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.

Características visuales en el albinismo: Revisión 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.

Do patients with molar incisor hypomineralization have more dental anxiety and behavior management problems? A systematic review with meta-analysis

Abstract This systematic review evaluated the available evidence on whether children with molar incisor hypomineralization (MIH) have more dental fear and anxiety (DFA) and dental behavior management problems (DBMPs) than those without MIH (Prospero CDR42020203851). Unrestricted searches were performed in PubMed, Scopus, Web of Science, Lilacs, BBO, Embase, Cochrane Library, APA PsycINFO, Open Grey, and Google Scholar. Observational studies evaluating DFA and/or DBMPs in patients with and without MIH were eligible. Reviews, case reports, interventional studies, and those based on questionnaires to dentists were excluded. The methodological quality assessment was based on the Newcastle-Ottawa Scale. Random-effects meta-analyses were conducted to synthesize data on DFA. The certainty of evidence was performed according to GRADE. Seven studies that evaluated a total of 3,805 patients were included. All of them presented methodological issues, mainly in the comparability domain. Most studies observed no significant difference in DFA between children with and without MIH. The meta-analysis did not show a significant effect of MIH on the standardized units for the DFA scores (SMD = 0.03; 95%CI: -0.06-0.12; p = 0.53; I2 = 0%). Synthesis including only the results for severe cases of MIH also did not show a significant effect of the condition on DFA scores (MD = 8.68; 95%CI: -8.64-26.00; p = 0.33; I2 = 93%). Two articles found DBMPs were significantly more frequent in patients with MIH. The overall certainty of evidence was very low for both outcomes assessed. The current evidence suggests no difference in DFA between children with and without MIH; DBMPs are more common in patients with MIH. This information should be viewed with caution because of the very low quality evidence obtained.

Rehabilitation Treatment in Pediatric Patients with Molar Incisor Hypomineralization: A Scoping Review

ABSTRACT Objective: To identify the available evidence on the different treatment types for the rehabilitation of MIH-affected teeth in children. Material and Methods: A search was carried out in Pubmed, Cochrane Library, Epistemonikos, Lilacs and Google Scholar. Observational studies published until June 2022 were included. Two reviewers independently screened studies and extracted data. Results: 1593 studies were screened and a total of 38 articles were included, which were mainly case reports published in Brazil. Most included studies concluded that the evaluated treatment was "beneficial" or "probably beneficial". Reported treatments included: glass ionomer cements (GIC), composite resin restorations, preformed metal crowns, laboratory fabricated crowns, microabrasion management of incisors and resin infiltration. Conclusion: Successful treatment options have been identified, such as GIC as a provisional restoration for severe cases and for uncooperative children; restorations with composite, indirect restorations, or preformed metal crowns also seem suitable treatment options for young patients diagnosed with MIH. There is still little evidence to support an approach for anterior teeth affected by MIH.

Use of Images and Clinical Experience to Calibrate Dental Surgeons for the Diagnosis of Molar Incisor Hypomineralization

ABSTRACT Objective: To evaluate an imaging protocol for use as a diagnostic and calibration tool for dentists before and after practical activity. Material and Methods: Thirty photos of children's teeth with or without changes in dental enamel were selected and evaluated by a group of experienced dentists previously calibrated to establish the diagnosis defined as the gold standard. After instructions, the images were shown to a group of postgraduate dentists for free identification of dental changes. Subsequently, a lecture on molar incisor hypomineralization (MIH) was carried out, and, at 14 days and all calibration was performed using the criteria previously. The retest was performed at 28 days. After experience in clinical activity in the following two weeks, the post-test was performed at 49 days. Data were analyzed using Cohen's kappa coefficient. Results: Theoretical learning on the subject showed low inter-examiner agreement when the diagnosis of defects was made from images obtained from intraoral photographs. After clinical practice, there was greater intra-examiner agreement. After theoretical training, dentists started to identify different types of enamel alteration, although with low agreement between them. Conclusion: Clinical experience in theoretical and imaging training favored the identification of defects. However, it is necessary to improve the protocol to establish a reliable and viable diagnostic method for calibration in MIH.

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.

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.

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.

Hipoplasia del lóbulo hepático izquierdo asintomático, hallazgo transquirúrgico, tomográfico y patológico. Presentación de una rara entidad / Asymptomatic Hypoplasia of the Left Hepatic Lobe: Surgical Tomographic and Pathological Findings. Presentation of a Rare Entity

Resumen Antecedentes Las anomalías de la morfología hepática son raras, y se dividen en 2 categorías: las que resultan del desarrollo excesivo de tejido hepático, como el lóbulo de Riedel y otros lóbulos accesorios, y las de desarrollo deficiente del hígado, que incluyen agenesia, hipoplasia y aplasia de los lóbulos hepáticos. Presentación del caso Paciente del sexo masculino de 57 años de edad, sometido a plastia inguinal laparoscópica programada, donde se dio el hallazgo de hipoplasia hepática. Conclusión La hipoplasia hepática es poco frecuente, no presenta síntomas, ni repercusiones clínicas a largo plazo, suele ser un hallazgo incidental durante un estudio de imagen o durante un procedimiento quirúrgico abdominal.

Abstract Background: Abnormalities of liver morphology are rare, divided into two categories: those resulting from overgrowth of liver tissue, such as the Riedel lobe and other accessory lobes, and those with poor liver development include agenesis, hypoplasia and aplasia of the hepatic lobes. Presentation of the case 57-year-old man, subjected to laparoscopic programmed inguinal surgery, finding liver hypoplasia. Conclusions Hepatic hypoplasia is rare, has no symptoms or long-term clinical repercussions, is usually an incidental finding during an imaging study or during an abdominal surgical procedure.

Three-dimensional image study of accelerated maxillary expansion in oral breathing kids

Abstract Objective: To evaluate, by a three-dimensional study, the volumetric and integumentary effects of rapid maxillary expansion on the nose, in mouth breathing kids with maxillary hypoplasia, in the short term, assessing the possible interference of gender, growth and age on the results achieved. Methods: 120 mouth breathing patients with maxilla hypoplasia were divided into an Experimental Group treated by rapid maxillary expansion (n = 104, 62 males and 42 females, mean age 10.1 years, SD = 2.10, ranging from 5.1 to 13.9 years); and Control Group, constituted by 16 patients (9 males and 7 females, mean age 9.3 years, SD = 2.1 years, ranging from 6.1 to 13.2 years). Patients in the experimental group underwent multislice computed tomography examinations at two different times: (T1) pre-expansion and (T2) post-expansion. The control group was submitted to the same tests at the same time intervals. Six soft tissue variables of the nose were studied, besides the volume and area of the nasal cavity, and the measurement and comparison of data between T1 and T2 were performed using the Dolphin Imaging 11.7 Premium software. Results: The experimental group showed significant mean increases in all soft tissue variables studied (p < 0.005), yet there were no significant changes in the control group. In the comparison between groups, only inclination of the nasal dorsum did not present any significant change. Conclusion: Rapid maxillary expansion may alter the nasal shape and physiology, by anatomical changes in the nose soft tissues, making it an important aid in the treatment of mouth breathing in childhood. Level of evidence: The soft tissues of the nose play an important role in nasal shape and physiology and facial esthetics, and since they are directly related to the nasal valves, they are fundamental for maintenance and stability of the nasal breathing pattern.

Variations of the cerebral arterial circle: morphological and clinical analysis / Variaciones del círculo arterial cerebral: análisis morfológico y clínico

SUMMARY: The variations knowledge of the cerebral arterial circle (CAC) is relevant due to its influence on the development of ischemic encephalic disorders. Among these variations, when the external diameter of the posterior communicating artery exceeds the posterior cerebral artery caliber, we have a fetal conformation of this circle. The aim of this study was to describe the variations of the CAC in Chilean individuals and to know the type of arterial conformation. Thirty adult brains were used to measure lengths and caliber of the pre-communicating segments of the anterior (A1) and posterior (P1) cerebral arteries, and the anterior (ACoA) and posterior (PCoA) communicating arteries. The arterial conformation type was established, and the length and caliber of these vessels were compared according to the right or left side. It was observed that 76.6 % of the CACs presented aplasia and / or hypoplasia. Of its components, PCoA was hypoplasic in 53.3 %, appearing bilaterally in 40 % of the subjects. The comparison according to the side, indicated that the mean length of A1 and PCoA on the right side was slightly higher. In the case of caliber, the mean of A1, P1 and PCoA was higher on the left side. Regarding P1 and PcoA caliber, 33 % of the CACs presented unilateral fetal conformation. Regardless of the variability presented by the CAC, there is consensus that PCoA exhibits the greatest variability. The understanding of this variability requires an analysis of the embryonic aspects that can explain the fetal conformation of the CAC in the adult.

RESUMEN: El conocimiento de las variaciones del círculo arterial cerebral (CAC) resultan relevantes por su influencia en el desarrollo de trastornos isquémicos encefálicos. De estas variaciones, los cambios del calibre de la arteria comunicante posterior (ACoP) determinan una conformación fetal de este círculo. El objetivo de este estudio fue describir las variaciones del CAC en individuos chilenos y conocer el tipo de conformación arterial. Se utilizaron 30 encéfalos adultos a los que se midieron las longitudes y calibres de los segmentos precomunicante de las arterias cerebrales anteriores (A1) y posteriores (P1), y de las arterias comunicante anterior (ACoA) y ACoP. Se estableció el tipo de conformación arterial y se comparó la longitud y calibre de estos vasos según lateralidad. Se observó que el 76,6 % de los CAC presentaron agenesias y/o hipoplasias. De sus componentes, la ACoP fue hipoplásica en el 53,3 %, presentándose bilateral en el 40 %. La comparación según lateralidad indicó que la longitud media de A1 y ACoP del lado derecho fueron levemente superiores. En el caso de los calibres, la media de A1, P1 y ACoP fue superior en el lado izquierdo. Respecto de los calibres de P1 y ACoP, el 33 % de los CAC presentaron conformación fetal unilateral. Independientemente de la variabilidad que presenta el CAC, existe consenso de que la ACoP exhibe la mayor variabilidad. La comprensión de esta variabilidad requiere un análisis de los aspectos embrionarios que pueden explicar la conformación fetal de esté círculo arterial en el adulto.

Renal Hypoplasia: Case Literature Review

Introduction: Congenital anomalies of kidney and urinary tract (CAKUT) presents a broad range of disorders including abnormal renal parenchymal development, disrupted parenchymal development, abnormalities of lower urinary tract, urinary collecting system. The knowledge of these anomalies will help the clinicians and surgeons during the procedures of kidney. The purpose of this article is to present one of the cases of renal hypoplasia and the review that highlights renal hypoplasia cases. Methodology: A vertical incision has been made in midline from xiphoid process to pubic symphysis encircling the umbilicus, another incision from pubic symphysis laterally up to the anterior superior iliac tubercle along the iliac crest to expose the abdominal cavity. Details of the position suprarenal gland and the upper poles of the kidneys and external appearance of kidneys in situ were noted. The arrangement of the attached structures such as the hilum with structures passing through, ureter, bladder, abdominal aorta and the inferior vena cava were also noted and recorded. Observation and Result: The size of the left kidney was found small in comparison to right kidney. Coronal section of left kidney also showed a smaller number of renal pyramids, major calyces and minor calyces. Conclusion: The knowledge of anatomical variations of urinary system has a significant role for clinicians and surgeons for diagnosing diseases including congenital anomalies, radiological interpretations, procedures, surgical interventions and management of clinical conditions.

Prevalence of anatomical variants of the Willis polygon in cadavers undergoing medico-legal necropsy / Prevalencia de variantes anatómicas del Polígono de Willis en cadáveres sometidos a necropsia medicolegal

The primary function of the circle of Willis is to provide collateral blood flow between the anterior and posterior arterial systems of the brain. Its configuration can vary considering its vascular structures, this being considered an anatomical variant. Our study aims to determine the prevalence of these, discriminated by sex in corpses subjected to medicolegal autopsy at the National Institute of Legal Medicine and Forensic Sciences in 2019, in Cali-Colombia. Retrospective observational descriptive study, of photographic records, inspection records and expert reports, where variables of age, sex, anatomical variants, compromised vascular structures are differentiated. Univariate and bivariate analyzes were performed. The population consisted of 194 cases, with a median age of 33 years (interquartile range between 23-45). 24.4% corresponded to the male sex. A prevalence of 25.3% of cases with non-classic polygon was observed. The most frequent anatomical variant was hypoplasia 14.9%. The vascular structure that presented the most anatomical variants was the posterior communicating artery with 17%.

La función principal del polígono de Willis es proporcionar flujo sanguíneo colateral entre los sistemas arteriales anterior y posterior del cerebro. Su configuración puede variar teniendo en cuenta sus estructuras vasculares, considerándose esto una variante anatómica. En este estudio analizamos la prevalencia de las variaciones, discriminada por sexo en cadáveres sometidos a necropsia medicolegal en el Instituto Nacional de Medicina Legal y Ciencias Forenses en el año 2019, en Cali-Colombia. Estudio descriptivo observacional retrospectivo, de registros fotográficos, actas de inspección e informes periciales, donde se diferencia variables de edad, sexo, variantes anatómicas, estructuras vasculares comprometidas. Se realizaron análisis uni y bivariados. La población estuvo conformada por 194 casos, con una mediana de edad de 33 años (rango intercuartil entre 23-45). El 24.4% correspondieron al sexo masculino. Un 25,3% de casosse encontró un polígono no clásico. La variante anatómica más frecuente fue la hipoplasia 14.9%. La estructura vascular que más variantes anatómicas presentó fue la arteria comunicante posterior con un 17%.

Algoritmo para el diagnóstico y tratamiento de la hipoplasia del timo pediátrica, asociada o no a inmunodeficiencia / Algorithm for diagnosis and treatment of thymus hypoplasia in childhood, associated or not with immune deficiency

Hace aproximadamente 20 años un grupo de médicos investigadores de Cuba reportaron el empleo de las mediciones del timo por ultrasonografía, como un arma valedera en la evaluación inmunológica de los niños menores de 7 años con cuadros de infecciones frecuentes, fundamentalmente respiratorias. El rango de normalidad propuesto del área de la silueta tímica, es entre 1010,6 - 1425,4 mm2, o sea, 1 218 ± 207,4 mm2. Por debajo y por encima de estos valores se hablaría de hipoplasia e hiperplasia, respectivamente. Se considera hipoplasia grave cuando el área tímica es menor de 500 mm2; moderada cuando se encuentra entre 500 y 799 mm2 y leve cuando se halla entre 800 y 999 mm2. Se propone un algoritmo de diagnóstico y tratamiento que engloba la experiencia clínica de 12 años de trabajo en inmunología clínica pediátrica en el Instituto de Hematología e Inmunología. Este puede constituir una herramienta útil en las manos de los inmunólogos clínicos pediátricos que adecuarían el tratamiento idóneo para llevar el órgano a su tamaño estándar con la consecuente disminución de los procesos infecciosos y la elevación de los niveles de inmunoglobulina A en los pacientes(AU)

About 20 years ago, a group of Cuban medical researchers reported to the literature the use of measurements of the thymus by ultrasonography, as a valid weapon in the immunological evaluation of children under 7 years of age with frequent infections, mainly respiratory. The range of normality proposed for the area of the thymic silhouette is between 1010.6 - 1425.4 mm2, that is, 1 218 ± 207.4 mm2. Below and above these values, we would speak of hypoplasia and hyperplasia, respectively. Severe hypoplasia is considered when the thymic area is less than 500 mm2; moderate when it is between 500 and 799 mm2 and mild when it is between 800 and 999 mm2. A diagnosis and treatment algorithm is proposed that encompasses the clinical experience of 12 years of work in pediatric clinical immunology at the Institute of Hematology and Immunology. It can be a useful tool in the hands of pediatric clinical immunologists who would adapt the ideal treatment to bring the organ to its standard size with the consequent decrease in infectious processes and the elevation of immunoglobulin A levels in patients(AU)

Research progress of Netrin-1 in eye diseases / 国际眼科杂志(Guoji Yanke Zazhi)

@#Netrin-1 is a neuronal axon guidance factor, a soluble protein secreted by the cell floor, and is among the most widely studied members of the Netrins family.Netrin-1 has the diversity of receptors, and its binding to different receptors can activate different biological effects, resulting in multiple functions. Recent studies have revealed that Netrin-1 is closely associated with neural axon guidance, inflammatory responses, neovascularization, apoptosis, and other responses. It can act not only in the central nervous system, but also in many systemic diseases such as those of the respiratory and cardiovascular systems, making it an important target for the treatment of these diseases. In the field of ophthalmology, Netrin-1 is closely associated with optic nerve hypoplasia(ONH), corneal disease, diabetic retinopathy(DR), age-related macular degeneration(ARMD), and retinoblastoma(RB), and has very promising applications in the prevention and treatment of these diseases. In this review, we will explore the association of Netrin-1 with ocular diseases and its role.

Three cases of congenital adrenal hypoplasia with hypogonadotropic hypogonadism due to novel NR0B1 mutation / 中华内分泌代谢杂志

Objective:To advance the understanding of X-linked adrenal hypoplasia congenita(XL-AHC)through genetic analysis.Methods:Genomic DNA was extracted from peripheral blood of three patients with XL-AHC and their family members as well. Pathogenic genes were screened with whole exome sequencing followed by Sanger sequencing and pedigree verification.Results:All three probands were diagnosed as primary adrenal insufficiency at early age and developed hypogonadotropic hypogonadism in adolescence. The proband 1 was hemizygous for c. 420delG(p.R141Gfs*123)mutation in exon 1 of NR0B1 gene. His mother was a heterozygous mutation carrier while his brother did not carry the mutation, which was consistent with the X-linked recessive inheritance. A hemizygous mutation c. 212_213delAA(p.K71Rfs*41)of NR0B1 gene was detected in both proband 2 and proband 3. These two novel mutations were not reported in HGMD database.Conclusions:In this study, two novel NR0B1 mutations, c. 420delG and c. 212_213delAA were identified in 3 patients with XL-AHC. For men with early onset of adrenocortical hypofunction, XL-AHC should be considered. Early genetic screening of NR0B1 gene is helpful for early diagnosis.

Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Discrepancia negativa transversal del maxilar y diferencias cefalométricas laterales según el ancho de la arcada superior / Negative maxillary transverse discrepancy and cephalometric lateral differences according to the width of upper arch

Introduction: Negative maxillary transverse discrepancy is not exclusive to narrow upper arch. The transverse discrepancy due to maxillary deficiency is well described, but this is not the case when the maxilla displays adequate dimensions and the origin of the problem is an excess of mandibular width. Objective: To describe the cephalometric characteristics of negative maxillary transverse discrepancy present in narrow upper arches with those of normal or increased width. Methods: An observational and cross-sectional study was carried out in records of patients with negative maxillary transverse discrepancy. The cases referred to the maxillofacial surgery department at Hospital Clínico Quirúrgico "Hermanos Ameijeiras" between January 2016 and January 2020 were selected. The initial study models were measured and two groups were formed: those with a distance between central fossae of 16 to 26, less than 47 mm and the other with equal or greater values. Lateral cephalometric analysis of Ricketts, McNamara, Björk & Jarabak, Burstone and soft profile were performed on the initial teleradiographs. Using the Mann Whitney U test of independent samples, measurements with statistically significant differences between both groups were selected. (p <0.05). Results: Significant differences were found regarding the cranial-mandibular relationship, mandibular anatomy, maxillo-mandibular relationship and occlusal relationship. The most important differences observed in each group were respectively: S-Ar / Ar-Go ratio (p = 0.033), mandibular body length (p = 0.01), mandibular-maxillary difference (p = 0.003) and overjet (p = 0.043). Conclusions: In the studied patients, negative maxillary transverse discrepancy has the same probability of presenting a wide or in norm upper arch, as well as a narrow arch. In the first case, it is more likely to find jaws with increased body length, a skeletal class III pattern and a concave profile; in the second case, the tendency is to present small jaws with increased articular angle and dental overjet(AU)

Introducción: La discrepancia negativa transversal del maxilar no es exclusiva de una arcada superior angosta. La discrepancia transversal por deficiencia maxilar está bien descrita, pero no ocurre así cuando el maxilar se presenta con dimensiones adecuadas y el origen del problema es un exceso del ancho mandibular. Objetivo: Describir las diferencias cefalométricas de la discrepancia negativa transversal del maxilar que presentan arcadas superiores estrechas con aquellas de ancho normal o incrementado. Métodos: Se realizó un estudio observacional, de corte transversal, en expedientes de pacientes con discrepancia negativa transversal del maxilar. Se seleccionaron los casos que acudieron entre enero del 2016 y enero del 2020 a la consulta de cirugía maxilofacial del Hospital Clínico Quirúrgico "Hermanos Ameijeiras". Se midieron los modelos de estudio iniciales y se conformaron dos grupos: aquellos con distancia entre fosas centrales de 16-26, menor de 47 mm y el otro con valores iguales o superiores. Se realizaron análisis cefalométricos laterales en las telerradiografías iniciales de Ricketts, McNamara, Björk & Jarabak, Burstone y perfil blando. Por medio de la prueba U de Mann Whitney de muestras independientes, se seleccionaron las mediciones con diferencias estadísticas significativas entre ambos grupos (p < 0.05). Resultados: Se encontraron diferencias significativas concernientes a la relación cráneo mandibular, anatomía mandibular, relación máxilo mandibular y relación oclusal. Las diferencias observadas más importantes de cada grupo fueron respectivamente: relación S-Ar/Ar-Go (p = 0,033), longitud del cuerpo mandibular (p = 0,01), diferencia mandibular-maxilar (p = 0,003) y resalte (p = 0,043). Conclusiones: En los pacientes estudiados, las discrepancias negativas transversales tienen la misma probabilidad de presentarse con la arcada superior ancha o en norma, que angosta. En los primeros es más probable encontrar mandíbulas con longitud del cuerpo incrementada, patrón de clase III esquelética y perfil cóncavo; en los segundos, la tendencia es a presentar mandíbulas pequeñas con ángulo articular y resalte dentario aumentados(AU)

Osteotomía Le Fort III modificada en un paciente no sindrómico / Modified Le Fort III osteotomy in a non-syndromic patient

Las discrepancias dento-esqueletales severas presentan un reto para el cirujano maxilofacial, existe una versatilidad de osteotomías para las diferentes anomalías del crecimiento y desarrollo, sin embargo, son pocas las que permiten mejorar la proyección malar. La osteotomía Le Fort III modificada fue utilizada en un principio en pacientes con algún síndrome craneofacial, pero actualmente es una alternativa útil para discrepancias severas en pacientes no sindrómicos, ya que permite un avance cigomático-maxilar, favorece la proyección malar y disminuye la exposición escleral con un número limitado de complicaciones. Se presenta el caso de un paciente masculino de 33 años con antecedente de fractura orbitocigomática y piso orbitario izquierda con una discrepancia dento-esqueletal severa, la que fue tratada mediante osteotomía Le Fort III modificada, osteotomías sagitales mandibulares para un avance máxilo-malar y retroceso mandibular respectivamente y una genioplastia de avance; logrando un resultado funcional y estético adecuado.

The dento-skeletal severe discrepancies present a challenge for the maxillofacial surgeon, there is a versatility of osteotomies for the different growth and development anomalies, however, a few of them make possible to improve malar projection. The modified Le Fort III osteotomy was originally used in patients with some craniofacial syndrome, but now it is a useful alternative for severe discrepancies in non-syndromic patients, since it allows a zygomatic-maxillary advance, favors malar projection and reduces scleral exposure with a limited number of complications. The case of a 33-year-old male patient with a history of orbitozygomatic fracture and left orbital floor with a severe dento-skeletal discrepancy is presented, who was treated by modified Le Fort III osteotomy, mandibular sagittal osteotomies for maxillo-malar advancement and retrogression mandibular respectively and geniplasty for advance; achieving a suitable functional and aesthetic result.

Molar-incisor hypomineralization and dental caries: A hierarchical approach in a populational-based study

Abstract The last couple of decades has seen an increasing interest in molar-incisor hypomineralization (MIH) studies. Hypomineralized defects can have several consequences such as hypersensitivity, increased dental plaque accumulation, and consequently higher caries risk. This cross-sectional study aimed to investigate the prevalence of MIH and its association with dental caries in schoolchildren from a city in southern Brazil. A random cluster sample of schoolchildren was selected. Clinical examinations were carried out to collect information on MIH (following the European Academy of Pediatric Dentistry criteria), dental caries (using the DMF-T index) and gingivitis. Socioeconomic, demographic and behavior variables were collected using a standardized questionnaire answered by the children's parents/caregivers. Prevalence ratios (PR) were estimated using Poisson regression analysis with robust variance through a hierarchical approach (p<0.05). A total of 513 schoolchildren were included in the study. MIH and caries prevalence was 19.7% and 31.6%, respectively. The mean age was 11.6 (+1.9) years. Dental caries was more prevalent in children with MIH (PR 1.39; 95% CI 1.05 - 1.85). Older children and children whose families were enrolled in conditional cash transference programs (PR 1.97 95% CI 1.47 - 2.64), and children who did not have their mother or father as the head of the family (PR 1.56 95% CI 1.06 - 2.30) presented a higher prevalence of dental caries. Our findings suggest that children with MIH are more likely to have dental caries.

Resumo Nas últimas duas décadas, observou-se um interesse crescente nos estudos de hipomineralização molar-incisivo (HMI). Os defeitos hipomineralizados podem ter várias consequências, como hipersensibilidade, aumento do acúmulo de placa dentária e, consequentemente, maior risco de cárie. Este estudo transversal teve como objetivo investigar a prevalência de HMI e sua associação com cárie dentária em escolares de um município do sul do Brasil. Uma amostra aleatória de alunos por conglomerado foi selecionada. Os exames clínicos foram realizados para coletar informações sobre HMI (seguindo os critérios da European Academy of Pediatric Dentistry), cárie dentária (usando o índice DMF-T) e gengivite. Variáveis socioeconômicas, demográficas e comportamentais foram coletadas por meio de um questionário padronizado respondido pelos pais / responsáveis pelas crianças. Razões de prevalência (RP) foram estimadas por meio de análise de regressão de Poisson com variância robusta por meio de abordagem hierárquica (p <0,05). Um total de 513 escolares foram incluídos no estudo. A prevalência de MIH e cárie foi de 19,7% e 31,6%, respectivamente. A média de idade foi de 11,6 (± 1,9) anos. A cárie dentária foi mais prevalente em crianças com HMI (RP 1,39; IC 95% 1,05 - 1,85). Crianças mais velhas e crianças cujas famílias estavam matriculadas em programas de transferência condicional de renda (RP 1,97 IC95% 1,47 - 2,64), e crianças que não tinham a mãe ou o pai como chefe da família (RP 1,56 IC95% 1,06 - 2,30) apresentaram maior prevalência de cárie dentária. Nossos resultados sugerem que crianças com HMI são mais propensas a ter cárie dentária.