Displasia dentinaria tipo I: Manejo clínico y estudio histológico a propósito de dos casos

La displasia dentinaria tipo I (DD-I) corresponde a una alteración dentinaria de heterogeneidad genética y penetrancia completa, en donde se presenta un defecto en el desarrollo de las raíces de los dientes tanto temporales como definitivos. Clínicamente se observan dientes con extrema movilidad junto con antecedentes de exfoliación prematura o espontánea. Los defectos estructurales de los tejidos dentarios, tales como DD-I; implican un desafío ya que son pocos los casos documentados en la literatura que hablan de esta condición. Además implican un tratamiento multidisciplinario y altamente invasivo. El objetivo de este artículo es presentar dos casos de DD-I, enfatizando en su tratamiento y características histopatológicas.

Dentin Dysplasia Type I (DD-I) consists of a pathological dentinary alteration with genetic heterogeneity that results in a defectuous development of dental roots both in primary and secondary dentition. Clinically we can appreciate teeth with extreme pathological mobility and premature or spontaneous exfoliation. Alterations within normal dental structure, such as DD-I imply a challenge for the common practitioner, because of the scarce number of case reports with in the scientific literature regarding this condition and also, because of the need for a highly invasive and multidisciplinary approach they require. The aim of this article is to present two DD-I cases, emphasizing on their treatment and histopathological features.

Anomalía de Ebstein: a propósito de un caso

La anomalía de Ebstein es una cardiopatía congénita rara y poco frecuente caracterizada por el adosamiento de los velos valvulares tricuspídeos; en la etapa prenatal se estima que su incidencia corresponde a un 3% de todas las cardiopatías diagnosticadas. Se presenta el caso de un feto con diagnóstico de anomalía de Ebstein a quien se le realizó un diagnóstico prenatal adecuado, lo que permitió planificar el nacimiento neonatal con un equipo multidisciplinario integral. Debido a la rareza del diagnóstico prenatal de esta entidad, se describe el caso clínico y los hallazgos imagenológicos representativos.

Ebsteins anomaly is a rare and infrequent congenital heart disease characterized by the attachment of the tricuspid valve leaflets; in the prenatal stage it is estimated that its incidence corresponds to 3% of all diagnosed heart diseases. We present the case of a fetus diagnosed with Ebsteins anomaly who underwent an adequate prenatal diagnosis, which made it possible to plan the neonatal birth with a comprehensive multidisciplinary team. Due to the rarity of the prenatal diagnosis of this entity, the clinical case and the representative imaging findings are described.

Relato de caso: aorta dorsal dupla persistente / Case report: persistent double dorsal aorta

Resumo A aorta dorsal dupla persistente é uma anomalia congênita extremamente rara, com apenas 13 casos publicados até o presente momento. Este estudo tem como objetivo apresentar a variação embriológica observada em aorta abdominal do paciente. A descrição anatômica foi realizada a partir da revisão de prontuário eletrônico e exames de imagem. Desta forma, o presente caso refere-se a um paciente idoso de 79 anos admitido em atendimento hospitalar por queixa de dor em membro inferior esquerdo ao repouso. Foi solicitada a internação do mesmo, assim como exames laboratoriais e de imagem. Obtida como um achado de imagem a partir de angiotomografia, a variação consiste na completa separação em duas porções: uma ventral e outra dorsal, de calibres diferentes, da aorta abdominal, ao nível da terceira vértebra lombar. Isso ocorre em conjunto com a origem anômala da artéria mesentérica inferior.

Abstract Persistent double dorsal aorta is an extremely rare congenital anomaly, with only 13 cases published to date. The objective of this study is to present this embryological variant as observed in the abdominal aorta of a patient. The anatomical description was written up on the basis of a review of electronic medical records and imaging exams. The patient in this case was an elderly 79-year-old man who presented at emergency with pain at rest in the left lower limb. He was admitted and laboratory tests and imaging exams were ordered. The variation was an imaging finding observed on angiotomography, consisting of complete separation of the abdominal aorta into two portions - a ventral and a dorsal, with different calibers - at the level of the third lumbar vertebra. There was also an anomalous origin of the inferior mesenteric artery.

Técnica de Puckett en el tratamiento de mamas tuberosas con lipotransferencia complementaria / The Puckett Technique for Treating Tuberous Breasts with Complementary Lipotransfer

Introducción: La mama tuberosa es una anomalía congénita de la mama que se presenta en la pubertad y es relativamente frecuente. Objetivo: El objetivo de este artículo es dar a conocer el resultado estético del tratamiento quirúrgico de esta afección con la técnica de Pukett sin incluir el implante mamario, con lipotransferencia complementaria. Presentación del caso: Se presenta una paciente femenina, de 25 años de edad, con mama tuberosa grado 4. Se le realiza corrección con técnica de Pukett sin implantes mamarios y en su lugar se usa grasa autóloga. Luego de corregir las anomalías que conforman esta malformación se obtuvo una mama armoniosa sin complicaciones. Conclusión: La técnica de Pukett combinada con lipotransferencia ofrece resultados estéticos y estables en el tratamiento de la mama tuberosa(AU)

Introduction: Tuberous breast is a congenital breast anomaly that presents at puberty and is relatively frequent. Objective: The aim of this article is to report the aesthetic outcome after treating this condition surgically using the Puckett technique without breast implant, with complementary lipotransfer instead. Case presentation: The is presented of a 25-year-old female patient with grade-4 tuberous breast. She is performed a correction using the Puckett technique without breast implants; autologous fat is used instead. After correcting the anomalies that make up this malformation, a harmonious breast was obtained without complications. Conclusion: The Puckett technique combined with lipotransfer offers aesthetic and stable outcomes in the treatment of tuberous breast(AU)

Síndrome Klippel-Trenaunay en el embarazo. Reporte de un caso y revisión de la literatura / Klippel-Trenaunay syndrome in pregnancy. Case report and literature review

Resumen Antecedes: El síndrome de Klippel-Trenaunay (KTS) es un síndrome de malformación vascular que comprende una afectación variable de capilares cutáneos, venas y linfáticos con hipertrofia de tejidos blandos y huesos de la extremidad afectada. Durante el embarazo estas malformaciones se incrementan, con afectación pélvica e intraabdominal. Caso clínico: Paciente de 15 años, primigesta, con síndrome Klippel-Trenaunay diagnosticado al nacimiento, con embarazo a término, referida por iniciar con trabajo de parto para finalización del embarazo en un hospital de tercer nivel. No cuenta con control obstétrico, estudios prenatales ni ultrasonidos obstétricos. Se realiza una ecografía pélvica en donde se descartóla presencia de varices pélvicas y un doppler que evidenció un sistema venoso conservado. Se realiza terminación del embarazo vía abdominal obteniendo un recién nacido vivo masculino, peso de 3045 gramos, APGAR 9 y 9 al minuto y a los 5 minutos. Resultados: El embarazo en pacientes con síndrome de Klippel-Trenaunay tiene alto riesgo de tromboembolismo y complicaciones hemorrágicas. La valoración debe ser por un equipo multidisciplinario capacitado para anticiparse a las potenciales complicaciones. Limitaciones del estudio o implicaciones: La principal limitación es la baja incidencia de esta patología. Se puede concluir que el diagnostico de SKT no es indicación de interrupción del embarazo. El éxito del manejo de estas pacientes requiere la participación de un equipo multidisciplinario. Originalidad o valor: Este caso clínico es de primordial relevancia ya que en la bibliografía internacional están reportados menos de 100 casos de embarazos complicados con este síndrome.

Abstract: Background: Klippel-Trenaunay syndrome (KTS) Klippel- Trenaunay syndrome (KTS) is a vascular malformation síndrome that includes variable involvement of skin capillaries, veins and lymphatics with hypertrophy of soft tissues and bones of the affected limb. During pregnancy, these malformations increase, with pelvic and intra-abdominal involvement. Clinical case: 15-year-old patient, gravida 0, with Klippel- Trenaunay syndrome diagnosed at birth, with full-term pregnancy, referred for initiating labor for resolution of pregnancy in a third level hospital. Without obstetric control, without prenatal studies or obstetric ultrasounds. A pelvic ultrasound was performed, which ruled out the presence of pelvic varices and a Doppler that showed a preserved venous system. The pregnancy was terminated by abdominal route, obtaining a male newborn, weighting 3045 grams, APGAR 9 and 9 after 1 and 5 minutes. Results: Pregnancy in patients with Klippel-Trenaunay síndrome has a high risk of thromboembolism and bleeding complications. They should be evaluated by a trained multidisciplinary team to anticipate possible complications. Study limitations or implications: The main limitation is the low incidence of this pathology. It can be concluded thatthe diagnosis of SKT is not an indication for termination of pregnancy. Successful management of these patients requires the participation of a multidisciplinary team. Originality or value: This clinical case is of primary relevance since fewer than 100 cases of complicated pregnancies with this syndrome are reported in the international literature.

Radix em molares decíduos inferiores: revisão sistemática com metanálise / Radix in lower primary molars: systematic review with meta-analysis

Objective: To estimate the prevalence of three roots in deciduous mandibular molars. Methodology: Electronic searches were carried out in PubMed and Scopus to identify cross-sectional studies published up to September 2023. The Joanna Briggs Institute tool was used to critically appraise the studies. STATA 16.0 was used to generate risk of bias figures and perform the meta-analysis. Results: Eighteen studies evaluating 9,067 patients (8,969 first molars and 10,765 second molars) were included in this review. The overall prevalence of radix in mandibular deciduous molars was 9.61% (3.67% for first molars and 18.72% for second molars). The prevalence rate of teeth diagnosed using Cone Beam Computed Tomography (CBCT) was similar to the diagnoses made using conventional radiographic techniques together (periapical, interproximal and panoramic). Final considerations: Lower deciduous molars with three roots have a prevalence of almost 10%, with a higher prevalence in second molars. The diagnosis of this morphological alteration can be made using conventional radiographic techniques, but the use of CBCT is recommended.(AU)

Objetivo: estimar a prevalência de três raízes em molares inferiores decíduos. Metodologia: foram realizadas buscas eletrônicas na PubMed e Scopus para identificar estudos transversais publicados até setembro/2023. Para a avaliação crítica dos estudos foi utilizada a ferramenta do Instituto Joanna Briggs. STATA 16.0 foi usado para gerar figura do risco de viés e realizar a metanálise. Resultados: dezoito estudos que avaliaram 9.067 pacientes (8.969 primeiros molares e 10.765 segundos molares) foram incluídos nesta revisão. A prevalência global de radix em molares decíduos inferiores foi de 9,61% (3,67% para primeiros molares e 18,72% para segundo molares). A taxa de prevalência de dentes com diagnóstico através de Tomografia Computadorizada Cone Beam (TCCB) foi semelhante aos diagnósticos realizados pelas técnicas radiográficas convencionais em conjunto (periapical, interproximal e panorâmica). Considerações finais: os molares decíduos inferiores com três raízes têm uma prevalência de quase 10%, com maior prevalência em segundo molares. O diagnóstico desta alteração morfológica pode ser feito através das técnicas radiográficas convencionais, porém recomenda-se a utilização de TCCB.(AU)

Un caso de leucismo en el Juil de Jamapa, Rhamdia laticauda (Siluriformes, Heptapteridae) en el noreste del estado de Oaxaca, México

Se reporta la primera observación de un espécimen leucístico en el Juil de Jamapa, Rhamdia laticauda en el noreste del estado de Oaxaca. En un estudio ictiológico de la Reserva de la Biosfera Tehuacán-Cuicatlán en el río Xiquila de la cuenca alta del río Papaloapan, el pez se capturó con pesca eléctrica y se fotografió. El bagre vivo mostró una reducción de pigmentos en la piel, manchas blancas y ojos negros normales. Esto contribuye al conocimiento de la variabilidad intraespecífica y la historia natural de R. laticauda. Se discuten las causas potenciales de esta anomalía de color.

Here, we report the first observation of a leucistic specimen in the Rock catfish, Rhamdia laticauda in the Northeast of Oaxaca, Mexico. We caught the specimen by electric fishing and then photographed during an ichthyological survey carried out in the Tehuacán-Cuicatlán Biosphere Reserve in the Xiquila River of the upper Papaloapan River basin. The live catfish showed a lack of pigment in the skin, white spots, and normal eye color. This information contributes to the knowledge about intraspecific variability and natural history of R. laticauda. We discuss the potential causes of this color anomaly.

An atypical presentation of talon cusp: Double talon cusps

Talon cusp is an uncommon developmental anomaly resulting in an extra cusp or cuspal projection on an anterior tooth consisting of normal enamel, dentin, and varying degrees of pulp tissue. Talon cusp shows varied presentations of which the palatal talon cusp has been the most common of all. The management requires an extensive understanding of this clinical entity and the complications associated with its occurrence. In this case series, we are reporting double talon cusps which is a rarity itself, involving the palatal aspect of maxillary central incisors

Mullerian Anomaly with Large Ovarian Mass — Where Two Worlds Collide

When young women diagnosed with Large Ovarian Masses present with associated mullerian abnormality it shakes the world of Gynaecology and requires the joint help of General Gynaecologists and gynae-oncologists as reconstruction of Mullerian anomaly and fertility preservation is as important as management of Malignant Ovarian Masses. We report a case of 21 year, unmarried woman with complaints of primary amenorrhea and large abdominopelvic mass and short, blind vagina. Magnetic Resonance Imaging showed Uterus Didelphis with normal endometrium and upper vaginal agenesis. Computed Tomography images revealed a large ovarian mass. Intraoperatively there was a 30cm large Ovarian Tumour, Didelphyic and hypoplastic (2cm) uterus and 2 cm blind vagina. Management of this case involved extensive discussion among the Gynecologists, Gynae-oncologist and radiologists. In non-oncology setup where the rate of surgeries are high, option between frozen section and Mullerian reconstruction are required especially when the Ovarian mass looks benign as both surgeries require time and expertise. Hence, involvement of patient and family members in decision making form an integral part of management.Intraoperative findings also influence surgical decisions in Mullerian anomaly

Application of phantom for dose measurement in interventional therapy for pediatric vascular anomalies / 中国辐射卫生

@#<b>Objective</b> To apply a phantom for dose measurement in interventional therapy for pediatric vascular diseases, and calculate the effective dose (<i>E</i>) and conversion coefficient of dose area product (DAP) to <i>E</i>, and to provide a dose reference for studying radiation dose and radiation protection in children. <b>Methods</b> Thermoluminescent dosimeters were placed in the organs of the phantom. Low-, medium-, and high-dose groups were set for three types of vascular anomalies based on the duration of fluoroscopy. Digital subtraction angiography was used to simulate exposure conditions at different dose levels. The organ dose was measured, and the effective dose was calculated. <b>Results</b> For the three groups of vascular anomalies in the head and face, the red bone marrow doses were 8.15, 30.34, and 43.53 mGy, respectively, the effective doses were 12.88, 47.84, and 73.12 mSv, respectively; and the average conversion coefficient of DAP to <i>E</i> was 2.16. For the three groups of vascular anomalies in the trunk, the red bone marrow doses were 2.11, 15.62, and 31.21 mGy, respectively; the effective doses were 12.39, 70.56, and 134.60 mSv, respectively, and the average conversion coefficient of DAP to <i>E</i> was 3.03. For the three groups of vascular anomalies in the lower extremities, the red bone marrow doses were 3.58, 6.50, and 12.28 mGy, respectively, the effective doses were 3.64, 7.04, and 14.85 mSv, respectively, and the average conversion coefficient of DAP to <i>E</i> was 0.73. <b>Conclusion</b> Patient dose and DAP-to-<i>E</i> conversion coefficient are in the following order: vascular anomalies in the trunk > vascular anomalies in the head and face > vascular anomalies in the lower extremities. The dose data obtained can be used to estimate children’s radiation exposure.

Atypical pompholyx presentation of secondary Staphyloccoccus and Klebsiella infections in a patient with premorbid Ebstein anomaly: A case report

Rationale: Pompholyx refers to pruritic vesicles or bullous rash that mainly distribute on the palms and lateral surfaces of the fingers. It is less common among Asians, and in a severe condition, secondary bacterial infection of pompholyx can happen and result in pain, swelling and pustules. Patient concerns: A 15-year-old girl complained of progressive wound and small bumps containing yellowish pus and crusts on her hands and feet for over 6 months and worsened in the last month before admission. She also had Ebstein anomaly. Diagnosis: Atypical pompholyx with secondary Staphylococcus and Klebsiella infections. Interventions: Wound care with wet dressing and applying moisturizer on crusts, application of antibiotics for Gram positive and negative bacteria and giving nutritional support with reckoning of proper calories. Outcomes: Skin lesions were completely healed and the patient was discharged after 10 days of hospitalization. Lessons: Atypical manifestation of pompholyx makes it hard to diagnose. The diagnosis can be confirmed with meticulous history-taking and physical examination. Wound caring and controlling of the infection should be done to earn an optimal outcome.

Artéria subclávia direita aberrante: relato de caso e revisão de literatura / Aberrant right subclavian artery: case report and literature review

Resumo A artéria subclávia direita aberrante, também conhecida como artéria lusória, é a anomalia do arco aórtico mais comum, ocorrendo entre 0,5 e 1% da população. Possui prevalência em mulheres e normalmente está associada a outras variações anatômicas, como o nervo laríngeo não recorrente, presente em 86,7% dos casos. Em sua maioria, a artéria subclávia direita aberrante não apresenta sintomas. Descrevemos essa alteração em uma paciente de 82 anos, hipertensa e assintomática, que havia sido submetida a uma angiotomografia toracoabdominal para a avaliação de uma dissecção crônica tipo III (DeBakey) associada à dilatação de aorta descendente. No achado, a artéria subclávia direita aberrante apresentava percurso retroesofágico associado a um divertículo de Kommerell. Devido à raridade, realizamos revisão bibliográfica integrativa das bases de dados MEDLINE, UpToDate, LILACS, SciELO e Portal CAPES dos últimos 6 anos e discutimos as alterações anatômicas mais frequentes, a sintomatologia e as condutas terapêuticas adotadas.

Abstract The aberrant right subclavian artery, also known as the arteria lusoria, is the most common aortic arch anomaly, occurring in 0.5 to 1% of the population. There is a higher prevalence in women and it is usually associated with other anatomical variations, such as the non-recurrent laryngeal nerve, present in 86.7% of cases. In the majority of cases, the aberrant right subclavian artery causes no symptoms. We describe this anomaly in an 82-year-old, hypertensive, and asymptomatic patient who had undergone a thoracoabdominal angiography to investigate a chronic DeBakey type III aortic dissection with dilation of the descending aorta. The aberrant right subclavian artery followed a retroesophageal course and was associated with a Kommerell diverticulum. In view of its rarity, we conducted an integrative bibliographic review of literature from the last 6 years indexed on the Medline, UpToDate, Lilacs, Scielo, and Portal Capes databases and discuss the most frequent anatomical changes, symptomatology, and therapeutic management adopted.

Tratamiento quirúrgico inmediato en niños con perforación espontánea de la vía biliar. Experiencias de 16 años

Introducción: La perforación espontánea de los conductos biliares es una rara enfermedad caracterizada por una disrupción no traumática de la vía biliar en pacientes aparentemente sanos. Se trata de una grave situación potencialmente letal, pero diagnosticada y tratada correctamente tiene un pronóstico excelente. Objetivo: Caracterizar los principales elementos clínico-quirúrgicos expresados en una serie de 5 pacientes operados en un servicio de referencia nacional. Presentación de casos: Se presenta la experiencia con una serie de casos en 16 años en una sola institución. La afección se observó en niñas recién nacidas y lactantes con una edad media de 4 meses, y se presentó desde la clínica como una colestasis acompañada de distensión abdominal, ascitis biliar, acolia, y signos de irritación peritoneal. El 80 % de los casos se intervinieron en el hospital "William Soler", y en un caso se ejecutó el procedimiento después de una laparotomía por una posible apendicitis aguda, en otro hospital. El diagnóstico se basó en el cuadro clínico descrito, la ecografía abdominal, la paracentesis con medición del índice bilirrubina líquido ascítico/bilirrubina sérica, y la colangiografía intraoperatoria. La cirugía definitiva se realizó inmediatamente, y consistió en: lavado peritoneal, colangiografía diagnóstica, reparación hepaticoyeyunostomía en Y de Roux y colocación de drenaje. Conclusiones: El tratamiento realizado resulta eficaz y seguro en todos los casos, con una excelente evolución, sin complicaciones importantes y con una total supervivencia posoperatoria. La colangiografía intraoperatoria permitió identificar el sitio de la perforación y diagnosticar malformaciones asociadas como dilataciones biliares congénitas y anomalías de la unión bilio-pancreática.

Introduction: Spontaneous bile duct perforation is a rare condition characterized by non-traumatic disruption of the bile duct in apparently healthy patients. It is a serious potentially lethal situation, but correctly diagnosed and treated its prognosis is excellent. Objetive: To characterize the main clinical-surgical elements expressed in a series of 5 patients operated in a national referral service. Case presentation: The experience with a series of cases during a period of 16 years in a single institution is presented. The condition was observed mainly in newborn girls and infants with an average age of 4 months, and presented clinically as cholestasis accompanied by abdominal distension, biliary ascites, acholia, and signs of peritoneal irritation. 80% of the cases were operated primarily in the "William Soler" hospital, and in one case the procedure was performed after a laparotomy for a possible acute appendicitis, in another hospital. The diagnosis was based on the clinical picture described, abdominal ultrasound, paracentesis with measurement of the ascitic liquid bilirubin/serum bilirubin index, and intraoperative cholangiography. Definitive surgery was performed immediately and consisted of: peritoneal lavage, diagnostic cholangiography, Roux-en-Y liver and jejunostomy repair and drainage placement. Conclusions: The treatment performed was effective and safe in all cases, with an excellent evolution, no major complications and total postoperative survival. Intraoperative cholangiography made it possible to identify the site of perforation and to diagnose associated malformations such as congenital biliary dilatations and anomalies of the biliary-pancreatic junction.

Ectopic thymic tissue in subglottis of children: evaluation and management

Abstract Objectives: Ectopic thymic tissue in the subglottis is an extremely rare disease that causes airway obstruction. Few cases reported were accurately diagnosed before surgery. Methods: A case of a 2-year-old boy with airway obstruction caused by a left subglottic mass was reported. The presentation of radiological imaging, direct laryngoscopy and bronchoscopy, pathology, and surgical management were reviewed. An extensive search in PubMed, EMBASE, Web of Science, Google Scholar, and EBSCO of English literature was performed without a limit of time. Results: Besides our case, only six cases were reported since 1987. The definitive diagnosis on these patients were made with the findings of pathology, of which, five were ectopic thymus and two were ectopic thymic cysts. Our case was the only one with a correct suspicion preoper-atively. Four cases underwent open surgical resection, and two cases underwent microlaryngeal surgery, while one deceased after emergency tracheostomy. No recurrences were found by six patients during the follow-up after successful treatments. Conclusion: Ectopic thymus is a rare condition, infrequently considered in the differential diagnosis of subglottic masses. Modified laryngofissure may be an effective approach to removing the subglottic ectopic thymus and reconstructing the intact subglottic mucosa.

Fetal echocardiography audit in a tertiary hospital in Ibadan, Nigeria

Delayed detection of congenital heart diseases in low- and middle-income countries (LMICs) contributes to the poor outcome of infants with cardiac anomalies. Fetal echocardiography (FE) can detect heart defects in-utero as early as the 18th gestational week (GA), giving parents and medical professionals time to prepare for the baby's delivery and appropriate treatment. University College Hospital, Nigeria, is one of the few centres in Nigeria where FE is performed. Objectives: To examine the indications for referral for FE and the diagnoses made in our first four years of performing FE. Methods: FE was performed in the antenatal clinic of the University College Hospital, Ibadan, Nigeria, using the GE Voluson P6 machine with a 2-6-RS probe. Demographic information was obtained from the antenatal clinic records of the women who had FE using a semi-structured questionnaire. FE diagnoses were retrieved from the FE register. Results: A total of 129 women whose records were available were studied. The mean age of the women was 31.7±5.5 years. Forty-two women (32.6%) were referred because of echogenic foci, making this the most common indication for FE. Twenty-nine (22.5%) fetuses had structural heart defects, the most common being Ventricular Septal Defect. Conclusion: There is a need for Obstetricians and Paediatricians to be aware of the indications for fetal echocardiography and refer women appropriately

Genetics in prenatal diagnosis

The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed decisions about their pregnancy. As genetic testing becomes increasingly available to women, clinician knowledge and awareness of the options available to women is of great importance. Additionally, comprehensive pretest and posttest genetic counselling about the advantages, pitfalls and limitations of genetic testing should be provided to all women. This review article aims to cover the range of genetic tests currently available in prenatal screening and diagnosis, their current applications and limitations in clinical practice as well as what the future holds for prenatal genetics.

Double the trouble: A case report on uterine didelphys with unilateral cervical atresia / Philippine Journal of Obstetrics and Gynecology

@#Genetic errors and teratogenic events during embryonic development can lead to congenital abnormalities of the female reproductive tract. Many patients are asymptomatic, while some have major abnormalities that can cause severe impairment of menstrual and reproductive functions. This case report focuses on Müllerian anomaly Class III, uterine didelphys, along with obstructed hemivagina and ipsilateral renal agenesis (the Herlyn–Werner–Wunderlich syndrome [HWWs]). The patient presented with cyclic pelvic pain due to the hematometra and hematocolpos. She initially underwent resection of the vaginal septum but had a recurrence of obstructive symptoms more than a year after vaginal surgery was performed. This prompted further evaluation with magnetic resonance imaging revealing cystic dilatation of the right uterine horn and a hypoplastic right vagina appearing to end blindly. The patient subsequently underwent hemihysterectomy. The right hemiuterus was noted to have a depression on its thickened inferior aspect, but no cervix was identified. This case is a variant of the classic HWWS, as there was cervical atresia on the right uterine corpus. A thorough preoperative evaluation and accurate intraoperative assessment of patients with Müllerian anomalies can decrease misdiagnoses, guide appropriate intervention, and decrease the risk of future reproductive complications.

The effect of LeCompte maneuver on mid-to-long term reintervention after arterial switch operation in children with side-by-side Taussig-Bing anomaly / 中国胸心血管外科临床杂志

@#Objective    To explore the effect of LeCompte maneuver on in-hospital mortality and mid-to-long term reintervention after single-stage arterial switch operation in children with side-by-side Taussig-Bing anomaly. Methods     Clinical data of patients diagnosed with side-by-side Taussig-Bing anomaly and undergoing single-stage arterial switch operation in Shanghai Children’s Medical Center from 2006 to 2017 were retrospectively analyzed. Patients were divided into two groups based on whether LeCompte maneuver was performed: a LeCompte maneuver group and a non LeCompte maneuver group. The clinical data of two groups were compared. Results    Finally 92 patients were collected. LeCompte maneuver was performed in 32 out of 92 patients with a median age of 65.0 days and an average weight of 4.3 kg, among whom 24 (75.0%) were male. Fifteen (46.9%) patients received concomitant aortic arch repair while 12 (37.5%) patients were associated with coronary artery malformation. LeCompte maneuver was not performed in 60 patients with a median age of 81.0 days and an average weight of 4.8 kg, among whom 45 (75.0%) were male. Twenty-two (36.7%) patients received concomitant aortic arch repair while 35 (58.3%) patients were associated with coronary artery malformation. The average cardiopulmonary bypass duration of the LeCompte maneuver group showed no statistical difference from the non LeCompte maneuver group (179.0±60.0 min vs. 203.0±74.0 min, P=0.093). The in-hospital mortality of the two groups were 6 (18.8%) and 7 (11.7%), respectively, which also showed no statistical difference (P=0.364). The median follow-up period was 4.1 (1.6, 7.5) years for 79 patients with 8 lost to follow-up, and no death was observed. Kaplan-Meier curve and log-rank test showed no statistical difference in overall mid-to-long term reintervention rate (P=0.850) as well as right ventricular outflow tract and pulmonary artery reintervention rate (P=0.240) with or without LeCompte maneuver. Conclusion    Whether or not to perform LeCompte maneuver shows no statistical impact on in-hospital mortality and mid-to-long term reintervention rate of single-stage arterial switch operation for side-by-side Taussig-Bing anomaly.