Objectives:
To describe the initial care practices for children with Pierre Robin sequence (PRS) and analyze the factors predicting the severity of the obstruction breathing disorders.
Design:
A ...retrospective single-center study of 150 children with PRS.
Setting:
Single tertiary care center, Regional Competence Center for the diagnosis and treatment of PRS.
Patients:
A total of 150 children with PRS consecutively followed between 1986 and 2017. Group 1 comprises children without specific respiratory management; group 2, children requiring prone positioning to alleviate their respiratory distress symptoms; and group 3, children requiring nasopharyngeal airway tube (NT) or nonconservative surgical treatment.
Main outcome measures:
Evolution and results of the initial treatment of PRS.
Results:
Forty-two percent (n = 63) were attributed to group 1, 39% (n = 50) to group 2, and 19% (n = 29) to group 3. Preterm birth, birth weight, or associated congenital malformations were not significantly different between the groups. However, the age of exclusive oral feeding was significantly different: 1 day (quartiles: 0-3) for group 1; 11 days (quartiles: 1-28) for group 2; 39 days (quartiles: 19-111) for group 3 (P < .0001). Considering the NT, its use relieves the upper airway obstruction, assessed by a respiratory polygraphy, in 14 children.
Conclusions:
Nasopharyngeal airway tube has become our major first-line treatment, avoiding more complex procedures in most of the cases. The achievement of exclusive oral feeding seems to be a good predictor of the severity of respiratory symptoms in PRS.
Cephalohematoma is a common pathology in newborns. Observation is the primary treatment for most patients with small uncomplicated cephalohematoma. Conversely, a large cephalohematoma can lead to ...calcification with unesthetic local deformation or deformational plagiocephaly. The objective of the study was to evaluate the iatrogenic risk associated with early puncture under local anesthesia and oral sucrose. This is a retrospective study of 67 consecutive newborns followed at Montpellier University Hospital, France, between 2010 and 2017. Large cephalohematoma was defined on the basis of the bump projection. Due to the uncertainty of the spontaneous resorption and the risk of calcification after 4 weeks which render the needle aspiration ineffective, puncture was performed between 2 and 4 weeks of life after coagulation evaluation and ultrasound of the skull and scalp. Puncture was performed in 43 boys (64%) and 24 (36%) girls between day 15 and day 30 after birth. The cephalohematoma maximal projection measured by ultrasound ranged from 9 to 13 mm (Q1,Q4) with a median value of 12 mm. No puncture-related complication was recorded during the intervention and at the 1-month follow-up visit.
Conclusion
: In newborns with large and persistent unesthetic cephalohematoma, puncture under local anesthesia with oral sucrose can be safely proposed between day 15 and day 30 after birth.
What is Known:
•
Infant cephalohematoma is a frequent pathology of newborns, consisting of a traumatic subperiosteal hematoma of the skull. Most cephalohematomas are small and require no treatment because they spontaneously disappear within the first month.
•
Large and non-resorptive cephalohematomas may have significant esthetic and functional consequences.
What is New:
•
Early puncture under local anesthesia is a safe, effective, and rapid procedure, decreasing the risk of persistent skull deformities.
•
Puncture can be proposed for newborns with a large (high projection and/or high angle connection) persistent anesthetic cephalohematoma, between day 15 and day 30, before spontaneous calcification
.
Language is a distinguishing characteristic of our species, and the course of its evolution is one of the hardest problems in science. It has long been generally considered that human speech requires ...a low larynx, and that the high larynx of nonhuman primates should preclude their producing the vowel systems universally found in human language. Examining the vocalizations through acoustic analyses, tongue anatomy, and modeling of acoustic potential, we found that baboons (Papio papio) produce sounds sharing the F1/F2 formant structure of the human ɨ æ ɑ ɔ u vowels, and that similarly with humans those vocalic qualities are organized as a system on two acoustic-anatomic axes. This confirms that hominoids can produce contrasting vowel qualities despite a high larynx. It suggests that spoken languages evolved from ancient articulatory skills already present in our last common ancestor with Cercopithecoidea, about 25 MYA.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2–1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia ...and facial abnormalities due to abnormal neural crest cell (NCC) migration and differentiation. To date, three genes have been identified: TCOF1, POLR1C, and POLR1D. Despite a large number of patients with a molecular diagnosis, some remain without a known genetic anomaly.
We performed exome sequencing for four individuals with TCS but who were negative for pathogenic variants in the known causative genes. The effect of the pathogenic variants was investigated in zebrafish.
We identified three novel pathogenic variants in POLR1B. Knockdown of polr1b in zebrafish induced an abnormal craniofacial phenotype mimicking TCS that was associated with altered ribosomal gene expression, massive p53-associated cellular apoptosis in the neuroepithelium, and reduced number of NCC derivatives.
Pathogenic variants in the RNA polymerase I subunit POLR1B might induce massive p53-dependent apoptosis in a restricted neuroepithelium area, altering NCC migration and causing cranioskeletal malformations. We identify POLR1B as a new causative gene responsible for a novel TCS syndrome (TCS4) and establish a novel experimental model in zebrafish to study POLR1B-related TCS.
IntroductionOver the last 20 years, surgical simulation has evolved tremendously from bench models to “high-fidelity” virtual reality surgical simulators. The main objective of these simulators is to ...acquire the technical skills to be transferred to the operating room without any risk for patients. In this intent, both simulator and the progression of the simulation training process must be validated and follow the standards. Nevertheless, a facet of surgical simulation lacks a deep consideration: the haptic feedback, which is essential in most surgical procedures, is rarely assessed and the place of haptic fidelity is unclear. Then, how can we determine the place of haptic fidelity in surgical simulation training?
Endoscopic skull base surgery allows minimal invasive therapy through the nostrils to treat infectious or tumorous diseases. Surgical and anatomical education in this field is limited by the lack of ...validated training models in terms of geometric and mechanical accuracy. We choose to evaluate several consumer-grade materials to create a patient-specific 3D-printed skull base model for anatomical learning and surgical training.
Four 3D-printed consumer-grade materials were compared to human cadaver bone: calcium sulfate hemihydrate (named Multicolor), polyamide, resin and polycarbonate. We compared the geometric accuracy, forces required to break thin walls of materials and forces required during drilling.
All materials had an acceptable global geometric accuracy (from 0.083mm to 0.203mm of global error). Local accuracy was better in polycarbonate (0.09mm) and polyamide (0.15mm) than in Multicolor (0.90mm) and resin (0.86mm). Resin and polyamide thin walls were not broken at 200N. Forces needed to break Multicolor thin walls were 1.6-3.5 times higher than in bone. For polycarbonate, forces applied were 1.6-2.5 times higher. Polycarbonate had a mode of fracture similar to the cadaver bone. Forces applied on materials during drilling followed a normal distribution except for the polyamide which was melted. Energy spent during drilling was respectively 1.6 and 2.6 times higher on bone than on PC and Multicolor.
Polycarbonate is a good substitute of human cadaver bone for skull base surgery simulation. Thanks to short lead times and reasonable production costs, patient-specific 3D printed models can be used in clinical practice for pre-operative training, improving patient safety.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Objective:
This study aimed to analyze the morphology of the hypoplasic mandible and its evolution during the growth period to better understand how it differs from the pediatric healthy mandible.
...Method:
Three-dimensional mandibular models of hypoplasic and healthy children aged from 39 gestational weeks to 7 years old were analyzed with a morphometric method including data clustering. Morphological distinctions between pathological and healthy mandibles were highlighted. Bilateral and unilateral mandibular hypoplasia were distinguished.
Results:
The study sample was composed of 31 hypoplasic children and as many sex- and age-matched healthy children. Morphological distinctions between pathological and healthy mandibles were highlighted only from the first year of life. In bilateral hypoplasia, the overall mandibular dimensions were reduced while there was only a ramus asymmetry in unilateral mandibular hypoplasia (mean ± SD of the difference between the Grp03c and Grp03b subgroups: 6.80 ± 6.37 – P value = 1.64e–3 for the height of the left ramus versus 0.18 ± 4.18 – P value = .82 for the height of the right ramus). Supervised classification trees were built to identify the pathology and discriminate unilateral from bilateral mandibular hypoplasia (prediction rates = 81% and 84%, respectively).
Conclusions:
Based on a morphometric analysis, we demonstrated that mandibular hypoplasia significantly impacts the mandibular morphology only from the first year of life, with a distinction between bilateral and unilateral hypoplasia.
Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA ...cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.
Abstract
Introduction
Velopharyngeal insufficiency (VPI) is a controversial pathology with many surgical options.
Objective
To compare pharyngoplasty and retropharyngeal fat grafting and to build a ...prognostic tool to achieve perfect speech.
Methods
Retrospective observational cohort study of 114 patients operated for VPI from 1982 to 2019 in a single tertiary center. The instrumental assessment was made using an aerophonoscope and nasofibroscopy. The variables sex, age, genetic syndromes, and type of diagnosis were analyzed with logistic regression model adjusted with propensity score. To generalize results and to build a surgical predictive tool, a marginal analysis concludes the study.
Results
Among the patients (median range age 7 4–48), 63 (55.26%) underwent pharyngoplasty and 51 (44.74%) graft. The graft group had no complication, but it had a failure rate of 7.84%. The pharyngoplasty group had no failure, but one patient had postoperative obstructive sleep apnea. The marginal analysis demonstrated that age lower than 7 years, cleft lip and palate, absence of syndrome, and intermittent VPI were important predictive factors of good result regardless of surgical technique.
Conclusions
Without a statistical demonstration of the superiority of pharyngoplasty over graft, and in the uncertainty of literature background, our perfect-speech patient profile represents an important tool for a postoperative forecast of results in which, like in the Master Mind game, every feature has to be considered not individually but as a pattern of characteristics whose association contributes to the outcome.
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