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.

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.

Gallbladder-agenesis—a-rare-case-report

Gallbladder agenesis is a rare congenital entity. The incidence is around 1 per 6500 live births. Around 50-70% patients are asymptomatic and the rest are symptomatic with symptoms mimicking biliary colic. Right upper quadrant ultrasound (US) is usually either misleading or inconclusive. Also advanced diagnostic studies such as hepatobiliary iminodiacetic acid (HIDA) scan and endoscopic retrograde cholangio-pancreatography (ERCP) may show non- visualization of the gallbladder and erroneously lead providers to a diagnosis of cystic duct obstruction rather than Gallbladder Agenesis. So some patients are only finally diagnosed intraoperatively. Surgery in these patients becomes risky because unnecessary dissection while looking for the non-existent gallbladder can result in injury of the biliary tree, hepatic vasculature, or small bowel. Therefore, clinicians should keep Gallbladder Agenesis on their differential diagnosis list and imaging modalities such as magnetic resonance cholangiopancreatography (MRCP) should be obtained when other tests are inconclusive. We report a 48-year-old female presenting with chronic symptoms consistent with biliary colic and an equivocal US reported as cholelithiasis. She underwent laparoscopy during which the absence of the gallbladder was noted.

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.

Prevalence of Palmaris Longus Muscle Agenesis Among Students Assessed Using Various Clinical Assessment Tests

Introduction: Since the lack of Palmaris Longus Muscle (PLM) has no effect on hand and wrist function, it is considered a non-essential muscle. However, its clinical relevance stems from its widespread application in reconstructive and hand surgery. In addition to gender differences, some sources assert that its absence is more prevalent in those genders who lack it in some way, that it is more prevalent when both eyes are missing, and that it is more prevalent when just one eye is present. Aim: The primary objective of this research was to find out how common PLM agenesis is among students of both genders. The secondary objective was to demonstrate that a classical test (Schaffer’s test) can be reliably compared to other tests such as Thompson’s test, Mishra’s test, AIIM’s test, and the Hiz-Ediz test. Materials and Methods: The study was a cross-sectional study carried out at the MAHSA University; A total of 224 cases, comprised of 126 (56.3%) females and 98 (43.8%) males. Each participant was requested to perform five clinical tests namely, Schaeffer’s test, Thompson’s test, Mishra’s test, AIIM’s test, and the Hiz-Ediz test. Results: The frequent agenesis of the palmaris longus in the right forearm of our study with the Schaeffer’s test was (20.5%) and Thompson’s and Hiz-Ediz tests had equal percentages of agenesis (22.3%) while Mishra’s test (22.8%), and AIIMs test (29.5%) of the participants. Moreover, Thompson’s test had the highest percentage of (70.5%) compared to other tests for detecting the presence of PLM in the left forearm. The second nearest test for PLM detection was Schaeffer’s test with a percentage of (67.4%). AIIMs test was able to detect PLM in (64.3%) of the participants and Mishra’s test and Hiz-Ediz tests had close percentages of (59.4%) and (57.6%) respectively for PLM detection. Conclusion: It can be concluded that Thompson’s test had a higher percentage among the tests to detect the presence of the PLM tendon in females while Schaeffer’s test was more significant in males. Thompson’s test had the best accuracy level and the highest percentage level of agreement with Schaeffer’s test compared to the other tests.

A novel mutation in the WNT6 gene of congenital tooth agenesis / 口腔疾病防治

Objective @#This article explores the relationship between congenital tooth agenesis and related gene mutations, providing a reference for early diagnosis of the disease.@*Methods @# Clinical and radiographic examinations of a rare case of congenital tooth agenesis were conducted to evaluate the abnormal morphology and quantity of the teeth, as well as the overall health of the patient. Bidirectional sequencing of the PAX9 and MSX1 genes and whole-exome sequencing were conducted to identify potential genetic abnormalities. Sanger sequencing of the newly discovered mutation site was performed on the proband's son. Subsequently, the impacts of the mutations were evaluated through computational tools and a cell-based gene transfection assay. @*Results @#This is a rare case of tooth agenesis characterized by a congenitally missing first molar, a second molar with one single root and a supernumerary second premolar in the right mandibular dentition. The c.717 C>C/T in PAX9 is synonymous. The c.119C>G in MSX1 is a missense mutation predicted to be “benign” by Polyphen. Through whole-exome sequencing, we found a novel mutation, c.637-7 C>A in intron 3 of the WNT6 gene, which is predicted by MAXENT to influence the splicing of mRNA. Both the proband and his son carry this mutation. A cell-based gene transfection assay demonstrated that it did not alter the mRNA splicing of WNT6. @* Conclusion @#The interaction between single nucleotide polymorphisms may contribute to congenital tooth agenesis.

Research progress on selective tooth agenesis caused by LRP6 gene mutation / 口腔疾病防治

@#Selective tooth agenesis (STA) is an abnormal number of teeth due to genetic factors or the environment and is most commonly observed for permanent teeth. LRP6 is one of the common causative genes of STA and is inherited by an autosomal dominant mechanism, leading to non-syndrome tooth agenesis (NSTA) or syndrome tooth agenesis (STA). NSTA is only involved in tooth number and appearance abnormalities, whereas STA caused by LRP6 gene mutation results abnormal ear development, oral-facial clefting, sparse hair and hypohidrosis. In this paper, we review the phenotype and gene mutation traits of selective STA caused by LRP6 gene mutation identified in recent years and describe 38 patients with tooth agenesis from 24 mutation sites of LRP6 gene. We analyzed the percentage of missing teeth and found that the lateral incisor in the maxilla and the second premolar in the maxilla and mandible were most commonly lost, whereas all central incisors in the maxilla remained. LRP6 gene plays a major role in tooth development via the WNT/β-catenin signaling pathway, and LRP6 gene mutation can lead to a series of abnormal manifestations due to the disruption of the signaling pathway. The literature showed that LRP6 gene mutations occurred mostly at the E1 or E2 subdomain, meaning that STA due to the mutants extracellularly disturbed the WNT/β-catenin signaling pathway. However, mature treatments for selective congenital tooth loss are lacking.

Preliminary study of familial nonsyndromic tooth agenesis caused by ectodysplasin A mutation / 口腔疾病防治

Objective@# To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia.@*Methods @# Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools.@*Results@#The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA. @* Conclusion@#A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.

Clinical features of 102 patients with different types of Herlyn -Werner -Wunderlich syndrome / 中南大学学报(医学版)

OBJECTIVES@#Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare female genital tract malformation, and there are few large sample studies reported at home and abroad. The clinical manifestations of this syndrome are diverse, and insufficient understanding may delay the diagnosis and treatment of the patients. This study aims to analyze the clinical characteristics of different types of HWWS patients, and to improve the diagnosis and treatment of HWWS.@*METHODS@#The clinical data of patients with HWWS who were hospitalized in the Department of Obstetrics and Gynecology, Third Xiangya Hospital of Central South University from October 1, 2009 to April 5, 2022 were retrospectively analyzed. The age, medical history, physical examination, imaging examination and treatment of the patients were collected for statistical analysis. The patients were divided into an imperforate oblique vaginal septum type, a perforate oblique vaginal septum type, and an imperforate oblique vaginal septum and cervical fistula type. The clinical characteristics of different types of HWWS patients were compared.@*RESULTS@#A total of 102 HWWS patients were enrolled, with age of 10-46 years old, including 37 (36.27%) patients with type I, 50 (49.02%) type II, and 15 (14.71%) type III. All patients were diagnosed after menarche, with an average age of (20.5±7.4) years. There were significant differences in the age of diagnosis and course of disease among the 3 types of HWWS patients (both P<0.05). Patients with type I had the youngest age of diagnosis [(18.0±6.0) years] and the shortest course of disease (median course of 6 months), while patients with type III had the oldest age of diagnosis [(22.9±9.8) years] and the longest course of disease (median course of 48 months). The main clinical manifestation of type I was dysmenorrhea, and the main clinical manifestation of type II and type III was abnormal vaginal bleeding. Of the 102 patients, 67 (65.69%) patients had double uterus, 33 (32.35%) had septate uterus, and 2 (1.96%) had bicornuate uterus. The vast majority of patients had renal agenesis on the oblique septum, and only 1 patient had renal dysplasia on the oblique septum. The oblique septum located on the left side in 45 (44.12%) patients and on the right side in 57 (55.88%) patients. There were no significant differences in uterine morphology, urinary system malformation, pelvic mass, and oblique septum among the 3 types of HWWS patients (all P>0.05). Six (5.88%) patients had ovarian chocolate cyst, 4 (3.92%) patients had pelvic abscess, and 5 (4.90%) patients had hydrosalpinx. All patients underwent vaginal oblique septum resection. Among them, 42 patients underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen because they had no sexual life history, and the remaining 60 patients underwent traditional oblique vaginal septum resection. Among the 102 patients, 89 patients were followed up for 1 month to 12 years. The symptoms of vaginal oblique septum in 89 patients such as dysmenorrhea, abnormal vaginal bleeding and vaginal discharge were improved after operation. Among the 42 patients who underwent hysteroscopic incision of the oblique vaginal septum without destroying the intact hymen, 25 patients underwent hysteroscopies again 3 months after operation, and there was no obvious scar formation at the oblique septum incision site.@*CONCLUSIONS@#Different types of HWWS have different clinical manifestations, but all can be manifested as dysmenorrhea. The patient's uterine morphology can be manifested as double uterus, septate uterus, or bicornuate uterus. The possibility of HWWS should be considered if uterine malformation is combined with renal agenesis. Vaginal oblique septum resection is an effective treatment.

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.

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.

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants

Abstract Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) from 2018 to 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This discovery expands the known variant spectrum of PAX9; then, we summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion We found that PAX9 variants commonly lead to loss of the second molars.

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.

Clinical diagnosis and genetic analysis of 46,XY complete gonadal dysplasia caused by a new mutation of NR5A1 gene / 现代泌尿外科杂志

【Objective】 To investigate the clinical characteristics and molecular genetic mechanism of 46,XY complete gonadal dysplasia (46,XY CGD) caused by a new mutation of NR5A1 gene. 【Methods】 The clinical data of a female patient with 46 XY karyotype were retrospectively analyzed, and the whole exon group and mitochondrial group genes were detected. 【Results】 The clitoris was hypertrophic. The patient had both urethral orifice and vaginal orifice, and there was no common passage between them. Ultrasonography showed an unclear primordial uterus and bilateral ovaries. The gonad biopsy showed poorly developed testicular tissue. Karyotype was 46,XY. The detection of whole exon group and mitochondrial group genes indicated a new heterozygous missense mutation in NR5A1 gene on chromosome 9, and the variation information was c.205C>T:p. Arg69Cys. The mother did not carry the gene mutation. 【Conclusion】 The clinical manifestations of 46,XY CGD are diverse. NR5A1 gene mutation is one of the important causes, which provides a basis for the clinical diagnosis and pathogenesis of the disease.

Agenesia del páncreas dorsal: reporte de caso y revisión del tema / Agenesis of the dorsal pancreas: case report and topic review

Complete agenesis of the dorsal pancreas (ADP) is an exceedingly rare congenital anomaly, compatible with life. It may be asymptomatic and usually incidentally diagnosed. In symptomatic cases, the clinical manifestations vary from abdominal pain, pancreatitis and diabetes mellitus to exocrine insufficiency with steatorrhea. We present a case report of a 28 year old female with ADP, diagnosed incidentally during radiological evaluation for hyperglycemias in SARS COV2 concomitant affection. Magnetic resonance cholangiopancreatography confirmed the absence of, neck, body and tail of the pancreas. Knowing the pancreatic embryogenesis, the clinical presentation of their malformations and the main radiological characteristics is important for the proper diagnosis of these anomalies.

Detección polimórfica del rs104893850 de MSX1 y rs28933373 de PAX9 en personas con agenesia dental no sindrómica / Polymorphic detection of rs104893850 of MSX1 and rs28933373 of PAX9 in people with non syndromic dental agnesia

Introducción: la agenesia dental no sindrómica (ADNS) genera efec- tos negativos en la salud oral y psicosocial de los seres humanos. El determinante genético desempeña un papel importante en su desarrollo. Objetivo: determinar la frecuencia de los polimorfismos rs104893850 de MSX1 y rs28933373 de PAX9 en pacientes de seis a 18 años con ADNS. Material y métodos: estudio transversal prolectivo en el cual se revisaron individuos de seis a 18 años sin defectos congénitos y originarios del estado de Durango. Después de haber obtenido su con- sentimiento para formar parte del estudio, se estableció el diagnóstico de ADNS a través de una inspección clínica odontológica y un examen radiográfico. Se tomó una muestra de sangre capilar para la genotipi- ficación de los polimorfismos a través de la técnica de qPCR-HRM. Resultados: de un total de 124 individuos, 77 (62%) mujeres y 47 (38%) hombres; sólo 39 presentaron ADNS. En el análisis polimórfico de rs104893850 de MSX1 y rs28933373 de PAX9 se obtuvo 94.9% y 84.6% respectivamente de homocigotos mutados. Conclusiones: se obtuvo una alta frecuencia de hipodoncia, el diente que mostró más agenesia fue el órgano dentario 18. Las mutaciones polimórficas están presentes en una alta proporción de agenesia dental (AU)

Introduction: non-syndromic dental agenesis (NSDA) generates negative oral health and psychosocial effects in humans. The genetic determinant plays an important role in its development. Objective: to determine the frequency of MSX1 rs104893850 and PAX9 rs28933373 polymorphisms in patients aged 6 to 18 years with NSDA. Material and methods: prolective cross-sectional study, in which individuals aged 6 to 18 years without congenital defects and from the city of Durango were reviewed. After obtaining their consent to be part of the study, the diagnosis of NSDA was established through a clinical dental inspection, a radiographic examination and a capillary blood sample was taken for the genotyping of the polymorphisms through the qPCR-HRM technique. Results: out of a total of 124 individuals, 77 (62%) females and 47 (38%) males; only 39 presented ADNS. In the polymorphic analysis of rs104893850 of MSX1 and rs28933373 of PAX9 we obtained 94.9% and 84.6% respectively of mutated homozygotes. Conclusions: a high frequency of hypodontia was obtained, and the tooth that presented the most agenesis was dental organ 18. Polymorphic mutations are present in a high proportion for dental agenesis (AU)

Three-dimensional Printer Molds for Vaginal Agenesis: An Individualized Approach as Conservative Treatment / Moldes de impressão tridimensionais para agenesia vaginal: Uma abordagem individualizada como tratamento conservador

Abstract Objective The aim of this study was to evaluate the use of vaginal molds, made with three-dimensional (3D) printing, for conservative treatment through vaginal dilation in patients with vaginal agenesis (VA). Methods A total of 16 patients with a diagnosis of VA (Mayer-Rokitansky-Küster-Hauser syndrome, total androgen insensitivity syndrome, and cervicovaginal agenesis) from the Federal University of São Paulo were selected. Device production was performed in a 3D printer, and the polymeric filament of the lactic polyacid (PLA) was used as raw material. A personalized treatment was proposed and developed for each patient. Results There were 14 patients who reached a final vaginal length of 6 cm or more. The initial total vaginal length (TVL) mean (SD) was 1.81(1.05) and the final TVL mean (SD) was 6.37 (0.94); the difference, analyzed as 95% confidence interval (95% CI) was 4.56 (5.27-3.84) and the effect size (95% CI) was 4.58 (2.88-6.28). Conclusion The 3D printing molds for vaginal dilation were successful in 87.5% of the patients. They did not present any major adverse effects and offered an economical, accessible, and reproducible strategy for the treatment of VA.

Resumo Objetivo O objetivo deste estudo foi avaliar o uso de moldes dilatadores vaginais, confeccionados com impressão tridimensional (3D), para tratamento conservador através da dilatação vaginal em pacientes com agenesia vaginal (AV). Métodos Foram selecionadas 16 pacientes com diagnóstico de AV (síndrome de Mayer-Rokitansky-Küster-Hauser, síndrome de insensibilidade androgênica total e agenesia cervicovaginal), da Universidade Federal de São Paulo. A produção dos dispositivos foi realizada em uma impressora 3D e, como matéria-prima, foi utilizado o filamento polimérico do poliácido lático (PLA). Um tratamento personalizado foi proposto e desenvolvido para cada paciente. Resultados Quatorze pacientes atingiram um comprimento vaginal final (CVF) de 6 cm ou mais. A média inicial do CVF (DP) foi de 1,81 (1,05) e a média final do CVF (DP) 6,37 (0,94); a diferença (IC 95%) foi de 4,56 (5,27-3,84) e o tamanho do efeito (IC 95%) foi de 4,58 (2,88-6,28). Conclusão Os moldes de impressão 3D para dilatação vaginal obtiveram sucesso em 87,5% das pacientes. Como impacto secundário, não apresentaram efeitos adversos importantes e ofereceram uma estratégia econômica, acessível e reprodutível para o tratamento da AV.

Isolated Unilateral Pulmonary Artery Agenesis: Report of Two Cases

Unilateral agenesis of pulmonary artery (UAPA) is a rare congenital anomaly that occurs due to malformation of the sixth aortic arch and about 70% of the patients have associated cardiovascular anomalies. However, UAPA without any associated cardiovascular anomalies is termed isolated UAPA. Cases of isolated UAPA may remain asymptomatic and survive into adulthood. Majority of the adults are asymptomatic and can present with recurrent respiratory tract infections. Presence of pulmonary hypertension carries a poor prognosis. There is no specific treatment for UAPA. We report two patients of UAPA with adult presentation.

Complete Pericardial Agenesis in a Pregnant Patient: A Clinical Dilemma

Abstract Pericardial agenesis is a rare congenital anomaly found predominantly in men, and its complete form is extremely rare and difficult to diagnose. This report describes the case of a pregnant patient with complete pericardial agenesis in which mode of delivery and sterilization raised debate among specialists.