bluuebunny/crossref_metadata_2025 huggingface dataset:
Deformations of the Midfacial Complex in Twins with Orofacial Clefts
Authors: Singh G. D. , Kutcipal Elizabeth , McNamara James A.
Published: October 2018

Objective

To investigate the craniofacial morphology in twins with cleft lip and/or palate (OFC) and localize differences, compared with noncleft (NC) twins.

Design

Retrospective study.

Setting

School of Dentistry, University of Michigan.

Sample

Posteroanterior cephalographs of 32 pairs of dizygotic, concordant, like-sexed twins. The NC group consisted of 20 pairs of noncleft twins. The cleft twin (CT) group consisted of 12 pairs of concordant twins (both exhibited OFC).

Main Outcome Measures

Changes in linear distances, differences in form difference matrices, and visualization of deformations of thin-plate spline (TPS) transformation grids.

Results

Linear analysis indicated significant reductions in interorbital distance (≈12%; p < .01) and reduced maxillary heights (≈27%; p < .001) in CTs. Euclidean distance matrix analysis strongly supported these findings, confirmed that the form matrices were significantly different (p < .05), and indicated relative decreases in internasal width (≈12%) and maxillary base width (≈10%). The TPS analysis produced a transformation grid that showed superoinferior compression, suggesting that OFC is associated with a downward displacement of the nasomaxillary complex as well as distortion in the region of the maxillary base.

Conclusions

Twins with orofacial clefts differ from their unaffected counterparts by a midfacial skeletal morphology characterized by decreases in interorbital and internasal widths and relatively shorter maxillary basal heights and widths. Although most of these differences appear to be due to compression and regionalized deformation, the resultant inferior displacement of the medial region of the midface concomitant with horizontal widening in the presumptive palatal region may be a development model associated with OFC.
Posteroanterior Cephalometric Analysis of the Parental Craniofacial Morphology in Orofacial Clefting
Authors: McIntyre G. T. , Mossey P. A.
Published: October 2018

Objective

To evaluate the parental craniofacial morphology in orofacial clefting (OFC).

Design

Case-control posteroanterior cephalometric study.

Setting

The Department of Orthodontics, University of Dundee Dental School, Scotland, United Kingdom.

Participants

Ninety-two parents from a completely ascertained sample of 286 Scottish babies with nonsyndromic OFC and 43 comparison group volunteers from the University of Dundee Dental School.

Main Outcome Measures

A conventional cephalometric analysis was used to measure linear distances and their ratios, angles, and areas. Two-sample Student's t tests and a discriminant analysis were applied to the data, and the clinically important statistically significant variables were identified using an accepted protocol.

Results

Sixty-four linear distances, 10 ratios, 52 angles, and 7 areas statistically significantly differed between the parental and comparison groups (p < .01). Of these, 62 linear distances (22%), 9 ratios (45%), 41 angles (41%), and 6 areas (24%) were clinically important. Asymmetry was a feature of the results. Canonical variates analysis correctly classified 91.3% of the parental group and 90.6% of the comparison group using a series of 36 variables.

Conclusions

The parental craniofacial morphology in OFC differs significantly from the noncleft population. A larger superolateral face and smaller central midface and, in particular, a clinically significantly smaller maxillary width, in conjunction with skeletal asymmetry, characterize the parents of Scottish children with OFC. These features may be of morphogenetic importance in the etiopathogenesis of OFC in this ethnic group.
Shprintzen-Goldberg Syndrome: Case Report
Authors: Topouzelis N. , Markovitsi E. , Antoniades K.
Published: October 2018

Objective

The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of disorders characterized by craniosynostosis and marfanoid features. The aim of this study was to present a new sporadic case of the syndrome and describe in detail the findings at the maxillofacial region.
Mandibular Distraction Osteogenesis Using an Intraoral Device and Bite Plate for a Case of Hemifacial Microsomia
Authors: Takashima Mariko , Kitai Noriyuki , Mori Yoshihide , Murakami Shumei , Kreiborg Sven , Takada Kenji
Published: October 2018

Objective

To present orthodontic treatment combined with mandibular distraction osteogenesis using an intraoral device and a bite plate in a patient with hemifacial microsomia, severe facial asymmetry, and unilateral mandibular hypoplasia.

Patient

An 8-year-old girl exhibited mandibular deviation resulting from hypoplasia of the mandibular condyle and ramus on the left side. The patient was treated with an intraoral device for mandibular distraction osteogenesis, bite plate, and hybrid-type functional appliance. Facial asymmetry was improved, and the mandibular ramus was elongated in an anterior and primarily posterior direction with slightly posterior and superior displacement of the proximal segment. Postdistraction treatment results have been stable for 1 year. At the 1-year follow-up, the volume of the lateral and medial pterygoid muscles on the left side had increased. The condyle and disc on the right temporomandibular joint moved well and in harmony at open mouth position, and a rotational movement of the left temporomandibular joint was observed.
The Impact of Cleft Type on Early Vocal Development in Babies with Cleft Palate
Authors: Hardin-Jones Mary , Chapman Kathy L. , Schulte Julie
Published: October 2018

Objective

The purpose of the present investigation was to examine the impact of cleft type on early sound development in children with cleft palate (with or without cleft lip).

Participants

The participants included 53 babies with unrepaired cleft palate aged 8 to 10 months. Thirty-five babies had cleft lip and palate (CLP) and 18 had cleft palate only (CPO).

Main Outcome Measures

Spontaneous vocalizations of the CLP and CPO groups were compared to determine whether differences were evident in canonical babbling, size of consonant inventory as well as place and manner of consonant production, and frequency of vocalization.

Results

Student's t tests revealed no significant differences between the groups in canonical babbling, size of consonant inventory, place and manner of consonant production, or frequency of vocalization. However, there was a trend for babies in the CPO group to produce fewer compensatory stop consonants and more anterior place features. In addition, a larger percentage of children in the CPO group had entered the canonical babbling stage at the time of this study.

Conclusions

In general, the findings of this study suggested that cleft type does not appear to play a significant role in early consonant development for babies with cleft palate. Additional study using a larger CPO group is recommended to further investigate the trend toward better performance noted in this group.
Early Neuromotor Behavior in Craniosynostotic Rabbits
Authors: Mitchell Ronal L. , Barbano Timothy E. , Losken H. Wolfgang , Siegel Michael I. , Mooney Mark P.
Published: October 2018

Objective

Clinical studies have shown both abnormal and normal mental and psychomotor development in patients with craniosynostosis. However, a number of confounding variables make study comparisons difficult. For these reasons, the present study describes early neuromotor development in an homogeneous rabbit model of craniosynostosis.

Design

Fifty-three newborn New Zealand white rabbit kits were used: 13 were wild-type, normal control rabbits; 23 had delayed-onset coronal suture synostosis (onset is approximately 57 to 74 days post conception); and 17 had early-onset coronal suture synostosis (onset is approximately 21 to 25 days post conception). All rabbits were observed individually and blindly in an open field, daily for 2 minutes, from birth through the first 14 days of life. The first day of emergence of 10 different mature behaviors and developmental events (in developmental order of appearance: falling, righting, cliff avoidance, first sign of fur, body elevation, head elevation, circling, dragging, eye opening, and hopping) was recorded for each kit. Daily activity levels (grid crossing), and body weights were also recorded.

Results

Significant group (p < .05) differences were observed in 9 of 11 measures. Both synostosed groups had significantly (p < .05) accelerated onset of behavior in 8 of 9 measures, compared with wild-type controls. The early-onset synostosis group had significantly (p < .05) accelerated onset in five of eight measures, compared with wild-type controls, and three of eight measures, compared with the delayed-onset synostosis group.

Conclusions

Synostotic rabbits showed precocious neuromotor development possibly through frontal lobe constrictions and altered brain activity from increased intracranial pressure, although primary genetic effects cannot be ruled out.
Cephalometric Assessment of the Posterior Airway Space in Patients with Cleft Palate after Palatoplasty
Authors: Rose Edmund , Thissen Ulrike , Otten Jörg-Elard , Jonas Irmtrud
Published: October 2018

Objective

Upper airway obstruction and mouth breathing influence facial growth and development, which may result in breathing disorders while asleep. The purpose of the present investigation was to analyze cephalometric alterations between patients with cleft palate and a noncleft control group in an obstructive sleep disordered breathing-specific tracing.

Setting

The study was conducted in the cleft palate clinic of a university hospital.

Participants

Fifty-three subjects with a mean age of 12.3 ± 3.7 years (range 6.3 to 17.2 years). The cohort included 33 subjects (13 females, 20 males; mean age 12.1 ± 3.8 years, mean body mass index 17.5 ± 2.9 kg/m2) with surgical closure of a unilateral or bilateral cleft palate and a matched control of noncleft participants. None of the subjects suffered from sleep disordered breathing syndrome.

Results

Compared with the controls, patients with cleft palate had a significant narrow anterior-posterior dimension of the pharynx at the level of the maxillary plane and the narrowest width, a more downward hyoid position, and a longer uvula.

Conclusions

Patients with cleft palate appear to present pharyngeal and craniofacial distinctive features that characterize patients with obstructive sleep disordered breathing and differ from those of a noncleft control.
Treatment of Scars with Er:YAG Laser in Patients with Cleft Lip: A Preliminary Report
Authors: Francesco Nocini Pier , D'Agostino Antonio , Trevisiol Lorenzo , Bertossi Dario
Published: October 2018

Objective

Although one goal in cleft lip surgery is to avoid serious scarring, residual scars are often observed after primary surgery. The goal of this preliminary report was to present the standardized application of laser technology to reduce the appearance of residual scars.

Design

Ten patients with scarring after unilateral and bilateral cleft lip surgery were treated with a Dual Mode erbium yttrium-aluminum-garnet laser. This laser was recently introduced and had been used only for cosmetic applications, skin resurfacing, and correction of acne scars.

Results

An improvement in the clinical appearance of the laser-treated scars was observed after the first treatment, with continued improvement after the second laser session. The clinically observed improvements were corroborated by the patients’ reports concerning satisfaction with the result.

Conclusions

The combined mechanisms of ablation/coagulation and shrinking of the skin caused by the laser, in addition to observed patient satisfaction and low risk associated with the procedure, suggest that this treatment approach can be effective in the correction of residual scarring in patients with cleft lip.
An Appraisal of Three Methods of Rating Facial Deformity in Patients with Repaired Complete Unilateral Cleft Lip and Palate
Authors: Al-Omari I. , Millett D. T. , Ayoub A. , Bock M. , Ray A. , Dunaway D. , Crampin L.
Published: October 2018

Objectives

To evaluate the reliability of clinical assessment, two-dimensional color transparencies and three-dimensional imaging for evaluating the residual facial deformity in patients with repaired complete unilateral cleft lip and palate (UCLP) and compare the ratings of facial deformity made by health care professionals with those made by lay assessors.

Patients and Participant

Thirty-one randomly selected subjects aged 10 to 30 years with repaired complete UCLP. Five professionals and five laypersons evaluated each subject's residual cleft-related facial deformity using clinical assessment, two-dimensional color transparencies, and three-dimensional images.

Main Outcome Measures

The facial deformity of the full face, lip, nose, and midface were scored using a 5-point ordinal scale on two occasions with a 1-month interval. Intra- and interexaminer agreements were calculated from weighted kappa statistics. Bootstrap permutation tests were used to detect any differences in agreement.

Results

Assessment of facial deformity showed good reproducibility across the three assessment media (κ = 0.42 to 0.83, SE 0.08). Clinical assessment among lay assessors, however, was poor to moderate (κ = 0.16 to 0.58, SE 0.07). For all assessors, there was no difference in the two nonclinical media relative to the standard clinical assessment for assessments of the full face (p = .377). For assessments of the lip or nose, transparency scores were in greater agreement with the clinical scores than were the three-dimensional assessment scores (p = .017 and .011, respectively). For rating the midface, the three-dimensional scores were in greater agreement with the clinical scores than were the color transparencies scores (p = .047).

Conclusions

In comparison with lay assessors, clinical assessment among professionals was more reproducible. This was not so for nonclinical media. The equivalence of using the color transparencies and three-dimensional media relative to the clinical assessment depends on the region of the face being considered.
Experimental Tooth Movement into Bone Induced by Recombinant Human Bone Morphogenetic Protein-2
Authors: Kawamoto Tatsuo , Motohashi Nobuyoshi , Kitamura Atsushi , Baba Yoshiyuki , Suzuki Shoichi , Kuroda Takayuki
Published: October 2018

Objective

The development of biomaterials for secondary bone grafting to the alveolar cleft, recombinant human morphogenetic protein-2 (rhBMP-2) may have great potential to promote osseous regeneration. The purpose of this study was to investigate the osteoinductive activity of low-dose rhBMP-2 (10 μg/100 μL) and the biological response of newly generated bone to orthodontic stimulation, compared with previous results using high-dose rhBMP-2 (40 μg/100 μL).

Method

After extraction of the maxillary first premolars, bone defects were surgically created in eight adult beagle dogs using a 5-mm-diameter trepan bar. The rhBMP-2 with a PLGA/gelatin sponge complex (PGS) made of gelatin and polylactic acid polyglycolic acid copolymer was immediately implanted. The osteoinductive activity of rhBMP-2 and tooth movement into the newly generated bone was evaluated based on histological and morphometric examination.

Results

Dramatic histological and morphometric differences were found in the time course of bone remodeling between low- and high-dose rhBMP-2. The onset of bone remodeling occurred significantly earlier in low-dose rhBMP-2. During experimental tooth movement, in contrast to high-dose rhBMP-2, with which root resorption occurred, only partial cementum resorption occurred on the pressure side with low-dose rhBMP-2.

Conclusion

These results indicated that the proper dosage of rhBMP-2 should be determined for successful clinical application.
Three-Dimensional Morphology of the Palate in Subjects with Isolated Cleft Palate at the Stage of Permanent Dentition
Authors: Šmahel Zbynek , Trefný Pavel , Formánek Pavel , Müllerová Živa , Peterka Miroslav
Published: October 2018

Objective

Three-dimensional analysis of palate size and shape in patients with isolated cleft palate at the stage of permanent dentition.

Design

Cross-sectional study using Fourier transform profilometry.

Subjects

Twenty-nine randomly selected dental casts of approximately 15-year-old boys with isolated cleft palate and 28 dental casts of normal boys of the same age.

Interventions

All patients were operated on by the same method (pushback and pharyngeal flap surgery) at a mean age of 4.5 years.

Main Outcome Measures

Data on the palate height in 210 defined locations (pixels).

Results

The palate in isolated clefts is narrower throughout its whole extent and lower from the level of the first premolars. The difference, as compared with controls, increases in a posterior direction. At the level of the first molars, palatal height is reduced by one-quarter, the area of the transversal section by more than one-third. The shaping of the palate vault is, on average, symmetrical with a marked interindividual variability. Palatal height does not depend on the width of the dentoalveolar arch, and the height of the primary palate is not reduced.

Conclusion

The smaller width and reduced height from the level of the first premolars posteriorly confirm the substantially reduced space available for the tongue in patients with isolated cleft palate. Deviations are on the average symmetrical, and the anterior part of the palate is not shallower.
The Relationship between the Characteristics of Speech and Velopharyngeal Gap Size
Authors: Kummer Ann W. , Briggs Marianne , Lee Linda
Published: October 2018

Objective

The purpose of this study was to examine the relationship between perceptual characteristics of hypernasality, nasal emission and nasal rustle, and size of the velopharyngeal gap.

Design

A retrospective medical chart review.

Setting

Cincinnati Children's Hospital Medical Center.

Subjects

Subjects were patients of the Craniofacial Anomaly Team. All were between ages 3 and 12 years and diagnosed with velopharyngeal dysfunction secondary to cleft palate ± cleft lip. A total of 173 charts were reviewed.

Outcome Measures

Speech characteristics were assessed perceptually by an experienced speech-language pathologist. Following that assessment, velopharyngeal closure was evaluated using videofluoroscopy, nasopharyngoscopy, or both.

Results

Based on the perceptual ratings alone, 21 subjects were diagnosed with nasal rustle only, 27 had hypernasality with nasal rustle, 89 had hypernasality with nasal emission without nasal rustle, and 36 had hypernasality with no audible nasal emission. An ordinal logit regression was conducted and showed that moderate and severe hypernasality contributed significantly to the prediction of a large gap size; nasal rustle contributed significantly to prediction of a small gap size. Perceptual characteristics of speech correctly predicted gap size for 121 of the 173 subjects (70%).

Conclusions

This investigation revealed that some information regarding velopharyngeal gap size may be predicted from the speech assessment alone. Confidence in the prediction is strongest if the patient has nasal rustle, suggesting a small gap, or if the patient has moderate to severe hypernasality, which is more commonly associated with a large opening.
Use of a Perceptual Evaluation Instrument to Assess the Effects of Infant Orthopedics on the Speech of Toddlers with Cleft Lip and Palate
Authors: Konst Emmy M. , Rietveld Toni , Peters Herman F.M. , Weersink-Braks Hanny
Published: October 2018

Objective

To investigate the effects of infant orthopedics (IO) administered in the first year of life on the speech characteristics of 2.5-year-old children with complete unilateral cleft lip and palate (UCLP) using a perceptual evaluation instrument with equal-appearing interval (EAI) scales.

Design

In a prospective randomized clinical trial (Dutchcleft), two groups of children with complete UCLP were followed longitudinally. One group received IO based on a modified Zurich approach (IO group), and the other group did not (non-IO group). The appliance was used until soft palate closure at age 12 months. Hard palate closure is delayed until 9 years of age.

Participants

Three groups of 2.5-year-old toddlers participated in this investigation: 10 IO, 10 non-IO, and 8 noncleft controls matched for age and socioeconomic status.

Method

Five trained listeners assessed the children's speech in a blinded perceptual rating procedure. They judged 13 specific speech characteristics and indicated their total impression of speech on EAI scales.

Results

The reliability and consistency of 11 of the rating scales was good. The intelligibility rating scale was the single speech characteristic that distinguished the IO group from the non-IO group; the IO group was judged to be superior. The cleft groups differed from the noncleft group on 9 of the 11 scales.

Conclusions

Evaluation of speech by means of the present newly developed perceptual rating instrument showed that the IO group obtained significantly higher ratings for intelligibility than the non-IO group. The groups did not differ regarding any of the other speech aspects.
Development of the Orohypopharyngeal Cavity in Normal Infants and Young Children
Authors: Rommel N. , Bellon E. , Hermans R. , Smet M. , De Meyer A-M. , Feenstra L. , Dejaeger E. , Veereman-Wauters G.
Published: October 2018

Objective

To study the growth of the oropharynx and hypopharynx in infants and young children by measuring the lengths of the segments between nasopharyngeal valve and tongue base, tongue base and arytenoids, and arytenoids and upper esophageal sphincter. These measurements will be used as references for developing manofluoroscopy to study deglutition in infants and young children.

Patients and Methods

Twenty-three children (14 boys, 9 girls) between birth and 4 years of age were prospectively studied. All children had near normal growth parameters and were free of medical illnesses or other major medical conditions that are known to influence the pharyngeal cavity. Lateral videofluoroscopy was used to assess the pharyngeal structures during breathing. All images were digitally recorded and analyzed using a computer program designed specifically for this study.

Results and Conclusions

Statistically significant correlations were found between the age or height of the patient and the distance from velopharyngeal valve to tongue base and the distance from tongue base to arytenoids, showing a linear increase of the length of the oro- and hypopharynx with age and patient height. There was no significant difference in the pharyngeal distances between boys and girls. On the basis of these results, a linear regression comparison could be established to define the length of each pharyngeal segment for any age until 4 years and for the 50th percentile of height.
Congenital Common Cavity Deformity of Frontal, Ethmoid, and Sphenoid Sinuses
Authors: Tasar Mustafa , Yetiser Sertac , Saglam Mutlu , Tasar Aysın
Published: October 2018

Objective

To present a 17-year-old adolescent patient with lost right eye visual field and intermittent headache since the age of 14 years. The cranium was prominent at the right frontal region. The patient had no history of head trauma or infection and his past medical story was unremarkable. His mental status was normal. Computed tomography scanning revealed an abnormal occurrence of a common cavity deformity of the frontal, ethmoid, and sphenoid sinuses. No other lesions or deformities were present. Such common cavity deformity of these paranasal sinuses has not previously been reported in the English literature.
Evaluation of virtual controller interface device and software-in-the-loop simulation
Authors: Wang Daobin , Tian Zong , Gholami Ali , Yang Guangchuan
Published: October 2018

In current practice, hardware-in-the-loop simulation and software-in-the-loop simulation are two typical methods for traffic signal control research. The former uses a controller interface device (CID) to connect an actual traffic signal controller to micro-simulation software when conducting a simulation, whereas the latter uses software packages to take the roles of actual signal controllers. Using an actual signal controller can help to generate more reliable simulation results; however, the operational costs of CIDs limit the applicability of hardware-in-the-loop simulations. In this paper, a virtual controller interface device (VCID) is proposed to connect the actual signal controllers to simulation software. The proposed device communicates with the actual signal controller through the US national transportation communications for intelligent transportation systems protocol (NTCIP), which provides great operation flexibility, such as remote control, and reduces the operating costs compared with previous hardware-in-the-loop simulations. The simulation performance of the VCID is compared with software-in-the-loop simulations through a case study in this paper. It is found that the proposed device is able to provide accurate and reliable traffic simulation results: the relative difference with software-in-the-loop simulations is only 1·8%, but it requires significantly less effort and has a lower cost.
Cardiovascular Events after New-Onset Atrial Fibrillation in Adults with CKD: Results from the Chronic Renal Insufficiency Cohort (CRIC) Study
Authors: Bansal Nisha , Xie Dawei , Sha Daohang , Appel Lawrence J. , Deo Rajat , Feldman Harold I. , He Jiang , Jamerson Kenneth , Kusek John W. , Messe Steven , Navaneethan Sankar D. , Rahman Mahboob , Ricardo Ana Catherine , Soliman Elsayed Z. , Townsend Raymond , Go Alan S.
Published: October 2018

Background

Atrial fibrillation (AF), the most common sustained arrhythmia in CKD, is associated with poor clinical outcomes in both patients without CKD and patients with dialysis-treated ESRD. However, less is known about AF-associated outcomes in patients with CKD who do not require dialysis.

Methods

To prospectively examine the association of new-onset AF with subsequent risks of cardiovascular disease events and death among adults with CKD, we studied participants enrolled in the Chronic Renal Insufficiency Cohort Study who did not have AF at baseline. Outcomes included heart failure, myocardial infarction, stroke, and death occurring after diagnosis of AF. We used Cox regression models and marginal structural models to examine the association of incident AF with subsequent risk of cardiovascular disease events and death, adjusting for patient characteristics, laboratory values, and medication use.

Results

Among 3080 participants, 323 (10.5%) developed incident AF during a mean 6.1 years of follow-up. Compared with participants who did not develop AF, those who did had higher adjusted rates of heart failure (hazard ratio [HR], 5.17; 95% confidence interval [95% CI], 3.89 to 6.87), myocardial infarction (HR, 3.64; 95% CI, 2.50 to 5.31), stroke (HR, 2.66; 95% CI, 1.50 to 4.74), and death (HR, 3.30; 95% CI, 2.65 to 4.12). These associations remained robust with additional adjustment for biomarkers of inflammation, cardiac stress, and mineral metabolism; left ventricular mass; ejection fraction; and left atrial diameter.

Conclusions

Incident AF is independently associated with two- to five-fold increased rates of developing subsequent heart failure, myocardial infarction, stroke, or death in adults with CKD. These findings have important implications for cardiovascular risk reduction.
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
Authors: Bu Fengxiao , Zhang Yuzhou , Wang Kai , Borsa Nicolo Ghiringhelli , Jones Michael B. , Taylor Amanda O. , Takanami Erika , Meyer Nicole C. , Frees Kathy , Thomas Christie P. , Nester Carla , Smith Richard J.H.
Published: October 2018

Background

Genetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and often ambiguous.

Methods

We analyzed 93 complement and coagulation genes in 400 patients with aHUS, using as controls 600 healthy individuals from Iowa and 63,345 non-Finnish European individuals from the Genome Aggregation Database. After adjusting for population stratification, we then applied the Fisher exact, modified Poisson exact, and optimal unified sequence kernel association tests to assess gene-based variant burden. We also applied a sliding-window analysis to define the frequency range over which variant burden was significant.

Results

We found that patients with aHUS are enriched for ultrarare coding variants in the CFH, C3, CD46, CFI, DGKE, and VTN genes. The majority of the significance is contributed by variants with a minor allele frequency of <0.1%. Disease-related variants tend to occur in specific complement protein domains of FH, CD46, and C3. We observed no enrichment for multiple rare coding variants in gene-gene combinations.

Conclusions

In known aHUS-associated genes, variants with a minor allele frequency >0.1% should not be considered pathogenic unless valid enrichment and/or functional evidence are available. VTN, which encodes vitronectin, an inhibitor of the terminal complement pathway, is implicated as a novel aHUS-associated gene. Patients with aHUS are not enriched for multiple rare variants in complement genes. In aggregate, these data may help in directing clinical management of aHUS.
Hallássérült személyek idegennyelv-tanulása Magyarországon – A jelnyelv szerepe a magyar idegennyelv-oktatásban
Authors: Téglás Anna
Published: October 2018

I have done descriptive research on sign language generally in education, and specifically in foreign language teaching. Finally, I have had the conclusion that the use of sign language in general, as well as in foreign language education, increases motivation and efficiency of hearing impaired people to learn foreign languages. In Hungary, while the right of bilingual education for hearing impaired students is well described by law (Act CXXV of 2009), in practice this is not working in the schools in Hungary. However, we see good practice of bilingual teaching methods of foreign languages in other countries of Europe.
Tanterv-átalakulások a digitális kompetencia szempontjából az ELTE TÓK tanító szakán
Authors: Temesi-Ferenczi Kinga
Published: October 2018

The Faculty of Primary and Pre-School Education of Eötvös Loránd University is developing a new curriculum for the new training and outcome requirements (as later TOR) of the new students admitted the next academic year. According to this, the main profile of our Department is to examine and develop the IT skills and digital competence in the 6-12 age group in multimedia educational curricula, ICT tools and algorhythmic thinking. That is why it is important for us that our students have those kinds of digital skills that they will be able to use properly and effectively in their work at school for their students. In my presentation, I will explain the new curricula of the new TOR specialisation of elementary student-teachers and show how the application of ICT (both theoretically and practically) appears in the case of student-teachers and in their education.
Training for self-employment and active citizenship to achieve life satisfaction
Authors: Horváth Zsuzsanna
Published: October 2018

Forecasting the future of the world of work is difficult, dependent on multiple factors that are themselves unpredictable. The world of work is prone to transit from predominantly employee-based economies to entrepreneurial economies, involving the change in the work habits of individuals. The practical question arises: Are future generations ready to be entrepreneurial, and how to promote entrepreneurial education in the higher educational settings? The article below, beyond the purely economic rationale behind entrepreneurial education, tries to enumerate and examine the societal and psycho-social outcomes of self-employment such as life satisfaction and subjective well-being.
Características macroscópicas e microscópicas de Hamamelis virginiana, comercializada como chá em farmácias e drogarias de Mogi das Cruzes
Authors: Yasuda Flávio Sussumu , Gonçalves Carolina Passarelli , Marcucci Maria Cristina
Published: October 2018

As bebidas de infusão são utilizadas desde a antiguidade como medicamentos. De fatos muitos dos medicamentos que hoje fazem parte da alopatia tradicional, são provenientes de extratos vegetais. Hoje, é possível comprar em Farmácias, drogarias e, até supermercados, folhas e ervas de forma industrializada ou semi industrializada.  O problema é que o produto industrializado nem sempre se apresenta “puro”, além de possibilitar o uso indiscriminado. Alguns fitoterápicos, se usados de forma inadequada podem perder as suas propriedades funcionais ou pior, podem provocar males maiores do que benefícios à saúde do usuário. Neste trabalho faremos uma analise de chá de Hamamelis virginiana L. encontrado em farmácias e drogarias e, verificaremos as condições do produto segundo as normas da ANVISA e farmacopéia brasileira e, também quanto à caracterização farmacobotânica.
Avanços no desenvolvimento de fitoterápicos no país
Authors: Ramos Mônica Freiman De Souza , Vaucher Arianne Cunha dos Santos
Published: October 2018

Editorial
Turnaround Time Prediction for a Medical Laboratory Using Artificial Neural Networks
Authors: Eminağaoğlu Mete , Vahaplar Alper
Published: October 2018

Turnaround
time (TAT) or duration between different stages in medical and healthcare
services is accepted to be one of the most significant performance measures
that can have a great impact on service quality, change management, costs, and
strategic decisions. Accurate and reliable prediction or estimation of the
turnaround times or elicitation of the underlying causes that affect TAT is
known to be a difficult problem. In this study, a heuristic prediction approach
is used by designing and implementing a special artificial neural network (ANN)
model in order to predict TAT of a specific process in a private hospital. The
prediction performance of our ANN model is comparatively analyzed with some
alternative linear and nonlinear numerical prediction algorithms. The results
show that ANN surpasses all of the other numerical prediction algorithms and
ANN might be used by the decision makers as a reliable model to estimate TAT
within acceptable error rates.
Blok Zinciri Teknolojisine Yapılan Saldırılar Üzerine bir İnceleme
Authors: TAŞ Oğuzhan , KİANİ Farzad
Published: October 2018

Son zamanlarda;  blok zinciri tabanlı kripto para ödeme
sistemleri(bitcoin, ethereum) oldukça popüler olmuştur. Merkezi olmayan eşler
arası(P2P) ağ yapısına sahip olan bu sistemde tüm işlemler, sadece ekleme
yapılabilen bir ana defterde(ledger) tutulmaktadır. Madenciler ise bu ağ
yapısındaki düğümleri oluşturmaktadır, her madenci defterin yerel kopyasına
sahiptir. Blok zincirinde, PoW uzlaşma protokolü işlemi onaylamakta ve zincire yeni
blok eklenmesine izin vermektedir. Ödülü almak için, madenciler eşler arası
ağda işlemi tamamlamak için birbirleriyle yarışırlar.  Ödül sistemi, blok zinciri kullanan bitcoin’i
popülerleştirmiş,  fakat aynı zamanda
saldırganların blok zincirine ilgisini artırmıştır. Saldırganlar tarafından
blok zincirinin madenci havuzuna ve ağ yapısının güvenliğine farklı saldırılar
yapılmıştır. Bu makalede, blok zinciri alt yapısına karşı mevcut saldırılar
sunulmuştur. İlk bölümlerde, P2P mimarisine, uzlaşma protokolüne ve işlemlere
yönelik saldırı tipleri araştırılmıştır. Bu bölümde, %51 saldırısı, Çift
harcama, Finney, Vector76, Kaba Kuvvet, Sybil, Eclipse, Denge gibi saldırılar açıklanmış
ve çözümler önerilmiştir. Daha sonra, Bencil madencilik ve Blok Atma, Blok
Tutma(BWH),  Blok Tutma Sonrası
Çatallanma(FAW), Havuz sıçrama saldırısı, Cezalandırıcı Çatallanma ile Kara
Listeye Alma, Köpük saldırısı ve Rüşvet Saldırısı gibi madencilik havuzuna
karşı saldırılar incelenmiş ve savunma stratejileri sunulmuştur. Son bölümde de
blok zinciri altyapısında kullanılan kriptografi’nin geleceği üzerinde tartışılmış
ve Post Kuantum Kriptografi’nin  etkilerinden bahsedilmiştir
Stigma and perceived aggression towards schizophrenia in female students of medicine and psychology
Authors: Fresán Ana ,   Subdirección de Investigaciones Clínicas, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Ciudad de México, México., Robles-García Rebeca , Martínez-López Nicolás , Tovilla-Zárate Carlos Alfonso , Madrigal Eduardo ,   Dirección de Investigaciones Epidemiológicas y Sociales, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, Ciudad de México, México.,   División Académica Multidisciplinaria, Universidad Juárez Autónoma de Tabasco, Comalcalco, Tabasco, México.,   Dirección General, Servicios de Atención Psiquiátrica, Ciudad de México, México.
Published: October 2018

Introduction. The main attitudes towards people with schizophrenia are fear and rejection, which derive from the idea that patients have no control over their behavior and that they are aggressive, violent, and/or dangerous. Several studies have shown that mental health professionals show negative attitudes towards patients with schizophrenia from the start of their professional training. Objective. To compare the stigmatizing attitudes and perception of aggression of female undergraduate students of medicine and psychology towards people with schizophrenia. Method. Fifty-seven (49.6%) undergraduate medical students and 58 (50.4%) psychology students in the early semesters of their professional training were included. Both groups answered the Opinion Scale on Mental Illness and the Public Concept of Aggressiveness Questionnaire (PCA). Results. Over 60% of the students from both degree courses considered that the individual with schizophrenia described in the vignette could be aggressive, with a higher percentage corresponding to female students enrolled in the medical degree program. In this group, more negative attitudes towards the disease were observed in terms of separatism, restriction, and stigmatization. Discussion and conclusion. It is essential to promote clear, objective information with a biopsychosocial approach to the disease in the syllabus in order to reduce or eliminate stigmatizing beliefs and attitudes regarding schizophrenia acquired prior to professional training.
Association of the SLC6A4 gene 5HTTLPR polymorphism and ADHD with epilepsy, gestational diabetes, and parental substance abuse in Mexican mestizo children
Authors: Durán-González Jorge ,   Facultad de Medicina e Ingeniería en Sistemas Computacionales, Universidad Autónoma de Tamaulipas, H. Matamoros, Tamaulipas, México., Leal-Ugarte Evelia , Cruz-Alcalá Leonardo Eleazar , Gutiérrez-Angulo Melva , Gallegos-Arreola Martha Patricia , Meza-Espinoza Juan Pablo , Reyes-Zurita Itzayana , Padilla-Macías Patricia Lizbeth , Cruz-Martín del Campo Edgar , Peralta-Leal Valeria ,   Departamento Clínico, Centro Universitario de los Altos, Universidad de Guadalajara, Guadalajara, Jalisco, México.,   Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.,   Laboratorio de Genética Molecular, División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Published: October 2018

Introduction. Attention deficit hyperactivity disorder (ADHD) is one of the most common neuropsychiatric conditions in childhood and a multifactorial condition attributable to genetic and/or environmental influence. Allelic variants in the serotonin transporter gene (SLC6A4) have been associated to lower transcriptional efficiency, changes in serotonin concentration in several brain regions, and ADHD development. Objective. To identify the association between the SLC6A4 alleles and ADHD diagnosis and risk factor phenotypes in children from a Mexican mestizo population. Method. In this study, 134 unrelated children were included and evaluated for ADHD, genotypification for the 5HTTLPR polymorphism, and identification of multiple phenotypes from their clinical records and family background for association analysis. Results. The following distribution of genotypes was observed: 23% SS, 49% SL, and 28% LL. From the phenotypes evaluated in the present study, gestational diabetes mellitus (p = .045), history of epilepsy (p = .047), and parental substance abuse (p = .033) showed an association with ADHD development in regression analysis along with the S variant. Discussion and conclusion. Results suggest that interaction of the S allele and some of the phenotypes analyzed may play a relevant role in the development of ADHD in the studied population.
Construct validity of a new scale for assessing anger proneness (APS-G)
Authors: García-Cadena Cirilo H ,   Facultad de Psicología, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México., Daniel-González Leopoldo , Valle de la O Adrián , Caycho-Rodriguez Tomás , Téllez López Arnoldo ,   Escuela de Medicina y Ciencias de la Salud, Instituto Tecnológico y de Estudios Superiores de Monterrey, Monterrey, Nuevo León, México.,   Facultad de Psicología, Universidad Privada del Norte, Breña, Perú.
Published: October 2018

Introduction. The negative effects of anger on health highlight the value of developing short, reliable, and valid instruments that allow its assessment whether for the purpose of research, clinical diagnosis, and/or evaluation of interventions aimed at reducing it effectively. Objective. The primary aim of this research was to determine the construct, convergent, and discriminant validity, as well as the factorial invariance, of a new scale to measure anger proneness. Method. A confirmatory factorial analysis was used. Results. An online nonprobability sample composed of 457 participants (35.2% men and 64.8% women), with a mean age of 36.87 years (SD = 12.513) was recruited. The unidimensional model of the García’s Brief Scale for Assessing Anger Proneness (APS-G scale) shows a good data fit (df = 2; χ2 = 5.515; χ2/df = 2.575; CFI = .993; GFI = .996; RMSEA = .051; SRMR = .0193). There are factorial, configural, metric, unrestricted, strong, and strict factorial invariances between men and women. Likewise, a positive correlation coefficient exists between the APS-G scale and the State-Trait Anger Expression Inventory-2 (STAXI-2) (r = .561; p < .01); on the other hand, there is a negative correlation coefficient between the studied scale and the Satisfaction with Life Scale (SWLS) (r = -.179; p < .01). Discussion and conclusion. A new reliable and valid instrument to measure anger proneness has been created, and its use is proposed for research and screening purposes with Spanish-speaking population.
Atención primaria en salud mental en el conflicto armado en Colombia
Authors: Dávila-Pérez Linda Lorena , Gélvez-Rodríguez Leonardo
Published: October 2018

El presente artículo de reflexión no derivado de investigación tiene el propósito rastrear la evolución de la estrategia de atención primaria en salud mental desde su aparición en Colombia en 1981 y su renacimiento con la Ley 1616 del 2011, así como identificar los elementos y retos que convergen en ella en este momento histórico. El país se encuentra en un momento crucial de transformación social, cultural, política y asistencial debido a los acuerdos de paz; por esta razón, se resalta que la atención primaria en salud mental puede tener un papel importante ante la necesidad de mejorar y fortalecer la asistencia sanitaria de los involucrados en el conflicto, así como en la reintegración a la vida social de los actores armados y los miembros militares de las fuerzas estatales. Se concluye que a pesar de los buenos resultados que ha tenido la aplicación de las diferentes leyes en torno a la salud mental, no se vislumbra en las negociaciones en el conflicto armado un espacio activo y consolidado para la atención primaria en salud mental para los involucrados en el conflicto armado, sean o no víctimas. También es necesario reestructurar los programas dirigidos a la atención en salud mental para hacerlos más prácticos, accesibles y efectivos para las comunidades.
Palabras clave: atención primaria; salud mental; servicios de salud; conflicto armado.
Modelos anatómicos personalizados impresos en 3D como herramientas para el aprendizaje y preparación de intervenciones
Authors: Ávila F. Juan Sebastián , De Rossi E. Marco , Martínez T. Manuel
Published: October 2018

Objetivo: Presentar un método de desarrollo de modelos anatómicos personalizados impresos en 3D con el objetivo de ejemplificar el uso de herramientas de visualización para realizar planificación de operaciones quirúrgicas. Se busca determinar si es una tecnología útil para visualizar y simular antes de intervenir un paciente. Se realizaron dos modelos como ejemplos, el primero una arteria cerebral y el segundo una estructura ósea del húmero humano. Método: El método de trabajo consistió en a) Buscar imágenes médicas realizadas con CT o MRI de pacientes anónimos, b) Segmentar con el software Slicer3D la sección específica del órgano, c) Convertir el modelo en mallas poligonales en tres dimensiones, d) Optimizar e imprimir en 3D, e) Validar con especialistas la morfología del órgano y realizar simulaciones de evaluación para determinar si son pertinentes para planificar procedimientos médicos, así como la pertinencia de ejecución de técnicas hospitalarias, desarrollo de prótesis y evaluación de herramientas antes de realizar alguna intervención. Resultados: Se fabricaron en dos laboratorios de fabricación diferentes, uno en la Universidad El Bosque y otro en el FabLab Valencia diversos modelos anatómicos con diferentes variables en su proceso y características dada la dificultad de morfologías y delicadeza de las estructuras presentes en el cuerpo humano, se concluye que el método presentado sí proporciona resultados útiles para la planeación de cirugías y enseñanza de anatomía de estructuras anatómicas complejas en diferentes escenarios que podrían mejorar el éxito en las intervenciones y el entrenamiento de profesionales en áreas de la salud.
A AVALIAÇÃO DE POLÍTICAS SOCIAIS ORIENTADA PELO MATERIALISMO HISTÓRICO DE INSPIRAÇÃO MARXIANA
Authors: Amaral Ferreira Alves Adriana
Published: October 2018

O presente estudo buscou problematizar a ausência de uma cultura política de avaliação das políticas sociais no Brasill que efetivamente seja um processo político-democrático, implicado com o conhecimento da realidade concreta para além de sua falaciosa aparência. Portanto, foram lançadas algumas contribuições reflexivas sobre a condução teórico-metodológica desses processos de avaliação, tomando por base o materialismo histórico, de onde foram extraídas categorias analíticas que pudessem orientar as avaliações no exame da realidade e as transformar em meios capazes de subsidiar a luta coletiva pelo redirecionamento ético-político das políticas sociais brasileiras.
Cópia e pastiche: plágio na comunicação científica
Authors: Diniz Debora , Munhoz Ana Terra Mejia
Published: October 2018

A comunicação científica em humanidades enfrenta uma mudança no formato das publicações e no volume da produção editorial no Brasil. Houve um crescimento significativo no número de autores e um maior fluxo de produção em periódicos científicos em formato digital. Este artigo explora um aspecto central da ética na comunicação científica – o plágio. O plágio define-se como uma apropriação indevida de criação literária, que viola o direito de reconhecimento do autor e a expectativa de ineditismo do leitor. Como regra, o plágio é uma infração ética que desrespeita a norma de atribuição de autoria na comunicação científica. O artigo analisa duas estratégias comuns de plágio: a cópia e o pastiche. Em casos de criação literária protegida por direitos autorais, o plágio pode também ser crime.