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1.
Cytogenet Genome Res ; 159(1): 1-11, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658463

RESUMO

The switch/sucrose non-fermenting (SWI/SNF) complex is an ATP-dependent chromatin remodeller that regulates the spacing of nucleosomes and thereby controls gene expression. Heterozygous mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of the mutations in ARID1B. CSS is a rare congenital disorder characterized by facial dysmorphisms, digital anomalies, and variable intellectual disability. We hypothesized that mutations in genes encoding subunits of the ubiquitously expressed SWI/SNF complex may lead to alterations of the nucleosome profiles in different cell types. We performed the first study on CSS-patient samples and investigated the nucleosome landscapes of cell-free DNA (cfDNA) isolated from blood plasma by whole-genome sequencing. In addition, we studied the nucleosome landscapes of CD14+ monocytes from CSS-affected individuals by nucleosome occupancy and methylome-sequencing (NOMe-seq) as well as their expression profiles. In cfDNA of CSS-affected individuals with heterozygous ARID1B mutations, we did not observe major changes in the nucleosome profile around transcription start sites. In CD14+ monocytes, we found few genomic regions with different nucleosome occupancy when compared to controls. RNA-seq analysis of CD14+ monocytes of these individuals detected only few differentially expressed genes, which were not in proximity to any of the identified differential nucleosome-depleted regions. In conclusion, we show that heterozygous mutations in the human SWI/SNF subunit ARID1B do not have a major impact on the nucleosome landscape or gene expression in blood cells. This might be due to functional redundancy, cell-type specificity, or alternative functions of ARID1B.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteínas Nucleares/genética , Nucleossomos/genética , Fatores de Transcrição/genética , Adolescente , Ácidos Nucleicos Livres/sangue , Ácidos Nucleicos Livres/genética , Criança , Pré-Escolar , Feminino , Genoma Humano/genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Monócitos/citologia , Adulto Jovem
2.
Spec Care Dentist ; 39(6): 624-630, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31661162

RESUMO

The presence of dental abnormalities in the same individual may be related to syndromic cases and occur through associated systemic changes. Kabuki syndrome presents well-defined systemic changes, but its clinical characteristics related to the oral cavity have not been fully explained. This study aimed to report the dental changes in a child diagnosed with Kabuki syndrome. A male brown patient aged 2 years and 7 months, accompanied by his mother to the dental visit, they main complaint was the presented of an additional tooth behind upper right central incisor. Anamnesis, intra- and extraoral examinations, and dental X-rays were performed, revealing a talon cusp. Considering the dental clinical findings, the patient was referred to a medical geneticist who additionally requested cardiological and genetic examinations, which established the Kabuki syndrome. The caregivers were advised that the talon cusp would not cause any injury to the natural exfoliation of the tooth and that oral hygiene should be performed carefully. Abnormalities in the oral cavity and developmental delay may be associated with a potential undiagnosed syndrome. The medical evaluation becomes decisive for investigation, diagnosis, and final conduct of the case.


Assuntos
Anormalidades Dentárias , Coroa do Dente , Anormalidades Múltiplas , Criança , Pré-Escolar , Dentição , Face/anormalidades , Seguimentos , Doenças Hematológicas , Humanos , Masculino , Doenças Vestibulares
3.
Artigo em Chinês | MEDLINE | ID: mdl-31446696

RESUMO

Objective:To make the molecular diagnosis of a patient complaining hearing loss and with specific facial features, developmental delay, vertebral dysplasia, hypotonia and other suspected phenotypes of Kabuki make-up syndrome(KS); to investigate the characteristics and main phenotypes of KS. Method:①Whole-exome sequencing and bioinformatics analysis were performed for proband and her parents. ②Literatures describing the clinical features of KS patients with clear molecular diagnosis from the period of Aug 2010 to Mar 2019 were collected from databases of PubMed and CNKI. Result:①The proband carries the c. 15777insT variant(p. Pro5260fs*10) in KMT2D gene. The variant causes the termination codon to appear prematurely. KMT2D c. 15777insT was classified as PVS1+PS1+PM2 according to the ACMG variation interpretation standard, which is a disease-causing mutation. The c. 15777insT was first reported as a pathogenic mutation of KS. ②77 peer-reviewed publications on KS were analysed including 462 patients with KS. The main findings were intellectual disability(305 cases), congenital heart defects(227 cases), hypotonia(184 cases), short fingers(147 cases), short stature(144 cases), cleft palate(139 cases), hearing loss(101 cases) and developmental delay(99 cases). Of the 101 patients with hearing loss, 11 were confirmed to have conductive hearing loss(1 with recurrent otitis media), 3 with mixed hearing loss, 12 with sensorineural deafness(1 with recurrence otitis media) and 75 patients with unidentified types of deafness(28 with recurrent otitis media). Conclusion:KS involves defects of a wide range of organs, with each organ showing different severity of symptoms, which is easily misdiagnosed from the phenotypes. We suggest the diagnosis on hearing loss in KS patients should be strengthened. KMT2D and KDM6A are two pathogenic genes that have been identified for KS. With the increase of age, its typical clinical phenotypes become more and more obvious. When there is only atypical suspected KS symptoms in the early neonatal period, relevant genetic test should be performed as soon as possible to achieve early diagnosis and intervention.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Perda Auditiva/etiologia , Doenças Hematológicas/complicações , Doenças Hematológicas/genética , Proteínas de Neoplasias/genética , Doenças Vestibulares/complicações , Doenças Vestibulares/genética , Feminino , Humanos , Mutação , Fenótipo
4.
Med Oral Patol Oral Cir Bucal ; 24(5): e630-e635, 2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31433389

RESUMO

BACKGROUND: To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old. MATERIAL AND METHODS: in this retrospective study, medical records of all patients were reviewed for information on family history, growth and development, medications in use, general systemic complications and oral and craniofacial characteristics. RESULTS: the medical alterations found included recurrent infections such as pneumonia and otitis media (n = 6), cardiovascular malformations (n = 4), kidney abnormalities (n = 2), epilepsy (n = 2) and visual deficiency (n = 2). The individuals exhibited dental caries (n = 5), agenesis (n = 5), delayed tooth eruption (n = 4), cleft lip/palate (n = 2) enamel hypoplasia (n = 2), fusion (n = 1) and microdontia (n = 1). CONCLUSIONS: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Cárie Dentária , Anormalidades Dentárias , Anormalidades Múltiplas , Adolescente , Criança , Pré-Escolar , Face/anormalidades , Doenças Hematológicas , Humanos , Estudos Retrospectivos , Doenças Vestibulares
5.
Nat Commun ; 10(1): 2966, 2019 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-31273213

RESUMO

Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso/genética , Corpo Caloso/crescimento & desenvolvimento , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteína SMARCB1/genética , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Alelos , Animais , Criança , Pré-Escolar , Corpo Caloso/citologia , Corpo Caloso/diagnóstico por imagem , Modelos Animais de Doenças , Embrião de Mamíferos , Face/diagnóstico por imagem , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Mutação com Perda de Função , Imagem por Ressonância Magnética , Masculino , Camundongos , Camundongos Transgênicos , Micrognatismo/diagnóstico por imagem , Pescoço/diagnóstico por imagem , Neuroglia/patologia , Cultura Primária de Células
8.
Work ; 63(1): 125-135, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31127750

RESUMO

BACKGROUND: The main function of respiratory protective devices is to provide an intact physical barrier between the environment and the user. To ensure that, a leak-tight fit of the facepiece to the user's face is essential, regardless of the user's individual facial features. OBJECTIVE: The main objective of this study was to assess the possibilities of developing customized respirators well-fitting to the anthropometric dimensions of the user's face using 3D scanning and 3D printing techniques and to evaluate this custom-made device in terms of protective, usage and strength parameters. METHODS: Commercially available twin-filter half-mask type MP22/2 was selected as base model for customization. The 3D scans of the half-mask facepiece were performed using ATOS Core optical 3D scanner. Simultaneously anthropometric measurements of the test subject face were carried out with hand-held 3D scanner Artec EVA. Then digital model of the facepiece was matched to the shape of user's face using Geomagic Touch X haptic device. Customized facepieces were printed out with use of selective laser sintering technique from thermoplastic polyurethane. After assembling, respirators were tested for compliance with the requirements of the European standards. RESULTS: The developed respirators proved to be very well-fitted to the user's face, did not cause any imprints or skin irritations and were assessed positively in terms of protective, usage and strength parameters. CONCLUSIONS: The application of 3D scanning and 3D printing techniques for designing and fabricating customized half-mask facepieces constitutes a viable option for the future development of respiratory protective devices.


Assuntos
Face/anormalidades , Máscaras/normas , Desenho de Prótese/normas , Antropometria/métodos , Desenho de Equipamento/métodos , Desenho de Equipamento/normas , Face/fisiopatologia , Humanos , Projetos Piloto , Impressão Tridimensional/instrumentação , Impressão Tridimensional/tendências , Desenho de Prótese/métodos , Ajuste de Prótese/métodos , Ajuste de Prótese/normas , Dispositivos de Proteção Respiratória/efeitos adversos , Dispositivos de Proteção Respiratória/normas
9.
Plast Reconstr Surg ; 143(6): 1233e-1243e, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31136487

RESUMO

BACKGROUND: Considerable craniofacial features of Crouzon syndrome are attributed to the dysmorphology of the cranial base. As cephalometric studies have focused mainly on the facial deformity, rather than the cranial base, the underlying cause of deformity is not as well understood. Therefore, the authors compared the cranial base development of Crouzon syndrome to controls to trace the timing of deformity in the cranial base and face, to analyze their temporal correlation. METHODS: Ninety computed tomographic scans were included (Crouzon, n = 36; controls, n = 54) and divided into five age subgroups. Craniofacial cephalometric measurements were analyzed by Materialise software. RESULTS: The overall cranial base length in Crouzon syndrome compared with controls decreased 8 percent (p = 0.014) on average. The posterior cranial fossa shortening accounted for most of this reduction. The cranial base displaced with the distances from basion, sella, and ethmosphenoid to posterior nasal spine shortened by 21%, 18%, and 16%, respectively (all p < 0.01) during life. Although the cranial base angle on intracranial surface remains normal, the angles on facial surface narrowed were reduced. CONCLUSIONS: The cranial base deformity of Crouzon syndrome consists of the whole skull base and particularly anterior skull base shortening early, leading to a compensatory widened anterior skull base. However, when this widening did not compensate fully for the rapid enlargement of the brain, the posterior skull base displaced inferiorly and became kyphotic. The cranial base deformity develops sequentially anterior to posterior in a probable cascade of influence pattern. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.


Assuntos
Disostose Craniofacial/patologia , Base do Crânio/anormalidades , Adolescente , Adulto , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , Disostose Craniofacial/diagnóstico por imagem , Face/anormalidades , Assimetria Facial/diagnóstico por imagem , Assimetria Facial/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Base do Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto Jovem
10.
Am J Case Rep ; 20: 430-436, 2019 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-30936415

RESUMO

BACKGROUND Kabuki syndrome (KS) is a rare disease with an estimated prevalence of approximately 1: 32 000. While the clinical presentation of KS is heterogeneous, manifestations may include: characteristic facial features, postnatal growth retardation, and skeletal abnormalities. With regards to the cognitive profile, most individuals with KS have an Intellectual Disability, but the magnitude of the impairment ranges from mild to severe, and verbal abilities are generally stronger than nonverbal abilities (i.e., visual spatial and visual perception abilities). Given the low incidence of KS, there is limited literature illustrating the longitudinal development of individuals with the condition. This report presents the cognitive and behavioral trajectory of an individual with KS. CASE REPORT The patient in this case report was a 27-year-old female with KS. Her cognitive profile had remained in the average range over time, but consistent with the limited KS literature, her verbal abilities were significantly higher than her nonverbal abilities. Specifically, our patient demonstrated significant deficits in visual motor and visual perceptual skills. With regards to her core language skills, her expressive skills were average, yet her receptive skills were below average. Throughout the majority of her schooling, her academic achievement skills were mildly delayed. Notably, her performance on cognitive and academic assessments remained stable over time. During young adulthood, she developed significant internalizing symptoms, particularly depressive symptoms. CONCLUSIONS This is the first case report to illustrate the presentation of an individual with KS from toddlerhood through young adulthood. The patient's clinical presentation across time was relatively consistent with the KS literature to date; notable patterns of language, motor, cognitive and behavioral deficits illustrate the considerable heterogeneity that exists within the syndrome. This case report, particularly, illustrates the persistence of the cognitive profile over time and also the co-occurring psychiatric symptoms that might emerge.


Assuntos
Transtornos Cognitivos/etiologia , Face/anormalidades , Doenças Hematológicas/complicações , Doenças Vestibulares/complicações , Anormalidades Múltiplas , Adulto , Ansiedade/etiologia , Depressão/etiologia , Feminino , Humanos , Transtornos da Linguagem/etiologia , Transtornos das Habilidades Motoras/etiologia
11.
Cornea ; 38(9): 1182-1184, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30950893

RESUMO

PURPOSE: Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and unique facial characteristics. Here, we present the first case, to the best of our knowledge, of bilateral congenital corneal opacities as an early-onset ocular manifestation of KS associated with a KMT2D gene mutation. METHODS: The proband is a girl. At birth, bilateral corneal opacities, short fifth fingers, patent ductus arteriosus, absence of the uvula, and an ectopic kidney on the right side were noted. Ophthalmic examinations revealed vascularized, nonhomogeneous opacities in both corneas; to prevent deprivation amblyopia, bilateral corneal transplantations were performed. RESULTS: At 1 year and 10 months of age, she was referred by a general practitioner to our pediatric endocrinologist for failure to thrive. Genetic analysis at that age revealed the presence of a KMT2D gene mutation, and the patient was diagnosed with KS. CONCLUSIONS: The clinical diagnosis of KS is challenging because the most remarkable facial features are not evident until early childhood. In this case, bilateral congenital corneal opacities were identified as an early-onset ocular manifestation of KS. KS should be considered as a differential diagnosis in patients with bilateral congenital corneal opacities.


Assuntos
Anormalidades Múltiplas/patologia , Opacidade da Córnea/patologia , Face/anormalidades , Doenças Hematológicas/patologia , Doenças Vestibulares/patologia , Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/patologia , Feminino , Doenças Hematológicas/genética , Humanos , Lactente , Mutação , Proteínas de Neoplasias/genética , Doenças Vestibulares/genética
12.
Indian J Pathol Microbiol ; 62(2): 283-286, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971556

RESUMO

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisis has been reported only in 9 cases till date. We report one more case of cyclopia with anencephaly and spinal rachischisis. Awareness of this spectrum of association with cyclopia, albeit rare, will help in early antenatal diagnosis by fetal ultrasonography. Public education and strict adherence to folic acid supplementation can prevent this unfortunate anomaly.


Assuntos
Feto/patologia , Holoprosencefalia/diagnóstico , Disrafismo Espinal/diagnóstico , Adulto , Face/anormalidades , Feminino , Estudos de Associação Genética , Holoprosencefalia/genética , Humanos , Gravidez , Resultado da Gravidez , Disrafismo Espinal/genética
13.
Rev. pediatr. electrón ; 16(1): 18-24, abr. 2019. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-998476

RESUMO

Resumen Introducción: El síndrome de Alagille es una enfermedad con múltiples afectaciones, es autosómica dominante, con expresividad variable. Se identifica por manifestaciones hepáticas, vertebrales, cardiacas, oculares y dismorfia facial. Objetivo: Reportar un caso de S. de Alagille con afectación hepática, que debuta con hemorragia de vías digestivas altas. Materiales y métodos: Reporte de caso clínico confrontando con artículos de revisiones de temas en búsqueda electrónica en bases de datos de RIMA, MEDLINE, PUBMED, MEDSCAPE, de 1993-2018. Resultado: Paciente de 2 años, con diagnóstico tardío de enfermedad hepática, con progresión a cirrosis y hallazgos al examen físico que confirman Síndrome de Alagille. Se confirma el diagnóstico molecular coincidiendo con el principal hallazgo genético con anomalías asociadas al gen Jagged 1 (JAG1) localizado en el cromosoma 20 y el NOTCH2 del cromosoma 1. Conclusiones: Es de gran importancia resaltar esta patología infrecuente la cual representa un reto diagnóstico, debe tenerse en cuenta la múltiple afectación orgánica por lo cual es fundamental un manejo interdisciplinario


Abstract Introduction: Alagille syndrome is a disease with multiple impairments, is autosomal dominant with variable expressivity. It is identified by manifestations of vertebral, liver, heart, eye and facial dysmorphia. Objective: Report a case of Alagille S. with hepatic involvement, debuting with hemorrhage of upper digestive tract. Materials and methods: Clinical case report confronting articles reviewing subjects in electronic search in RIMA databases, MEDLINE, PUBMED, MEDSCAPE, from 1993-2018. Result: 2 year old patient, with late diagnosis of liver disease, with progression to cirrhosis and physical exam findings that confirm Alagille Syndrome. Confirmed the diagnostic molecular coinciding with the main genetic finding which are anomalies associated with the gene Jagged 1 (JAG1) located on chromosome 20 and the NOTCH2 of chromosome 1. Conclusions: It is important to highlight this uncommon disease which poses a diagnostic challenge, multiple organic involvement must be taken into account by which an interdisciplinary management is essential.


Assuntos
Humanos , Masculino , Pré-Escolar , Síndrome de Alagille/complicações , Síndrome de Alagille/diagnóstico , Hemorragia Gastrointestinal/etiologia , Colestase/diagnóstico , Colestase/etiologia , Síndrome de Alagille/genética , Síndrome de Alagille/terapia , Receptor Notch2 , Face/anormalidades , Proteína Jagged-1 , Cirrose Hepática/diagnóstico , Cirrose Hepática/etiologia
14.
Eur J Paediatr Neurol ; 23(3): 418-426, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30853297

RESUMO

The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic encephalopathy, intellectual disability, and spinocerebellar ataxia. We report on six patients from three unrelated families of full or partial Yemenite Jewish ancestry exhibiting early infantile epileptic encephalopathy and profound developmental delay. Importantly, four patients demonstrated facial dysmorphism. Exome sequencing revealed that four of the patients were homozygous for a novel WWOX c.517-2A > G splice-site variant and two were compound heterozygous for this variant and a novel c.689A > C, p.Gln230Pro missense variant. Complementary DNA sequencing demonstrated that the WWOX c.517-2A > G splice-site variant causes skipping of exon six. A carrier rate of 1:177 was found among Yemenite Jews. We provide the first detailed description of patients harboring a splice-site variant in the WWOX gene and propose that the clinical synopsis of WWOX related epileptic encephalopathy should be broadened to include facial dysmorphism. The increased frequency of the c.517-2A > G splice-site variant among Yemenite Jews coupled with the severity of the phenotype makes it a candidate for inclusion in expanded preconception screening programs.


Assuntos
Face/anormalidades , Deficiência Intelectual/genética , Espasmos Infantis/genética , Proteínas Supressoras de Tumor/genética , Oxidorredutase com Domínios WW/genética , Feminino , Estudos de Associação Genética , Humanos , Judeus/genética , Masculino , Mutação , Linhagem , Iêmen
15.
Plast Reconstr Surg ; 143(3): 823-835, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30817656

RESUMO

BACKGROUND: The purposes of this study were to (1) assess complementary fat graft outcomes, (2) compare initial and complementary fat graft retention rates, and (3) evaluate the influence of different postoperative time points (3, 6, and 12 months after the initial procedure) for performing complementary fat grafting on fat graft outcomes. METHODS: A prospective analysis was conducted on patients with unilateral craniofacial contour deformities (n = 115) who underwent initial and complementary fat grafting. Complementary fat grafting was performed 3, 6, or 12 months after the initial fat grafts. Standardized ultrasonographic craniofacial soft-tissue thickness measurements were performed blindly to determine the initial and complementary fat graft retention rates at 1, 3, 6, and 12 months after surgery. RESULTS: A significant (p < 0.05) reduction of fat graft retention was observed within the first 3 postoperative months, and a maintenance of retention (p > 0.05) was observed at 3 through 12 months after surgery for both initial and complementary procedures. No significant (p > 0.05) differences were observed in comparative analysis of the postoperative time points. Complementary retention rates were significantly (p < 0.05) superior to initial retention rates at 3, 6, and 12 months after surgery. Complementary retention rates at 3, 6, and 12 months after surgery were significantly (p < 0.05) superior to initial retention rates for patients aged 18 years or older, those with Parry-Romberg syndrome, those who had undergone previous craniofacial bone surgery, and those with a recipient site at the forehead unit. CONCLUSION: The complementary fat graft retention rates were superior to the initial retention rates, with no significant differences among the postoperative time points for performing complementary procedures. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, II.


Assuntos
Tecido Adiposo/transplante , Anormalidades Craniofaciais/cirurgia , Hemiatrofia Facial/cirurgia , Sobrevivência de Enxerto , Procedimentos Cirúrgicos Reconstrutivos/métodos , Reoperação/métodos , Tecido Adiposo/diagnóstico por imagem , Adolescente , Adulto , Face/anormalidades , Face/diagnóstico por imagem , Face/cirurgia , Feminino , Humanos , Masculino , Estudos Prospectivos , Resultado do Tratamento , Ultrassonografia , Adulto Jovem
17.
Drug Alcohol Depend ; 197: 42-47, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30772781

RESUMO

BACKGROUND: High levels of prenatal alcohol exposure are known to cause an array of adverse outcomes including fetal alcohol syndrome (FAS); however, the effects of low to moderate exposure are less-well characterized. Previous findings suggest that differences in normal-range facial morphology may be a marker for alcohol exposure and related adverse effects. METHODS: In the Avon Longitudinal Study of Parents and Children, we tested for an association between maternal alcohol consumption and six FAS-related facial phenotypes in their offspring, using both self-report questionnaires and the maternal genotype at rs1229984 in ADH1B as measures of maternal alcohol consumption. RESULTS: In both self-reported alcohol consumption (N = 4233) and rs1229984 genotype (N = 3139) analyses, we found no strong statistical evidence for an association between maternal alcohol consumption and facial phenotypes tested. The directions of effect estimates were compatible with the known effects of heavy alcohol exposure, but confidence intervals were largely centered around zero. CONCLUSIONS: There is no strong evidence, in a sample representative of the general population, for an effect of prenatal alcohol exposure on normal-range variation in facial morphology.


Assuntos
Face/anormalidades , Transtornos do Espectro Alcoólico Fetal/etiologia , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Adulto , Álcool Desidrogenase/análise , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/genética , Biomarcadores/análise , Criança , Face/patologia , Feminino , Transtornos do Espectro Alcoólico Fetal/patologia , Genótipo , Humanos , Estudos Longitudinais , Masculino , Fenótipo , Gravidez , Complicações na Gravidez/genética , Complicações na Gravidez/psicologia , Reino Unido
18.
Surg Radiol Anat ; 41(5): 569-574, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30656417

RESUMO

The oro-ocular cleft number 5 according to the Tessier classification is one of the rarest facial clefts and few cases have been reported in the literature. Although the detailed structure of rare craniofacial clefts is well established, the cause of these pathological conditions is not. There are no existing guidelines for the management of this particular kind of cleft. We describe the case of a 19-month-old girl with a complete bilateral facial cleft. We describe the surgical steps taken to achieve the primary correction of the soft tissue deformation. Embryologic development and radiological approach are discussed, as are also the psychological and social aspects of severe facial deformities.


Assuntos
Fissura Palatina/cirurgia , Anormalidades do Olho/cirurgia , Face/anormalidades , Ossos Faciais/anormalidades , Ossos Faciais/cirurgia , Anormalidades da Boca/cirurgia , Fissura Palatina/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Ossos Faciais/diagnóstico por imagem , Feminino , Humanos , Lactente , Anormalidades da Boca/diagnóstico por imagem , Tomografia Computadorizada por Raios X
19.
Zhonghua Er Ke Za Zhi ; 57(1): 55-59, 2019 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-30630233

RESUMO

Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed. "ICF syndrome" "immunodeficiency, centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018, and the literature was reviewed. Results: A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year. Laboratory tests showed humoral immune deficiency with IgG<1.34 g/L, IgA<0.060 g/L, and IgM<0.179 g/L, but normal cellular immunity (total T lymphocyte 0.503, hepler T lymphocyte 0.328, cytotoxic T lymphocyte 0.166, natural killer cell 0.184, total B lymphocyte 0.276). Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A>G in intron 8, and a de novo heterozygous missense mutation c.2477G>A in exon 23 of DNMT3B gene. Chromosome karyotype analysis showed 46, XX, with 64 out of 100 karyotypes showing centromere instability in chromosome 1. Five papers were found which were all in English, with total of 29 patients. Forty-three mutations were reported, including 34 missense, 2 deletion, 1 insertion, 6 splice site mutations. Eleven patients had complex heterozygosis mutations. All patients had centromere instability, humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears. Most patients had language and motor development delay, and a few were combined with mental retardation. Conclusions: ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations. De novo mutation of DNMT3B gene is one of etiologies according to genetic test.


Assuntos
Anormalidades Múltiplas , DNA (Citosina-5-)-Metiltransferases , Face , Síndromes de Imunodeficiência , Anormalidades Múltiplas/genética , Centrômero , Instabilidade Cromossômica , DNA (Citosina-5-)-Metiltransferases/genética , Face/anormalidades , Feminino , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/genética , Lactente , Mutação
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