Thin Eyebrows Research Articles

A second hotspot for pathogenic exon-skipping variants in CDC45.

Biallelic pathogenic variants in CDC45 are associated with Meier-Gorlin syndrome with craniosynostosis (MGORS type 7), which also includes short stature and absent/hypoplastic patellae. Identified variants act through a hypomorphic loss of function mechanism, to reduce CDC45 activity and impact DNA replication initiation. In addition to missense and premature termination variants, several pathogenic synonymous variants have been identified, most of which cause increased exon skipping of exon 4, which encodes an essential part of the RecJ-orthologue's DHH domain. Here we have identified a second cohort of families segregating CDC45 variants, where patients have craniosynostosis and a reduction in height, alongside common facial dysmorphisms, including thin eyebrows, consistent with MGORS7. Skipping of exon 15 is a consequence of two different variants, including a shared synonymous variant that is enriched in individuals of East Asian ancestry, while other variants in trans are predicted to alter key intramolecular interactions in α/β domain II, or cause retention of an intron within the 3'UTR. Our cohort and functional data confirm exon skipping is a relatively common pathogenic mechanism in CDC45, and highlights the need for alternative splicing events, such as exon skipping, to be especially considered for variants initially predicted to be less likely to cause the phenotype, particularly synonymous variants.

THE CONCEPT OF “HERO’S BRIDE” IN THE EARLY TEXTS OF THE YAKUT OLONKHO: A PHENOMENOLOGICAL ASPECT

The article considers the concept of “hero’s bride” in the context of the phenomenological approach based on six early texts of the Yakut Olonkho. In these texts we identified 28 suggestive epic formulas that are the main means of representing the concept being studied. As a result of the study, it was found that the nominative density of the concept “hero’s bride” includes the concepts of “female beauty,” “portrait,” “body,” “youngest daughter,” “needlework,” “clothes,” “braid,” “skylark.” The analysis of these concepts allowed to reveal the aesthetic preferences of female beauty in the minds of native speakers. It turned out that the representations of “female beauty” included such signs as shapeliness, slim body, beautiful face, long braid, white skin, rosy cheeks, thin eyebrows, shiny eyelashes, plump lips, snow-white teeth and restrained character. Particularly important were light, thin skin, through which both bones and veins are visible. The combination of these characteristics formed the idea of the “hero’s bride” — a perfectly beautiful woman who was the standard of beauty in the linguistic image of the world of the Yakuts in the late 19th — early 20th centuries. In addition, the predominance of the “braid” concept with referents “braid in sweep sazhen“ + “Kuo” indicates that this model of the concept explicated all the above aesthetic characteristics of the “hero’s bride” concept in the minds of the listeners. The foregoing indicates the presence of phenomenological associative connections, that is, the concepts once verbalized by the storytellers accumulated in the social memory of the epic audience. In other words, the phenomenon of speech activity, in which there the cumulative and interchangeable nature of concepts included in the conceptual area of the “hero’s bride” is revealed.”

Face-to-face: Three facial features that may turn the scale in close electoral races

When voters in political elections intend to vote for a candidate who represents their political interests, they cannot avoid being influenced by the visual appearance of the candidates. In fact, many political campaigns are dominated by billboard advertising that mainly focuses on politicians' face portraits. While extant research already showed that a candidate's visual appearance has an impact on electoral outcomes, the present research goes a step further and investigates which specific facial features increase or decrease a politician's likelihood of winning an election. Evaluating 17 facial features, we identified mouth width, the ratio of eye height/width, and eyebrow height as relevant predictors of electoral success. In particular, we find across a correlative study, an experimental study, and an analysis of German Federal Elections that a wide mouth and large eyes that extend vertically have a robust and coherent influence on the likelihood of getting votes. Thin eyebrows increase the likelihood of getting votes in our hypothetical voting scenarios but not in the analysis of real election data. Furthermore, we show that the effects of the mouth and the eyes are statistically mediated by perceived trustworthiness and perceived dominance. In terms of real-life relevance, our analysis suggests that these three facial features can make the difference in close races.

PERBANDINGAN PENGGUNAAN KOSMETIKA EYEBROW GEL DAN EYEBROW CREAM TERHADAP HASIL PEMBENTUKAN ALIS TIPIS PADA RIAS WAJAH PENGANTIN BARAT

This study aims to compare the use of eyebrow gel and eyebrow cream cosmetics to the results of the formation of thin eyebrows in Western bridal make-up. This type of research is a quasi experiment. The research sample was 6 people. The data collection technique was purposive sampling. Descriptive data analysis techniques by displaying the mean, standard deviation, minimum, and maximum values. Bivariate analysis using independent-sample t-test with a confidence degree of 90%. The results of using eyebrow gel cosmetics for the results of the formation of thin eyebrows of West Pegantin found that the highest value was found in the favorite aspect, namely 3.19 having dislike criteria. In the use of eyebrow cream cosmetics, it was found that the highest value was in the neatness aspect, namely 3.52 having very neat criteria. There is a difference in the effect of using eyebrow gel and eyebrow cream cosmetics on the results of thin eyebrow formation in Western bridal make-up on the flatness aspect (p = 0.000), on the neatness aspect (p = 0.000), and on the favorite aspect (p = 0.000). The conclusion of this study is that there is an effect of using eyebrow gel and eyebrow cream cosmetics on the results of thin eyebrow formation in Western bridal make-up.

Sudden cardiac arrest associated with myxedema coma due to undiagnosed hypothyroidism: a case report

BackgroundMyxedema coma, which occurs due to hypothyroidism, is a rare and life-threatening condition. Some patients have hemodynamic dysfunction, which consequently leads to cardiac arrest. The rarity of this condition makes it difficult to determine the cause of cardiac arrest. It is important to diagnose myxedema coma based on clinical findings, including physical examination and laboratory parameters. We present a case of undiagnosed and untreated hypothyroidism that initially caused myxedema coma and then led to cardiac arrest.Case presentationA 56-year-old woman who had no medical history was transferred to our hospital for the management of return of spontaneous circulation due to sudden cardiac arrest. Findings of laboratory tests revealed that she had hypothyroidism. On physical examination, she was found to have a puffy face, thin eyebrows, and severe systemic non-pitting edema. Therefore, the patient was clinically diagnosed with myxedema coma, which was the cause of cardiac arrest. She was treated with thyroid hormone and hydrocortisone, resulting in improvement in her general condition, except for the neurological dysfunction.ConclusionsThis case suggests that myxedema coma is caused by undiagnosed and untreated hypothyroidism, leading to sudden cardiac arrest. Our findings are useful in the differential diagnosis of hypothyroidism based on characteristic physical examination findings. Clinicians should be aware of the differential diagnosis of myxedema coma based on findings from physical examination and laboratory testing of thyroid function, and the treatment should be started immediately.

Somatic and germline analysis of a familial Rothmund\u2013Thomson syndrome in two siblings with osteosarcoma

Rothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.

MON-474 Coexistence of Thyroid Dysgenesis and Premature Ovarian Failure: A Case Report

Background. Congenital hypothyroidism (CH) secondary to thyroid dysgenesis is rare. It may present with ascites and short stature. Primary ovarian failure (POF) is most commonly associated with autoimmune thyroid diseases1. However, there is no report of the association of POF with congenital hypothyroidism. Clinical case. A 30 year old female presented with increasing abdominal girth, short stature and arrest of menstruation at 27 years old. Newborn screening was not done. Developmental milestones were at par. She had a low timber voice and was slow to respond. Her skin was rough and dry. Her hair was sparse, and she had thin eyebrows. Her tongue was not enlarged. Her abdomen was globular with a positive fluid wave test and shifting dullness. Initial tests indicated a hypothyroid state: elevated TSH (50.40 IU/mL, N=0.35-4.94 IU/mL), low FT4 (0 pmol/L, N=12-22 pmol/L). Ultrasound of the thyroid suggests thyroid dysgenesis (small right thyroid gland measuring 1.4 x 0.2 x 0.4 cm and an absent left thyroid gland). Karyotyping was 46, XX and insulin growth factor 1 was normal. Unexpectedly, further tests were consistent with a concomitant primary ovarian failure: low estradiol (5 pg/mL, N=12.4-233 pg/mL), high FSH (112.7 mIU/mL, N=3.5-12.5 mIU/mL) and LH (61.9 mIU/mL, N = 2.4-12.6 mIU/mL). Chest radiography showed left pleural effusion. Abdominal CT scan showed marked ascites with normal reproductive organs. Anti-TPO antibodies were normal (4.87 IU/mL, N=0-25 IU/mL). The patient was treated with Levothyroxine 50 mcg daily then gradually increased to 100 mcg daily. She was given Spironolactone 50 mg daily and paracentesis was also done to address ascites. The patient had improvement of symptoms after a month of treatment. However, the etiology of POF remains to be further elucidated. Conclusion. This case report emphasizes the importance of the early detection of congenital hypothyroidism through newborn screening. Severe hypothyroidism is rarely seen due to the wide availability of the TSH assay and its diagnosis should instigate further work-up for its etiology. Concomitant premature ovarian failure in the absence of an autoimmune thyroid disorder should prompt further investigation for another etiology since premature ovarian failure is not commonly associated with congenital hypothyroidism. Reference: (1) Ayesha, Jha V, Goswami D. Premature Ovarian Failure: An Association with Autoimmune Diseases. J Clin Diagn Res. 2016;10(10):QC10-QC12.

Prenatal and Postnatal Clinical Spectrum of a Mosaic Small Supernumerary Marker Chromosome 22

An amniocentesis was performed because of the advanced maternal age at 18 weeks of gestation, and cytogenetic analyses revelaed a de novo mosaic small supernumerary marker chromosome (sSMC), as parental karotypes were normal. Fluorescence in situ hybridization (FISH) analyses with chromosome specific whole chromosome painting, locus, and alphoid satellite DNA probes were ended with the diagnosis of mosaic sSMC of chromosome 22. The result was explained to the family and genetic counselling was given together with the absence of fetal ultrasound findings. The baby was delivered at term by caesarean section. The female neonate with mosaic sSMC did not show any apparent dysmorphic features at birth. No growth and psychomotor retardation were observed at her natal period follow-up. At one year age, she had some mild dysmorphic findings such as high frontal hairline, frontal bossing, thin eyebrows, hypertelorism, flattened tip of nose and prominent philtrum. The reason of the absence of major abnormalities could be related with the presence of heterochromatin region of chromosome 22 rather than the gene rich parts. Finally, this report emphasizes the importance of acting in an analytical algorithm based on chromosomal origin, parental lineage, size and mosaic or non-mosaic status of sSMCs in the prenatal diagnosis, and using FISH technique and postnatal confirmation of the sSMC.

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype

Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, with cardiac defects, intellectual disability, facial dysmorphisms and gastroesophageal reflux. Whole exome sequencing revealed a novel de novo nonsense mutation in the MEIS2 gene. This patient represents another reported case with a de novo MEIS2 point mutation and helps to characterize a distinct facial phenotype consisting in low anterior hairline, thin eyebrows, anteverted nares, hypoplastic alae nasi, and M-shape upper lip. Furthermore, these data confirm the role of this gene in cardiac, nervous system development and gastrointestinal function.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism

Neurodevelopment is a transcriptionally orchestrated process. Cyclin K, a regulator of transcription encoded by CCNK, is thought to play a critical role in the RNA polymerase II-mediated activities. However, dysfunction of CCNK has not been linked to genetic disorders. In this study, we identified three unrelated individuals harboring de novo heterozygous copy number loss of CCNK in an overlapping 14q32.3 region and one individual harboring a de novo nonsynonymous variant c.331A>G (p.Lys111Glu) in CCNK. These four individuals, though from different ethnic backgrounds, shared a common phenotype of developmental delay and intellectual disability (DD/ID), language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw. Functional assay in zebrafish larvae showed that Ccnk knockdown resulted in defective brain development, small eyes, and curly spinal cord. These defects were partially rescued by wild-type mRNA coding CCNK but not the mRNA with the identified likely pathogenic variant c.331A>G, supporting a causal role of CCNK variants in neurodevelopmental disorders. Taken together, we reported a syndromic neurodevelopmental disorder with DD/ID and facial characteristics caused by CCNK variations, possibly through a mechanism of haploinsufficiency.

Residual Encoder Decoder Network and Adaptive Prior for Face Parsing

Face Parsing assigns every pixel in a facial image with a semantic label, which could be applied in various applications including face recognition, facial beautification, affective computing and animation. While lots of progress have been made in this field, current state-of-the-art methods still fail to extract real effective feature and restore accurate score map, especially for those facial parts which have large variations of deformation and fairly similar appearance, e.g. mouth, eyes and thin eyebrows. In this paper, we propose a novel pixel-wise face parsing method called Residual Encoder Decoder Network (RED-Net), which combines a feature-rich encoder-decoder framework with adaptive prior mechanism. Our encoder-decoder framework extracts feature with ResNet and decodes the feature by elaborately fusing the residual architectures in to deconvolution. This framework learns more effective feature comparing to that learnt by decoding with interpolation or classic deconvolution operations. To overcome the appearance ambiguity between facial parts, an adaptive prior mechanism is proposed in term of the decoder prediction confidence, allowing refining the final result. The experimental results on two public datasets demonstrate that our method outperforms the state-of-the-arts significantly, achieving improvements of F-measure from 0.854 to 0.905 on Helen dataset, and pixel accuracy from 95.12% to 97.59% on the LFW dataset. In particular, convincing qualitative examples show that our method parses eye, eyebrow, and lip regins more accurately.

Recognizable facial features in patients with alternating hemiplegia of childhood.

Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements. The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. While the neurological profile of this condition is well defined, the question whether a recognizable pattern of physical anomalies does exist in this condition is still open. We performed a morphological evaluation of 30 patients at different ages. All patients were evaluated independently by each author and evaluation sheets were compared, discussed, and agreed afterwards. This study started before the identification of ATP1A3 as the causative gene, and the patients were selected upon their neurological picture. Four of these 30 patients tested negative for ATP1A3 mutations and were excluded from the present work. On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. Such phenotype is sufficiently typical to generate a recognizable gestalt. We also evaluated patients photographs taken from the parents in early childhood (6-20 months) to delineate a clinical profile possibly recognizable before the neurological signs suggest the diagnosis. Our data suggest that the typical early gestalt is sufficient to advise the molecular analysis of ATP1A3, even in absence of the pathognomonic neurological signs. Finally, since a number of patients is now adult, some information can be drawn on the phenotypic evolution of the facial appearance of patients with alternating hemiplegia of childhood. © 2016 Wiley Periodicals, Inc.

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].

Leaving the uncanny valley behind

Say hello to Ira. His head is visi ble on a screen, as though he?s in a videoconference. He seems to be in his early 30s, with a shaved head, a pronounced nose, and thin eyebrows. Ira seems a little goofy and maybe just a wee bit strange. But unless you knew his full name-it?s Digital Ira-you probably wouldn?t guess that he?s nothing but bits.

Clinical and intraoral findings of a patient with tricho-rhino-phalangeal syndrome type I

Tricho-rhino-phalangeal syndrome (TRPS) is a rare and an autosomal dominant disorder having the following characteristics: slowly growing sparse hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum and thin upper lip with vermilion border, protruding ears, cone-shaped epiphyses and swelling. Our report intends to introduce TRPS to the dental literature and to present oral, clinical and radiological data of a patient with TRPS. A rare association of supernumerary teeth was also diagnosed and one of them was extracted as it impeded on the eruption path of left premolar tooth.

Symmetry, averageness, and feature size in the facial attractiveness of women

Female facial attractiveness was investigated by comparing the ratings made by male judges with the metric characteristics of female faces. Three kinds of facial characteristics were considered: facial symmetry, averageness, and size of individual features. The results suggested that female face attractiveness is greater when the face is symmetrical, is close to the average, and has certain features (e.g., large eyes, prominent cheekbones, thick lips, thin eyebrows, and a small nose and chin). Nevertheless, the detrimental effect of asymmetry appears to result solely from the fact that an asymmetrical face is a face that deviates from the norm. In addition, a factor analysis indicated that averageness best accounts for female attractiveness, but certain specific features can also be enhancing.

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.

The tricho-rhino-phalangeal syndromes (TRPS type I, II, and III) are autosomal dominant disorders sharing the following characteristics: slowly growing and sparse scalp hair, medially thick and laterally thin eyebrows, bulbous tip of the nose, long flat philtrum, thin upper lip with vermilion border, and protruding ears. In addition, individuals with TRPS generally share skeletal and bone anomalies, including shortening of the phalanges and metacarpals (mild to severe brachydactyly), cone-shaped epiphyses, hip dysplasia, and short stature. The etiology of the different types of TRPS can result from either single base pair mutations, or the complete deletion of the TRPS1 gene, which encodes a zinc-finger transcription factor located on chromosomal band 8q24.1. We have identified nine heterozygous mutations, five novel and four recurrent, in unrelated families diagnosed with TRPS. The five novel mutations identified show 1- or 2-bp deletions and a single base substitution, whereas all of the recurrent mutations are single base substitutions. Seven of the nine mutations result in a premature stop codon, leading to a truncated, nonfunctional TRPS1 protein. The final two mutations are missense mutations in the GATA DNA binding zinc finger, which is believed to be important for the protein's normal function.

Impressions of babyfaced individuals across the life span.

Four questions were addressed concerning perceptions of babyfaced individuals from infancy to older adulthood: (a) Do perceivers make reliable babyface judgments at each age; (b) does a babyface have the same effects on trait impressions at each age; (c) are the effects of a babyface independent of the effects of attractiveness; and (d) what facial maturity features are associated with babyface ratings, and do these features predict trait impressions? Ratings of portrait photographs revealed that perceivers reliably detect variations in babyfaceness across the life span. Facial measurements revealed that large eyes, a round face, thin eyebrows, and a small nose bridge characterized a babyface. Trait impressions showed a babyface overgeneralization effect at each age: Babyfaced individuals were perceived to have more childlike traits than their maturefaced peers, and this effect was independent of attractiveness. Considerable evidence indicates that appearance has a significant impact on social perceptions and social interactions, which may have important implications for personality development. Not only is appearance one of the initial qualities that children and adults mention in their descriptions of people (Fiske & Cox, 1979; Livesley & Bromley, 1973), but it also influences the traits they ascribe to others (see Alley, 1988; Bull &

A reading strategy for Henry Handel Richardson's fiction

Critical reception to the writings of Henry Handel Richardson has been curiously divided. A transcript of it might even read like a courtroom drama, with the prosecution and defence lining up witnesses, from the texts or the Academy, to prove that she was or was not: imaginative, self-centred, a realist, a naturalist, a writer in the Australian tradition, literal-minded, a genius, second rate. Thus one approaches her work gingerly, feeling the need to take sides in a long-running debate that has, at times, served to obscure rather than enlighten. On the frontispiece of the 1948 issue of Southerly is a striking photo of a middle-aged woman, dark-haired, long-nosed, thin-lipped, with heavy eyelids and fashionably thin eyebrows, a manly face, one might say if one were to ascribe to the feminine those traditional attributes of the feminine, dainty features, small nose, full lips: Johanna and Ephie, Laura and Pin, Polly and— who but the Mary she becomes, the ugly duckling turned swan. One doesn't have to look far to find the source of these contrasting figures. In Myself When Young Richardson goes on at length about her sister suddenly gaining the limelight, becoming the centre of attention on the ship to Europe: 'E. [Ettie, short for Ethel] is very well, but Lil is a beauty' their Irish relatives tell them when they land (82). It is interesting to note the images Richardson transported from life to art, and how many came straight out of her troubled childhood. This is certainly of interest. She had a fascinating childhoodemigrant parents who took part in the colonizing of Australia, a brilliant father who went mad, a proper Victorian mother who broke with her class to become a postmistress, and the girls themselves, Ethel and Lillian, musical prodigies who went to Leipzig to study, returning to Australia only once, and then briefly. It is ripe material for literature and Richardson used it again and again in her fiction as source material. But knowing the biographical source of Richardson's preoccupations tells us about her life, and helps us guess her intentions. It places the focus on biography and leads us away from her texts. The same can be said for another major approach to Richardson's work, the