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BACKGROUND: SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, rare heterozygous loss-of-function variants in SMAD6 were demonstrated to increase the risk of disparate clinical disorders including cardiovascular disease, craniosynostosis and radioulnar synostosis. Only two unrelated patients harbouring biallelic SMAD6 variants presenting a complex cardiovascular phenotype and facial dysmorphism have been described. CASES: Here, we present the first two patients with craniosynostosis harbouring homozygous SMAD6 variants. The male probands, both born to healthy consanguineous parents, were diagnosed with metopic synostosis and bilateral or unilateral radioulnar synostosis. Additionally, one proband had global developmental delay. Echocardiographic evaluation did not reveal cardiac or outflow tract abnormalities. MOLECULAR ANALYSES: The novel missense (c.[584T>G];[584T>G], p.[(Val195Gly)];[(Val195Gly)]) and missense/splice-site variant (c.[817G>A];[817G>A], r.[(817g>a,817delins[a;817+2_817+228])];[(817g>a,817delins[a;817+2_817+228])], p.[(Glu273Lys,Glu273Serfs*72)];[(Glu273Lys,Glu273Serfs*72)]) both locate in the functional MH1 domain of the protein and have not been reported in gnomAD database. Functional analyses of the variants showed reduced inhibition of BMP signalling or abnormal splicing, respectively, consistent with a hypomorphic mechanism of action. CONCLUSION: Our data expand the spectrum of variants and phenotypic spectrum associated with homozygous variants of SMAD6 to include craniosynostosis.
Assuntos
Craniossinostoses , Rádio (Anatomia)/anormalidades , Sinostose , Ulna/anormalidades , Humanos , Masculino , Craniossinostoses/diagnóstico , Craniossinostoses/genética , Rádio (Anatomia)/metabolismo , Ulna/metabolismo , Mutação de Sentido Incorreto/genética , Proteína Smad6/genética , Proteína Smad6/metabolismoRESUMO
BACKGROUND: Different techniques have been described to correct scaphocephaly. In authors' institution, total cranial vault remodeling (TCVR) was the standard of care. To limit the extent of surgery and the need for transfusion, the technique was minimized to extended strip craniectomy (ESC) without helmet therapy. This retrospective study compares outcome and morbidity between ESC and TCVR. METHODS: Twenty-seven scaphocephalic patients were included. The ESC was performed in 9 patients between 2012 and 2014, and TCVR in 17 patients between 2008 and 2016. Data on blood loss and transfusion rate, duration of surgery, length of hospital stay (LOS), head circumference, and cephalic index (CI) were collected retrospectively. A cosmetic outcome score (COS) was developed to rate esthetic outcome since CI is a limited and crude measurement of cosmetic outcome. RESULTS: The LOS was identical in both groups, but duration of surgery was significantly shorter in ESC (Pâ<â0.0001). Transfusion rate appeared higher in the TCVR group, but differences were not significant (Pâ=â0.11). Cosmetic outcome appeared slightly worse in the ESC group, but results were not significantly different (Pâ=â0.66). There was, however, a significant improvement in postoperative CI in the TCVR group (Pâ<â0.0001). CONCLUSION: The only advantage of ESC was the reduced duration of surgery, but this could not prevent the need for transfusion in this group of patients. The improvement of the CI was significantly less pronounced after ESC, but the COS was not significantly worse in the ESC group. The scar and LOS were similar in both groups. Therefore, our findings indicate that minimizing TCVR to ESC without helmet therapy does not provide significant advantages.
Assuntos
Craniossinostoses/cirurgia , Cefalometria , Criança , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniotomia/métodos , Feminino , Humanos , Lactente , Tempo de Internação , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/cirurgia , Resultado do TratamentoRESUMO
Introduction: CPP's present as slow-growing intraventricular neoplasms arising from epithelium of choroid plexus. They account for approximately 0.5-4% of intracranial neoplasms in adults and children, respectively. A trifocal presentation is exceedingly rare. Research question: We describe the case of a trifocal presentation of a CPP and explored the importance of genetic analyses. Material and methods: We present the case of an 18-year old adolescent who was treated for a fourth ventricular and suprasellar neoplasm. Brain MRI revealed an intraventricular lesion in the fourth ventricle, as well as a suprasellar lesion and a lesion located in the left internal auditory meatus. An adult-subtype CPP (WHO grade 1) was confirmed by means of histological and genetic analyses in the first two regions. Results: Optimal treatment strategy remains controversial, although it is accepted that surgical resection alone remains the gold standard, whereas chemoradiotherapy is reserved for specific cases. There are only a few articles reporting on a multifocal presentation or the coexistence of synchronous histologically different primary brain neoplasms. Reports on genetic examination are scarce. Discussion and conclusion: CPP's should be included in the differential diagnosis of posterior fossa tumors, both in children and adults. Genetic analyses (TP53/TERT mutations) should be considered, since they entail important diagnostic, prognostic and therapeutic implications. When a TERT mutation is present, adjuvant radiotherapy should be used with caution, since it plays a role in tumorigenesis, even when GTR could not be achieved. There is an association between TERT methylation status and malignant transformation, indicating that these patients should be followed more closely.
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The objective of this study is to determine the value of using 3D planning tools and 3D printed cutting guides in Le Fort III osteotomies with external frame distraction osteogenesis. The process of planning and transfer of the virtual planning to the operating room is illustrated with 5 case. The virtual planning is transferred to the operating room using a 3D-printed supra-orbital reference bar with puzzle connections for the planned osteotomy guides. Different systems are presented to transfer the vector of distraction and the position of the external midface distractor. Three-dimensional planning tools and cutting guides help to design the Le Fort III osteotomy and the distraction vector, to anticipate possible difficulties, and to avoid adverse events.
Assuntos
Disostose Craniofacial , Osteogênese por Distração , Cefalometria , Disostose Craniofacial/diagnóstico por imagem , Disostose Craniofacial/cirurgia , Face , Humanos , Osteotomia de Le FortRESUMO
Neurosurgery as a distinct speciality has been around for 100 years. Some of the earliest women neurosurgeons were European, emerging from the 1920's onwards. Here we detail the rise of women in neurosurgery across Europe with a decade by decade account of big events and firsts across the continent. The emerging themes are seen in stories of pioneers with enormous resilience, camaraderie, trailblazing and triumphing in a system with great obstacles and challenges. Our journey through this chronology brings us to the modern day, where most European countries have or have had a woman neurosurgeon and the future for women in neurosurgery in the continent is very bright.
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Neurocirurgiões/história , Neurocirurgia/história , Médicas/história , Europa (Continente) , Feminino , História do Século XX , História do Século XXI , Humanos , Neurocirurgiões/tendências , Neurocirurgia/tendências , Médicas/tendênciasRESUMO
A collaborative global working group of women neurosurgeons in multiple countries at different stages of their neurosurgical careers undertook the task of researching the history of European women in neurosurgery. While doing so, we happened upon many remarkable female neurosurgeons who overcame great adversity, made tremendous contributions to society and institutional neurosurgery, and displayed numerous talents beyond the operating room. In the first part of this paper, we recounted a chronology of female neurosurgeons in Europe, highlighting the most remarkable achievements of women in every decade, from the 1920's to 2020. In this paper, we honor fascinating women in European neurosurgery, both historical characters and living legends. These women have overcome great adversity and have also excelled in a huge variety of pursuits. While some were themselves refugees, we also have uncovered noteworthy examples of women who immersed themselves in humanitarian missions and who tried to better the world through political action. There are stories of women beating the odds, taking on biased institutions and proving their worth, in spite of the prevailing system. Most inspirational, we have discovered through our comprehensive research on the history of women in European neurosurgery that the future is increasingly female.
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Liderança , Neurocirurgiões/história , Neurocirurgia/história , Procedimentos Neurocirúrgicos/história , Médicas/história , Europa (Continente) , Feminino , Previsões , História do Século XX , História do Século XXI , Humanos , Neurocirurgiões/tendências , Neurocirurgia/tendências , Procedimentos Neurocirúrgicos/tendências , Médicas/tendênciasRESUMO
Langerhans cell histiocytosis is a tumor-like condition characterized by idiopathic proliferation of Langerhans cells. The disease may involve the skeleton as well as other organs systems. Bone involvement may be solitary or multifocal. Unifocal osseous Langerhans cell histiocytosis may involve virtually any bone, with the calvarium being most frequently involved. Plain radiography, computed tomography and magnetic resonance imaging are the most used techniques for detection and characterization of the lesion. The use of ultrasound is less known, although it may be a valuable technique in detection and follow-up of superficially located lesions such as calvarial lesions. This case report describes an 8-year-old girl, in whom the lesion was initially detected by ultrasound. Furthermore, ultrasound was used to evaluate spontaneous resolution of the lesion. The knowledge of ultrasound characteristics may be important to avoid unnecessary radiation and gadolinium administration, particularly in a pediatric population.
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A general practitioner faces regularly soft tissue swelling in otherwise healthy children. Delay in diagnosis of soft tissue malignancies is often due to asymptomatic nature and the unfamiliarity with the age-dependent differential diagnosis. Hence, an accurate knowledge is important to prevent important delay in diagnosis of potential malignancies.
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Imageamento por Ressonância Magnética , Postura , Doenças da Medula Espinal/complicações , Doenças da Medula Espinal/diagnóstico por imagem , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/diagnóstico por imagem , Adolescente , Humanos , MasculinoRESUMO
The posterior fossa syndrome (PFS) consists of transient cerebellar mutism, cognitive symptoms, and neurobehavioral abnormalities that typically develop in children following posterior fossa (PF) tumor resection. The pathophysiological substrate of the syndrome remains unclear. We investigated eight children of whom five presented with a variety of clinically relevant non-motor language symptoms associated with cognitive and behavioral disturbances after PF tumor resection. Four children developed transient cerebellar mutism followed by dysarthric speech. Non-motor language symptoms consisted of agrammatism, anomia, impaired verbal fluency, comprehension deficits, and a spontaneous speech. Neurocognitive deficits included executive dysfunctions, concentration deficits, and visuo-spatial disorders. In addition, all children presented with behavioral and affective disturbances. Functional neuroimaging studies during the phase of mutism by means of SPECT showed perfusional deficits in the anatomo-clinically suspected supratentorial areas subserving language dynamics, syntax, naming, executive functioning, affective regulation, and behavior. A significant improvement of frontal perfusional deficits paralleled the clinical remission of mutism. These results add to the view that the PFS might represent a cerebello-cerebral diaschisis phenomenon, reflecting the metabolic impact of the cerebellar lesion on supratentorial cognitive and affective functions.