought out anomaly in medical practice; its incidence is not well established due to its varied symptomatology. Unilateral renal agenesis is estimated to be between 1/2500 and 1/4000 live births. Objectives: To describe an 18-year-old female patient with suspected pre-natal imaging-confirmed right renal agenesis after birth, who was admitted due to proteinuria. Case presentation: An 18-year-old female patient with known right renal agenesis, in whom a urine test detected proteinuria from the age of 13. In the study it was classified as orthostatic proteinuria and evolutionarily she referred mild and transient left low back pain. Renal ultrasound, performed to assess single kidney growth, showed dilation of the left renal vein. The ultrasound study was repeated to specify aorto-mesenteric angle and left renal vein dilation, and nutcracker syndrome was confirmed. Conclusions: The association between right renal agenesis and nutcracker syndrome is extremely rare, and, when it presents with orthostatic proteinuria and occasional low back pain, it should be followed expectantly, but surgical treatment is not needed in most cases.