Frequency of short stature in - thalassemia major patients

International Nuclear Information System (INIS)

Aslam, M.S.; Roshan, E.; Shahid, M.

2013-01-01

Objective: To determine the frequency of short stature in children with - thalassemia major receiving multiple transfusions at Military Hospital Rawalpindi. Study Design: Descriptive cross sectional study. Place and Duration of Study: Study was conducted at Military Hospital from 1st January 2010 to 30th June 2010. Subjects and Methods: Total 100 multi-transfused cases of - thalassemia major were included in the study. The height of every child was measured in centimeters using the same free-standing standard stadiometer, and the same technique by a single pediatrician. Results: Out of 100 patients of - thalassemia major 57.0% (n=57) were male while 43% (n=43) were female. Mean age was 9.94 years (SD +- 2.93) with range of 6 to 14 years. Mean height was 115.77 cm (SD +- 13.79) with range of 72.00 to 148.00 cm. 57.0% (n=57) were found to be short statured while 43.0% (n=43) were with normal height. Mean age of short statured patients was 11.61 +- 2.34 years and mean age of patients with normal height was 7.73 +- 2.05 years. Conclusion: The frequency of short stature in our patients with - thalassemia major receiving multiple transfusions is high. There is need to monitor the height of thalassemic children regularly and to improve the quality of care being provided to them so as to improve their quality of life. (author)

Improved short-stature rice created by radiation-induced mutation

International Nuclear Information System (INIS)

1977-01-01

A new mutant variety of rice, named Calrose 76, has recently been released to farmers in California. The mutant was the result of irradiating seeds of the rice variety Calrose with gamma rays from a cobalt-60 source. The variety is the result of co-operative research between Dr. J.N. Rutger, U.S. Department of Agriculture research geneticist at Davis, California, Prof. M.L. Peterson, University of California, and Dr. Chao-Hwa Hu, an IAEA fellow. The mutant that was ultimately released as a new variety was selected in the second generation following irradiation of the Calrose seeds. Selections were also made in a non-irradiated control population, but none proved to be desirable. After its selection in 1971, the mutant was subsequently tested for several years for agronomic performance, grain yield and quality characteristics. It was found to have the same yielding capacity as the widely grown check variety, CS-M3. It also did not differ in seedling vigour or in heading date, but its mature stem is about 35 cm shorter and less susceptible to lodging. Therefore, it yields more grain under conditions of high soil fertility. The short stature is inherited by a single recessive gene, allelic to the gene for short stature widely used in rice cultivars of the International Rice Research Institute in the Philippines (IRRI). The radiation-induced mutant has the advantage that the gene for short stature now exists in a genotype which is adapted to Californian conditions and which possesses the required cold tolerance and grain qualities. Attempts to transfer short stature from the tropical variety IR8 (produced by IRRI) have been complicated by sterility, cold susceptibility, and unacceptable grain quality. The radiation-induced mutant is used now also in crosses to confer the desired short stature to other rice varieties. (author)

Improved short-stature rice created by radiation-induced mutation

Energy Technology Data Exchange (ETDEWEB)

NONE

1977-06-15

A new mutant variety of rice, named Calrose 76, has recently been released to farmers in California. The mutant was the result of irradiating seeds of the rice variety Calrose with gamma rays from a cobalt-60 source. The variety is the result of co-operative research between Dr. J.N. Rutger, U.S. Department of Agriculture research geneticist at Davis, California, Prof. M.L. Peterson, University of California, and Dr. Chao-Hwa Hu, an IAEA fellow. The mutant that was ultimately released as a new variety was selected in the second generation following irradiation of the Calrose seeds. Selections were also made in a non-irradiated control population, but none proved to be desirable. After its selection in 1971, the mutant was subsequently tested for several years for agronomic performance, grain yield and quality characteristics. It was found to have the same yielding capacity as the widely grown check variety, CS-M3. It also did not differ in seedling vigour or in heading date, but its mature stem is about 35 cm shorter and less susceptible to lodging. Therefore, it yields more grain under conditions of high soil fertility. The short stature is inherited by a single recessive gene, allelic to the gene for short stature widely used in rice cultivars of the International Rice Research Institute in the Philippines (IRRI). The radiation-induced mutant has the advantage that the gene for short stature now exists in a genotype which is adapted to Californian conditions and which possesses the required cold tolerance and grain qualities. Attempts to transfer short stature from the tropical variety IR8 (produced by IRRI) have been complicated by sterility, cold susceptibility, and unacceptable grain quality. The radiation-induced mutant is used now also in crosses to confer the desired short stature to other rice varieties. (author)

STUDY OF CLINICAL PROFILE OF PATIENTS WITH SHORT STATURE VISITING A TERTIARY CARE HOSPITAL

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Arun Kumar Choudhury

2016-07-01

Full Text Available BACKGROUND Short stature is one of the common causes of referral of children to endocrine unit. It may result due to various causes and elucidating the exact cause is necessary to formulate the right therapy. OBJECTIVE To study the various aetiologies and clinical presentation of patients presenting with short to a tertiary care hospital. DESIGN Cross sectional study MATERIAL AND METHODS We collected and analysed the clinical, biochemical, radiological and hormonal data of 104 consecutive patients who presented to our department from January 2015 to March 2016 for evaluation of short stature. RESULTS Majority of the subjects studied belonged to 10-15 years group (44.23% followed by 5-10 years age group (31.73%. The most common cause in our population was due to familial short stature (29.80%. The next common causes included chronic medical illness (23.08% followed by hypothyroidism (13.46%. Majority of patients presenting for evaluation of short stature were males (60.58%. CONCLUSIONS Short stature is caused due to a multitude of causes. In our population, familial short stature was the most common aetiology

A rare cause of short stature: transsphenoidal encephalocele.

Science.gov (United States)

Bayram, Özhan; Sebahat, Ağladıoğlu Yılmaz; Kadir, Ağladıoğlu; Ali, Koçyiğit

2014-12-01

Basal encephaloceles are rare, accounting for about 1.5% of all encephaloceles. Transsphenoidal encephaloceles represent less than 5% of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.

Short stature in children: Pattern and frequency in a pediatric clinic, Riyadh, Saudi Arabia.

Science.gov (United States)

Al-Jurayyan N, Nasir A; Mohamed, Sarar H; Al Otaibi, Hessah M; Al Issa, Sharifah T; Omer, Hala G

2012-01-01

Longitudinal growth assessment is essential in child care. Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. The objective of this study was to determine the pattern of short stature among patients referred to an endocrine pediatric clinic, King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia and to ascertain the aetiological profile of short stature. This is a retrospective review of patients referred to a pediatric endocrine clinic with short stature during the period January 1990 and December 2009. After a proper detailed medical history, growth analysis and physical examination, followed by a radiological (bone age) and laboratory screening (complete blood count and thyroid function). Growth hormone stimulation tests were performed when indicated. Magnetic resonance imaging (MRI) of the pituitary was performed when necessary. As well, celiac screening and small bowel biopsy were performed when appropriate. During the period under review, hundred and ten patients were evaluated for short stature. Their age ranged from 2 years and six months to 4 years. The male to female ratio was 1.3:1. The commonest etiology was genetic short stature found in 57 (51.8%) patients, while in the other 53 (48.2%) patients, variable endocrine and nutritional causes were noted. Short stature was a common referral. A wide variety of etiological diagnosis was noticed with genetic short stature being the commonest. A wide variety of endocrine causes were evident, with growth hormone deficiency, as a results of different etiologies, being the commonest.

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

Metacarpal index in short stature before and during growth hormone treatment

OpenAIRE

Bettendorf, M.; Graf, K.; Nelle, M.; Heinrich, U.; Troger, J.

1998-01-01

AIMS—To assess the usefulness of the metacarpal index (MCI) as a radiographic measure of the proportions of the metacarpals in the differential diagnosis of short stature. To investigate the significance of the MCI in following the longitudinal growth and proportions of individual long bones during growth hormone stimulated catch up growth in children with short stature with and without growth hormone deficiency.
SUBJECTS—124 children, including 65 children with short sta...

Isolated short stature as a presentation of celiac disease in Saudi children

Directory of Open Access Journals (Sweden)

Asaad Mohamed Assiri

2010-06-01

Full Text Available The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine labora-tory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical assessments, including total protein, serum albumin, calcium phosphate and alkaline phosphatase assays; renal function tests; coagulation profile; anti-endomysial antibodies and anti-tissue transglutaminase antibody, growth hormone, thyroid stimulating hormone, free-thyroxin (FT4 assays; stool tests for giardiasis; bone age; and endoscopic intestinal biopsies, were done for all children. Ten of the 91 children had positive intestinal biopsies in the form of total villous atrophy, an increase in crypt height, and an increase in intra-epithelial lymphocyte (IEL numbers up to >40 IEL/100 EC (Type 3C according to the Oberhuber classification, confirming the diagnosis of celiac disease. Five children had mild villous atrophy according to this classification (Type 3A, and they were considered to have potential celiac disease. Seventy-six children had normal intestinal biopsies. Therefore, the prevalence of celiac disease among Saudi children with short stature was 10.9%, and 4.3% of the children were diagnosed as having potential celiac disease. After confirming the diagnosis of celiac disease, all children were kept on a gluten-free diet and all of them showed improvement in their growth rate. We concluded that celiac disease is a very important cause of short stature in children without gastrointestinal complaints in Saudi Arabia. We highly recommend anti-tissue transglutaminase and anti-endomysial antibody screening tests, and a small bowel biopsy to confirm the diagnosis of celiac disease irrespective of the results of the antibody assays, in children with

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Science.gov (United States)

Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

2015-09-16

Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

Endocrinological Assessment Of Children With Significant Short Stature Using Radioimmunoassay Techniques

International Nuclear Information System (INIS)

Ghaly, Isis; Hafez, Mona; Shousha, M. A.

2004-01-01

This study was undertaken to determine the prevalence of clinical diagnosis in a group of children with significant short stature, height <-2.5 standard deviation below the mean for age and sex. Forty-nine children-l 8 female and 31 males-were included, mean age was 11.14 yr. (range 1.18 to 19 yr.). Clinical diagnosis, axiological measurements, thyroid profile, growth hormone, autoantibody screening for celiac disease were assessed. The patients were classified into 5 groups: Group I. familial short stature (FSS)and constitutional delay in growth and puberty (CDGP), (12%); group II. growth hormone deficiency (GHD), 54%; group III. Laron type of dwarfism (LTD) (10%); group IV. growth hormone neurosecretory disorder (GHND, 16%); group V. celiac disease (GSE, 8%). From this study the group with short normal variant (FSS-CDGP), uncommonly presents with significant short stature. Cranial CT scan should performed in any child with the diagnosis of GHD to exclude organic causes of GHD. In the group of GHND, a normal GH values to provocative tests does not guarantee sufficient GH secretion and should not be used to exclude these children from hGH treatment. Further investigations by measurement of integrated GH and IGFI may aid in the diagnosis of this disorder. Celiac disease may present only by short stature, therefore antibody screening tests should be a routine investigation for all children presented with unexplained short stature. Patient with GHD showed significant improvement of their GV SDS during treatment with hGH (p=0.021). Also children with GSE showed significant catch up growth after gluten withdrawal from the diet (p=0.029). (Authors)

Magnetic resonance and the diagnosis of short stature of hypothalamic-hypophyseal origin

International Nuclear Information System (INIS)

Vannelli, S.; Avataneo, T.; Benso, L.; Potenzoni, F.; Cirillo, S.; Mostert, M.; Bona, G.

1993-01-01

Magnetic resonance imaging was performed in 23 patients with short stature (7 had multiple pituitary hormone defect, 11 had isolated growth hormone deficiency and 5 had normal variant short stature) to investigate if there is a relation between magnetic resonance findings and results of endocrine tests. Magnetic resonance imaging of patients with multiple pituitary hormone deficiency or with serious isolated growth hormone deficiency (growth hormone 3μg/l) or with normal variant short stature, the technique revealed a normal or hypoplastic hypophysis. Magnetic resonance appears to be a useful second-level diagnostic tool in defining the type of alteration in growth defects of endocrine origin. 26 refs., 5 figs., 2 tabs

A rare case of short stature: Say Meyer syndrome.

Science.gov (United States)

Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

2013-10-01

Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

A rare case of short stature: Say Meyer syndrome

Directory of Open Access Journals (Sweden)

T S Karthik

2013-01-01

Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.

Science.gov (United States)

Alharthi, Abdulla A; El-Hallous, Ehab I; Talaat, Iman M; Alghamdi, Hamed A; Almalki, Matar I; Gaber, Ahmed

2017-10-01

Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene ( SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX . In Saudi Arabia ISS patients, rather than SHOX , it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

[Short stature in children of Karapotó ethnic background, São Sebastião, Alagoas, Brazil].

Science.gov (United States)

Campos, Samara Bonfim Gomes; de Menezes, Risia Cristina Egito; Oliveira, Maria Alice Araújo; Silva, Danielle Alice Vieira da; Longo-Silva, Giovana; Oliveira, Juliana Souza; Asakura, Leiko; Costa, Emília Chagas; Leal, Vanessa Sá

2016-06-01

To describe the prevalence of short stature among children of Karapotó ethnic background. Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Age index, using as cutoff z score ≤-2. The prevalence of short stature was determined by comparing simple and relative frequencies. The population growth curves were compared to the WHO reference curves. Data analysis included the outcome variable: Height/Age and the predictor variables: place of residence, gender, age, anemia, birth weight, family income, maternal literacy. The chi-square test was used to compare the categorical variables, whereas the chi-square test with Yates correction was used for dichotomous variables, considering as statistically significant p-values≤0.05. The prevalence of short stature was 15.6% for children from the Terra Nova settlement and 9.1% for those from Plak-Ô native village. The prevalence of short stature among the Karapotó ethnicity was 13.4%. The variables: maternal literacy, family income and low birth weight were statistically associated with short stature. The observed short stature prevalence rates are significant, being characterized as a public health problem. Among the associated factors, the following are noteworthy: unfavorable conditions of maternal literacy, family income and low birth weight. The planning of strategies to reverse the situation must take such factors into consideration. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Science.gov (United States)

Vasques, Gabriela A; Funari, Mariana F A; Ferreira, Frederico M; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Barraza-García, Jimena; Lerario, Antonio M; Yamamoto, Guilherme L; Naslavsky, Michel S; Duarte, Yeda A O; Bertola, Debora R; Heath, Karen E; Jorge, Alexander A L

2018-02-01

Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH. Copyright © 2017 Endocrine Society

Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy

NARCIS (Netherlands)

Hennekam, R. C.; Renckens-Wennen, E. G.

1990-01-01

We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases

Orphan disease: Cherubism, optic atrophy, and short stature.

Science.gov (United States)

Jeevanandham, Balaji; Ramachandran, Rajoo; Dhanapal, Vignesh; Subramanian, Ilanchezhian; Sai, Venkata

2018-01-01

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

Genetic evaluation of proportionate short stature in Alexandria, Egypt

African Journals Online (AJOL)

Introduction: Compared with a genetically relevant population, short stature (ss) is defined as a standing height more than 2 standard deviations below the mean (or below the third percentile) for gender. SS is a common problem for children and adolescents worldwide. The Aim: This study was conducted to reveal the ...

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

Science.gov (United States)

Goecke, C; Mellado, C; García, C; García, H

2018-02-01

Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

Maternal short stature: A risk factor for low birth weight in neonates

Directory of Open Access Journals (Sweden)

Vipin Chandra Kamathi

2012-08-01

Full Text Available Low birth weight (LBW is the most common cause of perinatal mortality, causing almost 30 percent of neonatal deaths. On the other hand, maternal short stature is known to cause a lot of obstetric complications like cephalopelvic disproportion and arrest of labor, intrauterine asphyxia, intrauterine growth retardation. The objective of our study was to find out whether there was any significant statistical association between maternal height and the birth weight of the neonate. We identified a group of low birth weight neonates (n=54 and a control group (n=51 of normal weight neonates at term in Mediciti Hospital over a period of 1 year and retrospectively looked the maternal heights for both groups. Inclusion criteria being mothers who delivered at term, mothers who had a hemoglobin level more than 10 gm/dl, mothers with relatively uneventful antenatal without any significant obstetric or medical complications during the pregnancy, and neonates with relatively uneventful post-natal periods without any significant pediatric or medical complications. The odds of having been born of a mother of short stature are more than three times greater for a low birth weight baby than a normal weight baby. The mean of birth weights of babies born to mothers of normal height is more than the mean of birth weights of babies born to mothers of short stature by 277.01 gm. This study reaffirms the observation that maternal height has a direct effect on the weight of the newborn and we propose that maternal short stature be identified as an independent risk factor for low birth weight.

GROWTH HORMONE TREATMENT OF CHILDREN WITH SHORT STATURE LIVED IN SAMARA REGION

Directory of Open Access Journals (Sweden)

E.G. Mikhailova

2009-01-01

Full Text Available Growth inhibition in children is heterogeneous state, and it may accompany many endocrine, somatic, genetic and chromosome diseases. Generally recognized medications for treatment of somatotropic insufficiency in present times are biosynthetic analogs of human growth hormone (hGH, obtained with DNA-recombinant technology. This article presents the results of estimation of effectiveness of hGH in treatment of children with short stature (n=77 with isolated deficiency of growth hormone, panhypopituitarism, Turner's syndrome, treated with hGH during 3 years. All patients had significant positive dynamics of clinical status, the velocity of grouth increased from 1.9 cm (initial per year to 11.0 cm (the end of first year, with following decrease to 5.3 cm per year. SDS index of growth had stable tendency to increase: medium SDS index of growth initially was -3.9 SD, on the end of third year – -2.0 SD. It was shown, that treatment with hGH is effective in any types of short stature.Key words: children, short stature, treatment, human growth hormone.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2009;8(1:108-113

Measuring agreement between cervical vertebrae and hand-wrist maturation in determining skeletal age: reassessing the theory in patients with short stature.

Science.gov (United States)

Danaei, Shahla Momeni; Karamifar, Amirali; Sardarian, Ahmadreza; Shahidi, Shoaleh; Karamifar, Hamdollah; Alipour, Abbas; Ghodsi Boushehri, Sahar

2014-09-01

The objective of this study was to determine the degree of agreement between hand-wrist radiography and cervical vertebral maturation analysis in patients diagnosed with short stature. A cross-sectional study was designed; 178 patients (90 girls, 88 boys) diagnosed with short stature and seeking treatment were selected. The patients were divided into 2 groups (76 with familial short stature, 102 with nonfamilial short stature). Hand-wrist and lateral cephalometric radiographs were obtained from the patients. The hand-wrist radiographs were analyzed using the Fishman method, and the lateral cephalometric views were categorized according to the method of Hassel and Farman. The degree of agreement between the 2 methods of predicting skeletal maturation was measured by calculating the contingency coefficient and the weighted kappa statistic. A high degree of agreement was observed between the 2 methods of analyzing skeletal maturation. It was also observed that agreement was higher in girls in the familial short-stature group, whereas boys had higher agreement in the nonfamilial short-stature group. Cervical vertebral maturation can be a valuable substitute for hand-wrist radiography in patients with short stature. Copyright © 2014 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

Orphan disease: Cherubism, optic atrophy, and short stature

Directory of Open Access Journals (Sweden)

Balaji Jeevanandham

2018-01-01

Full Text Available A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.

Hyperphagic short stature: A case report and review of literature

Directory of Open Access Journals (Sweden)

Varsha S Jagtap

2012-01-01

Full Text Available A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH. At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS. The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual.

Hyperphagic short stature: A case report and review of literature

Science.gov (United States)

Jagtap, Varsha S.; Sarathi, Vijaya; Lila, Anurag R.; Bukan, Amol P.; Bandgar, Tushar; Menon, Padmavathy; Shah, Nalini S.

2012-01-01

A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother–child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual. PMID:22837929

MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions

OpenAIRE

Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

2017-01-01

We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due...

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

International Nuclear Information System (INIS)

Nishimura, G.; Haga, Yoshihiko; Aoki, Katsuhiko; Hasegawa, Tomoko

1998-01-01

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.)

45,X/47,XXX Mosaicism and Short Stature.

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Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

2015-01-01

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

Prevalence of SHOX Haploinsufficiency among Short Statured Children

DEFF Research Database (Denmark)

Marstrand-Joergensen, Maja Rou; Beck Jensen, Rikke; Aksglaede, Lise

2017-01-01

were recorded for patients with SHOX haploinsufficiency. RESULTS: Thirty-two patients were excluded due to Turner syndrome (n=28), SRY-positive 46,XX male karyotype (n=1), or lacked clinical follow-up information (n=3).The prevalence of SHOX haploinsufficiency was nine out of 542 (1.7%). The nine......=0.046, after one year of GH treatment. CONCLUSION: The prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies....

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

Energy Technology Data Exchange (ETDEWEB)

Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

1998-12-01

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

Pituitary stalk interruption syndrome presenting as short stature: a case report.

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Ram, Nanik; Ali, Syed Ahsan; Hussain, Syed Zubair

2014-12-19

Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan. A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome. We describe a young

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

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Li, Chuan; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Qian, Jiale; Wang, Jin; Xie, Bobo; Shen, Yiping; Chen, Shaoke

2015-04-11

Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. We reported a 4-year and 6 month-old boy with a rare combination of WS1 and severe short stature (83.5 cm (-5.8SD)). His facial features include dystopia canthorum, mild synophrys, slightly up-slanted palpebral fissure, posteriorly rotated ears, alae nasi hypoplasia and micrognathia. No heterochromia was noticed. He had a normal intelligence quotient and hearing. Insulin-like growth factor-1 (IGF-1) was 52.7 ng/ml, lower than the normal range (55 ~ 452 ng/ml) and the peak growth hormone level was 7.57 ng/ml at 90 minutes after taking moderate levodopa and pyridostigmine bromide. The patient exhibited a good response to human growth hormone (rhGH) replacement therapy, showing a 9.2 cm/year growth rate and an improvement of 1 standard deviation (SD) of height after one year treatment. CMA test of patient's DNA revealed a 4.46 Mb de novo deletion at 2q35-q36.2 (hg19; chr2:221,234,146-225,697,363). PAX3 haploinsufficiency is known to cause Waardenburg syndrome. Examining overlapping deletions in patients led to the conclusion that EPHA4 is a novel short stature gene. The finding is supported by the splotch-retarded and epha4 knockout mouse models which both showed growth retardation. We believe this rare condition is caused by the haploinsufficiency of both PAX3 and EPH4 genes. We further reported a growth response to recombinant human growth hormone treatment in this patient.

Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

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Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

Associations between Psychological Problems and Quality of Life in Pediatric Short Stature from Patients’ and Parents’ Perspectives

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Bullinger, Monika; Sommer, Rachel; Rohenkohl, Anja Christine; Bernardino Da Silva, Neuza Maria

2016-01-01

Short stature has been associated with psychosocial impairments, but whether treatments and achieved height impact on health-related quality of life (HrQoL) and psychological functioning of children/adolescents is still controversial. This study aimed to examine the effects of height deviation and treatment status on psychosocial adaptation outcomes and to identify clinical and psychosocial determinants of internalizing/externalizing problems in a large cohort of short statured children/adolescents from seven European countries. Participants were 345 children aged 8–18 years with a clinical diagnosis of short stature and 421 parents of 4–18 year-old patients. Children and parents reported on psychological problems (Strengths and Difficulties Questionnaire), generic (KIDSCREEN) and condition-specific HrQoL (QoLISSY). According to analyses of covariance, children/adolescents with current short stature presented more parent-reported internalizing problems and lower self- and parent-reported condition-specific HrQoL, compared to patients with an achieved height above -2SD. Treated children self-reported better HrQoL than the untreated group. Hierarchical regression analysis showed that, rather than height–related clinical variables, children’s sex, younger age and poorer HrQoL were the best predictors of psychological problems, explaining 39% of the variance in patient- and 42% in parent-reported internalizing problems, and 22% of the variance in patient- and 24% in parent-reported externalizing problems. Treatment status also moderated the negative links between patient-reported HrQoL and internalizing problems, explaining 2% of additional variance. These results suggest that children with current short stature are at greater risk for internalizing problems. Routine assessment of HrQoL in pediatric healthcare may help identify children for referral to specialized psychological assessment and intervention. PMID:27097033

Parents' perception about child's height and psychopathology in community children with relatively short stature

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Jun-Won Hwang

2015-06-01

Full Text Available PurposeThis study investigated the relationship between height and psychopathology in community children with relatively short stature according to the parents' reports. Also, the matter of parental concern about child's height was explored.MethodsThe child behavior checklist (CBCL, the Brief Encounter Psychosocial Instrument (BEPSI, and the child-health questionnaire-parent form 50 (CHQ-PF50 were administered to 423 parents (from elementary and middle school children's in Gangnam, South Korea. Subjects were divided into three groups; (1 relatively short (n=30, (2 average stature (n=131, (3 relatively tall (n=153. CBCL, BEPSI, and CHQ-PF50 scores were compared among three groups.ResultsThere were no significant differences in psychosocial burden associated with relatively short stature measured by Korean version of the BEPSI and Korean version of the CBCL scores among three groups. But general health perception score of relatively short was significantly lower than that of nonshort on the CHQ-PF50. Also, they were more used complementary medicines, milk and growth hormone compared to the nonshort. The parents' expected height of their children was 180.6±3.5 cm for boys and 166.7±3.5 cm for girls. This is respectively 90 percentile and 75-90 percentile for the Korean standard adult height.ConclusionOur study shows that in Korea, Parents tended to regard relatively short children as having health problems. Also, the parental expectation for their child's attainable height is unrealistically tall, mostly due to lack of correct medical information.

Waist-to-Height Gain and Triiodothyronine Concentrations in a Cohort of Socially Vulnerable Short-Stature Women: A Four-Year Follow-Up Study.

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Florêncio, Telma M M T; Bueno, Nassib B; Britto, Revilane A P; Albuquerque, Fabiana C A; Lins, Isabela L L; Sawaya, Ana L

2016-01-01

Short stature that results from undernourishment during perinatal period is associated with an increased risk of diabetes and cardiovascular diseases in adulthood, particularly in poor populations. The present study investigated changes on anthropometric and metabolic parameters of socially vulnerable women with short stature. A prospective study with 48 women (19-45 years) who were mothers of undernourished children was conducted. Twenty-five of them were short (height ≤150 cm), and 23 were not short, to serve as a control (height >159 cm). Biochemical, anthropometric and dietary intake data were collected, before and after 4 years of follow-up. A mixed within-between analysis of covariance was used to assess the interaction between 'group' and 'time'. Waist-to-height ratio increased only in the short stature group, with significant interaction (+0.03 ± 0.03 in short group vs. +0.01 ± 0.03 in control; p for interaction = 0.04). The short stature group showed a significant decrease in the plasma triiodothyronine (T3) concentrations, without significant interaction (-0.16 ± 0.23 ng/ml in short group vs. -0.04 ± 0.29 ng/ml in control; p for interaction = 0.20). Women of short stature presented an increase in waist-to-height ratio, with a simultaneous decrease in total plasma T3. These alterations may lead them to increased risk of comorbidities. © 2016 S. Karger AG, Basel.

[How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents?].

Science.gov (United States)

Quitmann, Julia; Rohenkohl, Anja; Sommer, Rachel; Petzold, Sophie; Bullinger-Naber, Monika

2014-01-01

How do Affected Children and Adolescents Experience their Short Stature, and what is the Point of View of their Parents? Despite a large number of publications on the psychosocial situation of short statured children and their parents only a few qualitative studies focus on the perspective of the affected families. Within the European QoLISSY study ("Quality of Life in Short Stature Youth") an instrument to assess the health related quality of life of short statured children was developed. The aim of this project was to examine the self-perceived quality of life of the children themselves in comparison to their parents' perspective. During the development of the QoLISSY instrument, focus groups were conducted as a first step of this study. A total of 23 short statured children and 31 parents participated and discussed their experiences in separate groups with trained moderators. The discussions were analyzed qualitatively und results were used to generate a first list of items for the questionnaire to be developed. While parents focused on socio-emotional problems, children talked much more about their growth hormone treatment and problems in their social environment. In comparison to other studies children rated their quality of life worse than their parents. Not only medical treatment but also a psychological and socio-emotional intervention seems to be indicated.

Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

Science.gov (United States)

Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

2008-01-01

We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.

Science.gov (United States)

Rubio-Cabezas, Oscar; Gómez, José Luis; Gleisner, Andrea; Hattersley, Andrew T; Codner, Ethel

2016-10-01

Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism.

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

Directory of Open Access Journals (Sweden)

Meredith Wasserman

2017-01-01

Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

Celiac disease, iron deficiency anaemia, grave's disease, osteopenia and short stature in single patient

International Nuclear Information System (INIS)

Radaideh, A.M.

2015-01-01

Celiac disease is an intestinal immune mediated disorder, triggered by ingestion of gluten-containing diet in genetically susceptible individuals. The genetic pre-disposition is related to human leukocyte antigen (HLA) class II genes, especially HLA-DQ2 positive patients. The prevalence of celiac disease in high worldwide and it has been estimated to be 1-26% in Western countries. Many auto-immune diseases can be associated with celiac disease including auto-immune thyroid disease; hashimoto thyroiditis and grave's disease. The opposite also appears to be true, celiac disease is found on persons with auto-immune thyroid disorders at high rates than the general population. Celiac disease is also associated with other extraintestinal diseases other the auto-immune diseases like anemia, short stature, metabolic bone disease and others. Screening for celiac disease should be considered in patients with auto-immune thyroid disease, anemia, short stature and metabolic bone disease. The life-long adherence to gluten-free diet is the only cure in celiac disease and can improve the quality of patients life and prevent future complications. This report describes a case of Grave's disease, Iron deficiency anemia, Short stature, Osteopenia, diagnosed to have Celiac disease. (author)

A boy with 46,X,+mar presenting gynecomastia and short stature

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Ki Eun Kim

2017-12-01

Full Text Available A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs. The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Ydel(Y(q11.21q11.222del(Y(q11.23qter. Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

Quality of life and self-esteem in children treated for idiopathic short stature

NARCIS (Netherlands)

Theunissen, N.C.M.; Kamp, G.A.; Koopman, H.M.; Zwinderman, K.A.H.; Vogels, T.; Wit, J.-M.

2002-01-01

Objective: Changes in health-related quality of life (HRQOL) and self-esteem were studied in children with idiopathic short stature (ISS) participating in a study on the effect of growth hormone treatment. Study design: Prepubertal children (n = 36) with ISS were randomly assigned to a treatment or

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency

OpenAIRE

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-01-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD s...

Identity modulates short-term memory for facial emotion.

Science.gov (United States)

Galster, Murray; Kahana, Michael J; Wilson, Hugh R; Sekuler, Robert

2009-12-01

For some time, the relationship between processing of facial expression and facial identity has been in dispute. Using realistic synthetic faces, we reexamined this relationship for both perception and short-term memory. In Experiment 1, subjects tried to identify whether the emotional expression on a probe stimulus face matched the emotional expression on either of two remembered faces that they had just seen. The results showed that identity strongly influenced recognition short-term memory for emotional expression. In Experiment 2, subjects' similarity/dissimilarity judgments were transformed by multidimensional scaling (MDS) into a 2-D description of the faces' perceptual representations. Distances among stimuli in the MDS representation, which showed a strong linkage of emotional expression and facial identity, were good predictors of correct and false recognitions obtained previously in Experiment 1. The convergence of the results from Experiments 1 and 2 suggests that the overall structure and configuration of faces' perceptual representations may parallel their representation in short-term memory and that facial identity modulates the representation of facial emotion, both in perception and in memory. The stimuli from this study may be downloaded from http://cabn.psychonomic-journals.org/content/supplemental.

Combined effect of short stature and socioeconomic status on body mass index and weight gain during reproductive age in Brazilian women

Directory of Open Access Journals (Sweden)

Sichieri R.

2003-01-01

Full Text Available Short stature, a marker for undernutrition early in life, has been associated with obesity in Brazilian women, but not in men. We tested the hypothesis that weight gain during the reproductive years could explain this gender difference. A national two-stage household survey of mothers with one or more children under five years of age was conducted in Brazil in 1996. The subjects were women aged 20 to 45 years (N = 2297, with last delivery seven months or more prior to the interview. The regions of the country were divided into rural, North/Northeast (urban underdeveloped and South/Southeast/Midwest (urban developed. The dependent variables were current body mass index (BMI measured, BMI prior to childbearing (reported, and BMI change. Socioeconomic variables included mother's years of education and family purchasing power score. A secondary analysis was restricted to primiparous women. The prevalence of current overweight and overweight prior to childbearing (BMI > or = 25 kg/m² was higher among shorter women (<1.50 m compared to normal stature women only in the urban developed region (P < 0.05. After adjustment for socioeconomic variables, age, parity, BMI prior to childbearing, and age at first birth, current BMI was 2.39 units higher (P = 0.008 for short stature women living in the urban developed area compared with short stature women living in the urban underdeveloped area. For both multiparous and primiparous women, BMI gain compared to the value prior to childbearing was significantly higher among short stature women living in the urban developed region (P <= 0.04. These results provide clear evidence that short stature was associated with a higher BMI and with an increased risk of weight gain/retention with pregnancy in the developed areas of Brazil, but not in the underdeveloped ones.

Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.

Science.gov (United States)

Poidvin, Amélie; Touzé, Emmanuel; Ecosse, Emmanuel; Landier, Fabienne; Béjot, Yannick; Giroud, Maurice; Rothwell, Peter M; Carel, Jean-Claude; Coste, Joël

2014-08-26

We investigated the incidence of stroke and stroke subtypes in a population-based cohort of patients in France treated with growth hormone (GH) for short stature in childhood. Adult morbidity data were obtained in 2008-2010 for 6,874 children with idiopathic isolated GH deficiency or short stature who started GH treatment between 1985 and 1996. Cerebrovascular events were validated using medical reports and imaging data and classified according to standard definitions of subarachnoid hemorrhage, intracerebral hemorrhage, and ischemic stroke. Case ascertainment completeness was estimated with capture-recapture methods. The incidence of stroke and of stroke subtypes was calculated and compared with population values extracted from registries in Dijon and Oxford, between 2000 and 2012. Using both Dijon and Oxford population-based registries as references, there was a significantly higher risk of stroke among patients treated with GH in childhood. The excess risk of stroke was mainly attributable to a very substantially and significantly higher risk of hemorrhagic stroke (standardized incidence ratio from 3.5 to 7.0 according to the registry rates considered, and accounting or not accounting for missed cases), and particularly subarachnoid hemorrhage (standardized incidence ratio from 5.7 to 9.3). We report a strong relationship between hemorrhagic stroke and GH treatment in childhood for isolated growth hormone deficiency or childhood short stature. Patients treated with GH worldwide should be advised about this association and further studies should evaluate the potentially causal role of GH treatment in these findings. © 2014 American Academy of Neurology.

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Science.gov (United States)

Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

1994-01-01

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

Maternal short stature does not predict their children's fatness indicators in a nutritional dual-burden sample of urban Mexican Maya.

OpenAIRE

Wilson, HJ; Dickinson, F; Griffiths, PL; Bogin, B; Hobbs, M; Varela-Silva, MI

2014-01-01

The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty. Individuals who have very short stature seem to be at an increased risk of obesity in times of relative caloric abundance. Increasing evidence shows that an individual is influenced by exposures in previous generations. This study assesses whether maternal poor early life environment predicts her ...

Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive.

Science.gov (United States)

Yazbeck, Nadine; Hanna-Wakim, Rima; El Rafei, Rym; Barhoumi, Abir; Farra, Chantal; Daher, Rose T; Majdalani, Marianne

2016-01-01

The burden of zinc deficiency on children includes an increased incidence of diarrhea, failure to thrive (FTT) and short stature. The aim of this study was to assess whether children with FTT and/or short stature have lower dietary zinc intake and plasma zinc concentrations compared to controls. A case-control study conducted at the American University of Beirut Medical Center included 161 subjects from 1 to 10 years of age. Cases had a statistically significant lower energy intake (960.9 vs. 1,135.2 kcal for controls, p = 0.010), lower level of fat (30.3 vs. 36.5 g/day, p = 0.0043) and iron intake (7.4 vs. 9.1 mg/day, p = 0.034). There was no difference in zinc, copper, carbohydrate and protein intake between the 2 groups. The plasma zinc concentration did not differ between the cases and controls (97.4 vs. 98.2 μg/dl, p = 0.882). More cases had mild-to-moderate zinc deficiency when compared to controls with 10.3 vs. 3.6%, p = 0.095. Our study did not show statistically significant difference in dietary zinc intake and plasma zinc concentrations between children with FTT and/or short stature compared to healthy controls. A prospective study is planned to assess the effect of zinc supplementation on growth parameters in FTT children. © 2016 S. Karger AG, Basel.

Combined effect of short stature and socioeconomic status on body mass index and weight gain during reproductive age in Brazilian women.

Science.gov (United States)

Sichieri, R; Silva, C V C; Moura, A S

2003-10-01

Short stature, a marker for undernutrition early in life, has been associated with obesity in Brazilian women, but not in men. We tested the hypothesis that weight gain during the reproductive years could explain this gender difference. A national two-stage household survey of mothers with one or more children under five years of age was conducted in Brazil in 1996. The subjects were women aged 20 to 45 years (N = 2297), with last delivery seven months or more prior to the interview. The regions of the country were divided into rural, North/Northeast (urban underdeveloped) and South/Southeast/Midwest (urban developed). The dependent variables were current body mass index (BMI) measured, BMI prior to childbearing (reported), and BMI change. Socioeconomic variables included mother's years of education and family purchasing power score. A secondary analysis was restricted to primiparous women. The prevalence of current overweight and overweight prior to childbearing (BMI > or = 25 kg/m2) was higher among shorter women (parity, BMI prior to childbearing, and age at first birth, current BMI was 2.39 units higher (P = 0.008) for short stature women living in the urban developed area compared with short stature women living in the urban underdeveloped area. For both multiparous and primiparous women, BMI gain compared to the value prior to childbearing was significantly higher among short stature women living in the urban developed region (P <= 0.04). These results provide clear evidence that short stature was associated with a higher BMI and with an increased risk of weight gain/retention with pregnancy in the developed areas of Brazil, but not in the underdeveloped ones.

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

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Hisado-Oliva, Alfonso; Garre-Vázquez, Ana I; Santaolalla-Caballero, Fabiola; Belinchón, Alberta; Barreda-Bonis, Ana C; Vasques, Gabriela A; Ramirez, Joaquin; Luzuriaga, Cristina; Carlone, Gianni; González-Casado, Isabel; Benito-Sanz, Sara; Jorge, Alexander A; Campos-Barros, Angel; Heath, Karen E

2015-08-01

SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutations in ISS suggested that NPR2 mutations may also be involved in disproportionate short stature. The objective of the study was to investigate whether NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX mutation was detected. We undertook NPR2 mutation screening in 173 individuals referred for suspected LWD and 95 for ISS, with no known defect in SHOX or its enhancers. Intracellular localization and natriuretic peptide precursor C-dependent guanylate cyclase activity were determined for the identified NPR2 variants. Eight NPR2 variants were identified in nine individuals, seven referred for suspected LWD and two for ISS. Six were demonstrated to affect NPR-B cell trafficking and/or its ability to synthesize cyclic GMP (cGMP) under response to natriuretic peptide precursor C/brain natriuretic peptide stimulation. All pathogenic mutations were detected in the suspected LWD referral group (∼3%). Interestingly, one of these patients is currently being treated with recombinant human GH and in contrast to previous reports is showing a positive response to the treatment. NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified. However, no patient has yet presented with Madelung deformity. Thus, NPR2 should be screened in the SHOX-negative LWD referrals.

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

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Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis

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Naess Eva E

2007-02-01

Full Text Available Abstract Background To examine the subjective health status of adults with short stature (ShSt and compare with the general population (GP and one well-known chronic disease, rheumatoid artritis (RA. In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature. Methods A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16–61. Health status was assessed with SF-36 version 2. Comparison was done with age and gender matched samples from the general population in Norway (n = 264 and from subjects with RA (n = 88. Results The ShSt sample reported statistically significant impaired health status in all SF-36 subscales compared with the GP sample, most in the physical functioning, Mean Difference (MD 34 (95% Confidence Interval (CI 25–44. The ShSt reported poorer health status in mental health, MD 11 (95% CI 4–18 and social functioning, MD 11 (95% CI 2–20 but better in role physical MD 13 (95% CI 1–25 than the RA sample. On the other subscales there were minor difference between the ShSt and the RA sample. Within the short stature group there was a significant association between age and all SF-36 physical subcales, height was significantly associated with physical functioning while level of education was significantly associated with mental health. Conclusion People with short stature reported impaired health status in all SF-36 subscales indicating that they have health problems that influence their daily living. Health status seems to decline with increasing age, and earlier than in the general population.

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

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Manisha Goyal

2016-01-01

Full Text Available Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts, hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

Selecting short-statured children needing growth hormone testing: Derivation and validation of a clinical decision rule

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Bréart Gérard

2008-07-01

Full Text Available Abstract Background Numerous short-statured children are evaluated for growth hormone (GH deficiency (GHD. In most patients, GH provocative tests are normal and are thus in retrospect unnecessary. Methods A retrospective cohort study was conducted to identify predictors of growth hormone (GH deficiency (GHD in children seen for short stature, and to construct a very sensitive and fairly specific predictive tool to avoid unnecessary GH provocative tests. GHD was defined by the presence of 2 GH concentration peaks Results The initial study included 167 patients, 36 (22% of whom had GHD, including 5 (3% with certain GHD. Independent predictors of GHD were: growth rate Conclusion We have derived and performed an internal validation of a highly sensitive decision rule that could safely help to avoid more than 2/3 of the unnecessary GH tests. External validation of this rule is needed before any application.

Growth and adult height in GH-treated children with nonacquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findings.

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Coutant, R; Rouleau, S; Despert, F; Magontier, N; Loisel, D; Limal, J M

2001-10-01

We analyzed the final height of 146 short children with either nonacquired GH deficiency or idiopathic short stature. Our purpose was 1) to assess growth according to the pituitary magnetic resonance imaging findings in the 63 GH-treated children with GH deficiency and 2) to compare the growth of the GH-deficient patients with normal magnetic resonance imaging (n = 48) to that of 32 treated and 51 untreated children with idiopathic short stature (GH peak to provocative tests >10 microg/liter). The mean GH dose was 0.44 IU/kg.wk (0.15 mg/kg.wk), given for a mean duration of 4.6 yr. Among the GH-deficient children, 15 had hypothalamic-pituitary abnormalities (stalk agenesis), all with total GH deficiency (GH peak imaging, had better catch-up growth (+2.7 +/- 0.9 vs. +1.3 +/- 0.8 SD score; P imaging, there was no difference in catch-up growth and final height between partial and total GH deficiencies. GH-deficient subjects with normal magnetic resonance imaging and treated and untreated patients with idiopathic short stature had comparable auxological characteristics, age at evaluation, and target height. Although they had different catch-up growth (+1.3 +/- 0.8, +0.9 +/- 0.6, and +0.7 +/- 0.9 SD score, respectively; P imaging findings show the heterogeneity within the group of nonacquired GH deficiency and help to predict the response to GH treatment in these patients. The similarities in growth between the GH-deficient children with normal magnetic resonance imaging and those with idiopathic short stature suggest that the short stature in the former subjects is at least partly due to factors other than GH deficiency.

MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions.

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Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

2017-06-01

We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects.

A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.

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Keskin, Melikşah; Muratoğlu Şahin, Nursel; Kurnaz, Erdal; Bayramoğlu, Elvan; Savaş Erdeve, Şenay; Aycan, Zehra; Çetinkaya, Semra

2017-03-01

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39 th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3 rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature.

[Short stature treatment by lower limb lengthening--multicenter study from five centers].

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Koczewski, Paweł; Shadi, Milud; Napiontek, Marek; Dorman, T; Faflik, J; Grzegorzewski, A; Jasiewicz, B; Kacki, W; Kucharski, R; Niedzielski, K; Synder, M; Tesiorowski, M; Zarzycka, M; Zarek, S

2002-01-01

26 patients (17 female, 9 male) from 5 centers were evaluated. The age at the beginning of treatment ranged from 6 to 29 years (mean 13.8). The cause of short stature in 19 patients was achondroplasia or pseudoachondroplasia, in next 2--other bone dysplasias. The other 5 patients had not bone pathology and were treated because of cosmetic indications. Preoperative body height ranged from 90 to 149 cm (mean 120). Axial deviations of the lower extremities were noted in 11 patients. Mean follow-up was 3.7 years. METHOD OF TREATMENT: Most of patients were treated with Ilizarov device using cross lengthening strategy (2 stages--opposite femur and tibia lengthening). Mean duration of treatment including interval between two stages (mean 12 months) was 29 months. Planned increase of body height ranged from 10 to 26 cm (mean 16.4). Planned or greater lengthening (mean 14.8 cm) was achieved in 14 patients. Partial planned lengthening (mean 65% of planned lengthening) was achieved in 8 patients (mean 11.8 cm) including two patients who resigned the second stage of treatment. In two patients lengthening was stopped during first month of treatment because of great complications. In 2 patients treatment was not completed (interval between first and second stage). Mean increase of body height of patients with complete treatment was 13.1 cm (from 2 to 28). Problems, obstacles and complications were analyzed according to Paley classification. There were 24 problems in 15 patient (inflammation process around K wires--15 patients, bone healing disturbances--3, regenerate fracture--2, transient foot equinus--2 and axial deviation of the lower extremity--1). There were 31 obstacles in 19 patients (regenerate's defect--7 patients, premature bone consolidation--6, foot equinus--4 and other--14). There were 26 complications in 18 patients (axial deviation of the lengthened segment--8, foot equinus--6, paresis of the peroneal nerve--3, fractures--2 and other--5). The most serious

Impact of growth hormone therapy on adult height of children with idiopathic short stature: systematic review.

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Deodati, Annalisa; Cianfarani, Stefano

2011-03-11

To systematically determine the impact of growth hormone therapy on adult height of children with idiopathic short stature. Systematic review. Cochrane Central Register of Controlled Trials, Medline, and the bibliographic references from retrieved articles of randomised and non-randomised controlled trials from 1985 to April 2010. Height in adulthood (standard deviation score) and overall gain in height (SD score) from baseline measurement in childhood. Randomised and non-randomised controlled trials with height measurements for adults. Inclusion criteria were initial short stature (defined as height >2 SD score below the mean), peak growth hormone responses >10 μg/L, prepubertal stage, no previous growth hormone therapy, and no comorbid conditions that would impair growth. Adult height was considered achieved when growth rate was growth hormone treated children exceeded that of the controls by 0.65 SD score (about 4 cm). The mean height gain in treated children was 1.2 SD score compared with 0.34 SD score in untreated children. A slight difference of about 1.2 cm in adult height was observed between the two growth hormone dose regimens. In the seven non-randomised controlled trials the adult height of the growth hormone treated group exceeded that of the controls by 0.45 SD score (about 3 cm). Growth hormone therapy in children with idiopathic short stature seems to be effective in partially reducing the deficit in height as adults, although the magnitude of effectiveness is on average less than that achieved in other conditions for which growth hormone is licensed. The individual response to therapy is highly variable, and additional studies are needed to identify the responders.

Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

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Dutta, Usha R; Hansmann, Ingo; Schlote, Dietmar

2015-03-01

Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes. Here we report a three generation family with a heterozygous pericentric inversion of 46, XX, inv(3) (p24.1q26.1) associated with Short stature. Positional cloning strategy was used to physically map the breakpoint regions by Fluorescence in situ hybridization (FISH). Fine mapping was performed with Bacterial Artificial Chromosome (BAC) clones spanning the breakpoint regions. In order to further characterize the breakpoint regions extensive molecular mapping was carried out with the breakpoint spanning BACs which narrowed down the breakpoint region to 2.9 kb and 5.3 kb regions on p and q arm respectively. Although these breakpoints did not disrupt any validated genes, we had identified a novel putative gene in the vicinity of 3q26.1 breakpoint region by in silico analysis. Trying to find the presence of any transcripts of this putative gene we analyzed human total RNA by RT-PCR and identified transcripts containing three new exons confirming the existence of a so far unknown gene close to the 3q breakpoint. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

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Benito-Sanz, Sara; Aza-Carmona, Miriam; Rodríguez-Estevez, Amaya; Rica-Etxebarria, Ixaso; Gracia, Ricardo; Campos-Barros, Angel; Heath, Karen E

2012-01-01

Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the underlying molecular defect in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5-15% of idiopathic short stature (ISS) patients. Recently, three novel enhancer elements have been identified upstream of SHOX but to date, no PAR1 deletions upstream of SHOX have been observed that only encompass these enhancers in LWD or ISS patients. We set out to search for genetic alterations of the upstream SHOX regulatory elements in 63 LWD and 100 ISS patients with no known alteration in SHOX or the downstream enhancer regions using a specifically designed MLPA assay, which covers the PAR1 upstream of SHOX. An upstream SHOX deletion was identified in an ISS proband and her affected father. The deletion was confirmed and delimited by array-CGH, to extend ~286 kb. The deletion included two of the upstream SHOX enhancers without affecting SHOX. The 13.3-year-old proband had proportionate short stature with normal GH and IGF-I levels. In conclusion, we have identified the first PAR1 deletion encompassing only the upstream SHOX transcription regulatory elements in a family with ISS. The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS.

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

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Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine Johanne Theresia

2015-01-01

BACKGROUND: We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. METHODS AND RESULTS: Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis s...

The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity.

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Zayed, Ayman A; Mustafa Ali, Moaath K; Al-Ani, Mohammad A; Momani, Munther S; Yousef, Al-Motassem F

2014-12-01

The prevalence of isolated growth hormone deficiency (IGHD) among short-statured children in Jordan, where consanguineous marriage (CM) is common, is unknown. No studies have investigated the relationship between degrees of consanguinity and IGHD. This study aimed to determine the prevalence of IGHD among short-statured children referred to a university hospital in Jordan and its relationship with different degrees of consanguinity. We conducted a 24-month cross-sectional observational trial at an outpatient tertiary care center in Amman, Jordan. We obtained detailed family histories, medical evaluations and laboratory tests for 94 short-statured children (50 boys and 44 girls aged 6-16 years). Complete and partial GHD were defined as peak GH responses of 5 and 7 μg/l (15 and 21 mIU/l) [IRMA/DiaSorin®], respectively, in both exercise and insulin tolerance tests. GHD was diagnosed in 69·1% of the short children, including 86% (43/50) of the children of consanguineous parents (83·3%, 93·8% and 81·8% of children of first cousins, first cousins once removed and second cousins, respectively) and 50% (20/44) of the children of nonconsanguineous parents (P = 0·039, 0·002 and 0·013, respectively). However, there was no statistically significant difference in the prevalence of small pituitary MRI between GH-deficient children of consanguineous parents and those of nonconsanguineous parents (28·6% vs 13·6%, P = 0·3). The prevalence of IGHD among referred short children in Jordan was exceptionally high and significantly higher in the children of CM. In countries where CM is common, preconception counselling and rigorous surveillance for GHD in short children may be indicated. © 2014 John Wiley & Sons Ltd.

Disorders of childhood growth and development: failure to thrive versus short stature.

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Grissom, Maureen

2013-07-01

Failure to thrive (FTT) describes retarded growth in height and weight, whereas short stature (SS) involves comparison of a child or adolescent's height to that of a reference group or to his or her own height across time. To identify either condition in infants, children, and adolescents, the family physician should focus on accurate measurement of length/height and weight as well as careful plotting and assessment of the rate of linear growth and weight gain based on World Health Organization standards (from birth to 2 years) and Centers for Disease Control and Prevention charts (from age 2 years). Identification of the etiologies of FTT and SS is complex, requiring consideration of such factors as birth weight, prematurity, and familial height. FTT can result from inadequate caloric intake (eg, caused by difficulties with nursing, limited food availability, or incorrect formula preparation), inadequate caloric absorption (eg, resulting from metabolic, gastrointestinal, or other medical conditions), or excessive caloric expenditure/ineffective utilization (eg, due to hyperthyroidism, diabetes, pulmonary or cardiac conditions). Short stature can be due to a primary growth disorder, such as bone disease or chromosomal syndrome; a secondary factor, such as a chronic medical or endocrine disorder; or an undetermined etiology. The management of FTT and SS requires attention to a combination of medical and behavioral/social issues (eg, treating underlying conditions, assisting with the feeding process, addressing stress and social functioning), and often requires a multidisciplinary approach. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

Rathke′s cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty

OpenAIRE

Deep Dutta; Ajitesh Roy; Sujoy Ghosh; Pradip Mukhopadhyay; Ranen Dasgupta; Satinath Mukhopadhyay; Subhankar Chowdhury

2012-01-01

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke's cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC...

Auxological criteria for the diagnosis of GH-dependent short stature and prescription of rGH: problems and pitfalls

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Giulio Gilli

2007-12-01

Full Text Available Recombinant growth hormone (rGH administration is a cornerstone in the treatment of short stature secondary to GH deficit. Since its introduction in the 80s, the population of short patients with an indication to rGH therapy has clearly broadened, probably because of increased awareness by patients and physicians. Since rGH therapy is demanding for patients and expensive, the Italian National Health Service, like other third payers and regulatory authorities, regulates its prescription according to criteria listed in the Nota AIFA 39. This paper illustrates pitfalls and difficulties paediatricians may encounter when assessing short stature patients in order to decide upon the opportunity and possibility to initiate rGH therapy through the exposition of four emblematic, though hypothetical, clinical histories. In the discussion, the Authors highlight some of the most critical points in the formulation of the Nota 39, among which are the lack of clear reference values, neglecting of parental height targets and therapeutic responses, as well as some omissions in methodology specifications.

Prevalence of short stature, underweight, overweight, and obesity among school children in Jordan.

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Zayed, Ayman A; Beano, Abdallah M; Haddadin, Faris I; Radwan, Sohab S; Allauzy, Suhaib A; Alkhayyat, Motasem M; Al-Dahabrah, Zaid A; Al-Hasan, Yanal G; Yousef, Al-Motassem F

2016-10-03

The prevalence of short stature (SS) and underweight in Jordan on a national level is unknown. This study aimed to investigate, on a national level, the prevalence of short stature (SS), underweight, overweight, and obesity among school aged children in Jordan. This cross-sectional study was conducted from May 2015 to January 2016 and included 2702 subjects aged 6-17 years. Jordan was classified into 3 regions; North, Center (urban), and South (rural). Public and private schools were randomly selected from a random sample of cities from each region. The socioeconomic status of the sampling locations was assessed using several indicators including education, income, healthcare and housing conditions. For each participating subject, anthropometrics were obtained. SS, underweight, overweight and obesity were defined using Center of Disease Control's (CDC) growth charts. Median Z-scores for each region, age and gender were calculated. The Central and Northern regions enjoyed higher socioeconomic status compared to rural Southern regions. The overall prevalence of SS, underweight, overweight, and obesity were 4.9 %, 5.7 %, 17.3 %, and 15.7 %, respectively. SS and underweight were most prevalent in the rural South, while obesity was highest in the Central region. Females were more likely to be overweight, while males were more likely to be obese. Private schools had higher prevalence of obesity and overweight than public ones. Variations in height and weight among Jordanian school children might be affected by socioeconomic status.

Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency

OpenAIRE

Rubio-Cabezas, Oscar; G?mez, Jos? Luis; Gleisner, Andrea; Hattersley, Andrew T.; Codner, Ethel

2016-01-01

Context: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Case Description: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of co...

Short Maternal Stature Increases Risk of Small-for-Gestational-Age and Preterm Births in Low- and Middle-Income Countries

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Kozuki, Naoko; Katz, Joanne; Lee, Anne Cc

2015-01-01

BACKGROUND: Small-for-gestational-age (SGA) and preterm births are associated with adverse health consequences, including neonatal and infant mortality, childhood undernutrition, and adulthood chronic disease. OBJECTIVES: The specific aims of this study were to estimate the association between...... short maternal stature and outcomes of SGA alone, preterm birth alone, or both, and to calculate the population attributable fraction of SGA and preterm birth associated with short maternal stature. METHODS: We conducted an individual participant data meta-analysis with the use of data sets from 12...... population-based cohort studies and the WHO Global Survey on Maternal and Perinatal Health (13 of 24 available data sets used) from low- and middle-income countries (LMIC). We included those with weight taken within 72 h of birth, gestational age, and maternal height data (n = 177,000). For each...

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

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Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

2001-01-01

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

Spinal anesthesia using Taylor's approach helps avoid general anesthesia in short stature asthmatic patient

OpenAIRE

Patil, Amarjeet Dnyandeo; Bapat, Manasi; Patil, Sunita A.; Gogna, Roshan Lal

2015-01-01

The case history of a 35-year-old female patient with short stature is presented. She was posted for rectopexy in view of rectal prolapse. She was a known case of bronchial asthma. She had crowding of intervertebral spaces, which made administration of spinal anesthesia via the normal route very difficult. Taylor′s approach for administration of the same was tried and proved successful, thus saving the patient from receiving general anesthesia in the presence of bronchial asthma, for a perine...

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

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Hirschfeldova, K; Solc, R; Baxova, A; Zapletalova, J; Kebrdlova, V; Gaillyova, R; Prasilova, S; Soukalova, J; Mihalova, R; Lnenicka, P; Florianova, M; Stekrova, J

2012-01-10

The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (-2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+ and LWD+ groups were positivity associated with a disproportionately short stature; in the ISS+ group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. Copyright © 2011 Elsevier B.V. All rights reserved.

Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan.

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Nishimura, Naoko; Hanaki, Keiichi

2014-11-01

To assess psychosocial profiles of children with achondroplasia using a nationwide survey. Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects. It is, however, still controversial whether the condition is associated with psychological problems, especially in childhood. A cross-sectional descriptive design was employed. To evaluate psychosocial profiles and adaptation processes in children with achondroplasia, we developed an inventory of scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains. Participants were recruited nationwide through the largest advocacy support group for achondroplasia in Japan. Of the 130 group members, 73 X-ray-diagnosed patients, aged 8-18 years, completed the inventory of questionnaires to be analysed. As for the stressor domain, patients experienced short stature-related unpleasant experiences more frequently (z-score: +1·3 in average, +3·9 in physical inconvenience). Nevertheless, these experiences had little effect on the coping process (threat appraisal: -0·2, control appraisal: +0·1) and the adaptation outcome (stress response: +0·3, self-concept: 0·0). Interestingly, self-efficacy in the coping resource domain was noticeably increased (+3·1) and was strongly correlated with most variables in the coping process and in adaptation outcome domains. Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation. This finding suggests that coping process as well as coping resources such as self-efficacy could be important targets for promoting psychological adjustment in children with achondroplasia. To help children with achondroplasia adapt socially, nurses and other healthcare providers should routinely assess their psychological adaptation

Estimation of stature from facial parameters in adult Abakaliki people ...

African Journals Online (AJOL)

This study is carried out in order to estimate the height of adult Igbo people of Abakaliki ethnic group in South-Eastern Nigeria from their facial Morphology. The parameters studied include Facial Length, Bizygomatic Diameter, Bigonial Diameter, Nasal Length, and Nasal Breadth. A total of 1000 subjects comprising 669 ...

The clinical study on the relationship between growth hormone secretion and pituitary magnetic resonance imaging findings in children with short stature

International Nuclear Information System (INIS)

Masuda, Ryuji

1996-01-01

The relationship between pituitary size evaluated by magnetic resonance imaging (MRI) and pituitary function was studied in 104 boys and 81 girls with short stature. Eighteen boys and 10 girls had normal secretion of growth hormone (GH) based on growth hormone provocative tests. Their height and volume of pituitary gland with normal anatomy were significantly correlated with their age. The pituitary height of girls was higher than that of boys. Sixty boys and 29 girls had growth hormone deficiency (GHD), and 3 boys of them had multiple pituitary deficiencies (MPHD) with pituitary interruption syndrome (transected pituitary stalk, severe small anterior lobe, ectopic posterior lobe). Pituitary height of the groups with GHD were almost less than normal groups. Thirteen girls with Turner syndrome out of 81 girls with short stature showed no difference in pituitary height compared to normal girls. (author)

Clinical application of automated Greulich-Pyle bone age determination in children with short stature

International Nuclear Information System (INIS)

Martin, David D.; Deusch, Dorothee; Schweizer, Roland; Binder, Gerhard; Ranke, Michael B.; Thodberg, Hans Henrik

2009-01-01

Bone age (BA) rating is time consuming and highly rater dependent. To adjust the fully automated BoneXpert method to agree with the manual Greulich and Pyle BA (GP BA) ratings of five raters and to validate the accuracy for short children. A total of 1,097 left hand radiographs from 188 children with short stature, including growth hormone deficiency (44%) and Turner syndrome (29%) were evaluated. BoneXpert rejected 14 of the 1,097 radiographs, and deviated by more than 1.9 years from the operator BA for 27 radiographs. These were rerated blindly by four operators. Of the 27 new ratings, 26 were within 1.9 years of the automatic BA values. The root mean square deviation between manual and automatic rating was 0.72 years (95% CI 0.69-0.75). BoneXpert's ability to process 99% of images automatically without errors, and to obtain good agreement with an operator suggests that the method is efficient and reliable for short children. (orig.)

Clinical application of automated Greulich-Pyle bone age determination in children with short stature

Energy Technology Data Exchange (ETDEWEB)

Martin, David D.; Deusch, Dorothee; Schweizer, Roland; Binder, Gerhard; Ranke, Michael B. [University Children' s Hospital, Paediatric Endocrinology Section, Tuebingen (Germany); Thodberg, Hans Henrik [Visiana, Holte (Denmark)

2009-06-15

Bone age (BA) rating is time consuming and highly rater dependent. To adjust the fully automated BoneXpert method to agree with the manual Greulich and Pyle BA (GP BA) ratings of five raters and to validate the accuracy for short children. A total of 1,097 left hand radiographs from 188 children with short stature, including growth hormone deficiency (44%) and Turner syndrome (29%) were evaluated. BoneXpert rejected 14 of the 1,097 radiographs, and deviated by more than 1.9 years from the operator BA for 27 radiographs. These were rerated blindly by four operators. Of the 27 new ratings, 26 were within 1.9 years of the automatic BA values. The root mean square deviation between manual and automatic rating was 0.72 years (95% CI 0.69-0.75). BoneXpert's ability to process 99% of images automatically without errors, and to obtain good agreement with an operator suggests that the method is efficient and reliable for short children. (orig.)

Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup.

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Matsumoto, Masaaki; Awano, Hiroyuki; Lee, Tomoko; Takeshima, Yasuhiro; Matsuo, Masafumi; Iijima, Kazumoto

2017-11-01

Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS). The mean height SDS of DMD was -1.08 SD that was significantly smaller than normal (p < 0.001), indicating short stature of Japanese DMD. Furthermore, the mean height SDS of BMD was -0.27 SD, suggesting shorter stature than normal. Remarkably, the mean height SDS of DMD was significantly smaller than that of BMD (p < 0.0001). In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). These suggested that height is influenced by dystrophin in not only DMD but also BMD and that dystrophin Dp71 has a role in height regulation. Copyright © 2017 Elsevier B.V. All rights reserved.

Short Stature in Chronic Kidney Disease Treated with Growth Hormone and an Aromatase Inhibitor

Directory of Open Access Journals (Sweden)

Susan R. Mendley

2015-01-01

Full Text Available We describe an alternative strategy for management of severe growth failure in a 14-year-old child who presented with advanced chronic kidney disease close to puberty. The patient was initially treated with growth hormone for a year until kidney transplantation, followed immediately by a year-long course of an aromatase inhibitor, anastrozole, to prevent epiphyseal fusion and prolong the period of linear growth. Outcome was excellent, with successful transplant and anticipated complete correction of height deficit. This strategy may be appropriate for children with chronic kidney disease and short stature who are in puberty.

Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency.

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Austin, Devon E; Gunn, Alistair J; Jefferies, Craig A

2015-02-01

Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50 000 births, with marked pre- and postnatal growth failure. WHS results from the hemizygous deletion encompassing the 4p16.3 region. This report of two children with WHS shows that growth hormone treatment in selected children with WHS and severe short stature may have a substantial effect on long-term growth.

Short-term effect of superficial heat treatment on paraspinal muscle activity, stature recovery, and psychological factors in patients with chronic low back pain.

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Lewis, Sandra E; Holmes, Paul S; Woby, Steve R; Hindle, Jackie; Fowler, Neil E

2012-02-01

To test the hypothesis that patients with chronic low back pain (CLBP) would have reduced paraspinal muscle activity when wearing a heat wrap and that this would be associated with increased stature recovery and short-term improvements in psychological factors. A within-subject repeated-measures design. Muscle activity and stature recovery were assessed before and after a 40-minute unloading period, both without a heat wrap and after 2 hours of wear. Questionnaires were completed after both sessions. Hospital physiotherapy department. Patients with CLBP (n=24; age, 48.0±9.0 y; height, 166.6±7.3 cm; body mass, 80.2±12.9 kg) and asymptomatic participants (n=11; age, 47.9±15.4 y; height, 168.7±11.6 cm; body mass, 69.3±13.1 kg) took part in the investigation. Patients on the waiting list for 2 physiotherapist-led rehabilitation programs, and those who had attended the programs during the previous 2 years, were invited to participate. Superficial heat wrap. Paraspinal muscle activity, stature recovery over a 40-minute unloading period, pain, disability, and psychological factors. For the CLBP patients only, the heat wrap was associated with a reduction in nonnormalized muscle activity and a positive short-term effect on self-report of disability, pain-related anxiety, catastrophizing, and self-efficacy. Changes in muscle activity were correlated with changes in stature recovery, and both were also correlated to changes in psychological factors. Use of the heat wrap was associated with a decrease in muscle activity and a short-term improvement in certain aspects of well-being for the CLBP patients. The results confirm the link between the biomechanical and psychological outcome measures. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

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Benito-Sanz, S; Barroso, E; Heine-Suñer, D; Hisado-Oliva, A; Romanelli, V; Rosell, J; Aragones, A; Caimari, M; Argente, J; Ross, J L; Zinn, A R; Gracia, R; Lapunzina, P; Campos-Barros, A; Heath, K E

2011-02-01

Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal region 1 deletions encompassing SHOX or its enhancers have been identified in approximately 60% of LWD and approximately 15% of idiopathic short stature (ISS) individuals. Recently SHOX duplications have been described in LWD/ISS but also in individuals with other clinical manifestations, thus questioning their pathogenicity. The objective of the study was to investigate the pathogenicity of SHOX duplications in LWD and ISS. Multiplex ligation-dependent probe amplification is routinely used in our unit to analyze for SHOX/pseudoautosomal region 1 copy number changes in LWD/ISS referrals. Quantitative PCR, microsatellite marker, and fluorescence in situ hybridization analysis were undertaken to confirm all identified duplications. During the routine analysis of 122 LWD and 613 ISS referrals, a total of four complete and 10 partial SHOX duplications or multiple copy number (n > 3) as well as one duplication of the SHOX 5' flanking region were identified in nine LWD and six ISS cases. Partial SHOX duplications appeared to have a more deleterious effect on skeletal dysplasia and height gain than complete SHOX duplications. Importantly, no increase in SHOX copy number was identified in 340 individuals with normal stature or 104 overgrowth referrals. MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.

The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels.

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Şıklar, Zeynep; Kocaay, Pınar; Çamtosun, Emine; İsakoca, Mehmet; Hacıhamdioğlu, Bülent; Savaş Erdeve, Şenay; Berberoğlu, Merih

2015-12-01

Idiopathic short stature (ISS) constitutes a heterogeneous group of short stature which is not associated with an endocrine or other identifiable cause. Some ISS patients may have varying degrees of insulin-like growth factor-1 (IGF-1) deficiency. Recombinant growth hormone (rGH) treatment has been used by some authors with variable results. Reports on long-term rGH treatment are limited. In this study, 21 slowly growing, non-GH-deficient ISS children who received rGH treatment for 3.62±0.92 years were evaluated at the end of a 5.42±1.67-year follow-up period. The study group included patients with low IGF-1 levels who also responded well to an IGF generation test. The patients were divided into two groups as good responders [height increment >1 standard deviation (SD)] and poor responders (height increment deficit and almost 40% of patients may reach their target height.

Genetics Home Reference: Nicolaides-Baraitser syndrome

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... common are sparse scalp hair, small head size ( microcephaly ), distinct facial features, short stature, prominent finger joints, ... individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow. The ...

Polymorphisms of the ghrelin/obestatin gene and ghrelin levels in Chinese children with short stature.

Science.gov (United States)

Zou, Chao Chun; Huang, Ke; Liang, Li; Zhao, Zheng Yan

2008-07-01

To investigate the role of ghrelin and polymorphisms of ghrelin/obestatin gene in children with short stature. A total of 117 GH deficient (GHD) and 81 idiopathic short stature (ISS) children were studied. The controls consisted of 125 age and gender-matched healthy children. The Arg51Gln, Leu72Met and Gln90Leu polymorphisms were genotyped using MassArray and total plasma ghrelin was measured by radioimmunoassay. In this study, the frequency of the Arg51Gln polymorphism was very low (0% in controls and 1.0% in patients). The frequency of the Gln90Leu polymorphism was 1.6% in controls and 0.5% in patients, respectively. Higher frequencies of Leu72Met (34.4% in controls and 39.9% in patients) and Met72Met genotypes (4.0% in controls and 2.0% in patients) were found. The differences in the Arg51Gln, Leu72Met or Gln90Leu genotypes and allele frequencies between patients and controls were not significant. Also, there were no significant differences in the Leu72Met genotypes and allele frequencies between GHD and ISS subgroups. There were no significant differences in clinical characteristics and biochemistry markers (including ghrelin levels) among the different genotypes of Leu72Met. However, plasma ghrelin levels in the GHD group were significantly lower than those of controls (P = 0.001). These results suggest that ghrelin may have a role in GH secretion and controlling growth. Lower ghrelin levels, but not ghrelin/obestatin polymorphism, might contribute to GHD.

Masseteric nerve for reanimation of the smile in short-term facial paralysis.

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Hontanilla, Bernardo; Marre, Diego; Cabello, Alvaro

2014-02-01

Our aim was to describe our experience with the masseteric nerve in the reanimation of short term facial paralysis. We present our outcomes using a quantitative measurement system and discuss its advantages and disadvantages. Between 2000 and 2012, 23 patients had their facial paralysis reanimated by masseteric-facial coaptation. All patients are presented with complete unilateral paralysis. Their background, the aetiology of the paralysis, and the surgical details were recorded. A retrospective study of movement analysis was made using an automatic optical system (Facial Clima). Commissural excursion and commissural contraction velocity were also recorded. The mean age at reanimation was 43(8) years. The aetiology of the facial paralysis included acoustic neurinoma, fracture of the skull base, schwannoma of the facial nerve, resection of a cholesteatoma, and varicella zoster infection. The mean time duration of facial paralysis was 16(5) months. Follow-up was more than 2 years in all patients except 1 in whom it was 12 months. The mean duration to recovery of tone (as reported by the patient) was 67(11) days. Postoperative commissural excursion was 8(4)mm for the reanimated side and 8(3)mm for the healthy side (p=0.4). Likewise, commissural contraction velocity was 38(10)mm/s for the reanimated side and 43(12)mm/s for the healthy side (p=0.23). Mean percentage of recovery was 92(5)mm for commissural excursion and 79(15)mm/s for commissural contraction velocity. Masseteric nerve transposition is a reliable and reproducible option for the reanimation of short term facial paralysis with reduced donor site morbidity and good symmetry with the opposite healthy side. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

Rathke's cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty.

Science.gov (United States)

Dutta, Deep; Roy, Ajitesh; Ghosh, Sujoy; Mukhopadhyay, Pradip; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

2012-12-01

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke's cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Comparison of hemihypoglossal nerve versus masseteric nerve transpositions in the rehabilitation of short-term facial paralysis using the Facial Clima evaluating system.

Science.gov (United States)

Hontanilla, Bernardo; Marré, Diego

2012-11-01

Masseteric and hypoglossal nerve transfers are reliable alternatives for reanimating short-term facial paralysis. To date, few studies exist in the literature comparing these techniques. This work presents a quantitative comparison of masseter-facial transposition versus hemihypoglossal facial transposition with a nerve graft using the Facial Clima system. Forty-six patients with complete unilateral facial paralysis underwent reanimation with either hemihypoglossal transposition with a nerve graft (group I, n = 25) or direct masseteric-facial coaptation (group II, n = 21). Commissural displacement and commissural contraction velocity were measured using the Facial Clima system. Postoperative intragroup commissural displacement and commissural contraction velocity means of the reanimated versus the normal side were first compared using a paired sample t test. Then, mean percentages of recovery of both parameters were compared between the groups using an independent sample t test. Onset of movement was also compared between the groups. Significant differences of mean commissural displacement and commissural contraction velocity between the reanimated side and the normal side were observed in group I but not in group II. Mean percentage of recovery of both parameters did not differ between the groups. Patients in group II showed a significantly faster onset of movement compared with those in group I (62 ± 4.6 days versus 136 ± 7.4 days, p = 0.013). Reanimation of short-term facial paralysis can be satisfactorily addressed by means of either hemihypoglossal transposition with a nerve graft or direct masseteric-facial coaptation. However, with the latter, better symmetry and a faster onset of movement are observed. In addition, masseteric nerve transfer avoids morbidity from nerve graft harvesting. Therapeutic, III.

Evaluation of short stature mutants of Basmati-370 for yield and grain quality characteristics

International Nuclear Information System (INIS)

Awan, M.A.; Ahmad, M.; Cheema, A.A.

1982-01-01

Three short stature mutants were induced in an indica rice cultivar by gamma irradiation. The mutants were assessed for their yielding ability and grain quality characteristics. All the mutants out yielded the parent variety, Basmati-370. The increase in yield of the mutants ranged from 19.37% to 29.66%. DM-2 gave the highest yield (3587.96 kg/ha) among the mutants. As regards physical, cooking and eating quality characteristics, there was no significant difference in water absorption, volume expansion ratios and stickiness among the mutants and Basmati-370. However, Basmati-370 was scored best for flavour as this variety had strong aroma as compared to its mutants which were scored for moderately strong aroma. (authors)

Radiologic anthropometry of the hand in patients with familial short stature

International Nuclear Information System (INIS)

Cervantes, C.D.; Lifshitz, F.; Levenbrown, J.; North Shore Univ. Hospital, Manhasset, NY; Cornell Univ., New York

1988-01-01

Fifth metacarpal bone shortening (brachymetacarpia V) was recently described to be highly prevalent in children with familial short stature (FSS). To characterize the hand bones of FSS patients with and without brachymetacarpia V, the left hand bone age radiographs of 26 FSS children were reviewed. In 16/19 patients with clinical brachymetacarpia V radiographs revealed fifth metacarpal bone shortening with a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpal bones. Only one of 7 patients without clinical brachymetacarpia V had a gap of 2 mm. Radiologic anthropometry revealed that FSS patients with clinically shortened fifth metacarpal bone frequently had shortened first metacarpal bones, second and third proximal phalanges, and fifth distal phalanx as well. FSS patients without clinical fifth metacarpal bone shortening had shortened 3rd and 4th metacarpal bones, fifth proximal phalanx, and fifth distal phalanx. Fifth metacarpal bone shortening was only detected clinically if the fourth metacarpal bone was not short as well. Reduction in height correlated more with reduction in metacarpal bone length than with that of the other hand bones. These peculiar tubular bone alterations commonly seen in FSS suggest a disturbance in endochondral ossification, the process primarily involved in tubular bone elongation. (orig.)

Spinal anesthesia using Taylor′s approach helps avoid general anesthesia in short stature asthmatic patient

Directory of Open Access Journals (Sweden)

Amarjeet Dnyandeo Patil

2015-01-01

Full Text Available The case history of a 35-year-old female patient with short stature is presented. She was posted for rectopexy in view of rectal prolapse. She was a known case of bronchial asthma. She had crowding of intervertebral spaces, which made administration of spinal anesthesia via the normal route very difficult. Taylor′s approach for administration of the same was tried and proved successful, thus saving the patient from receiving general anesthesia in the presence of bronchial asthma, for a perineal surgery. The possible cause for the difficulty in administration of spinal anesthesia and the Taylor′s approach are discussed, and reports of similar cases reviewed.

Alström syndrome is associated with short stature and reduced GH reserve.

Science.gov (United States)

Romano, S; Maffei, P; Bettini, V; Milan, G; Favaretto, F; Gardiman, M; Marshall, J D; Greggio, N A; Pozzan, G B; Collin, G B; Naggert, J K; Bronson, R; Vettor, R

2013-10-01

Alström syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called 'ciliopathies' and is likely to impact the central nervous system as well as metabolic and endocrine function. Individuals with ALMS present clinical features resembling a growth hormone deficiency (GHD) condition, but thus far no study has specifically investigated this aspect in a large population. Twenty-three patients with ALMS (age, 1-52 years; 11 males, 12 females) were evaluated for anthropometric parameters (growth charts and standard deviation score (SDS) of height, weight, BMI), GH secretion by growth hormone-releasing hormone + arginine test (GHRH-arg), bone age, and hypothalamic-pituitary magnetic resonance imaging (MRI). A group of 17 healthy subjects served as controls in the GH secretion study. Longitudinal retrospective and prospective data were utilized. The length-for-age measurements from birth to 36 months showed normal growth with most values falling within -0·67 SDS to +1·28 SDS. A progressive decrease in stature-for-age was observed after 10 years of age, with a low final height in almost all ALMS subjects (>16-20 years; mean SDS, -2·22 ± 1·16). The subset of 12 patients with ALMS tested for GHRH-arg showed a significantly shorter stature than age-matched controls (154·7 ± 10·6 cm vs 162·9 ± 4·8 cm, P = 0·009) and a mild increase in BMI (Kg/m(2) ) (27·8 ± 4·8 vs 24·1 ± 2·5, P = 0·007). Peak GH after GHRH-arg was significantly lower in patients with ALMS in comparison with controls (11·9 ± 6·9 μg/l vs 86·1 ± 33·2 μg/l, P short stature reported in ALMS may be at least partially influenced by impairment of GH secretion. © 2013 John Wiley & Sons Ltd.

Height-reducing variants and selection for short stature in Sardinia

NARCIS (Netherlands)

Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Ortega Del Vecchyo, Diego; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Gonçalo R; Novembre, John; Schlessinger, David; Cucca, Francesco

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent

Rathke′s cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty

Directory of Open Access Journals (Sweden)

Deep Dutta

2012-01-01

Full Text Available Ectopic neurohypophysis (EN is found in nearly half of children with growth hormone deficiency (GHD. Rathke′s cyst (RC is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?

Science.gov (United States)

Ben-Ari, Tal; Lebenthal, Yael; Phillip, Moshe; Lazar, Liora

2015-01-01

Growth hormone (GH) registries indicate that boys receive preferential GH treatment for idiopathic short stature (ISS). The aim was to determine whether age, auxological parameters, pubertal status, and target height differ between genders at GH initiation. Review of the computerized files of the endocrine department of a tertiary pediatric medical center identified 184 patients who started GH therapy for ISS between 2003-2011. Data on auxologic parameters, predicted height, parental height, and pubertal status were collected and compared between boys and girls. Boys accounted for a significantly higher percentage of the study group (65.8%, pdeficit, and pubertal status at onset of GH treatment in boys and girls suggests that gender differences do not exist. Male predominance may stem from family preferences to treat boys. Future studies are warranted to assess the psychosocial aspects in the decision to initiate therapy.

Parental perception of health-related quality of life in children and adolescents with short stature: literature review and introduction of the parent-reported QoLISSY instrument.

Science.gov (United States)

Quitmann, Julia; Rohenkohl, Anja; Bullinger, Monika; Chaplin, John E; Herdman, Michael; Sanz, Dolores; Mimoun, Emmanuelle; Feigerlova, Eva; DeBusk, Kendra; Power, Michael; Wollmann, Hartmut; Pleil, Andreas

2013-12-01

Health-related quality of life (HrQoL) of the child diagnosed with short stature is an important outcome to be assessed both from the patient as well as from the parental perspective. The objective of this study was to review the literature on parent-reported HrQoL and to subsequently develop and psychometrically test the parent-reported version of the Quality of Life in Short Stature Youth (QoLISSY) instrument for use in clinical and epidemiologic research. A review of the literature on parental assessment of child HrQoL via PUBMED was followed by a psychometric analysis of data collected within the European QoLISSY study, in which 686 eligible parents of short statured children/adolescents (aged 4-18 years) meeting inclusion criteria participated. Patient inclusion criteria were a height below -2 SD, a diagnosis of growth hormone deficiency (GHD) or idiopathic short stature (ISS), and treatment status in terms of receiving or not receiving recombinant human growth hormone therapy. Focus groups eliciting parental HrQoL statements, pilot testing with cognitive debriefing, and a field test in 317 parents with a retest in 148 parents were conducted simultaneously in France, Germany, Spain, Sweden and the UK. The psychometric performance of the parent-reported instrument, developed in parallel to the child/ adolescent self-report version, was assessed using standard tests of reliability and validity. Literature search failed to identify a cross-culturally developed height specific instrument available for both patient self-report and parental observer report. Analysis of the QoLISSY focus group phase conducted separately in children, adolescents and parents yielded 169 items generated from parent focus groups. A cognitive debriefing exercise followed by a pilot test of preliminary psychometric characteristics resulted in deleting poorly performing items. Field testing of the parent-reported version suggested a three-domain core HrQoL structure with 22 items

Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature.

Science.gov (United States)

Birkebaek, Niels Holtum; Patel, Leena; Wright, Neville Bryce; Grigg, John Russell; Sinha, Smeeta; Hall, Catherine Margaret; Price, David Anthony; Lloyd, Ian Christopher; Clayton, Peter Ellis

2004-10-01

To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans. Intracranial ON sizes from MRI were compared between 46 children with ONH diagnosed by ophthalmoscopy (group 1, isolated ONH, 8 children; and group 2, ONH associated with abnormalities of the hypothalamic-pituitary axis and septum pellucidum, 38 children) and children with multiple pituitary hormone deficiency (group 3, multiple pituitary hormone deficiency, 14 children), isolated growth hormone deficiency (group 4, isolated growth hormone deficiency, 15 children), and idiopathic short stature (group 5, idiopathic short stature, 10 children). Intracranial ON size was determined by the cross-sectional area, calculated as [pi x (1/2) height x (1/2) width]. Groups 1 and 2 had lower intracranial ON size than did groups 3, 4, and 5 (P imaging of the ONs with cross-sectional area short child more than 12 months of age, with or without hypothalamic-pituitary axis abnormalities, confirms the clinical diagnosis of ONH.

Cross-cultural equivalence of the patient- and parent-reported quality of life in short stature youth (QoLISSY) questionnaire.

Science.gov (United States)

Bullinger, Monika; Quitmann, Julia; Silva, Neuza; Rohenkohl, Anja; Chaplin, John E; DeBusk, Kendra; Mimoun, Emmanuelle; Feigerlova, Eva; Herdman, Michael; Sanz, Dolores; Wollmann, Hartmut; Pleil, Andreas; Power, Michael

2014-01-01

Testing cross-cultural equivalence of patient-reported outcomes requires sufficiently large samples per country, which is difficult to achieve in rare endocrine paediatric conditions. We describe a novel approach to cross-cultural testing of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in five countries by sequentially taking one country out (TOCO) from the total sample and iteratively comparing the resulting psychometric performance. Development of the QoLISSY proceeded from focus group discussions through pilot testing to field testing in 268 short-statured patients and their parents. To explore cross-cultural equivalence, the iterative TOCO technique was used to examine and compare the validity, reliability, and convergence of patient and parent responses on QoLISSY in the field test dataset, and to predict QoLISSY scores from clinical, socio-demographic and psychosocial variables. Validity and reliability indicators were satisfactory for each sample after iteratively omitting one country. Comparisons with the total sample revealed cross-cultural equivalence in internal consistency and construct validity for patients and parents, high inter-rater agreement and a substantial proportion of QoLISSY variance explained by predictors. The TOCO technique is a powerful method to overcome problems of country-specific testing of patient-reported outcome instruments. It provides an empirical support to QoLISSY's cross-cultural equivalence and is recommended for future research.

[Unconsciousness due to hyponatremia in a patient with short stature with panhypopituitarism].

Science.gov (United States)

Notsu, K; Takagi, C; Umaki, I

1995-03-20

An unconscious woman of short stature (141 cm) was admitted to our hospital in March, 1994. She had hyponatremia (120 mEq/l) and had experienced massive bleeding during delivery. No increment of either plasma ACTH or cortisol levels was observed after insulin-induced hypoglycemia. However, urinary 17OHCS levels gradually increased after repeated intramuscular injections of ACTH. Plasma free T3 and free T4 levels were low. Neither plasma TSH nor prolactin (PRL) levels increased after an intravenous injection of TRH. Basal plasma LH, FSH and growth hormone (GH) levels were low and there were no observable responses to any of the stimulation tests. A magnetic resonance image (MRI) of her pituitary gland showed an empty sella. These results showed that she had a panhypopituitarism with primary empty sella. Replacement therapy with glucocorticoid was started and serum sodium levels normalized immediately. Levothyroxine was also administered. The possibility of pituitary dwarfism during her youth and a gradual postpartum reduction of other pituitary hormones may have caused an impairment of the hypothalamo-pituitary-adrenal axis.

Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls.

Science.gov (United States)

Kessler, Marion; Tenner, Michael; Frey, Michael; Noto, Richard

2016-10-01

The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls. Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included. Three-dimensional (3D) magnetic resonance images with contrast were obtained to accurately measure PV. There was a significant difference in the mean PV among the three groups. The IGHD patients had a mean PV 230.8 (±89.6), for ISS patients it was 286.8 (±108.2) and for controls it was 343.7 (±145.9) (pimaging (MRI) could assist in the diagnostic evaluation of the slowly growing child.

Influence of gestational weight gain on low birth weight in short-statured South Indian pregnant women.

Science.gov (United States)

Shivakumar, Nirupama; Dwarkanath, Pratibha; Bosch, Ronald; Duggan, Christopher; Kurpad, Anura V; Thomas, Tinku

2018-05-01

India contributes to one-third of the global burden of low birth weight (LBW) neonates, which is associated with increased risk of mortality and adverse consequences on long-term health. Factors leading to LBW are multidimensional and maternal short stature is an important component with an inter-generational effect. On the contrary gestational weight gain (GWG) shows an independent positive influence on birth weight. The aim of the present study therefore was to determine the influence of GWG on birth weight in short pregnant women. A prospective observational cohort of 1254 pregnant women was studied. Total, second and third trimester GWG per week were computed. Women were divided into two groups, "short" and "not-short", using a cut off of 152 cm that corresponded to the 25th percentile for height in the cohort. Association of tertiles of GWG with LBW was examined using log binomial regression analysis. "Short" women in highest tertile of total GWG had a significantly reduced adjusted relative risk (ARR 0.37, 95% confidence interval 0.16-0.83, P = 0.016) for LBW, compared to the lowest tertile. However, there was no significant increase in risk for cesarean section (CS) with increasing tertiles of total GWG. In women with height women may be beneficial for the birth weight of the offspring.

Short Maternal Stature Increases Risk of Small-for-Gestational-Age and Preterm Births in Low- and Middle-Income Countries: Individual Participant Data Meta-Analysis and Population Attributable Fraction.

Science.gov (United States)

Kozuki, Naoko; Katz, Joanne; Lee, Anne C C; Vogel, Joshua P; Silveira, Mariangela F; Sania, Ayesha; Stevens, Gretchen A; Cousens, Simon; Caulfield, Laura E; Christian, Parul; Huybregts, Lieven; Roberfroid, Dominique; Schmiegelow, Christentze; Adair, Linda S; Barros, Fernando C; Cowan, Melanie; Fawzi, Wafaie; Kolsteren, Patrick; Merialdi, Mario; Mongkolchati, Aroonsri; Saville, Naomi; Victora, Cesar G; Bhutta, Zulfiqar A; Blencowe, Hannah; Ezzati, Majid; Lawn, Joy E; Black, Robert E

2015-11-01

Small-for-gestational-age (SGA) and preterm births are associated with adverse health consequences, including neonatal and infant mortality, childhood undernutrition, and adulthood chronic disease. The specific aims of this study were to estimate the association between short maternal stature and outcomes of SGA alone, preterm birth alone, or both, and to calculate the population attributable fraction of SGA and preterm birth associated with short maternal stature. We conducted an individual participant data meta-analysis with the use of data sets from 12 population-based cohort studies and the WHO Global Survey on Maternal and Perinatal Health (13 of 24 available data sets used) from low- and middle-income countries (LMIC). We included those with weight taken within 72 h of birth, gestational age, and maternal height data (n = 177,000). For each of these studies, we individually calculated RRs between height exposure categories of < 145 cm, 145 to < 150 cm, and 150 to < 155 cm (reference: ≥ 155 cm) and outcomes of SGA, preterm birth, and their combination categories. SGA was defined with the use of both the International Fetal and Newborn Growth Consortium for the 21st Century (INTERGROWTH-21st) birth weight standard and the 1991 US birth weight reference. The associations were then meta-analyzed. All short stature categories were statistically significantly associated with term SGA, preterm appropriate-for-gestational-age (AGA), and preterm SGA births (reference: term AGA). When using the INTERGROWTH-21st standard to define SGA, women < 145 cm had the highest adjusted risk ratios (aRRs) (term SGA-aRR: 2.03; 95% CI: 1.76, 2.35; preterm AGA-aRR: 1.45; 95% CI: 1.26, 1.66; preterm SGA-aRR: 2.13; 95% CI: 1.42, 3.21). Similar associations were seen for SGA defined by the US reference. Annually, 5.5 million term SGA (18.6% of the global total), 550,800 preterm AGA (5.0% of the global total), and 458,000 preterm SGA (16.5% of the global total) births may be associated

Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

Directory of Open Access Journals (Sweden)

Mohammad Khursheed Alam

Full Text Available This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian, with the mean age of 21.54 ± 1.56 (Age range, 18-25. Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI, Malaysian Chinese (MC and Malaysian Malay (MM were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05 but no significant difference was found between races. Out of the 286 subjects, 49 (17.1% were of ideal facial shape, 156 (54.5% short and 81 (28.3% long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts.1 Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%; 2 Facial index did not depend significantly on races; 3 Significant sexual dimorphism was shown among Malaysian Chinese; 4 All three races are generally satisfied with their own facial appearance; 5 No significant association was found between golden ratio and facial evaluation score among Malaysian population.

Autologous fat graft as treatment of post short stature surgical correction scars.

Science.gov (United States)

Maione, Luca; Memeo, Antonio; Pedretti, Leopoldo; Verdoni, Fabio; Lisa, Andrea; Bandi, Valeria; Giannasi, Silvia; Vinci, Valeriano; Mambretti, Andrea; Klinger, Marco

2014-12-01

Surgical limb lengthening is undertaken to correct pathological short stature. Among the possible complications related to this procedure, painful and retractile scars are a cause for both functional and cosmetic concern. Our team has already shown the efficacy of autologous fat grafting in the treatment of scars with varying aetiology, so we decided to apply this technique to scars related to surgical correction of dwarfism. A prospective study was conducted to evaluate the efficacy of autologous fat grafting in the treatment of post-surgical scars in patients with short-limb dwarfism using durometer measurements and a modified patient and observer scar assessment scale (POSAS), to which was added a parameter to evaluate movement impairment. Between January 2009 and September 2012, 36 children (28 female and 8 male) who presented retractile and painful post-surgical scars came to our unit and were treated with autologous fat grafting. Preoperative and postoperative mean durometer measurements were analysed using the analysis of variance (ANOVA) test and POSAS parameters were studied using the Wilcoxon rank sum test. There was a statistically significant reduction in all durometer measurements (p-value treatment with autologous fat grafting. Surgical procedures to camouflage scars on lower limbs are not often used as a first approach and non-surgical treatments often lead to unsatisfactory results. In contrast, our autologous fat grafting technique in the treatment of post-surgical scars has been shown to be a valuable option in patients with short-limb dwarfism. There was a reduction of skin hardness and a clinical improvement of all POSAS parameters in all patients treated. Moreover, the newly introduced POSAS parameter appears to be reliable and we recommend that it is included to give a more complete evaluation of patient perception. Copyright © 2014 Elsevier Ltd. All rights reserved.

Facial soft tissue analysis among various vertical facial patterns

International Nuclear Information System (INIS)

Jeelani, W.; Fida, M.; Shaikh, A.

2016-01-01

Background: The emergence of soft tissue paradigm in orthodontics has made various soft tissue parameters an integral part of the orthodontic problem list. The purpose of this study was to determine and compare various facial soft tissue parameters on lateral cephalograms among patients with short, average and long facial patterns. Methods: A cross-sectional study was conducted on the lateral cephalograms of 180 adult subjects divided into three equal groups, i.e., short, average and long face according to the vertical facial pattern. Incisal display at rest, nose height, upper and lower lip lengths, degree of lip procumbency and the nasolabial angle were measured for each individual. The gender differences for these soft tissue parameters were determined using Mann-Whitney U test while the comparison among different facial patterns was performed using Kruskal-Wallis test. Results: Significant differences in the incisal display at rest, total nasal height, lip procumbency, the nasolabial angle and the upper and lower lip lengths were found among the three vertical facial patterns. A significant positive correlation of nose and lip dimensions was found with the underlying skeletal pattern. Similarly, the incisal display at rest, upper and lower lip procumbency and the nasolabial angle were significantly correlated with the lower anterior facial height. Conclusion: Short facial pattern is associated with minimal incisal display, recumbent upper and lower lips and acute nasolabial angle while the long facial pattern is associated with excessive incisal display, procumbent upper and lower lips and obtuse nasolabial angle. (author)

Evaluation of insulin-like growth factor-1 and insulin like growth factor binding protein-3 in diagnosis of growth hormone deficiency in short-stature children

International Nuclear Information System (INIS)

Ali, A.; Hashim, R.; Khan, F.A.; Sattar, A.; Ijaz, A.; Manzoor, S.M.; Younas, M.

2009-01-01

Growth Hormone Deficiency (GHD) is conventionally diagnosed and confirmed by diminished peak Growth Hormone (GH) levels to provocative testing. Serum Insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) are under the influence of GH and reflect the spontaneous endogenous GH secretion. Owing to the absence of a circadian rhythm, it is possible to take individual measurements of IGF-1 and IGFBP-3 at any time of the day for evaluation of GH status instead of subjecting the individual to cumbersome provocative tests. Objectives of this study were to compare IGF-1 and IGFBP-3 assays with Exercise and L-Dopa stimulation tests in the diagnosis of growth hormone deficiency in short stature children using ITT as gold standard. Methods: This validation study was conducted at Department of Chemical Pathology and Endocrinology, AFIP, Rawalpindi, from November 2005 to October 2006. Fifty-two short stature children were included in the study. Basal samples for GH levels and simultaneous IGF-1 and IGFBP-3 measurements were obtained and afterwards all children were subjected to sequential exercise and LDopa stimulation tests. Insulin Tolerance Test (ITT) was performed one week later with all the necessary precautionary measures. On the basis of ITT results, children were divided into two groups, i.e., 31 growth hormone deficient and 21 Normal Variant Short Stature (NVSS). Results: The diagnostic value of exercise stimulation test remained highest with sensitivity 90.3%, specificity 76.0%, Positive Predictive Value (PPV) 84.84%, Negative Predictive Value (NPV) 84.2% and accuracy 84.6%. The conventional L-Dopa stimulation had sensitivity 96.7%, specificity 38.0%, PPV 69.7%, NPV 88.8 % and accuracy 73.0%. The serum IGF-1 and IGFBP-3 levels were positively correlated with post ITT peak GH levels (r= 0.527, r=0.464 respectively, both p<0.001). The diagnostic value of IGF-1 had sensitivity 83.87%, specificity 76.2%, PPV 83.87%, NPV 76.2% and

Disease: H00900 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac d...der resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due

Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

Science.gov (United States)

Alam, Mohammad Khursheed; Mohd Noor, Nor Farid; Basri, Rehana; Yew, Tan Fo; Wen, Tay Hui

2015-01-01

This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; Pmean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population.

Explaining parent-child (dis)agreement in generic and short stature-specific health-related quality of life reports: do family and social relationships matter?

Science.gov (United States)

Quitmann, Julia; Rohenkohl, Anja; Sommer, Rachel; Bullinger, Monika; Silva, Neuza

2016-10-21

In the context of health-related quality of life (HrQoL) assessment in pediatric short stature, the present study aimed to examine the levels of agreement/disagreement between parents' and children's reports of generic and condition-specific HrQoL, and to identify socio-demographic, clinical and psychosocial variables associated with the extent and direction of parent-child discrepancies. This study was part of the retest phase of the QoLISSY project, which was a multicenter study conducted simultaneously in France, Germany, Spain, Sweden and UK. The sample comprised 137 dyads of children/adolescents between 8 and 18 years of age, diagnosed with growth hormone deficiency (GHD) or idiopathic short stature (ISS), and one of their parents. The participants completed child- and parent-reported questionnaires on generic (KIDSCREEN-10 Index) and condition-specific HrQoL (QoLISSY Core Module). Children/adolescents also reported on social support (Oslo 3-items Social Support Scale) and parents assessed the parent-child relationships (Parental Role subscale of the Social Adjustment Scale) and burden of short stature on parents (QoLISSY- additional module). The parent-child agreement on reported HrQoL was strong (intraclass correlation coefficients between .59 and .80). The rates of parent-child discrepancies were 61.5 % for generic and 35.2 % for condition-specific HrQoL, with the parents being more prone to report lower generic (42.3 %) and condition-specific HrQoL (23.7 %) than their children. The extent of discrepancies was better explained by family and social relationships than by clinical and socio-demographic variables: poorer parent-child relationships and better children's social support were associated with larger discrepancies in generic HrQoL, while more parental burden was associated with larger discrepancies in condition-specific HrQoL reports. Regarding the direction of discrepancies, higher parental burden was significantly associated with parents

Facial cues to perceived height influence leadership choices in simulated war and peace contexts.

Science.gov (United States)

Re, Daniel E; DeBruine, Lisa M; Jones, Benedict C; Perrett, David I

2013-01-31

Body size and other signs of physical prowess are associated with leadership hierarchies in many social species. Here we (1) assess whether facial cues associated with perceived height and masculinity have different effects on leadership judgments in simulated wartime and peacetime contexts and (2) test how facial cues associated with perceived height and masculinity influence dominance perceptions. Results indicate that cues associated with perceived height and masculinity in potential leaders‟ faces are valued more in a wartime (vs. peacetime) context. Furthermore, increasing cues of apparent height and masculinity in faces increased perceived dominance. Together, these findings suggest that facial cues of physical stature contribute to establishing leadership hierarchies in humans.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

Science.gov (United States)

Reish, Orit; Huber, Céline; Altarescu, Gheona; Chapman-Shimshoni, Daphne; Levy-Lahad, Ephrat; Renbaum, Paul; Mashevich, Maya; Munnich, Arnold; Cormier-Daire, Valérie

2010-09-01

Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enhancer deletions was identified 30-250 kb downstream of SHOX. We identified a female patient with marked short stature, mosaic for monosomy X in 31% of her lymphocytes, and findings consistent with LWD. Additional molecular studies demonstrated segregation of 17 polymorphic markers flanking and including the SHOX locus, spanning 328 kb of pseudoautosomal region 1 (PAR1) region. A deletion up to 10 kb residing 197 kb downstream of SHOX gene was detected, which was germinally transmitted from her clinically unaffected father. This was associated with post-zygotic mosaic loss of the normal maternal X-chromosome, evidenced by fluorescent fragment analysis. Since most patients with LMD with deletions downstream of SHOX gene also have SHOX mutations in trans, it may suggest these deletions are associated with a milder phenotype. Further studies are required to elucidate the role of the former region in disease etiology. Mutations should be sought in clinically non-affected family members because of the variable expressivity in hemizygous carriers, and cytogenetic evaluation should be considered to detect possible X-chromosome rearrangements underlying the haploinsufficiency for the PAR1 when deletion is detected by molecular analysis. Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered. Copyright 2010 Wiley-Liss, Inc.

Premature ovarian failure, short stature, and Hashimoto's disease in an 18-year-old adolescent girl with 46, X, i(X)(q10).

Science.gov (United States)

Hu, Xiang; Zhang, Qiao; Gao, Feng; Chen, Lu-Lu

2018-04-22

Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto's disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto's disease and short stature.

ESTIMATION OF STATURE BASED ON FOOT LENGTH

Directory of Open Access Journals (Sweden)

Vidyullatha Shetty

2015-01-01

Full Text Available BACKGROUND : Stature is the height of the person in the upright posture. It is an important measure of physical identity. Estimation of body height from its segments or dismember parts has important considerations for identifications of living or dead human body or remains recovered from disasters or other similar conditions. OBJECTIVE : Stature is an important indicator for identification. There are numerous means to establish stature and their significance lies in the simplicity of measurement, applicability and accuracy in prediction. Our aim of the study was to review the relationship between foot length and body height. METHODS : The present study reviews various prospective studies which were done to estimate the stature. All the measurements were taken by using standard measuring devices and standard anthropometric techniques. RESULTS : This review shows there is a correlation between stature and foot dimensions it is found to be positive and statistically highly significant. Prediction of stature was found to be most accurate by multiple regression analysis. CONCLUSIONS : Stature and gender estimation can be done by using foot measurements and stud y will help in medico - legal cases in establishing identity of an individual and this would be useful for Anatomists and Anthropologists to calculate stature based on foot length

[Facial palsy].

Science.gov (United States)

Cavoy, R

2013-09-01

Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

Three-dimensional magnetic resonance volumetry of the pituitary gland is effective in detecting short stature in children.

Science.gov (United States)

Han, Xue; Xiu, Jianjun; Huang, Zhaoqin; Zhang, Jie; Zhang, Zhonghe; Dong, Yin; Yuan, Xianshun; Liu, Qingwei

2014-08-01

The aim of the present study was to obtain standard reference values for the pituitary gland volumes of healthy children and to analyze the potential diagnostic values of pituitary gland volumetry for growth hormone deficiency (GHD) and idiopathic short stature (ISS). The volume of the pituitary gland was measured using a thin-section three-dimensional (3D) magnetic resonance imaging (MRI) sequence of magnetization-prepared rapid gradient echo imaging with a section thickness of 1 mm. A group of 75 healthy children aged between 1 and 19 years were recruited to obtain normal volumetry values of the pituitary gland. These individuals demonstrated no evidence of abnormalities to the central nervous or endocrine systems prior to the study. An additional group of 55 children with GHD (n=32) or ISS (n=23) aged between 0 and 14 years were included in the measurement of pituitary gland volume and height. The Student's t-test was used to evaluate the repetition test, while Pearson's correlation coefficient and regression analyses were performed to examine the correlations between the volume and height of the pituitary glands. Pituitary gland volume and height demonstrated an increasing trend with age in the healthy children. In addition, the pituitary gland volume exhibited a growth spurt in the early teenage years (10-14 years-old), which was more prominent in females. The growth spurt was not observed for pituitary gland height. When compared with the healthy children, 65.6% of the children with GHD and 34.8% of the children with ISS had smaller pituitary gland volumes. Similarly, 37.5% of the children with GHD and 26.1% of the children with ISS had a smaller pituitary gland height compared with the healthy children. The pituitary gland volume performed significantly better compared with height with regard to the detection rate. Therefore, the results indicated that 3D MRI volumetry was useful for understanding the developmental characteristics of the pituitary gland in

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome

OpenAIRE

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

2014-01-01

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PC...

Is the association between short stature and myocardial infarction explained by childhood exposures--a population-based case referent study (SHEEP)

DEFF Research Database (Denmark)

Lundberg, Michael; Diderichsen, Finn; Hallqvist, Johan

2002-01-01

AIMS: This study was undertaken to examine the association between short stature and acute non-fatal myocardial infarction and to analyse causal mechanisms related to height with a focus on childhood risk factors. METHOD: The SHEEP (Stockholm Heart Epidemiology Program) is a population-based case......-referent study. The outcome was incident first events of myocardial infarction. The study base included all Swedish citizens aged 45 to 70, who lived in Stockholm County during 1992-94. This analysis is based on 967 male cases, 412 female cases and 1696 referents. Exposure information was obtained through...... questionnaires, interviews, health examinations, and obstetric records. RESULTS: Adult height was inversely related to myocardial infarction. The odds ratio for men in the shortest quartile (

Estimation of Stature from Foot Dimensions and Stature among South Indian Medical Students Using Regression Models

Directory of Open Access Journals (Sweden)

Rajesh D. R

2015-01-01

Full Text Available Background: At times fragments of soft tissues are found disposed off in the open, in ditches at the crime scene and the same are brought to forensic experts for the purpose of identification and such type of cases pose a real challenge. Objectives: This study was aimed at developing a methodology which could help in personal identification by studying the relation between foot dimensions and stature among south subjects using regression models. Material and Methods: Stature and foot length of 100 subjects (age range 18-22 years were measured. Linear regression equations for stature estimation were calculated. Result: The correlation coefficients between stature and foot lengths were found to be positive and statistically significant. Height = 98.159 + 3.746 × FLRT (r = 0.821 and Height = 91.242 + 3.284 × FLRT (r = 0.837 are the regression formulas from foot lengths for males and females respectively. Conclusion: The regression equation derived in the study can be used reliably for estimation of stature in a diverse population group thus would be of immense value in the field of personal identification especially from mutilated bodies or fragmentary remains.

[Living with achondroplasia- how do young persons with disproportional short stature rate their quality of life and which factors are associated with quality of life?].

Science.gov (United States)

Rohenkohl, Anja C; Sommer, Rachel; Bestges, Stephanie; Kahrs, Sabine; Klingebiel, Karl-Heinz; Bullinger, Monika; Quitmann, Julia

2015-11-01

Presently, little is known aqout the quality of life (QoL) as well as the strengths and difficulties of young people with achondroplasia. This study describes these patient-reported indicators and identifies possible correlates. At the invitation of a patient organization, a total of 89 short-statured patients aged 8 to 28 years and their parents participated in this study. QoL was assessed cross-sectionally with both generic and disease-specific instruments and the Strengths and Difficulties Questionnaire (SDQ) as a brief behavioral screening. In addition to descriptive analyses, patient data were compared with a reference population. Hierarchical regression analyses reflecting sociodemographic, clinical, and psychological variables were conducted to identify correlates of QoL. QoL and the strengths and difficulties of young patients with achondroplasia did not differ substantially from a healthy norm sample. However, the participants reported more behavioral problems and limitations in their physical and social QoL compared to patients with another short stature diagnosis. Strengths and difficulties, height-related beliefs, and social support correlated significantly with QoL. Adding psychological variables to the regression model increased the proportion of variance explained in QoL. Young persons with achondroplasia did not differ in their QoL and strengths and difficulties from healthy controls. Characteristics such as height appear less important for the self-perceived QoL than are strengths and difficulties and protective psychosocia~factors.

Statures of 19th century Chinese males in America.

Science.gov (United States)

Carson, Scott Alan

2007-01-01

This study considers statures of 19th century male Chinese immigrant to the American West and assesses how their personal characteristics were related with stature variation. The subjects were 1423 male Chinese prisoners received between 1850 and 1920 in the Arizona, California, Colorado, Idaho, New Mexico, Oregon, Utah and Washington state prisons. The study compares 19th century Chinese inmate statures with other studies and employs stature regression models on time, socio-economic status and residence within the USA to account for biological variation. Between 1830 and 1870, Chinese youth male stature declined by over 2 cm. Between 1820 and 1860, Chinese adult male stature also declined by over 2 cm. Chinese stature did not vary with socio-economic status or residence. Nineteenth century Chinese emigrant statures were influenced more by political and economic events than socio-economic status, and male emigrants' biological conditions may have deteriorated throughout the 19th century.

Evaluation of stature estimation from the database for forensic anthropology.

Science.gov (United States)

Wilson, Rebecca J; Herrmann, Nicholas P; Jantz, Lee Meadows

2010-05-01

Trotter and Gleser's (1-3) stature equations, conventionally used to estimate stature, are not appropriate to use in the modern forensic context. In this study, stature is assessed with a modern (birth years after 1944) American sample (N = 242) derived from the National Institute of Justice Database for Forensic Anthropology in the United States and the Forensic Anthropology Databank. New stature formulae have been calculated using forensic stature (FSTAT) and a combined dataset of forensic, cadaver, and measured statures referred to as Any Stature (ASTAT). The new FSTAT-based equations had an improved accuracy in Blacks with little improvement over Ousley's (4) equations for Whites. ASTAT-based equations performed equal to those of FSTAT equations and may be more appropriate, because they reflect both the variation in reported statures and in cadaver statures. It is essential to use not only equations based on forensic statures, but also equations based on modern samples.

Dose response association of pregnancy cigarette smoke exposure, childhood stature, overweight and obesity

NARCIS (Netherlands)

Koshy, Gibby; Delpisheh, Ali; Brabin, Bernard J.

2011-01-01

The combined dose response effects of pregnancy cigarette smoke exposure on childhood overweight, obesity and short stature have not been reported. A community based cross-sectional survey of 3038 children aged 5-11 years from 15 primary schools in Merseyside, UK. Self-completed parental

Identification of facial shape by applying golden ratio to the facial measurements: an interracial study in malaysian population.

Science.gov (United States)

Packiriswamy, Vasanthakumar; Kumar, Pramod; Rao, Mohandas

2012-12-01

The "golden ratio" is considered as a universal facial aesthetical standard. Researcher's opinion that deviation from golden ratio can result in development of facial abnormalities. This study was designed to study the facial morphology and to identify individuals with normal, short, and long face. We studied 300 Malaysian nationality subjects aged 18-28 years of Chinese, Indian, and Malay extraction. The parameters measured were physiognomical facial height and width of face, and physiognomical facial index was calculated. Face shape was classified based on golden ratio. Independent t test was done to test the difference between sexes and among the races. The mean values of the measurements and index showed significant sexual and interracial differences. Out of 300 subjects, the face shape was normal in 60 subjects, short in 224 subjects, and long in 16 subjects. As anticipated, the measurements showed variations according to gender and race. Only 60 subjects had a regular face shape, and remaining 240 subjects had irregular face shape (short and long). Since the short and long shape individuals may be at risk of developing various disorders, the knowledge of facial shapes in the given population is important for early diagnostic and treatment procedures.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Science.gov (United States)

Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

2014-01-01

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Lactose intolerance: lack of evidence for short stature or vitamin D deficiency in prepubertal children.

Directory of Open Access Journals (Sweden)

Nithya Setty-Shah

Full Text Available The health consequences of lactose intolerance (LI are unclear.To investigate the effects of LI on stature and vitamin D status.LI subjects will have similar heights and vitamin D status as controls.Prepubertal children of ages 3-12 years with LI (n=38, age 8.61 ± 3.08y, male/female 19/19 were compared to healthy, age- and gender-matched controls (n=49, age 7.95±2.64, male/female 28/21.prepubertal status (boys: testicular volume <3cc; girls: Tanner 1 breasts, diagnosis of LI by hydrogen breath test, and no history of calcium or vitamin D supplementation. Vitamin D deficiency was defined as 25-hydroxyvitamin D [25(OHD] <50 nmol/L. Gender-adjusted midparental target height (MPTH z-score was calculated using NCHS data for 18 year-old adults. Data were expressed as mean ± SD.There was no significant difference in 25(OHD between the LI and non-LI subjects (60.1±21.1, vs. 65.4 ± 26.1 nmol/L, p = 0.29. Upon stratification into normal weight (BMI <85(th percentile vs. overweight/obese (BMI ≥85(th percentile, the normal weight controls had significantly higher 25(OHD level than both the normal weight LI children (78.3 ± 32.6 vs. 62.9 ± 23.2, p = 0.025, and the overweight/obese LI children (78.3±32.6 vs. 55.3±16.5, p = 0.004. Secondly, there was no overall difference in height z-score between the LI children and controls. The normal weight LI patients had similar height as normal controls (-0.46 ± 0.89 vs. -0.71 ± 1.67, p = 0.53, while the overweight/obese LI group was taller than the normal weight controls (0.36 ± 1.41 vs. -0.71 ± 1.67, p = 0.049, and of similar height as the overweight/obese controls (0.36 ± 1.41 vs. 0.87 ± 1.45, p = 0.28. MPTH z-score was similar between the groups.Short stature and vitamin D deficiency are not features of LI in prepubertal children.

Use of magnetic resonance imaging in short stature: data from National Cooperative Growth Study (NCGS) Substudy 8.

Science.gov (United States)

Kemp, Stephen F; Alter, Craig A; Dana, Ken; Baptista, Joyce; Blethen, Sandra L

2002-05-01

The primary use of magnetic resonance imaging (MRI) in the evaluation of children with short stature (SS) is to discover lesions in the central nervous system (CNS), particularly tumors that may require intervention. MRI has a secondary role in identifying structural abnormalities responsible for growth hormone deficiency (GHD). We examined data from the National Cooperative Growth Study (NCGS) Substudy 8 to determine how American physicians are using MRI in evaluating children with SS. Of the 21,738 short children enrolled in NCGS, 5% underwent MRI during their follow-up. Children who had GH stimulation testing were more likely to have had an MRI than those in whom no GH stimulation test was performed (19% vs 2%, p 10 ng/ml), respectively. Abnormalities unrelated to the hypothalamus or pituitary represented 30% of these findings, while disorders in pituitary anatomy, including pituitary hypoplasia, pituitary stalk interruption, and ectopic posterior pituitary, represented an additional 30% of abnormal MRI examinations. CNS tumors comprised 23% of abnormal findings in these patients. We conclude that MRI provides significant value in the evaluation of children with SS, by identifying CNS tumors associated with growth failure as well as anatomical abnormalities of the pituitary. These findings are useful in confirming the diagnosis of GHD in children and identifying potential candidates for continued GH replacement in adulthood.

Changes in stature, weight, and nutritional status with tourism-based economic development in the Yucatan.

Science.gov (United States)

Leatherman, Thomas L; Goodman, Alan H; Stillman, Tobias

2010-07-01

Over the past 40 years, tourism-based economic development has transformed social and economic conditions in the Yucatan Peninsula, Mexico. We address how these changes have influenced anthropometric indicators of growth and nutritional status in Yalcoba, a Mayan farming community involved in the circular migration of labor in the tourist economy. Data are presented on stature and weight for children measured in 1938 in the Yucatan Peninsula and from 1987 to 1998 in the Mayan community of Yalcoba. In addition, stature, weight and BMI are presented for adults in Yalcoba based on clinic records. Childhood stature varied little between 1938 and 1987. Between 1987 and 1998 average male child statures increased by 2.6cm and female child statures increased by 2.7cm. Yet, 65% of children were short for their ages. Between 1987 and 1998, average child weight increased by 1.8kg. Child BMIs were similar to US reference values and 13% were considered to be above average for weight. Forty percent of adult males and 64% of females were overweight or obese. The anthropometric data from Yalcoba suggest a pattern of stunted children growing into overweight adults. This pattern is found elsewhere in the Yucatan and in much of the developing world where populations have experienced a nutrition transition toward western diets and reduced physical activity levels. 2010 Elsevier B.V. All rights reserved.

Non-linear associations between stature and mate choice characteristics for American men and their spouses

NARCIS (Netherlands)

Stulp, G.; Mills, M.; Pollet, T.V.; Barrett, L.

2014-01-01

Objectives: Although male height is positively associated with many aspects of mate quality, average height men attain higher reproductive success in US populations. We hypothesize that this is because the advantages associated with taller stature accrue mainly from not being short, rather than from

Non-Linear Associations between Stature and Mate Choice Characteristics for American Men and their Spouses

NARCIS (Netherlands)

Stulp, Gert; Mills, Melinda; Pollet, Thomas V.; Barrett, Louise

2014-01-01

Objectives: Although male height is positively associated with many aspects of mate quality, average height men attain higher reproductive success in US populations. We hypothesize that this is because the advantages associated with taller stature accrue mainly from not being short, rather than from

Enhanced short-term sensitization of facial compared with limb heat pain.

Science.gov (United States)

Schmidt, Katharina; Schunke, Odette; Forkmann, Katarina; Bingel, Ulrike

2015-08-01

Habituation and sensitization are important features of individual sensitivity to repetitive noxious stimulation and have been investigated in numerous studies. However, it is unclear whether these phenomena vary depending on the site of stimulation. Here we compared short-term and long-term effects of painful heat stimulation on the forehead and limb using an established longitudinal heat pain paradigm performed over 8 consecutive days in 36 healthy volunteers. Participants were randomized into 2 groups; participants received repetitive heat pain stimulation either on the left volar forearm or on the left side of the forehead. Our data show a comparable degree of habituation over the course of 8 days in both groups. However, participants in the trigeminal stimulation group exhibited stronger within-session sensitization (indexed by a higher within-session increase in pain intensity ratings) than those who received the forearm stimulation. Furthermore, over the course of the experiment we found a correlation between habituation and anxiety, showing less habituation in participants with higher trait anxiety scores. Our findings are in line with somatotopic differences in response to painful stimulation and a higher proneness of trigeminal pain to sensitization processes, which might be explained by the biological relevance of the head and facial area for vital functions. The contribution of this sensitivity to the development and maintenance of clinical facial pain and headache disorders warrants further investigation. This study uses psychophysical methods to evaluate the differences in long-term habituation and short-term sensitization to heat pain between the trigeminal and spinal systems. We found stronger sensitization for trigeminal compared with nociceptive stimuli on the forearm. The contribution of this sensitivity to clinical pain states warrants further investigation. Copyright © 2015 American Pain Society. Published by Elsevier Inc. All rights reserved.

A practical method of estimating stature of bedridden female nursing home patients.

Science.gov (United States)

Muncie, H L; Sobal, J; Hoopes, J M; Tenney, J H; Warren, J W

1987-04-01

Accurate measurement of stature is important for the determination of several nutritional indices as well as body surface area (BSA) for the normalization of creatinine clearances. Direct standing measurement of stature of bedridden elderly nursing home patients is impossible, and stature as recorded in the chart may not be valid. An accurate stature obtained by summing five segmental measurements was compared to the stature recorded in the patient's chart and calculated estimates of stature from measurement of a long bone (humerus, tibia, knee height). Estimation of stature from measurement of knee height was highly correlated (r = 0.93) to the segmental measurement of stature while estimates from other long-bone measurements were less highly correlated (r = 0.71 to 0.81). Recorded chart stature was poorly correlated (r = 0.37). Measurement of knee height provides a simple, quick, and accurate means of estimating stature for bedridden females in nursing homes.

Progressive Decline in Height Standard Deviation Scores in the First 5 Years of Life Distinguished Idiopathic Growth Hormone Deficiency from Familial Short Stature and Constitutional Delay of Growth.

Science.gov (United States)

Rothermel, Juliane; Lass, Nina; Toschke, Christina; Reinehr, Thomas

2016-01-01

Familial short stature (FSS) and constitutional delay of growth (CDG) are the most frequent norm variants in children presenting with short stature. Knowing the growth patterns of these entities in the first years of life might be helpful to distinguish them from growth hormone deficiency (GHD) or other chronic diseases. We studied the height in the first 5 years of life in 26 children with FSS, in 38 children with CDG and in 14 children with idiopathic GHD. Height standard deviation scores (SDS) did not change between birth and 6 months of life, while height SDS decreased significantly afterwards in GHD, FSS, and CDG. The loss of height SDS was higher in the first 2 years of life than between 2 and 5 years of life in children with CDG (-0.92 vs. -0.11; p = 0.003) or FSS (-0.79 vs. -0.01; p = 0.002). In idiopathic GHD, the loss of height SDS did not differ between the first 2 years of life and the next 3 years (-0.78 vs. -0.77; p = 0.821). Children with FSS and CDG showed a decline in height SDS mainly in the first 2 years of life, whereas the height SDS of children with idiopathic GHD decreased almost continuously over the first 5 years of life. © 2016 S. Karger AG, Basel.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

KAUST Repository

Alsemari, Abdulaziz

2017-11-14

Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

KAUST Repository

Alsemari, Abdulaziz; Al-Younes, Banan; Goljan, Ewa; Jaroudi, Dyala; BinHumaid, Faisal; Meyer, Brian F.; Arold, Stefan T.; Monies, Dorota

2017-01-01

Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency.A G>A variant in exon 29 of VARS2 (c.3650G>A) (NM_006295) was identified in the index case. This homozygous variant was confirmed by Sanger sequencing and segregated with disease in the family studied. The c.3650G>A change results in alteration of arginine to histidine at residue 1217 (R1217H) of the mature protein and is predicted to be pathogenic.These findings contribute to a growing list of aaRSs disorders, broadens the spectrum of phenotypes attributable to VARS2 mutations, and provides new insight into genotype-phenotype correlations among the mitochondrial synthetase genes.

Family size, the physical environment, and socioeconomic effects across the stature distribution.

Science.gov (United States)

Carson, Scott Alan

2012-04-01

A neglected area in historical stature studies is the relationship between stature and family size. Using robust statistics and a large 19th century data set, this study documents a positive relationship between stature and family size across the stature distribution. The relationship between material inequality and health is the subject of considerable debate, and there was a positive relationship between stature and wealth and an inverse relationship between stature and material inequality. After controlling for family size and wealth variables, the paper reports a positive relationship between the physical environment and stature. Copyright © 2012 Elsevier GmbH. All rights reserved.

Estimation of stature from sternum - Exploring the quadratic models.

Science.gov (United States)

Saraf, Ashish; Kanchan, Tanuj; Krishan, Kewal; Ateriya, Navneet; Setia, Puneet

2018-04-14

Identification of the dead is significant in examination of unknown, decomposed and mutilated human remains. Establishing the biological profile is the central issue in such a scenario, and stature estimation remains one of the important criteria in this regard. The present study was undertaken to estimate stature from different parts of the sternum. A sample of 100 sterna was obtained from individuals during the medicolegal autopsies. Length of the deceased and various measurements of the sternum were measured. Student's t-test was performed to find the sex differences in stature and sternal measurements included in the study. Correlation between stature and sternal measurements were analysed using Karl Pearson's correlation, and linear and quadratic regression models were derived. All the measurements were found to be significantly larger in males than females. Stature correlated best with the combined length of sternum, among males (R = 0.894), females (R = 0.859), and for the total sample (R = 0.891). The study showed that the models derived for stature estimation from combined length of sternum are likely to give the most accurate estimates of stature in forensic case work when compared to manubrium and mesosternum. Accuracy of stature estimation further increased with quadratic models derived for the mesosternum among males and combined length of sternum among males and females when compared to linear regression models. Future studies in different geographical locations and a larger sample size are proposed to confirm the study observations. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Stature estimation from complete long bones in the Middle Pleistocene humans from the Sima de los Huesos, Sierra de Atapuerca (Spain).

Science.gov (United States)

Carretero, José-Miguel; Rodríguez, Laura; García-González, Rebeca; Arsuaga, Juan-Luis; Gómez-Olivencia, Asier; Lorenzo, Carlos; Bonmatí, Alejandro; Gracia, Ana; Martínez, Ignacio; Quam, Rolf

2012-02-01

Systematic excavations at the site of the Sima de los Huesos (SH) in the Sierra de Atapuerca (Burgos, Spain) have allowed us to reconstruct 27 complete long bones of the human species Homo heidelbergensis. The SH sample is used here, together with a sample of 39 complete Homo neanderthalensis long bones and 17 complete early Homo sapiens (Skhul/Qafzeh) long bones, to compare the stature of these three different human species. Stature is estimated for each bone using race- and sex-independent regression formulae, yielding an average stature for each bone within each taxon. The mean length of each long bone from SH is significantly greater (p Huesos hominins nor the Neandertals should be considered 'short' people. In fact, the average stature within the genus Homo seems to have changed little over the course of the last two million years, since the appearance of Homo ergaster in East Africa. It is only with the emergence of H. sapiens, whose earliest representatives were 'very tall', that a significant increase in stature can be documented. Copyright © 2011 Elsevier Ltd. All rights reserved.

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

Size Matters Stature Is Related to Diagnoses of Depression in Young Military Men

OpenAIRE

Valery Krupnik; Mariya V. Cherkasova

2014-01-01

Evolutionary theories suggest that depression has evolved as an adaptation to insurmountable adversity or defeat. One prediction stemming from these models is that individual attributes associated with defeat in a given social environment could be risk factors for depression. We hypothesized that in young military men, where physical prowess was important, short stature might constitute a risk of depression and that th...

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Science.gov (United States)

Barraza-García, Jimena; Iván Rivera-Pedroza, Carlos; Salamanca, Luis; Belinchón, Alberta; López-González, Vanesa; Sentchordi-Montané, Lucía; del Pozo, Ángela; Santos-Simarro, Fernando; Campos-Barros, Ángel; Lapunzina, Pablo; Guillén-Navarro, Encarna; González-Casado, Isabel; García-Miñaur, Sixto; Heath, Karen E

2016-01-01

Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. © 2015 Wiley Periodicals, Inc.

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Science.gov (United States)

Benito-Sanz, Sara; Royo, Jose Luis; Barroso, Eva; Paumard-Hernández, Beatriz; Barreda-Bonis, Ana C; Liu, Pengfei; Gracía, Ricardo; Lupski, James R; Campos-Barros, Ángel; Gómez-Skarmeta, José Luis; Heath, Karen Elise

2012-07-01

SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth. Defects in SHOX or its enhancers have been observed in ∼60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic Madelung deformity, and in 2-5% of idiopathic short stature (ISS). To identify the molecular defect in the remaining genetically undiagnosed LWD and ISS patients, this study screened previously unanalysed PAR1 regions in 124 LWD and 576 ISS probands. PAR1 screening was undertaken by multiplex ligation dependent probe amplification (MLPA). Copy number alterations were subsequently confirmed and delimited by locus-specific custom-designed MLPA, array comparative genomic hybridisation (CGH) and breakpoint junction PCR/sequencing. A recurrent PAR1 deletion downstream of SHOX spanning 47543 bp with identical breakpoints was identified in 19 LWD (15.3%) and 11 ISS (1.9%) probands, from 30 unrelated families. Eight evolutionarily conserved regions (ECRs 1-8) identified within the deleted sequence were evaluated for SHOX regulatory activity by means of chromosome conformation capture (3C) in chicken embryo limbs and luciferase reporter assays in human U2OS osteosarcoma cells. The 3C assay indicated potential SHOX regulatory activity by ECR1, which was subsequently confirmed to act as a SHOX enhancer, operating in an orientation and position independent manner, in human U2OS cells. This study has identified the first recurrent PAR1 deletion in LWD and ISS, which results in the loss of a previously uncharacterised SHOX enhancer. The loss of this enhancer may decrease SHOX transcription, resulting in LWD or ISS due to SHOX haploinsufficiency.

Cognitive functioning of adults with Noonan syndrome: A case-control study

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Roelofs, R.L.; Burgt, C.J.A.M. van der; Souren, P.M.; Verhoeven, W.M.A.; Kessels, R.P.C.; Egger, J.I.M.

2012-01-01

Noonan syndrome (NS) is a genetic disorder characterised by short stature, facial dysmorphia, congenital heart defects and mildly lowered intellectual abilities. Research has mainly focused on genetic and somatic aspects, while intellectual and cognitive functioning has been documented scarcely.

Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature.

Science.gov (United States)

Krebs, Andreas; Moske-Eick, Olaf; Doerfer, Jürgen; Roemer-Pergher, Cordula; van der Werf-Grohmann, Natascha; Schwab, Karl Otfried

2012-01-01

Growth hormone (GH) is the most frequently used treatment in children with idiopathic short stature (ISS). Aromatase inhibitor (AI) therapy is still in an experimental state, and both final height (FH) and long-term efficacy data in ISS have not been published. We present a 14.5-year-old boy with ISS and a height of 142.7 cm [standard deviation score (SDS) -2.79]. Based on the baseline bone age (BA) of 13.5-14 years, his predicted adult height (PAH) by Bayley/Pinneau was 154 cm (SDS -3.77)-158.2 (SDS -3.15). After a 5-year letrozole monotherapy, FH was 169 cm (SDS -1.57) showing a height difference between PAH and FH from 10.8 to 15 cm. No permanent side effects of the medication have been observed. Both a transient occurrence and a spontaneous recovery of decreased bone mineral apparent density were seen, verified by dual-energy X-ray absorptiometry. Spinal magnetic resonance imaging revealed no vertebral abnormalities. All therapy might be an effective and low-cost alternative to the use of GH. Further controlled trials should prove efficacy and safety of long-term AI therapy in boys with ISS.

Early anthropometric indices predict short stature and overweight status in a cohort of Peruvians in early adolescence

Science.gov (United States)

Sterling, Robie; Miranda, J Jaime; Gilman, Robert H; Cabrera, Lilia; Sterling, Charles R; Bern, Caryn; Checkley, William

2014-01-01

While childhood malnutrition is associated with increased morbidity and mortality, less well understood is how early childhood growth influences height and body composition later in life. We revisited 152 Peruvian children who participated in a birth cohort study between 1995 and 1998, and obtained anthropometric and bioimpedance measurements 11 to 14 years later. We used multivariable regression models to study the effects of childhood anthropometric indices on height and body composition in early adolescence. Each standard deviation decrease in length-for-age at birth was associated with a decrease in adolescent height-for-age of 0.7 SD in both boys and girls (all poverweight in early adolescence. Linear growth retardation in early childhood is a strong determinant of adolescent stature, indicating that, in developing countries, growth failure in height during early childhood persists through early adolescence. Interventions addressing linear growth retardation in childhood are likely to improve adolescent stature and related-health outcomes in adulthood. PMID:22552904

Affective functioning and social cognition in Noonan syndrome

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Egger, J.I.M.; Verhoeven, W.M.A.; Burgt, C.J.A.M. van der; Kessels, R.P.C.

2012-01-01

Background. Noonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation in a clinical group. In

Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

NARCIS (Netherlands)

Croonen, E.A.; Burgt, I. van der; Kapusta, L.; Draaisma, J.M.T.

2008-01-01

Noonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross-sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were

The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

NARCIS (Netherlands)

Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K.; Wright, M.; Smith, J.C.; Kerr, B.A.; Schelley, S.; Hoyme, H.E.; Vries, L.B.A. de; Kleefstra, T.; Grompe, M.; Cox, B.; Gecz, J.; Partington, M.

2004-01-01

The usual description of the Borjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.

Hutchinson-Gilford progeria syndrome: review of the phenotype

NARCIS (Netherlands)

Hennekam, Raoul C. M.

2006-01-01

Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads

Genotype and phenotype spectrum of NRAS germline variants

NARCIS (Netherlands)

Altmuller, F.; Lissewski, C.; Bertola, D.; Flex, E.; Stark, Z.; Spranger, S.; Baynam, G.; Buscarilli, M.; Dyack, S.; Gillis, J.; Yntema, H.G.; Pantaleoni, F.; Loon, R.L. van; MacKay, S.; Mina, K.; Schanze, I.; Tan, T.Y.; Walsh, M.; White, S.M.; Niewisch, M.R.; Garcia-Minaur, S.; Plaza, D.; Ahmadian, M.R.; Cave, H.; Tartaglia, M.; Zenker, M.

2017-01-01

RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly

Forensic anthropology casework-essential methodological considerations in stature estimation.

Science.gov (United States)

Krishan, Kewal; Kanchan, Tanuj; Menezes, Ritesh G; Ghosh, Abhik

2012-03-01

The examination of skeletal remains is a challenge to the medical examiner's/coroner's office and the forensic anthropologist conducting the investigation. One of the objectives of the medico-legal investigation is to estimate stature or height from various skeletal remains and body parts brought for examination. Various skeletal remains and body parts bear a positive and linear correlation with stature and have been successfully used for stature estimation. This concept is utilized in estimation of stature in forensic anthropology casework in mass disasters and other forensic examinations. Scientists have long been involved in standardizing the anthropological data with respect to various populations of the world. This review deals with some essential methodological issues that need to be addressed in research related to estimation of stature in forensic examinations. These issues have direct relevance in the identification of commingled or unknown remains and therefore it is essential that forensic nurses are familiar with the theories and techniques used in forensic anthropology. © 2012 International Association of Forensic Nurses.

Motives for choosing growth-enhancing hormone treatment in adolescents with idiopathic short stature: a questionnaire and structured interview study.

Science.gov (United States)

Visser-van Balen, Hanneke; Geenen, Rinie; Kamp, Gerdine A; Huisman, Jaap; Wit, Jan M; Sinnema, Gerben

2005-06-08

Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such as the amelioration of current height-related psychosocial problems or the enhancement of future prospects in life and society. The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment. Participants were early pubertal adolescents (25 girls, 13 boys) aged from 11 to 13 years (mean age 11.5 years) with a height standard deviation score (SDS) ranging from -1.03 to -3.43. All had been classified as idiopathic short stature or persistent short stature born small for the gestational age (intrauterine growth retardation) on the basis of a height SDS below -2, or had a height SDS between -1 and -2 and a predicted adult height SDS below -2. The adolescents and their parents completed questionnaires and a structured interview on the presence of height-related stressors, parental worries about their child's behavior and future prospects, problems in psychosocial functioning, and treatment expectations. Questionnaire scores were compared to norms of the general Dutch population. The adolescents reported normal psychosocial functioning and highly positive expectations of the treatment in terms of height gain, whereas the parents reported that their children encountered some behavioral problems (being anxious/depressed, and social and attention problems) and height-related stressors (being teased and juvenilized). About 40% of the parents were worried about their children's future prospects for finding a spouse or job. The motives of the adolescents and their parents exhibited rather different profiles. The most prevalent parental worries related to

Motives for choosing growth-enhancing hormone treatment in adolescents with idiopathic short stature: a questionnaire and structured interview study

Directory of Open Access Journals (Sweden)

Huisman Jaap

2005-06-01

Full Text Available Abstract Background Growth-enhancing hormone treatment is considered a possible intervention in short but otherwise healthy adolescents. Although height gain is an obvious measure for evaluating hormone treatment, this may not be the ultimate goal for the person, but rather a means to reach other goals such as the amelioration of current height-related psychosocial problems or the enhancement of future prospects in life and society. The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment. Methods Participants were early pubertal adolescents (25 girls, 13 boys aged from 11 to 13 years (mean age 11.5 years with a height standard deviation score (SDS ranging from -1.03 to -3.43. All had been classified as idiopathic short stature or persistent short stature born small for the gestational age (intrauterine growth retardation on the basis of a height SDS below -2, or had a height SDS between -1 and -2 and a predicted adult height SDS below -2. The adolescents and their parents completed questionnaires and a structured interview on the presence of height-related stressors, parental worries about their child's behavior and future prospects, problems in psychosocial functioning, and treatment expectations. Questionnaire scores were compared to norms of the general Dutch population. Results The adolescents reported normal psychosocial functioning and highly positive expectations of the treatment in terms of height gain, whereas the parents reported that their children encountered some behavioral problems (being anxious/depressed, and social and attention problems and height-related stressors (being teased and juvenilized. About 40% of the parents were worried about their children's future prospects for finding a spouse or job. The motives of the adolescents and their parents exhibited rather different profiles

Serotonin transporter gene-linked polymorphism affects detection of facial expressions.

Directory of Open Access Journals (Sweden)

Ai Koizumi

Full Text Available Previous studies have demonstrated that the serotonin transporter gene-linked polymorphic region (5-HTTLPR affects the recognition of facial expressions and attention to them. However, the relationship between 5-HTTLPR and the perceptual detection of others' facial expressions, the process which takes place prior to emotional labeling (i.e., recognition, is not clear. To examine whether the perceptual detection of emotional facial expressions is influenced by the allelic variation (short/long of 5-HTTLPR, happy and sad facial expressions were presented at weak and mid intensities (25% and 50%. Ninety-eight participants, genotyped for 5-HTTLPR, judged whether emotion in images of faces was present. Participants with short alleles showed higher sensitivity (d' to happy than to sad expressions, while participants with long allele(s showed no such positivity advantage. This effect of 5-HTTLPR was found at different facial expression intensities among males and females. The results suggest that at the perceptual stage, a short allele enhances the processing of positive facial expressions rather than that of negative facial expressions.

Do group-specific equations provide the best estimates of stature?

Science.gov (United States)

Albanese, John; Osley, Stephanie E; Tuck, Andrew

2016-04-01

An estimate of stature can be used by a forensic anthropologist with the preliminary identification of an unknown individual when human skeletal remains are recovered. Fordisc is a computer application that can be used to estimate stature; like many other methods it requires the user to assign an unknown individual to a specific group defined by sex, race/ancestry, and century of birth before an equation is applied. The assumption is that a group-specific equation controls for group differences and should provide the best results most often. In this paper we assess the utility and benefits of using group-specific equations to estimate stature using Fordisc. Using the maximum length of the humerus and the maximum length of the femur from individuals with documented stature, we address the question: Do sex-, race/ancestry- and century-specific stature equations provide the best results when estimating stature? The data for our sample of 19th Century White males (n=28) were entered into Fordisc and stature was estimated using 22 different equation options for a total of 616 trials: 19th and 20th Century Black males, 19th and 20th Century Black females, 19th and 20th Century White females, 19th and 20th Century White males, 19th and 20th Century any, and 20th Century Hispanic males. The equations were assessed for utility in any one case (how many times the estimated range bracketed the documented stature) and in aggregate using 1-way ANOVA and other approaches. This group-specific equation that should have provided the best results was outperformed by several other equations for both the femur and humerus. These results suggest that group-specific equations do not provide better results for estimating stature while at the same time are more difficult to apply because an unknown must be allocated to a given group before stature can be estimated. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

The Relationship between Stature and Insolation: Evidence from Soldiers and Prisoners

OpenAIRE

Scott A. Carson

2009-01-01

Nineteenth century white US statures varied with nutrition, disease exposure, and the physical environment. An additional explanation for stature growth is vitamin D production. Vitamin D is produced internally by the synthesis of cholesterol and sunlight in the epidermis. However, studies that link stature to insolation and vitamin D production rely on only one comprehensive data set. To test the relationship between insolation and stature further, this study broadens the sample to include b...

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

NARCIS (Netherlands)

Tartaglia, M.; Kalidas, K.; Shaw, A.; Song, X.; Musat, D.L.; Burgt, C.J.A.M. van der; Brunner, H.G.; Bertola, D.R.; Crosby, A.; Ion, A.; Kucherlapati, R.S.; Jeffery, S.; Patton, M.A.; Gelb, B.D.

2002-01-01

Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the gene encoding the non-receptor-type protein tyrosine phosphatase SHP-2 (src homology region 2-domain

Quality of life in adults with Noonan syndrome

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Nobbe, F.; Roelofs, R.L.; Burgt, C.J.A.M. van der; Kessels, R.P.C.; Egger, J.I.M.

2016-01-01

Objective: Noonan syndrome (NS) is a genetic disorder related to mutations in the RAS-MAPK pathway. Cardinal features include short stature, facial dysmorphia, congenital heart defects, subtle cognitive decrements and a slightly lowered mean IQ (≈ 90). These characteristics may bring about lowered

Germline KRAS mutations cause Noonan syndrome.

NARCIS (Netherlands)

Schubbert, S.; Zenker, M.; Rowe, S.L.; Boll, S.; Klein, C.; Bollag, G.; Burgt, I. van der; Musante, L.; Kalscheuer, V.M.M.; Wehner, L.E.; Nguyen, H.; West, B.; Zhang, K.Y.; Sistermans, E.A.; Rauch, A.; Niemeyer, C.M.; Shannon, K.; Kratz, C.P.

2006-01-01

Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause approximately 50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream

Estimation of stature from hand impression: a nonconventional approach.

Science.gov (United States)

Ahemad, Nasir; Purkait, Ruma

2011-05-01

Stature is used for constructing a biological profile that assists with the identification of an individual. So far, little attention has been paid to the fact that stature can be estimated from hand impressions left at scene of crime. The present study based on practical observations adopted a new methodology of measuring hand length from the depressed area between hypothenar and thenar region on the proximal surface of the palm. Stature and bilateral hand impressions were obtained from 503 men of central India. Seventeen dimensions of hand were measured on the impression. Linear regression equations derived showed hand length followed by palm length are best estimates of stature. Testing the practical utility of the suggested method on latent prints of 137 subjects, a statistically insignificant result was obtained when known and estimated stature derived from latent prints was compared. The suggested approach points to a strong possibility of its usage in crime scene investigation, albeit the fact that validation studies in real-life scenarios are performed. © 2011 American Academy of Forensic Sciences.

Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels.

Science.gov (United States)

Hoyer-Kuhn, Heike; Höbing, Laura; Cassens, Julia; Schoenau, Eckhard; Semler, Oliver

2016-07-01

Osteogenesis imperfecta (OI) is characterized by bone fragility and short stature. Data about IGF-I/IGFBP-3 levels are rare in OI. Therefore IGF-I/IGFBP-3 levels in children with different types of OI were investigated. IGF-I and IGFBP-3 levels of 60 children (male n=38) were assessed in a retrospective cross-sectional setting. Height/weight was significant different [height z-score type 3 versus type 4: p=0.0011 and weight (p≤0.0001)] between OI type 3 and 4. Mean IGF-I levels were in the lower normal range (mean±SD level 137.4±109.1 μg/L). Mean IGFBP-3 measurements were in the normal range (mean±SD 3.105±1.175 mg/L). No significant differences between OI type 3 and 4 children have been observed (IGF-I: p=0.0906; IGFBP-3: p=0.2042). Patients with different severities of OI have IGF-I and IGFBP-3 levels in the lower normal range. The type of OI does not significantly influence these growth factors.

The glucagon test in the diagnosis of growth hormone deficiency in children with short stature younger than 6 years.

Science.gov (United States)

Secco, Andrea; di Iorgi, Natascia; Napoli, Flavia; Calandra, Erika; Ghezzi, Michele; Frassinetti, Costanza; Parodi, Stefano; Casini, Maria Rosaria; Lorini, Renata; Loche, Sandro; Maghnie, Mohamad

2009-11-01

Few studies have addressed the diagnostic role of the glucagon test in children with suspected GH deficiency (GHD). The objective of the study was to investigate the diagnostic value of the glucagon test as an alternative test to insulin tolerance test (ITT) and arginine in GHD children younger than 6 yr. This study was conducted in two pediatric endocrinology centers. Forty-eight children (median age 4.2 yr, median height -3.0 sd score) with GHD confirmed by a peak GH to ITT and arginine less than 10 microg/liter (median 4.7 and 3.4 microg/liter, respectively) underwent a glucagon stimulation test. Magnetic resonance imaging showed normal hypothalamic-pituitary anatomy in 24 children, isolated anterior pituitary hypoplasia in seven, and structural hypothalamic-pituitary abnormalities in 17. Median GH peak response to glucagon (13.5 microg/liter) was significantly higher than that observed after ITT and arginine (P short stature. Normative data for this test in young children need to be established before its use in clinical practice.

An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing

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Jinsup Kim

2017-09-01

Full Text Available Noonan syndrome (NS is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS. In this case, the patient showed short stature, dysmorphic facial features suggestive of NS, feeding intolerance, cryptorchidism, and intellectual disability in early childhood. At the age of 16, the patient still showed extreme short stature with delayed puberty and characteristic facial features suggestive of NS. Although the patient had no cardiac problems or chest wall deformities, which are commonly present in NS and are major concerns for patients and clinicians, the patient showed several other characteristic clinical features of NS. Considering the possibility of a genetic disorder, including NS, a molecular genetic study with TES was performed. With TES analysis, we detected a pathogenic variant of c.458A > T in KRAS in this patient with atypical NS phenotype and provided appropriate clinical management and genetic counseling. The application of TES enables accurate molecular diagnosis of patients with nonspecific or atypical features in genetic diseases with several responsible genes, such as NS.

Multiplication factor versus regression analysis in stature estimation from hand and foot dimensions.

Science.gov (United States)

Krishan, Kewal; Kanchan, Tanuj; Sharma, Abhilasha

2012-05-01

Estimation of stature is an important parameter in identification of human remains in forensic examinations. The present study is aimed to compare the reliability and accuracy of stature estimation and to demonstrate the variability in estimated stature and actual stature using multiplication factor and regression analysis methods. The study is based on a sample of 246 subjects (123 males and 123 females) from North India aged between 17 and 20 years. Four anthropometric measurements; hand length, hand breadth, foot length and foot breadth taken on the left side in each subject were included in the study. Stature was measured using standard anthropometric techniques. Multiplication factors were calculated and linear regression models were derived for estimation of stature from hand and foot dimensions. Derived multiplication factors and regression formula were applied to the hand and foot measurements in the study sample. The estimated stature from the multiplication factors and regression analysis was compared with the actual stature to find the error in estimated stature. The results indicate that the range of error in estimation of stature from regression analysis method is less than that of multiplication factor method thus, confirming that the regression analysis method is better than multiplication factor analysis in stature estimation. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements.

Science.gov (United States)

Lewis, Sandra E; Fowler, Neil E

2009-10-01

Lewis SE, Fowler NE. Changes in intervertebral disk dimensions after a loading task and the relationship with stature change measurements. To test the hypothesis that there would be a linear relationship between overall stature change determined by stadiometry and markers of lumbar disk height loss determined from magnetic resonance imaging (MRI). The short-term loading response of the lumbar spine was evaluated with both stadiometry and MRI, using a within-subject repeated-measures design. Measures were obtained both before and after 15 minutes of walking wearing a weighted vest (20% of body mass). Stature loss measured on the stadiometer was compared with change in lumbar spine length assessed from the MRI images. A university laboratory. Participants (N=13; mean age +/- SD, 28.5+/-5.2y; mean height +/- SD, 1.76+/-0.10m; mean body mass +/- SD, 76.6+/-14.9kg) were invited to take part in the investigation. The group was mixed (9 men, 4 women) and comprised people with no history of low back pain. Not applicable. Lumbar spine length assessed via MRI and stature change measured via stadiometry. A significant height loss was observed over the complete lumbar spine (Pstature loss (r=.61). The results were supportive of the use of stadiometry as an indirect measure of changes in intervertebral disk height.

Value of pituitary MRI in children with short stat

OpenAIRE

Huan ZHOU; Ya-ling NIE; Wei FAN; Cong-ying WANG; An-sheng LI; Hong WANG; Meng-meng WU

2013-01-01

Objective　To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods　The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results　Of the 130 children, 82 cases (63.1%) were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9%) pituitary morphol...

Cognitive functioning in adults with Noonan syndrome

NARCIS (Netherlands)

Wingbermühle, P.A.M.; Roelofs, R.L.; Burgt, I. van der; Verhoeven, W.M.A.; Kessels, R.P.C.; Egger, J.I.M.

2013-01-01

Objective: Noonan syndrome (NS) is a common genetic disorder characterized by short stature, facial dysmorphia, congenital heart defects and a slightly lowered mean IQ. Genetic research has revealed mutations in nine genes in the RAS-MAPK pathway. Although research on cognitive functioning in NS is

De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

DEFF Research Database (Denmark)

Tos, T; Alp, M Y; Karacan, C D

2014-01-01

In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

Clinical features and respiratory complications in Myhre syndrome

NARCIS (Netherlands)

McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G.; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John

2011-01-01

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features

PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice

NARCIS (Netherlands)

Paardekooper Overman, Jeroen; Yi, Jae-Sung; Bonetti, Monica; Soulsby, Matthew; Preisinger, Christian; Stokes, Matthew P; Hui, Li; Silva, Jeffrey C; Overvoorde, John; Giansanti, Piero; Heck, Albert J R; Kontaridis, Maria I; den Hertog, Jeroen; Bennett, Anton M

Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding Shp2, which manifests in congenital heart disease, short stature, and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD syndrome (LS)

Case Report: Meier-Gorlin syndrome: Report of an additional patient ...

African Journals Online (AJOL)

We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level.

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Science.gov (United States)

Mowat, D R; Croaker, G D; Cass, D T; Kerr, B A; Chaitow, J; Adès, L C; Chia, N L; Wilson, M J

1998-01-01

We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a further child at the age of 3 years after investigation for severe chronic constipation and another child, identified as sharing the same facial phenotype, had chronic constipation, but did not have HSCR. One of our patients has an interstitial deletion of chromosome 2, del(2)(q21q23). These children strongly resemble the patient reported by Lurie et al with HSCR and dysmorphic features associated with del(2)(q22q23). All patients have been isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. Review of published reports suggests that there is significant phenotypic and genetic heterogeneity within the group of patients with HSCR, MR, and microcephaly. In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families. Images PMID:9719364

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2017-12-01

Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

Stature Estimation for Bosnian Male Population

Directory of Open Access Journals (Sweden)

Nermin Sarajlić

2006-02-01

Full Text Available Since 1996, the Trotter and Gleser formulae to determine the stature of recovered missing persons in Bosnia and Herzegovina have been used. The purpose of this study is to develop appropriate stature estimation formulae from the length of the femur, tibia and fibula for use in the Bosnia and Herzegovina to help in identifications of the victims. Research was undertaken on 50 male cadavers, of individuals who died between the ages of 23 to 54 years. The cadaver length was measured and the length of the long bones was obtained from X-ray photographs. The length of the cadavers of the individuals who died after age of 45 years was corrected according to Giles' table. This study established that using Trotter and Gleser's formulae underestimate stature of tall people in the current population of Bosnia and Herzegovina. Smallest standard error of estimate is observed in the formula that uses the sum of the length of femur and fibula. There are no statistically significant differences between the length of the bones from the left and right sides of the body. Therefore, formulae developed from the average length of bone pairs are recommended for use.

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

Directory of Open Access Journals (Sweden)

Insook Jeong

2016-03-01

Full Text Available PurposeNoonan syndrome (NS is characterized by short stature, heart anomalies, developmental delays, dysmorphic features, cryptorchidism, and coagulation defects. Several studies reported the short-term effects of recombinant human growth hormone (rhGH treatment on the improvement of height. This study was performed to evaluate the long-term efficacy of rhGH in children with NS in Korea.MethodsThis study included 15 prepubertal NS children who received rhGH subcutaneously at a dose of 50–75 µg/kg/day for 6 days a week for at least >3 years. Preand posttreatment data, such as height, weight, bone age, insulin-like growth factor 1 (IGF-1, and IGF binding protein 3 (IGFBP-3 levels, were collected every 6 months.ResultsChronologic age and bone age at the start of treatment were 7.97±1.81 and 5.09±2.12 years, respectively. Height standard deviation score (SDS was increased from –2.64±0.64 to –1.54±1.24 years after 3 years (P<0.001. Serum IGF-1 SDS levels were elevated from –1.28±1.03 to –0.10±0.94 (P<0.001. Height SDS was more increased in subjects without PTPN11 mutations compared to those with mutations after 3 years (P=0.012. However, the other parameters, including bone age, IGF-1 SDS, and IGFBP-3 SDS, were not significantly different between patients with and without PTPN11 mutations.ConclusionAlthough this study included a relatively small number of patients, long-term rhGH therapy in NS patients was safe and effective at improving height, growth velocity, and serum IGF-1 levels, in accordance with previous studies. However, the meticulous monitoring of potential adverse events is still needed because of high dose of rhGH and preexisting hyperactivity of RAS-MAPK pathway. Patients with PTPN11 mutations demonstrated a decreased response to rhGH therapy compared to those without mutations.

Obstructive sleep apnea syndrome in a pubescent boy of short stature was improved with an orthodontic mandibular advancement oral appliance: a case report.

Science.gov (United States)

Ito, Shin; Otake, Hironao; Tsuiki, Satoru; Miyao, Etsuko; Noda, Akiko

2015-01-15

We report a 16-year-old pubescent pediatric patient with obstructive sleep apnea syndrome (OSAS) and short stature whose apnea hypopnea index (AHI) was significantly reduced following the use of an orthodontic oral appliance that advances the mandible ventrally. The mandible was advanced 64% of the maximal mandibular protrusive position with use of the appliance over a 3-year period. The patient's AHI without the appliance in place decreased from 101.6/h at baseline to 11/h after treatment. Moreover, the patient's height increased 14 cm during treatment, resulting in height close to the average height for his age. Cephalometric analysis revealed an improvement in his retrognathic mandible and proclination of the upper front teeth. In conclusion, an orthodontic mandibular advancement oral appliance played an important role not only in improving the patient's OSAS but also in normalizing his physical growth during puberty. © 2015 American Academy of Sleep Medicine.

Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.

Science.gov (United States)

Chiniara, Lyne; Perry, Rebecca J; Van Vliet, Guy; Huot, Céline; Deal, Cheri

2013-12-01

In 2001, a chart review of children referred to the authors' endocrine clinic because of short stature revealed that many were referred with insufficient baseline data, had normal height velocity and were within genetic target height. Therefore, a two-way fax communication system was implemented between referring physicians and the authors' service before the first visit. Aspects that were assessed included whether this system increased the information accompanying the patient at referral, resulted in children with nonpathological shortness not being seen in the clinic, and was used differently by paediatricians and general practitioners. Between January and December 2006, 138 referrals for short stature, diagnosed with familial short stature, constitutional delay or idiopathic short stature, were audited (69 with and 69 without previous fax communication). Data collected included source of referral, clinical information provided, available growth measurements, and results from laboratory and imaging studies. Fax communication resulted in growth curves being provided more often (95.6% of cases versus 40.5% of cases without fax communication [Pshort stature being given to 31 children based on the growth curve, laboratory and imaging results, without the children being seen in the endocrine clinic. Fax communication was also used more frequently by paediatricians (84%) than by general practitioners (15%). The fax communication system resulted in a more complete evaluation of referred patients by their physicians and reduced the number of unnecessary visits to the authors' specialty clinic while promoting medical education.

[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

Science.gov (United States)

Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang

2013-12-01

To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.

Cleidocranial dysostosis: case report; Disostose cleidocraniana: relato de caso

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Marussi, Victor Hugo Rocha; Mariz, Fernando Eduardo Nunes [Santa Casa da Misericordia, Juiz de Fora, MG (Brazil). Ultrimagem]. E-mail: vhmarussi@hotmail.com; Moraes, Aline Curcio de; Segregio, Camila Aparecida de Souza; Mendonca, Isac Miranda de [Universidade Federal de Juiz de Fora (UFJF), MG (Brazil). Medicina

2008-07-01

Cleidocranial dysostosis syndrome is an autosomal dominant condition with generalised dysplasia of bone and teeth. It is characterized by short stature, typical facial features and skeletal anomalies affecting skull and clavicle. The authors refer to the case of a male patient presenting this syndrome, emphasizing clinical and radiologic findings. (author)

Cleidocranial dysostosis: case report

International Nuclear Information System (INIS)

Marussi, Victor Hugo Rocha; Mariz, Fernando Eduardo Nunes; Moraes, Aline Curcio de; Segregio, Camila Aparecida de Souza; Mendonca, Isac Miranda de

2008-01-01

Cleidocranial dysostosis syndrome is an autosomal dominant condition with generalised dysplasia of bone and teeth. It is characterized by short stature, typical facial features and skeletal anomalies affecting skull and clavicle. The authors refer to the case of a male patient presenting this syndrome, emphasizing clinical and radiologic findings. (author)

Short-term visual deprivation reduces interference effects of task-irrelevant facial expressions on affective prosody judgments

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Ineke eFengler

2015-04-01

Full Text Available Several studies have suggested that neuroplasticity can be triggered by short-term visual deprivation in healthy adults. Specifically, these studies have provided evidence that visual deprivation reversibly affects basic perceptual abilities. The present study investigated the long-lasting effects of short-term visual deprivation on emotion perception. To this aim, we visually deprived a group of young healthy adults, age-matched with a group of non-deprived controls, for 3 hours and tested them before and after visual deprivation (i.e., after 8 h on average and at 4 week follow-up on an audio-visual (i.e., faces and voices emotion discrimination task. To observe changes at the level of basic perceptual skills, we additionally employed a simple audio-visual (i.e., tone bursts and light flashes discrimination task and two unimodal (one auditory and one visual perceptual threshold measures. During the 3 h period, both groups performed a series of auditory tasks. To exclude the possibility that changes in emotion discrimination may emerge as a consequence of the exposure to auditory stimulation during the 3 h stay in the dark, we visually deprived an additional group of age-matched participants who concurrently performed unrelated (i.e., tactile tasks to the later tested abilities. The two visually deprived groups showed enhanced affective prosodic discrimination abilities in the context of incongruent facial expressions following the period of visual deprivation; this effect was partially maintained until follow-up. By contrast, no changes were observed in affective facial expression discrimination and in the basic perception tasks in any group. These findings suggest that short-term visual deprivation per se triggers a reweighting of visual and auditory emotional cues, which seem to possibly prevail for longer durations.

An Age-Related Dissociation of Short-Term Memory for Facial Identity and Facial Emotional Expression.

Science.gov (United States)

Hartley, Alan A; Ravich, Zoe; Stringer, Sarah; Wiley, Katherine

2015-09-01

Memory for both facial emotional expression and facial identity was explored in younger and older adults in 3 experiments using a delayed match-to-sample procedure. Memory sets of 1, 2, or 3 faces were presented, which were followed by a probe after a 3-s retention interval. There was very little difference between younger and older adults in memory for emotional expressions, but memory for identity was substantially impaired in the older adults. Possible explanations for spared memory for emotional expressions include socioemotional selectivity theory as well as the existence of overlapping yet distinct brain networks for processing of different emotions. © The Author 2013. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Estimation of stature using lower limb measurements in Sudanese Arabs.

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Ahmed, Altayeb Abdalla

2013-07-01

The estimation of stature from body parts is one of the most vital parts of personal identification in medico-legal autopsies, especially when mutilated and amputated limbs or body parts are found. The aim of this study was to assess the reliability and accuracy of using lower limb measurements for stature estimations. The stature, tibial length, bimalleolar breadth, foot length and foot breadth of 160 right-handed Sudanese Arab subjects, 80 men and 80 women (25-30 years old), were measured. The reliability of measurement acquisition was tested prior to the primary data collection. The data were analysed using basic univariate analysis and linear and multiple regression analyses. The results showed acceptable standards of measurement errors and reliability. Sex differences were significant for all of the measurements. There was a positive correlation coefficient between lower-limb dimensions and stature (P-value Arabs. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

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Spotila, L.D.; Sereda, L.; Prockop, D.J. (Jefferson Medical College, Philadelphia, PA (United States))

1992-12-01

Uniparental disomy for chromosome 7 has been described previously in two individuals with cystic fibrosis. Here, the authors describe a third case that was discovered because the proband was homozygous for a mutation in the COL1A2 gene for type I procollagen, although his mother was heterozygous and his father did not have the mutation. Phenotypically, the proband was similar to the two previously reported cases with uniparental disomy for chromosome 7, in that he was short in stature and growth retarded. Paternity was assessed with five polymorphic markers. Chromosome 7 inheritance in the proband was analyzed using 12 polymorphic markers distributed along the entire chromosome. Similar analysis of the proband's two brothers established the phase of the alleles at the various loci, assuming minimal recombination. The proband inherited only maternal alleles at five loci and was homozygous at all loci examined, except one. He was heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12. The results suggest that the isodisomy was not complete because of a recombination event involving the proximal short arms of two maternal chromosomes. In addition, the phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7. 42 refs., 5 figs., 3 tabs.

Automatic three-dimensional quantitative analysis for evaluation of facial movement.

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Hontanilla, B; Aubá, C

2008-01-01

The aim of this study is to present a new 3D capture system of facial movements called FACIAL CLIMA. It is an automatic optical motion system that involves placing special reflecting dots on the subject's face and video recording with three infrared-light cameras the subject performing several face movements such as smile, mouth puckering, eye closure and forehead elevation. Images from the cameras are automatically processed with a software program that generates customised information such as 3D data on velocities and areas. The study has been performed in 20 healthy volunteers. The accuracy of the measurement process and the intrarater and interrater reliabilities have been evaluated. Comparison of a known distance and angle with those obtained by FACIAL CLIMA shows that this system is accurate to within 0.13 mm and 0.41 degrees . In conclusion, the accuracy of the FACIAL CLIMA system for evaluation of facial movements is demonstrated and also the high intrarater and interrater reliability. It has advantages with respect to other systems that have been developed for evaluation of facial movements, such as short calibration time, short measuring time, easiness to use and it provides not only distances but also velocities and areas. Thus the FACIAL CLIMA system could be considered as an adequate tool to assess the outcome of facial paralysis reanimation surgery. Thus, patients with facial paralysis could be compared between surgical centres such that effectiveness of facial reanimation operations could be evaluated.

Nineteenth century US African-American and white female statures: Insight from US prison records

OpenAIRE

Carson, Scott A.

2010-01-01

Using a new source of 19th century state prison records, this study contrasts the biological living conditions of comparable US African-American and white female statures during economic development. Black and white female statures varied regionally, and white Southeastern and black Southwestern females reached the tallest statures. White females were consistently taller than black females. Black and white female statures also varied over time with emancipation and were similar to black male ...

Prevalence and etiological profile of short stature among school children in a South Indian population

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Kumaravel Velayutham

2017-01-01

Full Text Available Background and Objectives: Short stature (SS is a common pediatric problem and it might be the first sign of underlying illness. Studies documenting the burden and etiological profile of SS are scarce from India and are mostly limited to data obtained from referral centers. Due to the lack of large-scale, community-based studies utilizing a standard protocol, the present study aimed to assess the prevalence and etiological profile of SS in school children of a South Indian district. Materials and Methods: In this cross-sectional study, children aged 4–16 years from 23 schools in Madurai district, Tamil Nadu, underwent anthropometric measurements and height was plotted in Khadilkar et al. growth chart. The cause of SS was assessed using clinical and laboratory evaluations in assigned children with a height less than third centile. Results: A total of 15644 children belonging to 23 schools were evaluated, and 448 (2.86% children had SS. Etiological evaluation was further performed in 87 randomly assigned children, and it is identified that familial SS or constitutional delay in growth was the most common cause of SS in the study population (66.67%. Hypothyroidism and growth hormone deficiency were the two most common pathological causes of SS seen in 12 (13.79% and 8 (9.20% children, respectively. Malnutrition was the cause of SS in 6 (6.9% children and cardiac disorders, psychogenic SS, and skeletal dysplasia were other identified causes of SS in the study. Interpretation and Conclusions: The overall prevalence of SS in school children was 2.86% and familial SS or constitutional delay in growth was the most common cause of SS. As a significant percentage of children with SS had correctable causes, monitoring growth with a standard growth chart should be mandatory in all schools.

Combined genome scans for body stature in 6,602 European twins

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Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero

2007-01-01

combined and related to the sequence positions using software developed by us, which is publicly available (https://apps.bioinfo.helsinki.fi/software/cartographer.aspx). Variance component linkage analysis was performed with age, sex, and country of origin as covariates. The covariate adjusted heritability....... Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant...

The masculinity paradox: facial masculinity and beardedness interact to determine women's ratings of men's facial attractiveness.

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Dixson, B J W; Sulikowski, D; Gouda-Vossos, A; Rantala, M J; Brooks, R C

2016-11-01

In many species, male secondary sexual traits have evolved via female choice as they confer indirect (i.e. genetic) benefits or direct benefits such as enhanced fertility or survival. In humans, the role of men's characteristically masculine androgen-dependent facial traits in determining men's attractiveness has presented an enduring paradox in studies of human mate preferences. Male-typical facial features such as a pronounced brow ridge and a more robust jawline may signal underlying health, whereas beards may signal men's age and masculine social dominance. However, masculine faces are judged as more attractive for short-term relationships over less masculine faces, whereas beards are judged as more attractive than clean-shaven faces for long-term relationships. Why such divergent effects occur between preferences for two sexually dimorphic traits remains unresolved. In this study, we used computer graphic manipulation to morph male faces varying in facial hair from clean-shaven, light stubble, heavy stubble and full beards to appear more (+25% and +50%) or less (-25% and -50%) masculine. Women (N = 8520) were assigned to treatments wherein they rated these stimuli for physical attractiveness in general, for a short-term liaison or a long-term relationship. Results showed a significant interaction between beardedness and masculinity on attractiveness ratings. Masculinized and, to an even greater extent, feminized faces were less attractive than unmanipulated faces when all were clean-shaven, and stubble and beards dampened the polarizing effects of extreme masculinity and femininity. Relationship context also had effects on ratings, with facial hair enhancing long-term, and not short-term, attractiveness. Effects of facial masculinization appear to have been due to small differences in the relative attractiveness of each masculinity level under the three treatment conditions and not to any change in the order of their attractiveness. Our findings suggest that

Quality of life assessment in facial palsy: validation of the Dutch Facial Clinimetric Evaluation Scale.

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Kleiss, Ingrid J; Beurskens, Carien H G; Stalmeier, Peep F M; Ingels, Koen J A O; Marres, Henri A M

2015-08-01

This study aimed at validating an existing health-related quality of life questionnaire for patients with facial palsy for implementation in the Dutch language and culture. The Facial Clinimetric Evaluation Scale was translated into the Dutch language using a forward-backward translation method. A pilot test with the translated questionnaire was performed in 10 patients with facial palsy and 10 normal subjects. Finally, cross-cultural adaption was accomplished at our outpatient clinic for facial palsy. Analyses for internal consistency, test-retest reliability, construct validity and responsiveness were performed. Ninety-three patients completed the Dutch Facial Clinimetric Evaluation Scale, the Dutch Facial Disability Index, and the Dutch Short Form (36) Health Survey. Cronbach's α, representing internal consistency, was 0.800. Test-retest reliability was shown by an intraclass correlation coefficient of 0.737. Correlations with the House-Brackmann score, Sunnybrook score, Facial Disability Index physical function, and social/well-being function were -0.292, 0.570, 0.713, and 0.575, respectively. The SF-36 domains correlate best with the FaCE social function domain, with the strongest correlation between the both social function domains (r = 0.576). The FaCE score did statistically significantly increase in 35 patients receiving botulinum toxin type A (P = 0.042, Student t test). The domains 'facial comfort' and 'social function' improved statistically significantly as well (P = 0.022 and P = 0.046, respectively, Student t-test). The Dutch Facial Clinimetric Evaluation Scale shows good psychometric values and can be implemented in the management of Dutch-speaking patients with facial palsy in the Netherlands. Translation of the instrument into other languages may lead to widespread use, making evaluation and comparison possible among different providers.

A higher quality of life with cross-face-nerve-grafting as an adjunct to a hypoglossal-facial nerve jump graft in facial palsy treatment

NARCIS (Netherlands)

van Veen, Martinus M.; Dijkstra, Pieter U.; Werker, Paul M. N.

2017-01-01

Nerve reconstructions are the preferred technique for short-standing facial paralysis, most commonly using the contralateral facial nerve or ipsilateral hypoglossal nerve. The hypoglossal nerve provides a strong motor signal, whereas the signal of a cross-face nerve graft is weaker but spontaneous.

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

Energy Technology Data Exchange (ETDEWEB)

Currarino, G; Friedman, J M

1986-09-01

A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis.

Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years.

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Schiedel, Frank; Rödl, Robert

2012-01-01

Parents of children suffering from disproportionate short stature due to achondroplasia may wish to have surgical leg lengthening carried out for the child. The aim is not to increase height, but rather to achieve physiological proportions in the body. In a systematic review of the literature on the topic dating from the last 20 years, the surgical approaches used for this purpose were analyzed in accordance with the Preferred reporting items for systematic reviews and meta-analyses (PRISMA) criteria. Twelve studies show that to date, involvement of the child in decision-making at the start of treatment has been expected and that it is recommended from the age of 12. In highly heterogeneous patient groups, with varying factors involved and different techniques being used, lengthening (often by more than 10 cm) is described. High complication rates are reported, with many setbacks often requiring repeat surgery. Using PALEY'S multiplier method, the expected standing height, sitting height, and leg length can be predicted and an individualized treatment approach can be planned and operative procedures could be started in early childhood as PERETTI suggests. As the patients are unable to be involved in decision-making as young children, these data may provide a basis for offering differentiated advice to parents, who usually consult a pediatric orthopedist at a very early stage in the child's life.

Stature in archeological samples from central Italy: methodological issues and diachronic changes.

Science.gov (United States)

Giannecchini, Monica; Moggi-Cecchi, Jacopo

2008-03-01

Stature reconstructions from skeletal remains are usually obtained through regression equations based on the relationship between height and limb bone length. Different equations have been employed to reconstruct stature in skeletal samples, but this is the first study to provide a systematic analysis of the reliability of the different methods for Italian historical samples. Aims of this article are: 1) to analyze the reliability of different regression methods to estimate stature for populations living in Central Italy from the Iron Age to Medieval times; 2) to search for trends in stature over this time period by applying the most reliable regression method. Long bone measurements were collected from 1,021 individuals (560 males, 461 females), from 66 archeological sites for males and 54 for females. Three time periods were identified: Iron Age, Roman period, and Medieval period. To determine the most appropriate equation to reconstruct stature the Delta parameter of Gini (Memorie di metodologia statistica. Milano: Giuffre A. 1939), in which stature estimates derived from different limb bones are compared, was employed. The equations proposed by Pearson (Philos Trans R Soc London 192 (1899) 169-244) and Trotter and Gleser for Afro-Americans (Am J Phys Anthropol 10 (1952) 463-514; Am J Phys Anthropol 47 (1977) 355-356) provided the most consistent estimates when applied to our sample. We then used the equation by Pearson for further analyses. Results indicate a reduction in stature in the transition from the Iron Age to the Roman period, and a subsequent increase in the transition from the Roman period to the Medieval period. Changes of limb lengths over time were more pronounced in the distal than in the proximal elements in both limbs. 2007 Wiley-Liss, Inc.

Short stature

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... as tall as her parents. Providers call this "constitutional growth delay." If one or both parents are ... about A.D.A.M.'s editorial policy , editorial process and privacy policy . A.D.A.M. is ...

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother

International Nuclear Information System (INIS)

Currarino, G.; Friedman, J.M.

1986-01-01

A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis. (orig.)

Meier-Gorlin syndrome

OpenAIRE

de Munnik, Sonja A; Hoefsloot, Elisabeth H; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F

2015-01-01

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia...

Meier-Gorlin syndrome Clinical genetics and genomics

OpenAIRE

Munnik, Sonja; Hoefsloot, Lies; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine; Brunner, H.G.; Jackson, Andrew; Bongers, Ernie

2015-01-01

textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-...

Noonan syndrome

OpenAIRE

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

2013-01-01

Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

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Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

2014-09-01

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

Loci associated with adult stature also affect calf birth survival in cattle

DEFF Research Database (Denmark)

Sahana, Goutam; Höglund, Johanna; Guldbrandtsen, Bernt

2015-01-01

growth and adult stature in several species. The QTL exhibited large effects on calf size and stature in Nordic Red cattle. Two deviant haplotypes (HAP1 and HAP2) were resolved which increased calf size at birth, and affected adult body conformation. However, the haplotypes also resulted in increased...

Indivíduo do sexo masculino XYY com retorno venoso pulmonar anômalo total e baixa estatura XYY male with total anomalous pulmonary venous return and short stature

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Hiroyuki Nagasawa

2003-02-01

Full Text Available Objetivo: relatar o caso de um neonato masculino 47 XYY com doença cardíaca congênita e baixa estatura. Resultados: este é o primeiro relato de caso de um neonato masculino 47 XYY, pequeno para a idade, com doença cardíaca congênita (retorno venoso pulmonar anômalo total. O neonato nasceu com 32 semanas de gestação e peso de 1.134 g. Uma hemorragia intracraniana e um alto fluxo pulmonar foram descobertos no período neonatal inicial. Havia grande retardo de desenvolvimento neuromotor. A criança recebeu uma ligadura paliativa do ductus arteriosus e a colocação de um shunt ventriculoperitoneal, mas morreu com 19 meses de vida de insuficiência cardíaca. Comentários: esta combinação de menino XYY e doença cardíaca congênita pode ser fortuita. Entretanto, pensamos que é importante relatar que houve este caso de prognóstico pobre de um indivíduo XYY do sexo masculino com doença cardíaca congênita e baixa estatura.Objective: to report a case of a 47 XYY male neonate with congenital heart disease and short stature. Description: this is the first case report of a 47 XYY male neonate associated with congenital heart disease (total anomalous pulmonary venous return and small for gestational age. The infant was born at around 32 weeks of gestation with 1,134g. Intracranial hemorrhage and pulmonary high flow were discovered in the early neonatal period. Retarded physical and mental development was observed. The infant underwent a palliative ligation of the ductus arteriosus and a ventriculoperitoneal shunt operation, but died due to consequent heart failure at 19 months of age. Comments: this combination of XYY male and congenital heart disease may be fortuitous. However, we think it is important to report that there was a poor prognosis case of XYY male with congenital heart disease and short stature.

Metacarpal index in Marfan's syndrome and in constitutional tall stature.

OpenAIRE

Nelle, M; Tröger, J; Rupprath, G; Bettendorf, M

1994-01-01

The metacarpal index (MCI) in 54 children with constitutional tall stature was mean (SD) 8.65 (0.8) and in 55 with Marfan's syndrome 9.15 (0.9). Indices in both groups showed arachnodactyly and differed from those found in normal individuals (< 7.9). Because the MCI is a poor discriminator patients with tall stature or clinical signs of arachnodactyly should be examined for additional signs of Marfan's syndrome or other hereditary disorders of connective tissue.

Stature estimation using the knee height measurement amongst Brazilian elderly

OpenAIRE

Siqueira Fogal, Aline; Franceschini, Sylvia do Carmo Castro; Eloiza Priore, Silvia; Cotta, Rosângela Minardi M.; Queiroz Ribeiro, Andreia

2015-01-01

Introduction: Stature is an important variable in several indices of nutritional status that are applicable to elderly persons. However, stature is difficult or impossible to measure in elderly because they are often unable to maintain the standing position. A alternative is the use of estimated height from measurements of knee height measure. Aims: This study aimed to evaluate the accuracy of the formula proposed by Chumlea et al. (1985) based on the knee of a Caucasian population to estimat...

Temporary and lasting effects of childhood deprivation on male stature. Late adolescent stature and catch-up growth in Woerden (The Netherlands) in the first half of the nineteenth century

NARCIS (Netherlands)

Beekink, E.; Kok, J.

2017-01-01

This paper compares the statures of men during late adolescence, measured at age 19, with the stature in adulthood, measured at age 25, specially focusing on the influences of household situation and family stress. On average, the men studied became five centimeters taller in the interval, but there

Orphan disease: Cherubism, optic atrophy, and short stature

OpenAIRE

Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai

2018-01-01

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism wit...

Deep learning the dynamic appearance and shape of facial action units

OpenAIRE

Jaiswal, Shashank; Valstar, Michel F.

2016-01-01

Spontaneous facial expression recognition under uncontrolled conditions is a hard task. It depends on multiple factors including shape, appearance and dynamics of the facial features, all of which are adversely affected by environmental noise and low intensity signals typical of such conditions. In this work, we present a novel approach to Facial Action Unit detection using a combination of Convolutional and Bi-directional Long Short-Term Memory Neural Networks (CNN-BLSTM), which jointly lear...

Facial nerve mapping and monitoring in lymphatic malformation surgery.

Science.gov (United States)

Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

2009-10-01

Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

Value of pituitary MRI in children with short stat

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Huan ZHOU

2013-11-01

Full Text Available Objective　To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods　The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results　Of the 130 children, 82 cases (63.1% were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9% pituitary morphology and signal manifestation were abnormal, and among them pituitary dysplasia was found in 30 cases, deficiency of bright signals in posterior pituitary lobe was found in 4 cases, in whom pituitary stalk deficiency was found in 2 cases. Pituitary microadenoma was found in 3 cases, and pituitary cystic lesions were found in 6 cases. Suprasellar cistern hernia was found in 4 cases, and empty sella was found in one case. The height of pituitary glands was 3.00-7.00mm in children with normal pituitary morphology and signal manifestation. Conclusion　MRI pituitary examination can clearly display the anatomy and the signal of the pituitary gland, therefore MR imaging is of important value in the diagnosis of the etiology diagnosis, treatment, and prognosis of children with short stature. It should be the preferred examination. DOI: 10.11855/j.issn.0577-7402.2013.11.008

Prognostic significance of electrophysiological tests for facial nerve outcome in vestibular schwannoma surgery.

Science.gov (United States)

van Dinther, J J S; Van Rompaey, V; Somers, T; Zarowski, A; Offeciers, F E

2011-01-01

To assess the prognostic significance of pre-operative electrophysiological tests for facial nerve outcome in vestibular schwannoma surgery. Retrospective study design in a tertiary referral neurology unit. We studied a total of 123 patients with unilateral vestibular schwannoma who underwent microsurgical removal of the lesion. Nine patients were excluded because they had clinically abnormal pre-operative facial function. Pre-operative electrophysiological facial nerve function testing (EPhT) was performed. Short-term (1 month) and long-term (1 year) post-operative clinical facial nerve function were assessed. When pre-operative facial nerve function, evaluated by EPhT, was normal, the outcome from clinical follow-up at 1-month post-operatively was excellent in 78% (i.e. HB I-II) of patients, moderate in 11% (i.e. HB III-IV), and bad in 11% (i.e. HB V-VI). After 1 year, 86% had excellent outcomes, 13% had moderate outcomes, and 1% had bad outcomes. Of all patients with normal clinical facial nerve function, 22% had an abnormal EPhT result and 78% had a normal result. No statistically significant differences could be observed in short-term and long-term post-operative facial function between the groups. In this study, electrophysiological tests were not able to predict facial nerve outcome after vestibular schwannoma surgery. Tumour size remains the best pre-operative prognostic indicator of facial nerve function outcome, i.e. a better outcome in smaller lesions.

Restorative interventions for HIV facial lipoatrophy.

Science.gov (United States)

Carey, Dianne; Liew, Steven; Emery, Sean

2008-01-01

Facial lipoatrophy is a common and distressing manifestation of HIV lipodystrophy. The changes in facial appearance can reduce quality of life, self esteem and antiretroviral adherence. Apart from the modest benefits of thymidine-based nucleoside analog cessation, there are no proven therapies for lipoatrophy. Management of established fat loss can be challenging as restoration of lost fat mass is extremely gradual. Plastic surgery and cosmetic procedures can restore lost facial volume. Both biodegradable and permanent filling agents have been investigated for HIV facial lipoatrophy. Biodegradable products offer a good safety profile, but maintenance of aesthetic benefits necessitates reinjection over time. Although permanent products offer longevity and lower treatment costs, adverse events should they occur can be serious and of long duration. Despite the substantial increase in options for soft-tissue augmentation in recent years, well-performed clinical studies in HIV-infected adults with facial lipoatrophy are scarce, and long-term clinical safety data are lacking. This review will summarize available efficacy and safety data of the biodegradable and permanent agents utilized for soft-tissue augmentation in this population. Difficulties associated with comparing treatment efficacy data, assessment of facial lipoatrophy presence and severity, and measurement of facial fat will be discussed. Available data indicate that in HIV-infected adults, most filling agents have short-term clinically safety, and can provide aesthetic improvement and improve well-being, social functioning and quality of life. However, well-designed studies with objectively assessed endpoints are needed to elucidate optimal treatments for this distressing condition.

A small-world network model of facial emotion recognition.

Science.gov (United States)

Takehara, Takuma; Ochiai, Fumio; Suzuki, Naoto

2016-01-01

Various models have been proposed to increase understanding of the cognitive basis of facial emotions. Despite those efforts, interactions between facial emotions have received minimal attention. If collective behaviours relating to each facial emotion in the comprehensive cognitive system could be assumed, specific facial emotion relationship patterns might emerge. In this study, we demonstrate that the frameworks of complex networks can effectively capture those patterns. We generate 81 facial emotion images (6 prototypes and 75 morphs) and then ask participants to rate degrees of similarity in 3240 facial emotion pairs in a paired comparison task. A facial emotion network constructed on the basis of similarity clearly forms a small-world network, which features an extremely short average network distance and close connectivity. Further, even if two facial emotions have opposing valences, they are connected within only two steps. In addition, we show that intermediary morphs are crucial for maintaining full network integration, whereas prototypes are not at all important. These results suggest the existence of collective behaviours in the cognitive systems of facial emotions and also describe why people can efficiently recognize facial emotions in terms of information transmission and propagation. For comparison, we construct three simulated networks--one based on the categorical model, one based on the dimensional model, and one random network. The results reveal that small-world connectivity in facial emotion networks is apparently different from those networks, suggesting that a small-world network is the most suitable model for capturing the cognitive basis of facial emotions.

Influence of gravity upon some facial signs.

Science.gov (United States)

Flament, F; Bazin, R; Piot, B

2015-06-01

Facial clinical signs and their integration are the basis of perception than others could have from ourselves, noticeably the age they imagine we are. Facial modifications in motion and their objective measurements before and after application of skin regimen are essential to go further in evaluation capacities to describe efficacy in facial dynamics. Quantification of facial modifications vis à vis gravity will allow us to answer about 'control' of facial shape in daily activities. Standardized photographs of the faces of 30 Caucasian female subjects of various ages (24-73 year) were successively taken at upright and supine positions within a short time interval. All these pictures were therefore reframed - any bias due to facial features was avoided when evaluating one single sign - for clinical quotation by trained experts of several facial signs regarding published standardized photographic scales. For all subjects, the supine position increased facial width but not height, giving a more fuller appearance to the face. More importantly, the supine position changed the severity of facial ageing features (e.g. wrinkles) compared to an upright position and whether these features were attenuated or exacerbated depended on their facial location. Supine station mostly modifies signs of the lower half of the face whereas those of the upper half appear unchanged or slightly accentuated. These changes appear much more marked in the older groups, where some deep labial folds almost vanish. These alterations decreased the perceived ages of the subjects by an average of 3.8 years. Although preliminary, this study suggests that a 90° rotation of the facial skin vis à vis gravity induces rapid rearrangements among which changes in tensional forces within and across the face, motility of interstitial free water among underlying skin tissue and/or alterations of facial Langer lines, likely play a significant role. © 2015 Society of Cosmetic Scientists and the Société Fran

Recognizing Facial Slivers.

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Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

2018-07-01

We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

Growth rates and the prevalence and progression of scoliosis in short-statured children on Australian growth hormone treatment programmes

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McPhee Ian

2007-02-01

Full Text Available Abstract Study design and aim This was a longitudinal chart review of a diverse group (cohort of patients undergoing HGH (Human Growth Hormone treatment. Clinical and radiological examinations were performed with the aim to identify the presence and progression of scoliosis. Methods and cohort 185 patients were recruited and a database incorporating the age at commencement, dose and frequency of growth hormone treatment and growth charts was compiled from their Medical Records. The presence of any known syndrome and the clinical presence of scoliosis were included for analysis. Subsequently, skeletally immature patients identified with scoliosis were followed up over a period of a minimum four years and the radiologic type, progression and severity (Cobb angle of scoliosis were recorded. Results Four (3.6% of the 109 with idiopathic short stature or hormone deficiency had idiopathic scoliosis (within normal limits for a control population and scoliosis progression was not prospectively observed. 13 (28.8% of 45 with Turner syndrome had scoliosis radiologically similar to idiopathic scoliosis. 11 (48% of 23 with varying syndromes, had scoliosis. In the entire cohort, the growth rates of those with and without scoliosis were not statistically different and HGH treatment was not ceased because of progression of scoliosis. Conclusion In this study, there was no evidence of HGH treatment being responsible for progression of scoliosis in a small number of non-syndromic patients (four. An incidental finding was that scoliosis, similar to the idiopathic type, appears to be more prevalent in Turner syndrome than previously believed.

Estimation of stature from different anthropometric measurements in Kori population of North India

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Renu Kamal

2016-12-01

Full Text Available In medico-legal cases, most often the personal identity of the deceased is a mystery. The stature, sex and other parameters in such scenarios are ascertained using the physical evidence present at the crime scene. One of the key methods of ascertaining the sex and stature is by using the human bones. The method of achieving accuracy in estimation of stature from bones has been well established in past. There are several regression formulae for conducting such estimation. However, it must be kept in mind that these regression equations can vary depending upon the population and region. Thus, it is very necessary to study a particular population thoroughly before formulating regression equations for that specific population patch. In this paper, we have penned down the study of KORI POPULATION, who are native to Kanpur region of Uttar Pradesh state, in India. In this study, we have observed the statistics of 202 individuals (106 females and 96 males. In totality, eight bone dimensions including stature, total arm length, length of the middle finger, knee length, foot length, foot breadth, maximum head length and maximum head breadth have been recorded in this research paper. The regression formulae for females and males have been derived separately. Further, there are various parameters that have been compared to find which parameter provides the best results in terms of accuracy in stature estimation.

Stature in 19th and early 20th century Copenhagen. A comparative study based on skeletal remains

DEFF Research Database (Denmark)

Jørkov, Marie Louise S

2015-01-01

Individual stature depends on multifactorial causes and is often used as a proxy for investigating the biological standard of living. While the majority of European studies on 19th and 20th century populations are based on conscript heights, stature derived from skeletal remains are scarce. For t....... Female stature had no significant wealth gradient (p=0.516). This study provides new evidence of stature among males and females during the 19th century and suggests that males may have been more sensitive to changes in environmental living and nutrition than females....

Do IGF-I concentrations better reflect growth hormone (GH action in children with short stature than the results of GH stimulating tests? Evidence from the simultaneous assessment of thyroid function

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Smyczyńska Joanna

2011-01-01

Full Text Available Abstract Background The diagnosis of growth hormone (GH deficiency (GHD in short children seems unquestionable when both GH peak in stimulating tests (GHST and IGF-I concentration are decreased. However, the discrepancies between the results of GHST and IGF-I secretion are observed. It seems purposeful to determine the significance of GHST and IGF-I assessment in diagnosing GHD. The relationship between GH secretion and thyroid function, as well as GH influence on the peripheral thyroxine (T4 to triiodothyronine (T3 deiodination, mediated by IGF-I, were identified. Thus, clear differences in thyroid function between GH-deficient and non-GH-deficient subjects should exist. Methods Analysis comprised 800 children (541 boys, age 11.6 ± 3.1 years (mean ± SD, with short stature, in whom two (2 standard GHST (with clonidine and with glucagon were performed and IGF-I, free T4 (FT4, free T3 (FT3 and TSH serum concentrations were assessed. The patients were qualified to the following groups: GHD - decreased GH peak in GHST and IGF-I SDS (n = 81, ISS - normal GH peak and IGF-I SDS (n = 347, low GH - normal IGF-I SDS, and decreased GH peak (n = 212, low IGF - decreased IGF-I SDS, and normal GH peak (n = 160. The relationships among the results of particular tests were evaluated. Results In the groups with decreased IGF-I concentrations (GHD Group and low IGF Group, the more severe deficit of height was observed, together with higher TSH and FT4 but lower FT3 levels than in groups with normal IGF-I concentrations (ISS Group and low GH Group, independently of the results of GHST. TSH, FT4 and FT3 concentrations were - respectively - similar in two groups with decreased IGF-I secretion, as well as in two groups with normal IGF-I levels. Significant correlations were found between patients' height SDS and IGF-I SDS, between FT3 and IGF-I SDS (positive, and between FT4 and IGF-I SDS (negative, with no correlation between GH peak and any of the parameters

Toward a universal, automated facial measurement tool in facial reanimation.

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Hadlock, Tessa A; Urban, Luke S

2012-01-01

To describe a highly quantitative facial function-measuring tool that yields accurate, objective measures of facial position in significantly less time than existing methods. Facial Assessment by Computer Evaluation (FACE) software was designed for facial analysis. Outputs report the static facial landmark positions and dynamic facial movements relevant in facial reanimation. Fifty individuals underwent facial movement analysis using Photoshop-based measurements and the new software; comparisons of agreement and efficiency were made. Comparisons were made between individuals with normal facial animation and patients with paralysis to gauge sensitivity to abnormal movements. Facial measurements were matched using FACE software and Photoshop-based measures at rest and during expressions. The automated assessments required significantly less time than Photoshop-based assessments.FACE measurements easily revealed differences between individuals with normal facial animation and patients with facial paralysis. FACE software produces accurate measurements of facial landmarks and facial movements and is sensitive to paralysis. Given its efficiency, it serves as a useful tool in the clinical setting for zonal facial movement analysis in comprehensive facial nerve rehabilitation programs.

Gender identity rather than sexual orientation impacts on facial preferences.

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Ciocca, Giacomo; Limoncin, Erika; Cellerino, Alessandro; Fisher, Alessandra D; Gravina, Giovanni Luca; Carosa, Eleonora; Mollaioli, Daniele; Valenzano, Dario R; Mennucci, Andrea; Bandini, Elisa; Di Stasi, Savino M; Maggi, Mario; Lenzi, Andrea; Jannini, Emmanuele A

2014-10-01

Differences in facial preferences between heterosexual men and women are well documented. It is still a matter of debate, however, how variations in sexual identity/sexual orientation may modify the facial preferences. This study aims to investigate the facial preferences of male-to-female (MtF) individuals with gender dysphoria (GD) and the influence of short-term/long-term relationships on facial preference, in comparison with healthy subjects. Eighteen untreated MtF subjects, 30 heterosexual males, 64 heterosexual females, and 42 homosexual males from university students/staff, at gay events, and in Gender Clinics were shown a composite male or female face. The sexual dimorphism of these pictures was stressed or reduced in a continuous fashion through an open-source morphing program with a sequence of 21 pictures of the same face warped from a feminized to a masculinized shape. An open-source morphing program (gtkmorph) based on the X-Morph algorithm. MtF GD subjects and heterosexual females showed the same pattern of preferences: a clear preference for less dimorphic (more feminized) faces for both short- and long-term relationships. Conversely, both heterosexual and homosexual men selected significantly much more dimorphic faces, showing a preference for hyperfeminized and hypermasculinized faces, respectively. These data show that the facial preferences of MtF GD individuals mirror those of the sex congruent with their gender identity. Conversely, heterosexual males trace the facial preferences of homosexual men, indicating that changes in sexual orientation do not substantially affect preference for the most attractive faces. © 2014 International Society for Sexual Medicine.

Baraitser and Winter syndrome with growth hormone deficiency.

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Chentli, Farida; Zellagui, Hadjer

2014-01-01

Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

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Gupta, Ankur; Khaira, Ambar; Lal, Charanjit; Mahajan, Sandeep; Tiwari, Suresh C

2009-10-01

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

Stature estimation based on vertebral morphometry by dual energy X-rays absorptiometry imaging in Italian females

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Chantal Milani

2017-02-01

Full Text Available Anthropological profile in forensic context includes the assessment of parameters as ancestry, sex, age and stature of an individual by the analysis of skeletal remains. Stature can be estimated from decomposed and fully or partially skeletonized remains by means of anatomical or mathematical methods applied on the whole skeleton or single bones. Many authors calculated regression formulae for the living stature estimation by these methods, in particular based on a population similar to the remains recovered. Long bones are commonly used for stature estimation, but, when they are missing, methods involving different parts of the skeleton are needed. In this preliminary study we measured heights of the vertebral bodies in a female Caucasian Italian population, evaluated by images of morphometric X-ray absorptiometry based on dual-energy X-ray absorptiometry in living subjects investigated for routine diagnostic purposes. Thoracic and lumbar segments of the spine were measured and statistical analysis was performed, thus obtaining regression formulae for estimated living stature from thoraco-lumbar spine segments (T6-T12, L1-L4 and T6-L4. We propose this method for stature evaluation in physical or forensic anthropology when the spine is available and long bones are missing.

The relationship between cadaver, living and forensic stature: A review of current knowledge and a test using a sample of adult Portuguese males.

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Cardoso, Hugo F V; Marinho, Luísa; Albanese, John

2016-01-01

The use of cadaver length and forensic stature as a proxy for living standing height has not been scrutinized in detail. In this paper we present a brief review of the current knowledge on the relationship between cadaver, living and forensic stature; assess the magnitude and nature of the differences between these three measures of stature; and investigate the potential impact of these differences in forensic contexts. The study uses a sample of 84 males who were autopsied in 2008 at the National Institute of Legal Medicine and Forensic Sciences (Porto, Portugal), where stature data were collected from three different sources: cadaver stature was obtained from the corpse prior to autopsy, living stature was obtained from military conscription records and forensic stature was obtained from national citizenship identification card records. Descriptive statistics, ANOVA and linear regression are used to analyze the data. The results show that cadaver stature is the highest measure, followed by forensic and by living stature, and the difference between cadaver and living stature is greater than expected (4.3cm). Results also show considerable individual variation in the differences between the three measures of stature and that differences decrease with stature, although only slightly. This study has shown that the difference between cadaver and living stature is greater than previously thought and suggests that previously reported correction factors are a minimum rather than a mean correction. Forensic stature is likely to be incorrectly estimated and can jeopardize identification if methods estimate living rather than forensic stature. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

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Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine; Born, Alfred Peter; Jønson, Lars; Duno, Morten; Wibrand, Flemming; Shoubridge, Eric A; Vissing, John

2015-03-01

We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis showed an almost complete lack of COX assembly in subject fibroblasts, consistent with the very low enzymatic activity, and pulse-labelling mitochondrial translation experiments showed a specific decrease in synthesis of the COX1 subunit, the core catalytic subunit that nucleates assembly of the holoenzyme. Whole exome sequencing identified compound heterozygous mutations (c.199dupC, c.215A>G) in COA3, a small inner membrane COX assembly factor, resulting in a pronounced decrease in the steady-state levels of COA3 protein. Retroviral expression of a wild-type COA3 cDNA completely rescued the COX assembly and mitochondrial translation defects, confirming the pathogenicity of the mutations, and resulted in increased steady-state levels of COX1 in control cells, demonstrating a role for COA3 in the stabilisation of this subunit. COA3 exists in an early COX assembly complex that contains COX1 and other COX assembly factors including COX14 (C12orf62), another single pass transmembrane protein that also plays a role in coupling COX1 synthesis with holoenzyme assembly. Immunoblot analysis showed that COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors. The mild clinical course in this patient contrasts with nearly all other cases of severe COX assembly defects that are usually fatal early in life, and underscores the marked tissue-specific involvement in mitochondrial diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

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Linglart, A; Cabrol, S; Berlier, P; Stuckens, C; Wagner, K; de Kerdanet, M; Limoni, C; Carel, J-C; Chaussain, J-L

2011-06-01

Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

Stature estimation from body segment lengths in young adults--application to people with physical disabilities.

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Canda, Alicia

2009-03-01

Knowledge of stature is necessary for evaluating nutritional status and for correcting certain functional parameters. Measuring stature is difficult or impossible in bedridden or wheelchair-bound persons and may also be diminished by disorders of the spinal column or extremities. The purpose of this work is to develop estimation equations for young adult athletes for their subsequent application to disabled persons. The main sample comprised 445 male and 401 female sportspersons. Cross validation was also performed on 100 males and 101 females. All were Caucasian, the males being over 21 and the females over 18, and all practiced some kind of sport. The following variables were included: stature, sitting height, arm span, and lengths of upper arm, forearm, hand, thigh, lower leg, and foot. Simple and multiple regression analyses were performed using stature as a dependent variable and the others as predictive variables. The best equation for males (R(2)=0.978; RMSE=1.41 cm; PE=1.54 cm) was stature: 1.346+1.023 * lower leg+0.957 * sitting height+0.530 * thigh+0.493 * upper arm+0.228 * forearm. For females (R(2)=0.959; RMSE=1.57 cm; PE=1.25 cm) it was stature: 1.772+0.159 * arm span+0.957 * sitting height+0.424 * thigh+0.966 * lower leg. Alternative equations were developed for when a particular variable cannot be included for reasons of mobility, technical difficulty, or segment loss.

Sound-induced facial synkinesis following facial nerve paralysis

NARCIS (Netherlands)

Ma, Ming-San; van der Hoeven, Johannes H.; Nicolai, Jean-Philippe A.; Meek, Marcel F.

Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two

Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

Science.gov (United States)

Ozono, Keiichi; Ogata, Tsutomu; Horikawa, Reiko; Matsubara, Yoichi; Ogawa, Yoshihisa; Nishijima, Keiji; Yokoya, Susumu

2018-02-26

This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin ® (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model. Baseline HSDS was -3.24. Estimated change in HSDS [95% CI] after 104 weeks' treatment was 0.84 [0.66, 1.02] and 1.47 [1.29, 1.64] for the lower and higher doses, respectively; estimated mean difference 0.63 [0.38, 0.88], p Noonan syndrome, with a favorable safety profile. The effect was greater with 0.066 mg/kg/day compared with 0.033 mg/kg/day.

Ellis-van Creveld syndrome with facial hemiatrophy

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Bhat Yasmeen

2010-01-01

Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

The history of injectable facial fillers.

Science.gov (United States)

Kontis, Theda C; Rivkin, Alexander

2009-05-01

In an attempt to maintain a youthful appearance or to reconstruct facial deformities, physicians have greeted new technologies with excitement. In the late 1800 s, shortly after the invention of the syringe, chemical agents were used for facial augmentation. Unfortunately, history has taught us that new technologies must be used with care, because complications can occur, sometimes many years after initial treatment. The first injectable filling agent was paraffin, whose use was abandoned after complications of migration, embolization, and granuloma formation were described. More recently, silicone use was banned by the U.S. Food and Drug Administration (FDA) because of similar complications. In 1981, bovine collagen was the first agent to be approved by the FDA for cosmetic injection. Since its approval, dozens of injectable filling agents have been developed, and many are already FDA approved for cosmetic use. This article will review the highlights of the evolution of facial filling agents.

Sound-induced facial synkinesis following facial nerve paralysis.

Science.gov (United States)

Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

2009-08-01

Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

Facial dynamics and emotional expressions in facial aging treatments.

Science.gov (United States)

Michaud, Thierry; Gassia, Véronique; Belhaouari, Lakhdar

2015-03-01

Facial expressions convey emotions that form the foundation of interpersonal relationships, and many of these emotions promote and regulate our social linkages. Hence, the facial aging symptomatological analysis and the treatment plan must of necessity include knowledge of the facial dynamics and the emotional expressions of the face. This approach aims to more closely meet patients' expectations of natural-looking results, by correcting age-related negative expressions while observing the emotional language of the face. This article will successively describe patients' expectations, the role of facial expressions in relational dynamics, the relationship between facial structures and facial expressions, and the way facial aging mimics negative expressions. Eventually, therapeutic implications for facial aging treatment will be addressed. © 2015 Wiley Periodicals, Inc.

Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice.

Science.gov (United States)

Li, Xihai; Liang, Wenna; Ye, Hongzhi; Weng, Xiaping; Liu, Fayuan; Lin, Pingdong; Liu, Xianxiang

2015-09-01

The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild‑type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression‑associated congenital dysplasia of the TMJ in mice.

Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.

Science.gov (United States)

Hirschfeldova, Katerina; Solc, Roman

2017-09-05

The effect of heterozygous duplications of SHOX and associated elements on Lėri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions. The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients. A preliminary analysis conducted on Czech population sample of 250 individuals compared to our previously reported sample of 352 ISS/LWD Czech patients indicated that rather than the difference in frequency of duplications it is the difference in their distribution. Particularly, there was an increased frequency of duplications residing to the CNE-9 enhancer in our LWD/ISS sample. To see whether the obtained data are consistent across published studies we made a literature survey to get published cases with SHOX or associated elements duplication and formed the merged LWD, the merged ISS, and the merged population samples. Relative frequency of particular region duplication in each of those merged samples were calculated. There was a significant difference in the relative frequency of CNE-9 enhancer duplications (11 vs. 3) and complete SHOX (exon1-6b) duplications (4 vs. 24) (p-value 0.0139 and p-value 0.000014, respectively) between the merged LWD sample and the merged population sample. We thus propose that partial SHOX duplications and small duplications encompassing CNE-9 enhancer could be highly penetrant alleles associated with ISS and LWD development. Copyright © 2017 Elsevier B.V. All rights reserved.

Psychological and emotional development, intellectual capabilities, and body image in short normal children.

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Molinari, E; Sartori, A; Ceccarelli, A; Marchi, S

2002-04-01

It is well established that children with short stature frequently have problems in cognitive development, personality, self-esteem and social relations. This is partly due to the fact that many parents view them as more vulnerable than other children of normal stature and do not allow them to face the normal experiences that correspond to their actual age. The aim of the present study was to assess, through the administration of appropriate psychological tools, a series of psychological and cognitive characteristics [i.e. anxiety, depression, good adjustment, social functioning, feeling of guilt, interpersonal relationship, intelligence quotient (IQ)], as well as variables linked to development of body image, in a group of children suffering from normal growth variants [familial short stature (FSS), no. 10, 4 males/6 females; with constitutional growth delay (CGD), no. 4,4 males; height standard deviation score (HSDS) ranging between -2.4 and -1.9] and in a control group children of normal stature (HSDS between -0.1 and +0.1). Children with short stature significantly differed from normal statured controls as far as Colored Progressive Matrices (CPMs, centiles), IQ (IQ, obtained using the Goodenough test), "Good Adjustment" (Draw-a-Person index, DAP), "Feelings of Guilt" (DAP index), "Height" (as emerges from drawings of the body) are concerned. Significant relationships were found between the height of the subjects (in centiles) and cognitive skills, measured both using CPMs (r=0.408; p=0.017) and Draw-a-Man (DAM) (r=0.359; p=0.037) and between height and feelings of guilt (r=0.325; p=0.027), measured using DAP. CPM scores correlated positively with the "Good Adjustment" index of DAP (r=0.354; p=0.05) and negatively with Children's Depression Inventory (CDI) (r=-0.609; p=0.01), "School Anxiety" index (r=-0.427; p=0.05) and "Total Anxiety" index (r=-0.436; p=0.05) of the Anxiety Scale Questionnaire for the Age of Development, and with 2 indices of DAP, namely

Visual Working Memory Capacity for Emotional Facial Expressions

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Domagoj Švegar

2011-12-01

Full Text Available The capacity of visual working memory is limited to no more than four items. At the same time, it is limited not only by the number of objects, but also by the total amount of information that needs to be memorized, and the relation between the information load per object and the number of objects that can be stored into visual working memory is inverse. The objective of the present experiment was to compute visual working memory capacity for emotional facial expressions, and in order to do so, change detection tasks were applied. Pictures of human emotional facial expressions were presented to 24 participants in 1008 experimental trials, each of which began with a presentation of a fixation mark, which was followed by a short simultaneous presentation of six emotional facial expressions. After that, a blank screen was presented, and after such inter-stimulus interval, one facial expression was presented at one of previously occupied locations. Participants had to answer if the facial expression presented at test is different or identical as the expression presented at that same location before the retention interval. Memory capacity was estimated through accuracy of responding, by the formula constructed by Pashler (1988, adopted from signal detection theory. It was found that visual working memory capacity for emotional facial expressions equals 3.07, which is high compared to capacity for facial identities and other visual stimuli. The obtained results were explained within the framework of evolutionary psychology.

Facilitation or disengagement? Attention bias in facial affect processing after short-term violent video game exposure.

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Yanling Liu

Full Text Available Previous research has been inconsistent on whether violent video games exert positive and/or negative effects on cognition. In particular, attentional bias in facial affect processing after violent video game exposure continues to be controversial. The aim of the present study was to investigate attentional bias in facial recognition after short term exposure to violent video games and to characterize the neural correlates of this effect. In order to accomplish this, participants were exposed to either neutral or violent video games for 25 min and then event-related potentials (ERPs were recorded during two emotional search tasks. The first search task assessed attentional facilitation, in which participants were required to identify an emotional face from a crowd of neutral faces. In contrast, the second task measured disengagement, in which participants were required to identify a neutral face from a crowd of emotional faces. Our results found a significant presence of the ERP component, N2pc, during the facilitation task; however, no differences were observed between the two video game groups. This finding does not support a link between attentional facilitation and violent video game exposure. Comparatively, during the disengagement task, N2pc responses were not observed when participants viewed happy faces following violent video game exposure; however, a weak N2pc response was observed after neutral video game exposure. These results provided only inconsistent support for the disengagement hypothesis, suggesting that participants found it difficult to separate a neutral face from a crowd of emotional faces.

Facilitation or disengagement? Attention bias in facial affect processing after short-term violent video game exposure.

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Liu, Yanling; Lan, Haiying; Teng, Zhaojun; Guo, Cheng; Yao, Dezhong

2017-01-01

Previous research has been inconsistent on whether violent video games exert positive and/or negative effects on cognition. In particular, attentional bias in facial affect processing after violent video game exposure continues to be controversial. The aim of the present study was to investigate attentional bias in facial recognition after short term exposure to violent video games and to characterize the neural correlates of this effect. In order to accomplish this, participants were exposed to either neutral or violent video games for 25 min and then event-related potentials (ERPs) were recorded during two emotional search tasks. The first search task assessed attentional facilitation, in which participants were required to identify an emotional face from a crowd of neutral faces. In contrast, the second task measured disengagement, in which participants were required to identify a neutral face from a crowd of emotional faces. Our results found a significant presence of the ERP component, N2pc, during the facilitation task; however, no differences were observed between the two video game groups. This finding does not support a link between attentional facilitation and violent video game exposure. Comparatively, during the disengagement task, N2pc responses were not observed when participants viewed happy faces following violent video game exposure; however, a weak N2pc response was observed after neutral video game exposure. These results provided only inconsistent support for the disengagement hypothesis, suggesting that participants found it difficult to separate a neutral face from a crowd of emotional faces.

Facilitation or disengagement? Attention bias in facial affect processing after short-term violent video game exposure

Science.gov (United States)

Liu, Yanling; Lan, Haiying; Teng, Zhaojun; Guo, Cheng; Yao, Dezhong

2017-01-01

Previous research has been inconsistent on whether violent video games exert positive and/or negative effects on cognition. In particular, attentional bias in facial affect processing after violent video game exposure continues to be controversial. The aim of the present study was to investigate attentional bias in facial recognition after short term exposure to violent video games and to characterize the neural correlates of this effect. In order to accomplish this, participants were exposed to either neutral or violent video games for 25 min and then event-related potentials (ERPs) were recorded during two emotional search tasks. The first search task assessed attentional facilitation, in which participants were required to identify an emotional face from a crowd of neutral faces. In contrast, the second task measured disengagement, in which participants were required to identify a neutral face from a crowd of emotional faces. Our results found a significant presence of the ERP component, N2pc, during the facilitation task; however, no differences were observed between the two video game groups. This finding does not support a link between attentional facilitation and violent video game exposure. Comparatively, during the disengagement task, N2pc responses were not observed when participants viewed happy faces following violent video game exposure; however, a weak N2pc response was observed after neutral video game exposure. These results provided only inconsistent support for the disengagement hypothesis, suggesting that participants found it difficult to separate a neutral face from a crowd of emotional faces. PMID:28249033

Estimation of stature from hand and foot dimensions in a Korean population.

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Kim, Wonjoon; Kim, Yong Min; Yun, Myung Hwan

2018-04-01

The estimation of stature using foot and hand dimensions is essential in the process of personal identification. The shapes of feet and hands vary depending on races and gender, and it is of great importance to design an adequate equation in consideration of variances to estimate stature. This study is based on a total of 5,195 South Korean males and females, aged from 20 to 59 years. Body dimensions of stature, hand length, hand breadth, foot length, and foot breadth were measured according to standard anthropometric procedures. The independent t-test was performed in order to verify significant gender-induced differences and the results showed that there was significant difference between males and females for all the foot-hand dimensions (pfoot length showed highest correlation, whereas the hand breadth showed least correlation. The stepwise regression analysis was conducted, and the results showed that males had the highest prediction accuracy in the regression equation consisting of foot length and hand length (R 2 =0.532), whereas females had the highest accuracy in the regression model consisting of foot length and hand breadth (R 2 =0.437) The findings of this study indicated that hand and foot dimensions can be used to predict the stature of South Korean in the forensic science field. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

DEFF Research Database (Denmark)

Krab Henningsen, Marie; Jelsig, Anne Marie; Andersen, Helle

2015-01-01

Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short...... stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies....

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

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Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

2015-08-03

Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

Traumatic facial nerve neuroma with facial palsy presenting in infancy.

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Clark, James H; Burger, Peter C; Boahene, Derek Kofi; Niparko, John K

2010-07-01

To describe the management of traumatic neuroma of the facial nerve in a child and literature review. Sixteen-month-old male subject. Radiological imaging and surgery. Facial nerve function. The patient presented at 16 months with a right facial palsy and was found to have a right facial nerve traumatic neuroma. A transmastoid, middle fossa resection of the right facial nerve lesion was undertaken with a successful facial nerve-to-hypoglossal nerve anastomosis. The facial palsy improved postoperatively. A traumatic neuroma should be considered in an infant who presents with facial palsy, even in the absence of an obvious history of trauma. The treatment of such lesion is complex in any age group but especially in young children. Symptoms, age, lesion size, growth rate, and facial nerve function determine the appropriate management.

Judgments of facial attractiveness as a combination of facial parts information over time: Social and aesthetic factors.

Science.gov (United States)

Saegusa, Chihiro; Watanabe, Katsumi

2016-02-01

Facial attractiveness can be judged on the basis of visual information acquired in a very short duration, but the absolute level of attractiveness changes depending on the duration of the observation. However, how information from individual facial parts contributes to the judgment of whole-face attractiveness is unknown. In the current study, we examined how contributions of facial parts to the judgment of whole-face attractiveness would change over time. In separate sessions, participants evaluated the attractiveness of whole faces, as well as of the eyes, nose, and mouth after observing them for 20, 100, and 1,000 ms. Correlation and multiple regression analyses indicated that the eyes made a consistently high contribution to whole-face attractiveness, even with an observation duration of 20 ms, whereas the contribution of other facial parts increased as the observation duration grew longer. When the eyes were averted, the attractiveness ratings for the whole face were decreased marginally. In addition, the contribution advantage of the eyes at the 20-ms observation duration was diminished. We interpret these results to indicate that (a) eye gaze signals social attractiveness at the early stage (perhaps in combination with emotional expression), (b) other facial parts start contributing to the judgment of whole-face attractiveness by forming aesthetic attractiveness, and (c) there is a dynamic interplay between social and aesthetic attractiveness. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Colesteatoma causando paralisia facial Cholesteatoma causing facial paralysis

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José Ricardo Gurgel Testa

2003-10-01

Full Text Available A paralisia facial causada pelo colesteatoma é pouco freqüente. As porções do nervo mais acometidas são a timpânica e a região do 2º joelho. Nos casos de disseminação da lesão colesteatomatosa para o epitímpano anterior, o gânglio geniculado é o segmento do nervo facial mais sujeito à injúria. A etiopatogenia pode estar ligada à compressão do nervo pelo colesteatoma seguida de diminuição do seu suprimento vascular como também pela possível ação de substâncias neurotóxicas produzidas pela matriz do tumor ou pelas bactérias nele contidas. OBJETIVO: Avaliar a incidência, as características clínicas e o tratamento da paralisia facial decorrente da lesão colesteatomatosa. FORMA DE ESTUDO: Clínico retrospectivo. MATERIAL E MÉTODO: Estudo retrospectivo envolvendo dez casos de paralisia facial por colesteatoma selecionados através de levantamento de 206 descompressões do nervo facial com diferentes etiologias, realizadas na UNIFESP-EPM nos últimos dez anos. RESULTADOS: A incidência de paralisia facial por colesteatoma neste estudo foi de 4,85%,com predominância do sexo feminino (60%. A idade média dos pacientes foi de 39 anos. A duração e o grau da paralisia (inicial juntamente com a extensão da lesão foram importantes em relação à recuperação funcional do nervo facial. CONCLUSÃO: O tratamento cirúrgico precoce é fundamental para que ocorra um resultado funcional mais adequado. Nos casos de ruptura ou intensa fibrose do tecido nervoso, o enxerto de nervo (auricular magno/sural e/ou a anastomose hipoglosso-facial podem ser sugeridas.Facial paralysis caused by cholesteatoma is uncommon. The portions most frequently involved are horizontal (tympanic and second genu segments. When cholesteatomas extend over the anterior epitympanic space, the facial nerve is placed in jeopardy in the region of the geniculate ganglion. The aetiology can be related to compression of the nerve followed by impairment of its

Size Matters Stature Is Related to Diagnoses of Depression in Young Military Men

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Valery Krupnik

2014-07-01

Full Text Available Evolutionary theories suggest that depression has evolved as an adaptation to insurmountable adversity or defeat. One prediction stemming from these models is that individual attributes associated with defeat in a given social environment could be risk factors for depression. We hypothesized that in young military men, where physical prowess was important, short stature might constitute a risk of depression and that this risk would be specific to depression and not to other prevalent mental disorders such as anxiety. A preliminary analysis of the diagnostic profile of a sample of male military personnel treated for mental health indicates that men both shorter and taller than average by 1 standard deviation may be predisposed to higher rates of depressive but not anxiety disorders. Practical and theoretical implications of our findings are discussed.

Long-term psychological functioning of adults with severe congenital facial disfigurement.

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Versnel, Sarah L; Plomp, Raul G; Passchier, Jan; Duivenvoorden, Hugo J; Mathijssen, Irene M J

2012-01-01

In adults with severe congenital facial disfigurement, assessment of long-term psychological impact remains limited. This study determines the long-term psychological functioning in these patients and evaluates differences compared with patients with acquired facial disfigurement and a non-facially disfigured reference group. Also explored is the extent to which psychological functioning of the congenital group is related to satisfaction with facial appearance, fear of negative appearance evaluation by others, self-esteem, and severity of the facial deformity. Fifty-nine adults with severe congenital facial disfigurement, 59 adults with a traumatically acquired facial deformity in adulthood, and 120 non-facially disfigured adults completed standardized psychological, physical, and demographic questionnaires, including the Fear of Negative Appearance Evaluation Scale, the Rosenberg Self-Esteem Scale, the Hospital Anxiety and Depression Scale, the Achenbach Adult Self-Report, the 36-Item Short-Form Health Survey, and a visual analogue scale. Adults with severe congenital facial disfigurement had relatively normal psychological functioning but appeared more prone to internalizing problems than the non-facially disfigured adults. Compared with patients with an acquired facial deformity, the congenital group displayed fewer problems on the physical component score of quality of life only. Satisfaction with facial appearance, fear of negative appearance evaluation, and self-esteem were good predictors of the different aspects of psychological functioning, with the exception of the physical component score of quality of life. Improving satisfaction with facial appearance (by surgery), enhancing self-esteem, or lowering fear of negative appearance evaluation (by psychological support) may enhance long-term psychological functioning. Future research should focus on the individual patient and risk factors for maladjustment. Risk, II.

Estimation of stature from the foot and its segments in a sub-adult female population of North India

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Krishan Kewal

2011-11-01

Full Text Available Abstract Background Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. Methods The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively, foot breadth at ball (BBAL and foot breadth at heel (BHEL were measured on both feet in each participant using standard methods and techniques. Results The results indicated that statistically significant differences (p p-value Conclusions The present study concluded that foot measurements have a strong relationship with stature in the sub-adult female population of North India. Hence, the stature of an individual can be successfully estimated from the foot and its segments using different regression models derived in the study. The regression models derived in the study may be applied successfully for the estimation of stature in sub-adult females, whenever foot remains are brought for forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults.

Head-body ratio as a visual cue for stature in people and sculptural art.

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Mather, George

2010-01-01

Body size is crucial for determining the outcome of competition for resources and mates. Many species use acoustic cues to measure caller body size. Vision is the pre-eminent sense for humans, but visual depth cues are of limited utility in judgments of absolute body size. The reliability of internal body proportion as a potential cue to stature was assessed with a large sample of anthropometric data, and the ratio of head height to body height (HBR) was found to be highly correlated with stature. A psychophysical experiment was carried out to investigate whether the cue actually influences stature judgments. Participants were shown pairs of photographs of human figures in which HBR had been manipulated systematically, and asked to select the figure that appeared taller. Results showed that figures with a relatively small HBR were consistently perceived as taller than figures with a relatively large HBR. Many classical statues such as Michelangelo's David depart from the classical proportions defined in Leonardo's Vitruvian Man. A supplementary experiment showed that perceived stature in classical statues also depends on HBR. Michelangelo's David was created with the HBR of a man 165 cm (5 ft 5 in) tall.

Shared Genetic Architecture in the Relationship between Adult Stature and Subclinical Coronary Artery Atherosclerosis

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Cassidy-Bushrow, Andrea E.; Bielak, Lawrence F.; Sheedy, Patrick F.; Turner, Stephen T.; Chu, Julia S.; Peyser, Patricia A.

2011-01-01

Background Short stature is associated with increased risk of coronary heart disease (CHD); although the mechanisms for this relationship are unknown, shared genetic factors have been proposed. Subclinical atherosclerosis, measured by coronary artery calcification (CAC), is associated with CHD events and represents part of the biological continuum to overt CHD. Many molecular mechanisms of CAC development are shared with bone growth. Thus, we examined whether there was evidence of shared genes (pleiotropy) between adult stature and CAC. Methods 877 asymptomatic white adults (46% men) from 625 families in a community-based sample had computed tomography measures of CAC. Pleiotropy between height and CAC was determined using maximum-likelihood estimation implemented in SOLAR. Results Adult height was significantly and inversely associated with CAC score (P=0.01). After adjusting for age, sex, and CHD risk factors, the estimated genetic correlation between height and CAC score was -0.37 and was significantly different than 0 (P=0.001) and -1 (P<0.001). The environmental correlation between height and CAC score was 0.60 and was significantly different than 0 (P=0.024). Conclusions Further studies of shared genetic factors between height and CAC may provide important insight into the complex genetic architecture of CHD, in part through increased understanding of the molecular pathways underlying the process of both normal growth and disease development. Bivariate genetic linkage analysis may provide a powerful mechanism for identifying specific genomic regions associated with both height and CAC. PMID:21937044

Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice

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LI, XIHAI; LIANG, WENNA; YE, HONGZHI; WENG, XIAPING; LIU, FAYUAN; LIN, PINGDONG; LIU, XIANXIANG

2015-01-01

The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild-type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression-associated congenital dysplasia of the TMJ in mice. PMID:26096903

A combined morphometric analysis of foot form and its association with sex, stature, and body mass.

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Domjanic, Jacqueline; Seidler, Horst; Mitteroecker, Philipp

2015-08-01

Morphometric analysis of footprints is a classic means for orthopedic diagnosis. In forensics and physical anthropology, it is commonly used for the estimation of stature and body mass. We studied individual variation and sexual dimorphism of foot dimensions and footprint shape by a combination of classic foot measurements and geometric morphometric methods. Left and right feet of 134 healthy adult males and females were scanned twice with a 3D optical laser scanner, and stature as well as body mass were recorded. Foot length and width were measured on the 3D scans. The 2D footprints were extracted as the plantar-most 2 mm of the 3D scans and measured with 85 landmarks and semilandmarks. Both foot size and footprint shape are sexually dimorphic and relate to stature and body mass. While dimorphism in foot length largely results from dimorphism in stature, dimorphism in footprint shape partly owes to the dimorphism in BMI. Stature could be estimated well based on foot length (R(2)  = 0.76), whereas body mass was more closely related to foot width (R(2)  = 0.62). Sex could be estimated correctly for 95% of the individuals based on a combination of foot width and length. Geometric morphometrics proved to be an effective tool for the detailed analysis of footprint shape. However, for the estimation of stature, body mass, and sex, shape variables did not considerably improve estimates based on foot length and width. © 2015 Wiley Periodicals, Inc.

Stature estimation equations for South Asian skeletons based on DXA scans of contemporary adults.

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Pomeroy, Emma; Mushrif-Tripathy, Veena; Wells, Jonathan C K; Kulkarni, Bharati; Kinra, Sanjay; Stock, Jay T

2018-05-03

Stature estimation from the skeleton is a classic anthropological problem, and recent years have seen the proliferation of population-specific regression equations. Many rely on the anatomical reconstruction of stature from archaeological skeletons to derive regression equations based on long bone lengths, but this requires a collection with very good preservation. In some regions, for example, South Asia, typical environmental conditions preclude the sufficient preservation of skeletal remains. Large-scale epidemiological studies that include medical imaging of the skeleton by techniques such as dual-energy X-ray absorptiometry (DXA) offer new potential datasets for developing such equations. We derived estimation equations based on known height and bone lengths measured from DXA scans from the Andhra Pradesh Children and Parents Study (Hyderabad, India). Given debates on the most appropriate regression model to use, multiple methods were compared, and the performance of the equations was tested on a published skeletal dataset of individuals with known stature. The equations have standard errors of estimates and prediction errors similar to those derived using anatomical reconstruction or from cadaveric datasets. As measured by the number of significant differences between true and estimated stature, and the prediction errors, the new equations perform as well as, and generally better than, published equations commonly used on South Asian skeletons or based on Indian cadaveric datasets. This study demonstrates the utility of DXA scans as a data source for developing stature estimation equations and offer a new set of equations for use with South Asian datasets. © 2018 Wiley Periodicals, Inc.

The role of great auricular-facial nerve neurorrhaphy in facial nerve damage.

Science.gov (United States)

Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

2015-01-01

Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh.

MRI of the facial nerve in idiopathic facial palsy

International Nuclear Information System (INIS)

Saatci, I.; Sahintuerk, F.; Sennaroglu, L.; Boyvat, F.; Guersel, B.; Besim, A.

1996-01-01

The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell's palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

MRI of the facial nerve in idiopathic facial palsy

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Saatci, I. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sahintuerk, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Sennaroglu, L. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Boyvat, F. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Guersel, B. [Dept. of Otolaryngology, Head and Neck Surgery, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey); Besim, A. [Dept. of Radiology, Hacettepe Univ., Hospital Sihhiye, Ankara (Turkey)

1996-10-01

The purpose of this prospective study was to define the enhancement pattern of the facial nerve in idiopathic facial paralysis (Bell`s palsy) on magnetic resonance (MR) imaging with routine doses of gadolinium-DTPA (0.1 mmol/kg). Using 0.5 T imager, 24 patients were examined with a mean interval time of 13.7 days between the onset of symptoms and the MR examination. Contralateral asymptomatic facial nerves constituted the control group and five of the normal facial nerves (20.8%) showed enhancement confined to the geniculate ganglion. Hence, contrast enhancement limited to the geniculate ganglion in the abnormal facial nerve (3 of 24) was referred to a equivocal. Not encountered in any of the normal facial nerves, enhancement of other segments alone or associated with geniculate ganglion enhancement was considered to be abnormal and noted in 70.8% of the symptomatic facial nerves. The most frequently enhancing segments were the geniculate ganglion and the distal intracanalicular segment. (orig.)

Facial paralysis

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... otherwise healthy, facial paralysis is often due to Bell palsy . This is a condition in which the facial ... speech, or occupational therapist. If facial paralysis from Bell palsy lasts for more than 6 to 12 months, ...

ETHNICITY AND INCOME IMPACT ON BMI AND STATURE OF SCHOOL CHILDREN LIVING IN URBAN SOUTHERN MEXICO.

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Mendez, Nina; Barrera-Pérez, The Late Mario; Palma-Solis, Marco; Zavala-Castro, Jorge; Dickinson, Federico; Azcorra, Hugo; Prelip, Michael

2016-03-01

Obesity affects quality of life and increases the risk of morbidity and mortality. Mexico, a middle-income country, has a high prevalence of overweight and obesity among urban children. Merida is the most populated and growing city in southern Mexico with a mixed Mayan and non-Maya population. Local urbanization and access to industrialized foods have impacted the eating habits and physical activity of children, increasing the risk of overweight and obesity. This study aimed to contribute to the existing literature on the global prevalence of overweight and obesity and examined the association of parental income, ethnicity and nutritional status with body mass index (BMI) and height in primary school children in Merida. The heights and weights of 3243 children aged 6-12 from sixteen randomly selected schools in the city were collected between April and December 2012. Multinomial logistic regression models were used to examine differences in the prevalence of BMI and height categories (based on WHO reference values) by ethnicity and income levels. Of the total students, 1648 (50.9%) were overweight or obese. Stunting was found in 227 children (7%), while 755 (23.3%) were defined as having short stature. Combined stunting and overweight/obesity was found in 301 students (9.3%) and twelve (0.4%) were classified as stunted and of low weight. Having two Mayan surnames was inversely associated with having adequate height (OR=0.69, pobese. Overweight, obesity and short stature were frequent among the studied children. A significant proportion of Meridan children could face an increased risk of developing cardiovascular disease and its associated negative economic and social outcomes unless healthier habits are adopted. Action is needed to reduce the prevalence of obesity among southern Mexican families of all ethnic groups, particularly those of lower income.

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance

Noonan Syndrome and Stroke: A Case Report

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Ebru Nur Mıhçı

2012-03-01

Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

Facial Sports Injuries

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... Marketplace Find an ENT Doctor Near You Facial Sports Injuries Facial Sports Injuries Patient Health Information News ... should receive immediate medical attention. Prevention Of Facial Sports Injuries The best way to treat facial sports ...

Facial Cosmetic Surgery

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... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ... to find out more. Facial Cosmetic Surgery Facial Cosmetic Surgery Extensive education and training in surgical procedures ...

Effect of a Facial Muscle Exercise Device on Facial Rejuvenation.

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Hwang, Ui-Jae; Kwon, Oh-Yun; Jung, Sung-Hoon; Ahn, Sun-Hee; Gwak, Gyeong-Tae

2018-01-20

The efficacy of facial muscle exercises (FMEs) for facial rejuvenation is controversial. In the majority of previous studies, nonquantitative assessment tools were used to assess the benefits of FMEs. This study examined the effectiveness of FMEs using a Pao (MTG, Nagoya, Japan) device to quantify facial rejuvenation. Fifty females were asked to perform FMEs using a Pao device for 30 seconds twice a day for 8 weeks. Facial muscle thickness and cross-sectional area were measured sonographically. Facial surface distance, surface area, and volumes were determined using a laser scanning system before and after FME. Facial muscle thickness, cross-sectional area, midfacial surface distances, jawline surface distance, and lower facial surface area and volume were compared bilaterally before and after FME using a paired Student t test. The cross-sectional areas of the zygomaticus major and digastric muscles increased significantly (right: P jawline surface distances (right: P = 0.004, left: P = 0.003) decreased significantly after FME using the Pao device. The lower facial surface areas (right: P = 0.005, left: P = 0.006) and volumes (right: P = 0.001, left: P = 0.002) were also significantly reduced after FME using the Pao device. FME using the Pao device can increase facial muscle thickness and cross-sectional area, thus contributing to facial rejuvenation. © 2018 The American Society for Aesthetic Plastic Surgery, Inc.

An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

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Sheena Sharma

2016-01-01

Full Text Available Background. Oral-facial-digital syndrome type 1 (OFD1 is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1 gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males. Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del. Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor. Conclusions. We present a male patient with OFD1 mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.

Facial Fractures.

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Ricketts, Sophie; Gill, Hameet S; Fialkov, Jeffery A; Matic, Damir B; Antonyshyn, Oleh M

2016-02-01

After reading this article, the participant should be able to: 1. Demonstrate an understanding of some of the changes in aspects of facial fracture management. 2. Assess a patient presenting with facial fractures. 3. Understand indications and timing of surgery. 4. Recognize exposures of the craniomaxillofacial skeleton. 5. Identify methods for repair of typical facial fracture patterns. 6. Discuss the common complications seen with facial fractures. Restoration of the facial skeleton and associated soft tissues after trauma involves accurate clinical and radiologic assessment to effectively plan a management approach for these injuries. When surgical intervention is necessary, timing, exposure, sequencing, and execution of repair are all integral to achieving the best long-term outcomes for these patients.

The Prevalence of Cosmetic Facial Plastic Procedures among Facial Plastic Surgeons.

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Moayer, Roxana; Sand, Jordan P; Han, Albert; Nabili, Vishad; Keller, Gregory S

2018-04-01

This is the first study to report on the prevalence of cosmetic facial plastic surgery use among facial plastic surgeons. The aim of this study is to determine the frequency with which facial plastic surgeons have cosmetic procedures themselves. A secondary aim is to determine whether trends in usage of cosmetic facial procedures among facial plastic surgeons are similar to that of nonsurgeons. The study design was an anonymous, five-question, Internet survey distributed via email set in a single academic institution. Board-certified members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) were included in this study. Self-reported history of cosmetic facial plastic surgery or minimally invasive procedures were recorded. The survey also queried participants for demographic data. A total of 216 members of the AAFPRS responded to the questionnaire. Ninety percent of respondents were male ( n  = 192) and 10.3% were female ( n  = 22). Thirty-three percent of respondents were aged 31 to 40 years ( n  = 70), 25% were aged 41 to 50 years ( n  = 53), 21.4% were aged 51 to 60 years ( n  = 46), and 20.5% were older than 60 years ( n  = 44). Thirty-six percent of respondents had a surgical cosmetic facial procedure and 75% has at least one minimally invasive cosmetic facial procedure. Facial plastic surgeons are frequent users of cosmetic facial plastic surgery. This finding may be due to access, knowledge base, values, or attitudes. By better understanding surgeon attitudes toward facial plastic surgery, we can improve communication with patients and delivery of care. This study is a first step in understanding use of facial plastic procedures among facial plastic surgeons. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Stature and Its Estimation Utilizing Arm Span Measurements of both gender Adolescents from Southern Region in Kosovo

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Fitim Arifi

2018-06-01

Full Text Available This study is based on measurements of Southern region Kosovan adolescents. The aim of this study was to examine the stature of adolescents from Southern region as well relationship between arm span and stature in both Kosovar genders. A total measured subject participated in this research was 225 out of which (105 girls and 120 boys, females average of age is 18.36±0.50 years old (range 18-20 years and for male 18.40±0.55 years old (range 18-20 years.The anthropometric measurements were done by trained people and were taken according to the ISAK manual. Relationship between stature and arm span has been analyzed by the simple correlation coeffi cient at a 95% confi dence interval. The linear regression analysis was carried out to examine extent to which arm span can reliably predict of stature. Statistical importance was placed at level p<0.05. As a result anthropometric measurements for both sexes showed that the average of stature for boys adolescents from Southern region are 178.60±5.73 centimeters and have the arm span average of 180.92±6.92 centimeters, while girls from Southern 165.33±4.45 centimeters tall, and have the arm span average of 165.60±6.03 centimeters. The results have shown that the arm span was estimated as a reliable indicator of stature assessment to the both genders adolescents from Southern region of Kosovo population. This study also confi rms the necessity for developing separate height models for each region in Kosovo.

Reproducibility of the dynamics of facial expressions in unilateral facial palsy.

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Alagha, M A; Ju, X; Morley, S; Ayoub, A

2018-02-01

The aim of this study was to assess the reproducibility of non-verbal facial expressions in unilateral facial paralysis using dynamic four-dimensional (4D) imaging. The Di4D system was used to record five facial expressions of 20 adult patients. The system captured 60 three-dimensional (3D) images per second; each facial expression took 3-4seconds which was recorded in real time. Thus a set of 180 3D facial images was generated for each expression. The procedure was repeated after 30min to assess the reproducibility of the expressions. A mathematical facial mesh consisting of thousands of quasi-point 'vertices' was conformed to the face in order to determine the morphological characteristics in a comprehensive manner. The vertices were tracked throughout the sequence of the 180 images. Five key 3D facial frames from each sequence of images were analyzed. Comparisons were made between the first and second capture of each facial expression to assess the reproducibility of facial movements. Corresponding images were aligned using partial Procrustes analysis, and the root mean square distance between them was calculated and analyzed statistically (paired Student t-test, PFacial expressions of lip purse, cheek puff, and raising of eyebrows were reproducible. Facial expressions of maximum smile and forceful eye closure were not reproducible. The limited coordination of various groups of facial muscles contributed to the lack of reproducibility of these facial expressions. 4D imaging is a useful clinical tool for the assessment of facial expressions. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

The influence of different facial components on facial aesthetics.

NARCIS (Netherlands)

Faure, J.C.; Rieffe, C.; Maltha, J.C.

2002-01-01

Facial aesthetics have an important influence on social behaviour and perception in our society. The purpose of the present study was to evaluate the effect of facial symmetry and inter-ocular distance on the assessment of facial aesthetics, factors that are often suggested as major contributors to

Long-term patterns of body mass and stature evolution within the hominin lineage.

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Will, Manuel; Pablos, Adrián; Stock, Jay T

2017-11-01

Body size is a central determinant of a species' biology and adaptive strategy, but the number of reliable estimates of hominin body mass and stature have been insufficient to determine long-term patterns and subtle interactions in these size components within our lineage. Here, we analyse 254 body mass and 204 stature estimates from a total of 311 hominin specimens dating from 4.4 Ma to the Holocene using multi-level chronological and taxonomic analytical categories. The results demonstrate complex temporal patterns of body size variation with phases of relative stasis intermitted by periods of rapid increases. The observed trajectories could result from punctuated increases at speciation events, but also differential proliferation of large-bodied taxa or the extinction of small-bodied populations. Combined taxonomic and temporal analyses show that in relation to australopithecines, early Homo is characterized by significantly larger average body mass and stature but retains considerable diversity, including small body sizes. Within later Homo , stature and body mass evolution follow different trajectories: average modern stature is maintained from ca 1.6 Ma, while consistently higher body masses are not established until the Middle Pleistocene at ca 0.5-0.4 Ma, likely caused by directional selection related to colonizing higher latitudes. Selection against small-bodied individuals (less than 40 kg; less than 140 cm) after 1.4 Ma is associated with a decrease in relative size variability in later Homo species compared with earlier Homo and australopithecines. The isolated small-bodied individuals of Homo naledi ( ca 0.3 Ma) and Homo floresiensis ( ca 100-60 ka) constitute important exceptions to these general patterns, adding further layers of complexity to the evolution of body size within the genus Homo . At the end of the Late Pleistocene and Holocene, body size in Homo sapiens declines on average, but also extends to lower limits not seen in

Childhood Stature and Growth in Relation to First Ischemic Stroke or Intracerebral Hemorrhage.

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Gjærde, Line Klingen; Truelsen, Thomas Clement; Baker, Jennifer Lyn

2018-03-01

Attained height, an indicator of genetic potential and childhood growth environment, is inversely associated with stroke, but the mechanisms are poorly understood. We investigated whether childhood height and growth are associated with ischemic stroke (IS) and intracerebral hemorrhage (ICH). In a cohort of Danish schoolchildren born 1930 to 1989, with measured height from 7 to 13 years, we investigated associations of childhood stature and growth with risks of adult IS and ICH. Cox proportional hazards regressions were performed to estimate hazard ratios (HRs) with CIs separately for women and men. Among 311 009 individuals, 10 412 were diagnosed with IS and 2546 with ICH. Height at 7 years was inversely and significantly associated with IS in both sexes (per z score, equivalent to ≈5.2 cm in women and 5.1 cm in men; women: HR=0.89 [95% CI: 0.87-0.92]; men: HR=0.90 [95% CI: 0.88-0.92]) and with ICH in men (HR=0.89 [95% CI: 0.84-0.94]) but not in women (HR=0.97 [95% CI: 0.91-1.04]). Associations were similar at older childhood ages and were stable throughout the study period. No statistically significant associations for growth from 7 to 13 years were observed for IS or ICH. Short stature at 7 to 13 years is significantly associated with increased risks of IS in both sexes and with ICH in men. Growth during this period of childhood is not significantly associated with either of these stroke subtypes, suggesting that underlying mechanisms linking height with risks of stroke may exert their influence already by early childhood. © 2018 American Heart Association, Inc.

The role of great auricular-facial nerve neurorrhaphy in facial nerve damage

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Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

2015-01-01

Background: Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Methods: Rat models of facia...

Short-term memory for emotional faces in dysphoria.

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Noreen, Saima; Ridout, Nathan

2010-07-01

The study aimed to determine if the memory bias for negative faces previously demonstrated in depression and dysphoria generalises from long- to short-term memory. A total of 29 dysphoric (DP) and 22 non-dysphoric (ND) participants were presented with a series of faces and asked to identify the emotion portrayed (happiness, sadness, anger, or neutral affect). Following a delay, four faces were presented (the original plus three distractors) and participants were asked to identify the target face. Half of the trials assessed memory for facial emotion, and the remaining trials examined memory for facial identity. At encoding, no group differences were apparent. At memory testing, relative to ND participants, DP participants exhibited impaired memory for all types of facial emotion and for facial identity when the faces featured happiness, anger, or neutral affect, but not sadness. DP participants exhibited impaired identity memory for happy faces relative to angry, sad, and neutral, whereas ND participants exhibited enhanced facial identity memory when faces were angry. In general, memory for faces was not related to performance at encoding. However, in DP participants only, memory for sad faces was related to sadness recognition at encoding. The results suggest that the negative memory bias for faces in dysphoria does not generalise from long- to short-term memory.

Morphologic evaluation and classification of facial asymmetry using 3-dimensional computed tomography.

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Baek, Chaehwan; Paeng, Jun-Young; Lee, Janice S; Hong, Jongrak

2012-05-01

A systematic classification is needed for the diagnosis and surgical treatment of facial asymmetry. The purposes of this study were to analyze the skeletal structures of patients with facial asymmetry and to objectively classify these patients into groups according to these structural characteristics. Patients with facial asymmetry and recent computed tomographic images from 2005 through 2009 were included in this study, which was approved by the institutional review board. Linear measurements, angles, and reference planes on 3-dimensional computed tomograms were obtained, including maxillary (upper midline deviation, maxilla canting, and arch form discrepancy) and mandibular (menton deviation, gonion to midsagittal plane, ramus height, and frontal ramus inclination) measurements. All measurements were analyzed using paired t tests with Bonferroni correction followed by K-means cluster analysis using SPSS 13.0 to determine an objective classification of facial asymmetry in the enrolled patients. Kruskal-Wallis test was performed to verify differences among clustered groups. P < .05 was considered statistically significant. Forty-three patients (18 male, 25 female) were included in the study. They were classified into 4 groups based on cluster analysis. Their mean age was 24.3 ± 4.4 years. Group 1 included subjects (44% of patients) with asymmetry caused by a shift or lateralization of the mandibular body. Group 2 included subjects (39%) with a significant difference between the left and right ramus height with menton deviation to the short side. Group 3 included subjects (12%) with atypical asymmetry, including deviation of the menton to the short side, prominence of the angle/gonion on the larger side, and reverse maxillary canting. Group 4 included subjects (5%) with severe maxillary canting, ramus height differences, and menton deviation to the short side. In this study, patients with asymmetry were classified into 4 statistically distinct groups according to

Estimation of Stature from Arm Span in Medical Students of ...

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“Identification is an individual's birth right” United Nations. Declaration on ... stature from arm span (AS) for a region in Maharashtra, India. Subjects ... found correlation coefficient (R) of 0.89 in male and 0.90 in female using simple regression,.

Dynamic Facial Prosthetics for Sufferers of Facial Paralysis

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Fergal Coulter

2011-10-01

Full Text Available BackgroundThis paper discusses the various methods and the materialsfor the fabrication of active artificial facial muscles. Theprimary use for these will be the reanimation of paralysedor atrophied muscles in sufferers of non-recoverableunilateral facial paralysis.MethodThe prosthetic solution described in this paper is based onsensing muscle motion of the contralateral healthy musclesand replicating that motion across a patient’s paralysed sideof the face, via solid state and thin film actuators. Thedevelopment of this facial prosthetic device focused onrecreating a varying intensity smile, with emphasis ontiming, displacement and the appearance of the wrinklesand folds that commonly appear around the nose and eyesduring the expression.An animatronic face was constructed with actuations beingmade to a silicone representation musculature, usingmultiple shape-memory alloy cascades. Alongside theartificial muscle physical prototype, a facial expressionrecognition software system was constructed. This formsthe basis of an automated calibration and reconfigurationsystem for the artificial muscles following implantation, soas to suit the implantee’s unique physiognomy.ResultsAn animatronic model face with silicone musculature wasdesigned and built to evaluate the performance of ShapeMemory Alloy artificial muscles, their power controlcircuitry and software control systems. A dual facial motionsensing system was designed to allow real time control overmodel – a piezoresistive flex sensor to measure physicalmotion, and a computer vision system to evaluate real toartificial muscle performance.Analysis of various facial expressions in real subjects wasmade, which give useful data upon which to base thesystems parameter limits.ConclusionThe system performed well, and the various strengths andshortcomings of the materials and methods are reviewedand considered for the next research phase, when newpolymer based artificial muscles are constructed

Facial Fractures.

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Ghosh, Rajarshi; Gopalkrishnan, Kulandaswamy

2018-06-01

The aim of this study is to retrospectively analyze the incidence of facial fractures along with age, gender predilection, etiology, commonest site, associated dental injuries, and any complications of patients operated in Craniofacial Unit of SDM College of Dental Sciences and Hospital. This retrospective study was conducted at the Department of OMFS, SDM College of Dental Sciences, Dharwad from January 2003 to December 2013. Data were recorded for the cause of injury, age and gender distribution, frequency and type of injury, localization and frequency of soft tissue injuries, dentoalveolar trauma, facial bone fractures, complications, concomitant injuries, and different treatment protocols.All the data were analyzed using statistical analysis that is chi-squared test. A total of 1146 patients reported at our unit with facial fractures during these 10 years. Males accounted for a higher frequency of facial fractures (88.8%). Mandible was the commonest bone to be fractured among all the facial bones (71.2%). Maxillary central incisors were the most common teeth to be injured (33.8%) and avulsion was the most common type of injury (44.6%). Commonest postoperative complication was plate infection (11%) leading to plate removal. Other injuries associated with facial fractures were rib fractures, head injuries, upper and lower limb fractures, etc., among these rib fractures were seen most frequently (21.6%). This study was performed to compare the different etiologic factors leading to diverse facial fracture patterns. By statistical analysis of this record the authors come to know about the relationship of facial fractures with gender, age, associated comorbidities, etc.

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.

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Thomas, N Simon; Harvey, John F; Bunyan, David J; Rankin, Julia; Grigelioniene, Giedre; Bruno, Damien L; Tan, Tiong Y; Tomkins, Susan; Hastings, Robert

2009-07-01

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences.

Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets

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Borghi, Mauro M.S.; Coates, Veronica; Omar, Hatim A.

2005-01-01

This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possible future therapeutic proposals. It is concluded that the most significant fact in the treatment of familial hypophosphatemic rickets in infancy was the magnitude of the final stature. The use of growth hormone can be helpful in these patients. However, research reporting treatments with the use of the growth hormone for rickets are controversial. The majority of the authors agree that treatment using vitamin D and phosphate enables some statural growth in cases of early diagnosis, reflecting a better prognosis. PMID:16244755

Retention interval affects visual short-term memory encoding.

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Bankó, Eva M; Vidnyánszky, Zoltán

2010-03-01

Humans can efficiently store fine-detailed facial emotional information in visual short-term memory for several seconds. However, an unresolved question is whether the same neural mechanisms underlie high-fidelity short-term memory for emotional expressions at different retention intervals. Here we show that retention interval affects the neural processes of short-term memory encoding using a delayed facial emotion discrimination task. The early sensory P100 component of the event-related potentials (ERP) was larger in the 1-s interstimulus interval (ISI) condition than in the 6-s ISI condition, whereas the face-specific N170 component was larger in the longer ISI condition. Furthermore, the memory-related late P3b component of the ERP responses was also modulated by retention interval: it was reduced in the 1-s ISI as compared with the 6-s condition. The present findings cannot be explained based on differences in sensory processing demands or overall task difficulty because there was no difference in the stimulus information and subjects' performance between the two different ISI conditions. These results reveal that encoding processes underlying high-precision short-term memory for facial emotional expressions are modulated depending on whether information has to be stored for one or for several seconds.

The Genetic Architecture of Barley Plant Stature

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Alqudah, Ahmad M.; Koppolu, Ravi; Wolde, Gizaw M.; Graner, Andreas; Schnurbusch, Thorsten

2016-01-01

Plant stature in temperate cereals is predominantly controlled by tillering and plant height as complex agronomic traits, representing important determinants of grain yield. This study was designed to reveal the genetic basis of tillering at five developmental stages and plant height at harvest in 218 worldwide spring barley (Hordeum vulgare L.) accessions under greenhouse conditions. The accessions were structured based on row-type classes [two- vs. six-rowed] and photoperiod response [photoperiod-sensitive (Ppd-H1) vs. reduced photoperiod sensitivity (ppd-H1)]. Phenotypic analyses of both factors revealed profound between group effects on tiller development. To further verify the row-type effect on the studied traits, Six-rowed spike 1 (vrs1) mutants and their two-rowed progenitors were examined for tiller number per plant and plant height. Here, wild-type (Vrs1) plants were significantly taller and had more tillers than mutants suggesting a negative pleiotropic effect of this row-type locus on both traits. Our genome-wide association scans further revealed highly significant associations, thereby establishing a link between the genetic control of row-type, heading time, tillering, and plant height. We further show that associations for tillering and plant height are co-localized with chromosomal segments harboring known plant stature-related phytohormone and sugar-related genes. This work demonstrates the feasibility of the GWAS approach for identifying putative candidate genes for improving plant architecture. PMID:27446200

Conveying facial expressions to blind and visually impaired persons through a wearable vibrotactile device.

Science.gov (United States)

Buimer, Hendrik P; Bittner, Marian; Kostelijk, Tjerk; van der Geest, Thea M; Nemri, Abdellatif; van Wezel, Richard J A; Zhao, Yan

2018-01-01

In face-to-face social interactions, blind and visually impaired persons (VIPs) lack access to nonverbal cues like facial expressions, body posture, and gestures, which may lead to impaired interpersonal communication. In this study, a wearable sensory substitution device (SSD) consisting of a head mounted camera and a haptic belt was evaluated to determine whether vibrotactile cues around the waist could be used to convey facial expressions to users and whether such a device is desired by VIPs for use in daily living situations. Ten VIPs (mean age: 38.8, SD: 14.4) and 10 sighted persons (SPs) (mean age: 44.5, SD: 19.6) participated in the study, in which validated sets of pictures, silent videos, and videos with audio of facial expressions were presented to the participant. A control measurement was first performed to determine how accurately participants could identify facial expressions while relying on their functional senses. After a short training, participants were asked to determine facial expressions while wearing the emotion feedback system. VIPs using the device showed significant improvements in their ability to determine which facial expressions were shown. A significant increase in accuracy of 44.4% was found across all types of stimuli when comparing the scores of the control (mean±SEM: 35.0±2.5%) and supported (mean±SEM: 79.4±2.1%) phases. The greatest improvements achieved with the support of the SSD were found for silent stimuli (68.3% for pictures and 50.8% for silent videos). SPs also showed consistent, though not statistically significant, improvements while supported. Overall, our study shows that vibrotactile cues are well suited to convey facial expressions to VIPs in real-time. Participants became skilled with the device after a short training session. Further testing and development of the SSD is required to improve its accuracy and aesthetics for potential daily use.

Adolescents with HIV and facial lipoatrophy: response to facial stimulation

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Jesus Claudio Gabana-Silveira

2014-08-01

Full Text Available OBJECTIVES: This study evaluated the effects of facial stimulation over the superficial muscles of the face in individuals with facial lipoatrophy associated with human immunodeficiency virus (HIV and with no indication for treatment with polymethyl methacrylate. METHOD: The study sample comprised four adolescents of both genders ranging from 13 to 17 years in age. To participate in the study, the participants had to score six or less points on the Facial Lipoatrophy Index. The facial stimulation program used in our study consisted of 12 weekly 30-minute sessions during which individuals received therapy. The therapy consisted of intra- and extra-oral muscle contraction and stretching maneuvers of the zygomaticus major and minor and the masseter muscles. Pre- and post-treatment results were obtained using anthropometric static measurements of the face and the Facial Lipoatrophy Index. RESULTS: The results suggest that the therapeutic program effectively improved the volume of the buccinators. No significant differences were observed for the measurements of the medial portion of the face, the lateral portion of the face, the volume of the masseter muscle, or Facial Lipoatrophy Index scores. CONCLUSION: The results of our study suggest that facial maneuvers applied to the superficial muscles of the face of adolescents with facial lipoatrophy associated with HIV improved the facial area volume related to the buccinators muscles. We believe that our results will encourage future research with HIV patients, especially for patients who do not have the possibility of receiving an alternative aesthetic treatment.

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

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Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

2014-08-01

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

A facial marker in facial wasting rehabilitation.

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Rauso, Raffaele; Tartaro, Gianpaolo; Freda, Nicola; Rusciani, Antonio; Curinga, Giuseppe

2012-02-01

Facial lipoatrophy is one of the most distressing manifestation for HIV patients. It can be stigmatizing, severely affecting quality of life and self-esteem, and it may result in reduced antiretroviral adherence. Several filling techniques have been proposed in facial wasting restoration, with different outcomes. The aim of this study is to present a triangular area that is useful to fill in facial wasting rehabilitation. Twenty-eight HIV patients rehabilitated for facial wasting were enrolled in this study. Sixteen were rehabilitated with a non-resorbable filler and twelve with structural fat graft harvested from lipohypertrophied areas. A photographic pre-operative and post-operative evaluation was performed by the patients and by two plastic surgeons who were "blinded." The filled area, in both patients rehabilitated with structural fat grafts or non-resorbable filler, was a triangular area of depression identified between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks. The cosmetic result was evaluated after three months after the last filling procedure in the non-resorbable filler group and after three months post-surgery in the structural fat graft group. The mean patient satisfaction score was 8.7 as assessed with a visual analogue scale. The mean score for blinded evaluators was 7.6. In this study the authors describe a triangular area of the face, between the nasolabial fold, the malar arch, and the line that connects these two anatomical landmarks, where a good aesthetic facial restoration in HIV patients with facial wasting may be achieved regardless of which filling technique is used.

Studies on the Estimation of Stature from Hand and Foot Length of an Individual

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O. S. Saka

2016-10-01

Full Text Available Background: Studies on the estimation of stature from hand and foot length of an individual are essential study in personal identification. Aim and Objectives: This study is to find out correlation between statures with hand and foot dimensions in both sexes and gender comparison from an individual in Lautech Staff College in Ogbomoso and College ogbomoso and College of Health Sciences, Obafemi Awolowo University, Ile-Ife, Nigeria. Material and Methods: A sample of 140 students and staff; 70 male and 70 female Students and staff of Lautech Staff College in Ogbomoso and College ogbomoso and College of Health Sciences, Obafemi Awolowo University, Ile-Ife, between 16-35years were considered and measurements were taken for each of the parameters. Gender differences for the two parameters were determined using Student t-test. Pearson's correlation coefficient (r was used to examine the relationship between two anthropometric parameters and standing height (stature. All these measurements were done by using standard anthropometric instruments and standard anthropometric techniques. Results: The findings of the study indicated that the males mean values are not significantly difference when compared with females mean values in all measured parameters. The study showed significant (p<0.001 positive correlation between the stature with hand lengths and foot lengths. The hand and foot length provide accurate and reliable means in establishing the height of an individual. Conclusion: This study will be useful for forensic scientists and anthropologists as well as anatomists in ascertain medico-legal cases

Spacer Facial Artery Musculomucosal Flap: Simultaneous Closure of Oronasal Fistulas and Palatal Lengthening.

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Lee, Jonathan Y; Alizadeh, Kaveh

2016-01-01

In this series, the authors describe a modification of the facial artery musculomucosal flap for oronasal fistula repair. The spacer facial artery musculomucosal flap technique is characterized by a pedicle inset into the retromolar trigone and palate, obviating a second operative stage. This was performed in 14 patients with a 5.2-cm mean fistula size. Average follow-up was 4.3 years, with one partial flap necrosis but no recurrent oronasal fistula. There was a mean decrease of 18 percent in the distance between the velum and the posterior pharyngeal wall. The spacer facial artery musculomucosal flap provides a single-stage reconstruction of oronasal fistula while lengthening the palate through a pushback mechanism. Although further study of velopharyngeal function is needed, the spacer facial artery musculomucosal flap may be beneficial for patients with a short velum and an oronasal fistula. Therapeutic, IV.

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

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Rabah M. Shawky

2014-10-01

Full Text Available We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS, (microtia, absent patella and short stature. She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

[Facial nerve neurinomas].

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Sokołowski, Jacek; Bartoszewicz, Robert; Morawski, Krzysztof; Jamróz, Barbara; Niemczyk, Kazimierz

2013-01-01

Evaluation of diagnostic, surgical technique, treatment results facial nerve neurinomas and its comparison with literature was the main purpose of this study. Seven cases of patients (2005-2011) with facial nerve schwannomas were included to retrospective analysis in the Department of Otolaryngology, Medical University of Warsaw. All patients were assessed with history of the disease, physical examination, hearing tests, computed tomography and/or magnetic resonance imaging, electronystagmography. Cases were observed in the direction of potential complications and recurrences. Neurinoma of the facial nerve occurred in the vertical segment (n=2), facial nerve geniculum (n=1) and the internal auditory canal (n=4). The symptoms observed in patients were analyzed: facial nerve paresis (n=3), hearing loss (n=2), dizziness (n=1). Magnetic resonance imaging and computed tomography allowed to confirm the presence of the tumor and to assess its staging. Schwannoma of the facial nerve has been surgically removed using the middle fossa approach (n=5) and by antromastoidectomy (n=2). Anatomical continuity of the facial nerve was achieved in 3 cases. In the twelve months after surgery, facial nerve paresis was rated at level II-III° HB. There was no recurrence of the tumor in radiological observation. Facial nerve neurinoma is a rare tumor. Currently surgical techniques allow in most cases, the radical removing of the lesion and reconstruction of the VII nerve function. The rate of recurrence is low. A tumor of the facial nerve should be considered in the differential diagnosis of nerve VII paresis. Copyright © 2013 Polish Otorhinolaryngology - Head and Neck Surgery Society. Published by Elsevier Urban & Partner Sp. z.o.o. All rights reserved.

Contralateral botulinum toxin injection to improve facial asymmetry after acute facial paralysis.

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Kim, Jin

2013-02-01

The application of botulinum toxin to the healthy side of the face in patients with long-standing facial paralysis has been shown to be a minimally invasive technique that improves facial symmetry at rest and during facial motion, but our experience using botulinum toxin therapy for facial sequelae prompted the idea that botulinum toxin might be useful in acute cases of facial paralysis, leading to improve facial asymmetry. In cases in which medical or surgical treatment options are limited because of existing medical problems or advanced age, most patients with acute facial palsy are advised to await spontaneous recovery or are informed that no effective intervention exists. The purpose of this study was to evaluate the effect of botulinum toxin treatment for facial asymmetry in 18 patients after acute facial palsy who could not be optimally treated by medical or surgical management because of severe medical or other problems. From 2009 to 2011, nine patients with Bell's palsy, 5 with herpes zoster oticus and 4 with traumatic facial palsy (10 men and 8 women; age range, 22-82 yr; mean, 50.8 yr) participated in this study. Botulinum toxin A (Botox; Allergan Incorporated, Irvine, CA, USA) was injected using a tuberculin syringe with a 27-gauge needle. The amount injected per site varied from 2.5 to 3 U, and the total dose used per patient was 32 to 68 U (mean, 47.5 +/- 8.4 U). After administration of a single dose of botulinum toxin A on the nonparalyzed side of 18 patients with acute facial paralysis, marked relief of facial asymmetry was observed in 8 patients within 1 month of injection. Decreased facial asymmetry and strengthened facial function on the paralyzed side led to an increased HB and SB grade within 6 months after injection. Use of botulinum toxin after acute facial palsy cases is of great value. Such therapy decreases the relative hyperkinesis contralateral to the paralysis, leading to greater symmetric function. Especially in patients with medical

Rejuvenecimiento facial

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L. Daniel Jacubovsky, Dr.

2010-01-01

Full Text Available El envejecimiento facial es un proceso único y particular a cada individuo y está regido en especial por su carga genética. El lifting facial es una compleja técnica desarrollada en nuestra especialidad desde principios de siglo, para revertir los principales signos de este proceso. Los factores secundarios que gravitan en el envejecimiento facial son múltiples y por ello las ritidectomías o lifting cérvico faciales descritas han buscado corregir los cambios fisonómicos del envejecimiento excursionando, como se describe, en todos los planos tisulares involucrados. Esta cirugía por lo tanto, exige conocimiento cabal de la anatomía quirúrgica, pericia y experiencia para reducir las complicaciones, estigmas quirúrgicos y revisiones secundarias. La ridectomía facial ha evolucionado hacia un procedimiento más simple, de incisiones más cortas y disecciones menos extensas. Las suspensiones musculares han variado en su ejecución y los vectores de montaje y resección cutánea son cruciales en los resultados estéticos de la cirugía cérvico facial. Hoy estos vectores son de tracción más vertical. La corrección de la flaccidez va acompañada de un interés en reponer el volumen de la superficie del rostro, en especial el tercio medio. Las técnicas quirúrgicas de rejuvenecimiento, en especial el lifting facial, exigen una planificación para cada paciente. Las técnicas adjuntas al lifting, como blefaroplastias, mentoplastía, lipoaspiración de cuello, implantes faciales y otras, también han tenido una positiva evolución hacia la reducción de riesgos y mejor éxito estético.

Quantitative facial asymmetry: using three-dimensional photogrammetry to measure baseline facial surface symmetry.

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Taylor, Helena O; Morrison, Clinton S; Linden, Olivia; Phillips, Benjamin; Chang, Johnny; Byrne, Margaret E; Sullivan, Stephen R; Forrest, Christopher R

2014-01-01

Although symmetry is hailed as a fundamental goal of aesthetic and reconstructive surgery, our tools for measuring this outcome have been limited and subjective. With the advent of three-dimensional photogrammetry, surface geometry can be captured, manipulated, and measured quantitatively. Until now, few normative data existed with regard to facial surface symmetry. Here, we present a method for reproducibly calculating overall facial symmetry and present normative data on 100 subjects. We enrolled 100 volunteers who underwent three-dimensional photogrammetry of their faces in repose. We collected demographic data on age, sex, and race and subjectively scored facial symmetry. We calculated the root mean square deviation (RMSD) between the native and reflected faces, reflecting about a plane of maximum symmetry. We analyzed the interobserver reliability of the subjective assessment of facial asymmetry and the quantitative measurements and compared the subjective and objective values. We also classified areas of greatest asymmetry as localized to the upper, middle, or lower facial thirds. This cluster of normative data was compared with a group of patients with subtle but increasing amounts of facial asymmetry. We imaged 100 subjects by three-dimensional photogrammetry. There was a poor interobserver correlation between subjective assessments of asymmetry (r = 0.56). There was a high interobserver reliability for quantitative measurements of facial symmetry RMSD calculations (r = 0.91-0.95). The mean RMSD for this normative population was found to be 0.80 ± 0.24 mm. Areas of greatest asymmetry were distributed as follows: 10% upper facial third, 49% central facial third, and 41% lower facial third. Precise measurement permitted discrimination of subtle facial asymmetry within this normative group and distinguished norms from patients with subtle facial asymmetry, with placement of RMSDs along an asymmetry ruler. Facial surface symmetry, which is poorly assessed

Importance of the brow in facial expressiveness during human communication.

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Neely, John Gail; Lisker, Paul; Drapekin, Jesse

2014-03-01

The objective of this study was to evaluate laterality and upper/lower face dominance of expressiveness during prescribed speech using a unique validated image subtraction system capable of sensitive and reliable measurement of facial surface deformation. Observations and experiments of central control of facial expressions during speech and social utterances in humans and animals suggest that the right mouth moves more than the left during nonemotional speech. However, proficient lip readers seem to attend to the whole face to interpret meaning from expressed facial cues, also implicating a horizontal (upper face-lower face) axis. Prospective experimental design. Experimental maneuver: recited speech. image-subtraction strength-duration curve amplitude. Thirty normal human adults were evaluated during memorized nonemotional recitation of 2 short sentences. Facial movements were assessed using a video-image subtractions system capable of simultaneously measuring upper and lower specific areas of each hemiface. The results demonstrate both axes influence facial expressiveness in human communication; however, the horizontal axis (upper versus lower face) would appear dominant, especially during what would appear to be spontaneous breakthrough unplanned expressiveness. These data are congruent with the concept that the left cerebral hemisphere has control over nonemotionally stimulated speech; however, the multisynaptic brainstem extrapyramidal pathways may override hemiface laterality and preferentially take control of the upper face. Additionally, these data demonstrate the importance of the often-ignored brow in facial expressiveness. Experimental study. EBM levels not applicable.

Asians' Facial Responsiveness to Basic Tastes by Automated Facial Expression Analysis System.

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Zhi, Ruicong; Cao, Lianyu; Cao, Gang

2017-03-01

Growing evidence shows that consumer choices in real life are mostly driven by unconscious mechanisms rather than conscious. The unconscious process could be measured by behavioral measurements. This study aims to apply automatic facial expression analysis technique for consumers' emotion representation, and explore the relationships between sensory perception and facial responses. Basic taste solutions (sourness, sweetness, bitterness, umami, and saltiness) with 6 levels plus water were used, which could cover most of the tastes found in food and drink. The other contribution of this study is to analyze the characteristics of facial expressions and correlation between facial expressions and perceptive hedonic liking for Asian consumers. Up until now, the facial expression application researches only reported for western consumers, while few related researches investigated the facial responses during food consuming for Asian consumers. Experimental results indicated that facial expressions could identify different stimuli with various concentrations and different hedonic levels. The perceived liking increased at lower concentrations and decreased at higher concentrations, while samples with medium concentrations were perceived as the most pleasant except sweetness and bitterness. High correlations were founded between perceived intensities of bitterness, umami, saltiness, and facial reactions of disgust and fear. Facial expression disgust and anger could characterize emotion "dislike," and happiness could characterize emotion "like," while neutral could represent "neither like nor dislike." The identified facial expressions agree with the perceived sensory emotions elicited by basic taste solutions. The correlation analysis between hedonic levels and facial expression intensities obtained in this study are in accordance with that discussed for western consumers. © 2017 Institute of Food Technologists®.

Facial exercises for facial rejuvenation: a control group study.

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De Vos, Marie-Camille; Van den Brande, Helen; Boone, Barbara; Van Borsel, John

2013-01-01

Facial exercises are a noninvasive alternative to medical approaches to facial rejuvenation. Logopedists could be involved in providing these exercises. Little research has been conducted, however, on the effectiveness of exercises for facial rejuvenation. This study assessed the effectiveness of 4 exercises purportedly reducing wrinkles and sagging of the facial skin. A control group study was conducted with 18 participants, 9 of whom (the experimental group) underwent daily training for 7 weeks. Pictures taken before and after 7 weeks of 5 facial areas (forehead, nasolabial folds, area above the upper lip, jawline and area under the chin) were evaluated by a panel of laypersons. In addition, the participants of the experimental group evaluated their own pictures. Evaluation included the pairwise presentation of pictures before and after 7 weeks and scoring of the same pictures by means of visual analogue scales in a random presentation. Only one significant difference was found between the control and experimental group. In the experimental group, the picture after therapy of the upper lip was more frequently chosen to be the younger-looking one by the panel. It cannot be concluded that facial exercises are effective. More systematic research is needed. © 2013 S. Karger AG, Basel.

Avaliação comparativa entre agradabilidade facial e análise subjetiva do Padrão Facial Comparative evaluation among facial attractiveness and subjective analysis of Facial Pattern

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Olívia Morihisa

2009-12-01

Full Text Available OBJETIVO: estudar duas análises subjetivas faciais utilizadas para o diagnóstico ortodôntico, avaliação da agradabilidade facial e definição de Padrão Facial, e verificar a associação existente entre elas. MÉTODOS: utilizou-se 208 fotografias faciais padronizadas (104 laterais e 104 frontais de 104 indivíduos escolhidos aleatoriamente, as quais foram submetidas à avaliação da agradabilidade por dois grupos distintos (Grupo " Ortodontia" e Grupo " Leigos" , que classificaram os indivíduos em " agradável" , " aceitável" ou " desagradável" . Os indivíduos também foram classificados quanto ao Padrão Facial por três examinadores calibrados, utilizando-se apenas a vista lateral. RESULTADOS E CONCLUSÃO: após a análise estatística, verificou-se que houve associação fortemente positiva entre a agradabilidade facial e o Padrão Facial para a norma lateral, porém não para a frontal, em que os indivíduos tenderam a ser bem classificados mesmo no Padrão II.AIM: To study two subjective facial analysis commonly used on orthodontic diagnosis and to verify the association between the evaluation of facial attractiveness and Facial Pattern definition. METHODS: Two hundred and eight standardized face photographs (104 in lateral view and 104 in frontal view of 104 randomly chosen individuals were used in the present study. They were classified as " pleasant" , " acceptable" and " not pleasant" by two distinct groups: " Lay people" and " Orthodontists" . The individuals were either classified according to their Facial Pattern using lateral view images. RESULTS AND CONCLUSION: After statistical analysis, it was noted a strong positive concordance between facial attractiveness in lateral view and Facial Pattern, however, frontal view attractiveness classification did not have good concordance with Facial Pattern, tending to have good attractiveness classification even in Facial Pattern II.

Facial trauma.

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Peeters, N; Lemkens, P; Leach, R; Gemels B; Schepers, S; Lemmens, W

Facial trauma. Patients with facial trauma must be assessed in a systematic way so as to avoid missing any injury. Severe and disfiguring facial injuries can be distracting. However, clinicians must first focus on the basics of trauma care, following the Advanced Trauma Life Support (ATLS) system of care. Maxillofacial trauma occurs in a significant number of severely injured patients. Life- and sight-threatening injuries must be excluded during the primary and secondary surveys. Special attention must be paid to sight-threatening injuries in stabilized patients through early referral to an appropriate specialist or the early initiation of emergency care treatment. The gold standard for the radiographic evaluation of facial injuries is computed tomography (CT) imaging. Nasal fractures are the most frequent isolated facial fractures. Isolated nasal fractures are principally diagnosed through history and clinical examination. Closed reduction is the most frequently performed treatment for isolated nasal fractures, with a fractured nasal septum as a predictor of failure. Ear, nose and throat surgeons, maxillofacial surgeons and ophthalmologists must all develop an adequate treatment plan for patients with complex maxillofacial trauma.

Estimation of Stature from Arm Span in Medical Students of ...

African Journals Online (AJOL)

Unpaired t.test and simple linear regression were used. Results: Stature and AS of 400 medical students (219 males and 181 females) were measured. Subjects were divided into six groups depending upon age. Simple regression equation and multiplication factor for male and female and for each age group were derived ...

An analysis of facial nerve function in irradiated and unirradiated facial nerve grafts

International Nuclear Information System (INIS)

Brown, Paul D.; Eshleman, Jeffrey S.; Foote, Robert L.; Strome, Scott E.

2000-01-01

Purpose: The effect of high-dose radiation therapy on facial nerve grafts is controversial. Some authors believe radiotherapy is so detrimental to the outcome of facial nerve graft function that dynamic or static slings should be performed instead of facial nerve grafts in all patients who are to receive postoperative radiation therapy. Unfortunately, the facial function achieved with dynamic and static slings is almost always inferior to that after facial nerve grafts. In this retrospective study, we compared facial nerve function in irradiated and unirradiated nerve grafts. Methods and Materials: The medical records of 818 patients with neoplasms involving the parotid gland who received treatment between 1974 and 1997 were reviewed, of whom 66 underwent facial nerve grafting. Fourteen patients who died or had a recurrence less than a year after their facial nerve graft were excluded. The median follow-up for the remaining 52 patients was 10.6 years. Cable nerve grafts were performed in 50 patients and direct anastomoses of the facial nerve in two. Facial nerve function was scored by means of the House-Brackmann (H-B) facial grading system. Twenty-eight of the 52 patients received postoperative radiotherapy. The median time from nerve grafting to start of radiotherapy was 5.1 weeks. The median and mean doses of radiation were 6000 and 6033 cGy, respectively, for the irradiated grafts. One patient received preoperative radiotherapy to a total dose of 5000 cGy in 25 fractions and underwent surgery 1 month after the completion of radiotherapy. This patient was placed, by convention, in the irradiated facial nerve graft cohort. Results: Potential prognostic factors for facial nerve function such as age, gender, extent of surgery at the time of nerve grafting, preoperative facial nerve palsy, duration of preoperative palsy if present, or number of previous operations in the parotid bed were relatively well balanced between irradiated and unirradiated patients. However

Comparison of emotion recognition from facial expression and music.

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Gaspar, Tina; Labor, Marina; Jurić, Iva; Dumancić, Dijana; Ilakovac, Vesna; Heffer, Marija

2011-01-01

The recognition of basic emotions in everyday communication involves interpretation of different visual and auditory clues. The ability to recognize emotions is not clearly determined as their presentation is usually very short (micro expressions), whereas the recognition itself does not have to be a conscious process. We assumed that the recognition from facial expressions is selected over the recognition of emotions communicated through music. In order to compare the success rate in recognizing emotions presented as facial expressions or in classical music works we conducted a survey which included 90 elementary school and 87 high school students from Osijek (Croatia). The participants had to match 8 photographs of different emotions expressed on the face and 8 pieces of classical music works with 8 offered emotions. The recognition of emotions expressed through classical music pieces was significantly less successful than the recognition of emotional facial expressions. The high school students were significantly better at recognizing facial emotions than the elementary school students, whereas girls were better than boys. The success rate in recognizing emotions from music pieces was associated with higher grades in mathematics. Basic emotions are far better recognized if presented on human faces than in music, possibly because the understanding of facial emotions is one of the oldest communication skills in human society. Female advantage in emotion recognition was selected due to the necessity of their communication with the newborns during early development. The proficiency in recognizing emotional content of music and mathematical skills probably share some general cognitive skills like attention, memory and motivation. Music pieces were differently processed in brain than facial expressions and consequently, probably differently evaluated as relevant emotional clues.

Nasolabial facial artery and vein as recipient vessels for midface microsurgical reconstruction.

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Oh, Suk Joon; Jeon, Man Kyung; Koh, Sung Hoon

2011-05-01

Although free flap transfer is commonly performed to reconstruct facial defects, the submandibular facial artery and vein have historically been considered as adequate recipient vessels for microsurgical reconstruction. If the vascular pedicles of the free flap are short, vein grafts are necessary. The purpose of this study was to determine the indications for and effectiveness of using the nasolabial facial vessels for midfacial reconstruction. A retrospective chart review of 6 patients undergoing microsurgical reconstruction for defects of the face revealed 6 free tissue transfers in which the nasolabial facial artery and vein were considered for use as recipient vessels. Flap success rates were evaluated. Six patients (5 men and 1 woman) underwent 6 free flap transfers. Five anterior helix free flaps were used for the reconstruction of defects in the lower third of the nose. Nasal defects were due to trauma in 4 patients and squamous cell carcinoma in 1 patient. In 1 neurofibromatosis type 1 case, a radial forearm flap was used for reconstruction of the left orbital defect. The facial artery and vein in the nasolabial fold were used as the recipient artery and vein in every case. The mean length of follow-up was 5.8 years. All flaps survived. All patients were satisfied with the degree of aesthetic improvement after surgery.Use of the facial artery and vein in the nasolabial fold for facial reconstruction is reliable and safe. The nasolabial facial artery and vein should be considered as primary recipient vessels in microsurgical reconstruction of the midface.

Clinical predictors of facial nerve outcome after translabyrinthine resection of acoustic neuromas.

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Shamji, Mohammed F; Schramm, David R; Benoit, Brien G

2007-01-01

The translabyrinthine approach to acoustic neuroma resection offers excellent exposure for facial nerve dissection with 95% preservation of anatomic continuity. Acceptable outcome in facial asymptomatic patients is reported at 64-90%, but transient postoperative deterioration often occurs. The objective of this study was to identify preoperative clinical presentation and intraoperative surgical findings that predispose patients to facial nerve dysfunction after acoustic neuroma surgery. The charts of 128 consecutive translabyrinthine patients were examined retrospectively to identify new clinical and intraoperative predictors of facial nerve outcome. Postoperative evaluation of patients to normal function or mild asymmetry upon close inspection (House-Brackmann grades of I or II) was defined as an acceptable outcome, with obvious asymmetry to no movement (grades III to VI) defined as unacceptable. Intraoperative nerve stimulation was performed in all cases, and clinical grading was performed by a single neurosurgeon in all cases. Among patients with no preoperative facial nerve deficit, 87% had an acceptable result. Small size (P mA (P< 0.01) were reaffirmed as predictive of functional nerve preservation. Additionally, preoperative tinnitus (P = 0.03), short duration of hearing loss (P< 0. 01), and lack of subjective tumour adherence to the facial nerve (P = 0.02) were independently correlated with positive outcome. Our experience with the translabyrinthine approach reveals the previously unestablished associations of facial nerve outcome to include presence of tinnitus and duration of hypoacusis. Independent predictors of tumour size and nerve stimulation thresholds were reaffirmed, and the subjective description of tumour adherence to the facial nerve making dissection more difficult appears to be important.

Estimation of Stature from Footprint Anthropometry Using Regression Analysis: A Study on the Bidayuh Population of East Malaysia

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T. Nataraja Moorthy

2015-05-01

Full Text Available The human foot has been studied for a variety of reasons, i.e., for forensic as well as non-forensic purposes by anatomists, forensic scientists, anthropologists, physicians, podiatrists, and numerous other groups. An aspect of human identification that has received scant attention from forensic anthropologists is the study of human feet and the footprints made by the feet. The present study, conducted during 2013-2014, aimed to derive population specific regression equations to estimate stature from the footprint anthropometry of indigenous adult Bidayuhs in the east of Malaysia. The study sample consisted of 480 bilateral footprints collected using a footprint kit from 240 Bidayuhs (120 males and 120 females, who consented to taking part in the study. Their ages ranged from 18 to 70 years. Stature was measured using a portable body meter device (SECA model 206. The data were analyzed using PASW Statistics version 20. In this investigation, better results were obtained in terms of correlation coefficient (R between stature and various footprint measurements and regression analysis in estimating the stature. The (R values showed a positive and statistically significant (p < 0.001 relationship between the two parameters. The correlation coefficients in the pooled sample (0.861–0.882 were comparatively higher than those of an individual male (0.762-0.795 and female (0.722-0.765. This study provided regression equations to estimate stature from footprints in the Bidayuh population. The result showed that the regression equations without sex indicators performed significantly better than models with gender indications. The regression equations derived for a pooled sample can be used to estimate stature, even when the sex of the footprint is unknown, as in real crime scenes.

Estimation of stature from the foot and its segments in a sub-adult female population of North India

Science.gov (United States)

2011-01-01

Background Establishing personal identity is one of the main concerns in forensic investigations. Estimation of stature forms a basic domain of the investigation process in unknown and co-mingled human remains in forensic anthropology case work. The objective of the present study was to set up standards for estimation of stature from the foot and its segments in a sub-adult female population. Methods The sample for the study constituted 149 young females from the Northern part of India. The participants were aged between 13 and 18 years. Besides stature, seven anthropometric measurements that included length of the foot from each toe (T1, T2, T3, T4, and T5 respectively), foot breadth at ball (BBAL) and foot breadth at heel (BHEL) were measured on both feet in each participant using standard methods and techniques. Results The results indicated that statistically significant differences (p forensic examination. Stepwise multiple regression models tend to estimate stature more accurately than linear regression models in female sub-adults. PMID:22104433

Facial EMG responses to emotional expressions are related to emotion perception ability.

Science.gov (United States)

Künecke, Janina; Hildebrandt, Andrea; Recio, Guillermo; Sommer, Werner; Wilhelm, Oliver

2014-01-01

Although most people can identify facial expressions of emotions well, they still differ in this ability. According to embodied simulation theories understanding emotions of others is fostered by involuntarily mimicking the perceived expressions, causing a "reactivation" of the corresponding mental state. Some studies suggest automatic facial mimicry during expression viewing; however, findings on the relationship between mimicry and emotion perception abilities are equivocal. The present study investigated individual differences in emotion perception and its relationship to facial muscle responses - recorded with electromyogram (EMG)--in response to emotional facial expressions. N° = °269 participants completed multiple tasks measuring face and emotion perception. EMG recordings were taken from a subsample (N° = °110) in an independent emotion classification task of short videos displaying six emotions. Confirmatory factor analyses of the m. corrugator supercilii in response to angry, happy, sad, and neutral expressions showed that individual differences in corrugator activity can be separated into a general response to all faces and an emotion-related response. Structural equation modeling revealed a substantial relationship between the emotion-related response and emotion perception ability, providing evidence for the role of facial muscle activation in emotion perception from an individual differences perspective.

Facial Expression Recognition

NARCIS (Netherlands)

Pantic, Maja; Li, S.; Jain, A.

2009-01-01

Facial expression recognition is a process performed by humans or computers, which consists of: 1. Locating faces in the scene (e.g., in an image; this step is also referred to as face detection), 2. Extracting facial features from the detected face region (e.g., detecting the shape of facial

Stress and cortisol responses in men: differences according to facial symmetry.

Science.gov (United States)

Borráz-León, Javier I; Cerda-Molina, Ana Lilia; Mayagoitia-Novales, Lilian

2017-11-01

Stress response is associated with increased activity in the hypothalamic-pituitary-adrenocortical axis. Chronic stress-induced elevation in cortisol may alter its own negative regulation with multiple long-term consequences for physical and psychological health. One of the most reliable physical traits associated with mental, apparent physical health, and competitiveness is the degree of facial fluctuating asymmetry. However, to our knowledge there are no studies regarding the relationship between cortisol levels, facial symmetry and male competitiveness, and how cortisol changes after a stressful test depending on these traits. Here, a group of 100 college men were photographed to obtain their facial asymmetry levels. They then, answered the perceived stress scale and the intrasexual competition test and donated two saliva samples (pre-and post-test sample) to measure the change in their cortisol levels after a stressful test. We found that basal cortisol levels were positively correlated with both perceived stress and competitiveness, but not with facial fluctuating asymmetry. Cortisol levels increased in most symmetrical men after a short stressful test, but it decreased in most asymmetrical men. The results suggest differences in endocrine responses according to facial fluctuating asymmetry in men and how these responses could be related to the maintenance of social status.

No Compelling Evidence that Preferences for Facial Masculinity Track Changes in Women's Hormonal Status.

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Jones, Benedict C; Hahn, Amanda C; Fisher, Claire I; Wang, Hongyi; Kandrik, Michal; Han, Chengyang; Fasolt, Vanessa; Morrison, Danielle; Lee, Anthony J; Holzleitner, Iris J; O'Shea, Kieran J; Roberts, S Craig; Little, Anthony C; DeBruine, Lisa M

2018-06-01

Although widely cited as strong evidence that sexual selection has shaped human facial-attractiveness judgments, findings suggesting that women's preferences for masculine characteristics in men's faces are related to women's hormonal status are equivocal and controversial. Consequently, we conducted the largest-ever longitudinal study of the hormonal correlates of women's preferences for facial masculinity ( N = 584). Analyses showed no compelling evidence that preferences for facial masculinity were related to changes in women's salivary steroid hormone levels. Furthermore, both within-subjects and between-subjects comparisons showed no evidence that oral contraceptive use decreased masculinity preferences. However, women generally preferred masculinized over feminized versions of men's faces, particularly when assessing men's attractiveness for short-term, rather than long-term, relationships. Our results do not support the hypothesized link between women's preferences for facial masculinity and their hormonal status.

Correlation between facial types and muscle TMD in women: an anthropometric approach

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Ronaldo Pacheco de ARAUJO

2015-01-01

Full Text Available Temporomandibular disorders (TMD affecting the articular disc and/or the facial muscles are common among the population, recording a higher incidence in women age 20-40 years. The aim of this study was to investigate the correlation between facial types and muscle TMD in women. This study comprised 56 women age 18 to 49 years, seeking treatment for TMD at the School of Medicine, Federal University of São Paulo. All of the study individuals were diagnosed with muscle TMD, based on the Research Diagnostic Criteria (RDC. Facial type was determined using the Facial Brugsch Index and classified as euryprosopic (short and/or broad, mesoprosopic (average width and leptoprosopic (long and/or narrow. The data were submitted to the Chi-square test and ANOVA-Tukey’s test to conduct the statistical analysis. The faces of 27 individuals were classified as euryprosopic (48%, 18 as mesoprosopic (32%, and 11 as leptoprosopic (20%. A statistically significant difference (Chi-square, p = 0.032 was found among the facial types, in that leptoprosopic facial types showed the lowest values for muscle TMD. A greater number (p = 0.0007 of cases of muscle TMD were observed in the 20 to 39 year-old subjects than in the subjects of other age segments. In conclusion, women with euryprosopic facial types could be more susceptible to muscle TMD. Further studies are needed to investigate this hypothesis.

Slowing down Presentation of Facial Movements and Vocal Sounds Enhances Facial Expression Recognition and Induces Facial-Vocal Imitation in Children with Autism

Science.gov (United States)

Tardif, Carole; Laine, France; Rodriguez, Melissa; Gepner, Bruno

2007-01-01

This study examined the effects of slowing down presentation of facial expressions and their corresponding vocal sounds on facial expression recognition and facial and/or vocal imitation in children with autism. Twelve autistic children and twenty-four normal control children were presented with emotional and non-emotional facial expressions on…

Bird-Headed Dwarf of Seckel

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Harsha Vardhan B

2007-05-01

Full Text Available Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight. Growth delays continue after birth resulting in short stature (dwarfism. This syndrome is associated with an abnormally small head, varying degrees of mental retardation and unusual "beak like" protrusion of nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented.

Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

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Haji Mohammed Nazir

2017-01-01

Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

Hairy ears; Revisited

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Daifullah Al Aboud

2014-04-01

Full Text Available Hair can grow in areas which are not usually hairy in human skin. The Online Mendelian Inheritance in Man (OMIM (http:// www.ncbi.nlm.nih.gov/omimhave some entries in this regards. These include ( %139600 – HAIRY ELBOWS, #605130 – HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY, 139630 – HAIRY NOSE TIP, 139500 – HAIRY EARS, and 425500 – HAIRY EARS, Y-LINKED. Hairy ears, (Fig. 1, are uncommon trait and it is rare to see a person with very long hair on the ears.

Facial anatomy.

Science.gov (United States)

Marur, Tania; Tuna, Yakup; Demirci, Selman

2014-01-01

Dermatologic problems of the face affect both function and aesthetics, which are based on complex anatomical features. Treating dermatologic problems while preserving the aesthetics and functions of the face requires knowledge of normal anatomy. When performing successfully invasive procedures of the face, it is essential to understand its underlying topographic anatomy. This chapter presents the anatomy of the facial musculature and neurovascular structures in a systematic way with some clinically important aspects. We describe the attachments of the mimetic and masticatory muscles and emphasize their functions and nerve supply. We highlight clinically relevant facial topographic anatomy by explaining the course and location of the sensory and motor nerves of the face and facial vasculature with their relations. Additionally, this chapter reviews the recent nomenclature of the branching pattern of the facial artery. © 2013 Elsevier Inc. All rights reserved.

Diplegia facial traumatica Traumatic facial diplegia: a case report

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J. Fortes-Rego

1975-12-01

Full Text Available É relatado um caso de paralisia facial bilateral, incompleta, associada a hipoacusia esquerda, após traumatismo cranioencefálico, com fraturas evidenciadas radiológicamente. Algumas considerações são formuladas tentando relacionar ditas manifestações com fraturas do osso temporal.A case of traumatic facial diplegia with left partial loss of hearing following head injury is reported. X-rays showed fractures on the occipital and left temporal bones. A review of traumatic facial paralysis is made.

Growth hormone responsiveness: peak stimulated growth hormone levels and other variables in idiopathic short stature (ISS): data from the National Cooperative Growth Study.

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Moore, Wayne V; Dana, Ken; Frane, James; Lippe, Barbara

2008-09-01

In children with idiopathic short stature (ISS), growth hormone (GH) response to a provocative test will be inversely related to the first year response to hGH and be a variable accounting for a degree of responsiveness. Because high levels of GH are a characteristic of GH insensitivity, such as in Laron syndrome, it is possible that a high stimulated GH is associated with a lower first year height velocity among children diagnosed as having ISS. We examined the relationship between the peak stimulated GH levels in 3 ISS groups; GH >10 -40 ng/mL and the first year growth response to rhGH therapy. We also looked at 8 other predictor variables (age, sex, height SDS, height age, body mass index (BMI), bone age, dose, and SDS deficit from target parental height. Multiple regression analysis with the first year height as the dependent variable and peak stimulated GH was the primary endpoint. The predictive value of adding each of the other variables was then assessed. Mean change in height velocity was similar among the three groups, with a maximum difference among the groups of 0.6 cm/yr. There was a small but statistically significant correlation (r=-0.12) between the stimulated GH and first year height velocity. The small correlation between first year growth response and peak GH is not clinically relevant in defining GH resistance. No cut off level by peak GH could be determined to enhance the usefulness of this measure to predict response. Baseline age was the only clinically significant predictor, R-squared, 6.4%. All other variables contributed less than an additional 2% to the R-squared.

A case of phace syndrome and acquired hypopituitarism?

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Denzer Friederike

2012-06-01

Full Text Available Abstract Background PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. Case vignette We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. Conclusions This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

Deficits in recognition, identification, and discrimination of facial emotions in patients with bipolar disorder.

Science.gov (United States)

Benito, Adolfo; Lahera, Guillermo; Herrera, Sara; Muncharaz, Ramón; Benito, Guillermo; Fernández-Liria, Alberto; Montes, José Manuel

2013-01-01

To analyze the recognition, identification, and discrimination of facial emotions in a sample of outpatients with bipolar disorder (BD). Forty-four outpatients with diagnosis of BD and 48 matched control subjects were selected. Both groups were assessed with tests for recognition (Emotion Recognition-40 - ER40), identification (Facial Emotion Identification Test - FEIT), and discrimination (Facial Emotion Discrimination Test - FEDT) of facial emotions, as well as a theory of mind (ToM) verbal test (Hinting Task). Differences between groups were analyzed, controlling the influence of mild depressive and manic symptoms. Patients with BD scored significantly lower than controls on recognition (ER40), identification (FEIT), and discrimination (FEDT) of emotions. Regarding the verbal measure of ToM, a lower score was also observed in patients compared to controls. Patients with mild syndromal depressive symptoms obtained outcomes similar to patients in euthymia. A significant correlation between FEDT scores and global functioning (measured by the Functioning Assessment Short Test, FAST) was found. These results suggest that, even in euthymia, patients with BD experience deficits in recognition, identification, and discrimination of facial emotions, with potential functional implications.

[Peripheral facial nerve lesion induced long-term dendritic retraction in pyramidal cortico-facial neurons].

Science.gov (United States)

Urrego, Diana; Múnera, Alejandro; Troncoso, Julieta

2011-01-01

Little evidence is available concerning the morphological modifications of motor cortex neurons associated with peripheral nerve injuries, and the consequences of those injuries on post lesion functional recovery. Dendritic branching of cortico-facial neurons was characterized with respect to the effects of irreversible facial nerve injury. Twenty-four adult male rats were distributed into four groups: sham (no lesion surgery), and dendritic assessment at 1, 3 and 5 weeks post surgery. Eighteen lesion animals underwent surgical transection of the mandibular and buccal branches of the facial nerve. Dendritic branching was examined by contralateral primary motor cortex slices stained with the Golgi-Cox technique. Layer V pyramidal (cortico-facial) neurons from sham and injured animals were reconstructed and their dendritic branching was compared using Sholl analysis. Animals with facial nerve lesions displayed persistent vibrissal paralysis throughout the five week observation period. Compared with control animal neurons, cortico-facial pyramidal neurons of surgically injured animals displayed shrinkage of their dendritic branches at statistically significant levels. This shrinkage persisted for at least five weeks after facial nerve injury. Irreversible facial motoneuron axonal damage induced persistent dendritic arborization shrinkage in contralateral cortico-facial neurons. This morphological reorganization may be the physiological basis of functional sequelae observed in peripheral facial palsy patients.

Functional integration of the posterior superior temporal sulcus correlates with facial expression recognition.

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Wang, Xu; Song, Yiying; Zhen, Zonglei; Liu, Jia

2016-05-01

Face perception is essential for daily and social activities. Neuroimaging studies have revealed a distributed face network (FN) consisting of multiple regions that exhibit preferential responses to invariant or changeable facial information. However, our understanding about how these regions work collaboratively to facilitate facial information processing is limited. Here, we focused on changeable facial information processing, and investigated how the functional integration of the FN is related to the performance of facial expression recognition. To do so, we first defined the FN as voxels that responded more strongly to faces than objects, and then used a voxel-based global brain connectivity method based on resting-state fMRI to characterize the within-network connectivity (WNC) of each voxel in the FN. By relating the WNC and performance in the "Reading the Mind in the Eyes" Test across participants, we found that individuals with stronger WNC in the right posterior superior temporal sulcus (rpSTS) were better at recognizing facial expressions. Further, the resting-state functional connectivity (FC) between the rpSTS and right occipital face area (rOFA), early visual cortex (EVC), and bilateral STS were positively correlated with the ability of facial expression recognition, and the FCs of EVC-pSTS and OFA-pSTS contributed independently to facial expression recognition. In short, our study highlights the behavioral significance of intrinsic functional integration of the FN in facial expression processing, and provides evidence for the hub-like role of the rpSTS for facial expression recognition. Hum Brain Mapp 37:1930-1940, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Facial Pain Followed by Unilateral Facial Nerve Palsy: A Case Report with Literature Review

OpenAIRE

GV, Sowmya; BS, Manjunatha; Goel, Saurabh; Singh, Mohit Pal; Astekar, Madhusudan

2014-01-01

Peripheral facial nerve palsy is the commonest cranial nerve motor neuropathy. The causes range from cerebrovascular accident to iatrogenic damage, but there are few reports of facial nerve paralysis attributable to odontogenic infections. In majority of the cases, recovery of facial muscle function begins within first three weeks after onset. This article reports a unique case of 32-year-old male patient who developed facial pain followed by unilateral facial nerve paralysis due to odontogen...

Facial infiltrative lipomatosis

International Nuclear Information System (INIS)

Haloi, A.K.; Ditchfield, M.; Pennington, A.; Philips, R.

2006-01-01

Although there are multiple case reports and small series concerning facial infiltrative lipomatosis, there is no composite radiological description of the condition. Radiological evaluation of facial infiltrative lipomatosis using plain film, sonography, CT and MRI. We radiologically evaluated four patients with facial infiltrative lipomatosis. Initial plain radiographs of the face were acquired in all patients. Three children had an initial sonographic examination to evaluate the condition, followed by MRI. One child had a CT and then MRI. One child had abnormalities on plain radiographs. Sonographically, the lesions were seen as ill-defined heterogeneously hypoechoic areas with indistinct margins. On CT images, the lesions did not have a homogeneous fat density but showed some relatively more dense areas in deeper parts of the lesions. MRI provided better delineation of the exact extent of the process and characterization of facial infiltrative lipomatosis. Facial infiltrative lipomatosis should be considered as a differential diagnosis of vascular or lymphatic malformation when a child presents with unilateral facial swelling. MRI is the most useful single imaging modality to evaluate the condition, as it provides the best delineation of the exact extent of the process. (orig.)

Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals

NARCIS (Netherlands)

Bouwman, Aniek C.; Daetwyler, Hans D.; Chamberlain, Amanda J.; Ponce, Carla Hurtado; Sargolzaei, Mehdi; Schenkel, Flavio S.; Sahana, Goutam; Govignon-Gion, Armelle; Boitard, Simon; Dolezal, Marlies; Pausch, Hubert; Brøndum, Rasmus F.; Bowman, Phil J.; Thomsen, Bo; Guldbrandtsen, Bernt; Lund, Mogens S.; Servin, Bertrand; Garrick, Dorian J.; Reecy, James; Vilkki, Johanna; Bagnato, Alessandro; Wang, Min; Hoff, Jesse L.; Schnabel, Robert D.; Taylor, Jeremy F.; Vinkhuyzen, Anna A.E.; Panitz, Frank; Bendixen, Christian; Holm, Lars Erik; Gredler, Birgit; Hozé, Chris; Boussaha, Mekki; Sanchez, Marie Pierre; Rocha, Dominique; Capitan, Aurelien; Tribout, Thierry; Barbat, Anne; Croiseau, Pascal; Drögemüller, Cord; Jagannathan, Vidhya; Vander Jagt, Christy; Crowley, John J.; Bieber, Anna; Purfield, Deirdre C.; Berry, Donagh P.; Emmerling, Reiner; Götz, Kay Uwe; Frischknecht, Mirjam; Russ, Ingolf; Sölkner, Johann; Tassell, van Curtis P.; Fries, Ruedi; Stothard, Paul; Veerkamp, Roel F.; Boichard, Didier; Goddard, Mike E.; Hayes, Ben J.

2018-01-01

Stature is affected by many polymorphisms of small effect in humans1. In contrast, variation in dogs, even within breeds, has been suggested to be largely due to variants in a small number of genes2,3. Here we use data from cattle to compare the genetic architecture of stature to those in humans and

Hipertensão, obesidade abdominal e baixa estatura: aspectos da transição nutricional em uma população favelada Hypertension, abdominal obesity and short stature: aspects of nutritional transition within a shantytown in the city of Maceió (Northeastern Brazil

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Haroldo da Silva Ferreira

2005-04-01

Full Text Available OBJETIVO: Investigar, em mulheres de muito baixa renda, a prevalência e a associação entre a baixa estatura, o sobrepeso, a obesidade abdominal e a hipertensão arterial, discutindo os achados, segundo o processo de transição nutricional e a hipótese da programação fetal (hipótese Barker. MÉTODOS: Foram estudadas 223 mulheres de 18 a 65 anos, por meio dos seguintes indicadores: índice de massa corporal (kg/m² >25 para sobrepeso + obesidade ou 0,8 para obesidade abdominal; pressão arterial sistólica e/ou diastólica >140/90mmHg para hipertensão; percentil 25 (1º quartil para baixa estatura. RESULTADOS: A prevalência de sobrepeso + obesidade (35,9% foi superior à de magreza (9,4%. A pressão diastólica associou-se com o índice de massa corporal (r=0,37; IC 95%: 0,01 OBJECTIVE: To investigate the frequency of occurrence of short stature, overweight, abdominal obesity and arterial hypertension, and the possible correlations among such factors, in women of very low income. The findings were considered in terms of nutrition transition and the Barker's programming hypothesis. METHODS: A group of 223 women, 18 to 65 years of age, were studied with respect to the following parameters: for body mass index (kg/m², values >25 indicated overweight and obesity, whilst values 0.8 indicated abdominal adiposity; for systolic/diastolic blood pressure, values >140/90 mm Hg indicated hypertension; and for height, values within the 25th percentile (1st quartile indicated short stature. RESULTS: The frequency of occurrence of overweight and obesity (present in 35.9% of the group was greater than that of underweight (9.4% of the group. The diastolic blood pressure was positively associated with body mass index (r= 0.37; CI 95,0%: 0.01

The role of encoding and attention in facial emotion memory: an EEG investigation.

Science.gov (United States)

Brenner, Colleen A; Rumak, Samuel P; Burns, Amy M N; Kieffaber, Paul D

2014-09-01

Facial expressions are encoded via sensory mechanisms, but meaning extraction and salience of these expressions involve cognitive functions. We investigated the time course of sensory encoding and subsequent maintenance in memory via EEG. Twenty-nine healthy participants completed a facial emotion delayed match-to-sample task. P100, N170 and N250 ERPs were measured in response to the first stimulus, and evoked theta power (4-7Hz) was measured during the delay interval. Negative facial expressions produced larger N170 amplitudes and greater theta power early in the delay. N170 amplitude correlated with theta power, however larger N170 amplitude coupled with greater theta power only predicted behavioural performance for one emotion condition (very happy) out of six tested (see Supplemental Data). These findings indicate that the N170 ERP may be sensitive to emotional facial expressions when task demands require encoding and retention of this information. Furthermore, sustained theta activity may represent continued attentional processing that supports short-term memory, especially of negative facial stimuli. Further study is needed to investigate the potential influence of these measures, and their interaction, on behavioural performance. Crown Copyright © 2014. Published by Elsevier B.V. All rights reserved.

Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

Science.gov (United States)

Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

2009-07-01

Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

Facial EMG responses to emotional expressions are related to emotion perception ability.

Directory of Open Access Journals (Sweden)

Janina Künecke

Full Text Available Although most people can identify facial expressions of emotions well, they still differ in this ability. According to embodied simulation theories understanding emotions of others is fostered by involuntarily mimicking the perceived expressions, causing a "reactivation" of the corresponding mental state. Some studies suggest automatic facial mimicry during expression viewing; however, findings on the relationship between mimicry and emotion perception abilities are equivocal. The present study investigated individual differences in emotion perception and its relationship to facial muscle responses - recorded with electromyogram (EMG--in response to emotional facial expressions. N° = °269 participants completed multiple tasks measuring face and emotion perception. EMG recordings were taken from a subsample (N° = °110 in an independent emotion classification task of short videos displaying six emotions. Confirmatory factor analyses of the m. corrugator supercilii in response to angry, happy, sad, and neutral expressions showed that individual differences in corrugator activity can be separated into a general response to all faces and an emotion-related response. Structural equation modeling revealed a substantial relationship between the emotion-related response and emotion perception ability, providing evidence for the role of facial muscle activation in emotion perception from an individual differences perspective.

Sex differences in facial emotion recognition across varying expression intensity levels from videos.

Science.gov (United States)

Wingenbach, Tanja S H; Ashwin, Chris; Brosnan, Mark

2018-01-01

There has been much research on sex differences in the ability to recognise facial expressions of emotions, with results generally showing a female advantage in reading emotional expressions from the face. However, most of the research to date has used static images and/or 'extreme' examples of facial expressions. Therefore, little is known about how expression intensity and dynamic stimuli might affect the commonly reported female advantage in facial emotion recognition. The current study investigated sex differences in accuracy of response (Hu; unbiased hit rates) and response latencies for emotion recognition using short video stimuli (1sec) of 10 different facial emotion expressions (anger, disgust, fear, sadness, surprise, happiness, contempt, pride, embarrassment, neutral) across three variations in the intensity of the emotional expression (low, intermediate, high) in an adolescent and adult sample (N = 111; 51 male, 60 female) aged between 16 and 45 (M = 22.2, SD = 5.7). Overall, females showed more accurate facial emotion recognition compared to males and were faster in correctly recognising facial emotions. The female advantage in reading expressions from the faces of others was unaffected by expression intensity levels and emotion categories used in the study. The effects were specific to recognition of emotions, as males and females did not differ in the recognition of neutral faces. Together, the results showed a robust sex difference favouring females in facial emotion recognition using video stimuli of a wide range of emotions and expression intensity variations.

Sex differences in facial emotion recognition across varying expression intensity levels from videos

Science.gov (United States)

2018-01-01

There has been much research on sex differences in the ability to recognise facial expressions of emotions, with results generally showing a female advantage in reading emotional expressions from the face. However, most of the research to date has used static images and/or ‘extreme’ examples of facial expressions. Therefore, little is known about how expression intensity and dynamic stimuli might affect the commonly reported female advantage in facial emotion recognition. The current study investigated sex differences in accuracy of response (Hu; unbiased hit rates) and response latencies for emotion recognition using short video stimuli (1sec) of 10 different facial emotion expressions (anger, disgust, fear, sadness, surprise, happiness, contempt, pride, embarrassment, neutral) across three variations in the intensity of the emotional expression (low, intermediate, high) in an adolescent and adult sample (N = 111; 51 male, 60 female) aged between 16 and 45 (M = 22.2, SD = 5.7). Overall, females showed more accurate facial emotion recognition compared to males and were faster in correctly recognising facial emotions. The female advantage in reading expressions from the faces of others was unaffected by expression intensity levels and emotion categories used in the study. The effects were specific to recognition of emotions, as males and females did not differ in the recognition of neutral faces. Together, the results showed a robust sex difference favouring females in facial emotion recognition using video stimuli of a wide range of emotions and expression intensity variations. PMID:29293674

Sex differences in facial emotion recognition across varying expression intensity levels from videos.

Directory of Open Access Journals (Sweden)

Tanja S H Wingenbach

Full Text Available There has been much research on sex differences in the ability to recognise facial expressions of emotions, with results generally showing a female advantage in reading emotional expressions from the face. However, most of the research to date has used static images and/or 'extreme' examples of facial expressions. Therefore, little is known about how expression intensity and dynamic stimuli might affect the commonly reported female advantage in facial emotion recognition. The current study investigated sex differences in accuracy of response (Hu; unbiased hit rates and response latencies for emotion recognition using short video stimuli (1sec of 10 different facial emotion expressions (anger, disgust, fear, sadness, surprise, happiness, contempt, pride, embarrassment, neutral across three variations in the intensity of the emotional expression (low, intermediate, high in an adolescent and adult sample (N = 111; 51 male, 60 female aged between 16 and 45 (M = 22.2, SD = 5.7. Overall, females showed more accurate facial emotion recognition compared to males and were faster in correctly recognising facial emotions. The female advantage in reading expressions from the faces of others was unaffected by expression intensity levels and emotion categories used in the study. The effects were specific to recognition of emotions, as males and females did not differ in the recognition of neutral faces. Together, the results showed a robust sex difference favouring females in facial emotion recognition using video stimuli of a wide range of emotions and expression intensity variations.

Development of the Korean Facial Emotion Stimuli: Korea University Facial Expression Collection 2nd Edition

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Sun-Min Kim

2017-05-01

Full Text Available Background: Developing valid emotional facial stimuli for specific ethnicities creates ample opportunities to investigate both the nature of emotional facial information processing in general and clinical populations as well as the underlying mechanisms of facial emotion processing within and across cultures. Given that most entries in emotional facial stimuli databases were developed with western samples, and given that very few of the eastern emotional facial stimuli sets were based strictly on the Ekman’s Facial Action Coding System, developing valid emotional facial stimuli of eastern samples remains a high priority.Aims: To develop and examine the psychometric properties of six basic emotional facial stimuli recruiting professional Korean actors and actresses based on the Ekman’s Facial Action Coding System for the Korea University Facial Expression Collection-Second Edition (KUFEC-II.Materials And Methods: Stimulus selection was done in two phases. First, researchers evaluated the clarity and intensity of each stimulus developed based on the Facial Action Coding System. Second, researchers selected a total of 399 stimuli from a total of 57 actors and actresses, which were then rated on accuracy, intensity, valence, and arousal by 75 independent raters.Conclusion: The hit rates between the targeted and rated expressions of the KUFEC-II were all above 80%, except for fear (50% and disgust (63%. The KUFEC-II appears to be a valid emotional facial stimuli database, providing the largest set of emotional facial stimuli. The mean intensity score was 5.63 (out of 7, suggesting that the stimuli delivered the targeted emotions with great intensity. All positive expressions were rated as having a high positive valence, whereas all negative expressions were rated as having a high negative valence. The KUFEC II is expected to be widely used in various psychological studies on emotional facial expression. KUFEC-II stimuli can be obtained through

Caricaturing facial expressions.

Science.gov (United States)

Calder, A J; Rowland, D; Young, A W; Nimmo-Smith, I; Keane, J; Perrett, D I

2000-08-14

The physical differences between facial expressions (e.g. fear) and a reference norm (e.g. a neutral expression) were altered to produce photographic-quality caricatures. In Experiment 1, participants rated caricatures of fear, happiness and sadness for their intensity of these three emotions; a second group of participants rated how 'face-like' the caricatures appeared. With increasing levels of exaggeration the caricatures were rated as more emotionally intense, but less 'face-like'. Experiment 2 demonstrated a similar relationship between emotional intensity and level of caricature for six different facial expressions. Experiments 3 and 4 compared intensity ratings of facial expression caricatures prepared relative to a selection of reference norms - a neutral expression, an average expression, or a different facial expression (e.g. anger caricatured relative to fear). Each norm produced a linear relationship between caricature and rated intensity of emotion; this finding is inconsistent with two-dimensional models of the perceptual representation of facial expression. An exemplar-based multidimensional model is proposed as an alternative account.

Parotidectomía y vena facial Parotidectomy and facial vein

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F. Hernández Altemir

2009-10-01

Full Text Available La cirugía de los tumores benignos de la parótida, es una cirugía de relaciones con estructuras fundamentalmente nerviosas cuyo daño, representa un gravísimo problema psicosomático por definirlo de una manera genérica. Para ayudar al manejo quirúrgico del nervio facial periférico, es por lo que en el presente artículo tratamos de enfatizar la importancia de la vena facial en la disección y conservación del nervio, precisamente donde su disección suele ser más comprometida, esto es en las ramas más caudales. El trabajo que vamos a desarrollar hay que verlo pues, como un ensalzamiento de las estructuras venosas en el seguimiento y control del nervio facial periférico y de porqué no, el nervio auricular mayor no siempre suficientemente valorado en la cirugía de la parótida al perder protagonismo con el facial.Benign parotid tumor surgery is related to fundamental nervous structures, defined simply: that when damaged cause great psychosomatic problems. In order to make peripheral facial nerve surgery easy to handle for the surgeon this article emphasizes the importance of the facial vein in the dissection and conservation of the nerve. Its dissection can be compromised if the caudal branches are damaged. The study that we develop should be seen as praise for the vein structures in the follow up and control of the peripheral facial nerve, and the main auricular nerve that is often undervalued when it is no longer the protagonist in the face.

Enhancing facial features by using clear facial features

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Rofoo, Fanar Fareed Hanna

2017-09-01

The similarity of features between individuals of same ethnicity motivated the idea of this project. The idea of this project is to extract features of clear facial image and impose them on blurred facial image of same ethnic origin as an approach to enhance a blurred facial image. A database of clear images containing 30 individuals equally divided to five different ethnicities which were Arab, African, Chines, European and Indian. Software was built to perform pre-processing on images in order to align the features of clear and blurred images. And the idea was to extract features of clear facial image or template built from clear facial images using wavelet transformation to impose them on blurred image by using reverse wavelet. The results of this approach did not come well as all the features did not align together as in most cases the eyes were aligned but the nose or mouth were not aligned. Then we decided in the next approach to deal with features separately but in the result in some cases a blocky effect was present on features due to not having close matching features. In general the available small database did not help to achieve the goal results, because of the number of available individuals. The color information and features similarity could be more investigated to achieve better results by having larger database as well as improving the process of enhancement by the availability of closer matches in each ethnicity.

Facial reanimation by muscle-nerve neurotization after facial nerve sacrifice. Case report.

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Taupin, A; Labbé, D; Babin, E; Fromager, G

2016-12-01

Recovering a certain degree of mimicry after sacrifice of the facial nerve is a clinically recognized finding. The authors report a case of hemifacial reanimation suggesting a phenomenon of neurotization from muscle-to-nerve. A woman benefited from a parotidectomy with sacrifice of the left facial nerve indicated for recurrent tumor in the gland. The distal branches of the facial nerve, isolated at the time of resection, were buried in the masseter muscle underneath. The patient recovered a voluntary hémifacial motricity. The electromyographic analysis of the motor activity of the zygomaticus major before and after block of the masseter nerve showed a dependence between mimic muscles and the masseter muscle. Several hypotheses have been advanced to explain the spontaneous reanimation of facial paralysis. The clinical case makes it possible to argue in favor of muscle-to-nerve neurotization from masseter muscle to distal branches of the facial nerve. It illustrates the quality of motricity that can be obtained thanks to this procedure. The authors describe a simple implantation technique of distal branches of the facial nerve in the masseter muscle during a radical parotidectomy with facial nerve sacrifice and recovery of resting tone but also a quality voluntary mimicry. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Representing affective facial expressions for robots and embodied conversational agents by facial landmarks

NARCIS (Netherlands)

Liu, C.; Ham, J.R.C.; Postma, E.O.; Midden, C.J.H.; Joosten, B.; Goudbeek, M.

2013-01-01

Affective robots and embodied conversational agents require convincing facial expressions to make them socially acceptable. To be able to virtually generate facial expressions, we need to investigate the relationship between technology and human perception of affective and social signals. Facial

Recurrent unilateral facial nerve palsy in a child with dehiscent facial nerve canal

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Christopher Liu

2016-12-01

Full Text Available Objective: The dehiscent facial nerve canal has been well documented in histopathological studies of temporal bones as well as in clinical setting. We describe clinical and radiologic features of a child with recurrent facial nerve palsy and dehiscent facial nerve canal. Methods: Retrospective chart review. Results: A 5-year-old male was referred to the otolaryngology clinic for evaluation of recurrent acute otitis media and hearing loss. He also developed recurrent left peripheral FN palsy associated with episodes of bilateral acute otitis media. High resolution computed tomography of the temporal bones revealed incomplete bony coverage of the tympanic segment of the left facial nerve. Conclusions: Recurrent peripheral FN palsy may occur in children with recurrent acute otitis media in the presence of a dehiscent facial nerve canal. Facial nerve canal dehiscence should be considered in the differential diagnosis of children with recurrent peripheral FN palsy.

Pediatric facial injuries: It's management

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Singh, Geeta; Mohammad, Shadab; Pal, U. S.; Hariram,; Malkunje, Laxman R.; Singh, Nimisha

2011-01-01

Background: Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. Purpose: To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Materials and Methods: Sixty child patients with facial trauma were selected rando...

Facial Sports Injuries

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... the patient has HIV or hepatitis. Facial Fractures Sports injuries can cause potentially serious broken bones or fractures of the face. Common symptoms of facial fractures include: swelling and bruising, ...

Singing emotionally: A study of pre-production, production, and post-production facial expressions

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Lena Rachel Quinto

2014-04-01

Full Text Available Singing involves vocal production accompanied by a dynamic and meaningful use of facial expressions, which may serve as ancillary gestures that complement, disambiguate, or reinforce the acoustic signal. In this investigation, we examined the use of facial movements to communicate emotion, focusing on movements arising in three epochs: before vocalisation (pre-production, during vocalisation (production, and immediately after vocalisation (post-production. The stimuli were recordings of seven vocalists’ facial movements as they sang short (14 syllable melodic phrases with the intention of communicating happiness, sadness, irritation, or no emotion. Facial movements were presented as point-light displays to 16 observers who judged the emotion conveyed. Experiment 1 revealed that the accuracy of emotional judgement varied with singer, emotion and epoch. Accuracy was highest in the production epoch, however, happiness was well communicated in the pre-production epoch. In Experiment 2, observers judged point-light displays of exaggerated movements. The ratings suggested that the extent of facial and head movements is largely perceived as a gauge of emotional arousal. In Experiment 3, observers rated point-light displays of scrambled movements. Configural information was removed in these stimuli but velocity and acceleration were retained. Exaggerated scrambled movements were likely to be associated with happiness or irritation whereas unexaggerated scrambled movements were more likely to be identified as neutral. An analysis of the motions of singers revealed systematic changes in facial movement as a function of the emotional intentions of singers. The findings confirm the central role of facial expressions in vocal emotional communication, and highlight individual differences between singers in the amount and intelligibility of facial movements made before, during, and after vocalization.

Outcome of a graduated minimally invasive facial reanimation in patients with facial paralysis.

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Holtmann, Laura C; Eckstein, Anja; Stähr, Kerstin; Xing, Minzhi; Lang, Stephan; Mattheis, Stefan

2017-08-01

Peripheral paralysis of the facial nerve is the most frequent of all cranial nerve disorders. Despite advances in facial surgery, the functional and aesthetic reconstruction of a paralyzed face remains a challenge. Graduated minimally invasive facial reanimation is based on a modular principle. According to the patients' needs, precondition, and expectations, the following modules can be performed: temporalis muscle transposition and facelift, nasal valve suspension, endoscopic brow lift, and eyelid reconstruction. Applying a concept of a graduated minimally invasive facial reanimation may help minimize surgical trauma and reduce morbidity. Twenty patients underwent a graduated minimally invasive facial reanimation. A retrospective chart review was performed with a follow-up examination between 1 and 8 months after surgery. The FACEgram software was used to calculate pre- and postoperative eyelid closure, the level of brows, nasal, and philtral symmetry as well as oral commissure position at rest and oral commissure excursion with smile. As a patient-oriented outcome parameter, the Glasgow Benefit Inventory questionnaire was applied. There was a statistically significant improvement in the postoperative score of eyelid closure, brow asymmetry, nasal asymmetry, philtral asymmetry as well as oral commissure symmetry at rest (p facial nerve repair or microneurovascular tissue transfer cannot be applied, graduated minimally invasive facial reanimation is a promising option to restore facial function and symmetry at rest.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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Weigel Corina

2005-04-01

Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

Does Facial Amimia Impact the Recognition of Facial Emotions? An EMG Study in Parkinson’s Disease

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Argaud, Soizic; Delplanque, Sylvain; Houvenaghel, Jean-François; Auffret, Manon; Duprez, Joan; Vérin, Marc; Grandjean, Didier; Sauleau, Paul

2016-01-01

According to embodied simulation theory, understanding other people’s emotions is fostered by facial mimicry. However, studies assessing the effect of facial mimicry on the recognition of emotion are still controversial. In Parkinson’s disease (PD), one of the most distinctive clinical features is facial amimia, a reduction in facial expressiveness, but patients also show emotional disturbances. The present study used the pathological model of PD to examine the role of facial mimicry on emotion recognition by investigating EMG responses in PD patients during a facial emotion recognition task (anger, joy, neutral). Our results evidenced a significant decrease in facial mimicry for joy in PD, essentially linked to the absence of reaction of the zygomaticus major and the orbicularis oculi muscles in response to happy avatars, whereas facial mimicry for expressions of anger was relatively preserved. We also confirmed that PD patients were less accurate in recognizing positive and neutral facial expressions and highlighted a beneficial effect of facial mimicry on the recognition of emotion. We thus provide additional arguments for embodied simulation theory suggesting that facial mimicry is a potential lever for therapeutic actions in PD even if it seems not to be necessarily required in recognizing emotion as such. PMID:27467393

Preliminary results in single-step wound closure procedure of full-thickness facial burns in children by using the collagen-elastin matrix and review of pediatric facial burns.

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Demircan, Mehmet; Cicek, Tugrul; Yetis, Muhammed Ikbal

2015-09-01

Management of full-thickness facial burns remains one of the greatest challenges. Controversy exists among surgeons regarding the use of early excision for facial burns. Unfortunately, delayed excision of deeper burns often results in more scarring and subsequent reconstruction becomes more difficult. A collagen-elastin matrix is used to improve the quality of the reconstructed skin, to reduce scarring and to prevent wound contraction. It serves as a foundation for split thickness skin graft and enhances short and long-term results. We report the usage of a collagen-elastin matrix during single-step wound closure technique of severe full-thickness facial burns in 15 children with large burned body surface area, and also we review the literature about pediatric facial burns. There were 15 pediatric patients with severe facial burns, 8 girls and 7 boys ranging in age from 10 months to 12 years, mean age 7 years and 6 months old. The facial burn surface area (FBSA) among the patients includes seven patients with 100%, five with 75%, and three with 50%. The average total body surface area (TBSA) for the patients was 72%, ranging between 50 and 90%. 5 of the patients' admissions were late, more than four days after burns while the rest of the patients were admitted within the first four days (acute admission time). The burns were caused by flame in eight of the patients, bomb blast in four, and scalding in three. All patients were treated by the simultaneous application of the collagen-elastin matrix and an unmeshed split thickness skin graft at Turgut Özal Medical Center, Pediatric Burn Center, Malatya, Turkey. After the treatment only two patients needed a second operation for revision of the grafts. All grafts transplanted to the face survived. The average Vancouver scar scales (VSS) were 2.55±1.42, ranging between one and six, in the first 10 of 15 patients at the end of 6 months postoperatively. VSS measurements of the last 5 patients were not taken since the 6

Incongruence Between Observers’ and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli

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Tanja S. H. Wingenbach

2018-06-01

Full Text Available According to embodied cognition accounts, viewing others’ facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others’ facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a explicit imitation of viewed facial emotional expressions (stimulus-congruent condition, (b pen-holding with the lips (stimulus-incongruent condition, and (c passive viewing (control condition. It was hypothesised that (1 experimental condition (a and (b result in greater facial muscle activity than (c, (2 experimental condition (a increases emotion recognition accuracy from others’ faces compared to (c, (3 experimental condition (b lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c. Participants (42 males, 42 females underwent a facial emotion recognition experiment (ADFES-BIV while electromyography (EMG was recorded from five facial muscle sites. The experimental conditions’ order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed.

Incongruence Between Observers' and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli.

Science.gov (United States)

Wingenbach, Tanja S H; Brosnan, Mark; Pfaltz, Monique C; Plichta, Michael M; Ashwin, Chris

2018-01-01

According to embodied cognition accounts, viewing others' facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others' facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others' faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions' order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed.

Incongruence Between Observers’ and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli

Science.gov (United States)

Wingenbach, Tanja S. H.; Brosnan, Mark; Pfaltz, Monique C.; Plichta, Michael M.; Ashwin, Chris

2018-01-01

According to embodied cognition accounts, viewing others’ facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others’ facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others’ faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions’ order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed. PMID:29928240

Facial orientation and facial shape in extant great apes: a geometric morphometric analysis of covariation.

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Neaux, Dimitri; Guy, Franck; Gilissen, Emmanuel; Coudyzer, Walter; Vignaud, Patrick; Ducrocq, Stéphane

2013-01-01

The organization of the bony face is complex, its morphology being influenced in part by the rest of the cranium. Characterizing the facial morphological variation and craniofacial covariation patterns in extant hominids is fundamental to the understanding of their evolutionary history. Numerous studies on hominid facial shape have proposed hypotheses concerning the relationship between the anterior facial shape, facial block orientation and basicranial flexion. In this study we test these hypotheses in a sample of adult specimens belonging to three extant hominid genera (Homo, Pan and Gorilla). Intraspecific variation and covariation patterns are analyzed using geometric morphometric methods and multivariate statistics, such as partial least squared on three-dimensional landmarks coordinates. Our results indicate significant intraspecific covariation between facial shape, facial block orientation and basicranial flexion. Hominids share similar characteristics in the relationship between anterior facial shape and facial block orientation. Modern humans exhibit a specific pattern in the covariation between anterior facial shape and basicranial flexion. This peculiar feature underscores the role of modern humans' highly-flexed basicranium in the overall integration of the cranium. Furthermore, our results are consistent with the hypothesis of a relationship between the reduction of the value of the cranial base angle and a downward rotation of the facial block in modern humans, and to a lesser extent in chimpanzees.

Treatment of facial lipoatrophy with polymethylmethacrylate among patients with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): impact on the quality of life.

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Quintas, Rodrigo C S; de França, Emmanuel R; de Petribú, Kátia C L; Ximenes, Ricardo A A; Quintas, Lóren F F M; Cavalcanti, Ernando L F; Kitamura, Marco A P; Magalhães, Kássia A A; Paiva, Késsia C F; Filho, Demócrito B Miranda

2014-04-01

The lipodystrophy syndrome is characterized by selective loss of subcutaneous fat on the face and extremities (lipoatrophy) and/or accumulation of fat around the neck, abdomen, and thorax (lipohypertrophy). The aim of this study has been to assess the impact of polymethylmethacrylate facial treatment on quality of life, self-perceived facial image, and the severity of depressive symptoms in patients living with HIV/AIDS. A non-randomized before and after interventional study was developed. Fifty-one patients underwent facial filling. The self-perceived quality of life, facial image, and degree of depressive symptoms were measured by the Short-Form 36 and HIV/AIDS--Targeted quality of life questionnaires, by a visual analogue scale and by the Beck depression inventory, respectively, before and three months after treatment. Six of the eight domains of Short-Form 36 and eight of the nine dimensions of the HIV/AIDS--Targeted quality of life questionnaires, together with the visual analogue scale and by the Beck depression inventory scores, revealed a statistically significant improvement. The only adverse effects registered were edema and ecchymosis. The treatment of facial lipoatrophy improved the self-perceived quality of life and facial image as well as any depressive symptoms among patients with HIV/AIDS. © 2014 The International Society of Dermatology.

Hypoglossal-facial nerve "side"-to-side neurorrhaphy for facial paralysis resulting from closed temporal bone fractures.

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Su, Diya; Li, Dezhi; Wang, Shiwei; Qiao, Hui; Li, Ping; Wang, Binbin; Wan, Hong; Schumacher, Michael; Liu, Song

2018-06-06

Closed temporal bone fractures due to cranial trauma often result in facial nerve injury, frequently inducing incomplete facial paralysis. Conventional hypoglossal-facial nerve end-to-end neurorrhaphy may not be suitable for these injuries because sacrifice of the lesioned facial nerve for neurorrhaphy destroys the remnant axons and/or potential spontaneous innervation. we modified the classical method by hypoglossal-facial nerve "side"-to-side neurorrhaphy using an interpositional predegenerated nerve graft to treat these injuries. Five patients who experienced facial paralysis resulting from closed temporal bone fractures due to cranial trauma were treated with the "side"-to-side neurorrhaphy. An additional 4 patients did not receive the neurorrhaphy and served as controls. Before treatment, all patients had suffered House-Brackmann (H-B) grade V or VI facial paralysis for a mean of 5 months. During the 12-30 months of follow-up period, no further detectable deficits were observed, but an improvement in facial nerve function was evidenced over time in the 5 neurorrhaphy-treated patients. At the end of follow-up, the improved facial function reached H-B grade II in 3, grade III in 1 and grade IV in 1 of the 5 patients, consistent with the electrophysiological examinations. In the control group, two patients showed slightly spontaneous innervation with facial function improved from H-B grade VI to V, and the other patients remained unchanged at H-B grade V or VI. We concluded that the hypoglossal-facial nerve "side"-to-side neurorrhaphy can preserve the injured facial nerve and is suitable for treating significant incomplete facial paralysis resulting from closed temporal bone fractures, providing an evident beneficial effect. Moreover, this treatment may be performed earlier after the onset of facial paralysis in order to reduce the unfavorable changes to the injured facial nerve and atrophy of its target muscles due to long-term denervation and allow axonal

[Descending hypoglossal branch-facial nerve anastomosis in treating unilateral facial palsy after acoustic neuroma resection].

Science.gov (United States)

Liang, Jiantao; Li, Mingchu; Chen, Ge; Guo, Hongchuan; Zhang, Qiuhang; Bao, Yuhai

2015-12-15

To evaluate the efficiency of the descending hypoglossal branch-facial nerve anastomosis for the severe facial palsy after acoustic neuroma resection. The clinical data of 14 patients (6 males, 8 females, average age 45. 6 years old) underwent descending hypoglossal branch-facial nerve anastomosis for treatment of unilateral facial palsy was analyzed retrospectively. All patients previously had undergone resection of a large acoustic neuroma. House-Brackmann (H-B) grading system was used to evaluate the pre-, post-operative and follow up facial nerve function status. 12 cases (85.7%) had long follow up, with an average follow-up period of 24. 6 months. 6 patients had good outcome (H-B 2 - 3 grade); 5 patients had fair outcome (H-B 3 - 4 grade) and 1 patient had poor outcome (H-B 5 grade) Only 1 patient suffered hemitongue myoparalysis owing to the operation. Descending hypoglossal branch-facial nerve anastomosis is effective for facial reanimation, and it has little impact on the function of chewing, swallowing and pronunciation of the patients compared with the traditional hypoglossal-facial nerve anastomosis.

A case of Klippel-Feil syndrome with renal agenesis

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Mehmet Karakoç

2010-05-01

Full Text Available Klippel-Feil syndrome (KFS is is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region.Addititonal features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel’s deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+ / right (+ +. Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of inteverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revelaed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.

The face is not an empty canvas: how facial expressions interact with facial appearance.

Science.gov (United States)

Hess, Ursula; Adams, Reginald B; Kleck, Robert E

2009-12-12

Faces are not simply blank canvases upon which facial expressions write their emotional messages. In fact, facial appearance and facial movement are both important social signalling systems in their own right. We here provide multiple lines of evidence for the notion that the social signals derived from facial appearance on the one hand and facial movement on the other interact in a complex manner, sometimes reinforcing and sometimes contradicting one another. Faces provide information on who a person is. Sex, age, ethnicity, personality and other characteristics that can define a person and the social group the person belongs to can all be derived from the face alone. The present article argues that faces interact with the perception of emotion expressions because this information informs a decoder's expectations regarding an expresser's probable emotional reactions. Facial appearance also interacts more directly with the interpretation of facial movement because some of the features that are used to derive personality or sex information are also features that closely resemble certain emotional expressions, thereby enhancing or diluting the perceived strength of particular expressions.

Short Adolescents Born Small for Gestational Age : Gonadal and thyroid function, bone mineral density, quality of life and adult height: The effects of growth hormone and additional postponement of puberty

NARCIS (Netherlands)

A.J. Lem (Annemieke)

2012-01-01

textabstractFrom 1991, our research group and others have been investigating children with short stature who were born small for gestational age (SGA), both before and during treatment with biosynthetic growth hormone (GH). In 2005, GH treatment was licensed for short SGA children in the

Genetics Home Reference: short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething ...

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... diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild ... is important for many cell activities, including cell growth and division, movement (migration) of cells, production of ...

Accurate landmarking of three-dimensional facial data in the presence of facial expressions and occlusions using a three-dimensional statistical facial feature model.

Science.gov (United States)

Zhao, Xi; Dellandréa, Emmanuel; Chen, Liming; Kakadiaris, Ioannis A

2011-10-01

Three-dimensional face landmarking aims at automatically localizing facial landmarks and has a wide range of applications (e.g., face recognition, face tracking, and facial expression analysis). Existing methods assume neutral facial expressions and unoccluded faces. In this paper, we propose a general learning-based framework for reliable landmark localization on 3-D facial data under challenging conditions (i.e., facial expressions and occlusions). Our approach relies on a statistical model, called 3-D statistical facial feature model, which learns both the global variations in configurational relationships between landmarks and the local variations of texture and geometry around each landmark. Based on this model, we further propose an occlusion classifier and a fitting algorithm. Results from experiments on three publicly available 3-D face databases (FRGC, BU-3-DFE, and Bosphorus) demonstrate the effectiveness of our approach, in terms of landmarking accuracy and robustness, in the presence of expressions and occlusions.

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

International Nuclear Information System (INIS)

Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D.; Hoyer, Andrew W.

2016-01-01

Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report.

Science.gov (United States)

Kawakami, Masayoshi; Yamamoto, Kazuhiko; Shimomura, Tadahiro; Kirita, Tadaaki

2016-03-01

Noonan syndrome, characterized by short stature, facial anomalies, and congenital heart defects, may also be associated with hematopoietic disorders. Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction. We treated a Noonan syndrome patient with a skeletal open bite. Surgical orthodontic treatment including two-jaw surgery established a good occlusal relationship after correction of severe anemia. Both upper and lower incisors were moved to upright positions, while clockwise rotation of the palatal plane and decreased mandibular plane angle were accomplished. Lower masticatory activity may affect posttreatment occlusion in such cases.

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.

Science.gov (United States)

Lo, Fu-Sung; Wang, Chao-Jan; Wong, Mun-Ching; Lee, Ni-Chung

2015-06-01

Moyamoya disease is a unique chronic cerebrovascular condition caused by progressive stenosis of the arteries around the circle of Willis with prominent arterial collateral circulation. Noonan-like syndrome with loose anagen hair (NSLH) is characterized by short stature, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair. Mutations in SHOC2 have been reported to underlie NSLH. In this paper, we describe two individuals with NSLH who also have moyamoya disease and in whom heterozygous germline mutation in SHOC2 was found. © 2015 Wiley Periodicals, Inc.

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

Energy Technology Data Exchange (ETDEWEB)

Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States); Hoyer, Andrew W. [University of Virginia Health System, Department of Pediatrics, Division of Pediatric Cardiology, Charlottesville, VA (United States); Pediatric Cardiology Center of Oregon, Portland, OR (United States)

2016-03-15

Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

Meta-analysis of genome wide association studies for the stature of cattle reveals numerous common genes that regulate size in mammals

Science.gov (United States)

Stature is affected by many polymorphisms of small effect in humans but in contrast variation in dogs, even within breeds is largely due to variants in six genes. Here we use data from cattle to compare genetic architecture of stature to that in humans and dogs. We conducted a meta-analysis for stat...

Impaired Overt Facial Mimicry in Response to Dynamic Facial Expressions in High-Functioning Autism Spectrum Disorders

Science.gov (United States)

Yoshimura, Sayaka; Sato, Wataru; Uono, Shota; Toichi, Motomi

2015-01-01

Previous electromyographic studies have reported that individuals with autism spectrum disorders (ASD) exhibited atypical patterns of facial muscle activity in response to facial expression stimuli. However, whether such activity is expressed in visible facial mimicry remains unknown. To investigate this issue, we videotaped facial responses in…

The MPI facial expression database--a validated database of emotional and conversational facial expressions.

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Kathrin Kaulard

Full Text Available The ability to communicate is one of the core aspects of human life. For this, we use not only verbal but also nonverbal signals of remarkable complexity. Among the latter, facial expressions belong to the most important information channels. Despite the large variety of facial expressions we use in daily life, research on facial expressions has so far mostly focused on the emotional aspect. Consequently, most databases of facial expressions available to the research community also include only emotional expressions, neglecting the largely unexplored aspect of conversational expressions. To fill this gap, we present the MPI facial expression database, which contains a large variety of natural emotional and conversational expressions. The database contains 55 different facial expressions performed by 19 German participants. Expressions were elicited with the help of a method-acting protocol, which guarantees both well-defined and natural facial expressions. The method-acting protocol was based on every-day scenarios, which are used to define the necessary context information for each expression. All facial expressions are available in three repetitions, in two intensities, as well as from three different camera angles. A detailed frame annotation is provided, from which a dynamic and a static version of the database have been created. In addition to describing the database in detail, we also present the results of an experiment with two conditions that serve to validate the context scenarios as well as the naturalness and recognizability of the video sequences. Our results provide clear evidence that conversational expressions can be recognized surprisingly well from visual information alone. The MPI facial expression database will enable researchers from different research fields (including the perceptual and cognitive sciences, but also affective computing, as well as computer vision to investigate the processing of a wider range of natural

ISLAMIC BEAUTY: Socio-Semiotic Analysis of Facial Foam and Body Lotion Advertisement

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Susi Herti Afriani

2012-12-01

Full Text Available This paper attempts to answer how Islamic Women define the concept of beauty in Ponds advertisement white beauty facial foam and body lotion on television. This study uses a socio-semiotic approach described through three aspects of social context, namely field, tenor, and mode. It argues that Ponds’ definition of a beauty only refers to physical standards, that is, women who have white skin and use both Ponds White Beauty Facial Foam and Foam Body Lotion. Further, television through Ponds advertising is considered as a commercial institution that supports the main idea of capitalism. However, Islamic women consider beautiful physically and spiritually. It suggests that the beautiful women are those who obey and surrender to Allah SWT. In short, Islamic women do not agree with the meaning of beauty resulted from Ponds White Beauty Facial Foam and Ponds Body Lotion advertisement. Rather, beauty consists of both body and, more importantly, soul.

Facial EMG responses to dynamic emotional facial expressions in boys with disruptive behavior disorders

NARCIS (Netherlands)

Wied, de M.; Boxtel, van Anton; Zaalberg, R.; Goudena, P.P.; Matthys, W.

2006-01-01

Based on the assumption that facial mimicry is a key factor in emotional empathy, and clinical observations that children with disruptive behavior disorders (DBD) are weak empathizers, the present study explored whether DBD boys are less facially responsive to facial expressions of emotions than

Case Report: A true median facial cleft (crano-facial dysraphia ...

African Journals Online (AJOL)

Case Report: A true median facial cleft (crano-facial dysraphia, atessier type O) in Bingham University Teaching Hospital, Jos. ... Patient had a multidisciplinary care by the obstetrician, Neonatologist, anesthesiologist and the plastic surgery team who scheduled a soft tissue repair of the upper lip defect, columella and ...

Outcome of different facial nerve reconstruction techniques

OpenAIRE

Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

2016-01-01

Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by...

Microbial biofilms on silicone facial prostheses

NARCIS (Netherlands)

Ariani, Nina

2015-01-01

Facial disfigurements can result from oncologic surgery, trauma and congenital deformities. These disfigurements can be rehabilitated with facial prostheses. Facial prostheses are usually made of silicones. A problem of facial prostheses is that microorganisms can colonize their surface. It is hard

Effect of growth hormone therapy and puberty on bone and body composition in children with idiopathic short stature and growth hormone deficiency.

Science.gov (United States)

Högler, Wolfgang; Briody, Julie; Moore, Bin; Lu, Pei Wen; Cowell, Christopher T

2005-11-01

The state of bone health and the effect of growth hormone (GH) therapy on bone and body composition in children with idiopathic short stature (ISS) are largely unknown. A direct role of GH deficiency (GHD) on bone density is controversial. Using dual-energy X-ray absorptiometry, this study measured total body bone mineral content (TB BMC), body composition, and volumetric bone mineral density (vBMD) at the lumbar spine (LS) and femoral neck (FN) in 77 children (aged 3-17 years) with ISS (n = 57) and GHD (n = 20). Fifty-five children (GHD = 13) receiving GH were followed over 24 months including measurement of bone turnover. At diagnosis, size-corrected TB BMC SDS was greater (P bone relation, as assessed by the BMC/lean mass (LTM) ratio SDS was not different between groups. During GH therapy, prepubertal GHD children gained more height (1.58 [0.9] SDS) and LTM (0.87 [0.63] SDS) compared to prepubertal ISS children (0.75 [0.27] and 0.17 [0.25] SDS, respectively). Percent body fat decreased in GHD (-5.94% [4.29]) but not in ISS children. Total body BMC accrual was less than predicted in all groups accompanied by an increase in bone turnover. Puberty led to the greatest absolute, but not relative, increments in weight, LTM, BMI, bone mass, and LSvBMD. Our results show that children with ISS and GHD differ in their response to GH therapy in anthropometry, body composition, and bone measures. Despite low vBMD values at diagnosis in both prepubertal groups, size-corrected regional or TB bone data were generally within the normal range and did not increase during GH therapy in GHD or ISS children. Growth hormone had great effects on the growth plate and body composition with subsequent gains in height, LTM, bone turnover, and bone mass accrual, but no benefit for volumetric bone density over 2 years.

[Facial tics and spasms].

Science.gov (United States)

Potgieser, Adriaan R E; van Dijk, J Marc C; Elting, Jan Willem J; de Koning-Tijssen, Marina A J

2014-01-01

Facial tics and spasms are socially incapacitating, but effective treatment is often available. The clinical picture is sufficient for distinguishing between the different diseases that cause this affliction.We describe three cases of patients with facial tics or spasms: one case of tics, which are familiar to many physicians; one case of blepharospasms; and one case of hemifacial spasms. We discuss the differential diagnosis and the treatment possibilities for facial tics and spasms. Early diagnosis and treatment is important, because of the associated social incapacitation. Botulin toxin should be considered as a treatment option for facial tics and a curative neurosurgical intervention should be considered for hemifacial spasms.

Síndrome de dolor facial

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DR. F. Eugenio Tenhamm

2014-07-01

Full Text Available El dolor o algia facial constituye un síndrome doloroso de las estructuras cráneo faciales bajo el cual se agrupan un gran número de enfermedades. La mejor manera de abordar el diagnóstico diferencial de las entidades que causan el dolor facial es usando un algoritmo que identifica cuatro síndromes dolorosos principales que son: las neuralgias faciales, los dolores faciales con síntomas y signos neurológicos, las cefaleas autonómicas trigeminales y los dolores faciales sin síntomas ni signos neurológicos. Una evaluación clínica detallada de los pacientes, permite una aproximación etiológica lo que orienta el estudio diagnóstico y permite ofrecer una terapia específica a la mayoría de los casos

Outcome of different facial nerve reconstruction techniques.

Science.gov (United States)

Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Reanalysis of the Trotter Tibia Quandary and its Continued Effect on Stature Estimation of Past-Conflict Service Members.

Science.gov (United States)

Lynch, Jeffrey James; Brown, Carrie; Palmiotto, Andrea; Maijanen, Heli; Damann, Franklin

2018-04-23

Forensic casework from past-conflicts relies on the corrected historical Trotter data for stature estimation in Fordisc. For roughly 10 years', stature estimation using this data has produced point estimates for the tibia that are on average 1.25 inches less than the other long bones. This issue was identified after applying the equations derived from Fordisc to the USS Oklahoma commingled assemblage. Reevaluation of Fordisc revealed that a correction factor of 20 mm, instead of 10 mm, was mistakenly applied to the Trotter tibia data. Historical forensic anthropology reports written at the Defense POW/MIA Accounting Agency were utilized to identify that the overcorrection is isolated to Fordisc 3 with an error rate of 5% of known antemortem statures falling outside of the prediction intervals that relied on the tibia. Further evaluation of the Oklahoma sample indicates the 10 mm correction is still producing point estimates less than the other long bones. © 2018 American Academy of Forensic Sciences.

Facial Transplantation Surgery Introduction

OpenAIRE

Eun, Seok-Chan

2015-01-01

Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotranspla...

Outcome of different facial nerve reconstruction techniques

Directory of Open Access Journals (Sweden)

Aboshanif Mohamed

Full Text Available Abstract Introduction: There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. Objective: To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Methods: Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients. All patients had facial function House-Brackmann (HB grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. Results: For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Conclusion: Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique.

Recognizing Facial Expressions Automatically from Video

Science.gov (United States)

Shan, Caifeng; Braspenning, Ralph

Facial expressions, resulting from movements of the facial muscles, are the face changes in response to a person's internal emotional states, intentions, or social communications. There is a considerable history associated with the study on facial expressions. Darwin [22] was the first to describe in details the specific facial expressions associated with emotions in animals and humans, who argued that all mammals show emotions reliably in their faces. Since that, facial expression analysis has been a area of great research interest for behavioral scientists [27]. Psychological studies [48, 3] suggest that facial expressions, as the main mode for nonverbal communication, play a vital role in human face-to-face communication. For illustration, we show some examples of facial expressions in Fig. 1.

Rejuvenecimiento facial en "doble sigma" "Double ogee" facial rejuvenation

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O. M. Ramírez

2007-03-01

Full Text Available Las técnicas subperiósticas descritas por Tessier revolucionaron el tratamiento del envejecimiento facial, recomendando esta vía para tratar los signos tempranos del envejecimiento en pacientes jóvenes y de mediana edad. Psillakis refinó la técnica y Ramírez describió un método más seguro y eficaz de lifting subperióstico, demostrando que la técnica subperióstica de rejuveneciento facial se puede aplicar en el amplio espectro del envejecimiento facial. La introducción del endoscopio en el tratamiento del envejecimiento facial ha abierto una nueva era en la Cirugía Estética. Hoy la disección subperióstica asistida endocópicamente del tercio superior, medio e inferior de la cara, proporciona un medio eficaz para la reposición de los tejidos blandos, con posibilidad de aumento del esqueleto óseo craneofacial, menor edema facial postoperatorio, mínima lesión de las ramas del nervio facial y mejor tratamiento de las mejillas. Este abordaje, desarrollado y refinado durante la última década, se conoce como "Ritidectomía en Doble Sigma". El Arco Veneciano en doble sigma, bien conocido en Arquitectura desde la antigüedad, se caracteriza por ser un trazo armónico de curva convexa y a continuación curva cóncava. Cuando se observa una cara joven, desde un ángulo oblicuo, presenta una distribución característica de los tejidos, previamente descrita para el tercio medio como un arco ojival arquitectónico o una curva en forma de "S". Sin embargo, en un examen más detallado de la cara joven, en la vista de tres cuartos, el perfil completo revela una "arco ojival doble" o una sigma "S" doble. Para ver este recíproco y multicurvilíneo trazo de la belleza, debemos ver la cara en posición oblicua y así poder ver ambos cantos mediales. En esta posición, la cara joven presenta una convexidad característica de la cola de la ceja que confluye en la concavidad de la pared orbitaria lateral formando así el primer arco (superior

Facial transplantation for massive traumatic injuries.

Science.gov (United States)

Alam, Daniel S; Chi, John J

2013-10-01

This article describes the challenges of facial reconstruction and the role of facial transplantation in certain facial defects and injuries. This information is of value to surgeons assessing facial injuries with massive soft tissue loss or injury. Copyright © 2013 Elsevier Inc. All rights reserved.

Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

Science.gov (United States)

Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

2007-04-01

Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma.

Science.gov (United States)

Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M; Ginsberg, Lawrence E; Gidley, Paul W

2014-08-01

Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy.

Advances in facial reanimation.

Science.gov (United States)

Tate, James R; Tollefson, Travis T

2006-08-01

Facial paralysis often has a significant emotional impact on patients. Along with the myriad of new surgical techniques in managing facial paralysis comes the challenge of selecting the most effective procedure for the patient. This review delineates common surgical techniques and reviews state-of-the-art techniques. The options for dynamic reanimation of the paralyzed face must be examined in the context of several patient factors, including age, overall health, and patient desires. The best functional results are obtained with direct facial nerve anastomosis and interpositional nerve grafts. In long-standing facial paralysis, temporalis muscle transfer gives a dependable and quick result. Microvascular free tissue transfer is a reliable technique with reanimation potential whose results continue to improve as microsurgical expertise increases. Postoperative results can be improved with ancillary soft tissue procedures, as well as botulinum toxin. The paper provides an overview of recent advances in facial reanimation, including preoperative assessment, surgical reconstruction options, and postoperative management.

Are Psychosocial Resources Associated With Perceived Facial Aging in Men?

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Emilou Noser MSc

2017-06-01

Full Text Available Background: Looking younger than actual age has been related to a variety of health outcomes. Optimism, self-esteem, and relationship satisfaction are important psychosocial resources for mental health. Little is known about their relation with a younger facial appearance. Objective: This study analyzed whether these psychosocial resources are associated with a younger facial appearance and if their effects were mediated through mental health. Method: A sample of N = 223 self-reporting healthy men aged 40 to 75 years filled in questionnaires to assess optimism (Life Orientation Test–Revised, self-esteem (Multidimensional Self-Esteem Scale, relationship satisfaction (Relationship Assessment Scale, and mental health (Short-Form Health Survey. Five female raters estimated the visual age of each participant from a frontal face photograph. Results: Looking younger (compared with chronological age was correlated with optimism, relationship satisfaction, and mental health. Mediation analyses and structural equation modeling indicated that mental health mediated the association between each psychosocial resource and a younger appearance. Discussion: The results emphasize the importance of promoting psychosocial resources and mental health in men 40+ for the maintenance of good health and the deceleration of facial aging.

Emotional facial expressions reduce neural adaptation to face identity.

Science.gov (United States)

Gerlicher, Anna M V; van Loon, Anouk M; Scholte, H Steven; Lamme, Victor A F; van der Leij, Andries R

2014-05-01

In human social interactions, facial emotional expressions are a crucial source of information. Repeatedly presented information typically leads to an adaptation of neural responses. However, processing seems sustained with emotional facial expressions. Therefore, we tested whether sustained processing of emotional expressions, especially threat-related expressions, would attenuate neural adaptation. Neutral and emotional expressions (happy, mixed and fearful) of same and different identity were presented at 3 Hz. We used electroencephalography to record the evoked steady-state visual potentials (ssVEP) and tested to what extent the ssVEP amplitude adapts to the same when compared with different face identities. We found adaptation to the identity of a neutral face. However, for emotional faces, adaptation was reduced, decreasing linearly with negative valence, with the least adaptation to fearful expressions. This short and straightforward method may prove to be a valuable new tool in the study of emotional processing.

Facial dog bite injuries in children: A case report

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Alessandro Leite Cavalcanti

Full Text Available Introduction: Dog bites are common and can affect victims of different ages, from children to the elderly. Injuries are usually located in different body regions, including head and face. The treatment of choice for injuries is the suture of the lesion, accompanied by antibiotic therapy and tetanus and anti-rabies vaccination. Presentation of case: An 11-year-old male black patient was admitted to the Surgery and Maxillo-Facial Traumatology Service, on an urgent basis, victim of domestic animal aggression (dog biting. The child had multiple and extensive lesions on the face, trauma with laceration with loss of substance, involving the left genic region, lower and upper lip, and lower gingival-labial sulcus. Discussion: Smaller children are especially vulnerable to injuries in the craniofacial region due their low stature, propensity to crawl/play on the ground and exploratory behavior. The primary treatment of bites is by means of direct suture, grafting or local flaps, depending on the type of wound and the surgeon's decision, regardless of time elapsed from the attack. Conclusion: This case shows a case of a child patient victim of animal bite, with lesions limited to the region of the face. The patient was followed up for a month and showed good wound healing without any complications. Keywords: Wounds and injuries, Bites and stings, Maxillofacial injuries, Dogs

Computer Aided Facial Prosthetics Manufacturing System

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Peng H.K.

2016-01-01

Full Text Available Facial deformities can impose burden to the patient. There are many solutions for facial deformities such as plastic surgery and facial prosthetics. However, current fabrication method of facial prosthetics is high-cost and time consuming. This study aimed to identify a new method to construct a customized facial prosthetic. A 3D scanner, computer software and 3D printer were used in this study. Results showed that the new developed method can be used to produce a customized facial prosthetics. The advantages of the developed method over the conventional process are low cost, reduce waste of material and pollution in order to meet the green concept.

Facial biometrics of Yorubas of Nigeria using Akinlolu-Raji image-processing algorithm

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Adelaja Abdulazeez Akinlolu

2016-01-01

Full Text Available Background: Forensic anthropology deals with the establishment of human identity using genetics, biometrics, and face recognition technology. This study aims to compute facial biometrics of Yorubas of Osun State of Nigeria using a novel Akinlolu-Raji image-processing algorithm. Materials and Methods: Three hundred Yorubas of Osun State (150 males and 150 females, aged 15–33 years were selected as subjects for the study with informed consents and when established as Yorubas by parents and grandparents. Height, body weight, and facial biometrics (evaluated on three-dimensional [3D] facial photographs were measured on all subjects. The novel Akinlolu-Raji image-processing algorithm for forensic face recognition was developed using the modified row method of computer programming. Facial width, total face height, short forehead height, long forehead height, upper face height, nasal bridge length, nose height, morphological face height, and lower face height computed from readings of the Akinlolu-Raji image-processing algorithm were analyzed using z-test (P ≤ 0.05 of 2010 Microsoft Excel statistical software. Results: Statistical analyzes of facial measurements showed nonsignificant higher mean values (P > 0.05 in Yoruba males compared to females. Yoruba males and females have the leptoprosopic face type based on classifications of face types from facial indices. Conclusions: Akinlolu-Raji image-processing algorithm can be employed for computing anthropometric, forensic, diagnostic, or any other measurements on 2D and 3D images, and data computed from its readings can be converted to actual or life sizes as obtained in 1D measurements. Furthermore, Yoruba males and females have the leptoprosopic face type.

Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: a case-referent study.

Science.gov (United States)

Versnel, S L; Duivenvoorden, H J; Passchier, J; Mathijssen, I M J

2010-10-01

Patients with severe congenital facial disfigurement have a long track record of operations and hospital visits by the time they are 18 years old. The fact that their facial deformity is congenital may have an impact on how satisfied these patients are with their appearance. This study evaluated the level of satisfaction with facial appearance of congenital and of acquired facially disfigured adults, and explored demographic, physical and psychological determinants of this satisfaction. Differences compared with non-disfigured adults were examined. Fifty-nine adults with a rare facial cleft, 59 adults with a facial deformity traumatically acquired in adulthood, and a reference group of 201 non-disfigured adults completed standardised demographic, physical and psychological questionnaires. The congenital and acquired groups did not differ significantly in the level of satisfaction with facial appearance, but both were significantly less satisfied than the reference group. In facially disfigured adults, level of education, number of affected facial parts and facial function were determinants of the level of satisfaction. High fear of negative appearance evaluation by others (FNAE) and low self-esteem (SE) were strong psychological determinants. Although FNAE was higher in both patient groups, SE was similar in all three groups. Satisfaction with facial appearance of individuals with a congenital or acquired facial deformity is similar and will seldom reach the level of satisfaction of non-disfigured persons. A combination of surgical correction (with attention for facial profile and restoring facial functions) and psychological help (to increase SE and lower FNAE) may improve patient satisfaction. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

P2-28: An Amplification of Feedback from Facial Muscles Strengthened Sympathetic Activations to Emotional Facial Cues

Directory of Open Access Journals (Sweden)

Younbyoung Chae

2012-10-01

Full Text Available The facial feedback hypothesis suggests that feedback from cutaneous and muscular afferents influences our emotions during the control of facial expressions. Enhanced facial expressiveness is correlated with an increase in autonomic arousal, and self-reported emotional experience, while limited facial expression attenuates these responses. The present study was aimed at investigating the difference in emotional response in imitated versus observed facial expressions. For this, we measured the facial electromyogram of the corrugator muscle as well as the skin conductance response (SCR while participants were either imitating or simply observing emotional facial expressions. We found that participants produced significantly greater facial electromyogram activation during imitations compared to observations of angry faces. Similarly, they exhibited significantly greater SCR during imitations to angry faces compared to observations. An amplification of feedback from face muscles during imitation strengthened sympathetic activation to negative emotional cues. These findings suggest that manipulations of muscular feedback could modulate the bodily expression of emotion and perhaps also the emotional response itself.

Exacerbation of Facial Motoneuron Loss after Facial Nerve Axotomy in CCR3-Deficient Mice

Directory of Open Access Journals (Sweden)

Derek A Wainwright

2009-11-01

Full Text Available We have previously demonstrated a neuroprotective mechanism of FMN (facial motoneuron survival after facial nerve axotomy that is dependent on CD4+ Th2 cell interaction with peripheral antigen-presenting cells, as well as CNS (central nervous system-resident microglia. PACAP (pituitary adenylate cyclase-activating polypeptide is expressed by injured FMN and increases Th2-associated chemokine expression in cultured murine microglia. Collectively, these results suggest a model involving CD4+ Th2 cell migration to the facial motor nucleus after injury via microglial expression of Th2-associated chemokines. However, to respond to Th2-associated chemokines, Th2 cells must express the appropriate Th2-associated chemokine receptors. In the present study, we tested the hypothesis that Th2-associated chemokine receptors increase in the facial motor nucleus after facial nerve axotomy at timepoints consistent with significant T-cell infiltration. Microarray analysis of Th2-associated chemokine receptors was followed up with real-time PCR for CCR3, which indicated that facial nerve injury increases CCR3 mRNA levels in mouse facial motor nucleus. Unexpectedly, quantitative- and co-immunofluorescence revealed increased CCR3 expression localizing to FMN in the facial motor nucleus after facial nerve axotomy. Compared with WT (wild-type, a significant decrease in FMN survival 4 weeks after axotomy was observed in CCR3–/– mice. Additionally, compared with WT, a significant decrease in FMN survival 4 weeks after axotomy was observed in Rag2 –/– (recombination activating gene-2-deficient mice adoptively transferred CD4+ T-cells isolated from CCR3–/– mice, but not in CCR3–/– mice adoptively transferred CD4+ T-cells derived from WT mice. These results provide a basis for further investigation into the co-operation between CD4+ T-cell- and CCR3-mediated neuroprotection after FMN injury.

The MPI Facial Expression Database — A Validated Database of Emotional and Conversational Facial Expressions

Science.gov (United States)

Kaulard, Kathrin; Cunningham, Douglas W.; Bülthoff, Heinrich H.; Wallraven, Christian

2012-01-01

The ability to communicate is one of the core aspects of human life. For this, we use not only verbal but also nonverbal signals of remarkable complexity. Among the latter, facial expressions belong to the most important information channels. Despite the large variety of facial expressions we use in daily life, research on facial expressions has so far mostly focused on the emotional aspect. Consequently, most databases of facial expressions available to the research community also include only emotional expressions, neglecting the largely unexplored aspect of conversational expressions. To fill this gap, we present the MPI facial expression database, which contains a large variety of natural emotional and conversational expressions. The database contains 55 different facial expressions performed by 19 German participants. Expressions were elicited with the help of a method-acting protocol, which guarantees both well-defined and natural facial expressions. The method-acting protocol was based on every-day scenarios, which are used to define the necessary context information for each expression. All facial expressions are available in three repetitions, in two intensities, as well as from three different camera angles. A detailed frame annotation is provided, from which a dynamic and a static version of the database have been created. In addition to describing the database in detail, we also present the results of an experiment with two conditions that serve to validate the context scenarios as well as the naturalness and recognizability of the video sequences. Our results provide clear evidence that conversational expressions can be recognized surprisingly well from visual information alone. The MPI facial expression database will enable researchers from different research fields (including the perceptual and cognitive sciences, but also affective computing, as well as computer vision) to investigate the processing of a wider range of natural facial expressions

The fate of facial asymmetry after surgery for "muscular torticollis" in early childhood

Directory of Open Access Journals (Sweden)

Dinesh Kittur

2016-01-01

Full Text Available Aims and Objectives: To study wheather the facial features return to normal after surgery for muscular torticollis done in early childhood. Materials and Methods: This is a long-term study of the fate of facial asymmetry in four children who have undergone operation for muscular torticollis in early childhood. All the patients presented late, i.e., after the age of 4 years with a scarred sternomastoid and plagiocephaly, so conservative management with physiotherapy was not considered. All the patients had an x-ray of cervical spine and eye and dental checkup before making a diagnosis of muscular torticollis. Preoperative photograph of the patient′s face was taken to counsel the parents about the secondary effect of short sternomastoid on facial features and the need for surgery. After division of sternomastoid muscle and release of cervical fascia when indicated, the head was maintained in a hyperextended position supported by sand bags for three days. Gradual physiotherapy was then started followed by wearing of a Minerva collar that the child wore for a maximum period of time in 24 h. Physiotherapy was continued three times a day till the range of movements of the head returned to normal. During the follow-up, serial photographs were taken to note the changes in the facial features. Results: In all four patients, the asymmetry of the face got corrected and the facial features returned to normal. Conclusion: Most of the deformity of facial asymmetry gets corrected in the first two years after surgery. By adolescence, the face returns to normal.

The enlargement of geniculate fossa of facial nerve canal: a new CT finding of facial nerve canal fracture

International Nuclear Information System (INIS)

Gong Ruozhen; Li Yuhua; Gong Wuxian; Wu Lebin

2006-01-01

Objective: To discuss the value of enlargement of geniculate fossa of facial nerve canal in the diagnosis of facial nerve canal fracture. Methods: Thirty patients with facial nerve canal fracture underwent axial and coronal CT scan. The correlation between the fracture and the enlargement of geniculate fossa of facial nerve canal was analyzed. The ability of showing the fracture and enlargement of geniculate fossa of facial nerve canal in axial and coronal imaging were compared. Results: Fracture of geniculate fossa of facial nerve canal was found in the operation in 30 patients, while the fracture was detected in CT in 18 patients. Enlargement of geniculate ganglion of facial nerve was detected in 30 patients in the operation, while the enlargement of fossa was found in CT in 28 cases. Enlargement and fracture of geniculate fossa of facial nerve canal were both detected in CT images in 18 patients. Only the enlargement of geniculate fossa of facial nerve canal was shown in 12 patients in CT. Conclusion: Enlargement of geniculate fossa of facial nerve canal was a useful finding in the diagnosis of fracture of geniculate fossa in patients with facial paralysis, even no fracture line was shown on CT images. (authors)

Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma

OpenAIRE

Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M.; Ginsberg, Lawrence E.; Gidley, Paul W.

2014-01-01

Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomograph...

Quantitative Magnetic Resonance Imaging Volumetry of Facial Muscles in Healthy Patients with Facial Palsy

Science.gov (United States)

Volk, Gerd F.; Karamyan, Inna; Klingner, Carsten M.; Reichenbach, Jürgen R.

2014-01-01

Background: Magnetic resonance imaging (MRI) has not yet been established systematically to detect structural muscular changes after facial nerve lesion. The purpose of this pilot study was to investigate quantitative assessment of MRI muscle volume data for facial muscles. Methods: Ten healthy subjects and 5 patients with facial palsy were recruited. Using manual or semiautomatic segmentation of 3T MRI, volume measurements were performed for the frontal, procerus, risorius, corrugator supercilii, orbicularis oculi, nasalis, zygomaticus major, zygomaticus minor, levator labii superioris, orbicularis oris, depressor anguli oris, depressor labii inferioris, and mentalis, as well as for the masseter and temporalis as masticatory muscles for control. Results: All muscles except the frontal (identification in 4/10 volunteers), procerus (4/10), risorius (6/10), and zygomaticus minor (8/10) were identified in all volunteers. Sex or age effects were not seen (all P > 0.05). There was no facial asymmetry with exception of the zygomaticus major (larger on the left side; P = 0.012). The exploratory examination of 5 patients revealed considerably smaller muscle volumes on the palsy side 2 months after facial injury. One patient with chronic palsy showed substantial muscle volume decrease, which also occurred in another patient with incomplete chronic palsy restricted to the involved facial area. Facial nerve reconstruction led to mixed results of decreased but also increased muscle volumes on the palsy side compared with the healthy side. Conclusions: First systematic quantitative MRI volume measures of 5 different clinical presentations of facial paralysis are provided. PMID:25289366

[Prosopagnosia and facial expression recognition].

Science.gov (United States)

Koyama, Shinichi

2014-04-01

This paper reviews clinical neuropsychological studies that have indicated that the recognition of a person's identity and the recognition of facial expressions are processed by different cortical and subcortical areas of the brain. The fusiform gyrus, especially the right fusiform gyrus, plays an important role in the recognition of identity. The superior temporal sulcus, amygdala, and medial frontal cortex play important roles in facial-expression recognition. Both facial recognition and facial-expression recognition are highly intellectual processes that involve several regions of the brain.

MR findings of facial nerve on oblique sagittal MRI using TMJ surface coil: normal vs peripheral facial nerve palsy

International Nuclear Information System (INIS)

Park, Yong Ok; Lee, Myeong Jun; Lee, Chang Joon; Yoo, Jeong Hyun

2000-01-01

To evaluate the findings of normal facial nerve, as seen on oblique sagittal MRI using a TMJ (temporomandibular joint) surface coil, and then to evaluate abnormal findings of peripheral facial nerve palsy. We retrospectively reviewed the MR findings of 20 patients with peripheral facial palsy and 50 normal facial nerves of 36 patients without facial palsy. All underwent oblique sagittal MRI using a T MJ surface coil. We analyzed the course, signal intensity, thickness, location, and degree of enhancement of the facial nerve. According to the angle made by the proximal parotid segment on the axis of the mastoid segment, course was classified as anterior angulation (obtuse and acute, or buckling), straight and posterior angulation. Among 50 normal facial nerves, 24 (48%) were straight, and 23 (46%) demonstrated anterior angulation; 34 (68%) showed iso signal intensity on T1W1. In the group of patients, course on the affected side was either straight (40%) or showed anterior angulation (55%), and signal intensity in 80% of cases was isointense. These findings were similar to those in the normal group, but in patients with post-traumatic or post-operative facial palsy, buckling, of course, appeared. In 12 of 18 facial palsy cases (66.6%) in which contrast materials were administered, a normal facial nerve of the opposite facial canal showed mild enhancement on more than one segment, but on the affected side the facial nerve showed diffuse enhancement in all 14 patients with acute facial palsy. Eleven of these (79%) showed fair or marked enhancement on more than one segment, and in 12 (86%), mild enhancement of the proximal parotid segment was noted. Four of six chronic facial palsy cases (66.6%) showed atrophy of the facial nerve. When oblique sagittal MR images are obtained using a TMJ surface coil, enhancement of the proximal parotid segment of the facial nerve and fair or marked enhancement of at least one segment within the facial canal always suggests pathology of

Facial neuroma masquerading as acoustic neuroma.

Science.gov (United States)

Sayegh, Eli T; Kaur, Gurvinder; Ivan, Michael E; Bloch, Orin; Cheung, Steven W; Parsa, Andrew T

2014-10-01

Facial nerve neuromas are rare benign tumors that may be initially misdiagnosed as acoustic neuromas when situated near the auditory apparatus. We describe a patient with a large cystic tumor with associated trigeminal, facial, audiovestibular, and brainstem dysfunction, which was suspicious for acoustic neuroma on preoperative neuroimaging. Intraoperative investigation revealed a facial nerve neuroma located in the cerebellopontine angle and internal acoustic canal. Gross total resection of the tumor via retrosigmoid craniotomy was curative. Transection of the facial nerve necessitated facial reanimation 4 months later via hypoglossal-facial cross-anastomosis. Clinicians should recognize the natural history, diagnostic approach, and management of this unusual and mimetic lesion. Copyright © 2014 Elsevier Ltd. All rights reserved.

Persistent facial pain conditions

DEFF Research Database (Denmark)

Forssell, Heli; Alstergren, Per; Bakke, Merete

2016-01-01

Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers...... TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence......, clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

Computed tomography in facial trauma

International Nuclear Information System (INIS)

Zilkha, A.

1982-01-01

Computed tomography (CT), plain radiography, and conventional tomography were performed on 30 patients with facial trauma. CT demonstrated bone and soft-tissue involvement. In all cases, CT was superior to tomography in the assessment of facial injury. It is suggested that CT follow plain radiography in the evaluation of facial trauma

Changes in muscle activity and stature recovery after active rehabilitation for chronic low back pain.

Science.gov (United States)

Lewis, Sandra; Holmes, Paul; Woby, Steve; Hindle, Jackie; Fowler, Neil

2014-06-01

Patients with low back pain often demonstrate elevated paraspinal muscle activity compared to asymptomatic controls. This hyperactivity has been associated with a delayed rate of stature recovery following spinal loading tasks. The aim of this study was to investigate the changes in muscle activity and stature recovery in patients with chronic low back pain following an active rehabilitation programme. The body height recovery over a 40-min unloading period was assessed via stadiometry and surface electromyograms were recorded from the paraspinal muscles during standing. The measurements were repeated after patients had attended the rehabilitation programme and again at a six-month follow-up. Analysis was based on 17 patients who completed the post-treatment analysis and 12 of these who also participated in the follow-up. By the end of the six months, patients recovered significantly more height during the unloading session than at their initial visit (ES = 1.18; P < 0.01). Greater stature recovery immediately following the programme was associated with decreased pain (r = -0.55; P = 0.01). The increased height gain after six months suggests that delayed rates of recovery are not primarily caused by disc degeneration. Muscle activity did not decrease after treatment, perhaps reflecting a period of adaptation or altered patterns of motor control. Copyright © 2014 Elsevier Ltd. All rights reserved.

Facial transplantation surgery introduction.

Science.gov (United States)

Eun, Seok-Chan

2015-06-01

Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea.

Facial reanimation with gracilis muscle transfer neurotized to cross-facial nerve graft versus masseteric nerve: a comparative study using the FACIAL CLIMA evaluating system.

Science.gov (United States)

Hontanilla, Bernardo; Marre, Diego; Cabello, Alvaro

2013-06-01

Longstanding unilateral facial paralysis is best addressed with microneurovascular muscle transplantation. Neurotization can be obtained from the cross-facial or the masseter nerve. The authors present a quantitative comparison of both procedures using the FACIAL CLIMA system. Forty-seven patients with complete unilateral facial paralysis underwent reanimation with a free gracilis transplant neurotized to either a cross-facial nerve graft (group I, n=20) or to the ipsilateral masseteric nerve (group II, n=27). Commissural displacement and commissural contraction velocity were measured using the FACIAL CLIMA system. Postoperative intragroup commissural displacement and commissural contraction velocity means of the reanimated versus the normal side were first compared using the independent samples t test. Mean percentage of recovery of both parameters were compared between the groups using the independent samples t test. Significant differences of mean commissural displacement and commissural contraction velocity between the reanimated side and the normal side were observed in group I (p=0.001 and p=0.014, respectively) but not in group II. Intergroup comparisons showed that both commissural displacement and commissural contraction velocity were higher in group II, with significant differences for commissural displacement (p=0.048). Mean percentage of recovery of both parameters was higher in group II, with significant differences for commissural displacement (p=0.042). Free gracilis muscle transfer neurotized by the masseteric nerve is a reliable technique for reanimation of longstanding facial paralysis. Compared with cross-facial nerve graft neurotization, this technique provides better symmetry and a higher degree of recovery. Therapeutic, III.

Hadju-cheney syndrome

International Nuclear Information System (INIS)

Kawamura, J.; Matsubayashi, K.; Ogawa, M.

1981-01-01

The case of a 24-year-old man with Hadju-Cheney syndrome is reported. No similar disease occured in his family. Inverted and bulbous tips of fingers were noted at age 9 and protruded occipital bone at age 10. He complained of left facial spasm and facial tics for 1 year. Examination revealed a man of short stature, with a brachycephalic skull and hypertelorism. Radiologically there was an extreme degree of basilar impression with the basal angle of 180 degrees, demineralized spinal vertebrae, and acro-osteolysis. Both bone and CT scans demonstrated the abnormalities of the skull clearly. The basilar artery ran almost horizontally on angiography. He gradually deteriorated neurologically with bulbar, pyramidal and cerebellar signs and symptoms. Review of the literature revealed at least then non-familial and nine familial cases of this disorder. It is considered that this syndrome is a genetically determined generalized dysplastic bone disorder. (orig.)

Are facial injuries really different? An observational cohort study comparing appearance concern and psychological distress in facial trauma and non-facial trauma patients.

Science.gov (United States)

Rahtz, Emmylou; Bhui, Kamaldeep; Hutchison, Iain; Korszun, Ania

2018-01-01

Facial injuries are widely assumed to lead to stigma and significant psychosocial burden. Experimental studies of face perception support this idea, but there is very little empirical evidence to guide treatment. This study sought to address the gap. Data were collected from 193 patients admitted to hospital following facial or other trauma. Ninety (90) participants were successfully followed up 8 months later. Participants completed measures of appearance concern and psychological distress (post-traumatic stress symptoms (PTSS), depressive symptoms, anxiety symptoms). Participants were classified by site of injury (facial or non-facial injury). The overall levels of appearance concern were comparable to those of the general population, and there was no evidence of more appearance concern among people with facial injuries. Women and younger people were significantly more likely to experience appearance concern at baseline. Baseline and 8-month psychological distress, although common in the sample, did not differ according to the site of injury. Changes in appearance concern were, however, strongly associated with psychological distress at follow-up. We conclude that although appearance concern is severe among some people with facial injury, it is not especially different to those with non-facial injuries or the general public; changes in appearance concern, however, appear to correlate with psychological distress. We therefore suggest that interventions might focus on those with heightened appearance concern and should target cognitive bias and psychological distress. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Concertina effect and facial aging: nonlinear aspects of youthfulness and skeletal remodeling, and why, perhaps, infants have jowls.

Science.gov (United States)

Pessa, J E; Zadoo, V P; Yuan, C; Ayedelotte, J D; Cuellar, F J; Cochran, C S; Mutimer, K L; Garza, J R

1999-02-01

The effect of aging on the orbitomaxillary region is evaluated in the present study. The observation was made that infants look like aged individuals in terms of the midface soft-tissue contours of the midface. Because preliminary work has shown that the facial skeleton remodels throughout life, this observation led to the hypothesis that infants and older individuals appear similar because they have comparable skeletal dimensions, specifically in the orbitomaxillary region. The design is a retrospective analysis of three-dimensional computed tomographic scan data. Three groups of male subjects were studied: infant, ages 1 to 12 months (n = 5); youthful, ages 15 to 24 years (n = 13); and old, ages 53 to 76 years (n = 12). Orbital and zygomaticomaxillary vertical dimensions were measured in both medial and lateral planes between fixed anatomical landmarks. Results were compared by using analysis of variance, Student-Newman-Keuls, and Student's t tests. The findings show that skeletal remodeling is such that the ratio of the maxillary height to orbital height is greatest during youth; during infancy and old age, there is a short maxilla relative to a larger orbit. This finding is significant in the medial plane from orbital rim to pyriform aperture (p definition of facial youthfulness. Infants are born with a short maxilla relative to a large orbit, and the maxillary wall is angled posteriorly. This ratio and angle change from infancy until youth, when there is a balance between the bony skeletal support and the overlying soft-tissue envelope, i.e., the skin, facial muscles, and adipose tissue. It is when skeletal remodeling continues past this point that a disharmony occurs. Because the ratio of maxilla/orbit, and the angle of the maxillary wall, in the older person reverts toward that of an infant, the attainment of youth occurs partly in a nonlinear or multimodal manner. This work is part of an emerging concept of facial aging, which we would term an integrated

Misrecognition of facial expressions in delinquents

Directory of Open Access Journals (Sweden)

Matsuura Naomi

2009-09-01

Full Text Available Abstract Background Previous reports have suggested impairment in facial expression recognition in delinquents, but controversy remains with respect to how such recognition is impaired. To address this issue, we investigated facial expression recognition in delinquents in detail. Methods We tested 24 male adolescent/young adult delinquents incarcerated in correctional facilities. We compared their performances with those of 24 age- and gender-matched control participants. Using standard photographs of facial expressions illustrating six basic emotions, participants matched each emotional facial expression with an appropriate verbal label. Results Delinquents were less accurate in the recognition of facial expressions that conveyed disgust than were control participants. The delinquents misrecognized the facial expressions of disgust as anger more frequently than did controls. Conclusion These results suggest that one of the underpinnings of delinquency might be impaired recognition of emotional facial expressions, with a specific bias toward interpreting disgusted expressions as hostile angry expressions.

Peripheral facial palsy in children.

Science.gov (United States)

Yılmaz, Unsal; Cubukçu, Duygu; Yılmaz, Tuba Sevim; Akıncı, Gülçin; Ozcan, Muazzez; Güzel, Orkide

2014-11-01

The aim of this study is to evaluate the types and clinical characteristics of peripheral facial palsy in children. The hospital charts of children diagnosed with peripheral facial palsy were reviewed retrospectively. A total of 81 children (42 female and 39 male) with a mean age of 9.2 ± 4.3 years were included in the study. Causes of facial palsy were 65 (80.2%) idiopathic (Bell palsy) facial palsy, 9 (11.1%) otitis media/mastoiditis, and tumor, trauma, congenital facial palsy, chickenpox, Melkersson-Rosenthal syndrome, enlarged lymph nodes, and familial Mediterranean fever (each 1; 1.2%). Five (6.1%) patients had recurrent attacks. In patients with Bell palsy, female/male and right/left ratios were 36/29 and 35/30, respectively. Of them, 31 (47.7%) had a history of preceding infection. The overall rate of complete recovery was 98.4%. A wide variety of disorders can present with peripheral facial palsy in children. Therefore, careful investigation and differential diagnosis is essential. © The Author(s) 2013.

Short-term Assessment of HSCT Effects on the Hypothalamus-Pituitary Axis in Pediatric Thalassemic Patients.

Science.gov (United States)

Hamidieh, Amir Ali; Mohseni, Fariba; Behfar, Maryam; Hamidi, Zohreh; Alimoghaddam, Kamran; Pajouhi, Mohamad; Larijani, Bagher; Mohajeri-Tehrani, Mohammad-Reza; Ghavamzadeh, Ardeshir

2018-02-01

Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards. The cosyntropin test for all and the clonidine test for short stature patients was conducted before HSCT. Before HSCT, delayed puberty and hypogonadotropic hypogonadism was found in 10% and 20% of patients, respectively. GH deficiency, low IGF1 and short stature was found in 25%, 55% and 40% of patients, respectively. Hypocortisolism, hypothyroidism and panhypopituitarism was found in 15%, 10% and 15% of patients, respectively. Prevalence of hypogonadotropic hypogonadism, low IGF1, hypothyroidism and panhypopituitarism was found in 20%, 40%, 10% and 10% of patients after 3 months, respectively (delayed puberty and short stature prevalence do not change after 3 months). HSCT caused lower T3 and estradiol and higher TSH. Corticosteroid users (15) had higher GH and lower T3 and testosterone or estradiol. Ferritin had a significant (negative) correlation with (before) prolactin and a significant correlation with T3 and T4 after HSCT. Age and acute graft-versus-host disease (GVHD) had no significant effect. Considering the small sample size and short duration of the study, it is difficult to reach any conclusion however it seems HSCT does not appear to have an overall positive or negative effect on prevalence of pituitary- hypothalamus axis disorders in pediatric thalassemic patients in 3 months. �

Facial expressions and pair bonds in hylobatids.

Science.gov (United States)

Florkiewicz, Brittany; Skollar, Gabriella; Reichard, Ulrich H

2018-06-06

Facial expressions are an important component of primate communication that functions to transmit social information and modulate intentions and motivations. Chimpanzees and macaques, for example, produce a variety of facial expressions when communicating with conspecifics. Hylobatids also produce various facial expressions; however, the origin and function of these facial expressions are still largely unclear. It has been suggested that larger facial expression repertoires may have evolved in the context of social complexity, but this link has yet to be tested at a broader empirical basis. The social complexity hypothesis offers a possible explanation for the evolution of complex communicative signals such as facial expressions, because as the complexity of an individual's social environment increases so does the need for communicative signals. We used an intraspecies, pair-focused study design to test the link between facial expressions and sociality within hylobatids, specifically the strength of pair-bonds. The current study compared 206 hr of video and 103 hr of focal animal data for ten hylobatid pairs from three genera (Nomascus, Hoolock, and Hylobates) living at the Gibbon Conservation Center. Using video footage, we explored 5,969 facial expressions along three dimensions: repertoire use, repertoire breadth, and facial expression synchrony [FES]. We then used focal animal data to compare dimensions of facial expressiveness to pair bond strength and behavioral synchrony. Hylobatids in our study overlapped in only half of their facial expressions (50%) with the only other detailed, quantitative study of hylobatid facial expressions, while 27 facial expressions were uniquely observed in our study animals. Taken together, hylobatids have a large facial expression repertoire of at least 80 unique facial expressions. Contrary to our prediction, facial repertoire composition was not significantly correlated with pair bond strength, rates of territorial synchrony

Facial talon cusps.

LENUS (Irish Health Repository)

McNamara, T

1997-12-01

This is a report of two patients with isolated facial talon cusps. One occurred on a permanent mandibular central incisor; the other on a permanent maxillary canine. The locations of these talon cusps suggests that the definition of a talon cusp include teeth in addition to the incisor group and be extended to include the facial aspect of teeth.

Architecture of 53 rain forest tree species differing in adult stature and shade tolerance

NARCIS (Netherlands)

Poorter, L.; Bongers, F.J.J.M.; Sterck, F.J.; Wöll, H.

2003-01-01

Tree architecture determines a tree's light capture, stability, and efficiency of crown growth. The hypothesis that light demand and adult stature of tree species within a community, independently of each other, determine species' architectural traits was tested by comparing 53 Liberian rain forest

Imaging the Facial Nerve: A Contemporary Review

International Nuclear Information System (INIS)

Gupta, S.; Roehm, P.C.; Mends, F.; Hagiwara, M.; Fatterpekar, G.

2013-01-01

Imaging plays a critical role in the evaluation of a number of facial nerve disorders. The facial nerve has a complex anatomical course; thus, a thorough understanding of the course of the facial nerve is essential to localize the sites of pathology. Facial nerve dysfunction can occur from a variety of causes, which can often be identified on imaging. Computed tomography and magnetic resonance imaging are helpful for identifying bony facial canal and soft tissue abnormalities, respectively. Ultrasound of the facial nerve has been used to predict functional outcomes in patients with Bell’s palsy. More recently, diffusion tensor tractography has appeared as a new modality which allows three-dimensional display of facial nerve fibers

Facial nerve palsy due to birth trauma