Congenital malformations of the posterior fossa: a review of clinical and radiological features through an Illustrated guide / Malformações congênitas da fossa posterior: uma revisão das características clínicas e radiológicas por meio de um guia ilustrado

Congenital malformations of the posterior fossa (PF) encompass a wide spectrum of morphological anomalies that arise during embryonic development. This paper provides a narrative review of these most common disorders from a morphological approach based on the division into cystic (Dandy-Walker malformation, Blake's Pouch cyst, mega cisterna magna, arachnoid cyst, and cerebellar vermis hypoplasia) and non-cystic malformations (Joubert syndrome, rhomboencephalosynapsis, and pontocerebellar hypoplasia). The embryogenesis of PF structures is briefly outlined. While magnetic resonance imaging is the preferred modality for evaluation, computerized tomography and ultrasonography serve complementary roles. In conjunction with clinical aspects, specific radiological features, such as cerebellar vermis morphology, Torcular Herophili position, and the presence/absence of mass effect, are highlighted for accurate diagnosis. We also present some typical radiological findings in non-cystic malformations, such as molar tooth sign, diamondshaped fourth ventricle, and dragonfly-shaped cerebellum. This comprehensive review aims to assist radiologists, neuropediatricians, and general neurologists in recognizing and describing PF malformations, thereby facilitating appropriate management strategies.

As malformações congênitas da fossa posterior (FP) abrangem um amplo espectro de anomalias morfológicas que surgem durante o desenvolvimento embrionário. Este artigo fornece uma revisão narrativa desses distúrbios mais comuns a partir de uma abordagem morfológica baseada na divisão em malformações císticas (malformação de Dandy-Walker, cisto da bolsa de Blake, mega cisterna magna, cisto aracnoide e hipoplasia do vermis cerebelar) e não císticas (syndrome de Joubert, rombencefalossinapse e hipoplasia pontocerebelar). A embriogênese das estruturas da FP é brevemente descrita. Embora a ressonância magnética seja a modalidade preferida para avaliação, a tomografia computadorizada e a ultrassonografia desempenham funções complementares. Em conjunto com os aspectos clínicos, características radiológicas específicas, como a morfologia do vermis cerebelar, a posição da torcula Herophili e a presença/ausência de efeito de massa, são destacadas para um diagnóstico preciso. Apresentamos também alguns achados radiológicos típicos de malformações não císticas, como sinal do dente molar, quarto ventrículo em forma de diamante e cerebelo em forma de libélula. Esta revisão abrangente visa auxiliar radiologistas, neuropediatras e neurologistas gerais no reconhecimento e na descrição das malformações da FP, facilitando, assim, estratégias de manejo adequadas.

Compressive Structures of the Median Nerve at the Elbow / Estructuras Compresivas del Nervio Mediano en el Codo

SUMMARY: The objective of this study was to analyze the potential for compression of the median nerve (MN) caused by the bicipital aponeurosis (BA), the humeral and ulnar heads of the pronator teres muscle (PTM) and the arcade of the flexor digitorum superficialis muscle (FDS) in recently deceased cadavers. In this analysis 20 forearms of 10 recently deceased adult male cadavers were dissected. Dissections were performed in the institution's autopsy room or anatomy laboratory. The short and long heads of the biceps brachii muscle, as well as the BA were identified in all upper upper limbs. The BA received contribution from the short and long heads of the biceps brachii muscle. In 12 upper limbs the BA was wide and thickened and in 8 it was supported by the MN. In 5 upper limbs, the BA was wide but not very thick, and in 3 it was narrow and not very thick. We identified the existence of the FDS muscle arcade in all dissected upper limbs. A fibrous arcade was identified in 4 forearms, a muscular arcade in 14 and a transparent arcade in 2 upper limbs. In all of them, we recorded that the arcade was in contact with the MN. We recorded the humeral and ulnar heads of the PTM in all dissected upper limbs, with the presence of fibrous beams between them along their entire length. The MN was positioned between the humeral and ulnar heads of the PTM in all upper limbs. In eight upper limbs (40 %), we identified that the BA had thickness and contact with the MN with the potential to cause its compression. Compression between the humeral and ulnar heads of the PTM by the fibrous connections has the potential to cause nerve compression in all upper limbs (100 %). We did not identify that the anatomical structure of the FDS arcade had the potential to cause compression in the MN.

El objetivo de este estudio fue analizar la potencial compresión del nervio mediano (NM) causado por la aponeurosis bicipital (AB), las cabezas humeral y cubital del músculo pronador redondo (MPR) y la arcada del músculo flexor superficial de los dedos (MFS). En este análisis se diseccionaron 20 antebrazos de 10 cadáveres masculinos de individuos adultos fallecidos recientemente. Las disecciones se realizaron en la sala de autopsias o en el laboratorio de anatomía de la Institución. En todos los miembros superiores se identificaron las cabezas corta y larga del músculo bíceps braquial, así como la AB. La AB recibió contribución de las cabezas corta y larga del músculo bíceps braquial. En 12 miembros superiores la AB era ancha y engrosada y en 8 estaba sostenida por el NM. En 5 miembros superiores la AB era ancha pero poco gruesa, y en 3 era estrecha y de menor grosor. Identificamos la existencia de la arcada muscular MFS en todos los miembros superiores disecados. Se identificó una arcada fibrosa en 4 antebrazos, una arcada muscular en 14 y una arcada delgada y transparente en 2 miembros superiores. En todos ellos registramos que la arcada estaba en contacto con el NM. Registramos las cabezas humeral y cubital del MPR en todos los miembros superiores disecados, con presencia de haces fibrosos entre ellas en toda su longitud. El NM estaba situado entre las cabezas humeral y cubital del MPR en todos los miembros superiores. En ocho miembros superiores (40 %), identificamos que la AB era gruesa y tenía contacto con el NM con potencial para causar su compresión. La compresión entre las cabezas humeral y ulnar del MPR, por las conexiones fibrosas, tiene el potencial de causar compresión nerviosa en todos los miembros superiores (100 %). No identificamos que la estructura anatómica de la arcada MFS tuviera el potencial de causar compresión del NM.

A prediction model for coronary artery abnormalities in children with Kawasaki disease older than 5 years

Abstract Objective: Reliably prediction models for coronary artery abnormalities (CAA) in children aged > 5 years with Kawasaki disease (KD) are still lacking. This study aimed to develop a nomogram model for predicting CAA at 4 to 8 weeks of illness in children with KD older than 5 years. Methods: A total of 644 eligible children were randomly assigned to a training cohort (n = 450) and a validation cohort (n = 194). The least absolute shrinkage and selection operator (LASSO) analysis was used for optimal predictors selection, and multivariate logistic regression was used to develop a nomogram model based on the selected predictors. Area under the receiver operating characteristic curve (AUC), calibration curves, Hosmer-Lemeshow test, Brier score, and decision curve analysis (DCA) were used to assess model performance. Results: Neutrophil to lymphocyte ratio, intravenous immunoglobulin resistance, and maximum baseline z-score ≥ 2.5 were identified by LASSO as significant predictors. The model incorporating these variables showed good discrimination and calibration capacities in both training and validation cohorts. The AUC of the training cohort and validation cohort were 0.854 and 0.850, respectively. The DCA confirmed the clinical usefulness of the nomogram model. Conclusions: A novel nomogram model was established to accurately assess the risk of CAA at 4-8 weeks of onset among KD children older than 5 years, which may aid clinical decisionmaking.

Incidência de complicações durante os anos iniciais de formação de um serviço de fissuras labiopalatinas / Incidence of complications during the initial years of formation of a cleft lip and palate service

Introdução: A fissura labiopalatina é a malformação congênita craniofacial mais comum. Dificuldades na alimentação, fala e audição são comuns nestes pacientes, necessitando de tratamento multidisciplinar, o que dificulta a criação e manutenção de serviços especializados. A diversidade de classificações e o grande número de técnicas cirúrgicas utilizadas nas cirurgias primárias (queiloplastia e palatoplastia) dificultam a comparação de dados epidemiológicos e de complicações entre os serviços, existindo carência de estudos avaliando centros especializados em fissuras labiopalatinas recém-criados. Método: Foi realizado estudo do tipo coorte prospectiva com pacientes com diagnóstico de fissura labiopalatina submetidos a procedimentos cirúrgicos primários, no Hospital de Clínicas da Universidade Federal de Uberlândia, entre julho de 2017 e fevereiro de 2023. Foram incluídos pacientes menores de 18 anos com acompanhamento pós-operatório de pelo menos 3 meses. Resultados: Participaram do estudo 79 pacientes, que foram submetidos a 115 cirurgias primárias (54 queiloplastias e 61 palatoplastias). Foram relatadas 11 complicações neste período: 2 deiscências em queiloplastia (3,70%), 1 cicatriz hipertrófica em queiloplastia (1,85%), 6 fístulas em palatoplastia (9,83%) e 2 deiscências em palatoplastia (3,28%). A incidência de complicações foi de 9,56% quando analisado o total de cirurgias, sendo 5,55% nos pacientes submetidos a queiloplastia e 13,11% nos pacientes submetidos a palatoplastia. Conclusão: A incidência de complicações durante os anos iniciais de estruturação do serviço foi semelhante a outros estudos da literatura.

Introduction: Cleft lip and palate is the most common congenital craniofacial malformation. Difficulties in eating, speaking, and hearing are common in these patients, requiring multidisciplinary treatment, which makes it difficult to create and maintain specialized services. The diversity of classifications and the large number of surgical techniques used in primary surgeries (cheiloplasty and palatoplasty) make it difficult to compare epidemiological data and complications between services, and there is a lack of studies evaluating newly created specialized centers for cleft lip and palate. Method: A prospective cohort study was carried out with patients diagnosed with cleft lip and palate who underwent primary surgical procedures at the Hospital de Clínicas of the Universidade Federal de Uberlândia, between July 2017 and February 2023. Patients under 18 years of age with follow-up were included. post-operative period of at least 3 months. Results: 79 patients participated in the study, who underwent 115 primary surgeries (54 cheiloplasties and 61 palatoplasties). 11 complications were reported in this period: 2 dehiscences in cheiloplasty (3.70%), 1 hypertrophic scar in cheiloplasty (1.85%), 6 fistulas in palatoplasty (9.83%) and 2 dehiscences in palatoplasty (3.28%). The incidence of complications was 9.56% when analyzing the total number of surgeries, being 5.55% in patients undergoing cheiloplasty and 13.11% in patients undergoing palatoplasty. Conclusion: The incidence of complications during the initial years of structuring the service was similar to other studies in the literature.

Prevalencia de patología urogenital en la consulta ambulatoria de varones adolescentes. Estudio descriptivo transversal / Prevalence of urogenital disease in male adolescent outpatient visits. A descriptive, cross-sectional study

Introducción. El examen genital en varones es una evaluación clínica simple y rápida para detectar patología urogenital. Los datos sobre prevalencia de patología urogenital en varones adolescentes son limitados. Nuestro objetivo fue describir la prevalencia de patología urogenital en varones adolescentes. Población y métodos. Estudio descriptivo transversal en el Servicio de Adolescencia de un hospital público de la Ciudad de Buenos Aires. Se evaluaron retrospectivamente las historias clínicas (HC) de varones de 9 a 20 años atendidos entre 2008 y 2018; se incluyeron las que tenían examen genital. Se recabaron datos de edad, estadio puberal, orquidometría, patología urogenital antes de la adolescencia y al momento de la consulta. La prevalencia se expresó en porcentaje e intervalo de confianza del 95 % (IC95%). Se estimó necesario incluir 1167 HC como muestra poblacional. Resultados. Se evaluaron 2129 HC; se incluyeron 1429. En 686 casos no se hizo el examen genital. La población tuvo una mediana de edad de 12 años (rango intercuartílico 11-14 años). En 72 varones (5,7 %; IC95% 4,5-7,2), se halló una enfermedad genitourinaria antes de la adolescencia. Se detectó al menos una patología urogenital en 272 adolescentes (14,8 %; IC95% 13,1-16,7); las más frecuentes fueron adherencia balanoprepucial 5,3 % (IC95% 4,2-6,6), varicocele 2,7 % (IC95% 2-3,7) y fimosis 1,8 % (IC95% 1,2-2,6). Conclusiones. El examen genital permitió detectar que el 14,8 % de los varones adolescentes atendidos presentó alguna patología urogenital. Las entidades más frecuentes fueron adherencia balanoprepucial, varicocele y fimosis.

Introduction. The male genital exam is a simple and quick assessment to look for urogenital disease. Data on the prevalence of urogenital disease in male adolescents are limited. Our objective was to describe the prevalence of urogenital disease in male adolescents. Population and methods. Descriptive, cross-sectional study conducted at the Department of Adolescenceof a public hospital in the City of Buenos Aires. The medical records of male patients aged 9 to 20 years seen between 2008 and 2018 were retrospectively reviewed; all those with a genital exam were included. Data on age, pubertal stage, orchidometry, and urogenital disease before adolescence and at the time of consultation were recorded. The prevalence was described as percentage and 95% confidence interval (CI).As per estimations, 1167 medical records had to be included to establish the population sample. Results. A total of 2129 medical records were assessed and 1429 were included. No genital exam had been conducted in 686 cases. The median age of the population was 12 years (interquartile range: 11­14 years). Urogenital disease before adolescence was detected in 72 boys (5.7%; 95% CI: 4.5­7.2). Urogenital disease was found in 272 adolescents (14.8%; 95% CI: 13.1­16.7); the most common conditions were balanopreputial adhesions in 5.3% (95% CI: 4.2­6.6), varicocele in 2.7% (95% CI: 2­3.7), and phimosis in 1.8% (95% CI: 1.2­2.6). Conclusions. A genital exam allowed to detect that 14.8% of adolescent boys had a urogenital diseaseThe most common conditions were balanopreputial adhesions, varicocele, and phimosis.

Eventos adversos em crianças submetidas a cirurgias orofaciais / Adverse events in children submitted to orofacial surgery / Eventos adversos en niños sometidos a cirugía orofacial

Objetivo: Identificar os eventos adversos no pós-operatório imediato de queiloplastia e/ou palatoplastia em crianças e comparar os eventos identificados aos notificados ao Núcleo de Segurança do Paciente. Métodos: Estudo descritivo, retrospectivo e quantitativo, realizado em um hospital público e terciário brasileiro. Os dados foram coletados por meio da descrição nos registros de enfermagem e comparados aos notificados ao Núcleo de Segurança do Paciente, referente a junho e dezembro de 2019. Os resultados foram submetidos a análise estatística descritiva. Resultados: A amostra constou de 203 crianças, das quais 51% (n=103) apresentaram evento adverso. Foram identificados 176 eventos adversos, de 8 tipos, com prevalência da laringite pós-extubação (n=50; 28%), edema de língua (n=34; 19%) e lesão de comissura labial (n=25; 14%). Destes, apenas 5% (n=9) foram notificados ao Núcleo de Segurança do Paciente. Conclusão: Os eventos adversos prevalentes se relacionaram a cavidade oral e tecidos adjacentes, e a subnotificação foi expressiva. (AU)

Objective: To identify adverse events in the immediate postoperative period of cheiloplasty and/or palatoplasty in children and compare the identified events to those notified to the Patient Safety Center. Methods: Descriptive, retrospective and quantitative study, carried out in a Brazilian public and tertiary hospital. Data were collected through descriptions in nursing records and compared to those notified to the Patient Safety Center, referring to June and December 2019. The results were subjected to descriptive statistical analysis. Results: The sample consisted of 203 children, of which 51% (n=103) had an adverse event. A total of 176 adverse events of 8 types were identified, with prevalence of post-extubation laryngitis (n=50; 28%), tongue edema (n=34; 19%) and labral commissure lesion (n=25; 14%). Of these, only 5% (n=9) were notified to the Patient Safety Center. Conclusion: The prevalent adverse events were related to the oral cavity and adjacent tissues, and underreporting was significant. (AU)

Objetivo: Identificar eventos adversos en el postoperatorio inmediato de queiloplastia y/o palatoplastia en niños y comparar los eventos identificados con los notificados al Centro de Seguridad del Paciente. Métodos: Estudio descriptivo, retrospectivo y cuantitativo, realizado en un hospital público y terciario brasileño. Los datos se recolectaron mediante descripciones en registros de enfermería y se compararon con los notificados al Centro de Seguridad del Paciente, referidos a junio y diciembre de 2019. Los resultados fueron sometidos a análisis estadístico descriptivo. Resultados: La muestra estuvo conformada por 203 niños, de los cuales el 51% (n = 103) tuvo un evento adverso. Se identificaron un total de 176 eventos adversos de 8 tipos, con prevalencia de laringitis posextubación (n=50; 28%), edema de lengua (n=34; 19%) y lesión de la comisura del labrum (n=25; 14%). De estos, solo el 5% (n=9) fueron notificados al Centro de Seguridad del Paciente. Conclusion: Los eventos adversos prevalentes se relacionaron con la cavidad bucal y los tejidos adyacentes y el subregistro fue significativo. (AU)

Manejo de Alteraciones Neurosensoriales Asociadas a Procedimientos Quirúrgicos Mandibulares, Scoping Review

Las alteraciones neurosensoriales son complicaciones que se pueden presentar posterior a la realización de ciertos procedimientos quirúrgicos orales. Múltiples reportes indican específicamente el territorio inervado por el nervio alveolar inferior y nervio lingual como las regiones mayormente afectadas. Dar a conocer las diferentes alternativas terapéuticas para estas complicaciones, sería de suma relevancia para el clínico, con el propósito de mejorar el pronóstico en cuanto a la recuperación neurosensorial de estos nervios. El objetivo de este trabajo fue describir el manejo terapéutico de las alteraciones neurosensoriales asociadas al daño del nervio alveolar inferior y nervio lingual, en procedimientos quirúrgicos mandibulares. La búsqueda de la literatura científica fue realizada en las bases de datos PubMed, Scopus y Web of Science. Se utilizaron los términos de búsqueda "Trigeminal nerve injuries", "lingual nerve", "mandibular nerve", "oral surgical procedures", "treatment" en conjunto al conector booleano "AND" y "OR". Fueron considerados artículos publicados entre los años 2012 y 2022. En la selección de los artículos primarios se eliminaron los duplicados y se aplicaron los criterios de inclusión y exclusión. Finalmente se realizó el análisis a texto completo con un total de 14 artículos seleccionados. Un total de 14 artículos fueron revisados. Del total de artículos, 6 corresponden a terapia láser de bajo nivel, 2 a medicación y bloqueo del ganglio estrellado, 1 a bloqueo de ganglio estrellado e irradiación con luz xenón y 5 artículos corresponden a tratamiento mediante reparación microquirúrgica. La terapia láser de bajo nivel, el bloqueo del ganglio estrellado, la administración de vitamina B12/ATP y la reparación microquirúrgica son tratamientos efectivos para las alteraciones neurosensoriales ocasionadas por lesiones del nervio alveolar inferior y nervio lingual.

SUMMARY: Neurosensory abnormalities are complications can occur after performing certain oral surgical procedures. Multiple reports specifically indicate the area innervated by the inferior alveolar nerve and the lingual nerve as the most affected regions. Presenting the different therapeutic alternatives for these complications would be extremely relevant for the clinician, in order to improve the prognosis in terms of neurosensory recovery of these nerves. The objective of this study was to describe the therapeutic management of neurosensory abnormalities associated with damage to the inferior alveolar nerve and lingual nerve, in mandibular surgical procedures. The search for scientific literature was carried out in the PubMed, Scopus and Web of Science databases. The search terms "Trigeminal nerve injuries", "lingual nerve", "mandibular nerve", "oral surgical procedures", "treatment" together with the boolean connector "AND" and "OR" were used. Articles published between the years 2012 and 2022 were considered. In the selection of primary articles, duplicates were eliminated and the inclusion and exclusion criteria were applied. Finally, the full text analysis was carried out with a total of 14 selected articles. A total of 14 articles were reviewed. About the articles, 6 correspond to low-level laser therapy, 2 to medication and stellate ganglion block, 1 to stellate ganglion block and xenon light irradiation, and 5 articles correspond to treatment by microsurgical repair. Low-level laser therapy, stellate ganglion block, vitamin B12/ATP administration, and microsurgical repair are effective treatments for neurosensory abnormalities caused by inferior alveolar nerve and lingual nerve injuries.

Duplicación del colédoco asociado a unión biliopancreática anómala: Reporte de caso / Common bile duct duplication associated with anomalous biliopancreatic junction: A case report

Introducción. La duplicación del colédoco es una anomalía congénita poco frecuente. En la mayoría de los casos este defecto se asocia a cálculos en la vía biliar, unión pancreatobiliar anómala, pancreatitis, cáncer gástrico o colangiocarcinoma. Por esta razón, el diagnóstico y el tratamiento temprano son importantes para evitar las complicaciones descritas a futuro. Métodos. Se presenta el caso de una paciente de 30 años, con antecedente de pancreatitis aguda, con cuadro de dolor abdominal crónico, a quien se le realizaron varios estudios imagenológicos sin claro diagnóstico. Fue llevada a manejo quirúrgico en donde se documentó duplicación del colédoco tipo II con unión pancreatobiliar anómala. Resultados. Se hizo reconstrucción de las vías biliares y hepatico-yeyunostomía, con adecuada evolución postoperatoria y reporte final de patología sin evidencia de tumor. Conclusión. El diagnóstico se hace mediante ecografía endoscópica biliopancreática, colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El tratamiento depende de si está asociado o no a la presencia de unión biliopancreática anómala o cáncer. Si el paciente no presenta patología neoplásica, el tratamiento quirúrgico recomendado es la resección del conducto con reconstrucción de las vías biliares.

Introduction. Double common bile duct is an extremely rare congenital anomaly. This anomaly may be associated with bile duct stones, anomalous biliopancreatic junction, pancreatitis, bile duct cancer, or gastric cancers. Thus, early diagnosis and treatment is important to avoid complications. Clinical case. We report a rare case of double common bile duct associated with an anomalous biliopancreatic junction in a 30-year-old female, with prior history of acute pancreatitis, who presented with chronic abdominal pain. She underwent several imaging studies, without clear diagnosis. She was taken to surgical management where duplication of the type II common bile duct was documented with anomalous pancreatobiliary junction. Results. Reconstruction of the bile ducts and hepatico-jejunostomy were performed, with adequate postoperative evolution and final pathology report without evidence of tumor. Conclusion. Diagnosis is usually performed by an endoscopic ultrasound, magnetic resonance cholangiopancrea-tography, or endoscopic retrograde cholangiopancreatography. Treatment depends on the presence of anomalus biliopancreatic junction or concomitant cancer. In cases without associated malignancy, resection of bile duct and biliary reconstruction is the recommended surgical treatment.

Prevalência de anomalias dentárias e outros achados orais em radiografias panorâmicas de brasileiros com fissura labiopalatal: um estudo retrospectivo / Prevalence of dental anomalies and other oral findings on panoramic radiographs of Brazilian with cleft lip and palate: a retrospective study

Objetivo: avaliar a prevalência de anomalias dentárias (AD) e outros achados orais em radiografias panorâmicas de pacientes com fissuras labiopalatais (FLP) nascidos no Nordeste brasileiro. Métodos: a amostra foi composta por 69 pacientes com fissuras labiopalatais unilateral (FLPu) (n = 51) e bilateral (FLPb) (n = 18), não sindrômicos, de ambos os sexos, idade de 6 a 17 anos, nascidos no Nordeste brasileiro. Foram analisados prontuários e radiografias panorâmicas de pacientes atendidos de janeiro/2020 a julho/2022. Os dados categóricos foram expressos em forma de frequência absoluta e percentual e comparados por teste exato de Fisher ou qui-quadrado de Pearson (SPSS, p < 0,05). Resultados: entre os achados orais, destacaram-se as anomalias de número e as ausências dentárias por trauma, cárie ou doença periodontal. As AD foram identificadas em 34 pacientes (49,3%). As anomalias de número apresentaram maior prevalência, com diferença estatística significativa para pacientes FLPb do sexo masculino (p = 0,047). A agenesia foi a AD mais frequente (n = 24; 34,8%). As ausências dentárias por trauma, cárie ou doença periodontal foram observadas em 44 pacientes (n = 63,8%), com uma diferença estatística significativa entre os grupos FLPu e FLPb (p = 0,018). Conclusões: as AD e as ausências dentárias por trauma, cárie ou doença periodontal apresentaram uma alta prevalência entre pacientes brasileiros com FLP e devem ser consideradas durante o planejamento ortodôntico-cirúrgico desses indivíduos.

Aim: this study aimed to assess the prevalence of dental anomalies (DA) and other oral findings in panoramic radiographs of patients with cleft lip and palate (CLP) born in the Northeast region of Brazil. Methods: the sample consisted of 69 patients with unilateral cleft lip and palate (UCLP) (n = 51) and bilateral cleft lip and palate (BCLP) (n = 18), non-syndromic, of both genders, aged 6 to 17 years, born in the Brazilian Northeast. Patient records and panoramic radiographs from those treated between January 2020 and July 2022 were analyzed. Categorical data were expressed as absolute frequency and percentage and compared using Fisher's exact test or Pearson's chi-square test (SPSS, p < 0.05). Results: among oral findings, anomalies in number and tooth absences due to trauma, caries, or periodontal disease stood out. DAs were identified in 34 patients (49.3%). Anomalies in number showed higher prevalence, with a statistically significant difference for male BCLP patients (p = 0.047). Agenesis was the most frequent DA (n = 24; 34.8%). Tooth absences due to trauma, caries, or periodontal disease were observed in 44 patients (63.8%), with a statistically significant difference between the UCLP and BCLP groups (p = 0.018). Conclusions: DAs and tooth absences due to trauma, caries, or periodontal disease showed a high prevalence among Brazilian patients with CLP and should be considered during the orthodontic-surgical planning for these individuals.

Malformación linfática quística gigante del hígado: dos casos pediátricos con diferente abordaje quirúrgico / Giant cystic lymphatic malformation of the liver: two pediatric cases with different surgical approach

Introducción. Las malformaciones linfáticas quísticas, también llamadas linfangiomas quísticos, aparecen muy raramente de forma aislada en el hígado. Casos clínicos. Se presentan dos pacientes femeninas de edad preescolar con marcada hepatomegalia, dependiente de lesiones quísticas multitabicadas, secundarias a malformación linfática quística gigante del hígado, que fueron tratadas en el Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Resultados. En ambos casos el diagnóstico se apoyó en los estudios de imágenes, la laparoscopia y el análisis histopatológico. En un caso el tratamiento fue la hepatectomía derecha, mientras que en el otro se empleó la escleroterapia, ambas con evolución favorable. Conclusión. A pesar de su rareza, este diagnóstico no debe obviarse ante un paciente pediátrico con lesiones hepáticas quísticas. El tratamiento de elección es la resección quirúrgica, pero su indicación y envergadura debe valorarse de forma individualizada

Introduction. Cystic lymphatic malformations, also called cystic lymphangiomas, are very rarely found in the liver. Clinical cases. Two pediatric female preschool-age patients. presented with hepatomegaly due to multi-septated cystic lesions of the liver, who received treatment at Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Results. We report two pediatric cases with giant cystic lymphatic malformation of the liver. In both cases, the diagnosis were based on imaging, laparoscopy and pathology. In one case the treatment was right hepatectomy, whereas in the other, sclerotherapy was performed, both with a favorable outcome. Conclusion. Despite its rarity, this diagnosis should be considered in pediatric patients with hepatic cystic lesions. The recommended treatment is surgical resection, but its indication and extent should be assessed individually for each patient.

Analysis of the Influence of High-Altitude Hypoxic Cold Environment on Fe-male Menstruation and Related Risk Factors / 实用妇产科杂志

Objective:To investigate the effect of anoxic cold environment at 4500 m altitude on female men-struation.Methods:From March 1 to March 20,2023,women in a unit at an altitude of 4500 meters were selected for reproductive health questionnaire survey,and were divided into≤6 months group,6 months to 12 months group and≥12 months group according to altitude exposure time.The changes of menstruation in each group were analyzed to explore the relevant influencing factors.Results:The total incidence of abnormal menstruation in working women in hypoxic cold environment was as high as 66.14%,and there was no statistically significant difference between the groups at different high-altitude exposure times(P＞0.05).The highest incidence of dys-menorrhea among the types of menstrual changes was 61.90%,but there was no statistically significant differ-ence between the groups at different high altitude exposure times(P＞0.05).There was a statistically significant difference(P＜0.05)in the proportion of insufficient sleep for at least 3 days per week,nervousness and anxiety,and training during their menstrual period in the women who experienced changes in their menstrual cycle com-pared to those who did not.Conclusions:Hypoxic cold environment can lead to the change of female menstrua-tion,and it is combined with sleep deficiency,tension and anxiety,and menstrual exercise.

Imaging findings of X-ray defecography and MR defecography in patients with solitary rectal ulcer syn-drome / 实用医学杂志

Objective The imaging findings of X-ray defecography(XRD)and magnetic resonance defecog-raphy(MRD)of patients with Solitary Rectal Ulcer syndrome(SRUS)were retrospectively analyzed to provide important information for clinical diagnosis and treatment.Methods 19 patients with SRUS confirmed by clinical,pathological and colonoscopy were included in this study.Among them,15 patients underwent XRD and 7 patients underwent MRD,and 3 patients underwent both XRD and MRD.Data of all enrolled patients were collected and pelvic floor function was measured.Results In the results of XRD,3 patients(20%)showed rectal intussusception.8 patients(53.3%)showed external rectal prolapse and 2 patients(13.3%)showed moderate rectocele.In addition,there were 2 patients of puborectal muscle hypertrophy,and 1 patient of bladder prolapse and uterine prolapse,respectively.For MRD,3 patients(42.9%)showed rectal mucosal prolapse(partial prolapse).At 4 patients(57.1%)with rectocele,3 patients(all female)had moderate rectocele,1 patient had mild rectocele.3 patients were also observed related anterior and middle compartment organ descent.2 patients of pubulorectal muscle hypertrophy,no sigmoidocoele.Conclusion Defecography can evaluate the structural and functional abnormalities of pelvic floor in SRUS patients,such as external rectal prolapse,rectal protrusion,rectal mucosal prolapse,and rectal intussusception,which has guiding significance for the treatment of SRUS patients.

Value of automated functional imaging in predicting coronary artery stenosis in patients without ventricular wall motion abnormalities / 新乡医学院学报

Objective To explore the value of automated functional imaging(AFI)in predicting coronary artery stenosis in patients without ventricular wall motion abnormalities.Methods A total of 40 patients without ventricular wall motion abnormalities under two-dimensional echocardiography and confirmed coronary artery heart diseases(CHD)(coronary stenosis≥70％)by coronary angiography(CAG)at the Xinxiang Central Hospital from July 2018 to September 2019 were selected as the research subjects.The detection rates of coronary artery stenosis ≥70％by AFI and CAG were compared.With reference to CAG as the gold standard,the predictive value of AFI for coronary artery stenosis ≥70％was evaluated.Results There was no significant difference in the detection rates of coronary artery stenosis ≥70％by AFI and CAG(x2=1.667,P＞0.05).The predictive efficacy of AFI for coronary artery stenosis ≥70％was as follows:a sensitivity of 100％,a specificity of 63.6％,the positive predictive value of 69.2％,the negative predictive value of 100％,and an accuracy of 80％for predicting stenosis ≥70％in the left anterior descending artery;a sensitivity of 56.2％,a specificity of 91.6％,the positive predictive value of 81.8％,the negative predictive value of 75.8％,and an accuracy of 77.5％for predicting stenosis ≥70％in the left circumflex artery;a sensitivity of 95.6％,a specificity of 47.0％,the positive predictive value of 70.9％,the negative predictive value of 88.0％,and an accuracy of 75.0％for predicting stenosis ≥70％in the right coronary artery;the overall sensitivity of 85.9％,the overall specificity of 69.8％,the overall positive predictive value of 72.0％,the overall negative predictive value of 84.6％,and the overall accuracy of 77.5％.Conclusion AFI can provide a sensitive,objective,non-invasive,and inexpensive examination method for the early clinical forecast of coronary artery stenosis.

Efficacy of retrograde intramedullary nailing in managing tibial osteofibrous dysplasia in pediatric patients / 中华骨科杂志

Objective:To delineate the surgical methodology and therapeutic paradigm of proximal tibial notch retrograde interlocking intramedullary nailing for ameliorating deformities due to osteofibrous dysplasia (OFD) in a pediatric population.Methods:A retrospective assessment was conducted on the medical records of individuals undergoing orthopedic osteotomy complemented by retrograde interlocking intramedullary nailing for OFD of the tibia from January 2016 to December 2019. The cohort comprised 15 patients, with a follow-up exceeding three years, documenting complete data sets. The patient profile included 8 males and 7 females, with 8 left-side and 7 right-side afflictions. The mean age at the time of surgery was 10.1±2.5 years, ranging from 7.1 to 12.6 years. Parameters measured were preoperative and postoperative imaging findings, which encompassed the scope of the lesion (longitudinal lesion length relative to tibial length), coronal and sagittal limb alignments, and lower limb length discrepancies.Results:The mean follow-up duration was 3.4±1.3 years, ranging from 3 to 6.6 years. Preoperatively, prominent anterior tibial arch deformities and limping were present, with 7 cases reporting fatigue-induced pain and 3 instances of pathological fractures. Post-surgery, pain symptoms were resolved, gait disturbances were improved in 9 patients, and completely resolved in 6. Tibial osteotomy or fracture healing of 15 patients averaged 3.9±0.7 months (range 3-5 months). The lesion range before surgery was 0.41±0.17, immediately after surgery was 0.38±0.17, and at the last follow-up was 0.30±0.16, with no statistical significance ( F=0.101, P=0.904). Lesion range showed no significant change throughout treatment, but radiographic density within the lesion notably increased post-surgery, suggesting bone improvement. The anterior tibial arch Angle was 28.30°±6.62° (range 20°-45°) before surgery, 4.73°±1.53° immediately after surgery, and 6.87°±1.36° at the last follow-up, with statistical significance ( F=159.739, P<0.001). A significant correction in the anterior tibial arch deformity was achieved and maintained postoperatively. There was no significant angular deformity of the tibia in the coronal plane before operation, and the medial proximal tibial angle (MPTA) and lateral distal tibial angle (LDTA) were 87.50°±1.46° and 88.30°±1.62°, 88.40°±1.46° and 88.70°±1.45° immediately after surgery, and 88.00°±1.39° and 89.10°±1.53° at the last follow-up, the differences were statistically significant ( F=1.741, P=0.188; F=1.016, P=0.371), there was no coronal deformity of tibia. The limb length discrepancy (LLD) was 0.60±0.98 cm before surgery, 0.18±0.93 cm at the last follow-up, with statistical significance ( t=0.096, P=0.761). There were no incidents of postoperative complications such as infection. Conclusion:In pediatric cases of tibial deformities attributed to osteofibrous dysplasia, a therapeutic strategy involving osteotomy for lower limb realignment, sans curettage or bone grafting of the lesion, followed by retrograde interlocking intramedullary nailing, yields favorable outcomes. Importantly, this implantation technique does not compromise the integrity of the proximal tibial epiphyseal plate in children and adolescents.

Clinical effect of plating after lengthening to assist the consolidation of tibial shortening in children / 中华骨科杂志

Objective:To explore the clinical effect of plating after lengthening to assist the consolidation of tibial shortening deformity in children.Methods:A retrospective analysis was conducted on 10 children with tibial shortening who were treated with circular external fixator lengthening and replacement with plate-assisted internal fixation (study group) in the Department of Pediatric Orthopedics of Tianjin Hospital from November 2019 to October 2022, and 16 children who were treated by circular external fixator only during the same period were enrolled as the external fixator group (control group). Among the 26 cases, there were 15 males and 11 females, 10 left knees and 16 right knees. The average age at the time of surgery was 8.8±4.7 years (range 5.1-13.8 years). The gender, side, age at the time of surgery were compared between the two groups. The extension length, external fixator index, healing index, Kolcaba comfort scale score, knee and ankle joint range of motion, complications and average total hospitalization costs were recorded.Results:There were no significant differences in gender, side, age at the time of surgery between the study group and control group. The extended lengths were 5.44±1.25 cm and 5.78±1.11 cm respectively without significant difference ( t=0.096, P=0.096). The external fixator index and healing index were 17.86±2.94 d/cm vs. 50.97±7.03 d/cm and 40.94±6.63 d/cm vs. 45.24±5.98 d/cm in study group and the control group with significant differences ( t=13.299, P<0.001; t=1.289, P=0.033). The Kolcaba comfort scale score of the children in the study group was higher than that of the control group, with significant difference ( t=6.821, P=0.001). Comparing the range of motion of the knee and ankle joints between the two groups, there were no significant differences before surgery, at the end of extension surgery, and at the final follow-up. When the extension end was healed, the range of motion of the knee joint was137.89°±4.40° vs. 114.09°±13.60° and ankle joint was 64.35°±5.50° vs. 56.65°±8.86° in the study group and control group with significant difference ( t=17.235, P<0.001; t=7.821, P=0.002). In the study group, 4 cases had pin tract infection, but no refracture occurred; in the control group, pin tract infection occurred in 13 cases, and refracture occurred in 2 cases after removal of the external fixator. The average total hospitalization cost of the study group was higher than that of the control group with significant difference ( t=3.745, P=0.036). Conclusion:The clinical effect of replacing plate-assisted internal fixator during the mineralization period of tibial shortening in children is reliable, and can significantly shorten the time for using external fixator. It is beneficial to the healing of the extended end of the osteotomy and the functional recovery of the knee and ankle joints. Being more comfortable for children with fewer complications, it is applicable for children who need long-distance extension, multiple extensions with limited joint function, poor tolerance for external fixators and low treatment compliance.

Clinical and genetic analysis of children with developmental and epileptic encephalopathy 18 caused by SZT2 gene variants / 中华神经科杂志

Objective:To investigate the clinical phenotype and genetic characteristics of developmental epileptic encephalopathy 18 (DEE18) caused by SZT2 gene variants. Methods:Clinical data of 2 children with SZT2 related DEE18 who visited the Department of Pediatric Neurology, Linyi People′s Hospital in March 2020 and July 2023 were collected. The whole exome sequencing (WES) and Sanger sequencing were applied to verify the child and their parents. SWISS-MODEL software was used to perform protein 3D modeling for the selected SZT2 gene variants. Results:Both of the 2 cases showed severe global developmental delay, epileptic seizures, autism, megacephaly, facial deformity, hypotonia, corpus callosum malformation, persistent cavum septum pellucidum, and slow background activity and focal discharge in video electroencephalography. Case 1 was easy to startle and thin in stature; case 2 had immune deficiency and clustered seizures. WES results showed that case 1 carried a compound heterozygous variant of c.5811G>A (p.W1937X) (paternal) and c.9269delG (p.S3090Ifs *94) (maternal), while case 2 carried a compound heterozygous variant of c.6302A>C(p.H2101P) (paternal) and c.7584dupA (p.E2529Rfs *20) (maternal), the parents of both patients with normal clinical phenotypes. The 4 mutations mentioned above were novel variations that had not yet been reported domestically or internationally. According to the American College of Medical Genetics and Genomics variant classification criteria and guidelines, the p.S3090Ifs *94 variant was interpreted as pathogenic; p.W1937X variant was interpreted as pathogenic; p.E2529Rfs *20 variant was interpreted as likely pathogenic; p.H2101P variant was interpreted as uncertain significance. 3D modeling showed that the variant of p.H2101P resulted in a significant change in the hydrogen bond around the 2 101st amino acid encoded, leading to a decrease in protein stability. The other 3 variants led to early truncation of peptide chain and obvious changes in protein structure. Conclusions:DEE18 caused by SZT2 gene mutation is mainly an autosome recessive genetic disease, and its clinical manifestations include global developmental delay, epileptic seizures, autism, craniofacial malformation, hypotonia, epileptic discharge, corpus callosum malformation, persistent cavum septum pellucidum, shock, small and thin stature, and immune deficiency. Four novel variants related to the SZT2 gene may be the genetic etiology of DEE18 patients in this study.

Clinicopathological features and prognosis of fetal prune belly syndrome: analysis of five cases / 中华围产医学杂志

Objective:To investigate the clinicopathological features and prognosis of fetal prune belly syndrome (PBS).Methods:This retrospective study collected and analyzed the clinical data of five fetuses with PBS diagnosed through a pathological autopsy in Women and Children's Hospital, School of Medicine, Xiamen University, from December 2016 to January 2023. The clinicopathological features of these cases were summarized, and the subsequent pregnancy outcomes in their mothers were followed up. A descriptive statistical method was used for data analysis.Results:(1) Megabladder or enlarged bladder was observed in the five fetuses (four males and one female) with a maximum diameter of 4.4 cm (1.6-8.9 cm). Two fetuses were complicated by renal dysplasia, one by an absence of kidney, and ureters, one by bilateral ureterectasia and possible posterior urethral atresia, and one by the dilated cerebral ventricle, gastroschisis, exposed viscera, and scoliosis. The pregnancies were terminated at the gestational age of 15 +6 weeks (12 +5-19 +4 weeks). (2) The five fetuses exhibited distended and thin abdominal walls with excessive dilation of the bladder. There were two cases with the partially absent abdominal wall, one with diaphragmatic dysplasia, two with renal dysplasia complicated by pyeloureterectasis, two with urethratresia and anal atresia, one with hydroderma and sever seroperitoneum, and one with absent left kidney and left ureter. The muscle layers of the bladder wall, abdominal wall, and ureter tube wall were of varying thickness, and the arrangement of muscle fibers was disordered with incomplete or absent muscle layers in some areas. Moreover, the glomeruli and renal tubules were reduced to varying degrees and fibrous interstitial hyperplasia was observed. Immunohistochemical staining revealed thin muscle layers and broken muscle layers in some regions. (3) One fetus carried a compound heterozygous variant of c.907G>A/c.461C>T in the DHCR7 gene, which was found to be a pathogenic variation. The other four cases had no obvious abnormalities. (4) By August 2023, apart from one case lost to follow-up, the other four were followed up for 68 months (7-80 months). Three women were successfully conceived again after an interval of 16, 24, and 19 months, respectively, and the other one did not conceive due to being in a recovery period. Three neonates were delivered at term in good condition, and no obvious abnormality in growth or development was reported during a three-year follow-up. Conclusions:Fetal PBS is a rare congenital malformation characterized by dysplasia of the abdominal wall and the bladder smooth muscle layers. The subsequent pregnancy is generally not affected.

Imaging manifestation of crossed ectopic fused kidney / 中国医学影像技术

Objective To explore imaging manifestations of crossed ectopic fused kidney.Methods Data of 12 patients with crossed ectopic fused kidney were retrospectively analyzed,and the imaging manifestations of crossed ectopic fused kidney were observed.Results L type crossed ectopic fused kidney was detected in 5 cases,while inferior ectopic type(Ii type),S-shaped type and lump type(O type)ectopic fused kidney was found each in 2 cases,respectively,and doughnut or disc type(C-C type)ectopic fused kidney was noticed in 1 case.The ectopic fused kidney presented with empty one side renal cavity,while the morphology and position of the contralateral kidney were generally normal in all 12 cases,which crossed the midline and fused with the contralateral in situ kidney,including right to left crossed ectopic fusion in 8 cases and left to right crossed ectopic fusion in 4 cases.The ureters of the crossing kidney went across the midline,opened into the bladder trigone on the contralateral side in 11 cases or prostate in 1 case.Combined reproductive system abnormalities were found in 3 cases,including unicornous uterus,bicornuate uterus and cryptorchidism each in 1 case.Two cases were found complicated with abnormal inferior vena cava,including 1 case of both side inferior vena cava and 1 case of left inferior vena cava.Conclusion The imaging manifestations of crossed ectopic fused kidney had characteristics.Complete displaying of reveal fused kidney,ureteral course and opening was helpful to accurate diagnosis and classification of crossed ectopic fused kidney.

Coaxial needle technique assisted percutaneous liver biopsy in patients with coagulation function abnormalities: a multicenter study / 中华超声影像学杂志

Objective:To investigate the effectiveness and safety of the coaxial needle technique in percutaneous liver biopsy for patients with coagulation function abnormalities.Methods:Clinical data of 210 patients who underwent percutaneous liver biopsy using the coaxial needle technique under ultrasound guidance from December 2018 to May 2021 in 3 centers were collected. A retrospective analysis was conducted to compare the puncture success rate, number of samples obtained, pathology qualification rate, intraoperative and postoperative bleeding rates between the group with coagulation function abnormalities and the group with normal coagulation function.Results:After propensity score matching, there were 105 patients in each group, with a puncture success rate of 100% in both groups. The pathology qualification rate was 100% for all samples.Intraoperative bleeding occurred in 78 cases (74.3%, 78/105) in the coagulation function abnormalities group and in 64 cases (61.0%, 64/105) in the normal coagulation function group, with a statistically significant difference between the two groups ( P=0.006). Postoperative bleeding occurred in 3 cases (2.9%, 3/105) in the coagulation function abnormalities group and in 0 case in the normal coagulation function group, with no statistically significant difference between the two groups ( P=0.081). Conclusions:The use of the coaxial needle technique for percutaneous liver biopsy in patients with coagulation function abnormalities not only allows for obtaining an adequate tissue sample but also demonstrates good safety.