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1.
Prensa méd. argent ; 107(8): 423-429, 20210000. ilus
Artigo em Inglês | LILACS | ID: biblio-1358770

RESUMO

El propósito del estudio fue analizar la dinámica de los cambios relacionados con la edad de las estructuras craneofaciales de acuerdo con los parámetros antropométricos en hombres y mujeres de 17 a 24 años, y determinar la correlación, definida por análisis antropométrico, entre las formas de morfología craneofacial y los tipos de anomalías dento-maxilares. Materiales y métodos: Se realizó un examen antropométrico de 851 individuos (418 hombres y 433 mujeres) de 17 a 24 años y la evaluación de 45 mediciones entre puntos de referencia de tejidos blandos. Además, se realizó una valoración odontológica general, que incluyó la clasificación de las anomalías dentomaxilares. Resultados: Se detectó que el ancho de la cabeza, el largo de la cabeza, así como el ancho de la mandíbula y el ancho morfológico facial en las hembras alcanzan valores máximos de crecimiento a la edad de 20 años. Además, se obtuvieron datos que indicaron la continuación del crecimiento de los parámetros antropométricos craneofaciales mencionados anteriormente en los hombres durante el período de transición de la adolescencia a la edad adulta. Conclusión: la mordida profunda distal es la anomalía dento-maxilar (DMAn) más común en hombres y mujeres bielorrusos de 17 a 24 años. Junto con esto, la frecuencia de ocurrencia de maloclusión de mordida profunda distal en individuos con morfología craneofacial dolicocefálica es mayor en hombres y mujeres en comparación con otras formas de morfología craneofacial. La mordida profunda distal se acompaña de la disminución de los parámetros antropométricos de la altura facial, en comparación con la mordida mesial y abierta en la que hay un aumento estadístico. Además, se observa una disminución estadística en el valor de la profundidad facial inferior en individuos diagnosticados con mordida distal, en comparación con individuos con mordida mesial y normal. Estos resultados obtenidos del análisis antropométrico podrían ser útiles en el diagnóstico de anomalías dentofaciales y dento-maxilares, y en la simulación de resultados de tratamiento estéticamente estables.


The purpose of the study was to analyze the dynamics of age-related changes of craniofacial structures according to anthropometric parameters in males and females aged 17­24 years, and to determine the correlation, defined by anthropometric analysis, between forms of craniofacial morphology and the type of dento-maxillary anomalies. Materials and Methods: An anthropometric examination of 851 individuals (418 males and 433 females) aged 17­24 years and the evaluation of 45 measurements between soft tissue landmarks was performed. In addition, general dental assessment was conducted, which included the classification of the dento-maxillary anomalies. Results: It was detected that the head width, head length, as well as the mandible width, and the morphological facial width in females reach growth peak values at the age of 20 years. Furthermore, data was obtained which indicated growth continuation of the stated above craniofacial anthropometric parameters in males during the transitional period from adolescence to adulthood. Conclusion: Distal deep bite is the most commonly prevailed dento-maxillary anomalies (DMAn) in Belarusian men and women aged 17­24 years. Along with this, the frequency of distal deep bite malocclusion occurrence in individuals with dolichocephalic craniofacial morphology is higher in men and women when compared to other forms of craniofacial morphology. Distal deep bite is accompanied by the decrease of facial height anthropometric parameters, when compared to mesial and open bite in which there is a statistical increase. Moreover, a statistical decrease in the value of the inferior facial depth is observed in individuals diagnosed with distal bite, when compared to individuals with mesial and normal bite. These obtained results from anthropometric analysis could be useful in diagnosis of dentofacial and dento-maxillary anomalies, and in the simulation of aesthetically stable treatment results


Assuntos
Humanos , Adolescente , Adulto , Pesos e Medidas Corporais , Antropometria , Cefalometria , Anormalidades Maxilofaciais , Mordida Aberta/fisiopatologia , Cabeça/crescimento & desenvolvimento , Fatores Etários
2.
Development ; 148(22)2021 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-35020873

RESUMO

The dynamics of multipotent neural crest cell differentiation and invasion as cells travel throughout the vertebrate embryo remain unclear. Here, we preserve spatial information to derive the transcriptional states of migrating neural crest cells and the cellular landscape of the first four chick cranial to cardiac branchial arches (BA1-4) using label-free, unsorted single-cell RNA sequencing. The faithful capture of branchial arch-specific genes led to identification of novel markers of migrating neural crest cells and 266 invasion genes common to all BA1-4 streams. Perturbation analysis of a small subset of invasion genes and time-lapse imaging identified their functional role to regulate neural crest cell behaviors. Comparison of the neural crest invasion signature to other cell invasion phenomena revealed a shared set of 45 genes, a subset of which showed direct relevance to human neuroblastoma cell lines analyzed after exposure to the in vivo chick embryonic neural crest microenvironment. Our data define an important spatio-temporal reference resource to address patterning of the vertebrate head and neck, and previously unidentified cell invasion genes with the potential for broad impact.


Assuntos
Região Branquial/crescimento & desenvolvimento , Cabeça/crescimento & desenvolvimento , Pescoço/crescimento & desenvolvimento , Crista Neural/crescimento & desenvolvimento , Animais , Padronização Corporal/genética , Região Branquial/embriologia , Diferenciação Celular/genética , Movimento Celular/genética , Microambiente Celular/genética , Embrião de Galinha , Embrião de Mamíferos , Embrião não Mamífero , Desenvolvimento Embrionário/genética , Cabeça/embriologia , Humanos , Mesoderma/crescimento & desenvolvimento , Células-Tronco Multipotentes/citologia , Pescoço/embriologia , Crista Neural/metabolismo , Neuroblastoma/genética , Neuroblastoma/patologia , Organogênese/genética , Microambiente Tumoral/genética , Vertebrados/genética , Vertebrados/crescimento & desenvolvimento
3.
Laryngoscope ; 131(4): 773-775, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32918752

RESUMO

OBJECTIVES/HYPOTHESIS: We have found no study assessing the accuracy of caliper cranium measurements compared to computed tomography (CT) measurements of the head. The objective of this study was to assess the reliability of caliper measurements in comparison to CT measurements. STUDY DESIGN: Retrospective chart review. METHODS: This study includes all patients evaluated for head shape abnormality between 2010 and 2019 at a single academic medical center. Eighty-nine patients who had CT head scans were identified, and their caliper measurements of anterior-posterior and transverse head dimensions were documented. RESULTS: There was no statistically significant difference between the CT and caliper measurements. CONCLUSION: Caliper measurements are a simple and reliable way to assess cranial vault proportionality with growth after cranial vault reconstruction. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:773-775, 2021.


Assuntos
Pesos e Medidas Corporais/métodos , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Cabeça/diagnóstico por imagem , Cabeça/crescimento & desenvolvimento , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
4.
CNS Spectr ; 26(5): 509-512, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-32605668

RESUMO

BACKGROUND: No relationship has been reported between nonopiate neonatal abstinence syndrome (NAS) and anthropometric indices, including head circumference (HC). The purpose of this study was to determine the relationship between maternal nonopioid drug use and HC at birth in neonates with NAS. METHODS: This retrospective observational study included neonates born between January 1, 2010 and March 31, 2019, whose mothers had been taking antipsychotic, antidepressant, sedative, or anticonvulsant medications. The outcome measures were HCs of NAS infants and controls. RESULTS: Of 159 infants, 33 (21%) were diagnosed with NAS. There was no maternal opioid use among mothers during pregnancy. The HCs in the NAS group were significantly smaller than those in the control group. The median z-scores for HC at birth were -0.20 and 0.29 in the NAS group and the control group, respectively (P = .011). The median HCs at birth were 33.0 and 33.5 cm in the NAS group and the control group, respectively. Multivariate analysis revealed that maternal antipsychotic drug use and selective serotonin reuptake inhibitors were independently associated with NAS (P < .001 and P = .004, respectively). Notably, benzodiazepine use and smoking were not independent risk factors. CONCLUSIONS: The results suggest an association between maternal antipsychotic drug use and NAS, which was further associated with decreased HC. Careful monitoring of maternal drug use should be considered to improve fetal outcomes.


Assuntos
Cabeça/crescimento & desenvolvimento , Síndrome de Abstinência Neonatal/patologia , Adulto , Anticonvulsivantes/efeitos adversos , Antidepressivos/efeitos adversos , Antipsicóticos/efeitos adversos , Feminino , Humanos , Hipnóticos e Sedativos/efeitos adversos , Recém-Nascido , Masculino , Síndrome de Abstinência Neonatal/etiologia
5.
Bull Exp Biol Med ; 170(1): 58-63, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33237527

RESUMO

Mutations in pank2 gene encoding pantothenate kinase 2 determine a pantothenate kinase-associated neurodegeneration, a rare disorder characterized by iron deposition in the globus pallidus. To extend our previous work, we performed microinjections of a new pank2-specific morpholino to zebrafish embryos and thoroughly analyzed vasculature development. Vessels development was severely perturbed in the head, trunk, and tail, where blood accumulation was remarkable and associated with dilation of the posterior cardinal vein. This phenotype was specific as confirmed by p53 expression analysis and injection of the same morpholino in pank2-mutant embryos. We can conclude that pank2 gene is involved in vasculature development in zebrafish embryos. The comprehension of the underlining mechanisms could be of relevance for understanding of pantothenate kinase-associated neurodegeneration.


Assuntos
Vasos Sanguíneos/metabolismo , Coenzima A/farmacologia , Globo Pálido/metabolismo , Neurodegeneração Associada a Pantotenato-Quinase/prevenção & controle , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Animais , Vasos Sanguíneos/crescimento & desenvolvimento , Vasos Sanguíneos/patologia , Modelos Animais de Doenças , Embrião não Mamífero , Regulação da Expressão Gênica no Desenvolvimento , Globo Pálido/irrigação sanguínea , Globo Pálido/efeitos dos fármacos , Globo Pálido/patologia , Cabeça/irrigação sanguínea , Cabeça/crescimento & desenvolvimento , Humanos , Morfolinos/administração & dosagem , Morfolinos/genética , Morfolinos/metabolismo , Neurodegeneração Associada a Pantotenato-Quinase/genética , Neurodegeneração Associada a Pantotenato-Quinase/metabolismo , Neurodegeneração Associada a Pantotenato-Quinase/patologia , Fosfotransferases (Aceptor do Grupo Álcool)/antagonistas & inibidores , Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo , Cauda/irrigação sanguínea , Cauda/crescimento & desenvolvimento , Cauda/metabolismo , Tronco/irrigação sanguínea , Tronco/crescimento & desenvolvimento , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Peixe-Zebra
6.
Cochrane Database Syst Rev ; 11: CD013465, 2020 11 23.
Artigo em Inglês | MEDLINE | ID: mdl-33226632

RESUMO

BACKGROUND: Human milk as compared to formula reduces morbidity in preterm infants but requires fortification to meet their nutritional needs and to reduce the risk of extrauterine growth failure. Standard fortification methods are not individualized to the infant and assume that breast milk is uniform in nutritional content. Strategies for individualizing fortification are available; however it is not known whether these are safe, or if they improve outcomes in preterm infants. OBJECTIVES: To determine whether individualizing fortification of breast milk feeds in response to infant blood urea nitrogen (adjustable fortification) or to breast milk macronutrient content as measured with a milk analyzer (targeted fortification) reduces mortality and morbidity and promotes growth and development compared to standard, non-individualized fortification for preterm infants receiving human milk at < 37 weeks' gestation or at birth weight < 2500 grams. SEARCH METHODS: We used the standard search strategy of Cochrane Neonatal to search the Cochrane Central Register of Controlled Trials (CENTRAL; 2019, Issue 9), in the Cochrane Library; Ovid MEDLINE(R) and Epub Ahead of Print, In-Process & Other Non-Indexed Citations, Daily and Versions(R); and the Cumulative Index to Nursing and Allied Health Literature (CINAHL), on September 20, 2019. We also searched clinical trials databases and the reference lists of retrieved articles for pertinent randomized controlled trials (RCTs) and quasi-randomized trials. SELECTION CRITERIA: We considered randomized, quasi-randomized, and cluster-randomized controlled trials of preterm infants fed exclusively breast milk that compared a standard non-individualized fortification strategy to individualized fortification using a targeted or adjustable strategy. We considered studies that examined any use of fortification in eligible infants for a minimum duration of two weeks, initiated at any time during enteral feeding, and providing any regimen of human milk feeding. DATA COLLECTION AND ANALYSIS: Data were collected using the standard methods of Cochrane Neonatal. Two review authors evaluated the quality of the studies and extracted data. We reported analyses of continuous data using mean differences (MDs), and dichotomous data using risk ratios (RRs). We used the GRADE approach to assess the certainty of evidence. MAIN RESULTS: Data were extracted from seven RCTs, resulting in eight publications (521 total participants were enrolled among these studies), with duration of study interventions ranging from two to seven weeks. As compared to standard non-individualized fortification, individualized (targeted or adjustable) fortification of enteral feeds probably increased weight gain during the intervention (typical mean difference [MD] 1.88 g/kg/d, 95% confidence interval [CI] 1.26 to 2.50; 6 studies, 345 participants), may have increased length gain during the intervention (typical MD 0.43 mm/d, 95% CI 0.32 to 0.53; 5 studies, 242 participants), and may have increased head circumference gain during the intervention (typical MD 0.14 mm/d, 95% CI 0.06 to 0.23; 5 studies, 242 participants). Compared to standard non-individualized fortification, targeted fortification probably increased weight gain during the intervention (typical MD 1.87 g/kg/d, 95% CI 1.15 to 2.58; 4 studies, 269 participants) and may have increased length gain during the intervention (typical MD 0.45 mm/d, 95% CI 0.32 to 0.57; 3 studies, 166 participants). Adjustable fortification probably increased weight gain during the intervention (typical MD 2.86 g/kg/d, 95% CI 1.69 to 4.03; 3 studies, 96 participants), probably increased gain in length during the intervention (typical MD 0.54 mm/d, 95% CI 0.38 to 0.7; 3 studies, 96 participants), and increased gain in head circumference during the intervention (typical MD 0.36 mm/d, 95% CI 0.21 to 0.5; 3 studies, 96 participants). We are uncertain whether there are differences between individualized versus standard fortification strategies in the incidence of in-hospital mortality, bronchopulmonary dysplasia, necrotizing enterocolitis, culture-proven late-onset bacterial sepsis, retinopathy of prematurity, osteopenia, length of hospital stay, or post-hospital discharge growth. No study reported severe neurodevelopmental disability as an outcome. One study that was published after our literature search was completed is awaiting classification. AUTHORS' CONCLUSIONS: We found moderate- to low-certainty evidence suggesting that individualized (either targeted or adjustable) fortification of enteral feeds in very low birth weight infants increases growth velocity of weight, length, and head circumference during the intervention compared with standard non-individualized fortification. Evidence showing important in-hospital and post-discharge clinical outcomes was sparse and of very low certainty, precluding inferences regarding safety or clinical benefits beyond short-term growth.


Assuntos
Desenvolvimento Infantil/fisiologia , Alimentos Fortificados , Fórmulas Infantis , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Leite Humano , Viés , Nitrogênio da Ureia Sanguínea , Estatura , Doenças Ósseas Metabólicas/epidemiologia , Intervalos de Confiança , Nutrição Enteral , Enterocolite Necrosante/epidemiologia , Cabeça/anatomia & histologia , Cabeça/crescimento & desenvolvimento , Humanos , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Ensaios Clínicos Controlados Aleatórios como Assunto , Retinopatia da Prematuridade/epidemiologia , Aumento de Peso
7.
Int. j. med. surg. sci. (Print) ; 7(1): 34-42, mar. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1179292

RESUMO

Anthropometric studies began as a methodology in biological anthropology for comparing of the anthropological features of the today's nations and previous nations too, as well as in screening and diagnosing of malnutrition. It is evident that a large number of studies have been performed on measures of body height, weight, trunk and limb dimensions, subcutaneous fatness and body composition, etc., but less attention has been paid to cephalofacial measurements. The purpose of this research was to study and explain the latent structure of the humans' cephalofacial variables.On 754 healthy entities (561 male entities and 193 female entities), aged 18-35 years, were measured 11 cephalofacial variables. The collected data were analyzed through descriptive parameters, Correlation analysis, and Factorial analyses. Correlation analysis confirms the existing of some variables' sets, which are characterized with the higher correlations between variables within the set. Through the principal component analysis of the Factor Analysis (rotation method direct obliging, Keiser criterion) were extracted four latent factors which explain 66.39 % of the total variance: Factor of intracranial capacity; Transversal factor of the face; Longitudinal factor of the face.Conclusion: The composition of the extracted factors was compatible with the scientific explanation of the anthropologists regarding the development of the head.


Los estudios antropométricos comenzaron como una metodología en antropología biológica para comparar las características antropológicas de las naciones modernas y también de las naciones en la antigüedad, así como para el cribado y diagnóstico de desnutrición. Se han realizado una gran cantidad de estudios sobre medidas de altura corporal, peso, dimensiones del tronco y las extremidades, grasa subcutánea y composición corporal, etc., pero se ha prestado menos atención a las medidas cefalofaciales. El propósito de esta investigación fue estudiar y explicar la estructura latente de las variables cefalofaciales de los humanos. Se midieron 11 variables cefalofaciales en 754 sujetos sanos (561 hombres y 193 mujeres), de 18 a 35 años. Los datos recolectados fueron analizados mediante parámetros descriptivos, análisis de correlación y análisis factoriales. El análisis de correlación confirma la existencia de algunos conjuntos de variables, que se caracterizan por tener las correlaciones más altas entre las variables dentro del conjunto. Mediante el análisis de componentes principales del Análisis Factorial se extrajeron cuatro factores latentes que explican el 66,39% de la varianza total: Factor de capacidad intracraneal; Factor transversal de la cara; Factor longitudinal del rostro. Conclusión: La composición de los factores extraídos fue compatible con la explicación científica de los antropólogos sobre el desarrollo de la cabeza.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Antropometria , Cefalometria , Albânia , Kosovo , Cabeça/crescimento & desenvolvimento
8.
Clin Genet ; 97(2): 338-346, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31674007

RESUMO

The genotype-first approach has been successfully applied and has elucidated several subtypes of autism spectrum disorder (ASD). However, it requires very large cohorts because of the extensive genetic heterogeneity. We investigate the alternate possibility of whether phenotype-specific genes can be identified from a small group of patients with specific phenotype(s). To identify novel genes associated with ASD and abnormal head circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with ASD and abnormal head circumference. Clinically relevant pathogenic or likely pathogenic variants account for 23.9% of patients with microcephaly or macrocephaly, and 81.25% of those variants or genes are head-size associated. Significantly, recurrent pathogenic mutations were identified in two macrocephaly genes (PTEN, CHD8) in this small cohort. De novo mutations in several candidate genes (UBN2, BIRC6, SYNE1, and KCNMA1) were detected, as well as one new candidate gene (TNPO3) implicated in ASD and related neurodevelopmental disorders. We identify genotype-phenotype correlations for head-size-associated ASD genes and novel candidate genes for further investigation. Our results also suggest a phenotype-to-genotype strategy would accelerate the elucidation of genotype-phenotype relationships for ASD by using phenotype-restricted cohorts.


Assuntos
Transtorno do Espectro Autista/genética , Estudos de Associação Genética/métodos , Predisposição Genética para Doença/genética , Cabeça/crescimento & desenvolvimento , Transtorno do Espectro Autista/sangue , Transtorno do Espectro Autista/complicações , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Proteínas de Ligação a DNA/genética , Feminino , Genótipo , Cabeça/anatomia & histologia , Humanos , Mutação INDEL , Proteínas Inibidoras de Apoptose/genética , Subunidades alfa do Canal de Potássio Ativado por Cálcio de Condutância Alta/genética , Masculino , Megalencefalia/complicações , Megalencefalia/genética , Microcefalia/complicações , Microcefalia/genética , Proteínas do Tecido Nervoso/genética , PTEN Fosfo-Hidrolase/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Sequenciamento do Exoma , beta Carioferinas/genética
9.
PLoS One ; 14(11): e0222399, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31751344

RESUMO

BACKGROUND: Maternal physical and mental health during pregnancy are key determinants of birth outcomes. There are relatively few prospective data that integrate physical and mental maternal health measures with birth outcomes in low- and middle-income country settings. We aimed to investigate maternal health during pregnancy and the impact on birth outcomes in an African birth cohort study, the Drakenstein Child Health Study. METHODS: Pregnant women attending 2 public health clinics, Mbekweni (serving a predominantly black African population) and TC Newman (predominantly mixed ancestry) in a poor peri-urban area of South Africa were enrolled in their second trimester and followed through childbirth. All births occurred at a single public hospital. Maternal sociodemographic, physical and psychosocial characteristics were comprehensively assessed. Multivariable linear regression models were used to explore associations between maternal health and birth outcomes. RESULTS: Over 3 years, 1137 women (median age 25.8 years; 21% HIV-infected) gave birth to 1143 live babies. Most pregnancies were uncomplicated but gestational diabetes (1%), anaemia (22%) or pre-eclampsia (2%) occurred in a minority. Most households (87%) had a monthly income of less than USD 350; only 27% of moms were employed and food insecurity was common (37%). Most babies (80%) were born by vaginal delivery at full term; 17% were preterm, predominantly late preterm. Only 74 (7%) of babies required hospitalisation immediately after birth and only 2 babies were HIV-infected. Food insecurity, socioeconomic status, pregnancy-associated hypertension, pre-eclampsia, gestational diabetes and mixed ancestry were associated with lower infant gestational age while maternal BMI at enrolment was associated with higher infant gestational age. Primigravida or alcohol use during pregnancy were negatively associated with infant birth weight and head circumference. Maternal BMI at enrolment was positively associated with birth weight and gestational diabetes was positively associated with birth weight and head circumference for gestational age. Smoking during pregnancy was associated with lower infant birth weight. CONCLUSION: Several modifiable risk factors including food insecurity, smoking, and alcohol consumption during pregnancy were identified as associated with negative birth outcomes, all of which are amenable to public health interventions. Interventions to address key exposures influencing birth outcomes are needed to improve maternal and child health in low-middle income country settings.


Assuntos
Saúde Materna , Resultado da Gravidez , Adulto , Peso ao Nascer , Feminino , Abastecimento de Alimentos , Infecções por HIV/epidemiologia , Cabeça/anatomia & histologia , Cabeça/crescimento & desenvolvimento , Humanos , Recém-Nascido , Estudos Longitudinais , Transtornos Mentais/epidemiologia , Tamanho do Órgão , Gravidez , Complicações na Gravidez/epidemiologia , Estudos Prospectivos , Fatores de Risco , Fatores Socioeconômicos , África do Sul/epidemiologia , Adulto Jovem
10.
Rev. ADM ; 76(3): 156-161, mayo-jun. 2019. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1022128

RESUMO

Durante el crecimiento y desarrollo de la cabeza, ésta lo hace en diferentes direcciones y proporciones, habiendo un límite entre la armonía /desarmonía conocido como umbral. Se hace referencia a este concepto, la forma de escribirlo y leerlo por medio de un código que lo simboliza. Objetivo: Poner al alcance de la comunidad médica un código de lectura e identificación de fenotipos craneofaciales sindrómicos y no sindrómicos. Conclusiones: Se considera que este concepto de umbral craneofacial y su código de lectura pueden ser usados en la enseñanza e investigación de la armonía-desarmonía durante el crecimiento y desarrollo de la cabeza, resultando ser de gran utilidad en la comprensión rápida y sencilla de la lectura del fenotipo craneofacial (AU)


During the growth and development of the head, it does so in different directions and proportions, there being a limit between the harmony / disharmony known as threshold. Reference is made to this concept, the way of writing it and reading it by means of a code that symbolizes it. Objective: To put within reach of the medical community, a code of reading and identification of syndromic and non-syndromic craniofacial phenotypes. Conclusions: It is considered that this concept of a craniofacial threshold and its reading code can be used in the teaching and research of harmony / disharmony during the growth and development of the head, being very useful in the quick and easy comprehension of the reading of the craniofacial phenotype (AU)


Assuntos
Humanos , Fenótipo , Herança Multifatorial , Desenvolvimento Maxilofacial , Prognatismo , Retrognatismo , Cefalometria , Anormalidades Craniofaciais/classificação , Códigos Civis , Estudos de Associação Genética , Cabeça/crescimento & desenvolvimento , Má Oclusão/classificação
11.
Environ Health Perspect ; 127(1): 17006, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30676078

RESUMO

BACKGROUND: Higher concentrations of single perfluorinated alkyl acids (PFAAs) have been associated with lower birth weight (BW), but few studies have examined the combined effects of PFAA mixtures. PFAAs have been reported to induce estrogen receptor (ER) transactivity, and estrogens may influence human fetal growth. We hypothesize that mixtures of PFAAs may affect human fetal growth by disrupting the ER. OBJECTIVES: We aimed to study the associations between the combined xenoestrogenic activity of PFAAs in pregnant women's serum and offspring BW, length, and head circumference. METHODS: We extracted the actual mixture of PFAAs from the serum of 702 Danish pregnant women (gestational wk 11­13) enrolled in the Aarhus Birth Cohort (ABC) using solid phase extraction, high-performance liquid chromatography (HPLC), and weak anion exchange. PFAA-induced xenoestrogenic receptor transactivation (XER) was determined using the stable transfected MVLN cell line. Associations between XER and measures of fetal growth were estimated using multivariable linear regression with primary adjustment for maternal age, body mass index (BMI), educational level, smoking, and alcohol intake, and sensitivity analyses with additional adjustment for gestational age (GA) (linear and quadratic). RESULTS: On average, an interquartile range (IQR) increase in XER was associated with a [Formula: see text] [95% confidence interval (CI): [Formula: see text], [Formula: see text]] decrease in BW and a [Formula: see text] (95% CI: 0.1, 0.5) decrease in birth length. Upon additional adjustment for GA, the estimated mean differences were [Formula: see text] (95% CI: [Formula: see text], 4) and [Formula: see text] (95% CI: [Formula: see text], 0.0), respectively. CONCLUSION: Higher-serum PFAA-induced xenoestrogenic activities were associated with lower BW and length in offspring, suggesting that PFAA mixtures may affect fetal growth by disrupting ER function. https://doi.org/10.1289/EHP1884.


Assuntos
Disruptores Endócrinos/efeitos adversos , Desenvolvimento Fetal/efeitos dos fármacos , Fluorocarbonos/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal , Receptores de Estrogênio/metabolismo , Adulto , Peso ao Nascer/efeitos dos fármacos , Tamanho Corporal/efeitos dos fármacos , Linhagem Celular Tumoral , Estudos de Coortes , Dinamarca/epidemiologia , Feminino , Fluorocarbonos/sangue , Cabeça/crescimento & desenvolvimento , Humanos , Recém-Nascido , Masculino , Gravidez/sangue , Ativação Transcricional , Transfecção
12.
Nat Commun ; 10(1): 312, 2019 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-30659200

RESUMO

Polyps of the cnidarian Hydra maintain their adult anatomy through two developmental organizers, the head organizer located apically and the foot organizer basally. The head organizer is made of two antagonistic cross-reacting components, an activator, driving apical differentiation and an inhibitor, preventing ectopic head formation. Here we characterize the head inhibitor by comparing planarian genes down-regulated when ß-catenin is silenced to Hydra genes displaying a graded apical-to-basal expression and an up-regulation during head regeneration. We identify Sp5 as a transcription factor that fulfills the head inhibitor properties: leading to a robust multiheaded phenotype when knocked-down in Hydra, acting as a transcriptional repressor of Wnt3 and positively regulated by Wnt/ß-catenin signaling. Hydra and zebrafish Sp5 repress Wnt3 promoter activity while Hydra Sp5 also activates its own expression, likely via ß-catenin/TCF interaction. This work identifies Sp5 as a potent feedback loop inhibitor of Wnt/ß-catenin signaling, a function conserved across eumetazoan evolution.


Assuntos
Hydra/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteína Wnt3/genética , beta Catenina/genética , Animais , Evolução Biológica , Padronização Corporal/genética , Regulação da Expressão Gênica no Desenvolvimento , Cabeça/crescimento & desenvolvimento , Cabeça/fisiologia , Hydra/crescimento & desenvolvimento , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Planárias/genética , Interferência de RNA , Regeneração/fisiologia , Transdução de Sinais , Proteína Wnt3/metabolismo , Peixe-Zebra/embriologia , Peixe-Zebra/genética , beta Catenina/metabolismo
13.
Ann Hum Biol ; 45(5): 401-405, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30328722

RESUMO

BACKGROUND: Maternal smoking during pregnancy has been recognised as a detrimental factor associated with adverse perinatal outcomes; however, to date there is a dearth of information on how it affects post-natal head growth and shape. AIM: To assess the relationship between parental smoking exposure during pregnancy and head dimensions and shape at age 7-10 years in boys and girls. METHODS: Body height and head length, breadth and circumference were measured. Birth weight and gestational age were obtained from the children's medical record books. Parental smoking habits during pregnancy and maternal educational attainment were obtained by a questionnaire. The relationship between exposure to parental smoking during pregnancy and head dimensions was evaluated using analysis of covariance implemented in the Generalized Linear Model, separately for each sex. RESULTS: Maternal and parental smoking during pregnancy significantly altered head shape in boys by affecting head length, while neither head breadth nor circumference were affected. This phenomenon was not observed in girls. CONCLUSION: Smoking-induced chronic hypoxic effects on the growing foetus, indicated that both active and passive smoking during pregnancy seems to have persistent negative effects on children, going beyond foetal development and pre-natal growth restrictions.


Assuntos
Cabeça/crescimento & desenvolvimento , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Poluição por Fumaça de Tabaco/estatística & dados numéricos , Criança , Feminino , Cabeça/anatomia & histologia , Humanos , Modelos Lineares , Masculino , Tamanho do Órgão/efeitos dos fármacos , Pais , Polônia/epidemiologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Fatores Sexuais , Fumar/epidemiologia
14.
J Genet ; 97(4): 911-924, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30262703

RESUMO

Our previous study based on the transcriptome profiling indicated that a fragment of α-crystallin type heat shock protein (α-Hsp) gene was one of the numerous cDNA sequences expressed differentially at various stages of head regeneration in Hydra vulgaris. To further investigate the role that which α-Hsp plays during hydra regeneration, a full-length cDNA of α-Hsp gene of H. vulgaris was isolated by the rapid amplification of cDNA ends (RACE) technique. The full-length cDNA of α-Hsp gene was 1156 bp, containing a 765 bp open-reading frame (ORF), which encodes a polypeptide of 254 amino acid residues with a molecular weight of 29.27 kDa. Further, the ORF was subcloned into the plasmid pET-42a(+), and the recombinant plasmid pET-42a(+)-α- Hsp was transformed to Escherichia coli BL21(DE3), then the fusion protein GST-α-Hsp was expressed mainly in the form of a soluble molecule after induction by isopropyl-ß-d-thiogalactopyranoside. In addition, BALB/Cmice were immunized with the fusion protein to prepare the polyclonal antiserum which was used as the primary antibody for whole-mount immunohistochemical assay. The results from the immunohistochemical assay showed that α-Hsp had expressedmainly at the wound site and nearby area of hydra after decapitation operation, and both quantitative real-time polymerase chain reaction (qPCR) analysis and immunohistochemical assay revealed that the expression level of α-Hsp increased gradually during the early period of hydra regeneration, then reached a peak at 24 h after decapitation operation, while decreased during the late regeneration period. Moreover, it indicated an important role of α-Hsp gene in hydra head regeneration that RNA interference (RNAi)-mediated α-Hsp silencing led to the obvious delay of the regeneration of head structures in H. vulgaris. In conclusion, our results gave the hint that α-Hsp could be related to wound healing and tissue remodelling at early regeneration stages, and may lay the foundation for further studies about the physiological function and role of α-Hsp during hydra regeneration.


Assuntos
Cabeça/crescimento & desenvolvimento , Hydra/genética , Regeneração/genética , alfa-Cristalinas/genética , Sequência de Aminoácidos/genética , Animais , Clonagem Molecular , DNA Complementar/genética , Perfilação da Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento/genética , Proteínas de Choque Térmico/genética , Hydra/crescimento & desenvolvimento
15.
J Craniomaxillofac Surg ; 46(6): 987-993, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29709329

RESUMO

PURPOSE: In the first months of life, any deviation from a physiological growth pattern can cause skull deformity. As there has not been any longitudinal three-dimensional (3D) study investigating the physiological growth of the infant skull, the aim of the present study was to acquire such data. MATERIALS AND METHODS: We performed 3D stereophotogrammetric scans of 40 infants without cranial asymmetry at four regular 2-month intervals from the 4th to the 10th month of age. Six growth-related parameters (circumference, length, width, height, cephalic index [CI; width-length ratio] and total head volume) were used to analyse skull growth longitudinally. RESULTS: With exception of the CI, all parameters showed significant increases, with maximum percentage growth from the 4th to the 6th month. The CI initially remained unchanged until the 6th month, before showing a significant reduction that continued throughout the study period. Male infants had larger heads than female infants, but a similar width-length ratio at all measurement times. CONCLUSION: This prospective study is the first longitudinal 3D analysis to examine the physiological growth dynamics of infants' heads within the first months of life. Understanding patterns of skull growth in all three dimensions is important for gaining further insights into physiological and pathophysiological skull development.


Assuntos
Imageamento Tridimensional/métodos , Crânio/anatomia & histologia , Crânio/crescimento & desenvolvimento , Feminino , Cabeça/anatomia & histologia , Cabeça/crescimento & desenvolvimento , Humanos , Lactente , Estudos Longitudinais , Masculino , Fotogrametria/métodos , Plagiocefalia não Sinostótica/diagnóstico por imagem , Estudos Prospectivos
16.
J. pediatr. (Rio J.) ; 94(2): 123-130, Mar.-Apr. 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-894118

RESUMO

Abstract Objective The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing and oral breathing children and teenagers with a normal facial growth pattern. Method Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated. They were classified as either nasal breathing or oral breathing patients according to the predominant mode of breathing through clinical and historical evaluation, and breathing respiratory rate predomination as quantified by an airflow sensor. They were divided in two age groups (G1: 7-9) (G2: 10-16) to account for normal age-related facial growth. Results Oral breathing children (8.0 ± 0.7 years) showed less nasopharyngeal cross-sectional dimension (MPP) (p = 0.030), whereas other structures were similar to their nasal breathing counterparts (7.6 ± 0.9 years). However, oral breathing teenagers (12.3 ± 2.0 years) exhibited a greater palate length (ANS-PNS) (p = 0.049), a higher vertical dimension in the lower anterior face (Xi-ANS-Pm) (p = 0.015), and a lower position of the hyoid bone with respect to the mandibular plane (H-MP) (p = 0.017) than their nasal breathing counterparts (12.5 ± 1.9 years). No statistically significant differences were found in head posture. Conclusion Even in individuals with a normal facial growth pattern, when compared with nasal breathing individuals, oral breathing children present differences in airway dimensions. Among adolescents, these dissimilarities include structures in the facial development and hyoid bone position.


Resumo Objetivo A incidência da respiração anormal e de suas consequências no desenvolvimento craniofacial aumenta e não é limitada a crianças com fácies adenoideanas. O objetivo deste estudo foi avaliar as diferenças cefalométricas nas estruturas craniofaciais e na postura da cabeça entre crianças e adolescentes com respiração nasal e respiração bucal com padrão de crescimento facial normal. Método 98 pacientes com idades entre 7-16 anos com padrão de crescimento facial normal foram avaliados de forma clínica e radiológica. Eles foram classificados como pacientes com respiração nasal ou respiração bucal de acordo com a predominância do modo de respiração por meio da avaliação clínica e histórica e da predominância da frequência respiratória conforme qualificado por um sensor de fluxo de ar. Os pacientes foram divididos em duas faixas etárias (G1: 7 a 9) (G2: 10 a 16) para contabilizar o crescimento normal facial relacionado à idade. Resultados As crianças com respiração bucal (8,0 ± 0,7 anos) mostraram menor dimensão transversal nasofaríngea (MPP) (p = 0,030), ao passo que outras estruturas foram semelhantes a seus pares com respiração nasal (7,6 ± 0,9 anos). Contudo, os adolescentes com respiração bucal (12,3 ± 2,0 anos) mostraram maior comprimento do palato (espinha nasal anterior-espinha nasal posterior [ENA-ENP]) (p = 0,049), maior dimensão vertical na menor face anterior (Xi-ENA-Pm) (p = 0,015) e menor posição do osso hioide a respeito do plano mandibular (H-PM) (p = 0,017) do que seus pares com respiração nasal (12,5 ± 1,9 anos). Não foram constatadas diferenças estatisticamente significativas na postura da cabeça. Conclusão Mesmo em indivíduos com padrão de crescimento facial normal, em comparação com indivíduos com respiração nasal, as crianças com respiração bucal apresentam diferenças nas dimensões das vias aéreas. Entre os adolescentes, essas dissimilaridades incluem estruturas no desenvolvimento facial e na posição do osso hioide.


Assuntos
Humanos , Masculino , Feminino , Criança , Postura/fisiologia , Respiração , Ossos Faciais/crescimento & desenvolvimento , Cabeça/crescimento & desenvolvimento , Respiração Bucal/fisiopatologia , Cefalometria , Ossos Faciais/anatomia & histologia , Cabeça/anatomia & histologia
17.
Prenat Diagn ; 38(3): 173-178, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29314091

RESUMO

OBJECTIVE: To determine the relationship between preoperative fetal head circumference (HC) and cognitive performance among children treated with laser surgery for twin-twin transfusion syndrome (TTTS). METHODS: Donor and recipient twin HCs were measured preoperatively (16-26 weeks' gestation) and at 2 years corrected age. Multilevel multivariate regression models were used to test pregnancy and child-level risk factors for lower Battelle Developmental Inventory Second Edition (BDI-2) scores. A repeated-measures ANOVA was used to examine HC growth among recipients and donors between preoperative and 2 years. RESULTS: Ninety-nine children were evaluated. The average BDI-2 score for the cohort was 101.4 (SD = 12.2). After controlling for covariates, larger preoperative HC percentiles were significantly associated with an increase in total BDI-2 scores (ß = 0.29; P < 0.001), where a 12.5% increase in preoperative HC percentile was associated with 1-point increase in total BDI-2 score. The mean recipient and donor twin HC percentiles preoperatively and at age 2 years were 51st percentile vs 20th percentile (P = .050) and 60th percentile vs 49th percentile (P = .676), respectively. CONCLUSION: Smaller preoperative HC percentiles identified children at risk of lower, but still within normal range, total BDI-2 scores. The discordance in HC percentiles between the donor and recipient twin decreased after laser surgery.


Assuntos
Cognição , Transfusão Feto-Fetal/cirurgia , Cabeça/crescimento & desenvolvimento , Pré-Escolar , Feminino , Terapias Fetais , Transfusão Feto-Fetal/diagnóstico por imagem , Seguimentos , Cabeça/diagnóstico por imagem , Humanos , Terapia a Laser , Masculino , Gravidez , Ultrassonografia Pré-Natal
18.
J Pediatr (Rio J) ; 94(2): 123-130, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28818510

RESUMO

OBJECTIVE: The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing and oral breathing children and teenagers with a normal facial growth pattern. METHOD: Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated. They were classified as either nasal breathing or oral breathing patients according to the predominant mode of breathing through clinical and historical evaluation, and breathing respiratory rate predomination as quantified by an airflow sensor. They were divided in two age groups (G1: 7-9) (G2: 10-16) to account for normal age-related facial growth. RESULTS: Oral breathing children (8.0±0.7 years) showed less nasopharyngeal cross-sectional dimension (MPP) (p=0.030), whereas other structures were similar to their nasal breathing counterparts (7.6±0.9 years). However, oral breathing teenagers (12.3±2.0 years) exhibited a greater palate length (ANS-PNS) (p=0.049), a higher vertical dimension in the lower anterior face (Xi-ANS-Pm) (p=0.015), and a lower position of the hyoid bone with respect to the mandibular plane (H-MP) (p=0.017) than their nasal breathing counterparts (12.5±1.9 years). No statistically significant differences were found in head posture. CONCLUSION: Even in individuals with a normal facial growth pattern, when compared with nasal breathing individuals, oral breathing children present differences in airway dimensions. Among adolescents, these dissimilarities include structures in the facial development and hyoid bone position.


Assuntos
Ossos Faciais/crescimento & desenvolvimento , Cabeça/crescimento & desenvolvimento , Respiração Bucal/fisiopatologia , Postura/fisiologia , Respiração , Cefalometria , Criança , Ossos Faciais/anatomia & histologia , Feminino , Cabeça/anatomia & histologia , Humanos , Masculino
19.
J Pediatr ; 192: 136-143.e4, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29246335

RESUMO

OBJECTIVES: Somatic development is impaired in children with congenital heart defects (CHDs), and head circumference seems to be a strong predictor of neurodevelopmental prognosis. The aim of this study was to generate up-to-date reference values for the somatic development (head circumference, body weight, and length/height) of children with CHDs. STUDY DESIGN: Our study population consisted of all patients included in the PAN study (Prävalenz angeborener Herzfehler bei Neugeborenen in Deutschland), which was conducted prospectively over a 3-year study period by the Competence Network for Congenital Heart Defects. All children with mild, moderate, and severe CHDs born in 2006-2009 in Germany were enrolled. For computing of z-scores, only children with the following characteristics were included: appropriate for gestational age, nonsyndromic disease, term or post-term delivery, and no cardiac surgery. RESULTS: There were 2818 patients included. New z-scores for the described somatic measures of children with mild, moderate, and severe CHDs were computed. Comparisons with the KiGGS study (Gesundheit von Kindern und Jugendlichen in Deutschland) and the Berlin Longitudinal Study revealed significantly lower measurements for all measures-most notably in children with severe CHDs and/or cardiac surgery. In our cohort, no catch-up growth was seen after cardiac surgery. CONCLUSION: Children with severe CHDs demonstrated the most abnormal pattern in growth, including head circumference before and after cardiac surgery, which is indicative of accompanying brain pathology unrelated to operative injury.


Assuntos
Estatura/fisiologia , Peso Corporal/fisiologia , Desenvolvimento Infantil/fisiologia , Cabeça/crescimento & desenvolvimento , Cardiopatias Congênitas/fisiopatologia , Cefalometria , Pré-Escolar , Feminino , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Estudos Longitudinais , Masculino , Estudos Prospectivos , Valores de Referência
20.
Braz. oral res. (Online) ; 32: e98, 2018. tab, graf
Artigo em Inglês | LILACS | ID: biblio-974447

RESUMO

Abstract The aim of this article was to evaluate the influence of biological and sociobehavioral factors on the development of malocclusions in children. This is a cross-sectional study nested in a cohort of 350 children who participated in a community intervention study. After six years, an active search identified 290 children with occlusal abnormalities. Socioeconomic status, linear growth, and nutritional status of the child at birth and at the time of measurement, as well as dietary and sucking habits, were investigated. Malocclusions were evaluated across three spatial planes - anteroposterior, vertical, and transverse. The prevalence of these anomalies was 64.5%, primarily in the anteroposterior plane. The logistic regression analysis revealed that pacifier use for 60 months or more, stunting as measured at age six, and reduced gain in head circumference from birth to six years of age, were significantly associated with the development of malocclusion in childhood. Head circumference and linear growth are associated with occlusal anomalies in infants, independent of pacifier sucking.


Assuntos
Humanos , Masculino , Feminino , Criança , Comportamento de Sucção/fisiologia , Desenvolvimento Infantil/efeitos dos fármacos , Estado Nutricional/fisiologia , Comportamento Alimentar/fisiologia , Cabeça/crescimento & desenvolvimento , Má Oclusão/etiologia , Fatores Socioeconômicos , Fatores de Tempo , Peso ao Nascer , Brasil/epidemiologia , Aleitamento Materno , Modelos Logísticos , Cefalometria , Prevalência , Estudos Transversais , Análise Multivariada , Fatores de Risco , Fatores Etários , Distribuição por Sexo , Chupetas/efeitos adversos , Sucção de Dedo/efeitos adversos , Má Oclusão/epidemiologia , Desenvolvimento Maxilofacial
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