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1.
BMC Infect Dis ; 23(1): 394, 2023 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-37308819

RESUMEN

BACKGROUND: Early data on COVID-19 (based primarily on PCR testing) indicated a low burden in Sub-Saharan Africa. To better understand this, this study aimed to estimate the incidence rate and identify predictors of SARS-CoV-2 seroconversion in the two largest cities of Burkina Faso. This study is part of the EmulCOVID-19 project (ANRS-COV13). METHODS: Our study utilized the WHO Unity protocol for cohort sero-epidemiological studies of COVID-19 in general population. We conducted random sampling stratified by age group and sex. Individuals aged 10 years and older in the cities of Ouagadougou and Bobo-Dioulasso, Burkina Faso were included and surveyed at 4 time points, each 21 days apart, from March 3 to May 15, 2021. WANTAI SARS-CoV-2 Ab ELISA serological tests were used to detect total antibodies (IgM, IgG) in serum. Predictors were investigated using Cox proportional hazards regression. RESULTS: We analyzed the data from 1399 participants (1051 in Ouagadougou, 348 in Bobo-Dioulasso) who were SARS-CoV-2 seronegative at baseline and had at least one follow-up visit. The incidence rate of SARS-CoV-2 seroconversion was 14.3 cases [95%CI 13.3-15.4] per 100 person-weeks. The incidence rate was almost three times higher in Ouagadougou than in Bobo-Dioulasso (Incidence rate ratio: IRR = 2.7 [2.2-3.2], p < 0.001). The highest incidence rate was reported among women aged 19-59 years in Ouagadougou (22.8 cases [19.6-26.4] per 100 person-weeks) and the lowest among participants aged 60 years and over in Bobo-Dioulasso, 6.3 cases [4.6-8.6] per 100 person-weeks. Multivariable analysis showed that participants aged 19 years and older were almost twice as likely to seroconvert during the study period compared with those aged 10 to 18 years (Hazard ratio: HR = 1.7 [1.3-2.3], p < 0.001). Those aged 10-18 years exhibited more asymptomatic forms than those aged 19 years and older, among those who achieved seroconversion (72.9% vs. 40.4%, p < 0.001). CONCLUSION: The spread of COVID-19 is more rapid in adults and in large cities. Strategies to control this pandemic in Burkina Faso, must take this into account. Adults living in large cities should be the priority targets for vaccination efforts against COVID-19.


Asunto(s)
COVID-19 , Adulto , Humanos , Femenino , Persona de Mediana Edad , Anciano , SARS-CoV-2 , Burkina Faso , Ciudades , Incidencia , Estudios Prospectivos
2.
BMC Infect Dis ; 21(1): 896, 2021 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-34479501

RESUMEN

BACKGROUND: The world has high hopes of vaccination against COVID-19 to protect the population, boost economies and return to normal life. Vaccination programmes are being rolled out in high income countries, but the pandemic continues to progress in many low-and middle-income countries (LMICs) despite implementation of strict hygiene measures. We aim to present a comprehensive research protocol that will generate epidemiological, sociological and anthropological data about the COVID-19 epidemic in Burkina Faso, a landlocked country in West Africa with scarce resources. METHODS: We will perform a multidisciplinary research using mixed methods in the two main cities in Burkina Faso (Ouagadougou and Bobo-Dioulasso). Data will be collected in the general population and in COVID-19 patients, caregivers and health care professionals in reference care centers: (i) to determine cumulative incidence of SARS-CoV-2 infection in the Burkinabe population using blood samples collected from randomly selected households according to the WHO-recommended protocol; (ii) develop a score to predict severe complications of COVID-19 in persons infected with SARS-CoV-2 using retrospective and prospective data; (iii) perform semi-structured interviews and direct observation on site, to describe and analyze the healthcare pathways and experiences of patients with COVID-19 attending reference care centers, and to identify the perceptions, acceptability and application of preventive strategies among the population. DISCUSSION: This study will generate comprehensive data that will contribute to improving COVID-19 response strategies in Burkina Faso. The lessons learned from the management of this epidemic may serve as examples to the country authorities to better design preventive strategies in the case of future epidemics or pandemics. The protocol was approved by the Ministry for Health (N° 2020-00952/MS/CAB/INSP/CM) and the Health Research Ethics Committee in Burkina Faso (N° 2020-8-140).


Asunto(s)
COVID-19 , Burkina Faso/epidemiología , Humanos , Estudios Prospectivos , Estudios Retrospectivos , SARS-CoV-2
3.
Br J Neurosurg ; : 1-3, 2021 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-34747686

RESUMEN

BACKGROUND: Children with Chiari Malformation type II (CM-II) have an increased risk of sleep apnoea. The aim of the study was to describe the management of patients with CM-II in relation to sleep apnoea syndrome, clinical symptoms and magnetic resonance imaging (MRI) findings. CASE SERIES PRESENTATION: The paper reports 8 consecutive patients with CM-II followed between September 2013 and April 2017. The prevalence of sleep apnoea syndrome was high with 6 out of 8 patients having mild-to-severe sleep apnoea. Patients with severe sleep apnoea syndrome (3 patients) were treated with upper airway surgery and/or noninvasive ventilation. CONCLUSION: Our findings highlight the importance of respiratory polygraphy in the management of patients with CM-ΙΙ. Poly(somno)graphy is recommended in the follow-up care of children with CM-II.

4.
J Craniofac Surg ; 32(7): e615-e616, 2021 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-33654032

RESUMEN

ABSTRACT: Patients with craniofacial microsomia often require multiple surgical interventions to address both hard and soft tissue defects. For improvement of soft tissue defects, microvascular free tissue transfers have been widely performed after puberty. To camouflage facial asymmetry, early fat grafting was performed on five six-month-old patients, and acceptable outcomes were obtained without overcorrection. This result suggests that early fat grafting in craniofacial microsomia is useful to camouflage asymmetrical facial contours.


Asunto(s)
Síndrome de Goldenhar , Procedimientos de Cirugía Plástica , Tejido Adiposo/trasplante , Preescolar , Cara/cirugía , Asimetría Facial/cirugía , Síndrome de Goldenhar/cirugía , Humanos
5.
J Craniofac Surg ; 32(1): 42-45, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32804821

RESUMEN

AIM AND SCOPE: Our standard management is to operate isolated sagittal synostosis around 4 months of age because of morphological and cognitive outcomes. However, some patients present late and the likelihood of spontaneous remodeling is low in isolated sagittal craniosynostosis operated on after 12 months of age with a limited technique. The preliminary result of a modified technique for forehead remodeling and subtotal calvarial remodeling in nonsyndromic scaphocephalic children with late presentation is presented. PATIENTS AND METHODS: All patients older than 1 with isolated sagittal synostosis assessed between 2011 and 2015, over 1 year of age at the time of surgery, with available pre and postoperative computed tomography-scans, were retrospectively included into the study. The following parameters were collected: (1) age at surgery, (2) duration of the procedure, (3) surgical technique, (4) fronto-nasal angle before and after surgery and (5) forehead width before and after surgery. RESULTS: Ten patients aged between 15 months and 6 years were retrospectively included. Delayed surgery was due to late presentation or initial parental reluctance. All patients presented with a transversal narrowing of the forehead and an anterior bulge. Mean age at surgery was 28 months and mean follow up was 23 months (1-4 years). Measurements showed significant improvement of both the fronto-nasal angle and the width of the forehead. CONCLUSIONS: Late-presenting scaphocephalic patients operated on after 12 months of age require forehead remodeling to achieve satisfactory aesthetic results. Modified forehead remodeling by splitting the forehead sagittally into 2 symmetrical halves and adding a midline bone strip is a safe and feasible way to widen the forehead. Long term follow-up is needed to assess this modified technique.


Asunto(s)
Craneosinostosis , Procedimientos de Cirugía Plástica , Niño , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Craneotomía , Estética Dental , Frente/diagnóstico por imagen , Frente/cirugía , Humanos , Lactante , Estudios Retrospectivos , Resultado del Tratamiento
6.
Am J Med Genet A ; 182(1): 122-129, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31680459

RESUMEN

Upper airway obstruction is a common feature in pycnodysostosis and may cause obstructive sleep apnea (OSA). The aim of our study was to analyze sleep-disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10 years was performed. Six patients had severe OSA and/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4 ± 2.6 years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow-up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep-disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA.


Asunto(s)
Picnodisostosis/fisiopatología , Síndromes de la Apnea del Sueño/fisiopatología , Apnea Obstructiva del Sueño/fisiopatología , Niño , Preescolar , Presión de las Vías Aéreas Positiva Contínua/métodos , Femenino , Humanos , Lactante , Masculino , Polisomnografía , Picnodisostosis/complicaciones , Picnodisostosis/cirugía , Síndromes de la Apnea del Sueño/complicaciones , Síndromes de la Apnea del Sueño/cirugía , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/cirugía
7.
J Craniofac Surg ; 31(3): 711-715, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32011541

RESUMEN

AIM AND SCOPE: Children with Apert syndrome have a characteristic inversion of the orientation of the palpebral fissures, an increase of the inter-orbital distance, telecanthus, and exorbitism. Here, Le Fort III osteotomy with subcranial bipartition and distraction osteogenesis was evaluated as a tool to improve the position of the palpebral fissures in Apert syndrome. MATERIAL AND METHODS: All patients with Apert syndrome who underwent Le Fort 3 osteotomy with subcranial bipartition and distraction osteogenesis using an external device, with canthopexy, between 2009 and 2014, with available preoperative and postoperative frontal photographs, were included into the study. Palpebral fissure inclination was measured. Ratios of the intercanthal distance (ICD) to the outer-canthal distance (OCD) and the interpupillary distance to the OCD were computed. Preoperative and postoperative values were compared using the Wilcoxon signed-ranks test. RESULTS: The authors included 15 patients with Apert syndrome. The mean age at surgery was 10 ±â€Š3.4 years and the average follow-up was 7.3 ±â€Š2.9 years. We found normalization of the negative inclination of the palpebral fissures (right eye: 10.7 ±â€Š2.4 degrees preoperatively versus 7.0 ±â€Š3.1 degrees postoperatively, P < 0.001; left eye: 12.4 ±â€Š3.9 degrees preoperatively versus 8.7 ±â€Š4.1 degrees postoperatively, P = 0.01) and a significant reduction of the inter-pupillary distance: OCD ratio (0.717 ±â€Š0.027 preoperatively versus 0.699 ±â€Š0.030 postoperatively, P = 0.03). These modifications were stable on the long term. There was no significant change of the inter-canthal distance:OCD ratio. CONCLUSIONS: Le Fort III facial advancement with subcranial bipartition and distraction improves the position and orientation of the orbital region in children with Apert syndrome.


Asunto(s)
Acrocefalosindactilia/cirugía , Órbita/cirugía , Adolescente , Niño , Párpados/cirugía , Femenino , Humanos , Masculino , Osteogénesis por Distracción , Osteotomía Le Fort , Periodo Posoperatorio
8.
J Craniofac Surg ; 31(6): 1841-1843, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32833831

RESUMEN

Pre-emptive planning to optimize safety and outcome is a defining principle of pediatric craniofacial surgery, in which "procedures that come before" should enhance and not compromise procedures that are planned to follow.A technical modification of fronto-orbital advancement/remodeling in 2-stage hypertelorism surgery for craniofrontonasal dysplasia is presented, where orbital hypertelorism is accompanied by coronal craniosynostosis. Fronto-orbital advancement/remodeling undertaken by this approach preserves bone in the supero-lateral bandeau and provides optimal quality bone stock for the subsequent orbital box shift osteotomy. In this way the second procedure is protected and enhanced by optimal planning of the primary procedure, with potential benefits to safety, quality, and outcome of the final result.


Asunto(s)
Anomalías Craneofaciales/cirugía , Hipertelorismo/cirugía , Órbita/cirugía , Anomalías Craneofaciales/complicaciones , Craneosinostosis/complicaciones , Craneosinostosis/cirugía , Humanos , Hipertelorismo/etiología , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos/cirugía
9.
Am J Med Genet A ; 173(12): 3136-3142, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29136349

RESUMEN

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.


Asunto(s)
Anomalías Múltiples/genética , Agenesia del Cuerpo Calloso/diagnóstico , Atresia de las Coanas/diagnóstico , Anomalías Craneofaciales/diagnóstico , Encefalocele/diagnóstico , Cara/anomalías , Cardiopatías Congénitas/diagnóstico , Agenesia del Cuerpo Calloso/genética , Atresia de las Coanas/genética , Estudios de Cohortes , Anomalías Craneofaciales/clasificación , Anomalías Craneofaciales/genética , Encefalocele/genética , Encefalocele/patología , Huesos Faciales/anomalías , Femenino , Cardiopatías Congénitas/genética , Humanos , Lactante , Masculino , Nariz/anomalías , Fenotipo , Secuenciación del Exoma
10.
Childs Nerv Syst ; 32(3): 519-25, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26767840

RESUMEN

PURPOSE: The premature fusion of the sagittal suture (scaphocephaly) may be associated with intracranial cerebrospinal fluid (CSF) dynamics alterations resulting in pericerebral effusion (PE) and/or ventriculomegaly. However, the etiology and development of such collections are not fully elucidated. The aims of this study are to clarify the characteristics of intracranial CSF collection in scaphocephaly, consider the role of surgery, and analyze the prognostic factor on CSF dynamics. METHOD: The pre- and postoperative cerebral imaging of 63 children (48 boys, 15 girls) with scaphocephaly who underwent craniotomy with decompression of the superior sagittal sinus (SSS) before 6 months of age between 2008 and 2015 were retrospectively studied. The PE was compared to the estimated value corrected for age (normal control). Evans' index (EI) was calculated. Correlations among these values and indices were analyzed. RESULT: Preoperatively, 36 of 63 patients (57 %) had larger PE than expected, and 36 of 63 patients (57 %) had pathological EI (EI > 0.3), and among them, 26 (46 %) had both. Patients with large PE tended to have pathological EI (p = 0.005). The PE and the EI were significantly decreased postoperatively (p < 0.001). The PE decreased faster than the expected natural course in 59 of 63 patients (92 %) postoperatively. CONCLUSION: The precise comparison with estimated PE prevalence corrected for age showed that PE can be found in more than half of the children with scaphocephaly, associated with ventriculomegaly. Surgery has a significant efficacious role in decreasing those CSF collections. The long-term significance of such CSF collections in scaphocephaly is still to be elucidated.


Asunto(s)
Craneosinostosis/líquido cefalorraquídeo , Hidrocefalia/etiología , Craneosinostosis/complicaciones , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
11.
Childs Nerv Syst ; 32(2): 327-35, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26597681

RESUMEN

BACKGROUND: The 9p deletion syndrome is a rare condition, which associates trigonocephaly, facial dysmorphism and developmental delay. The neuroradiological aspects of this syndrome have not yet been described. The purpose of this article is to identify the clinical and neuroradiological features, that should be recognized by all specialists treating these children, for a proper and early diagnosis. METHODS: Among patients with trigonocephaly treated at our institution, we retrospectively analyzed the clinical and neuroradiological aspects of children with genetically confirmed 9p deletion syndrome. RESULTS: 6 patients were identified. Beside trigonocephaly, the most frequent clinical findings were small ears, long philtrum, upslanting palpebral fissures, flat nasal bridge and variable psycho-motor delay. Hypertelorism was present in 4 of 6 patient, which is opposite to the hypotelorism typical of non-syndromic trigonocephaly. Among neuroradiological findings, large, anteriorly rotated sylvian cisterns and altered shape of the septum pellucidum were found in all patients, as well as the compression of the frontal cortex due to the metopic synostosis (MS). A thin or dysmorphic corpus callosum and a diffuse white matter hypoplasia were present in more than half of the cases. Futhermore we compared these MRI findings with those of a control group of 30 non-syndromic trigonocephalies. CONCLUSIONS: Some recurrent neuroradiological alterations can be found in 9p deletion syndrome. The presence of these signs on MRI of a trigonocephalic patient should raise the suspicion of an underlying chromosomal alteration, such as the 9p deletion syndrome and prompt genetic investigations.


Asunto(s)
Agenesia del Cuerpo Calloso/patología , Encéfalo/anomalías , Deleción Cromosómica , Anomalías Craneofaciales/patología , Craneosinostosis/patología , Discapacidades del Desarrollo/patología , Encéfalo/patología , Estudios de Casos y Controles , Cromosomas Humanos Par 9 , Cuerpo Calloso/patología , Humanos , Lactante , Imagen por Resonancia Magnética , Estudios Retrospectivos , Tabique Pelúcido/anomalías , Tabique Pelúcido/patología , Sustancia Blanca/anomalías , Sustancia Blanca/patología
12.
Birth Defects Res A Clin Mol Teratol ; 103(4): 306-10, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25808521

RESUMEN

BACKGROUND: New forms and varieties of craniosynostoses are continuously identified due to the current increased interest of clinicians and genetists especially since the introduction of microarray-based comparative genomic hybridization (Array-CGH) techniques in the diagnostic setting of patients with craniofacial anomalies. METHODS: In this report, we describe the case of an infant who associated the early fusion of the metopic and both the coronal sutures. The interaction of the early fusion of the anterior group of the main cranial sutures gave the infant a particular clinical phenotypes with a Y configuration of the frontal bone and a globally reduced size of the skull. Such a deformity was observed in utero and was subsequently confirmed by the postnatal imaging of the head. RESULTS: This phenotype was never described previously in antenatal period to our knowledge. The array-CGH showed a heterozygous 9.0 Mb deletion in the chromosomal region 7p21.1p21.3 encompassing approximately 25 other genes, spanning from THSD7A to TWIST1/FERD3L. CONCLUSION: This case further illustrates the variability of the clinical spectrum of craniofacial disorders associated with TWIST1 abnormalities. It is important to note that the Saethre-Chotzen syndrome caused by microdeletion is generally characterized by a mental disability. However, of interest, the postoperative psychomotor development of the child considered hereby was within the normal limits.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 7/genética , Suturas Craneales/fisiopatología , Craneosinostosis/genética , Craneosinostosis/fisiopatología , Acrocefalosindactilia/diagnóstico , Hibridación Genómica Comparativa/métodos , Craneosinostosis/clasificación , Craneosinostosis/diagnóstico , Humanos , Proteínas Nucleares/genética , Análisis de Secuencia de ADN , Proteína 1 Relacionada con Twist/genética
13.
Am J Dermatopathol ; 37(10): 773-7, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25321089

RESUMEN

The authors report the histopathologic and ultrastructural features of gold threads, which were implanted in the cheek subcutis of a 77-year-old woman 10 years ago. These particles did not give rise to any adverse reactions and were fortuitously discovered by the surgeon during a facelift. Histopathology showed a nonpolarizing exogenous material consisting of black oval structures surrounded by a capsule of fibrosis and by a discrete inflammatory reaction with a few giant cells. In some cases, only a long fibrous tract surrounded by a moderate mononucleate infiltrate was observed. The wires were characterized with scanning electron microscopy, and X-ray microanalysis revealed a specific peak at 2.2 keV representative of gold that was absent in the control skin sample. As this value is specific for gold, it confirms the presence of the metal in the patient's skin. The histopathologic appearance of gold threads is particularly distinctive and easily recognizable by dermatopathologists.


Asunto(s)
Técnicas Cosméticas , Oro/uso terapéutico , Rejuvenecimiento , Envejecimiento de la Piel , Anciano , Biopsia , Microanálisis por Sonda Electrónica , Femenino , Oro/análisis , Humanos , Microscopía Electrónica de Rastreo , Resultado del Tratamiento
14.
J Craniofac Surg ; 26(4): 1258-60, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26080169

RESUMEN

This report presents our preliminary experience with the effect of early fat grafting (FG) (at ≥ 6 months of age) in timely bone reconstruction of the orbitozygomatic area in patients with Treacher Collins syndrome. FG is performed 2 to 3 consecutive times after the age 6 months. Bone reconstruction is performed ≥ 6 months after the last FG session. This protocol was applied in 3 patients. There was no need for further reconstruction of the lower eyelids in 2 patients. Malar bone reconstructions, using calvarial bone grafts, were performed in all of the patients. Eighteen months after bone reconstruction, there was limited absorption of the bone grafts. Early FG of the orbitozygomatic area improves contour and tissue quality, restores volume, and can possibly minimize bone resorption following zygomatic bone framework reconstruction.


Asunto(s)
Tejido Adiposo/trasplante , Disostosis Mandibulofacial/cirugía , Procedimientos de Cirugía Plástica/métodos , Cigoma/cirugía , Preescolar , Femenino , Humanos , Masculino
16.
J Craniofac Surg ; 26(1): 243-4, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25478982

RESUMEN

BACKGROUND: The coronal incision is a standard surgical approach in craniofacial surgery. It has undergone many modifications during the years in an attempt to optimize the esthetic appearance of the scar, including the sawtooth "stealth incision" and the sinusoidal incision. METHODS: We describe an alternative coronal approach extending posteriorly from the postauricular region over the occiput, resulting in an axial scar. RESULTS AND DISCUSSION: The posterior coronal incision provides equivalent exposure of the craniofacial skeleton while placing the scar in an esthetically optimal location that is much more likely to be camouflaged by hair, especially in patients with thinning hair or male-pattern baldness. It avoids a vertical temporal scar that is prone to widening and also allows the incision to be placed remotely from any neurosurgical hardware in the frontotemporal region. It may be used in craniofacial or neurosurgical procedures requiring access to the posterior or anterior cranial vaults or the upper craniofacial skeleton down to the maxillary alveolar rim.


Asunto(s)
Hueso Occipital/cirugía , Procedimientos de Cirugía Plástica/métodos , Cicatriz/prevención & control , Estética , Hueso Frontal/cirugía , Cabello/crecimiento & desarrollo , Humanos , Procedimientos Neuroquirúrgicos/instrumentación , Hueso Temporal/cirugía
17.
J Craniofac Surg ; 26(4): 1163-4, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26080149

RESUMEN

PURPOSE: The aim of this study was to quantify the relationship between globe protrusion (GP), length of medial and lateral walls, interzygomatic distance, and interorbital angle in syndromic faciocraniosynostoses. METHODS: The axial slices of computed tomography of the orbits of 43 patients with faciocraniosynostosis (31 with Crouzon syndrome and 12 with Apert syndrome) and 23 control subjects were measured with the Image J software. The following 5 variables were quantified: the degree of GP, the length of the medial and lateral walls, the interzygomatic distance, and the interorbital angle. RESULTS: Independent t-tests revealed significant differences between the patients and the controls regarding the mean values of all variables measured. The degree of GP was better correlated with the interorbital angle (r = 0.81) than with the medial wall length (r = 0.73). No correlation was found between GP and lateral orbital wall length. CONCLUSIONS: In syndromic faciocraniosynostoses, GP is highly correlated with the interorbital angle. The increment in the interorbital angle is a natural geometric consequence of the fact that a decrease in the orbital depth is not adequately compensated by an increase in the distance between the lateral orbit rims.


Asunto(s)
Acrocefalosindactilia/diagnóstico por imagen , Disostosis Craneofacial/diagnóstico por imagen , Órbita/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adolescente , Niño , Preescolar , Ojo/diagnóstico por imagen , Femenino , Humanos , Lactante , Masculino
18.
Birth Defects Res A Clin Mol Teratol ; 100(4): 250-9, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24578066

RESUMEN

BACKGROUND: fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. These syndromes share coronal craniosynostosis and characteristic facial skeletal features, although Apert syndrome (AS) is characterized by a more dysmorphic facial skeleton relative to Crouzon (CS), Muenke (MS), or Pfeiffer syndromes. METHODS: Here we perform a detailed three-dimensional evaluation of facial skeletal shape in a retrospective sample of cases clinically and/or genetically diagnosed as AS, CS, MS, and Pfeiffer syndrome to quantify variation in facial dysmorphology, precisely identify specific facial features pertaining to these four syndromes, and further elucidate what knowledge of the causative FGFR mutation brings to our understanding of these syndromes. RESULTS: Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF. CONCLUSION: Our quantitative analysis of facial phenotypes demonstrate subtle variation within and among craniosynostosis syndromes that might, with further research, provide information about the impact of the mutation on facial skeletal and nonskeletal development. We suggest that precise studies of the phenotypic consequences of genetic mutations at many levels of analysis should accompany next-generation genetic research and that these approaches should proceed cooperatively.


Asunto(s)
Craneosinostosis , Huesos Faciales/anomalías , Enfermedades Genéticas Congénitas , Mutación Missense , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Sustitución de Aminoácidos , Craneosinostosis/genética , Craneosinostosis/patología , Femenino , Enfermedades Genéticas Congénitas/genética , Enfermedades Genéticas Congénitas/patología , Humanos , Lactante , Recién Nacido , Masculino , Síndrome
19.
Childs Nerv Syst ; 30(1): 165-72, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24136083

RESUMEN

BACKGROUND: Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically. PATIENTS AND METHODS: We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis (n = 40) and age-matched control group (n = 18). Our study included 16 children with FGFR3 p.Pro250Arg mutation (mean age 6.1 months), 10 with TWIST-1 mutation (mean age7.6 months) and 14 patients with isolated bicoronal synostosis (mean age 6.1). RESULTS: We observed a significantly smaller FM area in FGFR3 group compared to control group and isolated brachycephaly group (p = 0.001 and p = 0.038, respectively). The mean FM area in FGFR3 group was 426.13 mm(2) (p = 0.001), while in TWIST-1 group was 476.34 mm(2) (p = 0.103), and in isolated brachycephaly group 489.43 mm(2) (p = 0.129) compared to control group: 528.90 mm(2). The posterior segment of the sagittal diameter of the FM and its width as well as the bi-interoccipital synchondrosis diameters were significantly smaller in FGFR3 group compared to control group. In TWIST-1 group, the only altered dimension was the FM anterior segment of the sagittal diameter (p = 0.008). We did not observe any significant alteration of FM in patients with isolated brachycephaly compared to control group. DISCUSSION AND CONCLUSIONS: The FM area is significantly altered in FGFR3-related brachycephaly, whereas in patients with Saethre-Chotzen syndrome (TWIST-1 mutation) the mean FM area is similar to control group. This study confirms the importance of FGFRs on FM growth whereas TWIST-1 seems to have a minor role.


Asunto(s)
Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Foramen Magno/diagnóstico por imagen , Foramen Magno/cirugía , Femenino , Humanos , Imagenología Tridimensional/métodos , Lactante , Recién Nacido , Masculino , Síndrome , Tomografía Computarizada por Rayos X/métodos
20.
J Craniofac Surg ; 25(1): 39-41, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24336038

RESUMEN

BACKGROUND: Many techniques and protocols are currently used in the treatment of scaphocephaly worldwide, including total calvarial remodeling and minimally invasive strip craniectomies. This study reviews current techniques and protocols used in young infants (aged ≤ 6 months) as well as the outcomes in terms of reoperation rates. METHODS: A short questionnaire was designed including questions about the preferred surgical techniques, transfusion protocols, and reoperation rates. Surgeons from the International Society of Craniofacial Surgery and the International Society for Pediatric Neurosurgery were requested to respond to this questionnaire online or by e-mail. Responses during a 2-week period were collated and analyzed using Fisher exact test. RESULTS: A total of 91 surgeons responded from the craniofacial centers around the world, of which 93.4% completed the questionnaire. Most respondents were from North America and Europe (35% and 20%, respectively). The operative volume was less than 15 cases per year in 56%, and the bicoronal skin incision was most commonly used (81%). Postoperative drainage was not performed by 55% but was statistically more common with use of the bicoronal incision (P = 0.029). Of the respondents, 66% used calvarial remodeling, and 34% strip craniectomy. Blood was most commonly transfused at a hemoglobin level under 8 g/dL (31%), with a mean transfusion rate of 66%. Of the respondents, 44% transfused in more than 90% of the cases, whereas only 18% transfused in 20% or less of the cases. The mean reoperation rate for secondary fusion was 1.7%, and 41% of the respondents claimed a 0% reoperation rate. A statistically higher frequency of reoperation was reported by centers with a case load of more than 15 cases per year (P = 0.035), and no statistical correlation was found with the type of surgical technique. CONCLUSIONS: Our survey of neurosurgeons and craniofacial plastic surgeons worldwide shows that for young infants treated for scaphocephaly, the bicoronal incision is most commonly used and a greater number of surgeons do not use drains. A great variability in the transfusion protocols used in the care of these patients as well as a low reoperation rate were also found. The latter however may suggest a lack of strict monitoring in most centers. Overall, this study presents a snapshot of the current surgical treatment of this subset of patients and should serve as a basis for quality improvement and outcome monitoring in their surgical management.


Asunto(s)
Craneosinostosis/cirugía , Craneosinostosis/diagnóstico , Craneotomía/métodos , Comparación Transcultural , Europa (Continente) , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Reoperación , Resultado del Tratamiento
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