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1.
Braz. j. biol ; 842024.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469266

RESUMEN

Abstract Cancer is a fatal malignancy and its increasing worldwide prevalence demands the discovery of more sensitive and reliable molecular biomarkers. To investigate the GINS1 expression level and its prognostic value in distinct human cancers using a series of multi-layered in silico approach may help to establish it as a potential shared diagnostic and prognostic biomarker of different cancer subtypes. The GINS1 mRNA, protein expression, and promoter methylation were analyzed using UALCAN and Human Protein Atlas (HPA), while mRNA expression was further validated via GENT2. The potential prognostic values of GINS1 were evaluated through KM plotter. Then, cBioPortal was utilized to examine the GINS1-related genetic mutations and copy number variations (CNVs), while pathway enrichment analysis was performed using DAVID. Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. The GINS1 was found down-regulated in a single subtypes of human cancer while commonly up-regulated in 23 different other subtypes. The up-regulation of GINS1 was significantly correlated with the poor overall survival (OS) of Liver Hepatocellular Carcinoma (LIHC), Lung Adenocarcinoma (LUAD), and Kidney renal clear cell carcinoma (KIRC). The GINS1 was also found up-regulated in LIHC, LUAD, and KIRC patients of different clinicopathological features. Pathways enrichment analysis revealed the involvement of GINS1 in two diverse pathways, while few interesting correlations were also documented between GINS1 expression and its promoter methylation level, CD8+ T immune cells level, and CNVs. Moreover, we also predicted few drugs that could be used in the treatment of LIHC, LUAD, and KIRC by regulating the GINS1 expression. The expression profiling of GINS1 in the current study has suggested it a novel shared diagnostic and prognostic biomarker of LIHC, LUAD, and KIRC.


Resumo O câncer é uma doença maligna fatal e sua crescente prevalência mundial exige a descoberta de biomarcadores moleculares mais sensíveis e confiáveis. Investigar o nível de expressão de GINS1 e seu valor prognóstico em cânceres humanos distintos, usando uma série de abordagens in silico em várias camadas, pode ajudar a estabelecê-lo como um potencial biomarcador de diagnóstico e prognóstico compartilhado de diferentes subtipos de câncer. O mRNA de GINS1, a expressão da proteína e a metilação do promotor foram analisados usando UALCAN e Human Protein Atlas (HPA), enquanto a expressão de mRNA foi posteriormente validada via GENT2. Os valores prognósticos potenciais de GINS1 foram avaliados por meio do plotter KM. Em seguida, o cBioPortal foi utilizado para examinar as mutações genéticas relacionadas ao GINS1 e as variações do número de cópias (CNVs), enquanto a análise de enriquecimento da via foi realizada usando DAVID. Além disso, uma análise correlacional entre a expressão de GINS1 e células imunes T CD8 + e a construção de uma rede de interação gene-droga foi realizada usando TIMER, CDT e Cytoscape. O GINS1 foi encontrado regulado negativamente em um único subtipo de câncer humano, enquanto comumente regulado positivamente em 23 outros subtipos diferentes. A regulação positiva de GINS1 foi significativamente correlacionada com a sobrevida global pobre (OS) de Carcinoma Hepatocelular de Fígado (LIHC), Adenocarcinoma de Pulmão (LUAD) e Carcinoma de Células Claras Renais de Rim (KIRC). O GINS1 também foi encontrado regulado positivamente em pacientes LIHC, LUAD e KIRC de diferentes características clínico-patológicas. A análise de enriquecimento de vias revelou o envolvimento de GINS1 em duas vias diversas, enquanto poucas correlações interessantes também foram documentadas entre a expressão de GINS1 e seu nível de metilação do promotor, nível de células imunes T CD8 + e CNVs. Além disso, também previmos poucos medicamentos que poderiam ser usados no tratamento de LIHC, LUAD e KIRC, regulando a expressão de GINS1. O perfil de expressão de GINS1 no estudo atual sugeriu que é um novo biomarcador de diagnóstico e prognóstico compartilhado de LIHC, LUAD e KIRC.

2.
Braz. j. biol ; 84: e250575, 2024. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1350309

RESUMEN

Abstract Cancer is a fatal malignancy and its increasing worldwide prevalence demands the discovery of more sensitive and reliable molecular biomarkers. To investigate the GINS1 expression level and its prognostic value in distinct human cancers using a series of multi-layered in silico approach may help to establish it as a potential shared diagnostic and prognostic biomarker of different cancer subtypes. The GINS1 mRNA, protein expression, and promoter methylation were analyzed using UALCAN and Human Protein Atlas (HPA), while mRNA expression was further validated via GENT2. The potential prognostic values of GINS1 were evaluated through KM plotter. Then, cBioPortal was utilized to examine the GINS1-related genetic mutations and copy number variations (CNVs), while pathway enrichment analysis was performed using DAVID. Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. The GINS1 was found down-regulated in a single subtypes of human cancer while commonly up-regulated in 23 different other subtypes. The up-regulation of GINS1 was significantly correlated with the poor overall survival (OS) of Liver Hepatocellular Carcinoma (LIHC), Lung Adenocarcinoma (LUAD), and Kidney renal clear cell carcinoma (KIRC). The GINS1 was also found up-regulated in LIHC, LUAD, and KIRC patients of different clinicopathological features. Pathways enrichment analysis revealed the involvement of GINS1 in two diverse pathways, while few interesting correlations were also documented between GINS1 expression and its promoter methylation level, CD8+ T immune cells level, and CNVs. Moreover, we also predicted few drugs that could be used in the treatment of LIHC, LUAD, and KIRC by regulating the GINS1 expression. The expression profiling of GINS1 in the current study has suggested it a novel shared diagnostic and prognostic biomarker of LIHC, LUAD, and KIRC.


Resumo O câncer é uma doença maligna fatal e sua crescente prevalência mundial exige a descoberta de biomarcadores moleculares mais sensíveis e confiáveis. Investigar o nível de expressão de GINS1 e seu valor prognóstico em cânceres humanos distintos, usando uma série de abordagens in silico em várias camadas, pode ajudar a estabelecê-lo como um potencial biomarcador de diagnóstico e prognóstico compartilhado de diferentes subtipos de câncer. O mRNA de GINS1, a expressão da proteína e a metilação do promotor foram analisados ​​usando UALCAN e Human Protein Atlas (HPA), enquanto a expressão de mRNA foi posteriormente validada via GENT2. Os valores prognósticos potenciais de GINS1 foram avaliados por meio do plotter KM. Em seguida, o cBioPortal foi utilizado para examinar as mutações genéticas relacionadas ao GINS1 e as variações do número de cópias (CNVs), enquanto a análise de enriquecimento da via foi realizada usando DAVID. Além disso, uma análise correlacional entre a expressão de GINS1 e células imunes T CD8 + e a construção de uma rede de interação gene-droga foi realizada usando TIMER, CDT e Cytoscape. O GINS1 foi encontrado regulado negativamente em um único subtipo de câncer humano, enquanto comumente regulado positivamente em 23 outros subtipos diferentes. A regulação positiva de GINS1 foi significativamente correlacionada com a sobrevida global pobre (OS) de Carcinoma Hepatocelular de Fígado (LIHC), Adenocarcinoma de Pulmão (LUAD) e Carcinoma de Células Claras Renais de Rim (KIRC). O GINS1 também foi encontrado regulado positivamente em pacientes LIHC, LUAD e KIRC de diferentes características clínico-patológicas. A análise de enriquecimento de vias revelou o envolvimento de GINS1 em duas vias diversas, enquanto poucas correlações interessantes também foram documentadas entre a expressão de GINS1 e seu nível de metilação do promotor, nível de células imunes T CD8 + e CNVs. Além disso, também previmos poucos medicamentos que poderiam ser usados ​​no tratamento de LIHC, LUAD e KIRC, regulando a expressão de GINS1. O perfil de expressão de GINS1 no estudo atual sugeriu que é um novo biomarcador de diagnóstico e prognóstico compartilhado de LIHC, LUAD e KIRC.


Asunto(s)
Humanos , Carcinoma de Células Renales/genética , Neoplasias Renales/genética , Neoplasias Hepáticas , Pronóstico , Biomarcadores de Tumor/genética , Regulación Neoplásica de la Expresión Génica , Regulación hacia Arriba , Proteínas de Unión al ADN , Variaciones en el Número de Copia de ADN
4.
J Craniofac Surg ; 34(7): e644-e646, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-37259204

RESUMEN

Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.


Asunto(s)
Artropatía Neurógena , Craneosinostosis , Niño , Humanos , Masculino , Craneosinostosis/complicaciones , Craneosinostosis/diagnóstico , Craneosinostosis/cirugía , Suturas Craneales/cirugía
5.
Pediatr Pulmonol ; 57(8): 1887-1896, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-33580741

RESUMEN

Robin sequence is characterized by mandibular retrognathia, airway obstruction, and glossoptosis; 80%-90% also have a cleft palate. Various treatment approaches exist, and although controlled studies are rare, objective assessment of treatment outcomes that address the leading clinical issues, namely obstructive sleep apnea and failure to thrive, are essential. Sleep-disordered breathing may be detected using cardiorespiratory polygraphy or polysomnography. Pulse oximetry alone may miss infants with frequent obstructive apneas, yet no intermittent hypoxia. Among conservative treatment options, the Tubingen Palatal Plate with a velar extension shifting the tongue base forward is the only approach that corrects the underlying anatomy and that has undergone appropriate evaluation. Of the surgical treatment options, which are not necessarily the first line of therapy, mandibular distraction osteogenesis (MDO) is effective and has been most extensively adopted. Notwithstanding, it is puzzling that MDO is frequently used in some countries, yet hardly ever in others, despite similar tracheostomy rates. Thus, prospective multicenter studies with side-by-side comparisons aimed at identifying an optimal treatment paradigm for this potentially life-threatening condition are urgently needed.


Asunto(s)
Obstrucción de las Vías Aéreas , Osteogénesis por Distracción , Síndrome de Pierre Robin , Síndromes de la Apnea del Sueño , Apnea Obstructiva del Sueño , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/cirugía , Humanos , Lactante , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/cirugía , Polisomnografía , Estudios Prospectivos , Estudios Retrospectivos , Síndromes de la Apnea del Sueño/terapia , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , Resultado del Tratamiento
6.
Braz J Biol ; 84: e250575, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34852135

RESUMEN

Cancer is a fatal malignancy and its increasing worldwide prevalence demands the discovery of more sensitive and reliable molecular biomarkers. To investigate the GINS1 expression level and its prognostic value in distinct human cancers using a series of multi-layered in silico approach may help to establish it as a potential shared diagnostic and prognostic biomarker of different cancer subtypes. The GINS1 mRNA, protein expression, and promoter methylation were analyzed using UALCAN and Human Protein Atlas (HPA), while mRNA expression was further validated via GENT2. The potential prognostic values of GINS1 were evaluated through KM plotter. Then, cBioPortal was utilized to examine the GINS1-related genetic mutations and copy number variations (CNVs), while pathway enrichment analysis was performed using DAVID. Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. The GINS1 was found down-regulated in a single subtypes of human cancer while commonly up-regulated in 23 different other subtypes. The up-regulation of GINS1 was significantly correlated with the poor overall survival (OS) of Liver Hepatocellular Carcinoma (LIHC), Lung Adenocarcinoma (LUAD), and Kidney renal clear cell carcinoma (KIRC). The GINS1 was also found up-regulated in LIHC, LUAD, and KIRC patients of different clinicopathological features. Pathways enrichment analysis revealed the involvement of GINS1 in two diverse pathways, while few interesting correlations were also documented between GINS1 expression and its promoter methylation level, CD8+ T immune cells level, and CNVs. Moreover, we also predicted few drugs that could be used in the treatment of LIHC, LUAD, and KIRC by regulating the GINS1 expression. The expression profiling of GINS1 in the current study has suggested it a novel shared diagnostic and prognostic biomarker of LIHC, LUAD, and KIRC.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Neoplasias Hepáticas , Biomarcadores de Tumor/genética , Carcinoma de Células Renales/genética , Variaciones en el Número de Copia de ADN , Proteínas de Unión al ADN , Regulación Neoplásica de la Expresión Génica , Humanos , Neoplasias Renales/genética , Pronóstico , Regulación hacia Arriba
7.
J Craniofac Surg ; 32(8): 2763-2767, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34727475

RESUMEN

OBJECTIVE: Children with cranial shape abnormalities are often subjected to radiation from computed tomography (CT) for evaluation and clinical decision making. The STARscanner Laser Data Acquisition System (Orthomerica, Orlando, FL) may be a noninvasive alternate. The purpose of this study is to determine whether the STARscanner provides valid and accurate cranial measurements compared to CT. DESIGN: We performed an institutional review board-approved retrospective review of a prospectively maintained database of patients with metopic suture abnormalities from 2013 to 2016. SETTING: Plastic surgery clinic in an institutional tertiary care center. PATIENTS: Eight patients were included that presented with metopic suture abnormalities, age less than 1 year, and CT and STARscanner imaging within 30 days of one another. MAIN OUTCOME MEASURES: Cranial measurements were collected twice from 3 scan types: STARscanner, CT windowed for soft tissue, and CT windowed for bone. Measurements included: intracranial volume, height, base width, maximum antero-posterior length, maximum medio-lateral width, and oblique diameters. Nested analysis of variance were performed to determine the proportion of error attributable to: between-subject variance, scan type, and rater. RESULTS: Measurements from STARscanner and both CT scans windows were highly consistent, with less than 1% of total error attributable to scan type for all measures. CONCLUSIONS: Cranial shape measurements obtained from STARscanner images are highly consistent with those obtained from CT scans. The STARscanner has added benefits of speed of acquisition, minimal cost, and lack of radiation.


Asunto(s)
Craneosinostosis , Niño , Suturas Craneales , Humanos , Rayos Láser , Estudios Retrospectivos , Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos X
8.
Trop Biomed ; 38(3): 413-419, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34608115

RESUMEN

Human brucellosis is a neglected zoonotic problem worldwide with a high degree of morbidity in humans and is mostly overlooked due to other febrile conditions. The aim of this study was to evaluate the sero-prevalence and risk factors of human brucellosis among subjects living in Punjab, Pakistan. In this cross-sectional study, human blood samples were collected from seven districts of Punjab, Pakistan. Information regarding personal data, demographic data and potential risk factors was collected through a structured questionnaire. Detection of anti-Brucella antibodies was done through Rose Bengal Plate Test (RBPT) and Enzyme Linked Immunosorbent Assay (ELISA). Descriptive analysis, Chi square test and Odds ratio was applied using STATA software version 12. The sero-prevalence of human brucellosis was 13.13% with significantly higher percentage in males 17.23% and age group 25-40 years 16.50% (P=< 0.001). The demographic factors positively associated with human brucellosis were lack of education (P = 0.003; OR = 1.85) and farming as an occupation (P =<0.001; OR = 2.50) Similarly, among the risk factors studied, keeping animals at home (P =<0.001; OR = 2.03), slaughtering of animals (P =<0.001; OR = 15.87) and consuming raw milk (P =<0.001; OR = 5.42) were the factors strongly connected with human brucellosis. A massive awareness should be given to livestock farmers and individuals directly linked to animals regarding risk factors and transmission of brucellosis. Consumption of unpasteurized milk and its products should be condemned to curtail this neglected disease.


Asunto(s)
Brucelosis , Leche/microbiología , Estudios Seroepidemiológicos , Adulto , Animales , Brucelosis/epidemiología , Estudios Transversales , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Pakistán/epidemiología , Prevalencia , Factores de Riesgo
9.
Childs Nerv Syst ; 37(6): 2121-2124, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33009608

RESUMEN

Positional plagiocephaly is the most common cause of cranial asymmetry. Deformational brachycephaly denotes a head shape characterized by occipital flattening and increased bilateral width, which can also be caused by external deformation of the moldable infant cranium in positional bilateral posterior plagiocephaly. There are reports of craniosynostosis associated with Chiari I malformation (CIM), possibly caused by decreased posterior fossa volume and related to increased intracranial pressure. To the best of our knowledge, this is only the second case report demonstrating acquired CIM in a child with positional brachycephaly. Of note, the fact that the CIM resolved after helmet therapy could support the hypothesis that CIM is associated with decreased volume of the posterior fossa. However, these two conditions may be independent of one another. More research is needed to identify an association between the two conditions.


Asunto(s)
Craneosinostosis , Plagiocefalia no Sinostótica , Plagiocefalia , Niño , Craneosinostosis/diagnóstico por imagen , Dispositivos de Protección de la Cabeza , Humanos , Lactante , Cráneo , Resultado del Tratamiento
11.
Ann Plast Surg ; 82(4): 469-477, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30856625

RESUMEN

Odontogenic cysts and tumors are mandibular and maxillary lesions that occur across all patient demographics across age, sex, race, and social economic status, as altered remnants of dental development. They may be incidental findings from routine imaging in any office or found through workup for craniofacial surgery or injury. Many of these patients present with asymptomatic lesions, whereas others may be symptomatic. In this article, we review the literature on the most common odontogenic tumors and cysts and discuss their presentation, their defining traits, and how to approach diagnosis and definitive management.


Asunto(s)
Neoplasias Mandibulares/cirugía , Neoplasias Maxilares/cirugía , Quistes Odontogénicos/diagnóstico por imagen , Quistes Odontogénicos/cirugía , Tumores Odontogénicos/patología , Tumores Odontogénicos/cirugía , Biopsia con Aguja , Femenino , Humanos , Inmunohistoquímica , Masculino , Neoplasias Mandibulares/diagnóstico por imagen , Neoplasias Mandibulares/patología , Neoplasias Maxilares/diagnóstico por imagen , Neoplasias Maxilares/patología , Quistes Odontogénicos/patología , Tumores Odontogénicos/diagnóstico por imagen , Pronóstico , Radiografía Panorámica/métodos , Medición de Riesgo , Resultado del Tratamiento
13.
J Craniofac Surg ; 29(1): 76-81, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29065051

RESUMEN

Cranial dysmorphology observed in patients with metopic craniosynostosis varies along a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing, and trigonocephaly. Management has been based upon the subjective clinical impression of presence and severity of trigonocephaly. Severity of cranial dysmorphology does not predict the occurrence or severity of associated abnormal neurodevelopment, as children with mild-to-moderate trigonocephaly may also experience developmental delays. The authors sought to determine the relationship between mild-to-moderate trigonocephaly and anterior cranial volume using a noninvasive laser shape digitizer (STARscanner) in patients with abnormal head shape.An IRB-approved retrospective review of a prospectively maintained database and medical records was performed. Two hundred three patients less than 1 year of age with abnormal head shape were categorized as having a metopic ridge with mild-to-moderate trigonocephaly, metopic ridge without trigonocephaly, or no ridge. Measurements of cranial volume, circumference, and symmetry were calculated by the STARscanner, which quantifies three-dimensional shape of the cranial surface. Measures were analyzed using a series of analyses of variance and post-hoc Tukey honest significant difference.The authors results showed ACV was significantly reduced in patients with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.009), and trended toward significance compared with those with a ridge but without trigonocephaly (P = 0.072). The ratio of anterior-to-posterior cranial volume was significantly reduced in those with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.036).In conclusion, patients with milder anterior cranial deformities demonstrated an association between a metopic ridge with mild-to-moderate trigonocephaly and reduced anterior cranial volume.


Asunto(s)
Cefalometría/métodos , Craneosinostosis/patología , Rayos Láser , Cráneo/patología , Femenino , Humanos , Lactante , Masculino , Tamaño de los Órganos , Estudios Retrospectivos
14.
J Craniofac Surg ; 27(7): 1719-1721, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27483099

RESUMEN

Traumatic fracture of the premaxilla is a rare event, and there is minimal data regarding the presentation, management, and outcome of these patients. This article reports 2 patients with bilateral cleft lip and palate who each presented with traumatic fracture and displacement of the premaxilla. To authors' knowledge, the occurrence and management of a traumatic fracture and displacement of the premaxilla in a patient with cleft lip and palate has not been reported.


Asunto(s)
Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Maxilar/lesiones , Fracturas Maxilares/complicaciones , Niño , Preescolar , Humanos , Masculino , Fracturas Maxilares/diagnóstico , Tomografía Computarizada por Rayos X
15.
Ann R Coll Surg Engl ; 98(6): 376-9, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27055409

RESUMEN

Introduction Internal fixation of undisplaced intracapsular femoral neck fractures with cannulated hip screws is a widely accepted surgical technique, despite reported failure rates of 12%-19%. This study determined whether preoperative serum albumin levels are linked to fixation failure. Methods We retrospectively reviewed 251 consecutive undisplaced intracapsular femoral neck fracture patients treated with cannulated hip screws in a district general hospital. Preoperative albumin levels were measured, and the fixation technique, classification and posterior tilt on radiography assessed. Fixation failure was defined as a screw cut, avascular necrosis (AVN) or non-union. Results Of the patients, 185 were female and 66 male. The mean age was 77 years (range 60-101 years). Thirty seven (15%) patients had fixation failure: 10 (4%) due to AVN; 12 (5%) due to non-union; and 15 (6%) due to fixation collapse. Low serum albumin levels were significantly associated with failure (p=0.01), whereas gender (p=0.56), operated side (p=0.62), age (p=0.34) and screw configuration (p=0.42) were not. A posterior tilt angle greater than 20° on lateral radiography significantly predicted failure (p=0.002). Conclusions Preoperative serum albumin is an independent predictor of cannulated hip screw fixation failure in undisplaced femoral neck fractures. Nutritional status should therefore be considered when deciding between surgical fixation and arthroplasty to avoid the possibility of revision surgery, along with an increased risk of morbidity and mortality.


Asunto(s)
Tornillos Óseos , Fracturas del Cuello Femoral/cirugía , Fijación Interna de Fracturas/efectos adversos , Albúmina Sérica , Anciano , Anciano de 80 o más Años , Femenino , Necrosis de la Cabeza Femoral/etiología , Fracturas no Consolidadas/etiología , Humanos , Masculino , Persona de Mediana Edad , Estado Nutricional , Periodo Preoperatorio , Estudios Retrospectivos
16.
Cleft Palate Craniofac J ; 53(1): e14-7, 2016 01.
Artículo en Inglés | MEDLINE | ID: mdl-26720640

RESUMEN

OBJECTIVE: Ophthalmic abnormalities in children with syndromic craniosynostosis have been reported previously, and referral of these children to a pediatric ophthalmologist is recommended. However, it is not as clear whether a child with nonsyndromic synostosis needs to be referred to a pediatric ophthalmologist. The aim of this study is to report the incidence of amblyopia and its risk factors in children with isolated metopic craniosynostosis. DESIGN: An institutional review board-approved, retrospective review was performed on 91 children diagnosed with isolated metopic craniosynostosis. Ophthalmologic records were reviewed for diagnoses of amblyopia, strabismus, and refractive error. RESULTS: Of the 91 children, 19 (20.9%) had astigmatism, eight (8.8%) had amblyopia, eight (8.8%) had strabismus, five had myopia (5.5%), five had hyperopia (5.5%), and five had anisometropia (5.5%). The incidence of amblyopia and its risk factors found in our study are higher than the rate found in the clinically normal pediatric population. CONCLUSIONS: In our patient population, children with isolated metopic craniosynostosis demonstrate an increased rate of amblyopia and its risk factors. Amblyopia is best treated early in life to achieve a successful outcome. A referral to a pediatric ophthalmologist for a formal eye exam and potential treatment is therefore recommended for children with isolated metopic craniosynostosis.


Asunto(s)
Ambliopía/epidemiología , Ambliopía/etiología , Craneosinostosis/complicaciones , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Errores de Refracción/epidemiología , Errores de Refracción/etiología , Estudios Retrospectivos , Factores de Riesgo , Estrabismo/epidemiología , Estrabismo/etiología
17.
Cleft Palate Craniofac J ; 53(4): e95-e100, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26090786

RESUMEN

OBJECTIVE: To identify an additional objective measure to aid in the evaluation of children with isolated metopic craniosynostosis. DESIGN: This is a retrospective study comparing specific computed tomography scan measurements between surgical and nonsurgical cohorts of children with isolated metopic craniosynostosis. Children were included if they were diagnosed with isolated metopic craniosynostosis and ultimately underwent computed tomography scan imaging as part of their evaluation. The subjects were placed in the surgical or nonsurgical cohorts on the basis of the final treatment recommendation after they completed a full multidisciplinary, multimodality evaluation. Comparisons were made with a control group of unaffected patients from our institutional trauma registry. SETTING: Tertiary academic institution. PATIENTS, PARTICIPANTS: The subjects are patients who had been previously evaluated in our clinic for isolated metopic craniosynostosis and received a computed tomography scan as part of their workup. RESULTS: The average intercoronal distances were significantly different among all three groups (P < .002). The average cephalic width-intercoronal distance ratio for children who received a recommendation for surgery differed significantly from that of both the observation cohort and the control group (P < .001). However, the cephalic width-intercoronal distance ratio did not differ between the observation cohort and the control group (P = .927). CONCLUSIONS: The cephalic width-intercoronal distance ratio may be an additional objective measurement to aid in the clinical evaluation of children with metopic craniosynostosis.


Asunto(s)
Craneosinostosis/diagnóstico , Cabeza/anatomía & histología , Cefalometría , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
18.
Cleft Palate Craniofac J ; 53(2): e23-7, 2016 03.
Artículo en Inglés | MEDLINE | ID: mdl-25531732

RESUMEN

OBJECTIVE: Alveolar bone grafting (ABG) with iliac crest bone graft can be associated with significant pain at the donor site. The On-Q pain pump has been shown to be efficacious in treating postsurgical pain. The aim of this study was to compare the length of postoperative hospital stay in patients undergoing ABG who received the On-Q pain pump at the iliac crest donor site (On-Q+) with that of patients who did not receive the On-Q pain pump (On-Q-). DESIGN: A retrospective, cohort study, approved by institutional review board, was performed. Thirty-one consecutive patients in the On-Q- group were compared with 38 consecutive patients in the On-Q+ group. The two cohorts were assessed for length of stay. Statistical analysis was performed using the Fisher exact probability test. SETTING: Tertiary care academic medical center. PATIENTS: Sixty-nine patients with cleft lip and/or cleft palate (CL/P) undergoing secondary ABG with iliac crest bone graft were operated on between May 1993 and January 2014. MAIN OUTCOME MEASURE: Length of postoperative hospital stay. RESULTS: Mean length of stay in the On-Q- patients was 0.52 days versus 0.37 days for the On-Q+ patients. This difference between the two cohorts was not statistically significant (P = .234). CONCLUSION: Although there is a trend toward a shorter length of stay in our patients who received the On-Q pump, this finding was not statistically significant. Given the expense and additional burden of care associated with the device, we have become more selective in its utilization.


Asunto(s)
Injerto de Hueso Alveolar , Anestésicos Locales/administración & dosificación , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Ilion/trasplante , Bombas de Infusión , Tiempo de Internación/estadística & datos numéricos , Manejo del Dolor/métodos , Dolor Postoperatorio/prevención & control , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Dimensión del Dolor , Estudios Retrospectivos , Resultado del Tratamiento
19.
Plast Surg (Oakv) ; 23(1): 21-4, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25821768

RESUMEN

BACKGROUND: Wound healing complications can occur after calvarial vault expansion due to tension on the scalp flaps. OBJECTIVES: To compare wound healing outcomes in patients with craniosynostosis undergoing calvarial vault expansion with and without intraoperative tissue expansion of the scalp. METHODS: The present analysis was an institutional review board-approved, retrospective cohort study involving 40 consecutive patients at the University of Missouri Hospitals and Clinics (Columbia, Missouri, USA) who underwent calvarial vault expansion for nonsyndromic craniosynostosis between June 1, 2009 and June 30, 2012. Patients were divided into two sequential cohorts: the first 20 underwent calvarial vault expansion without intraoperative tissue expansion; the second 20 underwent calvarial vault expansion with intraoperative tissue expansion. The main outcome measures included presence or absence of wound healing complications (persistent scabbing or slow-healing wounds, hardware exposure, need for operative wound revision or healed but widened scars), with documented postoperative follow-up of at least three months. The primary end point was the presence of a well-healed scar; the secondary end point was the need for an operative revision. RESULTS: Patients in the intraoperative tissue expansion group had a higher percentage of well-healed scars (73.6%) than those in the nonexpansion group (42.1%) (P=0.0487). This difference was primarily due to scar widening in the nonexpansion group. CONCLUSIONS: The present study demonstrated that the use of intraoperative tissue expansion in patients with nonsyndromic craniosynostosis who underwent calvarial vault expansion resulted in a greater likelihood of a well-healed incision with a lower rate of poor scarring.


HISTORIQUE: Après une expansion de la calotte crânienne, la cicatrisation peut être compliquée par la tension exercée sur les lambeaux du cuir chevelu. OBJECTIFS: Comparer les résultats de la cicatrisation chez des patients ayant une craniosténose soignée par expansion de la calotte crânienne accompagnée ou non d'une expansion peropératoire des tissus du cuir chevelu. MÉTHODOLOGIE: La présente analyse, une étude de cohorte rétrospective approuvée par le conseil d'examen de l'établissement, a été réalisée auprès de 40 patients consécutifs des hôpitaux et des cliniques de l'université du Missouri (Columbia, Missouri, États-Unis) qui ont été soignés pour une craniosténose non syndromique au moyen d'une expansion de la calotte crânienne entre le 1er juin 2009 et le 30 juin 2012. Les chercheurs ont divisé les patients en deux cohortes séquentielles. Les 20 premiers ont subi une expansion de la calotte crânienne sans expansion peropératoire des tissus et les 20 suivants, une expansion de la calotte crânienne accompagnée d'une expansion peropératoire des tissus. Les principales mesures de résultats incluaient la présence ou l'absence de complications de la cicatrisation (gales persistantes ou guérison ralentie, exposition à un corps étranger, nécessité d'une chirurgie corrective ou guérison, mais élargissement des cicatrices), étayée par un suivi postopératoire d'au moins trois mois. Le paramètre primaire était la présence d'une cicatrice bien guérie et le paramètre secondaire, la nécessité de procéder à une chirurgie corrective. RÉSULTATS: Les patients faisant partie du groupe soigné par expansion peropératoire des tissus présentaient un pourcentage plus élevé de cicatrices bien guéries (73,6 %) que ceux du groupe n'ayant pas subi cette expansion (42,1 %) (P=0,0487). Cette différence était surtout attribuable à l'élargissement des cicatrices dans le groupe n'ayant pas subi cette expansion. CONCLUSIONS: La présente étude démontre que l'expansion peropératoire des tissus chez les patients ayant une craniosténose non syndromique soignés par expansion de la calotte crânienne était plus susceptible de présenter une incision qui guérissait bien et qui cicatrisait mieux.

20.
Plast Surg (Oakv) ; 23(1): 31-4, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25821770

RESUMEN

BACKGROUND: Single-suture craniosynostosis (SSC) is a common craniofacial condition with potential neurocognitive sequelae. OBJECTIVE: To quantify any long-term functional academic and behavioural difficulties of children with SSC as indicated by the need for individualized education programs (IEPs), despite having undergone surgical treatment. METHODS: Records of all school-age patients from 1992 to 2011 who underwent operative intervention for SSC were identified. Fifty-nine patients' guardians were contacted by telephone to provide informed consent for completion of a mailed standardized questionnaire querying demographic information as well as information regarding the patient's health, family and educational history; specifically whether the patient had ever been provided educational support as delineated in an IEP. The primary outcome measure was the history of the patient being assigned educational support as delineated in an IEP. RESULTS: Thirty-seven consenting guardians completed and returned the standardized questionnaire (response rate 62.7%). Twenty-one patients were male and 16 were female, with an age range of five to 14 years (mean age 10.2 years). Eleven (29.7%) patients had a previous history of or currently were receiving educational support delineated in an IEP. CONCLUSIONS: A higher proportion of school-age patients with a history of SSC (status postsurgical intervention) in the present study received educational support delineated in an IEP than the proportion of IEPs in the general student population of the United States (11.3%).


HISTORIQUE: La craniosténose à suture simple (CSS) est un problème craniofacial courant qui s'associe à un potentiel de séquelles neurocognitives. OBJECTIF: Quantifier les problèmes scolaires et comportementaux à long terme chez les enfants ayant une CSS, tels qu'ils sont indiqués par la nécessité de recourir à des programmes d'enseignement individualisé (PEI) malgré un traitement chirurgical. MÉTHODOLOGIE: Les chercheurs ont extrait les dossiers de tous les patients d'âge scolaire qui ont subi une intervention chirurgicale en raison d'une CSS entre 1992 et 2011. Ils ont téléphoné aux tuteurs ou aux parents de 59 patients afin d'obtenir leur consentement éclairé et de leur poster un questionnaire standardisé sur la démographie et la santé des patients, leur famille et leurs antécédents éducatifs. Ils ont demandé si le patient a déjà reçu un soutien éducatif expliqué dans un PEI, ce qui constituait la mesure d'issue primaire. RÉSULTATS: Trente-sept parents et tuteurs consentants ont rempli et envoyé le questionnaire standardisé (taux de réponse de 62,7 %). Ainsi, 21 patients étaient des garçons et 16 des filles, et tous avaient de cinq à 14 ans (âge moyen de 10,2 ans). Onze patients (29,7 %) avaient des antécédents de soutien éducatif expliqué dans un PEI ou recevaient encore un tel soutien. CONCLUSIONS: Dans la présente étude, une plus forte proportion de patients d'âge scolaire ayant une histoire de CSS (intervention sur l'état postchirurgical) a reçu un soutien éducatif exposé dans un PEI que la proportion de PEI dans la population générale d'élèves des États-Unis (11,3 %).

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