Reabilitação de dente com hipoplasia de turner: relato de caso / Rehabilitation of tooth with Turner's hypoplasia: Case report

Os defeitos de esmalte são alterações qualitativas ou quantitativas na estrutura dentária, que originam-se de fatores sistêmicos, locais ou genéticos. A hipoplasia de Turner é um defeito na espessura do esmalte localizado cuja etiologia decorre de um traumatismo ou infecção periapical presente no dente decíduo predecessor, afetando o desenvolvimento do dente permanente. O objetivo do presente estudo foi apresentar um caso clínico de paciente infantil com dente hipoplásico de Turner em pré-molar, que tornou-se não vital sem que houvesse lesão de cárie ou trauma adicional. Em razão das características clínicas e radiográficas do dente afetado, bem como do risco de cárie e do comportamento cooperador da paciente, optou-se pela reabilitação do elemento afetado por meio de tratamento endodôntico e de restauração semidireta em resina composta. Torna-se de fundamental importância o conhecimento da etiologia e a realização de um exame clínico e radiográfico minucioso visando ao diagnóstico precoce e à elaboração de um plano de tratamento adequado para todos os defeitos de desenvolvimento do esmalte, incluindo-se a hipoplasia de Turner, cujo tratamento dependerá da severidade da alteração, do comportamento do paciente e do risco de cárie. Sugere-se a realização de estudos que associem a microestrutura do esmalte hipoplásico com a ausência de vitalidade pulpar.

Enamel defects are qualitative or quantitative changes in the tooth structure originating from systemic, local, or genetic factors. Turner's hypoplasia is a defect in the thickness of the localized enamel whose etiology arises from trauma or periapical infection in the predecessor deciduous tooth, affecting the permanent tooth's development. The objective of the present study was to present a clinical case of a child patient with a hypoplastic Turner premolar tooth, which became non-vital without the occurrence of caries, or additional trauma. Due to the affected tooth's clinical and radiographic characteristics, the risk of cavities, and the patient's cooperative behavior, it was decided to rehabilitate the affected element through endodontic treatment and semidirect restoration in composite resin. It is of fundamental importance to know the etiology and carry out a thorough clinical and radiographic examination aiming at early diagnosis and the development of an adequate treatment plan for all enamel developmental defects, including Turner's hypoplasia, whose treatment will depend on the severity of the change, the patient's behavior and the risk of caries. Studies are suggested to be carried out that associate the microstructure of hypoplastic enamel with the absence of pulp vitality.

Infiltração resinosa em lesões brancas cariosas e não cariosas: relato de casos / Infiltración resinosa em lesiones blancas cariosas y no cariosas: Reporte de Casos / Resinous infiltration in carious and non-carious white lesions: Case Reports

Introdução: O processo de desmineralização proveniente da cárie leva à formação de manchas brancas que são a primeira manifestação visível da doença. Os infiltrantes resinosos surgem como uma alternativa para o tratamento dessas lesões não cavitadas, pois sãoresinas de baixa viscosidade e faz parte dos procedimentos que visam uma odontologia menos invasiva. Objetivo: Este estudo objetiva relatar a experiência clínica no uso de infiltrante resinoso, Icon, em lesões de mancha branca de etiologias cariosa e não cariosa em dois pacientes distintos, insatisfeitos com a estética do seu sorriso. Descrição do caso: Ao exame clínico foi observado nos pacientes com lesões brancas. No primeiro paciente, de 14 anos, verificou-se a presença da atividade de cárie e micro cavitações. Dessa forma, o plano de tratamento perpassou orientação de higiene oral supervisionada, aplicação de verniz fluoretado, Enamelast, semanal, adequação do meio com restaurações em resina, e só então o uso do infiltrante. A segunda paciente, de 11 anos, já possuía saúde bucal adequada e tinha queixa estética devido à lesão branca não cariosa, hipoplasia, cujo plano de tratamento foi à utilização do Icon apenas. Conclusões: Nos dois casos obteve-se melhoria estética considerável com este procedimento microinvasivo. Melhoria na saúde bucal, aliado à devolução da estética, pode ser observada com o uso de infiltrantes resinosos (AU).

Introduction: The process of demineralization resulting from caries leads to the formation of white spots that are the first visible manifestation of the disease. Resin infiltrants appear as an alternative for the treatment of these non-cavitated lesions, since they are low viscosity resins and are part of the procedures that aim at a less invasive dentistry.Objective:This study aims to report the clinical experience in the use of a resin infiltrant, Icon,in white spot lesions of carious and non-carious etiologies in two different patients who were dissatisfied with the esthetics of their smiles.Methodology: On clinical examination, white lesions were observed in both patients. In the first patient,14 years old,the presence of caries activity and micro cavitations was verified. Thus, the treatment plan included supervised oral hygiene guidance, weekly application of fluoride varnish,Enamelast, adaptation of the environment with resin restorations, and, onlythen, the use of the infiltrant, Icon. The second patient, 11 years old,already had adequate oral health and had an esthetic complaint due to a non-carious white lesion, hypoplasia, whose treatment plan consisted of the use of Icon only.Conclusions:In both cases considerable esthetic improvement was obtained with this microinvasive procedure. Improvement in oral health, combined with the return of esthetics, can be observed with the use of resin infiltrants (AU).

Introducción: El proceso de desmineralización resultante de la caries conduce a la formación de manchas blancas, que son la primera manifestación visible de la enfermedad. Losinfiltrantes de resina aparecen como una alternativa para el tratamiento de estas lesiones no cavitadas, pues se tratan de resinas de baja viscosidad y forman parte de los procedimientos que buscan una odontología menos invasiva. Objetivo:Este estudio tiene como objetivo relatar la experiencia clínica en el uso del infiltrante de resina,Iconen lesiones de mancha blanca de etiologías cariosas y no cariosas en dos pacientes diferentes, insatisfechos con la estética de sus sonrisas.Metodología: En el examen clínico se observaron lesiones blancas en ambos pacientes. En el primer paciente, 14 añosse verificó la presencia de actividad de caries y micro cavitaciones. De ese modo, el plan de tratamiento incluyó la orientación supervisada de la higiene bucal,la aplicación semanal de barniz de flúor (Enamelast), la adaptación del entorno con restauraciones de resina y, sólo después, el uso del infiltrante,Icon. La segunda paciente, 11 años,ya tenía una salud bucal adecuada y presentaba una queja estética debido a una lesión blanca no cariosa, hipoplasia, cuyo plan de tratamiento fue el uso exclusivo de Icon. Conclusiones: En ambos casos, se consiguió una mejora estética considerable con este procedimiento microinvasivo. La mejora de la salud bucal, unida a la recuperación de la estética, puede observarse con el uso de infiltrantes de resina (AU).

Presentación de 11 pacientes con el diagnóstico de agenesia e hipoplasia pulmonar diagnosticados en un periodo de 24 años y revisión de la literatura / Presentation of 11 patients diagnosed with pulmonary agenesis and hypoplasia over a period of 24 years and a review of the literature

La agenesia pulmonar (AgP), la aplasia pulmonar (AP) e hipoplasia pulmonar (HP) son malformaciones congénitas poco comunes. En la AgP, no se desarrollan el bronquio ni el pulmón; en la AP, hay un bronquio rudimentario sin parénquima pulmonar; y en la HP, uno o ambos pulmones presentan un tamaño reducido debido a trastornos en su crecimiento. Las causas de la AgP, AP y HP pueden ser tanto primarias como secundarias, predominando estas últimas. Entre ellas se incluyen: oligohidroamnios, anomalías esqueléticas, enfermedades neuromusculares, hernia diafragmática, malformaciones vasculares, cardiopatías complejas, genopatías y cromosomopatías. El rango de manifestaciones varía desde pacientes asintomáticos hasta aquellos con dificultad respiratoria neonatal de leve a severa. Con el tiempo, algunos pacientes pueden experimentar neumonías recurrentes y progresar hacia una enfermedad pulmonar crónica (EPC). La imagenología juega un papel crucial en el diagnóstico. El pronóstico está fuertemente influenciado por la presencia de otras malformaciones congénitas. Generalmente, el enfoque terapéutico es conservador. Este artículo detalla la presentación clínica y la evolución a lo largo de 24 años de 11 pacientes diagnosticados con AgP o HP.

Pulmonary agenesis (AgP), aplasia (AP), and hypoplasia (HP) are rare congenital malformations. In AgP, there is no development of the bronchus or lung; in AP, a rudimentary bronchus is present without lung parenchyma; and in HP, one or both lungs are reduced in size due to growth disorders. The causes of AgP, AP, and HP can be either primary or secondary, with the latter being more common. Examples include oligohydramnios, skeletal anomalies, neuromuscular diseases, diaphragmatic hernia, vascular malformations, complex heart diseases, genopathies, and chromosomal disorders. The spectrum of manifestations ranges from asymptomatic patients to those with mild to severe neonatal respiratory distress. Over time, some patients may experience recurrent pneumonias and progress to chronic lung disease (CLD). Imaging studies are crucial for diagnosis. The prognosis primarily depends on the presence of other congenital malformations. The treatment approach is generally conservative. This article describes the clinical presentation and evolution over 24 years of 11 patients diagnosed with AgP or HP.

Application and accuracy assessment of a novel 3D-printed osteotomy guide in anterior maxillary segmental distraction osteogenesis / 上海交通大学学报（医学版）

Objective·To evaluate the effects of anterior maxillary segmental distraction osteogenesis(AMSDO)in treating sagittal maxillary hypoplasia in cleft lip and palate(CLP)patients and to report a 3D-printed surgical guide to facilitate the osteotomy.Methods·Twelve patients with CLP who underwent AMSDO were included in this study.Virtual osteotomy was performed in a 3-dimensional model and the osteotomy line were fabricated into a tooth-borne surgical guide by using 3D-printing technique.Lateral cephalograms taken before surgery(T0),at the end of consolidation(T1)and six months after consolidation(T2)were used to evaluate the effects of AMSDO.The accuracy of the osteotomy guide was measured by superimposing the postoperative CT data to virtual planning.Results·All the patients went through surgery without serious complications.SNA and overjet changed significantly both from T0 to T1 and from T0 to T2.ANB,facial convexity,and palatal length changed without significance from T0 to T1 and from T0 to T2.SNB remained stable.All the variables remained relatively stable from T1 to T2.The anteroposterior linear root-mean-square deviation(RMSD)between planning and actual results was 0.90 mm,while the angular RMSD in the sagittal plane was 5.07°.Conclusion·AMSDO is an effective treatment for maxillary hypoplasia secondary to CLP.The accuracy of this 3D-printed osteotomy guide is clinically acceptable,and this can simplify the surgery with fewer complications.

Congenital tongue hypoplasia(non-syndromic):A case report and literature review / 实用口腔医学杂志

Congenital tongue dysplasia is rare in clinical practice.This paper reports a case of congenital tongue dysplasia,and analyzes its possible mechanism in detail through literature review,so as to provide a basis for the prevention of this disease in the first trimester.Accord-ing to the current development conditions of the discipline,the author tries to put forward palliative care program suitable for this disease,es-pecially the serial treatment and psychological management of aglossia deformity,in order to improve the life quality of the children with this disease and provide a certain reference for clinical workers.

46XY simple gonadal hypoplasia: 2 case reports and literature review / 中国综合临床

46XY simple gonadal hypoplasia, also known as Sweyer syndrome, patients often due to primary amenorrhea or pubertal secondary sex characteristics do not develop the doctor, its combined gonadal tumor is more likely, in the treatment process is often recommended prophylactic removal of gonads, postoperative hormone replacement therapy. We describe two patients diagnosed with Sweyer syndrome, one with gonadowlastoma and mature teratoma, and one with nodular Leydig cell hyperplasia and ectopic adrenal tissue, and reviews the literature.

Status of research on diagnostic and treatment strategies for enamel hypoplasia / 口腔疾病防治

@#Enamel hypoplasia is a disease that results in enamel formation and mineralization abnormalities due to the effects of hereditary or environmental variables during tooth development. Affected teeth may appear to have an aberrant color and structural flaws. Patients often display clinical signs such as tooth defects, tooth sensitivity, and tooth discoloration. The disease can cause patients to feel physically and mentally uncomfortable and negatively impact their ability to chew, swallow, speak, and smile. In this review, the pathophysiology of enamel hypoplasia, which is caused by anomalies in gene regulation and changes in environmental variables, is summarized, along with a list of clinical diagnostic indicators based on the most commonly used disease classifications. The main points are as follows: ① enamel hypoplasia changes only the color and transparency of the affected teeth; ② lesions often occur symmetrically in groups; ③ the age at which systemic diseases or nutritional disorders occur during tooth development can be predicted based on the patient's impaired teeth; and ④ banded or pitted brown depression on the enamel surface can easily be confused with dental fluorosis. It also elaborates on the comprehensive application of tooth bleaching, desensitization, direct or indirect restoration and other treatment modalities according to unique chief complaints by different patients and suggests the use of multidisciplinary cooperative sequential treatment for critical infants and young children. The goal of this review is to provide professionals with the most recent information and advice about enamel hypoplasis. Current literature on this condition is primarily case reports. To further standardize the diagnostic and management approaches for this disease, additional high-quality clinical research and systematic reviews are required.

Impact of Molar Incisor Hypomineralization on Oral Health-Related Quality of Life in Brazilian Schoolchildren Aged 8 to 10 Years

ABSTRACT Objective: To assess the impact of Molar Incisor Hypomineralization (MIH) and confounding factors on oral health-related quality of life (OHRQoL) according to the perception of 8 to 10-year-old children and their parents/caregivers. Material and Methods: A cross-sectional study including 403 students aged 8-10 years was carried out, in which OHRQoL was measured using the Child Perceptions Questionnaire administered to both children and parents/caregivers. The diagnosis of MIH was performed according to the previously proposed index. Dental caries experience, malocclusion, and sociodemographic factors were evaluated as confounders. Cluster analysis and Poisson regression with robust variance (p<0.05) were performed. Results: The prevalence of MIH was 13.4%. Parents/caregivers of children with MIH in incisors showed a higher impact prevalence in the emotional well-being domain (PR=1.92; 95%CI=1.16-3.19). Children with hypoplasia had a higher prevalence of negative impact on OHRQoL in the oral symptoms domain (PR=1.51; 95%CI=1.03-2.23). According to the perception of parents/caregivers, dental caries experience had a negative impact on the quality of life of students in the emotional well-being domain (PR=4.19; 95%CI=1.06-16.49) and in the total questionnaire score (PR=3.21; 95%CI=1.06-9.71). Conclusion: According to the perception of parents/caregivers, children with MIH in incisors showed a greater impact on OHRQoL. Additionally, the presence of hypoplasia affected the self-perception of OHRQoL in children, and caries experience influenced the OHRQoL of children, as perceived by parents/caregivers.

Infarction in middle cerebellar peduncle caused by ipsilateral vertebral artery hypoplasia

AICA (anterior inferior cerebellar artery) is a ramification of the basilar artery. It originates in the lower or middle third of the basilar artery at the junction of the medulla oblongata and pons. A young 33-year-old male presented with an unsteady gait, left-sided facial hypoesthesia, and hearing impairment on the left side. On neurological evaluation, he was found to have left-sided sensorineural deafness and signs of incoordination. A brain magnetic resonance image (MRI) was suggestive of an acute infarct in the left middle cerebellar peduncle and a hypoplastic left vertebral artery recognized on MRA. We presented a case report wherein a patient presented with clinical features of a middle cerebellar peduncle infraction caused by hypoplasia of the left vertebral artery.

The prevalence, clinical characteristics, and brain MRI changes in intracranial artery hypoplasia: a retrospective single-center cross-sectional study

reduced cerebral blood flow, increased atherosclerosis, and aneurysm formation. This study aimed to describe the profile of vertebral artery hypoplasia (VAH), anterior CAH (ACAH), and posterior CAH (PCAH) in symptomatic subjects. Methods: This was a retrospective cross-sectional study using medical record in a secondary private hospital in Jakarta, Indonesia, in January-December 2022. The inclusion criteria were age ?18 years with neurological symptoms, underwent brain MRI, and being diagnosed with CAH using DSA. The exclusion criteria were findings of other vascular pathologies including dissection and >50% intracranial vessel stenosis. Demographics of age, sex, body mass index (BMI), hypertension, diabetes, cardiac disorder, and previous stroke were analyzed among VAH, PCAH, and ACAH groups. Results: Of 769 subjects with clinical symptoms undergoing DSA, there were 66 (8.6%) cases of intracranial artery hypoplasia, including VAH (4.6%), PCAH (1.2%), and ACAH (2.9%). Subjects were predominantly old (53.2±10.1 years), male (53.0%), with BMI of 24.9±3.9 kg/m2 and hypertension (69.7%). Previous stroke (69.7%) was more prevalent than in previous study (28.1%). Stroke and brain ischemic lesion were detected in 89.4% and 84.8% cases. No differences were found in all parameters among all groups, but posterior circulation symptoms tended to be found in VAH (28.1%) than general stroke (20.3%). Conclusions: The high percentage of recurrent stroke and corresponding clinical symptoms associated with CAH supported that CAH may be a risk factor for clinical symptoms, including stroke, regardless of the involved artery.

Características visuales en el albinismo: Revisión sistemática / Visual characteristics in albinism: Systematic review / Características visuais no albinismo: Uma revisão sistemática

El albinismo es una condición compleja, en muchos casos incapacitante, afectando a muchas personas alrededor del mundo, incluso puede conducir a la muerte. Los problemas visuales más comunes que pueden existir en el albinismo con fotofobia son defectos refractivos con medidas considerables, problemas a nivel de fondo de ojo, fotofobia y translucencia de iris. La realidad actual estima que 1 de cada 10.000 personas tienen albinismo y pueden presentar estos problemas visuales. Objetivo. Identificar las características visuales en cada tipo de albinismo presentados en los estudios de Latinoamérica durante el periodo 2014-2022. Metodología. Se realizó una revisión sistemática. Como criterios de inclusión se tomó en cuenta el año de publicación de las fuentes. Se utilizaron los siguientes descriptores de búsqueda en español y en inglés: "albinismo", "tipos de albinismo" y "complicaciones albinismo", "albinism", "albinism types", "albinism issues". Resultados. Fueron seleccionados 22 artículos obtenidos de Google Académico, revistas como pubmed, scielo, Elsevier, tesis, de los cuales y basado en controles de calidad se analizaron 12 fuentes. Conclusión. La mayoría de estudios describen tratamientos posibles para el albinismo. Se resaltan hallazgos clínicos que destacan las características en los tipos de albinismo como lo son problemas a nivel del nervio óptico como la hipoplasia, y disminución de la agudeza visual, nistagmus y en ocasiones el problema de posición compensatoria de cabeza.

Albinism is a complex condition, in many cases disabling, affecting many people around the world, and can even lead to death. The most common visual problems that may exist in albinism with photophobia are refractive defects with considerable measurements, problems at the fundus level, photophobia and iris translucency. Current reality estimates that 1 in 10,000 people have albinism and may present with these visual problems. Objective. To identify the visual characteristics in each type of albinism presented in studies in Latin America during the period 2014-2022. Methodology. A systematic review was performed. The year of publication of the sources was taken into account as inclusion criteria. The following search descriptors were used in Spanish and English: "albinism", "types of albinism" and "albinism complications", "albinism", "albinism types", "albinism issues". Results. Twenty-two articles obtained from Google Scholar, journals such as pubmed, scielo, Elsevier, theses were selected, from which and based on quality controls 12 sources were analyzed. Conclusion. Most studies describe possible treatments for albinism. Clinical findings that highlight the characteristics in the types of albinism such as problems at the level of the optic nerve as hypoplasia, and decreased visual acuity, nystagmus and sometimes the problem of compensatory head position are highlighted.

O albinismo é uma condição complexa e, em muitos casos, incapacitante, que afeta muitas pessoas em todo o mundo e pode até levar à morte. Os problemas visuais mais comuns que podem existir no albinismo com fotofobia são defeitos de refração de tamanho considerável, problemas no nível do fundo do olho, fotofobia e translucidez da íris. A realidade atual estima que 1 em cada 10.000 pessoas tem albinismo e pode apresentar esses problemas visuais. Objetivo. Identificar as características visuais em cada tipo de albinismo apresentado em estudos na América Latina durante o período de 2014 a 2022. Metodologia. Foi realizada uma revisão sistemática. O ano de publicação das fontes foi levado em consideração como critério de inclusão. Foram usados os seguintes descritores de busca em espanhol e inglês: "albinismo", "tipos de albinismo" e "complicações do albinismo", "albinismo", "tipos de albinismo", "questões de albinismo". Resultados. Foram selecionados 22 artigos do Google Scholar, revistas como pubmed, scielo, Elsevier, teses, dos quais 12 fontes foram analisadas com base em controles de qualidade. Conclusão. A maioria dos estudos descreve possíveis tratamentos para o albinismo. Os achados clínicos destacam as características dos diferentes tipos de albinismo, como problemas no nervo óptico, como hipoplasia, diminuição da acuidade visual, nistagmo e, às vezes, problemas compensatórios na posição da cabeça.

Mutación genética RAB11B: retraso psicomotor, braquicefalia, hipoplasia de cuerpo calloso. Primer caso descrito en España / Genetic mutation RAB11B: psychomotor retardation, brachycephaly, and corpus callosum hypoplasia. First case described in Spain

El complejo proteico RAB11B, miembro del complejo Rab GTPasa, codificado por el gen RAB11B, juega un papel importante en el desarrollo neuronal y en la formación de las funciones cognitivas. El gen RAB11B codifica un miembro de la subfamilia de las Rab11 GTPasas que se asocia con el reciclaje de las endosomas y participa en la regulación del tráfico de vesículas endoplásmicas. Se presenta el primer caso descrito en España de mutación en el gen RAB11B (mutación c.64G>A en heterocigosis), clínicamente caracterizado por retraso psicomotor, epilepsia, discapacidad intelectual, hipotonía, braquicefalia e hipoplasia del cuerpo calloso. Se realiza comparación del presente caso con otros cinco casos descritos a nivel mundial con la misma mutación, presentando las similitudes y rasgos distintivos(AU)

GTPase complex, encoded by the RAB11B gene, a member of the Rab protein complex which plays a significant role in neuronal development and the shaping of cognitive functions. The RAB11B gene encodes a member of the Rab11 GTPase subfamily that particularly associates with the recycling of endosomes and participates in the regulation of vesicular trafficking. We present the first case described in Spain of psychomotor retardation, intellectual disability due to a mutation in the RAB11B gene (c.64G>A mutation in heterozygosis), clinically characterized by psychomotor retardation, brachycephaly, corpus callosum hypoplasia, epilepsy and intellectual disability. The case is compared with other five cases described worldwide with the same mutation, presenting their similarities and distinctive features(AU)

Treatment of maxillary transverse deficiency with rapid expansion of the palate with mini-implant: a review

One of the most prevalent malocclusions is maxillary constriction, which is a narrowing of the upper arch; its etiology is multifactorial, including mainly genetic factors and parafunctional habits. It is characterized by a posterior crossbite that can be unilateral or bilateral, total or partial, and may even not occur in cases with simultaneous constriction of the mandibular arch. Transverse deficiency or maxillary hypoplasia affects facial growth and the integrity of the dentoalveolar structures. Therefore, it must be corrected as soon as it is diagnosed. As the maxilla widens, the midpalatal suture and the intermaxillary suture expand. When they are not fused, it is connective tissue and behaves viscoelastically in response to externally applied forces. In order to effectively treat any dentofacial deformation, an early diagnostic and therapeutic approach is required.

Treatment of maxillary transverse deficiency with rapid expansion of the palate with mini-implant: a review

One of the most prevalent malocclusions is maxillary constriction, which is a narrowing of the upper arch; its etiology is multifactorial, including mainly genetic factors and parafunctional habits. It is characterized by a posterior crossbite that can be unilateral or bilateral, total or partial, and may even not occur in cases with simultaneous constriction of the mandibular arch. Transverse deficiency or maxillary hypoplasia affects facial growth and the integrity of the dentoalveolar structures. Therefore, it must be corrected as soon as it is diagnosed. As the maxilla widens, the midpalatal suture and the intermaxillary suture expand. When they are not fused, it is connective tissue and behaves viscoelastically in response to externally applied forces. In order to effectively treat any dentofacial deformation, an early diagnostic and therapeutic approach is required.

Prenatal diagnosis of binders phenotype: a cross road to decision making

Binder’s syndrome is an uncommon congenital condition which develops in the first trimester of pregnancy and has characteristic effects on the facial features. Those effects are: arhinoid face, intermaxillary hypoplasia (associated with malocclusion), abnormal position of the nasal bones, nasal mucosa atrophy, anterior nasal spine agenesis and (in most cases) a lack of frontal sinuses. Other deformities, as well as mental retardation, are also possible. Due to the rarity of the disease, there are no treatment trials for these patients. Treatments reported in the medical literature are part of single case reports or small case series of patients. Here is a case report of a 23-year-old who presented to OPD at 26 weeks with features of binders’ phenotype. This woman delivered an infant of 2.7 kg without other abnormalities and no respiratory distress postnatally. Sonographic evaluation during pregnancy depicts proper differential diagnosis and therapeutic strategy. Multidisciplinary approach is mandatory in order to establish meticulous treatment. Further studies must be conducted, achieving this ultimate scope. Even so, the parents should be counselled that Binder syndrome is a tentative diagnosis prenatally, and that not all genetic syndromes can be prenatally excluded.

Nine foveal hypoplasia patients in a family / 中华眼底病杂志

Objective:To observe the clinical features of nine foveal hypoplasia (FVH) patients in a family.Methods:A retrospective clinical study. In August 2018, nine patients with FVH from a family diagnosed in Qilu Hospital of Shandong University (Qingdao) were included in this study. Detailed medical history of the proband was collected. Best corrected visual acuity (BCVA), slit-lamp, cycloplegic refraction, fundus color photography, optical coherence tomography (OCT) and OCT angiography (OCTA) were performed on the proband. The peripheral venous blood of V7 (family member), the proband and the proband's parents were collected for DNA extraction, and gene detection was performed.Results:The proband, a four-year-old girl, had poor vision with BCVA of 0.4 in both eyes. OCT showed absence of foveal pit, absence of outer segment lengthening, absence of outer nuclear layer widening and incursion of inner retinal layers. The proband's mother was 32 years old, and macular foveal reflection was not observed in her eyes. OCT and OCTA examination showed no foveal pit and foveal avascular zone in both eyes. Both eyes of the proband and her mother were diagnosed with Thomas grade 4 FVH. The other seven patients also had no foveal pit, and could be categorized into Thomas grade 3 or 4. No significant pathogenic genes and mutation sites were detected in the proband through whole genome sequencing, and no copy number variation or chromosomal abnormality associated with the phenotype of the proband was detected. After seven months of amblyopia treatment, the proband's BCVA had improved to 0.5 in the right eye and 0.6 in the left eye, while the BCVA did not change after 2 years of follow-up.Conclusion:Nine FVH patients in this family had no foveal pit with similar OCT images, and their visual acuity was affected from lightly to severely. Early amblyopia training is helpful to improve the visual acuity of child patients.

Surgical management of neonatal coarctation of the aorta with aortic arch hypoplasia: A retrospective study in a single center / 中国胸心血管外科临床杂志

@#Objective     To summarize the surgical treatment experience in neonates with coarctation of the aorta (CoA) and aortic arch hypoplasia (AAH). Methods     The neonates with CoA and AAH who underwent surgical treatment in the Department of Pediatric Cardiac Surgery of Guangdong Provincial People's Hospital from 2013 to 2020 were retrospectively enrolled. The postoperative complications, long-term survival rate, and freedom from aortic reobstruction were analyzed. Patients undergoing extended end-to-end anastomosis were allocated into an extended end-to-end group, those undergoing extended end-to-side anastomosis into an extended end-to-side group, and those undergoing pulmonary autograft patch aortoplasty into a patch aortoplasty group. Results     Finally 44 patients were  enrolled, including 37 males and 7 females, aged 5.00-30.00 (19.34±7.61) days and weighted 2.00-4.50 (3.30±0.60) kg. There were 19 patients of extended end-to-end anastomosis, 19 patients of extended end-to-side anastomosis, and 6 patients of pulmonary autograft patch aortoplasty. The mean values of the Z scores of the proximal, distal, and isthmus of the aortic arch were –2.91±1.52, –3.40±1.30, and –4.04±1.98, respectively. The mean follow-up time was 45.6±3.7 months. There were 2 early deaths and no late deaths. Aortic reobstruction occurred in 8 patients, and 3 patients underwent reoperation intervention. The 5-year rate of freedom from reobstruction was 78.8%. The Cox multivariable regression analysis showed that the related factors for postoperative reobstruction were the Z score of the preoperative proximal aortic arch (HR=0.152, 95%CI 0.038-0.601, P=0.007) and the postoperative left main bronchus compression (HR=15.261, 95%CI 1.104-210.978, P=0.042). Conclusion     Three surgical procedures for neonates with CoA and AAH are safe and effective, but the aortic reobstruction rate in long term is not low. The smaller Z score of the preoperative proximal aortic arch and the postoperative left main bronchus compression are risk factors for long-term aortic reobstruction.

ATAD3A gene variations in a family with Harel-Yoon syndrome / 浙江大学学报·医学版

An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.

Clinical and imaging analysis of hypoplastic left atrial appendage / 中国介入心脏病学杂志

Objective This study aims to analyze the clinical and imaging characteristics of atrial fibrillation(AF)patients with left atrial appendage(LAA)hypoplasia and to explore the effectiveness of anticoagulation in preventing left atrial thrombus.Methods A retrospective analysis was conducted on five AF patients with LAA hypoplasia.The patients in this study were diagnosed using left atrial computed tomography venography venography(CTV)and/or transesophageal echocardiography(TEE)out of a total of 3 068 patients who were admitted to Zhoupu hospital between July 2018 and October 2023.The analysis included an examination of clinical features,and imaging data,and anticoagulation treatment was analyzed.Results The study found that out of the 5 patients with LAA hypoplasia,only one patient underwent both left atrial CTV and TEE examinations.One patient underwent chest CT scan and TEE,while the remaining three patients underwent complete left atrial CTV and were all diagnosed with LAA hypoplasia.The diagnosis relied on the delay and venous phase of multiplanar reconstruction of left atrial CTV,while TEE was only able to detect small crevices or no abnormalities.The incidence of LAA hypoplasia was 1.63‰.The characteristics of LAA hypoplasia include a small LAA,thick LAA wall,and LAA without cavity or small.All five AF patients were complicated with cardio-cerebrovascular atherosclerosis,one patient underwent cryoablation,and and antiplatelet or anticoagulant regimen or both therapy strategy was selected.Conclusions LAA hypoplasia is a unique subtype of LAA,that can be diagnosed through multi-plane reconstruction in the delayed and venous phase of left atrial CTV.TEE can serve as a supplementary diagnostic tool,and further research is needed to determine the anticoagulation regimen for AF patients with LAA hypoplasia.

Knowledge of Dentists about Hypomineralization Enamel Defects: A Cross-Sectional Study

ABSTRACT Objective: To evaluate a group of Brazilian dentists on their knowledge of Molar Incisor Hypomineralization (MIH) and Hypomineralized Second Primary Molars (HSPM) related to clinical aspects, consequences, and diagnostic criteria. Material and Methods: In this cross-sectional, the participants were invited by e-mail and Whatsapp® to answer a questionnaire about their knowledge of hypomineralization enamel defects (MIH/HSPM) on the Google Forms® platform. The questionnaire comprised eight questions about personal data and multiple-choice questions about their knowledge concerning clinical aspects, diagnostic criteria of MIH/HSPM and differential diagnosis through clinical images. Chi-square test was applied with the significance level set at 5%. Results: Most participants (n = 492; 91.1%) reported having knowledge about MIH/HSPM. The general dentists gave more incorrect answers (n = 40; 65.6 %;) about dental tissues affected by MIH/HSPM. Overall, 83.3% of the dentists gave the correct answer to which dentitions are associated with this condition. In addition, most dentists presented knowledge about the consequences related to possible fractures (n= 487; 90.2%) and about an increased risk of caries (n= 479; 88.9%) in the affected teeth. Regarding the differential diagnosis performed through clinical images, most participants gave incorrect answers (p≤0.001). Conclusion: The participants presented knowledge about the dentition associated with this condition and possible consequences related to the teeth affected by MIH/HSPM; however, they showed difficulties concerning clinical diagnostic criteria.