Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data.

Methods: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital.

Differences in nonlinear heart dynamics during rest and exercise and for different training.

Objective: In this work we want to analyze differences in nonlinear properties between rest and exercise and also to study the permanent effects of physical exercise on heart rate dynamics.

Approach: It has been shown that physical exercise alters heart dynamics by increasing heart rate and decreasing variability, modifying spectral power and linear correlations, etc. We hypothesize that physical exercise should also reduce nonlinearity in the heartbeat time series.

Correlations in magnitude series to assess nonlinearities: Application to multifractal models and heartbeat fluctuations.

The correlation properties of the magnitude of a time series are associated with nonlinear and multifractal properties and have been applied in a great variety of fields. Here we have obtained the analytical expression of the autocorrelation of the magnitude series (C_{|x|}) of a linear Gaussian noise as a function of its autocorrelation (C_{x}). For both, models and natural signals, the deviation of C_{|x|} from its expectation in linear Gaussian noises can be used as an index of nonlinearity that can be applied to relatively short records and does not require the presence of scaling in the time series under study.

Tumor-induced rickets in a child with a central giant cell granuloma: a case report.

Tumor-induced osteomalacia/rickets is a rare paraneoplastic disorder associated with a tumor-producing fibroblast growth factor 23 (FGF23). We present a child with symptoms of rickets as the first clinical sign of a central giant cell granuloma (CGCG) with high serum levels of FGF23, a hormone associated with decreased phosphate resorption. A 3-year-old boy presented with a limp and 6 months later with painless growth of the jaw.

Endovascular treatment of intracranial aneurysms using the Pipeline Flex embolization device: a case series of 30 consecutive patients.

Background: The Pipeline Flex embolization device has some peculiarities in comparison with the previous generation device. Despite recent reports of the modified delivery system, its safety is still unknown.

Objective: To illustrate the intraprocedural and periprocedural complication rate with this new device in 30 consecutive patients.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures are affected. Clinical assignment is a difficult challenge due to the high phenotypic variability observed between syndromes. During routine diagnostics, we screened 182 Spanish craniosynostosis probands, implementing a four-tiered cascade screening of FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1.

Pipeline endovascular device for the treatment of intracranial aneurysms at the level of the circle of Willis and beyond: multicenter experience.

Background And Purpose: The aim of our study was to evaluate the safety and efficacy of the pipeline endovascular device for the treatment of anterior circulation aneurysms at the level of the circle of Willis and beyond.

Methods: A consecutive series of 25 patients (24 unruptured and one ruptured) with anterior circulation aneurysms treated with a pipeline endovascular device were included in the analysis.

Results: We found two minor clinical events (resolved within 7 days of the procedure), one major event (symptoms present after 7 days), and no mortality.

Management of oral lesions in Lesch-Nyham syndrome.

Lesh-Nyhan Syndrome is a hereditary disorder that affects the way in which the body handles the production and breakdown of purines. One of its main characteristic is self-mutilation. We present a new appliance which allows healing to occur.

Tissue-engineered oral mucosa for mucosal reconstruction in a pediatric patient with hemifacial microsomia and ankyloglossia.

Many types of soft tissue grafts have been used for the reconstruction of oral mucosal defects. The best results are achieved with mucosal grafts; however, when large areas must be grafted, sufficient donor tissue is not available. Tissue engineering represents an alternative method to obtain sufficient autologous tissue for reconstructing oral wounds.

Orthopedic and orthodontic treatment in central giant cell granuloma treated with calcitonin.

Central giant cell granuloma of the jaw is a benign lesion of unknown etiology that occurs with very low frequency. It mainly occurs in children and young adults and is more common in the mandible. The most common treatment is surgical removal; however, alternative therapies (intralesional injections of corticosteroids, interferon alpha, and calcitonin) have been used in order to avoid undesirable damage to the jaws and teeth.

Bioabsorbable osteofixation devices in craniosynostosis. Clinical experience in 216 cases.

Introduction: The pursuit of bone fixation systems capable of affording appropriate stability for osteosynthesis has gone through several stages from the use of metal wires, plates, and screws to the current stage of bioabsorbable systems. In our Pediatric Neurosurgery Service and Craniofacial Surgery Unit we began employing these systems in June 1997. The object of this paper is to present a review of the bioabsorbable materials most commonly used in pediatric age, and more specifically in treating craniosynostosis, to describe the characteristics of each one of them and our experience.

Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases.

Objective: To review the results and complications of the surgical treatment of craniosynostosis in 283 consecutive patients treated between 1999 and 2007.

Patients And Methods: Our series consisted of 330 procedures performed in 283 patients diagnosed with scaphocephaly (n=155), trigonocephaly (n=50), anterior plagiocephaly (n=28), occipital plagiocephaly (n=1), non-syndromic multi-suture synostosis (n=20), and with diverse craniofacial syndromes (n=32; 11 Crouzon, 11 Apert, 7 Pfeiffer, 2 Saethre-Chotzen, and 2 clover-leaf skull). We used the classification of Whitaker et al.

Spanish Registry for Embolization of Small Intracranial Aneurysms with Cerecyte Coils (SPAREC) Study. Early Experience and Mid-Term Follow-up Results.

This study aimed to report the results obtained in treating small ruptured and unruptured intracranial aneurysms using Cerecyte coils. A prospective, non-randomized multicenter registry operating in Spain with a reporting period between May 2005 and September 2007.We present clinical and angiographic results for 48 small aneurysms (26 ruptured, five with III cranial nerve paresis, and 17 incidental) that had undergone six months' follow-up.

[Endovascular treatment of cerebral vasospasm due to aneurysmal subarachnoid hemorrhage].

Cerebral vasospasm remains a leading cause of death and disability in patients with aneurysmal subarachnoid hemorrhage. When vasospasm becomes refractory to maximal medical treatment, endovascular therapies may be considered as an option to increase cerebral blood flow to prevent cerebral infarction. Endovascular techniques include transluminal balloon angioplasty and intra-arterial infusion of vasorelaxants.

Dental management of oral self-mutilation in neurological patients: a case of congenital insensitivity to pain with anhidrosis.

Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain. Oral self-mutilation is also a characteristic sign. In this article, we present the case of an infant, aged 22 months, who showed these clinical characteristics and was treated with a dental device to prevent the patient from injuring her tongue.

Pediatric facial fractures: children are not just small adults.

Radiologic imaging is essential for diagnosing pediatric facial fractures and selecting the optimal therapeutic approach. Trauma-induced maxillofacial injuries in children may affect functioning as well as esthetic appearance, and they must be diagnosed promptly and accurately and managed appropriately to avoid disturbances of future growth and development. However, these fractures may be difficult to detect on images, and they are frequently underreported.

Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.

Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities.

[Positional plagiocephaly. Diagnosis and treatment].

Introduction: Positional plagiocephaly is nowadays the most frequent consultation at pediatric neurosurgical departments in Spain and western countries. Another important issue is the confusion existing in literature regarding terminology, physiopathology, differential diagnosis with true synostosis and, of course, proper recommendations for treatment.

Objectives: To clarify all these concepts and present a protocol that was recently asked by the Health Administration of the Community of Madrid.

[Endoscopically assisted fronto-orbitary correction in trigonocephaly].

The development of multidisciplinar Units for Craneofacial Surgery has led to a considerable decrease in morbidity even in the cases of more complex craniofacial syndromes. The use of minimally invasive techniques for the correction of some of these malformations allows the surgeon to minimize the incidence of complications by means of a decrease in the surgical time, blood salvage and shortening of postoperative hospitalization in comparison to conventional craniofacial techniques. Simple and milder craniosynostosis are best approached by these techniques and render the best results.

[Presurgical orthopedic treatment for cleft lip and palate].

Introduction: A multidisciplinary approach with several specialits allows a complete treatment for Cleft Lip and Palate. We show our experience in presurgical orthopedic treatment in these patients, their advantages, their problems and the results.

Material And Methods: Since 1999 presurgical orthopedy has been applied to 12 patients (3 bilateral cleft lip and palate and 9 unilateral cleft lip and palate).

Treatment of an infant with a rare cleft resolved with use of an orthopedic appliance.

Cases of bilateral complete clefts of the primary palate and unaffected secondary palate are very rare. One of these cases as well as a new method of presurgical orthopedics to solve the protruding premaxilla protrusion is presented.

Fronto-orbital remodeling without orbito-naso-frontal bandeau.

Introduction: Fronto-orbital bilateral advance is the procedure of choice for the treatment of craniosynostosis affecting most of the anterior area of the skull and orbitomalar regions. The aim of the technique is to achieve a supra-orbital bilateral bar and a frontal bone. We have introduced a modification in order to simplify the technique.

Surgical treatment of trigonocephalies and associated hypoteleorbitism.

Premature closure of metopic suture is a relatively uncommon form of craniosyostosis with an estimated incidence of 0,3 per 1000 live births, comprising about 7% of surgical craniosynostosis referred to craniofacial centers. A broad phenotypical spectrum spreads from minor metopic ridges to severe trigonocephaly with pterional indentation supraorbital bar retrusion, temporal and parietal compensating bossings and hypotelorism. Most of the cases arise spontaneously although autosomal dominant inheritance has been described and association with cromosomal abnormalities and different syndromes has been widely reported.

Operative treatment of the anterior synostotic plagiocephaly: analysis of 45 cases.

An operative series of 45 patients with anterior synostotic plagiocephaly is analyzed. In the cases of six children it was not possible to visualize synostosis of the cranial sutures on plain X-ray films or three-dimensional CT. Primary procedures were performed at an average age of 14 months with an average postoperative follow-up of 47.

Wandering spleen and gastric volvulus.

Gastric volvulus and wandering spleen are related to anomalies in the intraperitoneal visceral attachments. When encountered during infancy, they have a congenital origin with acquired predisposing factors. Wandering spleen is a rare clinical entity with a diverse form of presentation.