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Sample records for short stature hypotonia

  1. Short stature

    MedlinePlus

    Idiopathic short stature; Non-growth hormone deficient short stature ... Turner syndrome Williams syndrome Other reasons include: Growth hormone deficiency Infections of the developing baby before birth ...

  2. Imaging in short stature

    PubMed Central

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

    Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions associated with growth abnormality. In this review, we have discussed the role of imaging in diagnosing and characterizing various pathological conditions associated with short stature. PMID:23087851

  3. Short Stature in Childhood and Adolescence

    PubMed Central

    Bannard, James R.; Schnell, Frank N.

    1991-01-01

    The literature on the psychosocial impact of short stature in childhood and adolescence is reviewed, with particular reference to IQ and educational attainment, personality and psychopathology, and the concept of infantilization. Adult outcome studies are also reviewed with comments on inherent methodological problems. Suggestions are offered for the psychosocial management of short stature. PMID:21229094

  4. Whole exome sequencing to identify genetic causes of short stature

    PubMed Central

    Guo, Michael H.; Shen, Yiping; Walvoord, Emily C.; Miller, Timothy C.; Moon, Jennifer E.; Hirschhorn, Joel N; Dauber, Andrew

    2014-01-01

    Background/Aims Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. Methods We recruited 14 children with severe short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that cause the short stature. Results We identified a genetic cause of short stature in 5 of the 14 patients. This included cases of Floating Harbor syndrome, Kenny-Caffey syndrome, the progeroid form of Ehlers-Danlos syndrome, as well as two cases of the 3-M syndrome. For remaining patients, we have generated lists of candidate variants. Conclusions Whole exome sequencing can help identify genetic causes of short stature in the context of defined genetic syndromes, but may be less effective in identifying novel genetic causes of short stature in individual families. Utilized in the clinic, whole exome sequencing can provide clinically relevant diagnoses for these patients. Rare syndromic causes of short stature may be under-recognized and under-diagnosed in pediatric endocrinology clinics. PMID:24970356

  5. ASSOCIATION BETWEEN SHORT STATURE AND HAIR ELEMENTS.

    PubMed

    Tabatadze, T; Zhorzholiani, L; Kherkheulidze, M; Karseladze, R; Ivanashvili, T

    2015-10-01

    Aim - assessment of hair elemental status, determination of elemental imbalances and heavy metal concentration and evaluation its impact on child liner growth. Case-control study involves 112 children less than 5 years old (target group - 54 children with short stature, control - 58 children with normal physical development). Medical history, nutritional status, anthropological parameters were assessed. Patients with genetic and endocrine disorders, family short stature were excluded from the study. Child elemental status was detected in the hair, with roentgen-fluorescence spectrometer method. Statistical analysis was conduced using SPPS19. Assessment of the dietary history does not reveal any significant differences between the groups, the only exception was consumption of fish, that was statistically significantly lower than in control (p<0,05). The study revealed deficiency of some elements in both (study and control) groups, but there were significant difference between the groups: Zn deficiency 90% versus 40% (p<0,05), Ca deficiency 62 and 36 (p<0,05), Cu deficiency 50 and 16 (p<0,05) and Mn deficiency 30 and 6 (p<0,05) accordingly. Level of some elements (K, S, Br, Cl, Co, Ag, V, Ni, Rb, Sr, Ti, Ba, As, Cd, Zr, Sb) have normal values. Some element deficiency (Fe, Mo, Se) was higher in study group but the difference was not significant. The study revealed high level of hair lead in both groups: all patients (100%) of target group have elevated level of hair lead, among them in 35,8% the content of lead was above so-called minimal allowed level (p<5,0 ppm) and in 64,5% the content of lead in the hair was above so-called maximal allowed level (p≥5,0 ppm). In the control group, lead in the hair was detected in 78% of cases, though the concentration was only in 2% of cases higher than so called maximum allowed. Our study clearly indicated deficiency of trace elements, particularly essential ones and high lead contamination in children with short stature. Our

  6. Psychological functioning in idiopathic short stature.

    PubMed

    Noeker, Meinolf

    2011-01-01

    Living with idiopathic short stature (ISS) may entail significant risks to psychological functioning and quality of life. Apparent inconsistency among study findings can be resolved if methodological differences among study designs are taken into account (i.e., definition of particular endpoints, sample selection from clinic or population, source of report, specific or generic assessment instruments, statistical control of confounders). Some individuals fail and others succeed in mastering the challenges of ISS. The principles of multifinality and equifinality may explain the emergence of a broad variation of individuals with ISS as a result of an interaction of the individual medical and auxological features on the one side, and psychosocial risk and protective factors on the other. As a result, patients may show heterogeneous developmental outcomes ranging from clinical psychopathology to development of resilience. A taxonomy of four distinct pathways of adaptation to ISS is delineated as a basis for case formulation and treatment planning. Psychological intervention in ISS includes counseling, cognitive-behavioral therapy and assertiveness training to improve psychological functioning via enhancement of target coping behaviors for critical situations. PMID:21912169

  7. Challenges in the Management of Short Stature.

    PubMed

    Argente, Jesús

    2016-01-01

    Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or postnatal onset, or an unknown diagnosis, i.e. idiopathic SS. The incidence/prevalence of SS is difficult to establish. The measurement of choice in children aged <2 years is length, while in those >2 years of age it is height. A number of monogenic diseases that lead to proportionate SS due to either isolated growth hormone deficiency, multiple pituitary hormone deficiency, growth hormone insensitivity, primary acid-labile subunit deficiency, primary IGF-1 deficiency, IGF-1 resistance, primary IGF-2 deficiency or primary protease deficiency have been discovered in the last 30 years. In addition, the Nosology and Classification of Genetic Skeletal Disorders revised in 2015 includes 436 conditions, with a number of genes of 364. A practical algorithm for the evaluation of SS as well as therapeutic options are discussed.

  8. Challenges in the Management of Short Stature.

    PubMed

    Argente, Jesús

    2016-01-01

    Human growth, from fetal life to adolescence, is dynamic and a good marker of health. Growth is a complex process influenced by genetic, hormonal, nutritional and environmental factors, both pre- and postnatally. To date, no international agreement regarding normal height has been established. Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or postnatal onset, or an unknown diagnosis, i.e. idiopathic SS. The incidence/prevalence of SS is difficult to establish. The measurement of choice in children aged <2 years is length, while in those >2 years of age it is height. A number of monogenic diseases that lead to proportionate SS due to either isolated growth hormone deficiency, multiple pituitary hormone deficiency, growth hormone insensitivity, primary acid-labile subunit deficiency, primary IGF-1 deficiency, IGF-1 resistance, primary IGF-2 deficiency or primary protease deficiency have been discovered in the last 30 years. In addition, the Nosology and Classification of Genetic Skeletal Disorders revised in 2015 includes 436 conditions, with a number of genes of 364. A practical algorithm for the evaluation of SS as well as therapeutic options are discussed. PMID:26649429

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

    PubMed Central

    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. Images PMID:2246773

  10. Idiopathic Short Stature: Conundrums of Definition and Treatment

    PubMed Central

    Rosenbloom, Arlan L.

    2009-01-01

    Children with idiopathic short stature (ISS) are statistically defined by height SDS < −2 for their bone age and should be distinguished from children with familial short stature for whom height SDS corresponds to mean parental SDS and from the most common explanation for short stature referred to pediatric endocrinologists, constitutional delay in growth and maturation (CDGM), in which there is normal height for bone age and predicted normal adult stature. Low IGF-I levels reported in ISS may be the result of subtle undernutrition or reference to standards appropriate for chronologic age but not osseous maturation in CDGM inappropriately labeled as ISS. While growth hormone (GH) treatment of ISS may add 4-5 cm to adult height, meta-analysis indicates that there is no documented evidence that such treatment improves health related quality of life or psychological adaptation. Thus, the estimated cost of US$52 000/inch gained is difficult to justify. Absence of data regarding efficacy of the use of IGF-I for treatment of ISS has been noted in a recent consensus statement from the North American and European pediatric endocrinology societies. This report further emphasizes the importance of discouraging the expectation that taller stature from GH treatment will improve quality of life. PMID:19956707

  11. Short and tall stature: a new paradigm emerges

    PubMed Central

    Baron, Jeffrey; Sävendahl, Lars; De Luca, Francesco; Dauber, Andrew; Phillip, Moshe; Wit, Jan M.; Nilsson, Ola

    2016-01-01

    In the past, the growth hormone (GH) – insulin-like growth factor-I (IGF-I) axis was thought to be the central system regulating childhood growth and therefore responsible for short stature and tall stature. However, recent findings have revealed that the GH-IGF-I axis is just one of many regulatory systems that control chondrogenesis in the growth plate, the biological process that drives height gain. Consequently, normal growth in children depends not only on GH and IGF-I but on multiple hormones, paracrine factors, extracellular matrix molecules, and intracellular proteins that regulate growth plate chondrocytes. Mutations in genes encoding many of these local proteins cause short stature or tall stature. Similarly genome-wide association studies have revealed that the normal variation in height appears to be due largely to genes outside the GH-IGF-I axis that affect growth at the growth plate through a wide variety of mechanisms. These findings point to a new conceptual framework for understanding short and tall stature, which is centered not on two particular hormones but rather on the growth plate, the structure responsible for height gain. PMID:26437621

  12. Psychosocial assessment of children with short stature: a preliminary report.

    PubMed

    Skuse, D; Gilmour, J; Tian, C S; Hindmarsh, P

    1994-12-01

    Previous studies that have examined the psychosocial adjustment of children with short stature have often been flawed, for two main reasons: first, a lack of sample homogeneity and, secondly, the measures of adjustment used have been limited in terms of their sensitivity. This paper examines psychological functioning in the following four broad areas: cognition, social behaviour, emotional adjustment and self-concept. A sample of children referred to growth clinics (mean height below -2 SDS) and a comparison group, recruited from the referred childrens' classes at school, were assessed. Children were prepubertal (age range, 6-11 years) and had no organic cause for their short stature. Parent, teacher and peer reports were used in the assessment, which included sociometric measures in the classroom. The children with short stature described themselves as equally well supported as the comparison children in terms of social support by parents, teachers, peers and friends. Peers reported the short children to be well accepted within their class. Compared with control children, there was a trend for short children to be described by their peers as socially better adjusted than average. Teacher and parental accounts revealed significant group differences in terms of reported behaviour, with poorer attention and more thought problems among the children with short stature. Further analysis suggested, however, that their slightly lower IQ than children of normal height (95.8 +/- 18.7 (mean +/- SD) compared with 105 +/- 15.4) accounted for a greater proportion of the variance in these findings than short stature per se. There is little evidence to indicate that short prepubertal children are psychosocially maladjusted.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7734805

  13. Genetics Home Reference: short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething ...

    MedlinePlus

    ... Conditions SHORT syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay Enable Javascript to ... Close All Description Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay , commonly known by ...

  14. Different chromosome Y abnormalities in a case with short stature

    PubMed Central

    Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M. Nuri; Alp, M. Nail; Budak, Turgay

    2012-01-01

    We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.

  15. Different chromosome Y abnormalities in a case with short stature.

    PubMed

    Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M Nuri; Alp, M Nail; Budak, Turgay

    2012-12-01

    We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes. PMID:27625830

  16. A Noonan-like short stature syndrome with sparse hair.

    PubMed Central

    Baraitser, M; Patton, M A

    1986-01-01

    Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies. Images PMID:3712393

  17. Aromatase Inhibitors in the Treatment of Short Stature.

    PubMed

    Hero, Matti

    2016-01-01

    Reports published in the 1990s of men with estrogen deficiency caused by defective aromatase or estrogen resistance due to a defective estrogen receptor α confirmed the crucial role of estrogen in bone maturation, closure of the epiphyses and cessation of statural growth. Based on these findings, it became reasonable to postulate that selective inhibition of estrogen synthesis with aromatase inhibitors could increase adult height by delaying bone maturation and prolonging the period of growth in males. To date, aromatase inhibitors have been employed in rare pediatric conditions associated with sex steroid excess, and in randomized controlled trials involving boys with short stature and/or constitutional delay of puberty. Findings from these randomized trials suggest that potent aromatase inhibitors increase predicted height, but final adult height data are scarce. Moreover, several safety issues remain inadequately studied. In this paper, published findings on the use of aromatase inhibitors in growth indications are reviewed with emphasis on treatment efficacy and safety.

  18. Short stature Revealing a Pycnodysostosis: A Case Report

    PubMed Central

    Aynaou, Hayat; Skiker, Imane; Latrech, Hanane

    2016-01-01

    Introduction: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported. Case Presentation: A 12-year-female was admitted in our institute for short stature with a dysmorphic facies for evaluation. The patient reported a history of multiple fractures of the long bones after a trivial fall. On physical examination, she had the following features: short stature, limited mouth opening, short hands and feet with dysplastic nails; frontal and occipital bossing; and hypoplasia of the maxilla and mandible. Examination of the mouth: grooved palate, caries of the teeth, impacted and malposed teeth, persistent deciduous teeth and missing teeth. Laboratory investigations were normal. The radiographic examination showed a generalized increase in the bone density, slight condensation of the skull base and a very open mandibular angle. X-rays showed tapered phalanges with acro-osteolysis of the distal phalanges. A symptomatic treatment was proposed based on fracture prevention, oral hygiene, frequent dental visits and psychiatric support. Conclusion: The clinical and radiological features are the bases for the diagnosis of this disease. It is important to make the diagnosis as early as possible in order to plan the treatment and to provide a better life quality to the patients. PMID:27703936

  19. 45,X/47,XXX Mosaicism and Short Stature.

    PubMed

    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. PMID:26137340

  20. 45,X/47,XXX Mosaicism and Short Stature.

    PubMed

    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.

  1. Towards identification of molecular mechanisms of short stature

    PubMed Central

    2013-01-01

    Growth evaluations are among the most common referrals to pediatric endocrinologists. Although a number of pathologies, both primary endocrine and non-endocrine, can present with short stature, an estimated 80% of evaluations fail to identify a clear etiology, leaving a default designation of idiopathic short stature (ISS). As a group, several features among children with ISS are suggestive of pathophysiology of the GH–IGF-1 axis, including low serum levels of IGF-1 despite normal GH secretion. Candidate gene analysis of rare cases has demonstrated that severe mutations of genes of the GH–IGF-1 axis can present with a profound height phenotype, leading to speculation that a collection of mild mutations or polymorphisms of these genes can explain poor growth in a larger proportion of patients. Recent genome-wide association studies have identified ~180 genomic loci associated with height that together account for approximately 10% of height variation. With only modest representation of the GH–IGF-1 axis, there is little support for the long-held hypothesis that common genetic variants of the hormone pathway provide the molecular mechanism for poor growth in a substantial proportion of individuals. The height-associated common variants are not observed in the anticipated frequency in the shortest individuals, suggesting rare genetic factors with large effect are more plausible in this group. As we advance towards establishing a molecular mechanism for poor growth in a greater percentage of those currently labeled ISS, we highlight two strategies that will likely be offered with increasing frequency: (1) unbiased genetic technologies including array analysis for copy number variation and whole exome/genome sequencing and (2) epigenetic alterations of key genomic loci. Ultimately data from subsets with similar molecular etiologies may emerge that will allow tailored interventions to achieve the best clinical outcome. PMID:24257104

  2. Towards identification of molecular mechanisms of short stature.

    PubMed

    Waldman, Lindsey A; Chia, Dennis J

    2013-11-20

    Growth evaluations are among the most common referrals to pediatric endocrinologists. Although a number of pathologies, both primary endocrine and non-endocrine, can present with short stature, an estimated 80% of evaluations fail to identify a clear etiology, leaving a default designation of idiopathic short stature (ISS). As a group, several features among children with ISS are suggestive of pathophysiology of the GH-IGF-1 axis, including low serum levels of IGF-1 despite normal GH secretion. Candidate gene analysis of rare cases has demonstrated that severe mutations of genes of the GH-IGF-1 axis can present with a profound height phenotype, leading to speculation that a collection of mild mutations or polymorphisms of these genes can explain poor growth in a larger proportion of patients. Recent genome-wide association studies have identified ~180 genomic loci associated with height that together account for approximately 10% of height variation. With only modest representation of the GH-IGF-1 axis, there is little support for the long-held hypothesis that common genetic variants of the hormone pathway provide the molecular mechanism for poor growth in a substantial proportion of individuals. The height-associated common variants are not observed in the anticipated frequency in the shortest individuals, suggesting rare genetic factors with large effect are more plausible in this group. As we advance towards establishing a molecular mechanism for poor growth in a greater percentage of those currently labeled ISS, we highlight two strategies that will likely be offered with increasing frequency: (1) unbiased genetic technologies including array analysis for copy number variation and whole exome/genome sequencing and (2) epigenetic alterations of key genomic loci. Ultimately data from subsets with similar molecular etiologies may emerge that will allow tailored interventions to achieve the best clinical outcome.

  3. Concentration of Selected Metals in Whole Blood, Plasma, and Urine in Short Stature and Healthy Children.

    PubMed

    Klatka, Maria; Błażewicz, Anna; Partyka, Małgorzata; Kołłątaj, Witold; Zienkiewicz, Ewa; Kocjan, Ryszard

    2015-08-01

    The short stature in children is defined as height below the third percentile from the mean for age and gender. This problem affects about 3% of young people. More than 20,000 children in Poland have problems with short stature. There is not much information available in the literature on the study of metals in blood, plasma, and urine in children with short stature. The study was conducted on a group of 56 short stature Polish children and 35 healthy children. The content of metals was determined using high-performance ion chromatography and inductively coupled plasma mass spectrometry methods. The study revealed significant differences between the content of selected metals in body fluids between a short stature group and healthy children. There were significant differences in the Fe, Cu, and Ni concentrations between the groups with respect to the hormonal therapy. There were no significant differences between the groups with respect to the area where the children lived. The results showed no statistically significant differences between metal concentration and age, body weight, and height. The study demonstrated statistically significant differences between the content of metals in body fluids in short stature children compared with the healthy children. It seems that the difference in the concentration of certain elements may also be the result of growth hormone therapy and the interaction between various metals. Both the alterations in the content of metals and their mutual interactions may play an important role in the pathogenesis of short stature children.

  4. [TREATMENT OF SHORT STATURE PATIENTS WITH NOPMAL GROWTH HORMONE SECRETION OF HYPOPHIS].

    PubMed

    Sprinchuk, N A; Samson, O J; Bol'shova, E V

    2014-12-01

    The article presents the treatment outcome in 86 children with short stature associated with different endocrine pathology and saved growth hormone secretion (congenital adrenal hyperplasia chondrodystrophy, Turner syndrome, idiopathic short stature, syndrome biologically inactive growth hormone and other genetically determined pathology). This study extends prior knowledge about the outcomes of the treatment with recombinant growth hormone and luteinizing hormone--releasing hormone analogue (alone or in combination) in short patients with poor prognosis of final height. PMID:26638471

  5. Idiopathic Short Stature due to Novel Heterozygous Mutation of the Aggrecan Gene

    PubMed Central

    Quintos, Jose Bernardo; Guo, Michael H.; Dauber, Andrew

    2015-01-01

    Background Recently, whole exome sequencing identified heterozygous defects in the Aggrecan gene (ACAN) in three families with short stature and advanced bone age. Objective We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype and confirms that ACAN sequencing is warranted in patients with this rare constellation of findings. Results We present a 5 1/2 year old male with a family history of short stature in 3 generations. The maternal grandfather stands 144.5 cm (Ht SDS -4.7), mother 147.7 cm (Ht SDS -2.6), and index case 99.2 cm (Ht SDS -2.7). Our prepubertal patient has significant bone age advancement (bone age 8 years at chronologic age 5 1/2 years) resulting in a poor predicted adult height of 142 cm (Ht SDS -5.1). DNA sequencing identified a novel heterozygous variant in ACAN, which encodes aggrecan, a proteoglycan in the extracellular matrix of growth plate and other cartilaginous tissues. The mutation (p.Gly1797Glyfs*52) results in premature truncation and presumed loss of protein function. Conclusion Mutations in aggrecan gene should be included in the differential diagnosis of the child with idiopathic short stature or familial short stature and bone age advancement. PMID:25741789

  6. Managing idiopathic short stature: role of somatropin (rDNA origin) for injection

    PubMed Central

    Frindik, J Paul; Kemp, Stephen F

    2010-01-01

    Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH) deficiency and in whom the etiology of the short stature is not identified. Between 1985 and 2000, more than 40 studies were published regarding GH therapy for ISS. Only 12 of these had data to adult height, of which only 4 were controlled studies. A subsequent placebo-controlled study that followed subjects to adult height indicated that there was a gain of 3.7–7.5 cm in height with GH treatment. In 2003, the US Federal Drug Administration (FDA) approved GH for treatment of short stature. Even before FDA approval, patients with ISS made up about 20% of patients in GH databases, which is largely unchanged since FDA approval. There remains some controversy as to whether GH should be used to treat ISS. This controversy centers on the fact that there has been no definitive demonstration that short stature results in a disadvantage or problems with psychological adjustment, and thus, no demonstration that GH therapy results in improvement in quality of life. PMID:20631818

  7. Short stature in a mother and daughter with terminal deletion of Xp22.3

    SciTech Connect

    Schwinger, E.; Kirschstein, M.; Konermann, T.

    1996-05-03

    Short stature in females is often caused by homozygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easily missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases. 8 refs., 3 figs.

  8. Orthodontic treatment for a mandibular prognathic girl of short stature under growth hormone therapy.

    PubMed

    Pan, Chin-Yun; Lan, Ting-Hung; Chou, Szu-Ting; Tseng, Yu-Chuan; Chang, Jenny Zwei-Chieng; Chang, Hong-Po

    2013-12-01

    This report presents a case of a 12-year-old girl with maxillary deficiency, mandibular prognathism, and facial asymmetry, undergoing growth hormone (GH) therapy due to idiopathic short stature. Children of short stature with or without GH deficiency have a deviating craniofacial morphology with overall smaller dimensions; facial retrognathism, especially mandibular retrognathism; and increased facial convexity. However, a complete opposite craniofacial pattern was presented in our case of a skeletal Class III girl with idiopathic short stature. The orthodontic treatment goal was to inhibit or change the direction of mandibular growth and stimulate the maxillary growth of the girl during a course of GH therapy. Maxillary protraction and mandibular retraction were achieved using occipitomental anchorage (OMA) orthopedic appliance in the first stage of treatment. In the second stage, the patient was treated with a fixed orthodontic appliance using a modified multiple-loop edgewise archwire technique of asymmetric mechanics and an active retainer of vertical chin-cup. The treatment led to an acceptable facial profile and obvious facial asymmetry improvement. Class I dental occlusion and coincident dental midline were also achieved. A 3½-year follow-up of the girl at age 18 showed a stable result of the orthodontic and dentofacial orthopedic treatment. Our case shows that the OMA orthopedic appliance of maxillary protraction combined with mandibular retraction is effective for correcting skeletal Class III malocclusion with midface deficiency and mandibular prognathism in growing children with idiopathic short stature undergoing GH therapy.

  9. Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.

    PubMed

    Battaglia, A; Orsitto, E; Gibilisco, G

    1996-03-29

    We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.

  10. Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.

    PubMed

    Strenge, S; Froster, U G

    1998-12-28

    Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded. PMID:9880217

  11. Spine Shape in Sagittal and Frontal Planes in Short- and Tall-Statured Children Aged 13 Years

    ERIC Educational Resources Information Center

    Lichota, Malgorzata

    2008-01-01

    Study aim: To assess spine curvatures, postural categories and scolioses in short and tall children aged 13 years. Material and methods: Short-statured (below Percentile 10) and tall-statured (above Percentile 90) boys (n = 13 and 18, respectively) and girls (n = 10 and 11, respectively) aged 13 years were studied. The following angles of spine…

  12. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

    PubMed

    Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

    2016-04-01

    SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients.

  13. Medically Underserved Girls Receive Less Evaluation for Short Stature

    PubMed Central

    Feemster, Kristen A.; Pati, Susmita; Ramos, Mark; Grundmeier, Robert; Cucchiara, Andrew J.; Stallings, Virginia A.

    2011-01-01

    OBJECTIVE: To determine if gender is associated with diagnostic evaluation by primary care pediatricians caring for children with growth-faltering. PATIENTS AND METHODS: This was a retrospective study of children who were attending 4 urban pediatric primary care practices affiliated with a tertiary pediatric hospital. Growth-faltering was defined as height at the <5th percentile or a z-score decrease of ≥1.5 SDs before 18 months of age or ≥1 SD thereafter. For each child, height z score, age, gender, race, insurance, diagnostic tests, and subspecialist appointments were examined. RESULTS: Of 33 476 children, 3007 had growth-faltering (mean height: −1.5 ± 1.0 vs 0.3 ± 0.9 SDs in those without growth-faltering). Boys comprised 53% of the growth-faltering group (vs 51% of the nonfaltering group; P < .01). Among children with growth-faltering, 2.8% had endocrinology appointments (vs 0.8% of others; P < .0001) and 6% had gastroenterology appointments (vs 1.5% of others; P < .0001). Subspecialty care was not associated with gender. Pediatricians ordered diagnostic tests for a significantly greater proportion of children with growth-faltering than others. In multivariate analysis of height z score among children with growth-faltering, tests for chromosomes (1.4% of short girls vs 0.4% of short boys; P < .005) and growth hormone/insulin-like growth factor axis (0.9% of short girls vs 1.8% of short boys; P < .05) were associated with gender. Thirty-five percent of the girls for whom chromosome testing was performed were 12 years old or older. CONCLUSIONS: Patterns in diagnostic testing of children with growth-faltering by their pediatricians may lead to underdiagnosis of Turner syndrome and growth hormone deficiency among girls. PMID:21422085

  14. Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.

    PubMed

    Seow, W K

    1989-06-01

    In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.

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

    PubMed Central

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

    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 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. Conclusions: 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. PMID:27533310

  16. Evaluation of thyroid function in children with undiagnosed short stature in north India.

    PubMed

    Virmani, A; Menon, P S; Karmarkar, M G; Kochupillai, N; Seth, V; Ghai, O P; Gopinath, P G

    1987-09-01

    Fifty-five children with short stature were investigated for the aetiology of short stature with special reference to hypothyroidism. Clinical and laboratory parameters including anthropometry were determined to exclude any chronic systemic disorders. Thyroid function tests such as thyroxine (T4) and thyroid stimulating hormone (TSH) estimation by radioimmunoassay, radioactive iodine uptake and thyroid scan, using 131I and perchlorate discharge test, were performed. In addition, growth hormone was estimated under basal conditions and after insulin-induced hypoglycaemia. Thirty-five were boys and 20 were girls. The age at presentation in the boys was 3-12 years whereas in the girls it was 8-13 years. Forty-three of the 55 children had delayed bone age. Abnormal thyroid function was present in 25 children (45.45%). Of these, 11 (20%) had primary hypothyroidism with low or normal uptake, whereas 14 (25.45%) had glands with high uptake of 131I and elevated TSH. Three children with primary hypothyroidism had reduced growth hormone reserve. On follow-up with thyroxine, there was an increase in growth velocity in all. This study indicates that thyroid function tests should be performed routinely in children with undiagnosed short stature.

  17. Short Stature in Partially Corrected X-Linked Severe Combined Immunodeficiency- Suboptimal Response to Growth Hormone

    PubMed Central

    De Ravin, Suk See; Shum, Elaine; Zarember, Kol A.; Rezvani, Geoffrey; Rosenfeld, Ron G.; Stratakis, Constantine A.; Malech, Harry L.

    2009-01-01

    Background X-linked severe combined immunodeficiency (XSCID) results from defects in the common cytokine receptor γ chain (γc) required for signaling by receptors for interleukin (IL)-2, -4, -7, -9, -15, and -21 (1). Following haploidentical bone marrow transplant without myelo-conditioning for XSCID, most patients achieve partial reconstitution(2) often limited to T lymphocytes. Many partially corrected patients manifest extreme short stature (<5th percentile). Previous reports have implicated γc in growth hormone (GH) receptor signaling, thus severe growth failure in XSCID may be related to the underlying γc defect. Objective To evaluate the GH/insulin-like growth factor (IGF-1) axes in 3 children with XSCID and partial immune reconstitution with profound growth failure. Methods The IGF-1 generation test was performed by administering recombinant GH subcutaneously for 5 days, and measuring serum levels for IGF-1 before GH injection, and on days 5 and 8. Results Study of the somatotropic axis revealed profoundly diminished IGF-1 production following rGH challenge in all 3 patients. Conclusion The data indicate that the GH/IGF-1 axes in these partially corrected XSCID patients with severe short stature is profoundly impaired, and supports previous studies suggesting that the underlying γc defect may contribute to the severe growth failure in XSCID. This supports a role for defective γc in extreme short stature of XSCID, and raises the possibility of recombinant IGF-1 treatment to bypass this defect. PMID:19189700

  18. Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

    PubMed

    Valetto, Angelo; Bertini, Veronica; Michelucci, Angela; Toschi, Benedetta; Dati, Eleonora; Baroncelli, Giampietro I; Bertelloni, Silvano

    2016-04-01

    Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplications involving SHOX have been rarely reported, and they were found in individuals with short, normal and tall stature. An adopted boy with short stature, isodicentric Y chromosome and 3 copies of SHOX is described. Normal growth hormone (GH) secretion and insulin-like growth factor 1 (IGF1) increase during an IGF1 generation test were found, ruling out impaired GH-IGF1 axis. No other organic or psychiatric causes of impaired growth were found. GH treatment improved linear growth, as reported in children with SHOX haploinsufficiency. This new report and the review of literature support that SHOX duplication may cause short stature, especially in those children with duplications of the 5'SHOX regulatory elements. Chromosome analysis and detailed molecular characterization of the duplicated region should be warranted in individuals with SHOX duplications in order to investigate the presence of occult chromosome imbalance. Additional reports and follow-up till adult height are needed to give conclusions on long-term efficacy and safety of GH treatment in short children with SHOX duplication. PMID:27194969

  19. Height-reducing variants and selection for short stature in Sardinia.

    PubMed

    Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Del Vecchyo, Diego Ortega; 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

    2015-11-01

    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 in Sardinia (0.87% versus <0.01% elsewhere) and in the homozygous state causes Laron syndrome involving short stature. We find that this variant reduces height in heterozygotes by an average of 4.2 cm (-0.64 s.d.). The other variant, in the imprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces height by an average of 1.83 cm (-0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequencies in Sardinians than would be expected by genetic drift. The findings are consistent with selection for shorter stature in Sardinia and a suggestive human example of the proposed 'island effect' reducing the size of large mammals.

  20. Height-reducing variants and selection for short stature in Sardinia

    PubMed Central

    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

    2015-01-01

    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 identified two variants with large effects. One is a stop codon in the GHR gene, relatively frequent in Sardinia (0.87% vs <0.01% elsewhere), which in homozygosity causes the short stature Laron syndrome. We find that it reduces height in heterozygotes by an average of 4.2 cm (−0.64 s.d). The other variant, in the imprinted KCNQ1 gene (MAF = 7.7% vs <1% elsewhere) reduces height by an average of 1.83 cm (−0.31 s.d.) when maternally inherited. Additionally, polygenic scores indicate that known height-decreasing alleles are at systematically higher frequency in Sardinians than would be expected by genetic drift. The findings are consistent with selection toward shorter stature in Sardinia and a suggestive human example of the proposed “island effect” reducing the size of large mammals. PMID:26366551

  1. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

    PubMed

    Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T

    2014-05-01

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

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

    PubMed

    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 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. PMID:26543472

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

    PubMed Central

    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 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. PMID:26543472

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

    PubMed Central

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

    2016-01-01

    Abstract Objective: To describe the prevalence of short stature among children of Karapotó ethnic background. Methods: 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/Ageindex, using as cutoff z score≤−2. The prevalence of short stature was determined by compa-ring 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, where as the chi-square test with Yates correction was used for dichotomous variables, considering as statistically significant p-values≤0.05. Results: 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. Conclusions: 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. PMID:26652132

  5. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

    PubMed

    Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

    2016-04-01

    SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients. PMID:27194967

  6. Short stature with umbilical hernia - Not always due to cretinism: A report of two cases.

    PubMed

    Gadve, Sharvil S; Sarma, Dipti; Saikia, Uma K

    2012-05-01

    A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers. PMID:22629520

  7. SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

    PubMed Central

    Fukami, Maki; Seki, Atsuhito; Ogata, Tsutomu

    2016-01-01

    SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating multiple target genes including BNP,Fgfr3, Agc1, and Ctgf. SHOX haploinsufficiency frequently results from deletions and duplications in PAR1 involving SHOX exons and/or the cis-acting enhancers, while exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy require confirmation. Future challenges in SHOX research include elucidating its precise function in the developing limbs, identifying additional cis-acting enhancers, and determining optimal therapeutic strategies for patients. PMID:27194967

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

    PubMed

    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.

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

    PubMed

    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. PMID:23869390

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

    PubMed

    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.

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

    PubMed

    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. PMID:25524035

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

    PubMed

    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.

  13. The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature

    PubMed Central

    Becker, Noémie SA; Verdu, Paul; Georges, Myriam; Duquesnoy, Philippe; Froment, Alain; Amselem, Serge; Le Bouc, Yves; Heyer, Evelyne

    2013-01-01

    African pygmies are at the lower extreme of human variation in adult stature and many evolutionary hypotheses have been proposed to explain this phenotype. We showed in a recent study that the difference in average stature of about 10 cm observed between contemporary pygmies and neighboring non-pygmies has a genetic component. Nevertheless, the genetic basis of African pygmies' short stature remains unknown. Using a candidate-gene approach, we show that intronic polymorphisms in GH receptor (GHR) and insulin-like growth factor 1 (IGF1) genes present outlying values of the genetic distance between Baka pygmies and their non-pygmy Nzimé neighbors. We further show that GHR and IGF1 genes have experienced divergent natural selection pressures between pygmies and non-pygmies throughout evolution. In addition, these SNPs are associated with stature in a sample composed of 60 pygmies and 30 non-pygmies and this association remains significant when correcting for population structure for the GHR locus. We conclude that the GHR and IGF1 genes may have a role in African pygmies' short stature. The use of phenotypically contrasted populations is a promising strategy to identify new variants associated with complex traits in humans. PMID:23047741

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

    PubMed

    Quitmann, Julia Hannah; 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

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

    PubMed Central

    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

  16. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

    PubMed

    Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Le Caignec, Cédric; Crow, Yanick J; David, Albert

    2013-08-01

    The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal-Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow-Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR-17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome.

  17. Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome.

    PubMed

    Verstraeten, Elke; Symoens, Sofie; Renard, Marjolijn; Callewaert, Bert; Vandekerckhove, Kristof; De Backer, Julie; Malfait, Fransiska; Marks, Luc; Coucke, Paul; De Paepe, Anne; Loeys, Bart

    2010-07-01

    We report a 10-year-old male proband, born from consanguineous marriage, presenting with short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphism. Clinical, biochemical and molecular findings did not match any of the well-described connective tissue syndromes in the differential diagnosis for this specific combination of features. We presume that the phenotype presented in this patient may constitute a newly recognized syndrome of likely autosomal recessive inheritance.

  18. The Impact of Short Stature on HRQoL in Children with Chronic Kidney Disease

    PubMed Central

    Al-Uzri, Amira; Matheson, Matthew; Gipson, Debbie S.; Mendley, Susan R.; Hooper, Stephen R.; Yadin, Ora; Rozansky, David; Moxey-Mims, Marva; Furth, Susan L.; Warady, Bradley A.; Gerson, Arlene C

    2013-01-01

    Objectives To compare the health-related quality of life (HRQoL) of children with CKD and short stature (SS) to children with CKD and normal height (NH), to evaluate the impact of catch up growth and growth hormone use on HRQoL, and to describe the concordance of perceptions of HRQoL between children with SS and NH and their parents. Study design 483 children and/or parents enrolled in the multicenter CKiD study and had completed the Pediatric Quality of Life Inventory (PedsQL, V4.0) on at least two CKiD study visits comprised this sub-study population. Participants were dichotomized into NH or SS groups. The demographic characteristics that varied at baseline (sex, GFR and parent education) were controlled for in the main analysis evaluating the impact of catch up growth and use of growth hormone on HRQoL. Results Multivariate modeling (controlling for confounding variables) revealed a significant association between both catch up growth and growth hormone usage on parent-proxy reports of child physical functioning (p<.05) and social functioning (p<.05). Older children with CKD (15 to 17 years old) had significantly higher ratings than their parents on PedsQL Physical, Emotional, Social and School Functioning scales compared with younger children (8–14 years old). Conclusion The finding that height gains and growth hormone use are associated with increases in physical and social functioning by parent report provides additional support for interventions to improve height in children with CKD. The importance of evaluating both the parent and child perceptions of HRQoL is supported by our results. PMID:23628375

  19. Variation in Methods of Predicting Adult Height in Children with Idiopathic Short Stature

    PubMed Central

    Topor, Lisa Swartz; Feldman, Henry A.; Bauchner, Howard; Cohen, Laurie E.

    2013-01-01

    Objective Recombinant human growth hormone (GH) is approved for treatment of children with idiopathic short stature (ISS). Endocrinologists often depend on algorithms to predict adult height. As algorithm performance is often included in treatment decision, we sought to evaluate agreement among height prediction formulas. Methods We identified 3 commonly used algorithms for height prediction: Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Khamis-Roche (KR). We constructed simulated samples of children with typical distributions of ages, heights, weights, bone ages, and parental heights seen in patients with ISS, and applied the algorithms to the simulated children to determine if predicted adult height was <160 cm for boys or <150 cm for girls, the 1.2nd height percentiles for adults. Results We found substantial disagreement amongst algorithms in the percentage of simulated children with predicted adult height < 1.2nd percentile, a cut-off that may influence GH treatment decisions. Using the BP formula, 43% of boys and 81% of girls had predicted adult height below this threshold, whereas only 3% of boys and 0.2% of girls had predicted heights < 1.2nd percentile using the KR method. RWT predictions fell in between. Overall agreement of the methods was poor (kappa = 0.21) in boys and negative in girls. Conclusions Wide variation exists among formulas used to predict adult height. As these algorithms may be used in decisions about whether to initiate GH treatment and to assess GH’s efficacy in research trials, it is important for parents, pediatricians, and investigators to recognize the considerable variation involved in height prediction. PMID:20974789

  20. Short Stature: Comparison of WHO and National Growth Standards/References for Height.

    PubMed

    Christesen, Henrik Thybo; Pedersen, Birgitte Tønnes; Pournara, Effie; Petit, Isabelle Oliver; Júlíusson, Pétur Benedikt

    2016-01-01

    The use of appropriate growth standards/references is of significant clinical importance in assessing the height of children with short stature as it may determine eligibility for appropriate therapy. The aim of this study was to determine the impact of using World Health Organization (WHO) instead of national growth standards/references on height assessment in short children. Data were collected from routine clinical practice (1998-2014) from nine European countries that have available national growth references and were enrolled in NordiNet® International Outcome Study (IOS) (NCT00960128), a large-scale, non-interventional, multinational study. The patient cohort consisted of 5996 short pediatric patients diagnosed with growth hormone deficiency (GHD), Turner syndrome (TS) or born small for gestational age (SGA). The proportions of children with baseline height standard deviation score (SDS) below clinical cut-off values (-2 SDS for GHD and TS; -2.5 SDS for SGA) based on national growth references and WHO growth standards/references were compared for children aged <5 years and children aged ≥5 years. In seven of the countries evaluated, significantly fewer children aged ≥5 years with GHD (22%; P<0.0001), TS (21%; P<0.0001) or born SGA (32%; P<0.0001) had height below clinical cut-off values using WHO growth references vs. national references. Likewise, among children aged <5 years in the pooled analysis of the same seven countries, a significantly lower proportion of children with GHD (8%; P<0.0001), TS (12%; P = 0.0003) or born SGA (12%; P<0.0001) had height below clinical cut-off values using WHO growth standards vs. national references. In conclusion, in NordiNet® IOS the number of patients misclassified using WHO growth standards/references was significantly higher than with national references. This study highlights that, although no growth reference has 100% sensitivity for identifying growth disorders, the most recent national or regional growth

  1. Short Stature: Comparison of WHO and National Growth Standards/References for Height

    PubMed Central

    Christesen, Henrik Thybo; Pedersen, Birgitte Tønnes; Pournara, Effie; Petit, Isabelle Oliver; Júlíusson, Pétur Benedikt

    2016-01-01

    The use of appropriate growth standards/references is of significant clinical importance in assessing the height of children with short stature as it may determine eligibility for appropriate therapy. The aim of this study was to determine the impact of using World Health Organization (WHO) instead of national growth standards/references on height assessment in short children. Data were collected from routine clinical practice (1998–2014) from nine European countries that have available national growth references and were enrolled in NordiNet® International Outcome Study (IOS) (NCT00960128), a large-scale, non-interventional, multinational study. The patient cohort consisted of 5996 short pediatric patients diagnosed with growth hormone deficiency (GHD), Turner syndrome (TS) or born small for gestational age (SGA). The proportions of children with baseline height standard deviation score (SDS) below clinical cut-off values (–2 SDS for GHD and TS; –2.5 SDS for SGA) based on national growth references and WHO growth standards/references were compared for children aged <5 years and children aged ≥5 years. In seven of the countries evaluated, significantly fewer children aged ≥5 years with GHD (22%; P<0.0001), TS (21%; P<0.0001) or born SGA (32%; P<0.0001) had height below clinical cut-off values using WHO growth references vs. national references. Likewise, among children aged <5 years in the pooled analysis of the same seven countries, a significantly lower proportion of children with GHD (8%; P<0.0001), TS (12%; P = 0.0003) or born SGA (12%; P<0.0001) had height below clinical cut-off values using WHO growth standards vs. national references. In conclusion, in NordiNet® IOS the number of patients misclassified using WHO growth standards/references was significantly higher than with national references. This study highlights that, although no growth reference has 100% sensitivity for identifying growth disorders, the most recent national or regional

  2. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

    PubMed Central

    Chen, D.-H.; Sul, Y.; Weiss, M.; Hillel, A.; Lipe, H.; Wolff, J.; Matsushita, M.; Raskind, W.; Bird, T.

    2010-01-01

    Background: Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. Other mutations in this same gene have been described in separate families with various skeletal dysplasias. Further clarification is needed of the different phenotypes associated with this gene. Methods: We performed clinical evaluation, electrophysiology, and genetic analysis of the TRPV4 gene in 2 families with CMT2C. Results: Two multigenerational families had a motor greater than sensory axonal neuropathy associated with variable vocal cord paresis. The vocal cord paresis varied from absent to severe, requiring permanent tracheotomy in 2 subjects. One family with mild neuropathy also manifested pronounced short stature, more than 2 SD below the average height for white Americans. There was one instance of dolichocephaly. A novel S542Y mutation in the TRPV4 gene was identified in this family. The other family had a more severe, progressive, motor neuropathy with sensory loss, but less remarkable short stature and an R315W mutation in TRPV4. Third cranial nerve involvement and sleep apnea occurred in one subject in each family. Conclusion: CMT2C with axonal neuropathy, vocal cord paresis, and short stature is a unique syndrome associated with mutations in the TRPV4 gene. Mutations in TRPV4 can cause abnormalities in bone, peripheral nerve, or both and may result in highly variable orthopedic and neurologic phenotypes. GLOSSARY CMAP = compound muscle action potential; CMT = Charcot-Marie-Tooth; CMT2C = Charcot-Marie-Tooth Type 2C; HMSN = hereditary motor and sensory neuropathy; NCV = nerve conduction velocity; RFLP = restriction fragment length polymorphism; SMA = spinal muscular atrophy; SNAP = sensory nerve action potential; SPSMA = scapuloperoneal spinal muscular atrophy. PMID:21115951

  3. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

    PubMed

    Cauwels, R G E C; De Coster, P J; Mortier, G R; Marks, L A M; Martens, L C

    2005-08-01

    The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.

  4. Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

    PubMed

    Bunyan, David J; Baffico, Maria; Capone, Lucia; Vannelli, Silvia; Iughetti, Lorenzo; Schmitt, Sébastien; Taylor, Emma-Jane; Herridge, Adam A; Shears, Deborah; Forabosco, Antonino; Coviello, Domenico A

    2016-04-01

    Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving conserved non-coding cis-regulatory DNA elements that show enhancer activity. Recently, two SHOX conserved non-coding element duplications, one upstream and one downstream, were reported in patients referred with idiopathic short stature. To further evaluate the role of these duplications in SHOX-related disorders, we describe seven patients (five with Leri-Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non-coding element regions, identified by multiplex ligation-dependent probe amplification. In addition, we show data from 32 patients with an apparently identical downstream duplication that includes a proposed putative regulatory element (identified by multiplex ligation-dependent probe amplification or array comparative genome hybridization), which results in a variable phenotype from normal to mild Leri-Weill dyschondrosteosis. These additional data provide further evidence that duplications of upstream and downstream long range cis-regulatory DNA elements can result in a SHOX-related phenotype. PMID:26698168

  5. Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese

    PubMed Central

    Wang, Cheng-Zhi; Guo, Ling-Ling; Han, Bai-Yu; Wang, An-Ping; Liu, Hong-Yan; Su, Xing; Guo, Qing-Hua; Mu, Yi-Ming

    2016-01-01

    Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from −1.99 ± 1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to −1.47 ± 1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain. PMID:27190512

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

    PubMed

    Wilson, Hannah J; Dickinson, Federico; Griffiths, Paula L; Bogin, Barry; Hobbs, Matthew; Varela-Silva, M Inês

    2014-04-01

    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 child's adiposity using cross sectional design on Maya schoolchildren aged 7-9 and their mothers (n = 57 pairs). We compared maternal chronic early life environment (stature) with her child's adiposity (body mass index [BMI] z-score, waist circumference z-score, and percentage body fat) using multiple linear regression, controlling for the child's own environmental exposures (household sanitation and maternal parity). The research was performed in the south of Merida, Yucatan, Mexico, a low socioeconomic urban area in an upper middle income country. The Maya mothers were very short, with a mean stature of 147 cm. The children had fairly high adiposity levels, with BMI and waist circumference z-scores above the reference median. Maternal stature did not significantly predict any child adiposity indicator. There does not appear to be an intergenerational component of maternal early life chronic under-nutrition on her child's obesity risk within this free living population living in poverty. These results suggest that the co-existence of very short stature and obesity appears to be primarily due to exposures and experiences within a generation rather than across generations.

  7. A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormone for idiopathic short stature

    PubMed Central

    Goldyn, Andrea K.; Nabhan, Zeina M.; Eugster, Erica A.

    2014-01-01

    Background Short stature is a common reason for referral to the pediatric endocrine clinic. In 2003, the US Food and Drug Administration (FDA) approved the use of growth hormone (GH) for the treatment of children with idiopathic short stature (ISS). Objective To explore if this indication changed referrals for short stature (SS). Design/Methods A retrospective chart review of children seen for SS in the pediatric endocrine clinic between July 1998 and June 1999 (interval one, n=138) and July 2005–June 2006 (interval two, n=268) was performed. Variables collected included age, gender, height (h), and parental heights. Results Average height standard deviation score (HT-SDS) was −2.11±0.9 in interval one and −2.14±0.83 in interval two (p=ns). No differences in age, gender distribution, relationship between child and parental heights, the proportion of subjects started on GH for ISS or in the HT-SDS of those treated between the two intervals were identified. Nearly half of all children referred in each interval did not meet the technical criteria for short stature. Conclusions No differences in referral patterns for SS in our area following FDA approval of GH for ISS were identified. Although referrals appear unchanged, additional investigation of GH prescribing patterns before and after this new indication is needed. Continued education of primary care physicians and the general public regarding the definition of SS and the eligibility for GH therapy should be pursued. PMID:21528823

  8. Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

    PubMed

    Laban, N B; Tasic, V B; Danilovski, D; Polenakovic, M; Gucev, Z S

    2015-01-01

    Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.

  9. Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

    PubMed Central

    Samanich, Joy; Montagna, Cristina; Morrow, Bernice E.; Babcock, Melanie

    2012-01-01

    The 22q13.3 deletion syndrome has been widely reported, with a known phenotype including global developmental delay, normal to accelerated growth and a characteristic facial appearance. A duplication syndrome involving this region has also been reported, with a somewhat more variable phenotype including psychomotor retardation, growth restriction, characteristic facial appearance differing from that seen in the deletion syndrome, and multiple malformations. The majority of reported patients have terminal duplications, with only three previous reports of interstitial duplication of the region. Herein we report a young woman with a de novo 569 kb interstitial duplication of 22q13.2 and short stature, speech and language impairment, refractive amblyopia, menorrhagia and facial dysmorphism. Comparison of her phenotype to previously reported patients with interstitial duplications reveals common traits including growth restriction, craniofacial anomalies and developmental delays. Included in the duplicated region is the gene EP300, mutations and deletions of which are implicated in Rubinstein-Taybi syndrome and thyrotroph embryonic factor, which has been proposed to be related to the pituitary hypoplasia seen in one patient with a large duplication, and several other genes without clear relation to disease.

  10. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

    PubMed

    Shima, Hirohito; Tanaka, Toshiaki; Kamimaki, Tsutomu; Dateki, Sumito; Muroya, Koji; Horikawa, Reiko; Kanno, Junko; Adachi, Masanori; Naiki, Yasuhiro; Tanaka, Hiroyuki; Mabe, Hiroyo; Yagasaki, Hideaki; Kure, Shigeo; Matsubara, Yoichi; Tajima, Toshihiro; Kashimada, Kenichi; Ishii, Tomohiro; Asakura, Yumi; Fujiwara, Ikuma; Soneda, Shun; Nagasaki, Keisuke; Hamajima, Takashi; Kanzaki, Susumu; Jinno, Tomoko; Ogata, Tsutomu; Fukami, Maki

    2016-07-01

    The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs remains to be clarified. Here, we performed systematic molecular analyses of SHOX for 328 Japanese patients with ISS or LWD. SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases. CNVs around SHOX were identified in 16 cases, although the ~47 kb deletion frequently reported in European patients was absent in our cases. Probably damaging mutations and benign/silent substitutions were detected in four cases, respectively. Although CNE-linked substitutions were detected in 15 cases, most of them affected poorly conserved nucleotides and were shared by unaffected individuals. These results suggest that the frequency and mutation spectrum of SHOX abnormalities are comparable between Asian and European patients, with the exception of a European-specific downstream deletion. Furthermore, this study highlights the clinical importance and genetic heterogeneity of the SHOX-flanking CNVs, and indicates a limited clinical significance of point mutations in the CNEs.

  11. A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

    PubMed Central

    Abdulkarim, Baroj; Igoillo-Esteve, Mariana; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A.; Harding, Heather P.; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T.; Eizirik, Décio L.; Ron, David

    2015-01-01

    Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation [CReP]) encoding the regulatory subunit of an eIF2α-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2α dephosphorylation and results in β-cell apoptosis. Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multisystem abnormalities. PMID:26159176

  12. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly

    PubMed Central

    Igoillo-Esteve, Mariana; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A.; Harding, Heather P.; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T.; Eizirik, Décio L.; Ron, David

    2015-01-01

    Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation, CReP), encoding the regulatory subunit of an eIF2α-specific phosphatase, in two siblings affected by a novel syndrome of diabetes of youth, with short stature, intellectual disability and microcephaly. The R658C mutation in PPP1R15B affects a conserved amino acid within the domain important for protein phosphatase 1 (PP1) binding. The R658C mutation decreases PP1 binding and eIF2α dephosphorylation, and results in β-cell apoptosis. Our findings support the concept that dysregulated eIF2α phosphorylation, whether decreased by mutation of the kinase (EIF2AK3) in Wolcott-Rallison syndrome or increased by mutation of the phosphatase (PPP1R15B), is deleterious to β-cells and other secretory tissues, resulting in diabetes associated with multi-system abnormalities. PMID:26159176

  13. Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.

    PubMed

    Samanich, Joy; Montagna, Cristina; Morrow, Bernice E; Babcock, Melanie

    2012-03-01

    The 22q13.3 deletion syndrome has been widely reported, with a known phenotype including global developmental delay, normal to accelerated growth and a characteristic facial appearance. A duplication syndrome involving this region has also been reported, with a somewhat more variable phenotype including psychomotor retardation, growth restriction, characteristic facial appearance differing from that seen in the deletion syndrome, and multiple malformations. The majority of reported patients have terminal duplications, with only three previous reports of interstitial duplication of the region. Herein we report a young woman with a de novo 569 kb interstitial duplication of 22q13.2 and short stature, speech and language impairment, refractive amblyopia, menorrhagia and facial dysmorphism. Comparison of her phenotype to previously reported patients with interstitial duplications reveals common traits including growth restriction, craniofacial anomalies and developmental delays. Included in the duplicated region is the gene EP300, mutations and deletions of which are implicated in Rubinstein-Taybi syndrome and thyrotroph embryonic factor, which has been proposed to be related to the pituitary hypoplasia seen in one patient with a large duplication, and several other genes without clear relation to disease. PMID:27625801

  14. Preliminary report on the short stature of Southeast Asian forest dwellers, the Manni, in southern Thailand: lack of an adolescent spurt in plasma IGF-I concentration.

    PubMed

    Ishida, T; Suzuki, J; Duangchan, P; Settheetham-Ishida, W

    1998-03-01

    Plasma concentration of insulin-like growth factor type-I (IGF-I) was studied among the Mannis in Thailand to find a possible cause of their short stature. The Mannis are hunting and gathering indigenous tribal peoples living in Asian tropical rain forests. A total of 50 plasma specimens from three different Manni groups in southern Thailand were used in this study. The concentrations of acid-ethanol extract of plasma IGF-I were measured by radio-immunoassay. We found that (1) plasma concentration of IGF-I in the Mannis was low, (2) there was no adolescent spurt in IGF-I levels, and (3) the post adolescent plasma IGF-I level of the Manni was significantly lower than that of age-matched Japanese. Low IGF-I levels among the Mannis may account for their short stature.

  15. Baseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency

    PubMed Central

    Klesiewicz, Marta

    2016-01-01

    Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluated. GH secretion in the overnight profile and two stimulation tests and insulin-like growth factor 1 (IGF-1) level were measured. Results. Overall, in 16 (26%) moderate (7.0 > peak GH < 10 ng/mL) and in 11 (18%) severe (GH ≤ 7.0 ng/mL) GHD was diagnosed. In children with sGHD BMI Z-score, W/HtR and FAT% were significantly higher, while FFM%, PMM%, and TBW% were significantly lower versus mGHD and versus noGHD subgroups. No significant differences between mGHD and noGHD were found. There were no differences in height SDS and IGF-1 SDS between evaluated subgroups. Night GH peak level correlated significantly with FAT%, FFM%, PMM%, and TBW%, (p < 0.05) in the entire group. Conclusions. Only sGHD is associated with significant impairment of body composition. Body composition analysis may be a useful tool in distinguishing between its severe and moderate form of GHD.

  16. Baseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency

    PubMed Central

    Klesiewicz, Marta

    2016-01-01

    Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluated. GH secretion in the overnight profile and two stimulation tests and insulin-like growth factor 1 (IGF-1) level were measured. Results. Overall, in 16 (26%) moderate (7.0 > peak GH < 10 ng/mL) and in 11 (18%) severe (GH ≤ 7.0 ng/mL) GHD was diagnosed. In children with sGHD BMI Z-score, W/HtR and FAT% were significantly higher, while FFM%, PMM%, and TBW% were significantly lower versus mGHD and versus noGHD subgroups. No significant differences between mGHD and noGHD were found. There were no differences in height SDS and IGF-1 SDS between evaluated subgroups. Night GH peak level correlated significantly with FAT%, FFM%, PMM%, and TBW%, (p < 0.05) in the entire group. Conclusions. Only sGHD is associated with significant impairment of body composition. Body composition analysis may be a useful tool in distinguishing between its severe and moderate form of GHD. PMID:27656208

  17. Baseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency.

    PubMed

    Matusik, Pawel; Klesiewicz, Marta; Klos, Karolina; Stasiulewicz, Martyna; Barylak, Aleksandra; Nazarkiewicz, Patrycja; Malecka-Tendera, Ewa

    2016-01-01

    Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluated. GH secretion in the overnight profile and two stimulation tests and insulin-like growth factor 1 (IGF-1) level were measured. Results. Overall, in 16 (26%) moderate (7.0 > peak GH < 10 ng/mL) and in 11 (18%) severe (GH ≤ 7.0 ng/mL) GHD was diagnosed. In children with sGHD BMI Z-score, W/HtR and FAT% were significantly higher, while FFM%, PMM%, and TBW% were significantly lower versus mGHD and versus noGHD subgroups. No significant differences between mGHD and noGHD were found. There were no differences in height SDS and IGF-1 SDS between evaluated subgroups. Night GH peak level correlated significantly with FAT%, FFM%, PMM%, and TBW%, (p < 0.05) in the entire group. Conclusions. Only sGHD is associated with significant impairment of body composition. Body composition analysis may be a useful tool in distinguishing between its severe and moderate form of GHD. PMID:27656208

  18. Congenital hypotonia: clinical and developmental assessment.

    PubMed

    Harris, Susan R

    2008-12-01

    Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). This is especially important in infants with idiopathic hypotonia. This review outlines and describes the components of the clinical assessment: detailed infant and family history, clinical techniques and characteristics for differentiating hypotonia of central versus peripheral origin, and clinical evaluation (muscle tone, primitive reflexes, deep tendon reflexes, etc). Recent research that has contributed to the differential diagnosis of congenital hypotonia is reviewed and directions for future research are provided. Ideally, the assessment of infants with congenital hypotonia is best accomplished by an interdisciplinary team of developmental specialists including pediatricians, medical geneticists, child neurologists, and physical or occupational therapists. PMID:19046184

  19. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

    PubMed

    Cilliers, Deirdre D; Parveen, Rahat; Clayton, Peter; Cairns, Stephen A; Clarke, Sheila; Shalet, Stephen M; Black, Graeme C M; Newman, William G; Clayton-Smith, Jill

    2007-01-01

    X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (<0.4th centile) and mild learning difficulties and three out of the four had microcephaly. Karyotypes were normal and endocrine investigations confirmed primary testicular failure. The phenotype segregated as an X-linked trait. Haplotype and genetic two-point linkage analysis with 22 microsatellites excluded the whole X chromosome except for a region on Xq25-Xq27 encompassing 13.7Mb with a maximum LOD score of 1.1 for marker DXS8038 at theta=0.05. One family previously described as having XLMR with hypogonadism and short stature maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome.

  20. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

    PubMed

    Millar, David S; Lewis, Mark D; Horan, Martin; Newsway, Vicky; Easter, Tammy E; Gregory, John W; Fryklund, Linda; Norin, Martin; Crowne, Elizabeth C; Davies, Sally J; Edwards, Phillip; Kirk, Jeremy; Waldron, Kim; Smith, Patricia J; Phillips, John A; Scanlon, Maurice F; Krawczak, Michael; Cooper, David N; Procter, Annie M

    2003-04-01

    Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a group of 11 individuals with short stature and idiopathic growth hormone deficiency (IGHD); and a group of 154 controls. Heterozygous mutations were identified in all three groups but disproportionately in the individuals with short stature, both with (odds ratio 25.2; 95% CI, 5.1-132.2) and without (odds ratio 3.6; 95% CI, 1.0-12.9) IGHD. Twenty-four novel GH1 gene lesions were found. Thirteen novel missense mutations were characterized by assaying the signal transduction activity of in vitro expressed variants; six (T27I, K41R, N47D, S71F, S108R, and T175A) exhibited a reduced ability to activate the JAK/STAT pathway. Molecular modeling suggested that both K41R and T175A might compromise GH receptor binding. Seven GH variants (R16C, K41R, S71F, E74K, Q91L, S108C, and a functional polymorphism, V110I) manifested reduced secretion in rat pituitary cells after allowance had been made for the level of expression attributable to the associated GH1 proximal promoter haplotype. A further leader peptide variant (L-11P) was not secreted. Eleven novel mutations in the GH1 gene promoter were assessed by reporter gene assay but only two, including a GH2 gene-templated gene conversion, were found to be associated with a significantly reduced level of expression. Finally, a novel intron 2 acceptor splice-site mutation, detected in a family with autosomal dominant type II IGHD, was shown to lead to the skipping of exon 3 from the GH1 transcript. A total of 15 novel GH1 gene mutations were thus considered to be of probable phenotypic significance. Such lesions are more prevalent than previously recognized and although most may be insufficient on their own to account for the observed clinical phenotype, they are nevertheless likely to

  1. Hypotonia

    MedlinePlus

    ... Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. ...

  2. Hypotonia

    MedlinePlus

    ... Genetic or chromosomal disorders, or defects that may cause brain and nerve damage include: Down syndrome Spinal muscular atrophy Prader-Willi syndrome Tay-Sachs disease Trisomy 13 Other disorders that can lead to ...

  3. Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p

    SciTech Connect

    Al-Attia, H.M.; Sedaghatian, M.R.

    1995-03-13

    This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2{yields}q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem. 9 refs., 3 figs.

  4. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

    PubMed Central

    Gamba, Bruno F.; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A.

    2015-01-01

    The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. PMID:25852446

  5. The floppy infant: evaluation of hypotonia.

    PubMed

    Peredo, Dawn E; Hannibal, Mark C

    2009-09-01

    Hypotonia is characterized by reduced resistance to passive range of motion in joints versus weakness, which is a reduction in the maximum muscle power that can be generated. (Dubowitz, 1985; Crawford, 1992; Martin, 2005) Based on strong research evidence, central hypotonia accounts for 60% to 80% of cases of hypotonia, whereas peripheral hypotonia is the cause in about 15% to 30% of cases. Disorders causing hypotonia often are associated with a depressed level of consciousness, predominantly axial weakness, normal strength accompanying the hypotonia, and hyperactive or normal reflexes. (Martin, 2005; Igarashi, 2004; Richer, 2001; Miller, 1992; Crawford, 1992; Bergen, 1985; Dubowitz, 1985) Based on some research evidence, 50% of patients who have hypotonia are diagnosed by history and physical examination alone. (Paro-Panjan, 2004) Based on some research evidence, an appropriate medical and genetic evaluation of hypotonia in infants includes a karyotype, DNA-based diagnostic tests, and cranial imaging. (Battaglia, 2008; Laugel, 2008; Birdi, 2005; Paro-Panjan, 2004; Prasad, 2003; Richer, 2001; Dimario, 1989) Based on strong research evidence, infant botulism should be suspected in an acute or subacute presentation of hypotonia in an infant younger than 6 months of age who has signs and symptoms such as constipation, listlessness, poor feeding, weak cry, and a decreased gag reflex. (Francisco, 2007; Muensterer, 2000)

  6. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

    PubMed

    Brown, Lindsay A; Rupps, Rosemarie; Peñaherrera, Maria S; Robinson, Wendy P; Patel, Millan S; Eydoux, Patrice; Boerkoel, Cornelius F

    2014-06-01

    Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. Here we report the origin and segregation of the first reported between-arm intrachromosomal insertion of 11p15.5 that encompasses both ICR1 and ICR2 in a multigenerational family with a history of short stature. One (or any odd number) crossover within the centromeric segment during meiosis would produce recombinant chromosomes; one with a duplication of the inserted segment and the other a deletion. In this 4-generation family, there were six instances of transmission of the recombinant chromosome with duplication of the11p15.5 segment, which leads to a SRS phenotype when maternally inherited and a Beckwith-Wiedemann phenotype when paternally transmitted. The size of the duplicated region is ~1.9 Mb as determined by microarray analysis. This study provides further evidence that maternally inherited duplications of 11p15.5 result in a SRS phenotype that includes short stature and other variable features. The methylation status of the extra copy of the duplicated region of 11p15.5 ultimately predicts the resulting phenotype. Thus, the different phenotype based on parental mode of transmission is of importance in the genetic counseling of these patients.

  7. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

    PubMed

    Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris

    2014-01-01

    The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia. It is inherited in an autosomal dominant manner and caused by haploinsufficiency of the TRPS1 gene. We report a family (Mother and 3 of her 4 children) with a novel mutation in the TRPS1 gene. The diagnosis was suspected only after meeting all family members and comparing affected and unaffected siblings since the features of this syndrome might be subtle. The eldest sibling, who had neither GH deficiency nor insensitivity, improved his growth velocity and height SDS after 2 years of treatment with exogenous GH. No change in growth velocity was observed in the untreated siblings during this same period. This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis. PMID:25177352

  8. Outcome analysis of aromatase inhibitor therapy to increase adult height in males with predicted short adult stature and/or rapid pubertal progress: a retrospective chart review

    PubMed Central

    Shams, Kim; Cameo, Tamara; Fennoy, Ilene; Hassoun, Abeer A.; Lerner, Shulamit E.; Aranoff, Gaya S.; Sopher, Aviva B.; Yang, Christine; McMahon, Donald J.; Oberfield, Sharon E.

    2015-01-01

    Background Aromatase inhibitors (AIs) have been used off-label to increase adult height in short adolescent males. Studies have shown that AIs increase the predicted adult height (PAH) while delaying bone age (BA) maturation. We sought to determine whether AI therapy increases PAH in boys with short stature or rapid pubertal progression, and to evaluate any untoward effects. Methods The charts of 27 boys with BA ≥ 13 and short stature [height ≥ 2 standard deviation (SD) below the mean or ≥ 2 SD below mid-parental target height (MPTH)] or rapid pubertal progress, treated with anastrozole were reviewed. Outcome measures included anthropomorphic, hormonal, and metabolic data. Results The AI therapy averaged 21 months (range 14–30 months) for all, with Rx group 1 receiving < 18 months therapy (n = 7) and Rx group 2 receiving 18–30 months therapy (n = 20). Post-therapy, in Rx group 1 and all subjects, there was no significant change in the PAH, height SDS, or BA/chronological age (CA). In Rx group 2, there was a small, nonsignificant increase in PAH, no change in height SDS, and a small decrease in BA/CA. Post-therapy PAH was different from MPTH in all and in both Rx groups 1 and 2, p < 0.02. Eight of them achieved near-final height, averaging 6.73 ± 1.40 cm less than MPTH and 1.91 ± 0.86 cm less than the pre-therapy PAH. Post-therapy, the initially decreased estradiol did not persist but mildly increased testosterone and decreased high-density lipoprotein were noted, as was an increase in hematocrit, and decrease in growth velocity. Conclusions We suggest that although bone age progression may be slightly delayed with longer duration of therapy, an overall short-term AI therapy does not lead to a final height that is greater than the predicted pre-therapy height. PMID:24756052

  9. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

    PubMed

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F; Nöthen, Markus M; Munnich, Arnold; Strom, Tim M; Reis, Andre; Colleaux, Laurence

    2011-06-10

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(∗)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs(∗)20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex. PMID:21620353

  10. Neonatal peripheral hypotonia: clinical and electromyographic characteristics.

    PubMed

    Parano, E; Lovelace, R E

    1993-06-01

    Hypotonia is a common occurrence in pediatrics, especially in the neonatal period. The hypotonic neonate represents a diagnostic challenge for the general pediatrician because hypotonia may be caused by a lesion at any level in the neuraxis: (1) central nervous system (CNS), (2) peripheral nerves (PN), (3) neuromuscular junction, or (4) muscles. Distinguishing among these pathologies is a particularly arduous task. This review will discuss the clinical approach to neonatal hypotonia with emphasis on disorders of the peripheral nervous system and muscle, and the importance of the electrophysiological study as a diagnostic test.

  11. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

    PubMed

    Loucks, Catrina M; Parboosingh, Jillian S; Shaheen, Ranad; Bernier, Francois P; McLeod, D Ross; Seidahmed, Mohammed Z; Puffenberger, Erik G; Ober, Carole; Hegele, Robert A; Boycott, Kym M; Alkuraya, Fowzan S; Innes, A Micheil

    2015-10-01

    Recently, Alazami et al. (2015) identified 33 putative candidate disease genes for neurogenetic disorders. One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. Here, we report a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with a phenotype initially reminiscent of Sensenbrenner syndrome. This postpublication "match" validates DPH1 as a gene underlying syndromic intellectual disability with short stature and craniofacial and ectodermal anomalies, reminiscent of, but distinct from, 3C and Sensenbrenner syndromes. This validation took several years after the independent discoveries due to the absence of effective methods for sharing both candidate phenotype and genotype data between investigators. Sharing of data via Web-based anonymous data exchange servers will play an increasingly important role toward more efficient identification of the molecular basis for rare Mendelian disorders. PMID:26220823

  12. Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

    PubMed

    Zahnleiter, Diana; Trautmann, Udo; Ekici, Arif B; Goehring, Ina; Reis, André; Dörr, Helmuth-Günther; Rauch, Anita; Thiel, Christian T

    2011-01-01

    We identified a maternally inherited 14.2Mb duplication 5q22.1-q23.2 in two female siblings and their mother by molecular karyotyping. Both siblings were small for gestational age and presented with pronounced postnatal growth retardation, mild motor delay, congenital heart disease in one of the siblings, and distinct facial dysmorphism. As this duplication is one of the smallest reported 5q duplications, short stature and facial dysmorphism can be attributed to duplications of 5q22, whereas severe mental retardation is not part of the phenotypic spectrum of the 5q22.1-q23.2 region. Congenital heart defects, as observed in other 5q duplications, have a variable penetrance. We compared the facial features of patients with 5q duplications and found some consistent features such as high arched eyebrows, bulbous nasal tip and small lips with thin vermilion border. PMID:21777705

  13. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

    PubMed

    Brown, Lindsay A; Rupps, Rosemarie; Peñaherrera, Maria S; Robinson, Wendy P; Patel, Millan S; Eydoux, Patrice; Boerkoel, Cornelius F

    2014-06-01

    Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. Both hypomethylation of the telomeric imprinting control region 1 (ICR1) at 11p15.5 and maternal duplication of 11p15.5 have been implicated in the etiology of this disorder. Here we report the origin and segregation of the first reported between-arm intrachromosomal insertion of 11p15.5 that encompasses both ICR1 and ICR2 in a multigenerational family with a history of short stature. One (or any odd number) crossover within the centromeric segment during meiosis would produce recombinant chromosomes; one with a duplication of the inserted segment and the other a deletion. In this 4-generation family, there were six instances of transmission of the recombinant chromosome with duplication of the11p15.5 segment, which leads to a SRS phenotype when maternally inherited and a Beckwith-Wiedemann phenotype when paternally transmitted. The size of the duplicated region is ~1.9 Mb as determined by microarray analysis. This study provides further evidence that maternally inherited duplications of 11p15.5 result in a SRS phenotype that includes short stature and other variable features. The methylation status of the extra copy of the duplicated region of 11p15.5 ultimately predicts the resulting phenotype. Thus, the different phenotype based on parental mode of transmission is of importance in the genetic counseling of these patients. PMID:24668696

  14. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

    PubMed Central

    Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, Peter E; McFarland, Robert; Hughes, Joanne; Crushell, Ellen; Taylor, Robert W

    2016-01-01

    Background Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to the correct genetic diagnosis. Methods Patients were analysed by whole-exome sequencing, targeted capture or candidate gene sequencing. Clinical phenotyping of affected individuals was performed. Results We identified a cohort of 10 patients from 8 families (7 families are of unrelated Irish ancestry) all of whom have short stature (<9th centile) and similar facial features including a prominent forehead, smooth philtrum and deep-set eyes associated with a recurrent homozygous c.64T>C, p.Trp22Arg NDUFB3 variant. Two sibs presented with primary short stature without obvious metabolic dysfunction. Analysis of skeletal muscle from three patients confirmed a defect in Complex I assembly. Conclusions Our report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. Recognition of the distinctive facial features—particularly when associated with markers of mitochondrial dysfunction and/or Irish ancestry—should suggest screening for the p.Trp22Arg NDUFB3 mutation to establish a genetic diagnosis, circumventing the requirement of muscle biopsy to direct genetic investigations. PMID:27091925

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

    PubMed Central

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

    2015-01-01

    Objective: 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. Methods: 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 <1 SD) at the end of the follow-up period. Results: The height of the patients improved from -3.16±0.46 SD score (SDS) to -1.9±0.66 SDS. At the end of the follow-up period, mean height SDS was -1.72. Eleven of the patients showed a good response to treatment. Clinical parameters were essentially similar in the good responders and the poor responders groups. A female preponderance was noted in the good responders group. Conclusion: rGH treatment can safely be used in ISS children. Long-term GH treatment will ameliorate the height deficit and almost 40% of patients may reach their target height. PMID:26777041

  16. Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature.

    PubMed

    Figueiredo, C C; Kochi, C; Longui, C A; Rocha, M N; Richeti, F; Evangelista, N M A; Calliari, L E P; Monte, O

    2008-01-01

    Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age. Sixty-four short-stature girls were selected and the clinical data obtained were birth weight and height, weight and height at the first medical visit and target height. Other clinical data including cardiac and renal abnormalities, otitis, Hashimoto thyroiditis, cubitus valgus, short neck, widely separated nipples, and pigmented nevi were obtained from the patients' medical records. The aim of the present study was to evaluate the screening of a group of short-stature girls for TS based on the number of CAG repeats of the androgen receptor gene analyzed by GeneScan software. Patient samples with two alleles (heterozygous) were 49/64 (76.5%) and with one allele (homozygous) were 15/64 (23.5%). A karyotype was determined in 30 patients, 9 homozygous and 21 heterozygous. In the homozygous group, 6/9 were 45,X and 3/9 were 46,XX. In the heterozygous group, 17/21 were 46,XX, and 4/21 were TS patients with mosaicism (45,X/46,XX; 45,X/46XiXq; 46XdelXp). The pattern obtained by GeneScan in two patients with mosaicism in the karyotype was an imbalance between the peak heights of the two alleles, suggesting that this imbalance could be present when there is a mosaicism. The frequency of TS abnormalities (18.7%) did not differ between TS and 46,XX girls. Thus, it is important to accurately assess the incidence of TS in growth-retarded girls, even in the absence of other dysmorphisms. In this study, we diagnosed 6 cases of TS 45,X (9.4%) by molecular analysis, with a 100% sensitivity and 85% specificity. This molecular analysis was able to

  17. Guidelines for the use of growth hormone in children with short stature. A report by the Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society.

    PubMed

    1995-12-01

    On the basis of the information currently available, the only conditions in which GH therapy appears to be safe and effective in increasing adult height are GH deficiency and, likely, Turner syndrome. Therapy with GH also increases the growth velocity of children with CRI and may increase adult height, but no long-term data are available. Encouraging short-term results have been reported in patients with a few other conditions, such as patients with glucocorticoid-induced growth failure, renal transplantation, and Prader-Willi syndrome, but the data are limited and no long-term studies have been reported; in many other conditions the data are either inconclusive or discouraging. For children in these latter groups, GH therapy should be considered investigational and undertaken only as part of ethically sound, controlled clinical trials. Knowledge concerning the conditions in which GH is safe and effective is a prerequisite to making rational decisions concerning its use. However, in deciding whether therapy is warranted in an individual child, one must consider other important factors. The age and emotional maturity of the child, the family structure and dynamics, and even financial considerations may, in some cases, outweigh the presence of a GH-responsive condition. Likewise, the child's and the family's views about "short" stature and the likely benefits of therapy must be considered. Ultimately, a decision concerning the appropriateness of GH therapy must be individualized and based on a realistic assessment of its impact on the quality of life of the child and future adult.

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

    SciTech Connect

    Spotila, L.D.; Sereda, L.; Prockop, D.J. )

    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.

  19. Higher central fat and poor self-body image in short-stature overweight/obese women living in Brazilian shantytowns

    PubMed Central

    Florêncio, Telma Toledo; Cavalcante, Fabiana Albuquerque; Lins, Isabela Lopes; Clemente, Ana Grotti; Sawaya, Ana Lydia

    2016-01-01

    Background Short stature in adult life, a possible consequence of poor perinatal conditions, is associated with higher risk of mortality and social disabilities. We aimed to determine whether low-income, overweight/obese, short-stature (SS) women show alterations in body composition, self-body-image perception, and biochemical profile compared to their non-short (NS) counterparts. Methods A cross-sectional study was conducted with women living in shantytowns and mother or relatives to undernourished children treated in a center for recuperation and nutritional education. Inclusion criteria were: (1) age, 19–45 years; (2) stature < 152.3 cm or > 158.7 cm; and (3) body mass index > 25 kg/m2. Socioeconomic, anthropometric, biochemical, and body image data were collected. We analyzed 56 SS and 57 NS women. Results The SS group showed a higher waist-to-height ratio (WHtR) (mean: 0.63; standard deviation: 0.06 for SS and mean: 0.60; standard deviation: 0.07 for the NS group; p = 0.02), and, in the adjusted analysis, showed lower fat-free mass (Estimated Marginal Mean for the SS group: 45.7 kg 95% confidence intervals (CI) (45.2–46.2) and for the NS group: 46.9 kg 95% CI (46.4–47.4); p < 0.01) and higher fat mass (Estimated Marginal Mean for the SS group: 32.5 95% CI (31.9–33.0) and for the NS group: 31.4 kg 95% CI (30.9–31.9); p < 0.01). Body mass index was a better predictor of current self-body-image perception for NS women. The SS coefficient values were β = 0.141, SE = 0.059, and R2-Nagelkerke = 0.107, and the NS coefficients values were β = 0.307, SE = 0.058, and R2-Nagelkerke = 0.491 (Z = 2.006; p < 0.05). Considering the obese subgroup, six out of 32 (18.8%) SS women and 14 out of 33 (42.4%) NS women perceived themselves as obese (χ2 = 4.27; p = 0.03). This difference remained significant even after adjustment by age, schooling, and number of children (p = 0.04). Only the total thyroxin showed significant differences between groups, lower in SS women

  20. Identification of factors associated with good response to growth hormone therapy in children with short stature: results from the ANSWER Program®

    PubMed Central

    2011-01-01

    Objective To identify factors associated with growth in children on growth hormone (GH) therapy using data from the American Norditropin Studies: Web-enabled Research (ANSWER) Program® registry. Methods GH-naïve children with GH deficiency, multiple pituitary hormone deficiency, idiopathic short stature, Turner syndrome, or a history of small for gestational age were eligible (N = 1,002). Using a longitudinal statistical approach, predictive factors were identified in patients with GHD for change from baseline in height standard deviation score (ΔHSDS) following 2 years of treatment. Results Gradual increases in ΔHSDS over time were observed for all diagnostic categories. Significant predictive factors of ΔHSDS, ranked by significance were: height velocity (HV) at 4 months > baseline age > baseline HSDS > baseline body mass index (BMI) SDS > baseline insulin-like growth factor I (IGF-I) SDS; gender was not significant. HV at 4 months and baseline BMI SDS were positively correlated, whereas baseline age, HSDS, and IGF-I SDS were negatively correlated with ΔHSDS. Conclusions These results may help guide GH therapy based on pretreatment characteristics and early growth response. PMID:21899782

  1. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

    PubMed

    Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

    2015-11-01

    Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients. PMID:26178382

  2. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.

    PubMed

    Shrimpton, A E; Daly, K M; Hoo, J J

    1999-05-28

    Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initiated, it was realized that the two families were actually related to each other. Over 50 polymorphic markers of known locations along the X chromosome were scored in this family in a study to map the disease gene. Nine affected and four unaffected males were genotyped to produce a maximum LOD score of 4.42 at zero recombination with markers in proximal Xq. The results indicate that the gene responsible for this disorder is located in the cytogenetic Xq12 to Xq21.31 interval of the X chromosome within a section of chromosome of about 17 cM between the AR and DXS1217 loci over some 25 mb. Since the gene for the X-linked mental retardation from the original Saskatchewan family described by Renpenning [Renpenning et al., 1962: Can Med Assoc J 87:954-956; Fox and Gerrard, 1980: Am J Med Genet 7:491-495] was recently mapped to a different nonoverlapping region [Stevenson et al., 1998: Am J Hum Genet 62:1092-1101] this would appear to be a separate disorder.

  3. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

    PubMed

    Van Esch, Hilde; Zanni, Ginevra; Holvoet, Maureen; Borghgraef, Martine; Chelly, Jamel; Fryns, Jean-Pierre; Devriendt, Koenraad

    2005-01-01

    X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with a syndromic form of XLMR, including mild mental retardation, short stature, microcephaly and hypogonadism. Two-point linkage analysis with 24 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 6 cM interval in Xp22.1-p21.3, with a maximum LOD score of 2.61 for markers DXS989 and DXS1061 at theta = 0.00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene.

  4. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    PubMed Central

    Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat‐Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernández‐Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano‐Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin‐Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric

    2015-01-01

    ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype–phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café‐au‐lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan‐like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1‐patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi‐exon deletion, providing genetic evidence that p.Arg1809Cys is a loss‐of‐function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients. PMID:26178382

  5. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

    PubMed

    Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

    2015-11-01

    Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients.

  6. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

    PubMed

    Fukami, Maki; Naiki, Yasuhiro; Muroya, Koji; Hamajima, Takashi; Soneda, Shun; Horikawa, Reiko; Jinno, Tomoko; Katsumi, Momori; Nakamura, Akie; Asakura, Yumi; Adachi, Masanori; Ogata, Tsutomu; Kanzaki, Susumu

    2015-09-01

    Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-number variations (CNVs) in PAR1 identified through copy-number analyzes of 245 ISS/LWD patients and 15 unaffected individuals. The six CNVs consisted of three microduplications encompassing SHOX and some of the CNEs, two microduplications in the SHOX 3'-region affecting one or four of the downstream CNEs, and a microdeletion involving SHOX exon 6b and its neighboring CNE. The amplified DNA fragments of two SHOX-containing duplications were detected at chromosomal regions adjacent to the original positions. The breakpoints of a SHOX-containing duplication resided within Alu repeats. A microduplication encompassing four downstream CNEs was identified in an unaffected father-daughter pair, whereas the other five CNVs were detected in ISS patients. These results suggest that microduplications involving SHOX cause ISS by disrupting the cis-regulatory machinery of this gene and that at least some of microduplications in PAR1 arise from Alu-mediated non-allelic homologous recombination. The pathogenicity of other rare PAR1-linked CNVs, such as CNE-containing microduplications and exon 6b-flanking microdeletions, merits further investigation.

  7. Relationship between vitamin D receptor (VDR) polymorphisms and the efficacy of recombinant human growth hormone (rhGH) treatment in children with idiopathic short stature.

    PubMed

    Wang, W; Luo, X P; Cai, L X; Cui, Z R; Luo, X Y; Luo, R K

    2015-01-01

    Polymorphisms in the vitamin D receptor (VDR) gene are associated with idiopathic short stature (ISS) in several countries. This study aimed to identify a possible correlation between polymorphisms in the VDR promoter in Chinese children with ISS and the efficacy of the recombinant human growth hormone (rhGH) treatment. Pre-pubertal children with ISS and healthy age- and gender-matched children (N = 95 each) were enrolled in this study. Two single nucleotide polymorphisms (SNPs) in the VDR promoter (rs11568820 at the Cdx-2-binding site upstream of exon 1e and rs4516035 at -1012 upstream of exon 1a) were typed. The growth velocity, standard deviation score (SDS) of height for chronological age, height SDS for bone age, predicted adult height, and serum insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) levels of the ISS patients were determined before and 6 months after rhGH treatment. No significant differences were observed in the genotype frequencies between the ISS cases and controls. After rhGH treatment, the growth velocity of the A/G genotype at the Cdx-2-binding site SNP locus was significantly higher than that of the G/G genotype; the IGF-1 and IGFBP-3 levels were also higher in the treated group than the untreated group. However, these changes were independent of the VDR-promoter genotype. Polymorphisms in the VDR promoter may not result in the pathogenesis of ISS in Chinese children. The A/G genotype showed a significantly higher growth velocity than the G/G genotype, and may represent a short-term marker of growth potential. PMID:26400282

  8. Investigation and management of tall stature.

    PubMed

    Davies, Justin H; Cheetham, Tim

    2014-08-01

    Referral for an assessment of tall stature is much less common than for short stature. Although the commonest cause is an underlying familial tendency to tallness, there are important disorders that should be considered at the initial assessment. Distinguishing these conditions from normal variations of growth is the key objective when managing the child and family. In some children, further targeted investigations will be needed and in rare instances intervention to limit final height may be appropriate. This article discusses a structured approach to the assessment and management of a child with tall stature. PMID:24833789

  9. Investigation and management of tall stature.

    PubMed

    Davies, Justin H; Cheetham, Tim

    2014-08-01

    Referral for an assessment of tall stature is much less common than for short stature. Although the commonest cause is an underlying familial tendency to tallness, there are important disorders that should be considered at the initial assessment. Distinguishing these conditions from normal variations of growth is the key objective when managing the child and family. In some children, further targeted investigations will be needed and in rare instances intervention to limit final height may be appropriate. This article discusses a structured approach to the assessment and management of a child with tall stature.

  10. A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

    PubMed Central

    Kerns, Sarah L.; Andrew, Shayne; Geng, Juan; Guevara, Carolina; Guevara-Aguirre, Marco; Guo, Michael; Oddoux, Carole; Shen, Yiping; Zurita, Andres; Rosenfeld, Ron G.; Ostrer, Harry; Hwa, Vivian

    2014-01-01

    Context: CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular proliferation, is paternally imprinted and has been shown to regulate β-cell proliferation. CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome. Objective: To investigate the genetic basis for a familial disorder characterized by intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. Design, Setting, and Participants: Genomic DNA samples (15 affected and 26 unaffected from a six-generation pedigree) were analyzed by genome-wide single nucleotide polymorphism arrays, whole exome and Sanger sequencing, and multiplex ligation-dependent probe amplification. Main Outcome Measure(s): Subjects were assessed for height, weight, adrenal gland size, ACTH, diabetes status, and testis volume. Linkage and sequence analyses were performed, and the identified genetic variant was functionally evaluated in reconstitution studies. Results: The pedigree followed a paternally imprinted pattern of inheritance, and genetic linkage analysis identified a single significant 2.6-megabase locus on chromosome 11p15, within the imprinting center region 2. Multiplex ligation-dependent probe amplification did not detect copy number variants or methylation abnormalities. Whole exome sequencing revealed a single novel variant in the proliferating cell nuclear antigen-binding region of CDKN1C (c.842G>T, p.R281I) that co-segregated with affected status and, unlike variants found in IMAGe, did not entirely abrogate proliferating cell nuclear antigen binding. Clinical assessments revealed that affected individuals had low testicular volume but normal adrenal function. Conclusions: We report a novel CDKN1C mutation associated with features of IMAGe syndrome, but without adrenal insufficiency or metaphyseal dysplasia, and characterized by early-adulthood-onset diabetes. Our data expand the range of phenotypes observed with CDKN1

  11. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

    PubMed Central

    Kernohan, Kristin D.; Tétreault, Martine; Liwak-Muir, Urszula; Geraghty, Michael T.; Qin, Wen; Venkateswaran, Sunita; Davila, Jorge; Holcik, Martin; Majewski, Jacek; Richer, Julie; Boycott, Kym M.

    2015-01-01

    Protein translation is an essential cellular process initiated by the association of a methionyl–tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex. This process is regulated by the phosphorylation status of the α subunit of eIF2 (eIF2α); phosphorylated eIF2α attenuates protein translation. Here, we report a consanguineous family with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings. Whole-exome sequencing identified a homozygous missense mutation, c.1972G>A; p.Arg658Cys, in protein phosphatase 1, regulatory subunit 15b (PPP1R15B), a protein which functions with the PPP1C phosphatase to maintain dephosphorylated eIF2α in unstressed cells. The p.R658C PPP1R15B mutation is located within the PPP1C binding site. We show that patient cells have greatly diminished levels of PPP1R15B–PPP1C interaction, which results in increased eIF2α phosphorylation and resistance to cellular stress. Finally, we find that patient cells have elevated levels of PPP1R15B mRNA and protein, suggesting activation of a compensatory program aimed at restoring cellular homeostasis which is ineffective due to PPP1R15B alteration. PPP1R15B now joins the expanding list of translation-associated proteins which when mutated cause rare genetic diseases. PMID:26307080

  12. Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

    PubMed Central

    de Fátima Borges, Maria; Teixeira, Flávia Carolina Cândida; Feltrin, Aline Karin; Ribeiro, Karina Alvarenga; Nascentes, Gabriel Antonio Nogueira; Resende, Elisabete Aparecida Mantovani Rodrigues; Ferreira, Beatriz Pires; Silva, Adriana Paula; Palhares, Heloísa Marcelina Cunha

    2016-01-01

    OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional status and pubertal stage. METHODS: A total of 225 tests were performed in 3 patient groups, categorized as group 1 (normal), group 2 (idiopathic short stature) and group 3 (growth hormone deficiency). Among the 199 disease-free individuals, 138 were prepubertal, and 61 were pubertal. Clonidine (0.1 mg/m2) was orally administered, and the growth hormone level was measured by immunochemiluminescent assay. The growth hormone peak and the difference between the growth hormone peak and the baseline level were then analyzed. Statistical analyses were performed using Student's t-test or the Mann-Whitney test and Kruskal-Wallis test followed by Dunn's post hoc test. Cut-off values were determined using a receiver operating characteristic curve. RESULTS: Group 1 and group 2 had no difference in growth hormone peak, gender, body mass index standard deviation score, or pubertal stage. Group 3 exhibited a significantly lower growth hormone peak than the other groups did. The receiver operating characteristic curve demonstrated that growth hormone concentrations ≥ 3.0 ng/mL defined responsiveness to clonidine. In total, 3.02% of individuals in group 1 and group 2 were considered false positive, i.e., these children lacked growth hormone deficiency and had a peak below 3.0 ng/mL. CONCLUSION: Clonidine-stimulated growth hormone concentrations ≥3 ng/mL, as measured by immunochemiluminescent assay, suggest responsiveness to the stimulus regardless of gender, body mass index standard deviation score or pubertal stage. PMID:27166774

  13. Personality functioning: the influence of stature

    PubMed Central

    Ulph, F; Betts, P; Mulligan, J; Stratford, R

    2004-01-01

    Background: The Wessex Growth Study has monitored the psychological development of a large cohort of short normal and average height control participants since school entry. Aims: To examine the effect of stature on their personality functioning now that they are aged 18–20 years. Methods: This report contains data from 48 short normal and 66 control participants. Mean height SD score at recruitment was: short normals -2.62 SD, controls -0.22 SD. Final height SD score was: short normals -1.86, controls 0.07. The Adolescent to Adult Personality Functioning Assessment (ADAPFA) measures functioning in six domains: education and employment, love relationships, friendships, coping, social contacts, and negotiations. Results: No significant effect of recruitment height or final height was found on total ADAPFA score or on any of the domain scores. Socioeconomic status significantly affected total score, employment and education, and coping domain scores. Gender had a significant effect on total score, love relationships, coping, and social contacts domain scores. Salient aspects of daily living for this sample were identified from the interviews (prevalence%): consuming alcohol (94%), further education (63%), love relationships (55%), current drug use (29%), experience of violence (28%), parenthood (11%), and unemployment (9%). Stature was not significantly related to behaviour in any of these areas. Conclusions: Despite previously reported links between short stature and poorer psychosocial adaptation, no evidence was found that stature per se significantly affected the functioning of the participants in these areas as young adults. PMID:14709494

  14. Short stature associated with high circulating insulin-like growth factor (IGF)-binding protein-1 and low circulating IGF-II: effect of growth hormone therapy.

    PubMed

    Barreca, A; Bozzola, M; Cesarone, A; Steenbergh, P H; Holthuizen, P E; Severi, F; Giordano, G; Minuto, F

    1998-10-01

    We report a case of short stature associated with high circulating levels of insulin-like growth factor (IGF)-binding protein-1 (IGFBP-10 and low levels of IGF-II responsive to pharmacological treatment with GH. Our patient suffered severe growth failure from birth (2.06 SD below the mean for normal full-term boys, and 5.2 and 7.3 SD below the mean at 5 and 10 months). Studies carried out before referral to our pediatric unit included normal 46,XY karyotype and normal encephalic imaging. Other endocrine and metabolic alterations and other systemic diseases were excluded. At 1.7 yr of age (length, 6.1 SD; weight, 4.6 SD; head circumference, 1.4 SD below the mean, respectively) the patient was referred to our pediatric unit. The baseline GH concentration was 31 microg/L, and the peak after an arginine load was 59.6 microg/L. In the same samples GH bioactivity was nearly superimposable (RIA/Nb2 bioactivity ratio = 0.9). Fasting insulin and glucose concentrations were 7.4 microU/mL and 65 mg/dL, respectively, both normally responsive to an oral glucose load. GH insensitivity was excluded by a basal IGF-I concentration (64 ng/mL) in the normal range for 0- to 5-yr-old boys and its increase after 2 IU/day hGH administration for 4 days. IGFBP-3 (0.5 microg/mL) was slightly reduced, whereas IGFBP-1 (2218 and 1515 ng/mL in two different basal samples) was well above the normal values for age and was suppressible by GH (maximum suppression, -77% at 84 h) and glucose load (maximum suppression, -46% at 150 min). The basal IGF-II concentration was below the normal range (86 ng/mL), whereas IGFBP-2 was normal (258 ng/mL). Analysis of the promoter region of IGFBP-1 and IGF-II failed to find major alterations. Neutral gel filtration of serum showed that almost all IGF-I activity was in the 35- to 45-kDa complex, coincident with IGFBP-1 peak, while the 150-kDa complex was absent, although the acid-labile subunit was normally represented. At 2.86 yr (height, 65.8 cm; height SD score

  15. Homoarginine (hArg) and asymmetric dimethylarginine (ADMA) in short stature children without and with growth hormone deficiency: hArg and ADMA are involved differently in growth in the childhood.

    PubMed

    Langen, Jennifer; Kayacelebi, Arslan Arinc; Beckmann, Bibiana; Weigt-Usinger, Katharina; Carmann, Christina; Hörster, Irina; Lilienthal, Eggert; Richter-Unruh, Annette; Tsikas, Dimitrios; Lücke, Thomas

    2015-09-01

    Adult subjects with growth hormone (GH) deficiency (GHD) are known to have reduced life expectancy due to increased cardiovascular and cerebrovascular events. In adults, these events are associated with elevated circulating concentrations of asymmetric dimethylarginine (ADMA) which is an endogenous inhibitor of L-arginine (Arg)-derived nitric oxide (NO). Low circulating concentrations of homoarginine (hArg) emerged as a cardiovascular risk factor. In adults, hArg seems to antagonize ADMA. In the present work, we tested the hypothesis that children with short stature without or with GHD have altered Arg/NO pathway as compared to children with normal growth. We studied 66 short stature children (38 boys, 28 girls) aged 3.5-17.3 years, who underwent the routine L-Arginine Test to diagnose presence of GHD. GHD was confirmed in 47 children (GHD group; 30 boys, 17 girls) and was absent in the remaining 19 children (non-GHD group; 8 boys, 11 girls). In addition, we investigated 24 healthy age- and gender-matched children (10 boys, 14 girls) with normal growth. In EDTA plasma samples of all children, we determined by mass spectrometry-based methods the concentrations of Arg, hArg and ADMA, and calculated the Arg/ADMA and hArg/ADMA molar ratios. With respect to these biochemical parameters, we did not find statistically significant differences between the GHD and non-GHD groups. Comparing short with normal stature children, we found small differences regarding plasma hArg concentrations [mean ± SD; median (25th-75th percentile)]: 2.06 ± 0.52 µM; 2.12 (1.74-2.36) µM vs. 1.7 ± 0.5 µM; 1.6 (1.4-1.8) µM, P < 0.001. Compared to normal stature children, short stature children had considerably higher plasma concentrations of ADMA [0.77 ± 0.15 µM; 0.77 (0.66-0.85) µM vs. 0.57 ± 0.09 µM; 0.58 (0.50-0.63) µM, P < 0.001], but not of Arg [83.3 ± 19.2 µM; 82.2 (71.9-90.3) µM vs. 86.5 ± 17.8 µM; 84.8 (77.2-94.8) µM, P = 0.336], or the hArg/ADMA ratio [2.74 ± 0.76; 2

  16. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

    SciTech Connect

    Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H.; Schoonbrood-Lenssen, A.M.J.

    1994-07-15

    We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.

  17. Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene

    PubMed Central

    Oliveira, Carla R. P.; Salvatori, Roberto; Nóbrega, Luciana M. A.; Carvalho, Erick O. M.; Menezes, Menilson; Farias, Catarine T.; Britto, Allan V. O.; Pereira, Rossana M. C.; Aguiar-Oliveira, Manuel H.

    2008-01-01

    Summary Objective To assess the sizes of intra-abdominal organs of adult subjects with untreated severe congenital isolated GH deficiency (IGHD) due to lack of functional GHRH receptor (GHRH-R), and to verify whether there is proportionality between size of organ and adult stature and body surface area (BSA). Subjects and methods By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy. They were all homozygous for the same null mutation (IVS1 + 1G → A) in the GHRH receptor gene (GHRH-R). They were compared with normal controls from the same region. Results After correction for BSA, subjects lacking a functional GHRH-R have normal prostate and ovaries size, small spleen and uterus, and large liver, pancreas and kidney. Conclusions Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation. PMID:18034778

  18. Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice

    PubMed Central

    Lone, Anna Mari; Leidl, Mathias; McFedries, Amanda K.; Horner, James W.; Creemers, John; Saghatelian, Alan

    2014-01-01

    Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). HCS is characterized by a number of physiological changes including diminished growth and neonatal hypotonia or low muscle tone. HCS patients have deletions in other genes as well, making it difficult to tease apart the specific role of PREPL. Here, we develop a PREPL null (PREPL−/−) mouse model to address the physiological role of this enzyme. Deletion of exon 11 from the Prepl gene, which encodes key catalytic amino acids, leads to a loss of PREPL protein as well as lower Prepl mRNA levels. PREPL−/− mice have a pronounced growth phenotype, being significantly shorter and lighter than their wild type (PREPL+/+) counterparts. A righting assay revealed that PREPL−/− pups took significantly longer than PREPL+/+ pups to right themselves when placed on their backs. This deficit indicates that PREPL−/− mice suffer from neonatal hypotonia. According to these results, PREPL regulates growth and neonatal hypotonia in mice, which supports the idea that PREPL causes diminished growth and neonatal hypotonia in humans with HCS. These animals provide a valuable asset in deciphering the underlying biochemical, cellular and physiological pathways that link PREPL to HCS, and this may eventually lead to new insights in the treatment of this disease. PMID:24586561

  19. Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

    PubMed

    Frints, Suzanna G M; Jun, Lin; Fryns, Jean-Pierre; Devriendt, Koen; Teulingkx, Rudi; Van den Berghe, Lut; De Vos, Bernice; Borghgraef, Martine; Chelly, Jamel; Des Portes, Vincent; Van Bokhoven, Hans; Hamel, Ben; Ropers, Hans-Hilger; Kalscheuer, Vera; Raynaud, Martine; Moraine, Claude; Marynen, Peter; Froyen, Guy

    2003-06-15

    We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel "Nuclear RNA export factor" (NXF) gene cluster on Xq22.1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the NXF5 and its neighboring homologue, the NXF2 gene was performed in 45 men with various forms of syndromic X-linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the NXF5 gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the NXF2 gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that NXF5 is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended.

  20. Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5.

    SciTech Connect

    McElreavey, K.; Barbaux, S.; Vilain, E.

    1994-09-01

    Turner syndrome is a complex human phenotype, commonly associated with a 45,X karyotype. Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. In addition, attempts to map the genes involved to the X chromosome have failed to yield a consistent localisation. An alternative approach to map and identify Turner genes is to study XY individuals, with sex chromosome abnormalities, who present with or without characteristic Turner stigmata. We report the analysis of 4 individuals with terminal deletions of Yq. The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). Breakpoints in each of the cytogenetically detectable Yq deletions were mapped by Southern analysis and Y chromosome-specific sequence tagged sites (STS). Correlation between the patients phenotypes and the extent of their deletion indicate a critical region associated with specific Turner stigmata (cubitus valgus, shield chest, short fourth metacarpals) and growth retardation at Yq at proximal interval 5. These data provide evidence that the somatic features of the Turner syndrome are most likely caused by haploinsufficiency of genes at several loci.

  1. Stature is an essential predictor of muscle strength in children

    PubMed Central

    2012-01-01

    Background Children with growth retardation or short stature generally present with lower strength than children of the same chronological age. The aim of the study was to establish if strength was dependent on variables related to stature in a population of healthy children and to propose practical predictive models for the muscle functions tested. A secondary aim was to test for any learning effects concerning strength measured at two successive visits by children. Methods Hand grip, elbow flexion and extension, and knee flexion and extension were measured by fixed dynamometry in 96 healthy subjects (47 girls and 49 boys, aged from 5 to 17 years). Results For the present paediatric population, muscle strength was highly dependent on height. Predictive models are proposed for the muscle functions tested. No learning effect between the first and the second visit was detected for any of the muscle functions tested. Conclusions This work shows that strength measurements using fixed dynamometry are reliable in children when using appropriate standardization of operating procedures. It underlines the particular relationship between body stature and muscle strength. Predictive equations may help with assessing the neuromuscular involvement in children suffering from various disorders, particularly those affecting their stature. PMID:22989265

  2. Association between Adult Stature and Energy Expenditure in Low-Income Women from Northeastern Brazil

    PubMed Central

    Albuquerque, Fabiana Cristina Alves; Bueno, Nassib Bezerra; Clemente, Ana Paula Grotti; Ferriolli, Eduardo; Florêncio, Telma Maria Menezes Toledo; Hoffman, Daniel; Sawaya, Ana Lydia

    2015-01-01

    Background Perinatal undernutrition may lead to important metabolic adaptations in adult life, short stature being the most visible. The present study aimed to evaluate the association between stature and total energy expenditure of low-income women. Method Women aged 19–45 years from low-income communities in Maceió-AL were recruited. A sample of 67 volunteers was selected and divided into either short stature (≤152.4 cm; n = 34) or non-short stature (≥158.7 cm; n = 33) group. Data on socioeconomic status, anthropometric variables, and hormonal profiles was collected. Total energy expenditure and body composition were assessed by the doubly labeled water technique with multiple points over 14 days. In addition, physical activity levels were measured with triaxial accelerometers and dietary intake data were collected using three 24-hour food records. Results The mean subject age was 30.94 years. Women of short stature had lower body weight and lean body mass compared to non-short women, but there were no differences in thyroid hormone concentrations or daily energy intake between the two groups. Short-stature women showed lower total energy expenditure (P = 0.01) and a significantly higher physical activity level (P = 0.01) compared to non-short women. However, the difference in total energy expenditure was no longer significant after statistical adjustment for age, lean body mass, and triiodothyronine concentrations. Conclusion Women with short stature present the same energy intake, but lower total energy expenditure than non-short women, even with a higher physical activity level, which suggests that they are more prone to weight gain. PMID:26147672

  3. The allometry of metabolism and stature: worker fatigue and height in the Tanzanian labor market.

    PubMed

    Price, Gregory N

    2013-12-01

    If the positive wage-height correlation is at least partially biological in origin, one plausible pathway is the effect of stature on energy expenditure in individuals. If metabolism scales proportionately with stature, then relative to short individuals, taller individuals can produce more energy for a given work task. This also suggests that end-of-the-workday fatigue, or lack of energy, varies inversely with stature. We test this hypothesis with data from the 2004 Tanzanian Household Worker Survey in which workers report the extent of their fatigue at the end-of-the-workday. Ordinal latent variable parameter estimates reveal that relative to short workers, taller workers are less likely to report being tired at the end-of-the-workday. This suggests that the positive wage-height relationship also has a biological foundation whereby the energy requirements and metabolic costs associated with work effort/tasks are inversely related to stature.

  4. Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

    PubMed Central

    Wang, Yan; Peng, Wei; Guo, Hong-Yan; Li, Hui; Tian, Jie; Shi, Yu-Jing; Yang, Xiao; Yang, Yao; Zhang, Wan-Qiao; Liu, Xin; Liu, Guan-Nan; Deng, Tao; Sun, Yi-Min; Xing, Wan-li; Cheng, Jing; Feng, Zhi-Chun

    2016-01-01

    Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight neonates with hypotonia were eliminated according to exclusion criteria and 97 were confirmed using traditional detection methods. The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS). Among the 89 tested neonates, 25 potentially pathogenic variants in nine genes (RYR1, MECP2, MUT, CDKL5, MPZ, PMM2, MTM1, LAMA2 and DMPK) were identified in 22 patients. Six of these pathogenic variants were novel. Of the 186 neonates with hypotonia, we identified the genetic causes for 117 neonates by the traditional detection methods and targeted NGS, achieving a high solving rate of 62.9%. In addition, we found seven neonates with RETT syndrome carrying five mutations, thus expanding the mutation profiles in Chinese neonates with hypotonia. Our study highlights the utility of comprehensive molecular genetic testing, which provides the advantage of speed and diagnostic specificity without invasive procedures. PMID:27353517

  5. Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2

    SciTech Connect

    Saal, H.M.; Johnson, R.C.; Carr, A.G.; Samango-Sprouse, C.

    1996-12-30

    To our knowledge, only four previous cases of distal chromosome 2p deletions exist in the literature. We present a patient with minor facial anomalies who had a distal interstitial deletion of the short arm of chromosome 2, del(2)(p24.2p25.1). This patient had many features seen in other patients with distal 2p deletion including short stature, {open_quotes}rectangular{close_quotes} facies, microcephaly, hypotonia, and mental retardation. This patient also has sensorineural hearing loss which has been described in one other patient with a similar deletion. The N-myc oncogene has been mapped to 2p24. By fluorescence in situ hybridization using a cDNA probe for the N-myc oncogene, this patient was found to have a deletion of the N-myc oncogene. This confirms the previous map location for N-myc. 17 refs., 3 figs., 1 tab.

  6. Stature estimation in ancient Egyptians: a new technique based on anatomical reconstruction of stature.

    PubMed

    Raxter, Michelle H; Ruff, Christopher B; Azab, Ayman; Erfan, Moushira; Soliman, Muhammad; El-Sawaf, Aly

    2008-06-01

    Trotter and Gleser's (Trotter and Gleser: Am J Phys Anthropol 10 (1952) 469-514; Trotter and Gleser: Am J Phys Anthropol 16 (1958) 79-123) long bone formulae for US Blacks or derivations thereof (Robins and Shute: Hum Evol 1 (1986) 313-324) have been previously used to estimate the stature of ancient Egyptians. However, limb length to stature proportions differ between human populations; consequently, the most accurate mathematical stature estimates will be obtained when the population being examined is as similar as possible in proportions to the population used to create the equations. The purpose of this study was to create new stature regression formulae based on direct reconstructions of stature in ancient Egyptians and assess their accuracy in comparison to other stature estimation methods. We also compare Egyptian body proportions to those of modern American Blacks and Whites. Living stature estimates were derived using a revised Fully anatomical method (Raxter et al.: Am J Phys Anthropol 130 (2006) 374-384). Long bone stature regression equations were then derived for each sex. Our results confirm that, although ancient Egyptians are closer in body proportion to modern American Blacks than they are to American Whites, proportions in Blacks and Egyptians are not identical. The newly generated Egyptian-based stature regression formulae have standard errors of estimate of 1.9-4.2 cm. All mean directional differences are less than 0.4% compared to anatomically estimated stature, while results using previous formulae are more variable, with mean directional biases varying between 0.2% and 1.1%, tibial and radial estimates being the most biased. There is no evidence for significant variation in proportions among temporal or social groupings; thus, the new formulae may be broadly applicable to ancient Egyptian remains.

  7. Turner syndrome presented with tall stature due to overdosage of the SHOX gene

    PubMed Central

    Seo, Go Hun; Kang, Eungu; Cho, Ja Hyang; Lee, Beom Hee; Choi, Jin-Ho; Kim, Gu-Hwan; Seo, Eul-Ju

    2015-01-01

    Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2. PMID:26191517

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

    PubMed

    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.

  9. Objective Evaluation of Muscle Strength in Infants with Hypotonia and Muscle Weakness

    ERIC Educational Resources Information Center

    Reus, Linda; van Vlimmeren, Leo A.; Staal, J. Bart; Janssen, Anjo J. W. M.; Otten, Barto J.; Pelzer, Ben J.; Nijhuis-van der Sanden, Maria W. G.

    2013-01-01

    The clinical evaluation of an infant with motor delay, muscle weakness, and/or hypotonia would improve considerably if muscle strength could be measured objectively and normal reference values were available. The authors developed a method to measure muscle strength in infants and tested 81 typically developing infants, 6-36 months of age, and 17…

  10. [Central muscular hypotonia of early childhood (hypotonic form of infantile cerebral paralysis)].

    PubMed

    Lesny, I; Pazourkova, E; Proshkova, M; Nikolaidu, L

    1978-01-01

    A total of 64 children from 6 months to 2,5 years with a hypotonic syndrome were observed. Follow-up studies were performed twice: after 1--1,5 years and after 2--3 years. In most of the cases (52 patients) the hypotonic syndrome towards the age of 6 slowly regressed, up to its complete disappearance. In these cases other neurological syndromes could appear (dyskinetic, spastic, minimal brain dysfunction), in the structure of which cerebellar symptoms occupied an important place. The intellectual development of these children was subnormal. In a lesser part of the cases (12 patients) the indicated dynamics of hypotonia was not seen, or it increased, while the intellectual devleopment of the children was characterized by mental retardation. These cases were evaluated as desintegration of development. The practical significance of the study of hypotonia for the prognosis is discussed. PMID:716721

  11. Marked hypotonia in an infant of a mother with Devic disease.

    PubMed

    Zifman, Eyal; Litmanovitz, Ita; Segal, Gil; Regev, Rivka; Watemberg, Nathan

    2010-06-01

    A full-term female neonate was born with severe hypotonia and weakness. Her mother had been treated for neuromyelitis optica (Devic disease) for 6 years. Her previous son, born 10 years earlier and before she developed the disease, also had marked hypotonia that gradually improved over several weeks. A suspicion of neonatal myasthenia gravis arose, as a search of the literature revealed the occasional detection of anti-acetylcholine receptor antibodies in patients with Devic disease. A neostigmine test was mildly positive in the baby, but anti-acetylcholine receptor antibodies were elevated. Aquaporin 4 antibodies typical of neuromyelitis optica were not detected in the infant. Because of clinical deterioration, intravenous immunoglobulin was administered with substantial improvement. Anti-acetylcholine antibodies were markedly elevated in the mother's serum, although she showed no clinical signs of myasthenia gravis. It is very likely that her previous baby also had unrecognized transient myasthenia gravis. PMID:20028941

  12. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

    PubMed

    Steinrücke, Sofia; Lohmann, Katja; Domingo, Aloysius; Rolfs, Arndt; Bäumer, Tobias; Spiegler, Juliane; Hartmann, Corinna; Münchau, Alexander

    2016-10-01

    Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1). PMID:27668284

  13. The Genetic Architecture of Barley Plant Stature

    PubMed Central

    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

  14. The Genetic Architecture of Barley Plant Stature.

    PubMed

    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

  15. Cervical spine geometry in the automotive seated posture: variations with age, stature, and gender.

    PubMed

    Desantis Klinich, Kathleen; Ebert, Sheila M; Van Ee, Chris A; Flannagan, Carol A C; Prasad, Monica; Reed, Matthew P; Schneider, Lawrence W

    2004-11-01

    In the mid 1970s, UMTRI investigated the biomechanical properties of the head and neck using 180 "normal" adult subjects selected to fill eighteen subject groups based on age (young, mid-aged, older), gender, and stature (short, medium, and tall by gender). Lateral-view radiographs of the subjects' cervical spines and heads were taken with the subjects seated in a simulated automotive neutral posture, as well as with their necks in full-voluntary flexion and full-voluntary extension. Although the cervical spine and lower head geometry were previously measured manually and documented, new technologies have enabled computer digitization of the scanned x-ray images and a more comprehensive and detailed analysis of the variation in cervical spine and lower head geometry with subject age, stature, and gender. After scanning the radiographic images, 108 skeletal landmarks on the cervical vertebrae and 10 head landmarks were digitized. The resulting database of cervical spine and head geometry was used to study cervical spine curvature, vertebral dimensions, and head/neck orientation as functions of age, gender, and stature. The data were used to characterize neutral posture cervical spine curvatures using two methods: a curvature index and Bézier spline functions. Lateral-view vertebral dimensions were also calculated for each subject, and a cascading series of equations was developed to estimate vertebral size and shape for a selected age, stature, and gender. The orientation of the cervical spine was defined using a neck chord angle, where the neck chord was varied to use different anatomical landmarks and estimates of joint centers for the top and bottom of the neck chord. Results from the study have been incorporated into a MS-Access based software package that allows researchers and modelers to generate cervical spine geometries for occupants of a specified age, gender, and stature. The program allows selection of individual occupants from the database that meet

  16. Clinical dilemmas in evaluating the short child.

    PubMed

    Garganta, Melissa D; Bremer, Andrew A

    2014-08-01

    Concerns about a child's growth are one of the most common topics parents voice during general pediatric office visits and are a leading cause for referral to a pediatric endocrinologist. There are a variety of conditions that lead to short stature in children; however, in the absence of true pathology, idiopathic short stature and constitutional delay are the most frequent causes. This article reviews the general approach to evaluating the short child and clinical signs that should prompt further evaluation and referral. We also address the unique psychological issues that these children face and approaches to counseling families with a child with idiopathic short stature.

  17. Polymorphic Regions Affecting Human Height Also Control Stature in Cattle

    PubMed Central

    Pryce, Jennie E.; Hayes, Ben J.; Bolormaa, Sunduimijid; Goddard, Michael E.

    2011-01-01

    Orthologous positions of 55 genes associated with height in four human populations were located on the bovine genome. Single nucleotide polymorphisms close to eight of these genes were significantly associated with stature in cattle (Bos taurus and Bos indicus). This suggests that these genes may contribute to controlling stature across mammalian species. PMID:21212230

  18. Forensic anthropology casework-essential methodological considerations in stature estimation.

    PubMed

    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.

  19. Ancient-to-modern secular changes in Korean stature.

    PubMed

    Shin, Dong Hoon; Oh, Chang Seok; Kim, Yi-Suk; Hwang, Young-Il

    2012-03-01

    Statural growth in human populations is a sensitive indicator of socio-economic well-being, and improvements in socio-economic status are reflected in secular increases in adult height. In the present study, we investigated the statures of historical Korean societies to show how stature changed over time. Applying Fujii's equation, derived from modern Japanese, to the measurement of femora removed from 15th- to 19th-century Joseon tombs, the average heights of Korean adults during the Joseon dynasty were estimated to be 161.1 ± 5.6 cm and 148.9 ± 4.6 cm for males and females, respectively. Plotting statures for successive historical societies against time revealed that Korean heights remained relatively unchanged through to the end of the 19th century, a pattern that differs from that seen in many Western countries in which stature transiently decreases after the Middle Ages. In contrast, a sharp increase in Korean stature was observed at the beginning of the 20th century, similar to trends seen in other nations (although exact timing varies in different countries). There were no accompanying changes of stature sexual dimorphism. The data reported in this study reflect the unique historical experience of Korea; the relative isolation of Joseon society, the late onset of modernization (at the end of the 19th century), and the later occurrence of industrialization (during the 1960s). PMID:22270697

  20. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

    PubMed

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  1. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

    PubMed

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health.

  2. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

    PubMed Central

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent “leak” channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  3. [Progress on Individual Stature Estimation in Forensic Medicine].

    PubMed

    Wu, Rong-qi; Huang, Li-na; Chen, Xin

    2015-12-01

    Individual stature estimation is one of the most important contents of forensic anthropology. Currently, it has been used that the regression equations established by the data collected by direct measurement or radiological techniques in a certain group of limbs, irregular bones, and anatomic landmarks. Due to the impact of population mobility, human physical improvement, racial and geographic differences, estimation of individual stature should be a regular study. This paper reviews the different methods of stature estimation, briefly describes the advantages and disadvantages of each method, and prospects a new research direction.

  4. Predicting adult stature from metatarsal length in a Portuguese population.

    PubMed

    Cordeiro, Cristina; Muñoz-Barús, José I; Wasterlain, Sofia; Cunha, Eugénia; Vieira, Duarte N

    2009-12-15

    Stature can be considered one of the "big four" parameters to be ascertained within the biological profile in cases of forensic anthropology. However, the most reliable available methods for stature estimation require the preservation of the long bones, but since this is very often not the case, the development of alternative methods, based on distinct bones, is mandatory. Therefore, in the present work the reliability of the first two metatarsal bones in reconstructing stature is tested. The data consist of length measurements taken from the first two metatarsals removed from documented cadavers of known stature. The sample for this study consists of 220 metatarsals, namely 110 first metatarsals and 110 second metatarsals collected during the autopsies carried out in the National Institute of Legal Medicine in Portugal. The aim was to propose regression equations for the Portuguese population and test the formulae proposed by other authors to determine adult stature using metatarsal bones. We found that when estimating stature from measurement of the metatarsals, the best correlation was that obtained from the relationship with the maximum length of the 2nd metatarsal. The corresponding regression equation is as follows: S=790.041+11.689M2.

  5. Estimation of stature from static and dynamic footprints.

    PubMed

    Reel, Sarah; Rouse, Simon; Vernon, Wesley; Doherty, Patrick

    2012-06-10

    The ability to estimate accurately from known parameters is a fundamental aspect of science and is evident as an emerging approach in the area of footprints and stature estimation within the field of forensic identification. There are numerous foot dimensions that have been measured in the literature to predict stature with varying degrees of confidence but few studies have tried to link the strength of estimation to anatomical landmarks. Such an approach is utilised in this study which estimates stature from the right footprints of sixty one adult male and female UK participants. Static and dynamic footprints were taken from each volunteer using the 'inkless paper system'. The prints were digitised and twelve length, width and angle measurements were chosen for the analysis. The highest correlations with stature were shown to be the heel to fourth toe print for the static group of footprints (r=0.786, p<0.01), and the heel to fifth toe print in the dynamic footprints (r=0.858, p<0.01). Collinearity statistics suggest the heel to fifth toe print length measurement is independent and not influenced by any other variables in the estimation of stature for the dynamic prints. Linear regression equations for this measurement presented the smallest standard error of estimate (SEE) and highest shared variance (R(2)) of all included variables (SEE 4.16, R(2) 0.74). Our study discusses a potential anatomical explanation as to why the lateral border of the foot and hence the impression it makes upon a hard surface, is a more stable indicator in the estimation of stature. The investigation recommends the use of Calc_A4 and Calc_A5 length measurements when estimating stature from footprint impressions.

  6. Stature recovery after sitting on land and in water.

    PubMed

    Camilotti, Bárbara Maria; Rodacki, André L F; Israel, Vera Lúcia; Fowler, Neil E

    2009-12-01

    Back pain treatment in water has been commonly used although there is little evidence about its effects. One purported advantage for exercise is the reduced loading due to the buoyant force. The purpose of this study was to compare stature change, as a marker of spinal loading, after sitting in aquatic and dry land environments. Fourteen asymptomatic volunteers had their stature measured in a precision stadiometer, before and after a bout of physical activity and during a recovery period either sitting in water (head out of water immersion; HOWI) and sitting in a chair on land (SITT). Stature loss following exercise was as expected similar in both groups (SITT=89.2+/-5.4% and HOWI=86.5+/-8.1%; p=0.33). When stature recovery was compared between the water and land environments, HOWI (102.2+/-8.7%) showed greater recovery than SITT (86.5+/-6.3%) after 30 min (p<0.05). These results suggest that HOWI facilitated more rapid stature recovery through lower spinal loading and supports use of this technique to reduce spinal loading during recovery.

  7. Developing Korean-specific equations of stature estimation.

    PubMed

    Jeong, Yangseung; Jantz, Lee Meadows

    2016-03-01

    This study aims to develop Korean-specific equations for stature estimation and compare their performance to existing techniques. Due to a lack of appropriate reference samples in Korea, equations were generated using a hybrid method on 113 Korean unknown skeletons. In this approach, estimates using the anatomical method [1] were regarded as actual stature. Results revealed that new equations produced more accurate and precise estimates than previous techniques. In addition, due to consistent body proportions of Korean populations through time and space, new equations are applicable to Korean skeletons regardless of their temporal and geographic origins. For obtaining statures at death, particularly in a forensic context, an age correction factor, 0.0426 cm/year, should be applied.

  8. Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2

    SciTech Connect

    Thompson, D.B.; Ossowski, V.; Janssen, R.C.; Knowler, W.C.; Bogardus, C.

    1995-12-04

    Sib-pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3. cM region that includes D20S98 and D20S66. Using all possible sib-pair combinations, linkage was detected to both stature (P = 0.0001) and to leg length (P = 0.001), but not to sitting height. Single-strand conformational polymorphism analysis of exon 3 of the bone morphogenetic protein 2 (BMP2) gene, a candidate gene in this region, in genomic DNA of 20 of the tallest and 20 of the shortest individuals did not show any consistent differences associated with leg length or height. Sequence analysis of the region encoding the mature protein revealed a single nucleotide substitution, a T to G transversion, not detected by single-strand conformational polymorphism (SSCP) analysis. This transversion results in a conservative amino acid substitution of glycine for valine at codon 80 of BMP2. The frequency of this allele was 0.23 in the sample. No significant differences in height were noted in persons carrying either allele. This indicates that this structural alteration in the mature BMP2 protein does not contribute to the differences in stature observed in the Pima Indians, nor is this structural change in the mature protein likely to be responsible for the linkage observed with stature on chromosome 20. 33 refs., 2 figs., 2 tabs.

  9. Stature estimation from craniofacial anthropometry in Bangladeshi Garo adult females.

    PubMed

    Akhter, Z; Banu, L A; Alam, M M; Rahman, M F

    2012-07-01

    Estimation of stature is an important tool in forensic examination especially in unknown, highly decomposed, fragmentary and mutilated human remains. When the evidences are skeletal remains; forensic anthropology has put forward means to estimate the stature from the skeletal and even from fragmentary bones. Sometimes, craniofacial remains are brought in for forensic and postmortem examination. In such a situation, estimation of stature becomes equally important along with other parameters like age, sex, race, etc. Today, anthropometry plays an important role in industrial design, clothing design, ergonomics and architecture where statistical data about the distribution of body dimensions in the population are used to optimize products. It is well established that a single standard of craniofacial aesthetics is not appropriate for application to diverse racial and ethnic groups. Bangladesh is a country not only for the Bengalis; the country harbours many cultures and people of different races because of the colonial rules of the past regimes. Like other ethnic groups, the Garos (study subjects) have their own set of language, social structure, cultures and economic activities and religious values. In the above context, the present study was attempted to establish ethnic specific anthropometric data for the Bangladeshi Garo adult females. The study also attempted to find out the correlation of the craniofacial dimensions with stature and to determine multiplication factors. The study was an observational, cross-sectional and primarily descriptive in nature with some analytical components. The study was carried out with a total number of one hundred Garo adult females, aged between 25-45 years. Craniofacial dimension such as head circumference, head length, facial height from 'nasion' to 'gnathion', bizygomatic breadth and stature were measured using a measuring tape, spreading caliper, steel plate and steel tape and sliding caliper. The data were then statistically

  10. Femoral lengths and stature in Plio-Pleistocene hominids.

    PubMed

    McHenry, H M

    1991-06-01

    This study reports the femoral lengths of 31 Plio-Pleistocene hominids dated between 3.1 and 0.7 million years ago, and uses those lengths to estimate stature by way of the femur-stature ratio reported by Feldesman et al. (Am. J. Phys. Anthropol. 78:219-220, 1989). By this method the average female Australopithecus afarensis is 105 cm and the average male is 151 cm. The respective values are 115 and 138 cm for A. africanus. As defined by Howell (In VJ Maglio and HBS Cooke (eds): The Evolution of African Mammals. Cambridge: Harvard University Press, 1978) and Johanson et al. (Kirtlandia 28:1-14, 1978), Homo habilis is a sexually dimorphic species, with females standing 118 cm and males 157 cm. Such apparently strong dimorphism may be due to the possibility that there are actually two species of nonrobust hominids between 2 and 1.7 m.y.a. The estimate for the female Australopithecus boisei is 124 cm and for the male, 137 cm, but these estimates are especially difficult to be certain of because there are no femora that can be positively identified as male A. boisei. Australopithecus robustus is estimated to be 110 cm (female) and 132 cm (male). African Homo erectus stood 160 cm (female) and 180 cm (male). From these estimates several generalizations are apparent. First, there is apparently strong sexual dimorphism in stature in A. afarensis and H. habilis, but less in the other species. Second, the "robust" australopithecines were relatively small statured. Third, it is apparently not true that humans have been getting progressively taller throughout their evolutionary history. Some individuals were as tall as modern humans 3 m.y.a., by 2 m.y.a. one individual stood about 173 cm, and by 1.7 m.y.a. a stature of 180+ cm was not uncommon. PMID:1882979

  11. Encephalopathy and Hypotonia due to Baclofen Toxicity in a Patient with End-Stage Renal Disease

    PubMed Central

    Ijaz, Mohsin; Tariq, Hassan; Kashif, Muhammad; Marquez, Jose Gomez

    2015-01-01

    Patient: Female, 57 Final Diagnosis: Baclofen toxicity Symptoms: Encephalopathy • hypotonia Medication: Baclofen Clinical Procedure: Hemodialysis Specialty: Critical Care Objective: Unusual or unexpected effect of treatment Background: Baclofen is a centrally acting gamma-aminobutyric acid agonist used for the symptomatic relief of skeletal muscle spasm and spasticity in traumatic spinal cord lesions, multiple sclerosis, cerebral palsy, and stroke. It is also used in the treatment of chronic hiccups and cocaine abuse. Baclofen-induced central nervous system depression is rare at the usual therapeutic doses. However, patients with impaired renal function are at a higher risk of developing baclofen toxicity, even at a lower dose. Case Report: A 57-year-old woman with end-stage renal disease on hemodialysis was admitted to our emergency department with progressive confusion and a generalized decrease in muscular tone. There was no obvious metabolic or infectious etiology that could have explained her condition. A comprehensive laboratory and imaging workup was negative. A review of her medication showed that she had recently been prescribed baclofen for muscular spasm. She was diagnosed with baclofen toxicity and was treated with emergent hemodialysis, which improved her mental status and her decreased muscle tone. Repeated sessions of hemodialysis administered on her second and third days of admission ultimately produced sustained clinical improvement and a complete return to her baseline mental status. She was subsequently discharged home with instructions to stay off baclofen. Conclusions: Baclofen toxicity is an under-diagnosed condition, especially in patients with renal dysfunction. Physicians should consider baclofen toxicity in patients with suboptimal kidney function on baclofen who present with altered mental status. Emergent hemodialysis and intensive care unit monitoring is recommended. PMID:25895118

  12. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

    PubMed

    Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; Nakamura, Kazuyuki; Santoni, Federico A; Miyatake, Satoko; Nakashima, Mitsuko; Issa, Mahmoud Y; Guipponi, Michel; Letourneau, Audrey; Logan, Clare V; Roberts, Nicola; Parry, David A; Johnson, Colin A; Matsumoto, Naomichi; Hamamy, Hanan; Sheridan, Eamonn; Kinoshita, Taroh; Antonarakis, Stylianos E; Murakami, Yoshiko

    2016-04-01

    Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the decreased surface expression of GPI-APs or by structural abnormalities of GPI. Here, we present five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seizures. We identified pathogenic variants in PIGG, a gene in the GPI pathway. In the consanguineous families, homozygous variants c.928C>T (p.Gln310(∗)) and c.2261+1G>C were found, whereas the Japanese individual was compound heterozygous for c.2005C>T (p.Arg669Cys) and a 2.4 Mb deletion involving PIGG. PIGG is the enzyme that modifies the second mannose with ethanolamine phosphate, which is removed soon after GPI is attached to the protein. Physiological significance of this transient modification has been unclear. Using B lymphoblasts from affected individuals of the Egyptian and Japanese families, we revealed that PIGG activity was almost completely abolished; however, the GPI-APs had normal surface levels and normal structure, indicating that the pathogenesis of PIGG deficiency is not yet fully understood. The discovery of pathogenic variants in PIGG expands the spectrum of IGDs and further enhances our understanding of this etiopathogenic class of intellectual disability. PMID:26996948

  13. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

    PubMed Central

    Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S.; Saitsu, Hirotomo; Nakamura, Kazuyuki; Santoni, Federico A.; Miyatake, Satoko; Nakashima, Mitsuko; Issa, Mahmoud Y.; Guipponi, Michel; Letourneau, Audrey; Logan, Clare V.; Roberts, Nicola; Parry, David A.; Johnson, Colin A.; Matsumoto, Naomichi; Hamamy, Hanan; Sheridan, Eamonn; Kinoshita, Taroh; Antonarakis, Stylianos E.; Murakami, Yoshiko

    2016-01-01

    Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the decreased surface expression of GPI-APs or by structural abnormalities of GPI. Here, we present five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seizures. We identified pathogenic variants in PIGG, a gene in the GPI pathway. In the consanguineous families, homozygous variants c.928C>T (p.Gln310∗) and c.2261+1G>C were found, whereas the Japanese individual was compound heterozygous for c.2005C>T (p.Arg669Cys) and a 2.4 Mb deletion involving PIGG. PIGG is the enzyme that modifies the second mannose with ethanolamine phosphate, which is removed soon after GPI is attached to the protein. Physiological significance of this transient modification has been unclear. Using B lymphoblasts from affected individuals of the Egyptian and Japanese families, we revealed that PIGG activity was almost completely abolished; however, the GPI-APs had normal surface levels and normal structure, indicating that the pathogenesis of PIGG deficiency is not yet fully understood. The discovery of pathogenic variants in PIGG expands the spectrum of IGDs and further enhances our understanding of this etiopathogenic class of intellectual disability. PMID:26996948

  14. XYY syndrome: a 13-year-old boy with tall stature.

    PubMed

    Jo, Won Ha; Jung, Mo Kyung; Kim, Ki Eun; Chae, Hyun Wook; Kim, Duk Hee; Kwon, Ah Reum; Kim, Ho-Seong

    2015-09-01

    When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.

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

    PubMed

    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, p<0.05) and the presence of two Maya surnames in children increased the odds of short stature and stunting. Children from lower income families had twice the odds of being stunted and obese. 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

  16. Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth.

    PubMed

    Bertelloni, Silvano; Baroncelli, Giampiero I; Massart, Francesco; Toschi, Benedetta

    2015-01-01

    45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism.

  17. Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth.

    PubMed

    Bertelloni, Silvano; Baroncelli, Giampiero I; Massart, Francesco; Toschi, Benedetta

    2015-01-01

    45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism. PMID:26529521

  18. Estimation of stature using hand and foot dimensions in Slovak adults.

    PubMed

    Uhrová, Petra; Beňuš, Radoslav; Masnicová, Soňa; Obertová, Zuzana; Kramárová, Daniela; Kyselicová, Klaudia; Dörnhöferová, Michaela; Bodoriková, Silvia; Neščáková, Eva

    2015-03-01

    Hand and foot dimensions used for stature estimation help to formulate a biological profile in the process of personal identification. Morphological variability of hands and feet shows the importance of generating population-specific equations to estimate stature. The stature, hand length, hand breadth, foot length and foot breadth of 250 young Slovak males and females, aged 18-24 years, were measured according to standard anthropometric procedures. The data were statistically analyzed using independent t-test for sex and bilateral differences. Pearson correlation coefficient was used for assessing relationship between stature and hand/foot parameters, and subsequently linear regression analysis was used to estimate stature. The results revealed significant sex differences in hand and foot dimensions as well as in stature (p<0.05). There was a positive and statistically significant correlation between stature and all measurements in both sexes (p<0.01). The highest correlation coefficient was found for foot length in males (r=0.71) as well as in females (r=0.63). Regression equations were computed separately for each sex. The accuracy of stature prediction ranged from ±4.6 to ±6.1cm. The results of this study indicate that hand and foot dimension can be used to estimate stature for Slovak for the purpose of forensic field. The regression equations can be of use for stature estimation particularly in cases of dismembered bodies. PMID:25459368

  19. Estimation of stature using hand and foot dimensions in Slovak adults.

    PubMed

    Uhrová, Petra; Beňuš, Radoslav; Masnicová, Soňa; Obertová, Zuzana; Kramárová, Daniela; Kyselicová, Klaudia; Dörnhöferová, Michaela; Bodoriková, Silvia; Neščáková, Eva

    2015-03-01

    Hand and foot dimensions used for stature estimation help to formulate a biological profile in the process of personal identification. Morphological variability of hands and feet shows the importance of generating population-specific equations to estimate stature. The stature, hand length, hand breadth, foot length and foot breadth of 250 young Slovak males and females, aged 18-24 years, were measured according to standard anthropometric procedures. The data were statistically analyzed using independent t-test for sex and bilateral differences. Pearson correlation coefficient was used for assessing relationship between stature and hand/foot parameters, and subsequently linear regression analysis was used to estimate stature. The results revealed significant sex differences in hand and foot dimensions as well as in stature (p<0.05). There was a positive and statistically significant correlation between stature and all measurements in both sexes (p<0.01). The highest correlation coefficient was found for foot length in males (r=0.71) as well as in females (r=0.63). Regression equations were computed separately for each sex. The accuracy of stature prediction ranged from ±4.6 to ±6.1cm. The results of this study indicate that hand and foot dimension can be used to estimate stature for Slovak for the purpose of forensic field. The regression equations can be of use for stature estimation particularly in cases of dismembered bodies.

  20. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

    PubMed

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy.

  1. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

    PubMed

    Al-Sayed, Moeenaldeen D; Al-Zaidan, Hamad; Albakheet, Albandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik

    2013-10-01

    Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport across neuronal membranes and controls neuronal excitability. Although NALCN variants have been conflictingly reported to be in linkage disequilibrium with schizophrenia and bipolar disorder, to our knowledge, no mutations have been reported to date for any inherited disorders. Using linkage, SNP-based homozygosity mapping, targeted sequencing, and confirmatory exome sequencing, we identified two mutations, one missense and one nonsense, in NALCN in two unrelated families. The mutations cause an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. Furthermore, one of the families pursued preimplantation genetic diagnosis on the basis of the results from this study, and the mother recently delivered healthy twins, a boy and a girl, with no symptoms of hypotonia, which was present in all the affected children at birth. Hence, the two families we describe here represent instances of loss of function in human NALCN. PMID:24075186

  2. Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    PubMed Central

    Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada

    2016-01-01

    Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients’ mutations suggest a genotype–phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. PMID:26394714

  3. Biological Conditions and Economic Development: Nineteenth-Century Stature on the U.S. Great Plains.

    PubMed

    Carson, Scott Alan

    2015-06-01

    Average stature is now a well-accepted measure of material and economic well-being in development studies when traditional measures are sparse or unreliable, but little work has been done on the biological conditions for individuals on the nineteenth-century U.S. Great Plains. Records of 14,427 inmates from the Nebraska state prison are used to examine the relationship between stature and economic conditions. Statures of both black and white prisoners in Nebraska increased through time, indicating that biological conditions improved as Nebraska's output market and agricultural sectors developed. The effect of rural environments on stature is illustrated by the fact that farm laborers were taller than common laborers. Urbanization and industrialization had significant impacts on stature, and proximity to trade routes and waterways was inversely related to stature. PMID:26040245

  4. A test of three methods for estimating stature from immature skeletal remains using long bone lengths.

    PubMed

    Cardoso, Hugo F V

    2009-01-01

    In this study, the accuracy of three methods for stature estimation of children from long bone lengths was investigated. The sample utilized consists of nine identified immature skeletons (seven males and two females) of known cadaver length, aged between 1 and 14 years old. Results show that stature (cadaver length) is consistently underestimated by all three methods (from a minimum of 2.9 cm to a maximum of 19.3 cm). The femur/stature ratio provided the least accurate estimates of stature, and predictions were not significantly improved by the other two methods. Differences between true and estimated stature were also greatest when using the length of lower limb bones. Given that the study sample children grew in less than optimal environmental conditions, compared with the children that contributed to the development of the methods, they are stunted and have proportionally shorter legs. This suggests that stature estimation methods are not universally applicable and that environmental differences within a population (e.g., socioeconomic status differences) or differing levels of modernization and social and economic development between nations are an important source of variation in stature and body proportions of children. The fallibility of stature estimation methods, when they do not consider such variation, can be somewhat minimized if stature is estimated from the length of upper limb bones.

  5. Estimation of stature from index and ring finger length in a North Indian adolescent population.

    PubMed

    Krishan, Kewal; Kanchan, Tanuj; Asha, Ningthoukhongjam

    2012-07-01

    The identification of commingled mutilated remains is a challenge to forensic experts and hence, a need of studies on estimation of stature from various body parts in different population groups. Such studies can help in narrowing down the pool of possible victim matches in cases of identification from dismembered remains. Studies pertaining to stature estimation among adolescents are limited owing to the ongoing growth process and growth spurt during adolescent period. In view of the limited literature on the estimation of stature in adolescent group, the present preliminary research was taken up to report the correlation between index and ring finger length and stature in a North Indian adolescent population. Three anthropometric measurements; Stature, Index finger length (IFL) and ring finger length (RFL) were taken on the subjects included in the study. Mean stature, IFL and RFL were significantly larger in males than females. Statistically significant correlation was observed between stature, IFL and RFL in right and left hands. Pearson correlation (r) was higher among males than females. Among males and females correlation coefficient was higher for the IFL than the RFL. The present research derives the linear regression models and multiplication factors for estimating stature from IFL and RFL and concludes that the living stature can be predicted from the IFL and RFL with a reasonable accuracy in adolescent population of North India.

  6. Validity of Carrea's index in stature estimation among two racial populations in India

    PubMed Central

    Anita, P.; Madankumar, P. D.; Sivasamy, Shyam; Balan, I. Nanda

    2016-01-01

    Background: Stature is considered to be one of the “big fours” in forensic anthropology. Though Carrea's Index was published as early as 1920 it has not been validated in any other population apart from the Brazilians. Aim: The present study was conducted to validate Carrea's index in stature estimation in two different racial populations in India. Materials and Methods: The study was carried out in a sample of 100 persons comprising of 25 Aryan males, 25 Aryan females, 25 Dravidian males, and 25 Dravidian females in the age group of 18–30 years. The maximum and minimum stature of all individuals was estimated by Carrea's Index. The actual stature was measured by an anthropometer. The estimated stature was compared with the actual stature and percentage of success was calculated. Results: The Carrea's Index was found to be valid in predicting the stature of 80% Dravidian and 84% Aryan males, the difference being statistically insignificant (Fisher Exact test–0.16; P = 0.99). The stature of 76% of females in both Aryan and Dravidian races was successfully predicted by Carrea's index. Regression analysis showed that the minimum estimated height was more valid in estimating the stature of Aryan and Dravidian population. Conclusion: The validity to use Carrea's index in Aryan and Dravidian population was evaluated and found to be valid. PMID:27555731

  7. An Odontometric Approach for Estimation of Stature in Indians: Cross- Sectional Analysis

    PubMed Central

    Yadav, Sumit Kumar; Kedia, Neal Bharat; Singh, Abhinav Kumar

    2016-01-01

    Introduction Height/stature is one of the useful anthropometric parameter for individual identification. Correlation of stature to long bones, even fragmentary bones is frequently reported among various populations. As teeth have the advantage of being composed largely of hard tissue which is relatively indestructible, the careful study of these can enable reliable determination of stature of the person in life. Aim The present study was designed to elucidate the anthropometric correlation of tooth dimensions with stature and also devises regression formulae. Materials and Methods This study was carried out on 361 Indian students (151 males and 210 females) in the age range of 21- 45 years to estimate stature using odontometry. Stature and tooth measurements were taken on each partcipant following standard methods and techniques. Karl Pearson’s correlation co-efficient and linear regression was used to estimate stature. Results Regression analysis showed that the canine width can aid in estimation of stature as an adjunct when only teeth are available for identification. Conclusion Tooth dimensions can be used only as a supplementary approach for the estimation of stature but with caution. PMID:27134995

  8. Exploring the multidimensionality of stature variation in the past through comparisons of archaeological and living populations.

    PubMed

    Vercellotti, Giuseppe; Piperata, Barbara A; Agnew, Amanda M; Wilson, Warren M; Dufour, Darna L; Reina, Julio C; Boano, Rosa; Justus, Hedy M; Larsen, Clark Spencer; Stout, Sam D; Sciulli, Paul W

    2014-10-01

    Adult stature variation is commonly attributed to differential stress-levels during development. However, due to selective mortality and heterogeneous frailty, a population's tall stature may be more indicative of high selective pressures than of positive life conditions. This article examines stature in a biocultural context and draws parallels between bioarchaeological and living populations to explore the multidimensionality of stature variation in the past. This study investigates: 1) stature differences between archaeological populations exposed to low or high stress (inferred from skeletal indicators); 2) similarities in growth retardation patterns between archaeological and living groups; and 3) the apportionment of variance in growth outcomes at the regional level in archaeological and living populations. Anatomical stature estimates were examined in relation to skeletal stress indicators (cribra orbitalia, porotic hyperostosis, linear enamel hypoplasia) in two medieval bioarchaeological populations. Stature and biocultural information were gathered for comparative living samples from South America. Results indicate 1) significant (P < 0.01) differences in stature between groups exposed to different levels of skeletal stress; 2) greater prevalence of stunting among living groups, with similar patterns in socially stratified archaeological and modern groups; and 3) a degree of regional variance in growth outcomes consistent with that observed for highly selected traits. The relationship between early stress and growth is confounded by several factors-including catch-up growth, cultural buffering, and social inequality. The interpretations of early life conditions based on the relationship between stress and stature should be advanced with caution. PMID:24894916

  9. Variation in ancient Egyptian stature and body proportions.

    PubMed

    Zakrzewski, Sonia R

    2003-07-01

    Stature and the pattern of body proportions were investigated in a series of six time-successive Egyptian populations in order to investigate the biological effects on human growth of the development and intensification of agriculture, and the formation of state-level social organization. Univariate analyses of variance were performed to assess differences between the sexes and among various time periods. Significant differences were found both in stature and in raw long bone length measurements between the early semipastoral population and the later intensive agricultural population. The size differences were greater in males than in females. This disparity is suggested to be due to greater male response to poor nutrition in the earlier populations, and with the increasing development of social hierarchy, males were being provisioned preferentially over females. Little change in body shape was found through time, suggesting that all body segments were varying in size in response to environmental and social conditions. The change found in body plan is suggested to be the result of the later groups having a more tropical (Nilotic) form than the preceding populations.

  10. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

    PubMed

    Beck, David B; Cho, Megan T; Millan, Francisca; Yates, Carin; Hannibal, Mark; O'Connor, Bridget; Shinawi, Marwan; Connolly, Anne M; Waggoner, Darrel; Halbach, Sara; Angle, Brad; Sanders, Victoria; Shen, Yufeng; Retterer, Kyle; Begtrup, Amber; Bai, Renkui; Chung, Wendy K

    2016-07-01

    Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missense variant in C-terminal binding protein 1 (CTBP1). CTBP1 is a transcriptional regulator critical for development by coordinating different regulatory pathways. The R331W variant found in these patients is within the C-terminal portion of the PLDLS (Pro-Leu-Asp-Leu-Ser) binding cleft, which is the domain through which CTBP1, interacts with chromatin-modifying enzymes and mediates chromatin-dependent gene repression pathways. This is the first report of mutations within CTBP1 in association with any human disease.

  11. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

    PubMed Central

    Moskowitz, Abby M.; Belnap, Newell; Siniard, Ashley L.; Szelinger, Szabolcs; Claasen, Ana M.; Richholt, Ryan F.; De Both, Matt; Corneveaux, Jason J.; Balak, Chris; Piras, Ignazio S.; Russell, Megan; Courtright, Amanda L.; Rangasamy, Sampath; Ramsey, Keri; Craig, David W.; Narayanan, Vinodh; Huentelman, Matt J.; Schrauwen, Isabelle

    2016-01-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.

  12. The determination of correlation between stature and upper limb and hand measurements in Iranian adults.

    PubMed

    Mahakizadeh, S; Moghani-Ghoroghi, F; Moshkdanian, Gh; Mokhtari, T; Hassanzadeh, G

    2016-03-01

    Estimation of stature is an important issue, which is significantly considered in forensic anthropology. It will be difficult to predict the identification of an individual when only some parts of dead body are discovered following disasters or criminal events. The aim of this study was to assess the relationship between stature and upper limb and hand length in Iranian adults to generate regression formulae for stature estimation. Three anthropometric measurements; Stature, Upper Limb Length (ULL) and Hand Length (HL) were taken on subjects, comprising 142 male students (18-25 years) using standard measuring instruments. The data were analysed using SPSS 16. Then linear regression models were used to estimate stature. The results indicated a positive correlation between stature and upper limb and hand measurements. The correlation coefficient with upper limb length was r = 0.89 & p = 0.0001 and with hand length was r = 0.78 & p = 0.0001. In conclusion, we found a strong correlation between stature and upper limb and hand length. The regression analysis also showed that the Upper Limb Length give better prediction of stature compared to Hand length measurements. PMID:26795396

  13. The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients

    ERIC Educational Resources Information Center

    Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

    2011-01-01

    Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

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

    PubMed

    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. PMID:26945108

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

    PubMed

    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.

  16. Higher Education and the Public Trust: Improving Stature in Colleges and Universities. ASHE-ERIC Higher Education Report No. 6.

    ERIC Educational Resources Information Center

    Alfred, Richard L.; Weissman, Julie

    Institutional stature, its development and determination, and strategies for its enhancement in colleges and universities are discussed. Focus is on the fundamental dimensions of stature, how it is affected by the external environment, and what colleges can do to improve it. Chapters are as follow: "Definition and Dimensions of Stature" (higher…

  17. Copy Number Variants in Short Children Born Small for Gestational Age

    PubMed Central

    Wit, Jan M.; van Duyvenvoorde, Hermine A.; van Klinken, Jan B.; Caliebe, Janina; Bosch, Cathy A.J.; Lui, Julian C.; Gijsbers, Antoinet C.J.; Bakker, Egbert; Breuning, Martijn H.; Oostdijk, Wilma; Losekoot, Monique; Baron, Jeffrey; Binder, Gerhard; Ranke, Michael B.; Ruivenkamp, Claudia A.L.

    2014-01-01

    Background/aims In addition to Genome-Wide Association studies (GWAS) height-associated genes may be uncovered by studying individuals with extreme short or tall stature. Methods Genome-wide analysis for copy number variants (CNVs), using Single Nucleotide Polymorphism (SNP) arrays, was performed in 49 index cases born small for gestational age (SGA) with persistent short stature. Segregation analysis was performed, and genes in CNVs were compared with information from GWAS, gene expression in rodents’ growth plates, and published information. Results CNVs were detected in 13 cases. In 5 children a known cause of short stature was found: UPD7, UPD14, a duplication of the SHOX enhancer region, an IGF1R deletion, and a 22q11.21 deletion. In the remaining 8 cases potential pathogenic CNVs were detected, either de novo (n=1), segregating (n=2), or not segregating with short stature (n=5). Bioinformatic analysis of the de novo and segregating CNVs suggested that HOXD4, AGPS, PDE11A, OSBPL6, PRKRA and PLEKHA3, and possibly DGKB and TNFRSF11B are potential candidate genes. A SERPINA7 or NRK defect may be associated with an X-linked form of short stature. Conclusion SNP arrays detected 5 known causes of short stature with prenatal onset and suggested several potential candidate genes. PMID:25300501

  18. Small-for-gestational age and its association with maternal blood glucose, body mass index and stature: a perinatal cohort study among Chinese women

    PubMed Central

    Leng, Junhong; Hay, John; Liu, Gongshu; Zhang, Jing; Wang, Jing; Liu, Huihuan; Yang, Xilin; Liu, Jian

    2016-01-01

    Objective To examine whether maternal low blood glucose (BG), low body mass index (BMI) and small stature have a joint effect on the risk of delivery of a small-for-gestational age (SGA) infant. Design Women from a perinatal cohort were followed up from receiving perinatal healthcare to giving birth. Setting Beichen District, Tianjin, China between June 2011 and October 2012. Participants 1572 women aged 19–39 years with valid values of stature, BMI and BG level at gestational diabetes mellitus screening (gestational weeks 24–28), glucose challenge test <7.8 mmol/L and singleton birth (≥37 weeks’ gestation). Main outcome measures SGA was defined as birth weight <10th centile for gender separated gestational age of Tianjin singletons. Results 164 neonates (10.4%) were identified as SGA. From multiple logistic regression models, the ORs (95% CI) of delivery of SGA were 0.84 (0.72 to 0.98), 0.61 (0.49 to 0.74) and 0.64 (0.54 to 0.76) for every 1 SD increase in maternal BG, BMI and stature, respectively. When dichotomises, maternal BG (<6.0 vs ≥6.0 mmol/L), BMI (<24 vs ≥24 kg/m2) and stature (<160.0 vs ≥160.0 cm), those with BG, BMI and stature all in the lower categories had ∼8 times higher odds of delivering an SGA neonate (OR (95% CI) 8.01 (3.78 to 16.96)) relative to the reference that had BG, BMI and stature all in the high categories. The odds for an SGA delivery among women who had any 2 variables in the lower categories were ∼2–4 times higher. Conclusions Low maternal BG is associated with an increased risk of having an SGA infant. The risk of SGA is significantly increased when the mother is also short and has a low BMI. This may be a useful clinical tool to identify women at higher risk for having an SGA infant at delivery. PMID:27633632

  19. Covariation between human pelvis shape, stature, and head size alleviates the obstetric dilemma.

    PubMed

    Fischer, Barbara; Mitteroecker, Philipp

    2015-05-01

    Compared with other primates, childbirth is remarkably difficult in humans because the head of a human neonate is large relative to the birth-relevant dimensions of the maternal pelvis. It seems puzzling that females have not evolved wider pelvises despite the high maternal mortality and morbidity risk connected to childbirth. Despite this seeming lack of change in average pelvic morphology, we show that humans have evolved a complex link between pelvis shape, stature, and head circumference that was not recognized before. The identified covariance patterns contribute to ameliorate the "obstetric dilemma." Females with a large head, who are likely to give birth to neonates with a large head, possess birth canals that are shaped to better accommodate large-headed neonates. Short females with an increased risk of cephalopelvic mismatch possess a rounder inlet, which is beneficial for obstetrics. We suggest that these covariances have evolved by the strong correlational selection resulting from childbirth. Although males are not subject to obstetric selection, they also show part of these association patterns, indicating a genetic-developmental origin of integration.

  20. Covariation between human pelvis shape, stature, and head size alleviates the obstetric dilemma

    PubMed Central

    Fischer, Barbara; Mitteroecker, Philipp

    2015-01-01

    Compared with other primates, childbirth is remarkably difficult in humans because the head of a human neonate is large relative to the birth-relevant dimensions of the maternal pelvis. It seems puzzling that females have not evolved wider pelvises despite the high maternal mortality and morbidity risk connected to childbirth. Despite this seeming lack of change in average pelvic morphology, we show that humans have evolved a complex link between pelvis shape, stature, and head circumference that was not recognized before. The identified covariance patterns contribute to ameliorate the “obstetric dilemma.” Females with a large head, who are likely to give birth to neonates with a large head, possess birth canals that are shaped to better accommodate large-headed neonates. Short females with an increased risk of cephalopelvic mismatch possess a rounder inlet, which is beneficial for obstetrics. We suggest that these covariances have evolved by the strong correlational selection resulting from childbirth. Although males are not subject to obstetric selection, they also show part of these association patterns, indicating a genetic–developmental origin of integration. PMID:25902498

  1. Covariation between human pelvis shape, stature, and head size alleviates the obstetric dilemma.

    PubMed

    Fischer, Barbara; Mitteroecker, Philipp

    2015-05-01

    Compared with other primates, childbirth is remarkably difficult in humans because the head of a human neonate is large relative to the birth-relevant dimensions of the maternal pelvis. It seems puzzling that females have not evolved wider pelvises despite the high maternal mortality and morbidity risk connected to childbirth. Despite this seeming lack of change in average pelvic morphology, we show that humans have evolved a complex link between pelvis shape, stature, and head circumference that was not recognized before. The identified covariance patterns contribute to ameliorate the "obstetric dilemma." Females with a large head, who are likely to give birth to neonates with a large head, possess birth canals that are shaped to better accommodate large-headed neonates. Short females with an increased risk of cephalopelvic mismatch possess a rounder inlet, which is beneficial for obstetrics. We suggest that these covariances have evolved by the strong correlational selection resulting from childbirth. Although males are not subject to obstetric selection, they also show part of these association patterns, indicating a genetic-developmental origin of integration. PMID:25902498

  2. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

    PubMed Central

    Moskowitz, Abby M.; Belnap, Newell; Siniard, Ashley L.; Szelinger, Szabolcs; Claasen, Ana M.; Richholt, Ryan F.; De Both, Matt; Corneveaux, Jason J.; Balak, Chris; Piras, Ignazio S.; Russell, Megan; Courtright, Amanda L.; Rangasamy, Sampath; Ramsey, Keri; Craig, David W.; Narayanan, Vinodh; Huentelman, Matt J.; Schrauwen, Isabelle

    2016-01-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes. PMID:27626064

  3. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

    PubMed

    Moskowitz, Abby M; Belnap, Newell; Siniard, Ashley L; Szelinger, Szabolcs; Claasen, Ana M; Richholt, Ryan F; De Both, Matt; Corneveaux, Jason J; Balak, Chris; Piras, Ignazio S; Russell, Megan; Courtright, Amanda L; Rangasamy, Sampath; Ramsey, Keri; Craig, David W; Narayanan, Vinodh; Huentelman, Matt J; Schrauwen, Isabelle

    2016-09-01

    Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes. PMID:27626064

  4. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

    PubMed

    Harel, Tamar; Yesil, Gozde; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K; Hunter, Jill V; Jhangiani, Shalini N; Rosenfeld, Jill A; Pehlivan, Davut; El-Hattab, Ayman W; Saleh, Mohammed A; LeDuc, Charles A; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A; Chung, Wendy K; Yang, Yaping; Belmont, John W; Lupski, James R

    2016-03-01

    The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum. PMID:26942288

  5. De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism

    PubMed Central

    Shang, Linshan; Henderson, Lindsay B.; Cho, Megan T.; Petrey, Donald S.; Fong, Chin-To; Haude, Katrina M.; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W.; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G.; Chung, Wendy K.

    2016-01-01

    Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and GSK3β-mediated cell growth, chromatin remodeling and gene transcriptional regulation. Using WES, we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with ID and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures and dysmorphic features. Among the four variant, two have been previously reported, and two are novel. All four amino acids are highly conserved among the PP2A subunit family, and all change a negatively charged acidic glutamic acid (E) to a positively charged basic lysine (K), and are predicted to disrupt the PP2A subunits binding and impair the dephosphorylation capacity. Our data provides further support for PPP2R5D as a genetic cause of ID. PMID:26576547

  6. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

    PubMed Central

    Harel, Tamar; Yesil, Gozde; Bayram, Yavuz; Coban-Akdemir, Zeynep; Charng, Wu-Lin; Karaca, Ender; Al Asmari, Ali; Eldomery, Mohammad K.; Hunter, Jill V.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Pehlivan, Davut; El-Hattab, Ayman W.; Saleh, Mohammed A.; LeDuc, Charles A.; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard A.; Chung, Wendy K.; Yang, Yaping; Belmont, John W.; Lupski, James R.

    2016-01-01

    The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum. PMID:26942288

  7. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

    PubMed Central

    Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret; Edvardson, Shimon; Elpeleg, Orly; Chisholm, Elizabeth; Juusola, Jane; Douglas, Ganka; Guillen Sacoto, Maria J.; Siquier-Pernet, Karine; Saadi, Abdelkrim; Bole-Feysot, Christine; Nitschke, Patrick; Narravula, Alekhya; Walke, Maria; Horner, Michele B.; Day-Salvatore, Debra-Lynn; Jayakar, Parul; Vergano, Samantha A. Schrier; Tarnopolsky, Mark A.; Hegde, Madhuri; Colleaux, Laurence; Crino, Peter; Hakonarson, Hakon

    2016-01-01

    Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atrophy and white-matter changes on neuroimaging. Minor non-specific facial dysmorphism was also noted in some individuals, including multiple older children who developed coarse features similar to those of storage disorders. TBCK has been shown to regulate the mammalian target of rapamycin (mTOR) signaling pathway, which is also stimulated by exogenous leucine supplementation. TBCK was absent in cells from affected individuals, and decreased phosphorylation of phospho-ribosomal protein S6 was also observed, a finding suggestive of downregulation of mTOR signaling. Lastly, we demonstrated that activation of the mTOR pathway in response to L-leucine supplementation was retained, suggesting a possible avenue for directed therapies for this condition. PMID:27040691

  8. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

    PubMed

    Shang, Linshan; Henderson, Lindsay B; Cho, Megan T; Petrey, Donald S; Fong, Chin-To; Haude, Katrina M; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K

    2016-01-01

    Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and glycogen synthase kinase 3 beta (GSK3β)-mediated cell growth, chromatin remodeling, and gene transcriptional regulation. Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features. Among the four variants, two have been previously reported and two are novel. All four amino acids are highly conserved among the PP2A subunit family, and all change a negatively charged acidic glutamic acid (E) to a positively charged basic lysine (K) and are predicted to disrupt the PP2A subunit binding and impair the dephosphorylation capacity. Our data provides further support for PPP2R5D as a genetic cause of ID.

  9. Growth hormone response to a standardised exercise test in relation to puberty and stature.

    PubMed Central

    Greene, S A; Torresani, T; Prader, A

    1987-01-01

    Growth hormone (GH) was measured before and 10 minutes after a standardised bicycle exercise test (duration 15 minutes) in 37 short children (group 1: mean (SD) age 12.8 (3.5) years; mean (SD) bone age 10.4 (3.6) years; mean (SD) height standard deviation score (SDS) -2.8 (0.7], 16 tall children (group 2: mean age 12.9 (2.8) years; mean bone age 13.9 (1.4) years; mean height SDS 3.0 (0.8], and 30 normal children (group 3: mean age 13.3 (3.2) years; mean bone age 12.8 (3.4) years; mean height SDS -0.4 (0.8]. Results of GH are expressed as mean (SEM). The pre-exercise GH was similar in the three groups (group 1, 8.0 (2.3) mU/l, group 2, 8.5 (2.5) mU/l, and group 3, 8.3 (2.3) mU/l). There was a significant rise in GH after exercise in all three groups. GH after exercise was higher in group 2 (35.1 (2.5) mU/l) compared with groups 1 and 3 (17.8 (3.0) and (20.8 (3.2) mU/l). Post-exercise GH was less than 10 mU/l in 29 children (34% total; 49% group 1, 6% group 2, and 34% group 3). There was a positive relation between post-exercise GH and both bone age and public hair stage. Multiple regression analysis revealed that relevant predictors of a rise in GH with exercise were different for the sexes in these children with varying stature: for boys, bone age and pubic hair stage; for girls, height and height SDS. All the tall girls were in puberty. No statistical relation was observed between post-experience GH and cardiovascular response to exercise, time of day of exercise, time of eating before exercise, and plasma insulin or insulin to glucose ratio at time of exercise. We conclude that the GH response to the physiological stimulus of exercise is higher in puberty compared with childhood. Therefore, although children may be suspected of having GH deficiency after a failure of GH to increase after exercise, a non-response may be a normal finding in prepubertal children, independent of stature. PMID:3813636

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

    PubMed

    Jørkov, Marie Louise S

    2015-12-01

    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 the first time in Denmark this study makes a comparison between skeletal stature and contemporary Danish conscript heights and investigates stature of males and females temporally and between socially distinct individuals and populations in 19th and early 20th century Copenhagen. A total of 357 individuals (181 males, 176 females) excavated at the Assistens cemetery in Copenhagen is analyzed. Two stature regression formulae (Trotter, 1970; Boldsen, 1990) are applied using femur measurements and evaluated compared to conscript heights. The results indicate that mean male stature using Boldsen follows a similar trend as the Danish conscript heights and that Trotter overestimate stature by ca. 6cm over Boldsen. At an inter population level statistically significant differences in male stature are observed between first and second half of the 19th century towards a slight stature decrease and larger variation while there are no significant changes observed in female stature. There are insignificant differences in stature between middle and high class individuals, but male stature differs statistically between cemeteries (p=0.000) representing middle/high class, paupers and navy employees, respectively. 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.

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

    PubMed

    Jørkov, Marie Louise S

    2015-12-01

    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 the first time in Denmark this study makes a comparison between skeletal stature and contemporary Danish conscript heights and investigates stature of males and females temporally and between socially distinct individuals and populations in 19th and early 20th century Copenhagen. A total of 357 individuals (181 males, 176 females) excavated at the Assistens cemetery in Copenhagen is analyzed. Two stature regression formulae (Trotter, 1970; Boldsen, 1990) are applied using femur measurements and evaluated compared to conscript heights. The results indicate that mean male stature using Boldsen follows a similar trend as the Danish conscript heights and that Trotter overestimate stature by ca. 6cm over Boldsen. At an inter population level statistically significant differences in male stature are observed between first and second half of the 19th century towards a slight stature decrease and larger variation while there are no significant changes observed in female stature. There are insignificant differences in stature between middle and high class individuals, but male stature differs statistically between cemeteries (p=0.000) representing middle/high class, paupers and navy employees, respectively. 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. PMID:26256129

  12. Voices of athletes reveal only modest acoustic correlates of stature

    NASA Astrophysics Data System (ADS)

    Owren, Michael J.; Anderson, John D.

    2005-04-01

    Recent studies of acoustic cues to body-size in nonhuman primate and human vocalizations have produced results varying from very strong relationships between formant frequencies and length/weight in rhesus monkeys to weak correlations between formants and stature in humans. The current work attempted to address these discrepancies by compiling a database of naturally occurring speech with a large number of vocalizers of maximally varying size. To that end, fundamental frequency (F0) and formant frequencies were measured in both running speech and filled pauses (i.e., ``ah'' and ``um'') produced by male athletes during televised same-day interviews. Multiple-regression analysis of data from 100 male athletes showed that these acoustic measures accounted for at most 17% of variance in height over a 37-cm range. Analyses of filled speech pauses produced by a subset of 48 athletes could account for up to 36%. These outcomes fall within the range of previously reported outcomes, indicating that while speech acoustics are correlated with body-size in human adult males, the cues provided are quite modest.

  13. Stature estimation from skull measurements using multidetector computed tomographic images: A Japanese forensic sample.

    PubMed

    Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Sakuma, Ayaka; Ishii, Namiko; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Yamaguchi, Rutsuko; Hashimoto, Mari; Hoshioka, Yumi; Iwase, Hirotaro

    2016-01-01

    The aim of this study was to assess the correlation between stature and cranial measurements in a contemporary Japanese population, using three-dimensional (3D) computed tomographic (CT) images. A total of 228 cadavers (123 males, 105 females) underwent postmortem CT scanning and subsequent forensic autopsy between May 2011 and April 2015. Five cranial measurements were taken from 3D CT reconstructed images that extracted only cranial data. The correlations between stature and each of the cranial measurements were assessed with Pearson product-moment correlation coefficients. Simple and multiple regression analyses showed significant correlations between stature and cranial measurements. In conclusion, cranial measurements obtained from 3D CT images may be useful for forensic estimation of the stature of Japanese individuals, particularly in cases where better predictors, such as long bones, are not available.

  14. Stature estimation in Japanese cadavers using the sacral and coccygeal length measured with multidetector computed tomography.

    PubMed

    Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Ishii, Namiko; Hayakawa, Mutsumi; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Iwase, Hirotaro

    2014-01-01

    We evaluated the relationship between stature and the length of the sacrum and coccyx using multidetector computed tomography (MDCT) and derived regression equations for stature estimation in the modern Japanese population. Two hundred and sixteen Japanese subjects (110 males and 106 females) who underwent postmortem computed tomography with subsequent forensic autopsy between January 2010 and August 2013 were measured. A sagittal-plane image of the sacrum and coccyx was used. Anterior sacral length (ASL) was defined as the linear distance from the anterosuperior edge of the first sacral vertebra (S1) to the anteroinferior edge of the fifth sacral vertebra (S5), and posterior sacral length (PSL) was defined as the linear distance from the posterosuperior edge of S1 to the anteroinferior edge of S5. Anterior sacrococcygeal length (ASCL) was defined as the linear distance from the anterosuperior edge of S1 to the anteroinferior edge of the last coccygeal vertebra (LCV), and posterior sacrococcygeal length (PSCL) was defined as the linear distance from the posterosuperior edge of S1 to the anteroinferior edge of the LCV. The correlation between stature and each parameter was evaluated by simple regression analysis using Pearson product-moment correlation coefficients. Each parameter was significantly and positively correlated with stature among both males and females. Cadaver stature (CS, cm)=0.39×PSL (mm)+123.70 [Corrected] provided the most accurate stature prediction (R=0.507, SEE=5.83 cm) in males. CS (cm)=0.56×PSCL (mm)+85.29 provided the most accurate stature prediction (R=0.659, SEE=6.68 cm) in females. We conclude that sacral/sacrococcygeal length measured with MDCT is a potentially useful tool for stature estimation, particularly in cases where better predictors such as the long bones are not available.

  15. New soft tissue correction factors for stature estimation: results from magnetic resonance imaging.

    PubMed

    Bidmos, Mubarak Ariyo; Manger, Paul Robert

    2012-01-10

    In stature reconstruction using Fully's method, it is essential that a soft tissue correction factor be added to skeletal height in order to obtain an estimate of living stature. While some anthropologists consider Fully's method to be the most reliable for stature estimation, others consider it to be inadequate as it seems to be underestimating living stature, possibly due to an error in the magnitude of Fully's soft tissue factors. A recent study by Raxter and co-workers revised Fully's technique and also presented a new "universally applicable" soft tissue correction factor. The present study examines the reliability of soft tissue correction factors of Fully and Raxter et al. on a living sample of indigenous South African males. The current study is based on data collected from 28 indigenous South African (ISA) male volunteers. Standing height of each subject was measured using a stadiometer. Fully's method was used in the calculation of total skeletal height from a full body MRI scan of each subject. Subsequent analyses of the acquired data revealed that the previously derived soft tissue correction factors are not applicable to the studied sample, and why they are not applicable. The correction factors of Fully and Raxter et al. both significantly underestimate living stature in a living sample of indigenous South African males. Consequently, a new correction factor was calculated based on the prediction of living stature from TSH using regression analysis.

  16. Genetics of human stature: Lessons from genome-wide association studies.

    PubMed

    Perola, Markus

    2011-01-01

    Over the past 2 to 3 years, linkage disequilibrium mapping methods, or genome-wide association studies (GWAS), have made a seminal turn in the molecular genetic studies of complex human traits such as height, i.e., stature. Human stature is a highly heritable trait across populations and the phenotype for stature is easily measured and related to many other traits; therefore, it is available in most studies evaluating any phenotype. For this reason, it has become a beacon for large consortium genetic studies, during both the pre-GWAS and GWAS eras. Tens of thousands of genome-scanned individuals have been analysed together against their genome. Several loci have been implicated in association with stature (54 of these have been published), and most chromosomes have a locus linked to the trait in family studies. However, the prediction power of loci indentified by molecular genetic methods still remains inferior to clinical assessment of offspring stature using midparental height as a guide. Although the genomic methods provide important insights into heritability of stature, it will be a major challenge for molecular genetic studies to provide information that surpasses that of midparental height.

  17. Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study.

    PubMed

    Trabacca, Antonio; Losito, Luciana; De Rinaldis, Marta; Gennaro, Leonarda

    2011-02-01

    The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and neurologic disorders of childhood are characterized by congenital hypotonia. This muscle tone disorder is often one of the symptoms that a neurologist is asked to evaluate. Recent advances in genetic testing can help provide a specific diagnosis for children with this symptom. Subtelomeric deletions are a category of disorders of which hypotonia can be a prominent feature. Deletions of chromosome 22q13 are some of the most commonly observed terminal deletions in humans, whereas duplications of chromosome 2p25.2 are very rare, and little is known about the phenotypic effect of these duplications. To the best of the authors' knowledge, this association has never been described before.

  18. A new syndrome of short stature, joint limitation and muscle hypertrophy.

    PubMed

    Soljak, M A; Aftimos, S; Gluckman, P D

    1983-06-01

    A further case is presented of a new growth deficiency syndrome first reported by Myre et al. in 1981. The major clinical features are mental retardation, growth deficiency, muscular hypertrophy, joint limitation and abnormal skeletal radiography. PMID:6684009

  19. Trisomy 18 mosaicism in a 15-year-old boy with normal intelligence and short stature

    SciTech Connect

    1995-05-08

    We report a 15-year-old boy with mosaicism for trisomy 18 and normal intelligence. Approximately 50% of his leukocytes are trisomic. This patient represents the sixth report of an individual with trisomy 18 mosaicism and normal intelligence. Those individuals with trisomy 18 mosaicism and normal intelligence need to be advised of increased risks for offspring with chromosome abnormalities and offered the option of prenatal diagnosis for cytogenetic anomalies. 6 refs.

  20. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

    PubMed

    Niederwieser, A; Blau, N; Wang, M; Joller, P; Atarés, M; Cardesa-Garcia, J

    1984-02-01

    A 4-year-old patient is described with hyperphenylalaninemia, severe retardation in development, severe muscular hypotonia of the trunk and hypertonia of the extremities, convulsions, and frequent episodes of hyperthermia without infections. Urinary excretion of neopterin, biopterin, pterin, isoxanthopterin, dopamine, and serotonin was very low, although the relative proportions of pterins were normal. In lumbar cerebrospinal fluid, homovanillic acid, 5-hydroxyindoleacetic acid, neopterin and biopterin were low. Oral administration of L-erythro tetrahydrobiopterin normalized the elevated serum phenylalanine within 4 h, serum tyrosine was increased briefly and serum alanine and glutamic acid for a longer time. Urinary dopamine and serotonin excretion were also increased. Administration of an equivalent dose of D-erythro tetrahydroneopterin was ineffective and demonstrated that this compound is not a cofactor in vivo and cannot be transformed into an active cofactor. GTP cyclohydrolase I activity was not detectable in liver biopsies from the patient. The presence of an endogenous inhibitor in the patient's liver was excluded. This is the first case of a new variant of hyperphenylalaninemia in which the formation of dihydroneopterin triphosphate and its pterin metabolites in liver is markedly diminished. Normal activities of xanthine oxidase and sulfite oxidase were apparent since uric acid levels were normal and no increase in hypoxanthine, xanthine, and S-sulfocysteine concentrations could be observed in urine. It is concluded that the molybdenum cofactor of these enzymes may not be derived from dihydroneopterin triphosphate in man. Also, since no gross abnormalities in the patient's immune system could be found, it seems unlikely that dihydroneopterin triphosphate metabolites, such as neopterin, participate actively in immunological processes, as postulated by others. See Note added in proof. PMID:6734669

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

    PubMed

    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.

  2. The mass-specific energy cost of human walking is set by stature.

    PubMed

    Weyand, Peter G; Smith, Bethany R; Puyau, Maurice R; Butte, Nancy F

    2010-12-01

    The metabolic and mechanical requirements of walking are considered to be of fundamental importance to the health, physiological function and even the evolution of modern humans. Although walking energy expenditure and gait mechanics are clearly linked, a direct quantitative relationship has not emerged in more than a century of formal investigation. Here, on the basis of previous observations that children and smaller adult walkers expend more energy on a per kilogram basis than larger ones do, and the theory of dynamic similarity, we hypothesized that body length (or stature, L(b)) explains the apparent body-size dependency of human walking economy. We measured metabolic rates and gait mechanics at six speeds from 0.4 to 1.9 m s(-1) in 48 human subjects who varied by a factor of 1.5 in stature and approximately six in both age and body mass. In accordance with theoretical expectation, we found the most economical walking speeds measured (J kg(-1) m(-1)) to be dynamically equivalent (i.e. similar U, where U=velocity(2)/gravity · leg length) among smaller and larger individuals. At these speeds, stride lengths were directly proportional to stature whereas the metabolic cost per stride was largely invariant (2.74±0.12 J kg(-1) stride(-1)). The tight coupling of stature, gait mechanics and metabolic energy expenditure resulted in an inverse relationship between mass-specific transport costs and stature (E(trans)/M(b)∝L(b)(-0.95), J kg(-1) m(-1)). We conclude that humans spanning a broad range of ages, statures and masses incur the same mass-specific metabolic cost to walk a horizontal distance equal to their stature.

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

    PubMed

    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.

  4. Directional dominance on stature and cognition in diverse human populations

    PubMed Central

    Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U.; Schurmann, Claudia; Smith, Albert V.; Zhang, Weihua; Okada, Yukinori; Stančáková, Alena; Faul, Jessica D.; Zhao, Wei; Bartz, Traci M.; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I.; O’Connel, Jeffery R.; Corre, Tanguy; Nongmaithem, Suraj S.; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K.; Yanek, Lisa R.; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A.; McLeod, Olga; Cornelis, Marilyn C.; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R.; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R.B.; Cappellani, Stefania; Mirza, Saira S.; Benton, Miles C.; Broeckel, Ulrich; Medland, Sarah E.; Lind, Penelope A.; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F.; Zhi, Degui; van der Most, Peter J.; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W.; Bradfield, Jonathan P.; Wood, Andrew R.; Bonnefond, Amelie; Ahluwalia, Tarunveer S.; Hall, Leanne M.; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G.; Abney, Mark; Afzal, Uzma; Allison, Matthew A.; Amin, Najaf; Asselbergs, Folkert W.; Bakker, Stephan J.L.; Barr, R. Graham; Baumeister, Sebastian E.; Benjamin, Daniel J.; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P.; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J.; Chen, Constance; Chen, Y.-D. Ida; Collins, Francis S.; Connell, John; Correa, Adolfo; Cupples, L. Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B.; Feenstra, Bjarke; Feitosa, Mary F.; Ford, Ian; Fox, Caroline S.; Frayling, Timothy M.; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J.; Harris, Sarah E.; Harris, Tamara B.; Hastie, Nicholas D.; Heard-Costa, Nancy L.; Heikkilä, Kauko; Hocking, Lynne J.; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E.; Hysi, Pirro G.; Ikram, M. Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J. Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M.; Khan, Nazir M.; Koellinger, Philipp; Koistinen, Heikki A.; Kooner, Manraj K.; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J.; Lea, Rodney A.; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C.M.; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J.; Loomis, Stephanie J.; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A.; Matsuda, Koichi; Meigs, James B.; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D.; Mihailov, Evelin; Milani, Lili; Montasser, May E.; Montgomery, Grant W.; Morrison, Alanna; Myers, Richard H.; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S.; Nolte, Ilja M.; O’Connor, George T.; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R.; Pankow, James S.; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A.; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S.; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M.; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J.; Scott, William R.; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H.; Smith, Jennifer A.; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V.; Stathopoulou, Maria G.; Strauch, Konstantin; Strawbridge, Rona J.; Suderman, Matthew J.; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D.; Tayo, Bamidele O.; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G.; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B.; Wentworth-Shields, William; Whitfield, John B.; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S.; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Project, The BioBank Japan; Salem, Rany M.; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J.; Cusi, Daniele; Mackey, David A.; Cooper, Richard S.; Froguel, Philippe; Pasterkamp, Gerard; Grant, Struan F.A.; Hakonarson, Hakon; Ferrucci, Luigi; Scott, Robert A.; Morris, Andrew D.; Palmer, Colin N.A.; Dedoussis, George; Deloukas, Panos; Bertram, Lars; Lindenberger, Ulman; Berndt, Sonja I.; Lindgren, Cecilia M.; Timpson, Nicholas J.; Tönjes, Anke; Munroe, Patricia B.; Sørensen, Thorkild I.A.; Rotimi, Charles N.; Arnett, Donna K.; Oldehinkel, Albertine J.; Kardia, Sharon L.R.; Balkau, Beverley; Gambaro, Giovanni; Morris, Andrew P.; Eriksson, Johan G.; Wright, Margie J.; Martin, Nicholas G.; Hunt, Steven C.; Starr, John M.; Deary, Ian J.; Griffiths, Lyn R.; Tiemeier, Henning; Pirastu, Nicola; Kaprio, Jaakko; Wareham, Nicholas J.; Pérusse, Louis; Wilson, James G.; Girotto, Giorgia; Caulfield, Mark J.; Raitakari, Olli; Boomsma, Dorret I.; Gieger, Christian; van der Harst, Pim; Hicks, Andrew A.; Kraft, Peter; Sinisalo, Juha; Knekt, Paul; Johannesson, Magnus; Magnusson, Patrik K.E.; Hamsten, Anders; Schmidt, Reinhold; Borecki, Ingrid B.; Vartiainen, Erkki; Becker, Diane M.; Bharadwaj, Dwaipayan; Mohlke, Karen L.; Boehnke, Michael; van Duijn, Cornelia M.; Sanghera, Dharambir K.; Teumer, Alexander; Zeggini, Eleftheria; Metspalu, Andres; Gasparini, Paolo; Ulivi, Sheila; Ober, Carole; Toniolo, Daniela; Rudan, Igor; Porteous, David J.; Ciullo, Marina; Spector, Tim D.; Hayward, Caroline; Dupuis, Josée; Loos, Ruth J.F.; Wright, Alan F.; Chandak, Giriraj R.; Vollenweider, Peter; Shuldiner, Alan; Ridker, Paul M.; Rotter, Jerome I.; Sattar, Naveed; Gyllensten, Ulf; North, Kari E.; Pirastu, Mario; Psaty, Bruce M.; Weir, David R.; Laakso, Markku; Gudnason, Vilmundur; Takahashi, Atsushi; Chambers, John C.; Kooner, Jaspal S.; Strachan, David P.; Campbell, Harry; Hirschhorn, Joel N.; Perola, Markus

    2015-01-01

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been

  5. Estimation of stature from radiologic anthropometry of the lumbar vertebral dimensions in Chinese.

    PubMed

    Zhang, Kui; Chang, Yun-feng; Fan, Fei; Deng, Zhen-hua

    2015-11-01

    The recent study was to assess the relationship between the radiologic anthropometry of the lumbar vertebral dimensions and stature in Chinese and to develop regression formulae to estimate stature from these dimensions. A total of 412 normal, healthy volunteers, comprising 206 males and 206 females, were recruited. The linear regression analysis were performed to assess the correlation between the stature and lengths of various segments of the lumbar vertebral column. Among the regression equations created for single variable, the predictive value was greatest for the reconstruction of stature from the lumbar segment in both sexes and subgroup analysis. When individual vertebral body was used, the heights of posterior vertebral body of L3 gave the most accurate results for male group, the heights of central vertebral body of L1 provided the most accurate results for female group and female group with age above 45 years, the heights of central vertebral body of L3 gave the most accurate results for the groups with age from 20-45 years for both sexes and the male group with age above 45 years. The heights of anterior vertebral body of L5 gave the less accurate results except for the heights of anterior vertebral body of L4 provided the less accurate result for the male group with age above 45 years. As expected, multiple regression equations were more successful than equations derived from a single variable. The research observations suggest lumbar vertebral dimensions to be useful in stature estimation among Chinese population.

  6. Estimation of living stature from selected anthropometric (soft tissue) measurements: applications for forensic anthropology.

    PubMed

    Adams, Bradley J; Herrmann, Nicholas P

    2009-07-01

    Estimation of living stature has obvious utility in the identification process. Typically, anthropologists estimate stature from the measurement of long bone length. This type of analysis is traditionally conducted on skeletonized or badly decomposed remains, so collection of the necessary bone measurements is relatively simple. As the role of anthropologists expands into medical examiner offices and mass fatality incidents, the analysis of fleshed bodies and body parts is a more common scenario. For stature estimation in these types of cases (e.g., analysis of body portions recovered from an aircraft crash site or from intentional dismemberment), the presence of soft tissue on the human remains would usually necessitate dissection to expose skeletal elements to derive metric data for stature estimation. In order to circumvent this step, this paper provides various formulae that allow for standard anthropometric (i.e., soft tissue) measurements to be used in place of skeletal measurements. Data were compiled from several anthropometric studies (National Health and Nutrition Examination Survey [NHANES] and U.S. Army Anthropometric Survey [ANSUR]) and numerous regression models are presented. Results are compared between skeletal measurements and the anthropometric measurements from each study. It was found that the ANSUR models are similar to the skeletal models, while the NHANES models exhibit weaker correlation coefficients and higher standard errors. Overall, this study finds that stature estimates derived from anthropometric data provide good results and remove the necessity for dissection when working with fleshed body portions.

  7. Estimation of stature from radiologic anthropometry of the lumbar vertebral dimensions in Chinese.

    PubMed

    Zhang, Kui; Chang, Yun-feng; Fan, Fei; Deng, Zhen-hua

    2015-11-01

    The recent study was to assess the relationship between the radiologic anthropometry of the lumbar vertebral dimensions and stature in Chinese and to develop regression formulae to estimate stature from these dimensions. A total of 412 normal, healthy volunteers, comprising 206 males and 206 females, were recruited. The linear regression analysis were performed to assess the correlation between the stature and lengths of various segments of the lumbar vertebral column. Among the regression equations created for single variable, the predictive value was greatest for the reconstruction of stature from the lumbar segment in both sexes and subgroup analysis. When individual vertebral body was used, the heights of posterior vertebral body of L3 gave the most accurate results for male group, the heights of central vertebral body of L1 provided the most accurate results for female group and female group with age above 45 years, the heights of central vertebral body of L3 gave the most accurate results for the groups with age from 20-45 years for both sexes and the male group with age above 45 years. The heights of anterior vertebral body of L5 gave the less accurate results except for the heights of anterior vertebral body of L4 provided the less accurate result for the male group with age above 45 years. As expected, multiple regression equations were more successful than equations derived from a single variable. The research observations suggest lumbar vertebral dimensions to be useful in stature estimation among Chinese population. PMID:26593994

  8. Estimation of stature from maxillo-facial anthropometry in a central Indian population

    PubMed Central

    Wankhede, Kanchankumar P; Kamdi, Namdeo Y; Parchand, Madhukar P; Anjankar, Vaibhav P; Bardale, Rajesh V

    2012-01-01

    Background: For establishing identity, stature is an important parameter in medico-legal and forensic examination. Aims: To estimate stature from facial parameters. Setting and Design: Prospective study conducted from December 2007 to September 2008 in the Department of Anatomy, Government Medical College, Nagpur. Materials and Methods: A total of 470 healthy medical students were taken, comprising 260 males and 210 females in the age group of 18 to 24 years. Statistical Analysis: The data were analyzed using regression analysis and correlation coefficient. Results: The average height of males and females was 170.97 (± 6.80) cm and 156.89 (± 5.89) cm respectively. It was observed that in males the total facial height had greater correlation with stature (r = 0.19) and had standard error of ±6.68 cm. In females, nasal height had greater correlation with stature (r = 0.19) and had standard error of ±5.78 cm Conclusion: It can be stated that percutaneous facial dimensions are not good predictors of accurate stature estimation and can be used when other parameters are not available PMID:23087580

  9. Estimation of stature from foot length and foot breadth among the Rajbanshi: an indigenous population of North Bengal.

    PubMed

    Sen, Jaydip; Ghosh, Shila

    2008-10-25

    In forensic anthropology, estimation of stature from feet dimensions plays a significant role in establishing personal identity. There is a scarcity of literature on the estimation of stature from foot length and foot breadth among various Indian populations, including the indigenous populations found in the northern part of the state of West Bengal, India. The Rajbanshis and the Meches are two such indigenous populations. The present study is an attempt to understand the relationship between stature and feet dimensions among Rajbanshi male and female individuals of North Bengal, India. Measurements of stature, foot length and foot breadth were recorded from 350 adult Rajbanshi and 100 adult Meche individuals (age range: 18-50 years) residing in different villages located in the Darjeeling District of West Bengal. The Technical Error of Measurements was within the accepted limits. The results of the present study indicate that female Rajbanshi individuals exhibit shorter stature and smaller feet than their male counterparts. Using ANOVA, it is determined that there was significant differences (p<0.05) in stature, foot length and foot breadth between sexes. Using paired t-test, it is further observed that bilateral variation was significant (p<0.05) within sexes with respect to foot length, but not with foot breadth (p>0.05). Stature, foot length and foot breadth are positively and significantly correlated with each other (p<0.01). The higher correlation coefficient between stature and foot length over that of stature and foot breadth points to the fact that foot length, rather than foot breadth, is more accurate in estimating stature. Sexual dimorphism is more pronounced than bilateral differences among Rajbanshi individuals. Using linear regression, it is observed that stature was strongly dependent on foot length and foot breadth. Foot breadth is strongly dependent on foot length. Prediction of stature is more accurate by using step-wise multiple regression. Age

  10. Stature variation in the British American Colonies: French and Indian War records, 1755-1763.

    PubMed

    Steegmann, A T; Haseley, P A

    1988-03-01

    Personnel records kept by military units of American colonials during the French and Indian War (1755-1763) are analyzed for relationships between environmental factors and stature. A robust American economy and direct access to high-quality food were apparently critical to tallness of this white American male sample. American-born men were taller at all ages than those who had migrated from Europe. January temperatures, rural versus urban birth, and ethnicity also showed stature relationships within the American-born group; thermal effects were by far the strongest of the non-nutritional factors.

  11. Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children

    PubMed Central

    Sisley, Stephanie; Trujillo, Marcela Vargas; Khoury, Jane; Backeljauw, Philippe

    2013-01-01

    Objective To determine the incidence of pathology during routine screening of healthy short children, testing adherence to a consensus statement on the diagnosis and treatment of children with idiopathic short stature, and the cost per identified diagnosis resulting from comprehensive screening. Study design Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati Children's Hospital Medical Center Pediatric Endocrinology Clinic between 2008 and 2011. We identified 235 patients with a height of <3rd percentile, negative history and review of systems, and normal physical examination. Outcome measures were incidence of pathology detection, diagnostic group characteristics, clinicians' adherence to testing guidelines, and screening costs. ANOVA and χ2 were used to analyze the data. Results Nearly 99% of patients were diagnosed as possible variants of normal growth: 23% with familial short stature, 41% with constitutional delay of growth and maturation, and 36% with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3%: 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3% of the recommended tests for age and sex; 2.1% of patients had all of the recommended testing. The total screening tests costs were $315 321, yielding $105 107 per new diagnosis entertained. Conclusions Healthy short children do not warrant nondirected, comprehensive screening. Future guidelines for evaluating short stature should include patient-specific testing. PMID:23706358

  12. Physical stature decline and the health status of the elderly population in England.

    PubMed

    Fernihough, Alan; McGovern, Mark E

    2015-01-01

    Few research papers in economics have examined the extent, causes or consequences of physical stature decline in aging populations. Using repeated observations on objectively measured data from the English Longitudinal Study of Aging (ELSA), we document that reduction in height is an important phenomenon among respondents aged 50 and over. On average, physical stature decline occurs at an annual rate of between 0.08% and 0.10% for males, and 0.12% and 0.14% for females-which approximately translates into a 2-4 cm reduction in height over the life course. Since height is commonly used as a measure of long-run health, our results demonstrate that failing to take age-related height loss into account substantially overstates the health advantage of older birth cohorts relative to their younger counterparts. We also show that there is an absence of consistent predictors of physical stature decline at the individual level. However, we demonstrate how deteriorating health and reductions in height occur simultaneously. We document that declines in muscle mass and bone density are likely to be the mechanism through which these effects are operating. If this physical stature decline is determined by deteriorating health in adulthood, the coefficient on measured height when used as an input in a typical empirical health production function will be affected by reverse causality. While our analysis details the inherent difficulties associated with measuring height in older populations, we do not find that significant bias arises in typical empirical health production functions from the use of height which has not been adjusted for physical stature decline. Therefore, our results validate the use of height among the population aged over 50. PMID:24508050

  13. A male-specific quantitative trait locus on 1p21 controlling human stature

    PubMed Central

    Sammalisto, S; Hiekkalinna, T; Suviolahti, E; Sood, K; Metzidis, A; Pajukanta, P; Lilja, H; Soro-Paavonen, A; Taskinen, M; Tuomi, T; Almgren, P; Orho-Melander, M; Groop, L; Peltonen, L; Perola, M

    2005-01-01

    Background: Many genome-wide scans aimed at complex traits have been statistically underpowered due to small sample size. Combining data from several genome-wide screens with comparable quantitative phenotype data should improve statistical power for the localisation of genomic regions contributing to these traits. Objective: To perform a genome-wide screen for loci affecting adult stature by combined analysis of four previously performed genome-wide scans. Methods: We developed a web based computer tool, Cartographer, for combining genetic marker maps which positions genetic markers accurately using the July 2003 release of the human genome sequence and the deCODE genetic map. Using Cartographer, we combined the primary genotype data from four genome-wide scans and performed variance components (VC) linkage analyses for human stature on the pooled dataset of 1417 individuals from 277 families and performed VC analyses for males and females separately. Results: We found significant linkage to stature on 1p21 (multipoint LOD score 4.25) and suggestive linkages on 9p24 and 18q21 (multipoint LOD scores 2.57 and 2.39, respectively) in males-only analyses. We also found suggestive linkage to 4q35 and 22q13 (multipoint LOD scores 2.18 and 2.85, respectively) when we analysed both females and males and to 13q12 (multipoint LOD score 2.66) in females-only analyses. Conclusions: We strengthened the evidence for linkage to previously reported quantitative trait loci (QTL) for stature and also found significant evidence of a novel male-specific QTL on 1p21. Further investigation of several interesting candidate genes in this region will help towards characterisation of this first sex-specific locus affecting human stature. PMID:15827092

  14. X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1

    SciTech Connect

    Raynaud, M.; Dessay, B.; Ayrault, A.D.

    1996-07-12

    Linkage analysis was performed in a family with non-specific X-linked mental retardation (MRX 15). Hypotonia in infancy was the most remarkable physical manifestation. The severity of mental deficiency was variable among the patients, but all of them had poor or absent speech. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS1126, DXS255, and DXS573 (Zmax = 2.01) and recombination was observed with the two flanking loci DXS164 (Xp21.1) and DXS988 (Xp11.22), identifying a 17 cM interval. This result suggests a new gene localization in the proximal Xp region. In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping. 58 refs., 3 figs., 5 tabs.

  15. Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

    PubMed

    Turner, Gillian; Gedeon, Agi; Kerr, Bronwyn; Bennett, Rachael; Mulley, John; Partington, Michael

    2003-03-15

    An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.

  16. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C M; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata J M; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-03-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  17. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    PubMed Central

    Chong, Jessica X.; McMillin, Margaret J.; Shively, Kathryn M.; Beck, Anita E.; Marvin, Colby T.; Armenteros, Jose R.; Buckingham, Kati J.; Nkinsi, Naomi T.; Boyle, Evan A.; Berry, Margaret N.; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C.M.; Kaplan, Paige; Kline, Antonie D.; Mercer, Catherine L.; Nowaczyk, Malgorzata J.M.; Klein Wassink-Ruiter, Jolien S.; McPherson, Elizabeth W.; Moreno, Regina A.; Scheuerle, Angela E.; Shashi, Vandana; Stevens, Cathy A.; Carey, John C.; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K.; Smith, Joshua D.; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; Cooper, Gregory M.; Davis, Colleen P.; Frazar, Christopher; Harrell, Tanya M.; He, Zongxiao; Jain, Preti; Jarvik, Gail P.; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A.; Krumm, Niklas; Leal, Suzanne M.; Luksic, Daniel; Marvin, Colby T.; McMillin, Margaret J.; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W.; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D.; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Bamshad, Michael J.

    2015-01-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with “DA2A with severe neurological abnormalities” and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with “atypical” forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s). PMID:25683120

  18. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    PubMed

    Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul C M; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata J M; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

    2015-03-01

    Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple congenital contractures of the face and limbs and normal cognitive development. We identified a subset of five individuals who had been putatively diagnosed with "DA2A with severe neurological abnormalities" and for whom congenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three cases; this is a unique condition that we now refer to as CLIFAHDD syndrome. Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome. We used molecular-inversion probes to screen for NALCN in a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in ten additional families with "atypical" forms of DA. All 14 mutations were missense variants predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments. In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. In contrast, homozygosity for mutations in other regions of NALCN has been reported in three families affected by an autosomal-recessive condition characterized mainly by hypotonia and severe intellectual disability. Accordingly, mutations in NALCN can cause either a recessive or dominant condition characterized by varied though overlapping phenotypic features, perhaps based on the type of mutation and affected protein domain(s).

  19. Estimation of australopithecine stature from long bones: A.L.288-1 as a test case.

    PubMed

    Geissmann, T

    1986-01-01

    Regression equations for the estimation of stature from long bones, although derived from modern human populations, are frequently applied to early hominids. In fact, some of these equations have even been recommended or especially created to be applied to Australopithecus remains. In this study, 45 sets of regression and correlation formulae, recurrent in anthropological and medico-legal literature, are applied to long bones of the Pliocene hominid A.L.288-1 ('Lucy'), in order to assess which, if any, could be considered suitable for stature reconstruction in 'gracile' australopithecines. Virtually every method based on regression equations overestimates stature as compared with the estimate based on reconstruction of all the preserved skeletal parts. In addition, most methods failed to give consistent results with data from different limb segments. None of the sets of regression formulae tested here can be recommended as a reliable means of stature estimation in 'gracile' australopithecines.

  20. Estimation of australopithecine stature from long bones: A.L.288-1 as a test case.

    PubMed

    Geissmann, T

    1986-01-01

    Regression equations for the estimation of stature from long bones, although derived from modern human populations, are frequently applied to early hominids. In fact, some of these equations have even been recommended or especially created to be applied to Australopithecus remains. In this study, 45 sets of regression and correlation formulae, recurrent in anthropological and medico-legal literature, are applied to long bones of the Pliocene hominid A.L.288-1 ('Lucy'), in order to assess which, if any, could be considered suitable for stature reconstruction in 'gracile' australopithecines. Virtually every method based on regression equations overestimates stature as compared with the estimate based on reconstruction of all the preserved skeletal parts. In addition, most methods failed to give consistent results with data from different limb segments. None of the sets of regression formulae tested here can be recommended as a reliable means of stature estimation in 'gracile' australopithecines. PMID:3108121

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

    PubMed Central

    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 < 0.05) between left and right feet occur in both the foot breadth measurements (BBAL and BHEL). Foot length measurements (T1 to T5 lengths) did not show any statistically significant bilateral asymmetry. The correlation between stature and all the foot measurements was found to be positive and statistically significant (p-value < 0.001). Linear regression models and multiple regression models were derived for estimation of stature from the measurements of the foot. The present study indicates that anthropometric measurements of foot and its segments are valuable in the estimation of stature. Foot length measurements estimate stature with greater accuracy when compared to foot breadth measurements. 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

  2. A longitudinal study of growth and development of stature among prenatally exposed atomic bomb survivors.

    PubMed

    Otake, M; Fujikoshi, Y; Schull, W J; Izumi, S

    1993-04-01

    Growth retardation due to exposure to the atomic bomb has been evaluated using repeated measurements of stature from 10 to 18 years of age. A highly significant growth retardation due to the DS86 uterine dose was observed in all trimesters combined and in the first and second trimesters of pregnancy. In the first trimester, all parameter estimates based on a linear (L) or linear-quadratic (L-Q) dose-response relationship were negative in relation to the DS86 uterine dose. The positive dose estimate in the second trimester is small and close to the control level. Statistically significant difference was determined by a multivariate test statistic examining whether or not a set of two- or three-parameter estimates including a constant term related to an L or L-Q dose-response relationship was different from zero. A radiation-related growth retardation was demonstrable as a longitudinal result of the repeated measurements of stature. The dose effect in the third trimester was not significant under either the L or the L-Q model. The relationship between birth weights and repeated measurements of stature in adolescence is discussed based on the results obtained by a growth curve analysis.

  3. Stature and gender determination and their correlation using odontometry and skull anthropometry

    PubMed Central

    Gupta, Amit; Kumar, Kiran; Shetty, Devi Charan; Wadhwan, Vijay; Jain, Anshi; Khanna, Kaveri Surya

    2014-01-01

    Background: When the body has been mutilated, it is common to have the extremities or head amputated from the trunk. In concern with forensic odontology, an estimate must have been made based on the correlation of osteometry along with odontometry in determining sex, race and stature. Objective: The objective of this study is to investigate and correlate height and gender from odontometry and anthropometric data of the skull. Materials and Methods: The study was conducted in the Department of Oral and Maxillofacial Pathology and Microbiology, I.T.S Center for Dental studies and Research, Muradnagar, Ghaziabad (UP) with the representative study subjects of 60 patients as 30 males and 30 females in the age group of 15-25 years. The selected parameters were measured and then correlated to investigate stature and gender from odontometry and anthropometric data of the skull. Results: On linear regression analysis, the selected parameters were found to be statistically significant predictor of height. It was also established by Karl Pearson's coefficient correlation that the left mandibular canine index for female was statistically significant to show sexual dimorphism. Conclusion: In the emerging field of forensic odontology, skull anthropometry, odontometry exhibits stature determination and strong sexual dimorphism. PMID:25125917

  4. Estimation of stature from diversified hand anthropometric dimensions from Korean population.

    PubMed

    Jee, Soo-Chan; Yun, Myung Hwan

    2015-10-01

    The anthropometric method has served as a useful tool in reducing the amount of time and effort in confirmation of identity. This study is based on a sample of 321 people (167 males and 154 females) from South Korea. Twenty-nine variables including lengths, breadths, thickness, and circumference of their hands and wrists were measured. The body dimension data were analyzed using descriptive statistics. To find the relationship between the various parts of the hand and height, Pearson correlation coefficients for the parts were compared. Further, the single regression and determination coefficient of a regression estimation equation (R(2)) and standard error of estimate (S.E.E) were calculated to compare prediction reliability. Hand length was found to be the variable with the highest correlation to stature in both males (r = 0.628) and females (r = 0.534). For male subjects, hand length (R(2) = 0.398) and palm length (R(2) = 0.358) proved to be the greatest determining factors for the regression equation. For both males and females, an R-square value of 0.643 was obtained with an estimation error of ±5.719 cm by using the derived multiple regressions. In this study single and multiple regression equations were derived for accurate estimation of stature and hand length was found to be the most relevant predictor of stature.

  5. Stature and robusticity during the agricultural transition: evidence from the bioarchaeological record.

    PubMed

    Mummert, Amanda; Esche, Emily; Robinson, Joshua; Armelagos, George J

    2011-07-01

    The population explosion that followed the Neolithic revolution was initially explained by improved health experiences for agriculturalists. However, empirical studies of societies shifting subsistence from foraging to primary food production have found evidence for deteriorating health from an increase in infectious and dental disease and a rise in nutritional deficiencies. In Paleopathology at the Origins of Agriculture (Cohen and Armelagos, 1984), this trend towards declining health was observed for 19 of 21 societies undergoing the agricultural transformation. The counterintuitive increase in nutritional diseases resulted from seasonal hunger, reliance on single crops deficient in essential nutrients, crop blights, social inequalities, and trade. In this study, we examined the evidence of stature reduction in studies since 1984 to evaluate if the trend towards decreased health after agricultural transitions remains. The trend towards a decrease in adult height and a general reduction of overall health during times of subsistence change remains valid, with the majority of studies finding stature to decline as the reliance on agriculture increased. The impact of agriculture, accompanied by increasing population density and a rise in infectious disease, was observed to decrease stature in populations from across the entire globe and regardless of the temporal period during which agriculture was adopted, including Europe, Africa, the Middle East, Asia, South America, and North America. PMID:21507735

  6. Estimation of stature by cephalometric facial dimensions in skeletonized bodies: study from a sample modern Colombians skeletal remains.

    PubMed

    González-Colmenares, Gretel; Medina, César Sanabria; Báez, Liliana Carolina

    2016-01-01

    Estimation of stature is an important factor in the identification of the deceased from unknown fragmentary and dismembered remains. The skull sometimes is the only remain available for identification. The aim of the present study was to estimate the stature of an individual from cephalo-facial dimensions. The study was carried out on 54 males and 16 females from the bone collection of the contemporary Colombian population that belongs to the National Institute of Legal Medicine. Ten cephalo-facial measurements were also made on each subject. The stature of each individual in centimeters was taken from the registration and/or from the autopsy document. The results indicate that the measurements N-M (p<0.001) and G-Op, Ba-N, Ma-SN (p<0.05) are correlated with stature for males. The correlation between these measures with stature for females was not significant. However, the formulae obtained from univariate linear regression analysis using cephalo-facial measurements showed a greater degree of reliability for estimation of stature in males and females.

  7. Stature estimation in Japanese cadavers based on pelvic measurements in three-dimensional multidetector computed tomographic images.

    PubMed

    Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Sakuma, Ayaka; Ishii, Namiko; Hayakawa, Mutsumi; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Iwase, Hirotaro

    2015-05-01

    The aim of this study was to examine the feasibility of stature estimation by measuring the pelvic bones of Japanese cadavers using three-dimensional (3D) computed tomography (CT). We assessed 3D reconstructed images of 210 Japanese subjects (108 males, 102 females) who had undergone postmortem CT between May 2011 and November 2013. We defined the linear distance from the anterosuperior margin of the left and right anterior superior iliac spines (ASIS) to the posterior margin of the left and right ischial spines as the LSS and RSS, respectively. We also defined the linear distance from the anterosuperior margin of the left and right ASIS to the anteroinferior margin of the left and right ischial tuberosities as the LST and RST, respectively. The correlation between the cadaver stature (CS) and each parameter (LSS, LST, RSS, and RST) was evaluated using Pearson product-moment correlation coefficients and regression analysis was performed for stature estimation. All four parameters correlated significantly with stature independent of sex, suggesting that they can be used as a tool for stature estimation. The LST had the closest correlation with stature in both sexes.

  8. Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control

    ERIC Educational Resources Information Center

    Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

  9. Visual-Motor Integration in Children with Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Lo, S. T.; Collin, P. J. L.; Hokken-Koelega, A. C. S.

    2015-01-01

    Background: Prader-Willi syndrome (PWS) is characterised by hypotonia, hypogonadism, short stature, obesity, behavioural problems, intellectual disability, and delay in language, social and motor development. There is very limited knowledge about visual-motor integration in children with PWS. Method: Seventy-three children with PWS aged 7-17 years…

  10. Quality of Life and Psychological Well-Being in GH-Treated, Adult PWS Patients: A Longitudinal Study

    ERIC Educational Resources Information Center

    Bertella, L.; Mori, I.; Grugni, G.; Pignatti, R.; Ceriani, F.; Molinari, E.; Ceccarelli, A.; Sartorio, A.; Vettor, R.; Semenza, C.

    2007-01-01

    Background: Prader-Willi syndrome (PWS) is a congenital alteration of chromosome pair 15. It is characterized by short stature, muscular hypotonia, hyperphagia, obesity, behavioural and emotional disturbances, hypogonadism and partial Growth Hormone (GH) deficiency. The aim of this study was to assess the long-term effect of GH treatment on the…

  11. Cognitive, Emotional, Physical and Social Effects of Growth Hormone Treatment in Adults with Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Hoybye, C; Thoren, M.; Bohm, B.

    2005-01-01

    Prader-Willi syndrome (PWS) is a multisystem genetic disorder characterized by short stature, muscular hypotonia, hyperphagia, obesity, maladaptive behaviour, hypogonadism and partial growth hormone (GH) deficiency (GHD). Severe GHD of other aetiologies has been shown to affect mood and quality of life negatively, and there are reports of…

  12. Estimating stature in fossil hominids: which regression model and reference sample to use?

    PubMed

    Hens, S M; Konigsberg, L W; Jungers, W L

    2000-06-01

    coResearchers have long appreciated the significant relationship between body size and an animal's overall adaptive strategy and life history. However, much more emphasis has been placed on interpreting body size than on the actual calculation of it. One measure of size that is especially important for human evolutionary studies is stature. Despite a long history of investigation, stature estimation remains plagued by two methodological problems: (1) the choice of the statistical estimator, and (2) the choice of the reference population from which to derive the parameters. This work addresses both of these problems in estimating stature for fossil hominids, with special reference to A.L. 288-1 (Australopithecus afarensis) and WT 15000 (Homo erectus). Three reference samples of known stature with maximum humerus and femur lengths are used in this study: a large (n=2209) human sample from North America, a smaller sample of modern human pygmies (n=19) from Africa, and a sample of wild-collected African great apes (n=85). Five regression techniques are used to estimate stature in the fossil hominids using both univariate and multivariate parameters derived from the reference samples: classical calibration, inverse calibration, major axis, reduced major axis and the zero-intercept ratio model. We also explore a new diagnostic to test extrapolation and allometric differences with multivariate data, and we calculate 95% confidence intervals to examine the range of variation in estimates for A.L. 288-1, WT 15000 and the new Bouri hominid (contemporary with [corrected] Australopithecus garhi). Results frequently vary depending on whether the data are univariate or multivariate. Unique limb proportions and fragmented remains complicate the choice of estimator. We are usually left in the end with the classical calibrator as the best choice. It is the maximum likelihood estimator that performs best overall, especially in scenarios where extrapolation occurs away from the mean

  13. Relation of Stature to Outcomes in Korean Patients Undergoing Primary Percutaneous Coronary Intervention for Acute ST-Elevation Myocardial Infarction (from the INTERSTELLAR Registry).

    PubMed

    Moon, Jeonggeun; Suh, Jon; Oh, Pyung Chun; Lee, Kyounghoon; Park, Hyun Woo; Jang, Ho-Jun; Kim, Tae-Hoon; Park, Sang-Don; Kwon, Sung Woo; Kang, Woong Chol

    2016-07-15

    Although epidemiologic studies have shown the impact of height on occurrence and/or prognosis of cardiovascular diseases, the underlying mechanism is unclear. In addition, the relation in patients with ST-segment elevation myocardial infarction (STEMI) who underwent primary percutaneous coronary intervention (PCI) remains unknown. We sought to assess the influence of height on outcomes of patients with acute STEMI undergoing primary PCI and to provide a pathophysiological explanation. All 1,490 patients with STEMI undergoing primary PCI were analyzed. Major adverse cardiac and cerebrovascular events (MACCE) were defined as all-cause mortality, nonfatal myocardial infarction, nonfatal stroke, and unplanned hospitalization for heart failure (HF). Patients were divided into (1) MACCE (+) versus MACCE (-) and (2) first- to third-tertile groups according to height. MACCE (+) group was shorter than MACCE (-) group (164 ± 8 vs 166 ± 8 cm, p = 0.012). Prognostic impact of short stature was significant in older (≥70 years) male patients even after adjusting for co-morbidities (hazard ratio 0.951, 95% confidence interval 0.912 to 0.991, p = 0.017). The first-tertile group showed the worst MACCE-free survival (p = 0.035), and most cases of MACCE were HF (n, 17 [3%] vs 6 [1%] vs 2 [0%], p = 0.004). On post-PCI echocardiography, left atrial volume and early diastolic mitral velocity to early diastolic mitral annulus velocity ratio showed an inverse relation with height (p <0.001 for all) despite similar left ventricular ejection fraction. In conclusion, short stature is associated with occurrence of HF after primary PCI for STEMI, and its influence is prominent in aged male patients presumably for its correlation with diastolic dysfunction.

  14. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism

    PubMed Central

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  15. Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism.

    PubMed

    Tan, Uner

    2014-01-01

    Two consanguineous families with Uner Tan Syndrome (UTS) were analyzed in relation to self-organizing processes in complex systems, and the evolutionary emergence of human bipedalism. The cases had the key symptoms of previously reported cases of UTS, such as quadrupedalism, mental retardation, and dysarthric or no speech, but the new cases also exhibited infantile hypotonia and are designated UTS Type-II. There were 10 siblings in Branch I and 12 siblings in Branch II. Of these, there were seven cases exhibiting habitual quadrupedal locomotion (QL): four deceased and three living. The infantile hypotonia in the surviving cases gradually disappeared over a period of years, so that they could sit by about 10 years, crawl on hands and knees by about 12 years. They began walking on all fours around 14 years, habitually using QL. Neurological examinations showed normal tonus in their arms and legs, no Babinski sign, brisk tendon reflexes especially in the legs, and mild tremor. The patients could not walk in a straight line, but (except in one case) could stand up and maintain upright posture with truncal ataxia. Cerebello-vermial hypoplasia and mild gyral simplification were noted in their MRIs. The results of the genetic analysis were inconclusive: no genetic code could be identified as the triggering factor for the syndrome in these families. Instead, the extremely low socio-economic status of the patients was thought to play a role in the emergence of UTS, possibly by epigenetically changing the brain structure and function, with a consequent selection of ancestral neural networks for QL during locomotor development. It was suggested that UTS may be regarded as one of the unpredictable outcomes of self-organization within a complex system. It was also noted that the prominent feature of this syndrome, the diagonal-sequence habitual QL, generated an interference between ipsilateral hands and feet, as in non-human primates. It was suggested that this may have been

  16. Inequality in Japan (1892-1941): physical stature, income, and health.

    PubMed

    Bassino, Jean-Pascal

    2006-01-01

    This paper investigates the relationship between physical stature, per capita income, health, and regional inequality in Japan at the prefecture-level for the period 1892-1941. The analysis shows that inequality in income and access to health services explains differences in average height of the population across the 47 Japanese prefectures during this period and that variation in income contributed to changes in height during the 1930s. Annual regional time series of height indicate that Japan experienced a regional convergence in biological welfare before 1914, and that a divergence occurred during the interwar period; personal inequality followed a similar pattern.

  17. An alternative approach for estimating stature from long bones that is not population- or group-specific.

    PubMed

    Albanese, John; Tuck, Andrew; Gomes, José; Cardoso, Hugo F V

    2016-02-01

    An accurate and precise estimate of stature can be very useful in the analysis of human remains in forensic cases. A problem with many stature estimation methods is that an unknown individual must first be assigned to a specific group before a method can be applied. Group membership has been defined by sex, age, year of birth, race, ancestry, continental origin, nationality or a combination of these criteria. Univariate and multivariate sex-specific and generic equations are presented here that do not require an unknown individual to be assigned to a group before stature is estimated. The equations were developed using linear regression with a sample (n=244) from the Terry Collection and tested using independent samples from the Forensic Anthropology Databank (n=136) and the Lisbon Collection (n=85). Tests with these independent samples show that (1) the femur provides the best univariate results; (2) the best multivariate equation includes the humerus, femur and tibia lengths; (3) a generic equation that does not require an unknown to first be assigned to a given category provides the best results most often; (4) a population-specific equation does not provide better results for estimating stature; (5) sex-specific equations can provide slightly better results in some cases; however, estimating the wrong sex can have a negative impact on precision and accuracy. With these equations, stature can be estimated independently of age at death, sex or group membership. PMID:26750990

  18. Anthropometric measurements of the arm span and their correlation with the stature of bangladeshi adult muslim females.

    PubMed

    Laila, S Z; Begum, J A; Ferdousi, R; Parveen, S; Husain, M S; Holy, S Z; Islam, M S

    2010-10-01

    Anthropometry is the science that deals with the measurement of size, weight and proportion of the human body. Stature is natural heights of a person in an upright position. This can be estimated from arm span length. In the last 50 years of the 20th century various mass disasters such as different powerful storm, flood, plane crash, train accident was increased. Very recently in Chittagong and southern Bangladesh many people were killed through land slides and Seder. As so many disasters were occurring it is possible to identify a missing person if a part of his or her body is available. The arm span lengths can be used as a basis for estimating age-related loss in stature and as an alternative measure to stature. The study was done for the estimation of stature from the arm span on one hundred and fifty Bangladeshi adult Muslim females. Subject was collected from Bangabandhu Sheikh Mujib Medical University, Dhaka and some urban region of Dhaka, Bangladesh. The present study showed significant (p<0.001) positive correlation between the stature and the arm span. PMID:20956900

  19. Stature estimation based on measurements of the sternal medullary cavity using multidetector computed tomography images of Japanese cadavers.

    PubMed

    Torimitsu, Suguru; Makino, Yohsuke; Saitoh, Hisako; Sakuma, Ayaka; Ishii, Namiko; Hayakawa, Mutsumi; Yajima, Daisuke; Inokuchi, Go; Motomura, Ayumi; Chiba, Fumiko; Iwase, Hirotaro

    2014-09-01

    Stature estimation using a skeleton is important for the medicolegal investigation of unidentified human remains. The aims of this study were to identify a correlation between stature and measurements of the sternal medullary cavity using multidetector computed tomography (MDCT) and derive regression equations for stature estimation in the Japanese population. Measurements were conducted on 215 Japanese subjects (107 males, 108 females) who underwent postmortem computed tomography with subsequent forensic autopsy between May 2012 and January 2014. For assessment, MDCT cross-sections through the mid-point of the first costal facets were chosen. The length of a rising diagonal stroke from the bottom left to the top right of the sternal medullary cavity (RS) and the length of a falling diagonal stroke from top left to bottom right of the sternal medullary cavity (FS) were measured. Statistical analyses indicated that both RS and FS were positively correlated with stature regardless of sex. The correlations were stronger for males than for females. The correlation coefficients for RS were higher than those for FS, and standard errors of estimation calculated by regression analysis using RS were lower than those using FS regardless of sex. Measurement of the sternal medullary cavity using MDCT images may be a potentially useful tool for stature estimation, particularly in cases where better predictors such as long bones are not available. PMID:25082372

  20. Cyclist drag in team pursuit: influence of cyclist sequence, stature, and arm spacing.

    PubMed

    Defraeye, Thijs; Blocken, Bert; Koninckx, Erwin; Hespel, Peter; Verboven, Pieter; Nicolai, Bart; Carmeliet, Jan

    2014-01-01

    In team pursuit, the drag of a group of cyclists riding in a pace line is dependent on several factors, such as anthropometric characteristics (stature) and position of each cyclist as well as the sequence in which they ride. To increase insight in drag reduction mechanisms, the aerodynamic drag of four cyclists riding in a pace line was investigated, using four different cyclists, and for four different sequences. In addition, each sequence was evaluated for two arm spacings. Instead of conventional field or wind tunnel experiments, a validated numerical approach (computational fluid dynamics) was used to evaluate cyclist drag, where the bicycles were not included in the model. The cyclist drag was clearly dependent on his position in the pace line, where second and subsequent positions experienced a drag reduction up to 40%, compared to an individual cyclist. Individual differences in stature and position on the bicycle led to an intercyclist variation of this drag reduction at a specific position in the sequence, but also to a variation of the total drag of the group for different sequences. A larger drag area for the group was found when riding with wider arm spacing. Such numerical studies on cyclists in a pace line are useful for determining the optimal cyclist sequence for team pursuit.

  1. Stature, migration and human welfare in South China, 1850-1930.

    PubMed

    Ward, W Peter

    2013-12-01

    This paper offers new evidence on human stature in south China during the second half of the 19th century and early part of the 20th. It is based on the records kept by the Government of Canada of 97,123 Chinese immigrants who were required to pay an entry tax between 1885 and 1949. While the study population included both sexes and all ages from infancy to old age, it was largely male, with most ages falling between 12 and 50. The data reveal an increase of over 4cm in the adult heights of both sexes between 1850 and 1930. They also indicate an upward trend of over 5cm in the heights of adolescent males. The mean heights of male immigrants fall in the lower range of those reported in other studies of stature in south China. The rising trends contrast with a pattern of stagnation and decline reported in other recent findings but are consistent with other recent evidence of increasing economic growth, real wages, and life expectancy in south China during this period. One likely cause of improved well-being is the influence of the migrants' remittances on socioeconomic change in south China.

  2. Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice

    PubMed Central

    Stalman, Susanne E.; Pons, Anke; Wit, Jan M.; Kamp, Gerdine A.; Plötz, Frans B.

    2015-01-01

    Objective: No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for tall stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referred for tall stature, to identify potential candidates for adult height reduction, and to use these observations for developing a simple algorithm for diagnostic work-up and follow-up in clinical practice. Methods: Data regarding family and medical history, auxological measurements, bone age development, physical examination, additional diagnostic work-up, and final diagnosis were collected from all children referred for tall stature, irrespective of their actual height standard deviation score (HSDS). Predicted adult height (PAH) was calculated in children above 10 years. Characteristics of patients with an indication for adult height reduction were determined. Results: Hundred thirty-two children (43 boys) with a mean ± SD age of 10.9±3.2 (range 0.5-16.9) years were included in the study. Fifty percent of the referred children had an HSDS ≤2.0 (n=66). Two pathological cases (1.5%) were found (HSDS 2.3 and 0.9). Tall children without pathology were diagnosed as idiopathic tall, further classified as familial tall stature (80%), constitutional advancement of growth (5%), or unexplained non-familial tall stature (15%). Of the 74 children in whom PAH was calculated, epiphysiodesis was considered in six (8%) and performed in four (5%) patients. Conclusion: The incidence of pathology was very low in children referred for tall stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice. PMID:26777036

  3. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

    PubMed Central

    Say, B; Barber, N; Miller, G C; Grogg, S E

    1986-01-01

    Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised. Images PMID:3746838

  4. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.

    PubMed

    Leduc, Magalie S; Niu, Zhiyv; Bi, Weimin; Zhu, Wenmiao; Miloslavskaya, Irene; Chiang, Theodore; Streff, Haley; Seavitt, John R; Murray, Stephen A; Eng, Christine; Chan, Audrey; Yang, Yaping; Lalani, Seema R

    2016-08-01

    Mutations in CRIPT encoding cysteine-rich PDZ domain-binding protein are rare, and to date have been reported in only two patients with autosomal recessive primordial dwarfism and distinctive facies. Here, we describe a female with biallelic mutations in CRIPT presenting with postnatal growth retardation, global developmental delay, and dysmorphic features including frontal bossing, high forehead, and sparse hair and eyebrows. Additional clinical features included high myopia, admixed hyper- and hypopigmented macules primarily on the face, arms, and legs, and syndactyly of 4-5 toes bilaterally. Using whole exome sequencing (WES) and chromosomal microarray analysis (CMA), we detected a c.8G>A (p.C3Y) missense variant in exon 1 of the CRIPT gene inherited from the mother and a 1,331 bp deletion encompassing exon 1, inherited from the father. The c.8G>A (p.C3Y) missense variant in CRIPT was apparently homozygous in the proband due to the exon 1 deletion. Our findings illustrate the clinical utility of combining WES with copy number variant (CNV) analysis to provide a molecular diagnosis to patients with rare Mendelian disorders. Our findings also illustrate the clinical spectrum of CRIPT related mutations. © 2016 Wiley Periodicals, Inc. PMID:27250922

  5. Familial C/G Translocation in Three Relatives Associated with Severe Mental Retardation, Short Stature, Unusual Dermatoglyphics and Other Malformations

    ERIC Educational Resources Information Center

    Yanagisawa, S.; Hiraoka, K.

    1971-01-01

    Three case studies of patients (relatives) suffering from a chromosomal aberration (translocation between one of the C group chromosomes and one of the G group chromosomes) resulting in severe mental retardation and skin malformations are reported. It was suggested that the anomaly is hereditary in nature (CD)

  6. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

    PubMed

    Dauber, Andrew; Muñoz-Calvo, María T; Barrios, Vicente; Domené, Horacio M; Kloverpris, Soren; Serra-Juhé, Clara; Desikan, Vardhini; Pozo, Jesús; Muzumdar, Radhika; Martos-Moreno, Gabriel Á; Hawkins, Federico; Jasper, Héctor G; Conover, Cheryl A; Frystyk, Jan; Yakar, Shoshana; Hwa, Vivian; Chowen, Julie A; Oxvig, Claus; Rosenfeld, Ron G; Pérez-Jurado, Luis A; Argente, Jesús

    2016-01-01

    Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high-affinity IGF-binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) that is hypothesized to increase IGF-I bioactivity by specific proteolytic cleavage of IGFBP-3 and -5. Multiple members of two unrelated families presented with progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density and elevated circulating total IGF-I, IGFBP-3, and -5, acid labile subunit, and IGF-II concentrations. Two different homozygous mutations in PAPPA2, p.D643fs25* and p.Ala1033Val, were associated with this novel syndrome of growth failure. In vitro analysis of IGFBP cleavage demonstrated that both mutations cause a complete absence of PAPP-A2 proteolytic activity. Size-exclusion chromatography showed a significant increase in IGF-I bound in its ternary complex. Free IGF-I concentrations were decreased. These patients provide important insights into the regulation of longitudinal growth in humans, documenting the critical role of PAPP-A2 in releasing IGF-I from its BPs. PMID:26902202

  7. The effects of socioeconomic status and short stature on overweight, obesity and the risk of metabolic complications in adults

    PubMed Central

    Restrepo, Alejandro Estrada; Rueda, Juan Diego Gomez; Aguirre, Cristina Carreño; López, Lorena Patricia Mancilla

    2013-01-01

    Objective: to observe the relationship between socioeconomic status, height and nutritional problems related to obesity, overweight and risk of metabolic complications in men and women of Medellin (Colombia). Methods: cross-sectional study with a sample of 5556 adults between 18 and 69 years of age. We assessed weight, height and waist circumference. Socioeconomic variables were evaluated by family income, socioeconomic stratum and academic level achieved. Results: we found that in men and women the height reached in adulthood is associated with socioeconomic conditions as measured by the socioeconomic strata and family income. In women, height, age, and socioeconomic strata are associated with obesity, overweight and risk of obesity, and risk of metabolic complications. Conclusion: These results are not only from individual unhealthy habits, such as eating patterns based on high density foods combined with low energy expenditure, but also from the cumulative effect of food deprivation throughout life. Therefore, policies intended to prevent them should take a preventive approach that begins before birth and continues during childhood and adulthood. PMID:24892612

  8. In Italy, North-South Differences in IQ Predict Differences in Income, Education, Infant Mortality, Stature, and Literacy

    ERIC Educational Resources Information Center

    Lynn, Richard

    2010-01-01

    Regional differences in IQ are presented for 12 regions of Italy showing that IQs are highest in the north and lowest in the south. Regional IQs obtained in 2006 are highly correlated with average incomes at r = 0.937, and with stature, infant mortality, literacy and education. The lower IQ in southern Italy may be attributable to genetic…

  9. On the relationship between stature and anthropometric measurements of lumbar vertebrae.

    PubMed

    Klein, Anke; Nagel, Katrin; Gührs, Julian; Poodendaen, Chanasorn; Püschel, Klaus; Morlock, Michael M; Huber, Gerd

    2015-12-01

    Stature estimation is important for identifying human remains. Analysis of body parts has become an important forensic tool during global operations in the context of cases in which human remains have been dismembered, mutilated or decomposed. However, unless almost the full skeleton or at least a long bone of the lower limb is available, accuracy is still limited to approximate body height. Especially with respect to single vertebral measurements, only a rough prediction is possible. Due to their complex geometry, vertebral measurements are possible at various locations. Nine locations have been considered in this study. Regression equations for stature estimation using lumbar vertebral geometry from computed tomography scans have been evaluated to identify the measurement which gives the most reliable body height estimation. The study group comprised a representative sample of a German metropolitan male population (42 autopsied individuals). Comparing the influence of various vertebral geometry measurements with body height resulted in a coefficient of correlation (R) of 0.19-0.53 and a 95% confidence interval (CI) of ± 11.6 up to ± 13.1cm. The largest correlation with a single vertebral measurement was achieved with the central height of the vertebral body of L2 as predictor; the standard error (SE) of the estimate was 5.9 cm. Using models from CT scans appeared superior to current invasive procedures that use direct measurements of the vertebral body, in terms of reproducibility and time efficiency. For fragmented non-skeletonized human bodies, height prediction based on an all-virtual model of the vertebrae is possible. However, the regression coefficient may be similar to classic caliper measurements that prove easier if skeletonized bones are available.

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

    PubMed Central

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

    2013-01-01

    BACKGROUND/OBJECTIVES: 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. STUDY DESIGN: 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. RESULTS: Fax communication resulted in growth curves being provided more often (95.6% of cases versus 40.5% of cases without fax communication [P<0.001]) and more investigations being performed by the referring physician (median [range]: six [zero to 13] investigations versus one [zero to 11]; P<0.001), as well as a diagnosis of nonpathological short 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%). CONCLUSION: 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. PMID:24497780

  11. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

    PubMed

    D'Angelo, Carla S; Da Paz, José A; Kim, Chong A; Bertola, Débora R; Castro, Claudia I E; Varela, Monica C; Koiffmann, Célia P

    2006-01-01

    Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed psychomotor development and/or MR, hypotonia, epilepsy, hearing loss, growth delay, microcephaly, deep-set eyes, flat nasal bridge and pointed chin. Besides, a Prader-Willi syndrome (PWS)-like phenotype has been described in patients with 1p36 monosomy. Forty-one patients presenting hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who tested negative for PWS were investigated by FISH and/or microsatellite markers. Twenty-six were analyzed with a 1p-specific subtelomeric probe, and one terminal deletion was identified. Thirty patients (15 of which also studied by FISH) were investigated by microsatellite markers, and no interstitial 1p36 deletion was found. Our patient presenting the 1p36 deletion did not have the striking features of this monosomy, but her clinical and behavioral features were quite similar to those observed in patients with PWS, except for the presence of normal sucking at birth. The extent of the deletion could be limited to the most terminal 2.5 Mb of 1p36, within the chromosomal region 1p36.33-1p36.32, that is smaller than usually seen in monosomy 1p36 patients. Therefore, chromosome 1p36.33 deletion should be investigated in patients with hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who test negative for PWS.

  12. What can variation in stature reveal about environmental differences between prehistoric Jomon foragers? Understanding the impact of systemic stress on developmental stability.

    PubMed

    Temple, Daniel H

    2008-01-01

    This study reconstructs patterns of stress and phenotypic variation in prehistoric Japan. Greater evidence for stress is indicated by elevated enamel hypoplasia frequency among Jomon foragers from western compared to eastern Japan. Geographic variation in stress between Jomon people is related to plant-based diets and resource scarcity in western Japan. The hypothesis that Jomon people from western Japan had shorter stature than those from the east is, therefore, tested. Relationships between individual stature, geographic location, and enamel hypoplasia presence/absence are also explored. In addition, increased population density and reliance on plant foods are observed during the Late/Final Jomon period in western Japan. A second hypothesis proposing shorter stature for Late/Final Jomon people compared to those from the Middle Jomon period is tested. Statistically significant differences in stature between males and females from eastern and western Japan were not observed. Individual relationships between enamel hypoplasia and stature were rejected. Stature decreased significantly over time in western Japan. It is possible that stature between the eastern and western Jomon did not differ because the western Jomon experienced catch up growth after childhood stress episodes. It is also likely that variation in stress between the two groups was not severe enough to warrant stature reduction. Decreases in stature through time in western Japan are related to increased exposure to chronic infection and dietary stress. Overall, these results indicate that enamel hypoplasia frequencies provide an adequate index of general stress but may fail to predict the impact of stress on the human phenotype. PMID:18348169

  13. Early-life environment and adult stature in Brazil: an analysis for cohorts born between 1950 and 1980.

    PubMed

    de Oliveira, Victor Hugo; Quintana-Domeque, Climent

    2014-12-01

    We study the relationship between environmental conditions at birth (GDP per capita and infant mortality rate) and adult stature using cohort-state level data in Brazil for the period 1950-1980. We find that GDP per capita, whose annual percentage growth rate was 4.8% during this period, not infant mortality rate, is a robust correlate of population stature in Brazil. Our results are robust to a battery of robustness checks. Using a useful bracketing property of the (state) fixed effects and lagged dependent variables (heights) estimators, we find that an increase in GDP per capita of the magnitude corresponding to that period is associated with 43-68% of the increase in adult height occurring in the same time span. Income, not disease, appears to be the main correlate of Brazilian population heights in the second half of the 20th Century.

  14. Mate choice and human stature: homogamy as a unified framework for understanding mating preferences.

    PubMed

    Courtiol, Alexandre; Raymond, Michel; Godelle, Bernard; Ferdy, Jean-Baptiste

    2010-08-01

    Assortative mating for human height has long attracted interest in evolutionary biology, and the phenomenon has been demonstrated in numerous human populations. It is often argued that mating preferences generate this pattern, but other processes can also induce trait correlations between mates. Here, we present a methodology tailored to quantify continuous preferences based on choice experiments between pairs of stimuli. In particular, it is possible to explore determinants of interindividual variations in preferences, such as the height of the chooser. We collected data from a sample of 200 individuals from France. Measurements obtained show that the perception of attractiveness depends on both the height of the stimuli and the stature of the individual who judged them. Therefore, this study demonstrates that homogamy is present at the level of preferences for both sexes. We also show that measurements of the function describing this homogamy are concordant with several distinct mating rules proposed in the literature. In addition, the quantitative approach introduced here fulfills metrics that can be used to compare groups of individuals. In particular, our results reveal an important disagreement between sexes regarding height preferences in the context of mutual mate choice. Finally, both women and men prefer individuals who are significantly taller than average. All major findings are confirmed by a reanalysis of previously published data.

  15. Does natural selection favour taller stature among the tallest people on earth?

    PubMed

    Stulp, Gert; Barrett, Louise; Tropf, Felix C; Mills, Melinda

    2015-05-01

    The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands (n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935-1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall. PMID:25854890

  16. Does natural selection favour taller stature among the tallest people on earth?

    PubMed

    Stulp, Gert; Barrett, Louise; Tropf, Felix C; Mills, Melinda

    2015-05-01

    The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands (n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935-1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall.

  17. Growth in stature in fragile X families: A mixed longitudinal study

    SciTech Connect

    Loesch, D.Z.; Huggins, R.M.; Hoang, N.H.

    1995-09-11

    The effect of fragile X on growth in stature was estimated in individuals aged 5-20 years from 50 fragile X families. The multivariate normal model for pedigree analysis was applied to the mixed longitudinal data, which varied with regard to intervals between the measurements and their number in individual subjects, totalling 349 measurement data points from fragile X families, and 292 data points from unrelated normal subjects. The results of genetic and regression analysis showed that, in fragile X boys and girls, total pubertal height gain is impaired, whereas the rate of growth during the preadolescent period is increased, compared with the growth rate of nonfragile X subjects. Moreover, the growth parameters in fragile X males were found to be correlated with the size of CGG trinucleotide expansion. The hypothesis of premature activation of the hypothalamo-pituitary gonadal axis is postulated as the cause of growth impairment in fragile X boys and girls, which should be verified by data on the timing of pubertal stages, hormone levels, and bone maturation. 33 refs., 2 figs., 3 tabs.

  18. The use of computerized tomography in determining stature and sex from metatarsal bones.

    PubMed

    Rodríguez, Sonia; González, Antonio; Simón, Antía; Rodríguez-Calvo, María S; Febrero-Bande, Manuel; Cordeiro, Cristina; Muñoz-Barús, José I

    2014-09-01

    This study evaluates the efficacy of a radiological method to estimate stature from measurements of the first and second metatarsal taken from a collection of metatarsals of a Portuguese Caucasian population in which the measurements were made directly on the bone. The highest coefficient of determination and the lowest standard error were obtained with the physiological length of the second metatarsal (F2), using the equation S=895.4803+10.7848F2. The linear regressions obtained show significant differences between the estimated heights from M1. In addition, we offer a simple method for sex determination based on the maximum length (M1) and width (W1) of the first metatarsal, where W1=x1; (M1/W1)=x2; β0=55.4767; β1=-2.5796 and β2=-4.6898. Here we present a method of measurement using computerized tomography that enables population studies using live volunteers without incurring the difficulties of on the bone measurement.

  19. Estimating adult stature from radiographically determined metatarsal length in a Spanish population.

    PubMed

    Rodríguez, Sonia; Miguéns, Xoán; Rodríguez-Calvo, María S; Febrero-Bande, Manuel; Muñoz-Barús, José I

    2013-03-10

    The ability to determine height in adult life can be crucial in the identification of skeletal remains. Very often, the small bones found among such remains are not only the most numerous, but also the best preserved, a fact which calls for more research into developing methods to estimate height from metatarsals. The aim of this paper is to verify the use of the dimensions of the metatarsals as estimators of adult height in a Spanish population using radiologically determined metatarsal lengths and to propose regression equations and test the formulae for determining adult stature. The present research is based on a study of 228 healthy Caucasoid adults from Galicia (NW Spain). The first and second metatarsals of the left foot were measured by a dorso-plantar X-ray using a digital medical image viewer. The best correlation obtained was with the maximum length of the 1st metatarsal for males. The corresponding regression equation is as follows: S=819.88+12.79 M1. A comparison of our statistical results with those of neighbouring population groups indicates that ours is more accurate. This must be due to the so-called specificity of regression equations in relation to the series on the base from which they were developed.

  20. Comparing the Relationship Between Stature and Later Life Health in Six Low and Middle Income Countries

    PubMed Central

    McGovern, Mark E.

    2014-01-01

    This paper examines the relationship between stature and later life health in 6 emerging economies, each of which are expected to experience significant increases in the mean age of their populations over the coming decades. Using data from the WHO Study on Global Ageing and Adult Health (SAGE) and pilot data from the Longitudinal Ageing Study in India (LASI), I show that various measures of health are associated with height, a commonly used proxy for childhood environment. In the pooled sample, an additional 10cm increase in height is associated with between a 2 and 3 percentage point increase in the probability of being in very good or good self-reported health, a 3 percentage point increase in the probability of reporting no difficulties with activities of daily living or instrumental activities of daily living, and between a fifth and a quarter of a standard deviation increase in grip strength and lung function. Adopting a methodology previously used in the research on inequality, I also summarise the height-grip strength gradient for each country using the concentration index, and provide a decomposition analysis. PMID:25590021

  1. Does natural selection favour taller stature among the tallest people on earth?

    PubMed Central

    Stulp, Gert; Barrett, Louise; Tropf, Felix C.; Mills, Melinda

    2015-01-01

    The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands (n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935–1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall. PMID:25854890

  2. Facial Indices of North and South Indian Adults: Reliability in Stature Estimation and Sexual Dimorphism

    PubMed Central

    LC, Prasanna; S, Bhosale; AS, D’Souza; H, Mamatha; RH, Thomas; KS, Sachin

    2013-01-01

    Introduction: Anthropological studies have document differences in craniofacial features as well as in body characteristics among different populations. The variations in the facial morphology arise through a differential growth and they help us in distinguishing one person from another. These are controlled by a number of factors which include genetic heritage, climate and environment in which we live. Very few researchers from India have worked on these facial features with respect to population and environment. The present work was undertaken to determine whether facial variations were subjected to sexual dimorphism. In addition, comparison of facial indices was made, in order to determine possible variations between south and north Indian populations. Methods: The sample consisted of 200 individuals, 100 each from north and south Indian regions. Various facial parameters were determined on the basis of international anatomical description and facial indices were calculated. Results: North Indian males and females had highest facial height and upper facial height. Facial width of south Indians was more as compared to that of north Indians in both sexes. Regression equation was calculated to compare the probable height with actual height. Conclusion: All the facial parameters and facial indices were found to be statistically highly significant and they showed inter-regional and gender variations. These indices will be beneficial in facial reconstruction surgeries, maxillofacial surgeries, and in forensic medicine, for estimating the stature and sex of an individual. PMID:24086833

  3. Composite Selection Signals for Complex Traits Exemplified Through Bovine Stature Using Multibreed Cohorts of European and African Bos taurus.

    PubMed

    Randhawa, Imtiaz A S; Khatkar, Mehar S; Thomson, Peter C; Raadsma, Herman W

    2015-07-01

    Understanding the evolution and molecular architecture of complex traits is important in domestic animals. Due to phenotypic selection, genomic regions develop unique patterns of genetic diversity called signatures of selection, which are challenging to detect, especially for complex polygenic traits. In this study, we applied the composite selection signals (CSS) method to investigate evidence of positive selection in a complex polygenic trait by examining stature in phenotypically diverse cattle comprising 47 European and 8 African Bos taurus breeds, utilizing a panel of 38,033 SNPs genotyped on 1106 animals. CSS were computed for phenotypic contrasts between multibreed cohorts of cattle by classifying the breeds according to their documented wither height to detect the candidate regions under selection. Using the CSS method, clusters of signatures of selection were detected at 26 regions (9 in European and 17 in African cohorts) on 13 bovine autosomes. Using comparative mapping information on human height, 30 candidate genes mapped at 12 selection regions (on 8 autosomes) could be linked to bovine stature diversity. Of these 12 candidate gene regions, three contained known genes (i.e., NCAPG-LCORL, FBP2-PTCH1, and PLAG1-CHCHD7) related to bovine stature, and nine were not previously described in cattle (five in European and four in African cohorts). Overall, this study demonstrates the utility of CSS coupled with strategies of combining multibreed datasets in the identification and discovery of genomic regions underlying complex traits. Characterization of multiple signatures of selection and their underlying candidate genes will elucidate the polygenic nature of stature across cattle breeds. PMID:25931611

  4. Composite Selection Signals for Complex Traits Exemplified Through Bovine Stature Using Multibreed Cohorts of European and African Bos taurus

    PubMed Central

    Randhawa, Imtiaz A. S.; Khatkar, Mehar S.; Thomson, Peter C.; Raadsma, Herman W.

    2015-01-01

    Understanding the evolution and molecular architecture of complex traits is important in domestic animals. Due to phenotypic selection, genomic regions develop unique patterns of genetic diversity called signatures of selection, which are challenging to detect, especially for complex polygenic traits. In this study, we applied the composite selection signals (CSS) method to investigate evidence of positive selection in a complex polygenic trait by examining stature in phenotypically diverse cattle comprising 47 European and 8 African Bos taurus breeds, utilizing a panel of 38,033 SNPs genotyped on 1106 animals. CSS were computed for phenotypic contrasts between multibreed cohorts of cattle by classifying the breeds according to their documented wither height to detect the candidate regions under selection. Using the CSS method, clusters of signatures of selection were detected at 26 regions (9 in European and 17 in African cohorts) on 13 bovine autosomes. Using comparative mapping information on human height, 30 candidate genes mapped at 12 selection regions (on 8 autosomes) could be linked to bovine stature diversity. Of these 12 candidate gene regions, three contained known genes (i.e., NCAPG-LCORL, FBP2-PTCH1, and PLAG1-CHCHD7) related to bovine stature, and nine were not previously described in cattle (five in European and four in African cohorts). Overall, this study demonstrates the utility of CSS coupled with strategies of combining multibreed datasets in the identification and discovery of genomic regions underlying complex traits. Characterization of multiple signatures of selection and their underlying candidate genes will elucidate the polygenic nature of stature across cattle breeds. PMID:25931611

  5. Directional dominance on stature and cognition in diverse human populations.

    PubMed

    Joshi, Peter K; Esko, Tonu; Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U; Schurmann, Claudia; Smith, Albert V; Zhang, Weihua; Okada, Yukinori; Stančáková, Alena; Faul, Jessica D; Zhao, Wei; Bartz, Traci M; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I; O'Connel, Jeffrey R; Corre, Tanguy; Nongmaithem, Suraj S; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K; Yanek, Lisa R; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A; McLeod, Olga; Cornelis, Marilyn C; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R B; Cappellani, Stefania; Mirza, Saira S; Benton, Miles C; Broeckel, Ulrich; Medland, Sarah E; Lind, Penelope A; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F; Zhi, Degui; van der Most, Peter J; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W; Bradfield, Jonathan P; Wood, Andrew R; Bonnefond, Amelie; Ahluwalia, Tarunveer S; Hall, Leanne M; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G; Abney, Mark; Afzal, Uzma; Allison, Matthew A; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Barr, R Graham; Baumeister, Sebastian E; Benjamin, Daniel J; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J; Chen, Constance; Chen, Y-D Ida; Collins, Francis S; Connell, John; Correa, Adolfo; Cupples, L Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B; Feenstra, Bjarke; Feitosa, Mary F; Ford, Ian; Fox, Caroline S; Frayling, Timothy M; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J; Harris, Sarah E; Harris, Tamara B; Hastie, Nicholas D; Heard-Costa, Nancy L; Heikkilä, Kauko; Hocking, Lynne J; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E; Hysi, Pirro G; Ikram, M Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M; Khan, Nazir M; Koellinger, Philipp; Koistinen, Heikki A; Kooner, Manraj K; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J; Lea, Rodney A; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C M; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J; Loomis, Stephanie J; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A; Matsuda, Koichi; Meigs, James B; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D; Mihailov, Evelin; Milani, Lili; Montasser, May E; Montgomery, Grant W; Morrison, Alanna; Myers, Richard H; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S; Nolte, Ilja M; O'Connor, George T; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R; Pankow, James S; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J; Scott, William R; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H; Smith, Jennifer A; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V; Stathopoulou, Maria G; Strauch, Konstantin; Strawbridge, Rona J; Suderman, Matthew J; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D; Tayo, Bamidele O; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B; Wentworth-Shields, William; Whitfield, John B; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Salem, Rany M; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J; Cusi, Daniele; Mackey, David A; Cooper, Richard S; Froguel, Philippe; Pasterkamp, Gerard; Grant, Struan F A; Hakonarson, Hakon; Ferrucci, Luigi; Scott, Robert A; Morris, Andrew D; Palmer, Colin N A; Dedoussis, George; Deloukas, Panos; Bertram, Lars; Lindenberger, Ulman; Berndt, Sonja I; Lindgren, Cecilia M; Timpson, Nicholas J; Tönjes, Anke; Munroe, Patricia B; Sørensen, Thorkild I A; Rotimi, Charles N; Arnett, Donna K; Oldehinkel, Albertine J; Kardia, Sharon L R; Balkau, Beverley; Gambaro, Giovanni; Morris, Andrew P; Eriksson, Johan G; Wright, Margie J; Martin, Nicholas G; Hunt, Steven C; Starr, John M; Deary, Ian J; Griffiths, Lyn R; Tiemeier, Henning; Pirastu, Nicola; Kaprio, Jaakko; Wareham, Nicholas J; Pérusse, Louis; Wilson, James G; Girotto, Giorgia; Caulfield, Mark J; Raitakari, Olli; Boomsma, Dorret I; Gieger, Christian; van der Harst, Pim; Hicks, Andrew A; Kraft, Peter; Sinisalo, Juha; Knekt, Paul; Johannesson, Magnus; Magnusson, Patrik K E; Hamsten, Anders; Schmidt, Reinhold; Borecki, Ingrid B; Vartiainen, Erkki; Becker, Diane M; Bharadwaj, Dwaipayan; Mohlke, Karen L; Boehnke, Michael; van Duijn, Cornelia M; Sanghera, Dharambir K; Teumer, Alexander; Zeggini, Eleftheria; Metspalu, Andres; Gasparini, Paolo; Ulivi, Sheila; Ober, Carole; Toniolo, Daniela; Rudan, Igor; Porteous, David J; Ciullo, Marina; Spector, Tim D; Hayward, Caroline; Dupuis, Josée; Loos, Ruth J F; Wright, Alan F; Chandak, Giriraj R; Vollenweider, Peter; Shuldiner, Alan R; Ridker, Paul M; Rotter, Jerome I; Sattar, Naveed; Gyllensten, Ulf; North, Kari E; Pirastu, Mario; Psaty, Bruce M; Weir, David R; Laakso, Markku; Gudnason, Vilmundur; Takahashi, Atsushi; Chambers, John C; Kooner, Jaspal S; Strachan, David P; Campbell, Harry; Hirschhorn, Joel N; Perola, Markus; Polašek, Ozren; Wilson, James F

    2015-07-23

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human

  6. Stature, body mass, and brain size: a two-million-year odyssey.

    PubMed

    Gallagher, Andrew

    2013-12-01

    Physical size has been critical in the evolutionary success of the genus Homo over the past 2.4 million-years. An acceleration in the expansion of savannah grasslands in Africa from 1.6Ma to 1.2Ma witnessed concomitant increases in physical stature (150-170cm), weight (50-70kg), and brain size (750-900cm(3)). With the onset of 100,000year Middle Pleistocene glacial cycles ("ice ages") some 780,000years ago, large-bodied Homo groups had reached modern size and had successfully dispersed from equatorial Africa, Central, and Southeast Asia to high-latitude localities in Atlantic Europe and North East Asia. While there is support for incursions of multiple Homo lineages to West Asia and Continental Europe at this time, data does not favour a persistence of Homo erectus beyond ∼400,000years ago in Africa, west and Central Asia, and Europe. Novel Middle Pleistocene Homo forms (780,000-400,000years) may not have been substantially taller (150-170cm) than earlier Homo (1.6Ma-800,000years), yet brain size exceeded 1000cm(3) and body mass approached 80kg in some males. Later Pleistocene Homo (400,000-138,000years) were 'massive' in their height (160-190cm) and mass (70-90kg) and consistently exceed recent humans. Relative brain size exceeds earlier Homo, yet is substantially lower than in final glacial H. sapiens and Homo neanderthalensis. A final leap in absolute and relative brain size in Homo (300,000-138,000years) occurred independent of any observed increase in body mass and implies a different selective mediator to that operating on brain size increases observed in earlier Homo. PMID:23562520

  7. Fine root respiration in the mangrove Rhizophora mangle over variation in forest stature and nutrient availability.

    PubMed

    Lovelock, Catherine E; Ruess, Roger W; Feller, Ilka C

    2006-12-01

    Root respiration uses a significant proportion of photosynthetically fixed carbon (C) and is a globally important source of C liberated from soils. Mangroves, which are an important and productive forest resource in many tropical and subtropical countries, sustain a high ratio of root to shoot biomass which may indicate that root respiration is a particularly important component in mangrove forest carbon budgets. Mangroves are often exposed to nutrient pollution from coastal waters. Here we assessed the magnitude of fine root respiration in mangrove forests in Belize and investigated how root respiration is influenced by nutrient additions. Respiration rates of excised fine roots of the mangrove, Rhizophora mangle L., were low (4.01 +/- 0.16 nmol CO(2) g(-1) s(-1)) compared to those measured in temperate tree species at similar temperatures. In an experiment where trees where fertilized with nitrogen (N) or phosphorus (P) in low productivity dwarf forests (1-2 m height) and more productive, taller (4- 7 m height) seaward fringing forests, respiration of fine roots did not vary consistently with fertilization treatments or with forest stature. Fine roots of taller fringe trees had higher concentrations of both N and P compared to dwarf trees. Fertilization with P enhanced fine root P concentrations in both dwarf and fringe trees, but reduced root N concentrations compared to controls. Fertilization with N had no effect on root N or P concentrations. Unlike photosynthetic C gain and growth, which is strongly limited by P availability in dwarf forests at this site, fine root respiration (expressed on a mass basis) was variable, but showed no significant enhancements with nutrient additions. Variation in fine root production and standing biomass are, therefore, likely to be more important factors determining C efflux from mangrove sediments than variations in fine root respiration per unit mass. PMID:17169899

  8. Directional dominance on stature and cognition in diverse human populations.

    PubMed

    Joshi, Peter K; Esko, Tonu; Mattsson, Hannele; Eklund, Niina; Gandin, Ilaria; Nutile, Teresa; Jackson, Anne U; Schurmann, Claudia; Smith, Albert V; Zhang, Weihua; Okada, Yukinori; Stančáková, Alena; Faul, Jessica D; Zhao, Wei; Bartz, Traci M; Concas, Maria Pina; Franceschini, Nora; Enroth, Stefan; Vitart, Veronique; Trompet, Stella; Guo, Xiuqing; Chasman, Daniel I; O'Connel, Jeffrey R; Corre, Tanguy; Nongmaithem, Suraj S; Chen, Yuning; Mangino, Massimo; Ruggiero, Daniela; Traglia, Michela; Farmaki, Aliki-Eleni; Kacprowski, Tim; Bjonnes, Andrew; van der Spek, Ashley; Wu, Ying; Giri, Anil K; Yanek, Lisa R; Wang, Lihua; Hofer, Edith; Rietveld, Cornelius A; McLeod, Olga; Cornelis, Marilyn C; Pattaro, Cristian; Verweij, Niek; Baumbach, Clemens; Abdellaoui, Abdel; Warren, Helen R; Vuckovic, Dragana; Mei, Hao; Bouchard, Claude; Perry, John R B; Cappellani, Stefania; Mirza, Saira S; Benton, Miles C; Broeckel, Ulrich; Medland, Sarah E; Lind, Penelope A; Malerba, Giovanni; Drong, Alexander; Yengo, Loic; Bielak, Lawrence F; Zhi, Degui; van der Most, Peter J; Shriner, Daniel; Mägi, Reedik; Hemani, Gibran; Karaderi, Tugce; Wang, Zhaoming; Liu, Tian; Demuth, Ilja; Zhao, Jing Hua; Meng, Weihua; Lataniotis, Lazaros; van der Laan, Sander W; Bradfield, Jonathan P; Wood, Andrew R; Bonnefond, Amelie; Ahluwalia, Tarunveer S; Hall, Leanne M; Salvi, Erika; Yazar, Seyhan; Carstensen, Lisbeth; de Haan, Hugoline G; Abney, Mark; Afzal, Uzma; Allison, Matthew A; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Barr, R Graham; Baumeister, Sebastian E; Benjamin, Daniel J; Bergmann, Sven; Boerwinkle, Eric; Bottinger, Erwin P; Campbell, Archie; Chakravarti, Aravinda; Chan, Yingleong; Chanock, Stephen J; Chen, Constance; Chen, Y-D Ida; Collins, Francis S; Connell, John; Correa, Adolfo; Cupples, L Adrienne; Smith, George Davey; Davies, Gail; Dörr, Marcus; Ehret, Georg; Ellis, Stephen B; Feenstra, Bjarke; Feitosa, Mary F; Ford, Ian; Fox, Caroline S; Frayling, Timothy M; Friedrich, Nele; Geller, Frank; Scotland, Generation; Gillham-Nasenya, Irina; Gottesman, Omri; Graff, Misa; Grodstein, Francine; Gu, Charles; Haley, Chris; Hammond, Christopher J; Harris, Sarah E; Harris, Tamara B; Hastie, Nicholas D; Heard-Costa, Nancy L; Heikkilä, Kauko; Hocking, Lynne J; Homuth, Georg; Hottenga, Jouke-Jan; Huang, Jinyan; Huffman, Jennifer E; Hysi, Pirro G; Ikram, M Arfan; Ingelsson, Erik; Joensuu, Anni; Johansson, Åsa; Jousilahti, Pekka; Jukema, J Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kanoni, Stavroula; Kerr, Shona M; Khan, Nazir M; Koellinger, Philipp; Koistinen, Heikki A; Kooner, Manraj K; Kubo, Michiaki; Kuusisto, Johanna; Lahti, Jari; Launer, Lenore J; Lea, Rodney A; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David C M; Lind, Lars; Loh, Marie; Lokki, Marja-Liisa; London, Stephanie J; Loomis, Stephanie J; Loukola, Anu; Lu, Yingchang; Lumley, Thomas; Lundqvist, Annamari; Männistö, Satu; Marques-Vidal, Pedro; Masciullo, Corrado; Matchan, Angela; Mathias, Rasika A; Matsuda, Koichi; Meigs, James B; Meisinger, Christa; Meitinger, Thomas; Menni, Cristina; Mentch, Frank D; Mihailov, Evelin; Milani, Lili; Montasser, May E; Montgomery, Grant W; Morrison, Alanna; Myers, Richard H; Nadukuru, Rajiv; Navarro, Pau; Nelis, Mari; Nieminen, Markku S; Nolte, Ilja M; O'Connor, George T; Ogunniyi, Adesola; Padmanabhan, Sandosh; Palmas, Walter R; Pankow, James S; Patarcic, Inga; Pavani, Francesca; Peyser, Patricia A; Pietilainen, Kirsi; Poulter, Neil; Prokopenko, Inga; Ralhan, Sarju; Redmond, Paul; Rich, Stephen S; Rissanen, Harri; Robino, Antonietta; Rose, Lynda M; Rose, Richard; Sala, Cinzia; Salako, Babatunde; Salomaa, Veikko; Sarin, Antti-Pekka; Saxena, Richa; Schmidt, Helena; Scott, Laura J; Scott, William R; Sennblad, Bengt; Seshadri, Sudha; Sever, Peter; Shrestha, Smeeta; Smith, Blair H; Smith, Jennifer A; Soranzo, Nicole; Sotoodehnia, Nona; Southam, Lorraine; Stanton, Alice V; Stathopoulou, Maria G; Strauch, Konstantin; Strawbridge, Rona J; Suderman, Matthew J; Tandon, Nikhil; Tang, Sian-Tsun; Taylor, Kent D; Tayo, Bamidele O; Töglhofer, Anna Maria; Tomaszewski, Maciej; Tšernikova, Natalia; Tuomilehto, Jaakko; Uitterlinden, Andre G; Vaidya, Dhananjay; van Hylckama Vlieg, Astrid; van Setten, Jessica; Vasankari, Tuula; Vedantam, Sailaja; Vlachopoulou, Efthymia; Vozzi, Diego; Vuoksimaa, Eero; Waldenberger, Melanie; Ware, Erin B; Wentworth-Shields, William; Whitfield, John B; Wild, Sarah; Willemsen, Gonneke; Yajnik, Chittaranjan S; Yao, Jie; Zaza, Gianluigi; Zhu, Xiaofeng; Salem, Rany M; Melbye, Mads; Bisgaard, Hans; Samani, Nilesh J; Cusi, Daniele; Mackey, David A; Cooper, Richard S; Froguel, Philippe; Pasterkamp, Gerard; Grant, Struan F A; Hakonarson, Hakon; Ferrucci, Luigi; Scott, Robert A; Morris, Andrew D; Palmer, Colin N A; Dedoussis, George; Deloukas, Panos; Bertram, Lars; Lindenberger, Ulman; Berndt, Sonja I; Lindgren, Cecilia M; Timpson, Nicholas J; Tönjes, Anke; Munroe, Patricia B; Sørensen, Thorkild I A; Rotimi, Charles N; Arnett, Donna K; Oldehinkel, Albertine J; Kardia, Sharon L R; Balkau, Beverley; Gambaro, Giovanni; Morris, Andrew P; Eriksson, Johan G; Wright, Margie J; Martin, Nicholas G; Hunt, Steven C; Starr, John M; Deary, Ian J; Griffiths, Lyn R; Tiemeier, Henning; Pirastu, Nicola; Kaprio, Jaakko; Wareham, Nicholas J; Pérusse, Louis; Wilson, James G; Girotto, Giorgia; Caulfield, Mark J; Raitakari, Olli; Boomsma, Dorret I; Gieger, Christian; van der Harst, Pim; Hicks, Andrew A; Kraft, Peter; Sinisalo, Juha; Knekt, Paul; Johannesson, Magnus; Magnusson, Patrik K E; Hamsten, Anders; Schmidt, Reinhold; Borecki, Ingrid B; Vartiainen, Erkki; Becker, Diane M; Bharadwaj, Dwaipayan; Mohlke, Karen L; Boehnke, Michael; van Duijn, Cornelia M; Sanghera, Dharambir K; Teumer, Alexander; Zeggini, Eleftheria; Metspalu, Andres; Gasparini, Paolo; Ulivi, Sheila; Ober, Carole; Toniolo, Daniela; Rudan, Igor; Porteous, David J; Ciullo, Marina; Spector, Tim D; Hayward, Caroline; Dupuis, Josée; Loos, Ruth J F; Wright, Alan F; Chandak, Giriraj R; Vollenweider, Peter; Shuldiner, Alan R; Ridker, Paul M; Rotter, Jerome I; Sattar, Naveed; Gyllensten, Ulf; North, Kari E; Pirastu, Mario; Psaty, Bruce M; Weir, David R; Laakso, Markku; Gudnason, Vilmundur; Takahashi, Atsushi; Chambers, John C; Kooner, Jaspal S; Strachan, David P; Campbell, Harry; Hirschhorn, Joel N; Perola, Markus; Polašek, Ozren; Wilson, James F

    2015-07-23

    Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human

  9. A Procedure for Calculating the Vertical Space Height of the Sacrum When Determining Skeletal Height for Use in the Anatomical Method of Adult Stature Estimation.

    PubMed

    Hayashi, Atsuko; Emanovsky, Paul D; Pietrusewsky, Michael; Holland, Thomas D

    2016-03-01

    Estimating stature from skeletonized remains is one of the essential parameters in the development of a biological profile. A new procedure for determining skeletal height (SKH) incorporating the vertical space height (VSH) from the anterior margin of the sacral promontory to the superior margins of the acetabulae for use in the anatomical method of stature estimation is introduced. Regression equations for stature estimation were generated from measurements of 38 American males of European ancestry from the William M. Bass Donated Skeletal Collection. The modification to the procedure results in a SKH that is highly correlated with stature (r = 0.925-0.948). Stature estimates have low standard errors of the estimate ranging from 21.79 to 25.95 mm, biases from to 0.50 to 0.94 mm, and accuracy rates from 17.71 mm to 19.45 mm. The procedure for determining the VSH, which replaces "S1 height" in traditional anatomical method models, is a key improvement to the method. PMID:27404615

  10. [A clinical investigation of pediatric patients with sleep-disordered breathing who suffered perioperative respiratory complications of adenotonsillectomy].

    PubMed

    Ogawa, Makoto; Hosokawa, Kiyohito; Inohara, Hidenori

    2014-03-01

    The aim of this study was to investigate the clinical background and identify the risk factors for perioperative respiratory complication in pediatric patients with sleep-disordered breathing (SDB) who underwent adenotonsillectomy (AT). Of the 186 pediatric subjects (male: 131, female: 55) undergoing AT as the first surgical treatment for SDB, 14 patients (male: 9, female: 5) fulfilled the following criteria: 1) disturbed ventilation, 2) cyanosis with an oxygen saturation of less than 90% on pulse oximetry during the perioperative period and 3) the subsequent need for medical intervention, including immediate intubation, continuous positive airway pressure (CPAP) or airway insertion. Among these 14 patients, nine were less than 3 years of age. In addition, 5 and 3 patients had hypotonia due to cerebral paralysis and metabolic disturbances, respectively. Seven had a short stature with an SD of worse than - 1.5. A statistical analysis showed that cases with either an age of less than 3 years, hypotonia or a short stature had a high risk for suffering from respiratory complications, and suggested that low body weight and a high value for preoperative apnea-hypopnea index were additional risk factors. However, a chart review exhibited that, of the 14 cases with respiratory complications, the 8 cases whose age was under 3 years had either of hypotonia or a short stature. In thirteen of the 14 cases, respiratory complications were associated with the process of general anesthesia, and ten patients exhibited pharyngeal collapse. After surgery, 7 and 3 patients required intensive care in the ICU and the pediatric recovery unit, respectively. Based on these results, it is suggested that pediatric SDB cases under 3 years of age and either with hypotonia or a short stature have a high risk for respiratory complications associated with AT, and therefore AT for such patients should only be performed in medical facilities with an ICU or an equivalent department. PMID:24783453

  11. A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

    PubMed

    Fontana, Paolo; Tortora, Cristina; Petillo, Roberta; Falco, Mariateresa; Miniero, Martina; De Brasi, Davide; Pisanti, Maria Antonietta

    2016-09-01

    5q11.2 Deletion is a very rare genomic disorder, and its clinical phenotype has not yet been characterized. This report describes a patient with an 8.6 Mb deletion, showing hypotonia, mild developmental delay, short stature, and distinctive dysmorphic features (frontal bossing, square face, deep-set eyes, prominent columella, long philtrum, thin lips). © 2016 Wiley Periodicals, Inc.

  12. Lucy's length: stature reconstruction in Australopithecus afarensis (A.L.288-1) with implications for other small-bodied hominids.

    PubMed

    Jungers, W L

    1988-06-01

    New stature estimates are provided for A.L.288-1 (Australopithecus afarensis) based on (1) the relationship between femur length and stature in separate samples of human pygmies and pygmy chimpanzees and (2) model II regression alternatives to standard least-squares methods. Estimates from the two samples are very similar and converge on a value of approximately 3'6" for "Lucy." These results are compared to prior estimates and extended to other small-bodied hominids such as STS-14 and O.H.62. A new foot-to-stature ratio is also estimated for A.L.288-1, and its potential biomechanical significance for gait is evaluated in comparison to other groups.

  13. [Hormonal regulation and hormone therapy in childhood and adolescence. Part 2: Therapeutic problems (tall stature, amenorrhea, delayed puberty, oligomenorrhea, precocious puberty, anorexia nervosa, anisomastia, hypermastia, acne etc)].

    PubMed

    Lauritzen, C

    1979-05-17

    The most important therapeutic problems of female puberty and adolescence are discussed, including high stature, amenorrhoea, oligomenorrhea, pubertas tarda, anovulation, anorexia, anisomastia, hypermastia. Indications for treatment are given and the possibilities for a prophylactic medicine in this age group are stressed. PMID:156144

  14. Adaptive survival mechanisms and growth limitations of small-stature herb species across a plant diversity gradient.

    PubMed

    Dassler, A; Roscher, C; Temperton, V M; Schumacher, J; Schulze, E-D

    2008-09-01

    Several biodiversity experiments have shown positive effects of species richness on aboveground biomass production, but highly variable responses of individual species. The well-known fact that the competitive ability of plant species depends on size differences among species, raises the question of effects of community species richness on small-stature subordinate species. We used experimental grasslands differing in species richness (1-60 species) and functional group richness (one to four functional groups) to study biodiversity effects on biomass production and ecophysiological traits of five small-stature herbs (Bellis perennis, Plantago media, Glechoma hederacea, Ranunculus repens and Veronica chamaedrys). We found that ecophysiological adaptations, known as typical shade-tolerance strategies, played an important role with increasing species richness and in relation to a decrease in transmitted light. Specific leaf area and leaf area ratio increased, while area-based leaf nitrogen decreased with increasing community species richness. Community species richness did not affect daily leaf carbohydrate turnover of V. chamaedrys and P. media indicating that these species maintained efficiency of photosynthesis even in low-light environments. This suggests an important possible mechanism of complementarity in such grasslands, whereby smaller species contribute to a better overall efficiency of light use. Nevertheless, these species rarely contributed a large proportion to community biomass production or achieved higher yields in mixtures than expected from monocultures. It seems likely that the allocation to aboveground plant organs to optimise carbon assimilation limited the investment in belowground organs to acquire nutrients and thus hindered these species from increasing their performance in multi-species mixtures.

  15. Short esophagus.

    PubMed

    Kunio, Nicholas R; Dolan, James P; Hunter, John G

    2015-06-01

    In the presence of long-standing and severe gastroesophageal reflux disease, patients can develop various complications, including a shortened esophagus. Standard preoperative testing in these patients should include endoscopy, esophagography, and manometry, whereas the objective diagnosis of a short esophagus must be made intraoperatively following adequate mediastinal mobilization. If left untreated, it is a contributing factor to the high recurrence rate following fundoplications or repair of large hiatal hernias. A laparoscopic Collis gastroplasty combined with an antireflux procedure offers safe and effective therapy.

  16. Coordination between water transport capacity, biomass growth, metabolic scaling and species stature in co-occurring shrub and tree species.

    PubMed

    Smith, Duncan D; Sperry, John S

    2014-12-01

    The significance of xylem function and metabolic scaling theory begins from the idea that water transport is strongly coupled to growth rate. At the same time, coordination of water transport and growth seemingly should differ between plant functional types. We evaluated the relationships between water transport, growth and species stature in six species of co-occurring trees and shrubs. Within species, a strong proportionality between plant hydraulic conductance (K), sap flow (Q) and shoot biomass growth (G) was generally supported. Across species, however, trees grew more for a given K or Q than shrubs, indicating greater growth-based water-use efficiency (WUE) in trees. Trees also showed slower decline in relative growth rate (RGR) than shrubs, equivalent to a steeper G by mass (M) scaling exponent in trees (0.77-0.98). The K and Q by M scaling exponents were common across all species (0.80, 0.82), suggesting that the steeper G scaling in trees reflects a size-dependent increase in their growth-based WUE. The common K and Q by M exponents were statistically consistent with the 0.75 of ideal scaling theory. A model based upon xylem anatomy and branching architecture consistently predicted the observed K by M scaling exponents but only when deviations from ideal symmetric branching were incorporated. PMID:25041417

  17. Body height preferences and actual dimorphism in stature between partners in two non-Western societies (Hadza and Tsimane').

    PubMed

    Sorokowski, Piotr; Sorokowska, Agnieszka; Butovskaya, Marina; Stulp, Gert; Huanca, Tomas; Fink, Bernhard

    2015-01-01

    Body height influences human mate preferences and choice. A typical finding in Western societies is that women prefer men who are taller than themselves and, equivalently, men prefer women who are shorter than themselves. However, recent reports in non-Western societies (e.g., the Himba in Namibia) challenge the view on the universality of such preferences. Here we report on male and female height preferences in two non-Western populations--the Hadza (Tanzania) and the Tsimane' (Bolivia)--and the relationships between body height preferences and the height of actual partners. In the Hadza, most individuals preferred a sexual dimorphism in stature (SDS) with the man being much taller than the woman. Preferences for SDS and actual partner SDS were positively and significantly correlated in both men and women, suggesting that people who preferred larger height differences also had larger height differences with their partners. In the Tsimane', the majority of men preferred an SDS with the man being taller than the woman, but women did not show such a preference. Unlike in the Hadza, SDS preference was not significantly correlated to actual partner SDS. We conclude that patterns of height preferences and choices in the Hadza and Tsimane' are different than those observed in Western societies, and discuss possible causes for the observed differences between non-Western and Western societies.

  18. The physical stature of Jewish men in Poland in the second half of the 19th century.

    PubMed

    Kopczyński, Michał

    2011-03-01

    Since 1843 Jews inhabiting the Kingdom of Poland were obliged to serve in the Russian army and therefore were examined by draft boards on a par with Christians. We explore the trends in the height of recruits by religion and place of birth. Basing on samples drawn from 21-year-old conscripts born between 1845 and 1892 we find that Jewish conscripts were shorter than the Christians by 2.5 cm at the beginning of the period under scrutiny and the difference exceeded 4 cm in the 1890s. The height of Jewish conscripts inhabiting provincial towns declined in the late 1880s and in the early 1890s was about the same as in the 1840s, i.e. 161 cm. The socioeconomic crisis of provincial towns caused a massive migration to Warsaw and abroad as well. In the 1870s the stature of Warsaw and provincial Jews was similar, but in the early 1890s men from Warsaw were by 2 cm taller than provincial Jews. The height gap mirrors the difference in the standard of living between Warsaw and provincial towns.

  19. Coordination between water transport capacity, biomass growth, metabolic scaling and species stature in co-occurring shrub and tree species.

    PubMed

    Smith, Duncan D; Sperry, John S

    2014-12-01

    The significance of xylem function and metabolic scaling theory begins from the idea that water transport is strongly coupled to growth rate. At the same time, coordination of water transport and growth seemingly should differ between plant functional types. We evaluated the relationships between water transport, growth and species stature in six species of co-occurring trees and shrubs. Within species, a strong proportionality between plant hydraulic conductance (K), sap flow (Q) and shoot biomass growth (G) was generally supported. Across species, however, trees grew more for a given K or Q than shrubs, indicating greater growth-based water-use efficiency (WUE) in trees. Trees also showed slower decline in relative growth rate (RGR) than shrubs, equivalent to a steeper G by mass (M) scaling exponent in trees (0.77-0.98). The K and Q by M scaling exponents were common across all species (0.80, 0.82), suggesting that the steeper G scaling in trees reflects a size-dependent increase in their growth-based WUE. The common K and Q by M exponents were statistically consistent with the 0.75 of ideal scaling theory. A model based upon xylem anatomy and branching architecture consistently predicted the observed K by M scaling exponents but only when deviations from ideal symmetric branching were incorporated.

  20. Surname‐Inferred andean ancestry is associated with child stature and limb lengths at high altitude in Peru, but not at sea level

    PubMed Central

    Wells, Jonathan C.K.; Stanojevic, Sanja; Miranda, J. Jaime; Moore, Lorna G.; Cole, Tim J.; Stock, Jay T.

    2015-01-01

    Abstract Objectives Native Andean ancestry gives partial protection from reduced birthweight at high altitude in the Andes compared with European ancestry. Whether Andean ancestry is also associated with body proportions and greater postnatal body size at altitude is unknown. Therefore, we tested whether a greater proportion of Andean ancestry is associated with stature and body proportions among Peruvian children at high and low altitude. Methods Height, head circumference, head‐trunk height, upper and lower limb lengths, and tibia, ulna, hand and foot lengths, were measured in 133 highland and 169 lowland children aged 6 months to 8.5 years. For highland and lowland groups separately, age‐sex‐adjusted anthropometry z scores were regressed on the number of indigenous parental surnames as a proxy for Andean ancestry, adjusting for potential confounders (maternal age and education, parity, altitude [highlands only]). Results Among highland children, greater Andean ancestry was negatively associated with stature and tibia, ulna, and lower limb lengths, independent of negative associations with greater altitude for these measurements. Relationships were strongest for tibia length: each additional Andean surname or 1,000 m increase at altitude among highland children was associated with 0.18 and 0.65 z score decreases in tibia length, respectively. Anthropometry was not significantly associated with ancestry among lowland children. Conclusions Greater Andean ancestry is associated with shorter stature and limb measurements at high but not low altitude. Gene‐environment interactions between high altitude and Andean ancestry may exacerbate the trade‐off between chest dimensions and stature that was proposed previously, though we could not test this directly. Am. J. Hum. Biol. 27:798–806, 2015. © 2015 The Authors American Journal of Human Biology Published by Wiley Periodicals, Inc. PMID:25960137

  1. Human cranial vault thickness in a contemporary sample of 1097 autopsy cases: relation to body weight, stature, age, sex and ancestry.

    PubMed

    De Boer, H H Hans; Van der Merwe, A E Lida; Soerdjbalie-Maikoe, V Vidija

    2016-09-01

    The relation between human cranial vault thickness (CVT) and various elements of the physical anthropological biological profile is subject of ongoing discussion. Some results seem to indicate no correlation between CVT and the biological profile of the individual, whereas other results suggest that CVT measurements might be useful for identification purposes. This study assesses the correlation between CVT and body weight, stature, age, sex, and ancestry by reviewing data of 1097 forensic autopsies performed at the Netherlands Forensic Institute (NFI). In subadults (younger than 19 years of age at the time of death), all frontal, temporal, and occipital CVT measurements correlated moderately to strongly with indicators of growth (body weight, stature, and age). Neither sex nor ancestry correlated significantly with cranial thickness. In adults, body weight correlated with all CVT measurements. No meaningful correlation was found between CVT and stature or age. Females showed to have thicker frontal bones, and the occipital region was thicker in the Negroid subsample. All correlation in the adult group was weak, with the distribution of cranial thickness overlapping for a great deal between the groups. Based on these results, it was concluded that CVT generally cannot be used as an indicator for any part of the biological profile.

  2. Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

    PubMed Central

    Bicakci, Zafer

    2015-01-01

    Abstract Vitamin B12 (cobalamin, Cbl) deficiency can cause metabolic, hematological, and neurological abnormalities. Adequate levels of succinyl-coenzyme A (CoA) cannot be synthesized from methylmalonyl-CoA because of the decreased activity of the methylmalonyl-CoA mutase enzyme that uses Cbl as the cofactor. Succinyl-CoA synthesis deficiency leads to decreased heme synthesis and gluconeogenesis. The reason of growth retardation can be gluconeogenesis deficiency together with heme synthesis deficiency whereas the reason of the neurological abnormalities can be glycine increase in the tissue due to decreased heme synthesis. We present 7 infants diagnosed with severe nutritional Cbl deficiency and discuss the role of succinyl-CoA and glycine in the possible pathogenesis in this article. Patients brought to our clinic with a complaint of growth retardation and diagnosed with nutritional Cbl deficiency were included in the study. There were 5 females and 2 males. The mean age was 11 ± 2.30 (range 6–13) months. All patients had general muscular hypotonia and 4 had growth retardation. Neuromotor growth retardation was found in 4 of the children who had previously shown normal neuromotor development for age. The mean Cbl level was 83.8 ± 27.6 (45.6–114) pg/mL. The mean Cbl level of the mothers was 155 ± 56.6 (88–258) pg/mL. Six of the patients had anemia and 1 had thrombocytopenia. Mean corpuscular volume value was 91.5 ± 12.2 fL. Following treatment, the muscle tonus of the patients improved, the anemia and growth retardation decreased, and the lost neuromotor abilities were recovered. Severe nutritional Cbl deficiency is an important nutritional disease where complications can be prevented with early treatment. When evaluating the pathogenesis, it should be noted that nutritional Cbl deficiency is a succinyl-CoA synthesis deficiency. PMID:25738478

  3. Intersection of economics, history, and human biology: secular trends in stature in nineteenth-century Sioux Indians.

    PubMed

    Prince, J M

    1995-06-01

    An unusual confluence of historical factors may be responsible for nineteenth-century Sioux being able to sustain high statures despite enduring adverse conditions during the early reservation experience. An exceptionally long span of Dakota Sioux history was examined for secular trends using a cross-sectional design. Two primary sources were used: One anthropometric data set was collected in the late nineteenth century under the direction of Franz Boas, and another set was collected by James R. Walker in the early twentieth century. Collectively, the data represent the birth years between 1820 and 1880 for adult individuals 20 years old or older. Adult heights (n = 1197) were adjusted for aging effects and regressed on age, with each data set and each sex analyzed separately. Tests for differences between the adult means of age cohorts by decade of birth (1820-1880) were also carried out. Only one sample of adults showed any convincing secular trend (p < 0.05): surprisingly, a positive linear trend for Walker's sample of adult males. This sample was also the one sample of adults that showed significant differences between age cohorts. The failure to find any negative secular trend in this population of Amerindians is remarkable, given the drastic socioeconomic changes that occurred with the coming of the reservation period (ca. 1868). Comparisons with contemporary white Americans show that the Sioux remained consistently taller than whites well into the reservation period and that Sioux children (Prince 1989) continued to grow at highly favorable rates during this time of severe conditions. A possible explanation for these findings involves the relatively favorable level of subsistence support received by most of the Sioux from the US government, as stipulated by various treaties. Conservative estimates suggest that the Sioux may have been able to sustain net levels of per capita annual meat consumption that exceeded the US average for several years before 1893

  4. Stature and jumping height are required in female volleyball, but motor coordination is a key factor for future elite success.

    PubMed

    Pion, Johan A; Fransen, Job; Deprez, Dieter N; Segers, Veerle I; Vaeyens, Roel; Philippaerts, Renaat M; Lenoir, Matthieu

    2015-06-01

    It was hypothesized that differences in anthropometry, physical performance, and motor coordination would be found between Belgian elite and sub-elite level female volleyball players using a retrospective analysis of test results gathered over a 5-year period. The test sample in this study consisted of 21 young female volleyball players (15.3 ± 1.5 years) who were selected to train at the Flemish Top Sports Academy for Volleyball in 2008. All players (elite, n = 13; sub-elite, n = 8) were included in the same talent development program, and the elite-level athletes were of a high to very high performance levels according to European competition level in 2013. Five multivariate analyses of variance were used. There was no significant effect of playing level on measures of anthropometry (F = 0.455, p = 0.718, (Equation is included in full-text article.)= 0.07), flexibility (F = 1.861, p = 0.188, (Equation is included in full-text article.)= 0.19), strength (F = 1.218, p = 0.355, (Equation is included in full-text article.)= 0.32); and speed and agility (F = 1.176, p = 0.350, (Equation is included in full-text article.)= 0.18). Multivariate analyses of variance revealed significant multivariate effects between playing levels for motor coordination (F = 3.470, p = 0.036, (Equation is included in full-text article.)= 0.59). A Mann-Whitney U test and a sequential discriminant analysis confirmed these results. Previous research revealed that stature and jump height are prerequisites for talent identification in female volleyball. In addition, the results show that motor coordination is an important factor in determining inclusion into the elite level in female volleyball. PMID:25436627

  5. Identification and genetic characterization of a gibberellin 2-oxidase gene that controls tree stature and reproductive growth in plum

    PubMed Central

    El-Sharkawy, I.; El Kayal, W.; Prasath, D.; Fernández, H.; Bouzayen, M.; Svircev, A. M.; Jayasankar, S.

    2012-01-01

    Several dwarf plum genotypes (Prunus salicina L.), due to deficiency of unknown gibberellin (GA) signalling, were identified. A cDNA encoding GA 2-oxidase (PslGA2ox), the major gibberellin catabolic enzyme in plants, was cloned and used to screen the GA-deficient hybrids. This resulted in the identification of a dwarf plum hybrid, designated as DGO24, that exhibits a markedly elevated PslGA2ox signal. Grafting ‘Early Golden’ (EG), a commercial plum cultivar, on DGO24 (EG/D) enhanced PslGA2ox accumulation in the scion part and generated trees of compact stature. Assessment of active GAs in such trees revealed that DGO24 and EG/D accumulated relatively much lower quantities of main bioactive GAs (GA1 and GA4) than control trees (EG/M). Moreover, the physiological function of PslGA2ox was studied by determining the molecular and developmental consequences due to ectopic expression in Arabidopsis. Among several lines, two groups of homozygous transgenics that exhibited contrasting phenotypes were identified. Group-1 displayed a dwarf growth pattern typical of mutants with a GA deficiency including smaller leaves, shorter stems, and delay in the development of reproductive events. In contrast, Group-2 exhibited a ‘GA overdose’ phenotype as all the plants showed elongated growth, a typical response to GA application, even under limited GA conditions, potentially due to co-suppression of closely related Arabidopsis homologous. The studies reveal the possibility of utilizing PslGA2ox as a marker for developing size-controlling rootstocks in Prunus. PMID:22080981

  6. Attainment and Maintenance of Normal Stature with Alkali Therapy in Infants and Children with Classic Renal Tubular Acidosis

    PubMed Central

    McSherry, Elisabeth; Morris, R. Curtis

    1978-01-01

    Growth was evaluated in a group of 10 infants and children with familial or idiopathic classic renal tubular acidosis in whom alkali therapy was initiated at ages ranging from 8 days to 9.5 yr and administered at dosage schedules documented to sustain correction of acidosis in at least four prolonged observation periods on the Pediatric Clinical Research Ward. When alkali therapy was begun, six patients (four infants and two children) were stunted (height <2.5 SD below mean). Of the four who were not, two infants were too young (<2 wk of age) to have become stunted, and two children had been documented earlier to be nonacidotic. At the start of alkali therapy, the heights of the patients correlated inversely with the maximal possible duration of prior acidosis. With sustained alkali therapy: (a) each patient attained and maintained normal stature; (b) the mean height of the 10 patients increased from the 1.4±4 to the 37.0±33 percentile (of a normal age- and sex-matched population); (c) the mean height reached the 69th percentile in the eight patients whose heights could be analyzed according to parental prediction (Tanner technique); (d) the rate of growth increased two- to threefold, and normal heights were attained within 6 mo of initiating alkali therapy in the stunted infants and within 3 yr in the stunted children; (e) the height attained correlated inversely with the maximal possible duration of acidosis (before alkali therapy) only in those patients in whom alkali therapy was started after 6 mo of age, and not in those treated earlier. The amount of alkali required to sustain correction of acidosis increased substantially during the course of treatment in each patient. The maximal alkali requirement ranged from 4.8 to 14.1 meq/kg per day, and in each patient its amount was determined principally by the magnitude of renal bicarbonate wasting. Images PMID:621287

  7. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

    PubMed Central

    Superti-Furga, A.; Neumann, L.; Riebel, T.; Eich, G.; Steinmann, B.; Spranger, J.; Kunze, J.

    1999-01-01

    We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
  Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.


Keywords: multiple epiphyseal dysplasia; DTDST; double layered patella PMID:10465113

  8. Test of socioeconomic causation of secular trend: stature changes among favored and oppressed South Africans are parallel.

    PubMed

    Henneberg, M; van den Berg, E R

    1990-12-01

    Secular trends in body height, however common, run at different rates and even in opposite directions in various populations. The standard explanation is that direction and tempo of the trend are reflections of changes in the socioeconomic situation. The aim of this work is to test this hypothesis by examining trends in different socioeconomic groups living in the same country. Our observations on affluent South Africans of European extraction (AE) and on Polish medical students are compared with the data on statures of other affluent and poor peoples from the two countries measured at various dates during the 19th and 20th centuries. The trend among native Southern Africans is erratic (Tobias: South African Journal of Medical Science 40:145-164, 1975), but the overall direction is positive with a slow rate (0.24 cm/decade for 72 Negroid male groups and 0.48 cm/d for 28 Khoisan male samples). Magnitude of the trend among adult AE (0.41 cm/d for females, 0.59 for males) does not differ significantly from that among natives. The trend was absent in the data for 10-year-old AE boys and girls. The rate of trend among AE is much lower than that in their countries of origin (mainly Holland and Britain). The trend among AE medical students is markedly weaker than the trend among Polish medical students (1.21 cm/d), who in turn parallel Polish general conscripts (1.24 cm/d). It follows that the explanation of the secular trend as being an ecosensitive response of individuals to changing levels of well-being is insufficient. PMID:2275483

  9. Intersection of economics, history, and human biology: secular trends in stature in nineteenth-century Sioux Indians.

    PubMed

    Prince, J M

    1995-06-01

    An unusual confluence of historical factors may be responsible for nineteenth-century Sioux being able to sustain high statures despite enduring adverse conditions during the early reservation experience. An exceptionally long span of Dakota Sioux history was examined for secular trends using a cross-sectional design. Two primary sources were used: One anthropometric data set was collected in the late nineteenth century under the direction of Franz Boas, and another set was collected by James R. Walker in the early twentieth century. Collectively, the data represent the birth years between 1820 and 1880 for adult individuals 20 years old or older. Adult heights (n = 1197) were adjusted for aging effects and regressed on age, with each data set and each sex analyzed separately. Tests for differences between the adult means of age cohorts by decade of birth (1820-1880) were also carried out. Only one sample of adults showed any convincing secular trend (p < 0.05): surprisingly, a positive linear trend for Walker's sample of adult males. This sample was also the one sample of adults that showed significant differences between age cohorts. The failure to find any negative secular trend in this population of Amerindians is remarkable, given the drastic socioeconomic changes that occurred with the coming of the reservation period (ca. 1868). Comparisons with contemporary white Americans show that the Sioux remained consistently taller than whites well into the reservation period and that Sioux children (Prince 1989) continued to grow at highly favorable rates during this time of severe conditions. A possible explanation for these findings involves the relatively favorable level of subsistence support received by most of the Sioux from the US government, as stipulated by various treaties. Conservative estimates suggest that the Sioux may have been able to sustain net levels of per capita annual meat consumption that exceeded the US average for several years before 1893.

  10. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

    PubMed

    Superti-Furga, A; Neumann, L; Riebel, T; Eich, G; Steinmann, B; Spranger, J; Kunze, J

    1999-08-01

    We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus. PMID:10465113

  11. Test of socioeconomic causation of secular trend: stature changes among favored and oppressed South Africans are parallel.

    PubMed

    Henneberg, M; van den Berg, E R

    1990-12-01

    Secular trends in body height, however common, run at different rates and even in opposite directions in various populations. The standard explanation is that direction and tempo of the trend are reflections of changes in the socioeconomic situation. The aim of this work is to test this hypothesis by examining trends in different socioeconomic groups living in the same country. Our observations on affluent South Africans of European extraction (AE) and on Polish medical students are compared with the data on statures of other affluent and poor peoples from the two countries measured at various dates during the 19th and 20th centuries. The trend among native Southern Africans is erratic (Tobias: South African Journal of Medical Science 40:145-164, 1975), but the overall direction is positive with a slow rate (0.24 cm/decade for 72 Negroid male groups and 0.48 cm/d for 28 Khoisan male samples). Magnitude of the trend among adult AE (0.41 cm/d for females, 0.59 for males) does not differ significantly from that among natives. The trend was absent in the data for 10-year-old AE boys and girls. The rate of trend among AE is much lower than that in their countries of origin (mainly Holland and Britain). The trend among AE medical students is markedly weaker than the trend among Polish medical students (1.21 cm/d), who in turn parallel Polish general conscripts (1.24 cm/d). It follows that the explanation of the secular trend as being an ecosensitive response of individuals to changing levels of well-being is insufficient.

  12. Hominin stature, body mass, and walking speed estimates based on 1.5 million-year-old fossil footprints at Ileret, Kenya.

    PubMed

    Dingwall, Heather L; Hatala, Kevin G; Wunderlich, Roshna E; Richmond, Brian G

    2013-06-01

    The early Pleistocene marks a period of major transition in hominin body form, including increases in body mass and stature relative to earlier hominins. However, because complete postcranial fossils with reliable taxonomic attributions are rare, efforts to estimate hominin mass and stature are complicated by the frequent albeit necessary use of isolated, and often fragmentary, skeletal elements. The recent discovery of 1.52 million year old hominin footprints from multiple horizons in Ileret, Kenya, provides new data on the complete foot size of early Pleistocene hominins as well as stride lengths and other characteristics of their gaits. This study reports the results of controlled experiments with habitually unshod Daasanach adults from Ileret to examine the relationships between stride length and speed, and also those between footprint size, body mass, and stature. Based on significant relationships among these variables, we estimate travel speeds ranging between 0.45 m/s and 2.2 m/s from the fossil hominin footprint trails at Ileret. The fossil footprints of seven individuals show evidence of heavy (mean = 50.0 kg; range: 41.5-60.3 kg) and tall individuals (mean = 169.5 cm; range: 152.6-185.8 cm), suggesting that these prints were most likely made by Homo erectus and/or male Paranthropus boisei. The large sizes of these footprints provide strong evidence that hominin body size increased during the early Pleistocene. PMID:23522822

  13. Changing patterns of social variation in stature in Poland: effects of transition from a command economy to the free-market system?

    PubMed

    Bielicki, T; Szklarska, A; Kozieł, S; Ulijaszek, S J

    2005-07-01

    The aim of this analysis was to examine the effects on stature in two nationally representative samples of Polish 19-year-old conscripts of maternal and paternal education level, and of degree of urbanization, before and after the economic transition of 1990. Data were from two national surveys of 19-year-old Polish conscripts: 27,236 in 1986 and 28,151 in 2001. In addition to taking height measurements, each subject was asked about the socioeconomic background of their families, including paternal and maternal education, and the name of the locality of residence. The net effect of each of these social factors on stature was determined using four-factor analysis of variance. The secular trend towards increased stature of Polish conscripts has slowed down from a rate 2.1 cm per decade across the period 1965-1986 to 1.5 cm per decade between 1986 and 2001. In both cohorts, mean statures increase with increasing size of locality of residence, paternal education and maternal education. The effect of each of these three social factors on conscript height is highly significant in both cohorts. However, the effect of maternal education has increased substantially while that of size of locality of residence and paternal education diminished between 1986 and 2001. These results imply that the influence of parental education on child growth cannot be due solely to a relationship between education and income, but is also perhaps a reflection of household financial management which benefits child health and growth by better educated parents, regardless of level of income. In addition they suggest that, irrespective of whether there are one or two breadwinners in the family, it is the mother, more so than the father, who is principally responsible for the extent to which such management best favours child health and growth. The asymmetry between the importance of maternal as against paternal education for child growth, clearly seen in the 1986 cohort, became more accentuated in

  14. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    PubMed Central

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. PMID:27672470

  15. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. PMID:27672470

  16. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    PubMed Central

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  17. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    PubMed

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  18. Predictors of maximal short-term power outputs in basketball players 14-16 years.

    PubMed

    Carvalho, Humberto M; Coelho E Silva, Manuel J; Figueiredo, António J; Gonçalves, Carlos E; Philippaerts, Renaat M; Castagna, Carlo; Malina, Robert M

    2011-05-01

    Relationships between growth, maturation and maximal short-term power outputs were investigated in 94 youth basketball players aged 14-16 years. Data included chronological age (CA), skeletal age (SA), years of training; body dimensions, estimated thigh volume, a running based short-term exercise assessed by the line drill test (LDT), the Bangsbo sprint test (BST) and short-term muscle power outputs with the Wingate anaerobic test (WAnT). Multiple linear regression analyses were used to estimate the effects of CA, skeletal maturity (SA/CA), years of training experience, body size and lower-limb volume on short-term performance in the LDT, BST and WAnT, respectively. Explained variances differed between cycle-ergometry outputs (52-54%) and running test performances (23-46%). The independent effects of predictors were small in the fatigue scores of the WAnT (4%) and the BST (11%). Skeletal maturity, body mass and leg length were primary predictors for all maximal short-term power output measures. Leg length was more relevant as a predictor than stature in the WAnT outputs, while stature and body mass appeared in the model with the running tests as dependent variable. Maximal short-term running abilities were also sensitive to years of training. In summary, skeletal maturation, body size and thigh muscle mass explained moderate to large proportions of the variance on maximal short-term performances of adolescent basketball players. The results highlight the importance of considering maturity status in evaluating the maximal short-term power outputs of adolescent athletes.

  19. Polar bears in the southern Beaufort Sea III: Stature, mass, and cub recruitment in relationship to time and sea ice extent between 1982 and 2006

    USGS Publications Warehouse

    Rode, Karyn D.; Amstrup, Steven C.; Regehr, Eric V.

    2007-01-01

    Changes in individual stature and body mass can affect reproduction and survival and have been shown to be early indicators of changes in status and trends of polar bear populations. We recorded body length, skull size, and mass of polar bears (Ursus maritimus) during capture/recapture studies conducted in the southern Beaufort Sea of Alaska (SB) between 1982 and 2006. We calculated a body condition index (BCI) which reflects trends in mass relative to length. We also recorded the number of dependent young accompanying females in the spring and fall as an indicator of cub recruitment. Previous work suggested stature of some sex and age classes of bears in the SB had changed between early and latter portions of this study but did not investigate trends in or causes of those changes. Here, we investigate whether these measurements changed over time or in relation to sea ice extent. Because our study required bears to be repeatedly immobilized and captured, we tested whether frequency of capture could have affected these measurements. Mass, length, skull size, and BCI of growing males (aged 3-10), mass and skull size of cubs-of-the year, and the number of yearlings per female in the spring and fall were all positively related to the percent of days in which sea ice covered the continental shelf. Skull sizes and/or lengths of adult and subadult males and females decreased over time during the study. Adult body mass was not related to sea ice cover and did not show a trend with time. BCI of adult females exhibited a positive trend over time reflecting a decline in length without a parallel trend in mass. Though cub production increased over time, the number of cubs-of-the-year (COYs) per female in the fall and yearlings per female in the spring declined suggesting reduced cub survival. Bears with prior capture history were either larger or similar in stature and mass to bears captured for the first time, indicating that research activities did not influence trends in

  20. Body mass prediction from stature and bi-iliac breadth in two high latitude populations, with application to earlier higher latitude humans.

    PubMed

    Ruff, Christopher; Niskanen, Markku; Junno, Juho-Antti; Jamison, Paul

    2005-04-01

    Previous studies have indicated that body mass can be estimated from stature and bi-iliac (maximum pelvic) breadth with reasonable accuracy in modern humans, supporting the use of this method to estimate body mass in earlier human skeletal samples. However, to date the method has not been tested specifically on high latitude individuals, whose body form in some ways more closely approximates that of earlier higher latitude humans (i.e., large and broad-bodied). In this study, anthropometric data for 67 Alaskan Inupiat and 54 Finnish adults were used to test the stature/bi-iliac body mass estimation method. Both samples are very broad-bodied, and the Finnish sample is very tall as well. The method generally works well in these individuals, with average directional biases in body mass estimates of 3% or less, except in male Finns, whose body masses are systematically underestimated by an average of almost 9%. A majority of individuals in the total pooled sample have estimates to within +/-10% of their true body masses, and more than three-quarters have estimates to within +/-15%. The major factor found to affect directional bias is shoulder to hip breadth (biacromial/bi-iliac breadth). Male Finns have particularly wide shoulders, which may in part explain their systematic underestimation. New body mass estimation equations are developed that include the new data from this study. When applied to a sample of earlier (late middle Pleistocene to early Upper Paleolithic) higher latitude skeletal specimens, differences between previous and new body estimates are small (less than 2%). However, because the Finns significantly extend the range of morphological variation beyond that represented in the original world-wide reference sample used in developing the method, thereby increasing its generality, it is recommended that these new formulas be used in subsequent body mass estimations.

  1. A genome-wide association study using international breeding-evaluation data identifies major loci affecting production traits and stature in the Brown Swiss cattle breed

    PubMed Central

    2012-01-01

    Background The genome-wide association study (GWAS) is a useful approach to identify genes affecting economically important traits in dairy cattle. Here, we report the results from a GWAS based on high-density SNP genotype data and estimated breeding values for nine production, fertility, body conformation, udder health and workability traits in the Brown Swiss cattle population that is part of the international genomic evaluation program. Result GWASs were performed using 50 k SNP chip data and deregressed estimated breeding values (DEBVs) for nine traits from between 2061 and 5043 bulls that were part of the international genomic evaluation program coordinated by Interbull Center. The nine traits were milk yield (MY), fat yield (FY), protein yield (PY), lactating cow’s ability to recycle after calving (CRC), angularity (ANG), body depth (BDE), stature (STA), milk somatic cell score (SCS) and milk speed (MSP). Analyses were performed using a linear mixed model correcting for population confounding. A total of 74 SNPs were detected to be genome-wide significantly associated with one or several of the nine analyzed traits. The strongest signal was identified on chromosome 25 for milk production traits, stature and body depth. Other signals were on chromosome 11 for angularity, chromosome 24 for somatic cell score, and chromosome 6 for milking speed. Some signals overlapped with earlier reported QTL for similar traits in other cattle populations and were located close to interesting candidate genes worthy of further investigations. Conclusions Our study shows that international genetic evaluation data is a useful resource for identifying genetic factors influencing complex traits in livestock. Several genome wide significant association signals could be identified in the Brown Swiss population, including a major signal on BTA25. Our findings report several associations and plausible candidate genes that deserve further exploration in other populations and

  2. Shortness-of-Breath

    MedlinePlus

    ... can lead to shortness of breath include anxiety, panic attacks, anemia and even constipation. The experience of shortness ... are used to treat patients with anxiety or panic attacks. Other commonly used drugs include bronchodilators to widen ...

  3. Short bowel syndrome

    MedlinePlus

    Small intestine insufficiency; Short gut syndrome; Necrotizing enterocolitis - short bowel ... The small intestine absorbs much of the nutrients found in foods we eat. When one half or more of our small ...

  4. A Review of Stature, Body Mass and Maximal Oxygen Uptake Profiles of U17, U20 and First Division Players in Brazilian Soccer

    PubMed Central

    Da Silva, Cristiano Diniz; Bloomfield, Jonathan; Marins, João Carlos Bouzas

    2008-01-01

    Investigations in the physiological demands of soccer have identified that a significant percentage of energy production in match performance is provided through the aerobic pathways. It is therefore important to assess maximal oxygen uptake (VO2Max) of players in order to evaluate their aerobic fitness status and optimize their physical conditioning. However, it is also important to consider the variation of (VO2Max) profiles for soccer players, with differences having been identified in terms of playing position as well as playing style. This paper reviews the academic literature between 1996 and 2006 and reports on the methodologies employed and the values obtained for stature, body mass and (VO2Max) profiles of soccer players of different positions in professional Brazilian clubs at U-17, U-20 and First Division levels. Indirect measurements accounted for the majority of tests conducted at U-17 (70%) and U-20 (84.6%) levels whereas at First Division level almost half of the (VO2Max) evaluations were performed by direct measurements (47.8%). The mean (VO2Max) profiles obtained for outfield players in U-17 was 56.95 ± 3.60 ml·kg-1·min-1, 58.13 ± 3.21 ml·kg-1·min-1 for U-20 players and 56.58 ± 5.03 ml·kg-1·min-1 for First Division players. In Brazil, the U-20 players appear to have highest VO2Max values, however the profiles reported for all outfield positions in U-17 and First Division levels are often lower than those reported for the same category of players from other countries. This may be a reflection of the style of play used in Brazilian soccer. This is further emphasized by the fact that the playing position with the highest VO2Max values was the external defenders whereas most findings from studies performed in European soccer indicate that midfielders require the highest VO2Max values. Key pointsPhysical and physiological differences exist between Brazilian soccer and European soccer.Players in Brazil appear to be shorter in stature, similar in

  5. Modulation of F1 hybrid stature without altering parent plants through trans-activated expression of a mutated rice GAI homologue.

    PubMed

    Su, Ning; Sullivan, James A; Deng, Xing Wang

    2005-03-01

    Hybrid breeding, by taking advantage of heterosis, brings about many superior properties to the F1 progeny. However, some properties, such as increased plant height, are not desirable for agronomic purposes. To specifically counter the height increase associated with hybrid progeny, we employed an Arabidopsis model and tested a trans-activation system for specifically expressing a mutated GAI gene only in the F1 hybrid plants to reduce plant stature. A transcriptional activator, the Gal4 DNA-binding domain fused to the acidic activation domain of herpes simplex virus VP16 protein, driven by a maize ubiquitin promoter, was introduced in one parental line. A rice GAI homologue with an N-terminal deletion of the DELLA domain, driven by a promoter that is responsive to the transcriptional activator, was transferred into another parental line. After genetic crossing, trans-activation of the GAI mutant gene resulted in a dwarf phenotype. Over 50 pair-wise crosses between the parental lines were performed, and analyses suggested that the percentage of F1 progeny exhibiting dwarfism ranged from about 25% to 100%. Furthermore, the dwarfism trait introduced in F1 progeny did not seem to affect total seed yield. Our result suggests the feasibility of manipulating F1 hybrid progeny traits without affecting parent plants or the agronomic property of the progeny.

  6. Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

    PubMed Central

    Harrison, Karen J.

    2016-01-01

    Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor. We report the case of a four-and-a-half-year-old boy with an interstitial deletion involving the long arm of chromosome 18 (46,XY,del(18)(q21.32q22.1)) encompassing the MC4R gene. This patient presented with tall stature and hyperphagia within his first 18 months of life leading to significant obesity. This case supports haploinsufficiency of MC4-R as it describes a MC4-R deficiency phenotype in a patient heterozygous for a full MC4R gene deletion. The intact functional allele with MC4-R haploinsufficiency has the potential to favor a therapeutic response to gastric surgery. Currently, small molecule MC4-R agonists are under development for pharmacologic therapy. PMID:27738543

  7. [Secular trend of growth in stature in Florianópolis in the state of Santa Catarina (Brazil) in relation with the human development index (HDI)].

    PubMed

    Pinheiro, Andressa Caroline Carneiro; Niederauer, Juliana Minuzzi; Vargas, Deisi Maria

    2014-01-01

    The article seks to evaluate the secular trend of growth in stature of recruits in the 63rd Infantry Battalion in Florianópolis and correlate the information with the human development index (HDI). It involves a transversal and retrospective study of recruits aged between 18 and 20 who joined the 63rd IB in Florianópolis from 1963 to 2007. The sample comprised 600 individuals out of a total of 3000 recruits enlisted over the period. In each decade, three years were selected and within these years the first 40 files were systematically selected for analysis. It was seen that there was an increase in the order of 7 cm in height of recruits in Florianopolis over the past 47 years. This increase was more marked between the decades of 1990 and 2000, with the municipality of Blumenau having the highest average. The average heights study over the decades showed a strong positive correlation with the HDI of Florianopolis during the same period. When comparing the heights of the capital of Santa Catarina and previous studies in Blumenau, it was found that both cities have achieved the same increase of 1.4 cm/decade in the period between the 1960 and 2000. There was a positive secular trend in growth in Florianopolis, with a strong correlation with HDI values of the city between 1960 and 2000.

  8. Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle

    PubMed Central

    Takasuga, Akiko; Sato, Kunio; Nakamura, Ryouichi; Saito, Yosuke; Sasaki, Shinji; Tsuji, Takehito; Suzuki, Akio; Kobayashi, Hiroshi; Matsuhashi, Tamako; Setoguchi, Koji; Okabe, Hiroshi; Ootsubo, Toshitake; Tabuchi, Ichiro; Fujita, Tatsuo; Watanabe, Naoto; Hirano, Takashi; Nishimura, Shota; Watanabe, Toshio; Hayakawa, Makio; Sugimoto, Yoshikazu; Kojima, Takatoshi

    2015-01-01

    Recessive skeletal dysplasia, characterized by joint- and/or hip bone-enlargement, was mapped within the critical region for a major quantitative trait locus (QTL) influencing carcass weight; previously named CW-3 in Japanese Black cattle. The risk allele was on the same chromosome as the Q allele that increases carcass weight. Phenotypic characterization revealed that the risk allele causes disproportional tall stature and bone size that increases carcass weight in heterozygous individuals but causes disproportionately narrow chest width in homozygotes. A non-synonymous variant of FGD3 was identified as a positional candidate quantitative trait nucleotide (QTN) and the corresponding mutant protein showed reduced activity as a guanine nucleotide exchange factor for Cdc42. FGD3 is expressed in the growth plate cartilage of femurs from bovine and mouse. Thus, loss of FDG3 activity may lead to subsequent loss of Cdc42 function. This would be consistent with the columnar disorganization of proliferating chondrocytes in chondrocyte-specific inactivated Cdc42 mutant mice. This is the first report showing association of FGD3 with skeletal dysplasia. PMID:26306008

  9. Are short normal children at a disadvantage? The Wessex growth study.

    PubMed Central

    Downie, A. B.; Mulligan, J.; Stratford, R. J.; Betts, P. R.; Voss, L. D.

    1997-01-01

    OBJECTIVE: To examine whether short stature through childhood represents a disadvantage at around 12 years. DESIGN: Longitudinal non-intervention study of the physical and psychological development of children recruited from the community in 1986-7 after entry into primary school at age 5-6 years; this is the second psychometric assessment made in 1994-5 after entry into secondary school at age 11-13 years. SETTING: Southampton and Winchester health districts. SUBJECTS: 106 short normal children (< 3rd centile for height when recruited) and 119 controls of average stature (10th-90th centile). MAIN OUTCOME MEASURES: Psychometric measures of cognitive development, self concept development, behaviour, and locus of control. RESULTS: The short children did not differ significantly from the control children on measures of self esteem (19.4 v 20.2), self perception (104.2 v 102.4), parents' perception (46.9 v 47.0), or behaviour (6.8 v 5.3). The short children achieved significantly lower scores on measures of intelligence quotient (IQ) (102.6 v 108.6; P < 0.005), reading attainment (44.3 v 47.9; P < 0.002), and basic number skills (40.2 v 43.5; P < 0.003) and displayed less internalisation of control (16.6 v 14.3; P < 0.001) and less satisfaction with their height (P < 0.0001). More short than control children, however, came from working class homes (P < 0.05). Social class was a better predictor than height of all measures except that of body satisfaction. Attainment scores were predicted by class and IQ together rather than by height. Height accounted for some of the variance in IQ and locus of control scores. CONCLUSIONS: These results provide only limited support for the hypothesis that short children are disadvantaged, at least up until 11-13 years old. Social class seems to have more influence than height on children's psychological development. PMID:9006466

  10. Minimizing Shortness of Breath

    MedlinePlus

    ... Top Doctors in the Nation Departments & Divisions Home Health Insights Stress & Relaxation Breathing and Relaxation Minimizing Shortness of Breath ... Management Assess Your Stress Coping Strategies Identifying ... & Programs Health Insights Doctors & Departments Research & Science Education & Training Make ...

  11. SHORT PULSE STRETCHER

    DOEpatents

    Branum, D.R.; Cummins, W.F.

    1962-12-01

    >A short pulse stretching circuit capable of stretching a short puise to enable it to be displayed on a relatively slow sweeping oscilloscope is described. Moreover, the duration of the pulse is increased by charging a capacitor through a diode and thereafter discharging the capacitor at such time as is desired. In the circuit the trigger pulse alone passes through a delay line, whereas the main signal passes through the diode only, and results in over-all circuit losses which are proportional to the low losses of the diode only. (AEC)

  12. Short wavelength laser

    DOEpatents

    Hagelstein, P.L.

    1984-06-25

    A short wavelength laser is provided that is driven by conventional-laser pulses. A multiplicity of panels, mounted on substrates, are supported in two separated and alternately staggered facing and parallel arrays disposed along an approximately linear path. When the panels are illuminated by the conventional-laser pulses, single pass EUV or soft x-ray laser pulses are produced.

  13. Troubling Practices: Short Responses

    ERIC Educational Resources Information Center

    Anderson, Gary; Simic, Lena; Haley, David; Svendsen, Zoe; Neal, Lucy; Samba, Emelda Ngufor

    2012-01-01

    In this "RiDE" themed edition on environmentalism, some short pieces are chosen where practitioners describe their own specific environmental practices. Zoe Svendsen and Lucy Neal point to the positives in two commissioned works ("The Trashcatchers' Carnival" and "3rd Ring Out"), underlining the importance of participant agency for effective…

  14. [The short nose].

    PubMed

    Levet, Y

    2014-12-01

    Short noses are not only depending on the length of the dorsum, but also if there is a saddle deformity, or a too lower situation of the fronto-nasal angle, or an open naso-labial angle or a rim retraction. All the cases are treated, often with the help of cartilage grafts and with a closed approach.

  15. Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.

    PubMed

    Chen, C P; Lin, S P; Chen, M R; Su, Y N; Chern, S R; Liu, Y P; Su, J W; Lee, M S; Wang, W

    2012-01-01

    A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta. PMID:23072190

  16. Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes.

    PubMed

    Gudernova, Iva; Vesela, Iva; Balek, Lukas; Buchtova, Marcela; Dosedelova, Hana; Kunova, Michaela; Pivnicka, Jakub; Jelinkova, Iva; Roubalova, Lucie; Kozubik, Alois; Krejci, Pavel

    2016-01-01

    Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) cause the most common genetic form of human dwarfism, achondroplasia (ACH). Small chemical inhibitors of FGFR tyrosine kinase activity are considered to be viable option for treating ACH, but little experimental evidence supports this claim. We evaluated five FGFR tyrosine kinase inhibitors (TKIs) (SU5402, PD173074, AZD1480, AZD4547 and BGJ398) for their activity against FGFR signaling in chondrocytes. All five TKIs strongly inhibited FGFR activation in cultured chondrocytes and limb rudiment cultures, completely relieving FGFR-mediated inhibition of chondrocyte proliferation and maturation. In contrast, TKI treatment of newborn mice did not improve skeletal growth and had lethal toxic effects on the liver, lungs and kidneys. In cell-free kinase assays as well as in vitro and in vivo cell assays, none of the tested TKIs demonstrated selectivity for FGFR3 over three other FGFR tyrosine kinases. In addition, the TKIs exhibited significant off-target activity when screened against a panel of 14 unrelated tyrosine kinases. This was most extensive in SU5402 and AZD1480, which inhibited DDR2, IGF1R, FLT3, TRKA, FLT4, ABL and JAK3 with efficiencies similar to or greater than those for FGFR. Low target specificity and toxicity of FGFR TKIs thus compromise their use for treatment of ACH. Conceptually, different avenues of therapeutic FGFR3 targeting should be investigated.

  17. Short pulse neutron generator

    DOEpatents

    Elizondo-Decanini, Juan M.

    2016-08-02

    Short pulse neutron generators are described herein. In a general embodiment, the short pulse neutron generator includes a Blumlein structure. The Blumlein structure includes a first conductive plate, a second conductive plate, a third conductive plate, at least one of an inductor or a resistor, a switch, and a dielectric material. The first conductive plate is positioned relative to the second conductive plate such that a gap separates these plates. A vacuum chamber is positioned in the gap, and an ion source is positioned to emit ions in the vacuum chamber. The third conductive plate is electrically grounded, and the switch is operable to electrically connect and disconnect the second conductive plate and the third conductive plate. The at least one of the resistor or the inductor is coupled to the first conductive plate and the second conductive plate.

  18. Short efficient ejector systems

    NASA Technical Reports Server (NTRS)

    Presz, Walter M., Jr.; Morin, Bruce L.; Blinn, Roger F.

    1987-01-01

    A research program was conducted to improve the performance of low pressure ratio ejector systems. The results show that short, efficient ejectors operating at nearly ideal performance are possible through the use of forced mixer lobes. Forced mixer lobes generate large scale axial vorticity which results in rapid mixing and improved diffuser performance. Ejector testing was conducted using both an ejector wind tunnel. Numerous mixer lobe variations were tested to develop lobe design guidelines. The improved performance of mixer-ejectors is presented over a range of operating conditions. Results of mixer lobe angle, penetration, and alignment are presented. Lobe angles of up to 25 deg, coupled with diffuser wall angles over 20 deg, operate without separation, allowing efficient, short ejector systems. Both warm and cold flow test results are presented. Temperature similarity expressions previously developed are further formulated and verified.

  19. Mwatambudzeni's short life.

    PubMed

    Kanchense, Jane Hardina Murigwa

    2007-10-01

    This fictional story depicts a young Zimbabwean girl's short life amid the struggles of poverty, cultural practices, and access to health care. Through Mwatambudzeni's story, we experience her lost educational opportunities, unsuccessful fight against a system of harmful cultural practices, and her premature death caused by lack of available health care services. But it also offers a glimmer of hope as young girls, not wanting to follow in Mwatambudzeni's footsteps, begin to empower themselves through education. PMID:17990615

  20. Short wavelength laser

    DOEpatents

    Hagelstein, Peter L.

    1986-01-01

    A short wavelength laser (28) is provided that is driven by conventional-laser pulses (30, 31). A multiplicity of panels (32), mounted on substrates (34), are supported in two separated and alternately staggered facing and parallel arrays disposed along an approximately linear path (42). When the panels (32) are illuminated by the conventional-laser pulses (30, 31), single pass EUV or soft x-ray laser pulses (44, 46) are produced.

  1. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

    PubMed Central

    2014-01-01

    Background SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance. Case presentation In this study, we used whole-exome sequencing approaches in two patients with clinical features of SHORT syndrome. We report the finding of a novel mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8), as well as a recurrent mutation c.1945C > T (p.Arg649Trp) in this gene. Conclusions We found a novel frameshift mutation in PIK3R1 (c.1929_1933delTGGCA; p.Asp643Aspfs*8) which consists of a deletion right before the site of substrate recognition. As a consequence, the protein lacks the position that interacts with the phosphotyrosine residue of the substrate, resulting in the development of SHORT syndrome. PMID:24886349

  2. Scottish Short Stone Rows

    NASA Astrophysics Data System (ADS)

    Ruggles, Clive L. N.

    Short stone rows received a good deal of attention during the 1980s and 1990s, at a time when archaeoastronomy in prehistoric Britain and Ireland was moving beyond reassessments of Alexander Thom's "megalithic observatories" by identifying coherent groups of similar monuments with clear orientation trends. Many such rows are found in western Scotland, with the main concentration in Argyll and the island of Mull. Systematic analyses of their orientations produced credible evidence of an awareness of the 18.6-year lunar node cycle, within a "primary-secondary" pattern whereby isolated rows were oriented close to moonrise or moonset at the southern major standstill limit, while others oriented in this way were accompanied by a second row oriented in a declination range that could be interpreted either as lunar or solar. A detailed investigation of the landscape situation of the sites in northern Mull, accompanied by excavations at two of the sites, suggested that they were deliberately placed in locations where critical moonsets would be seen against prominent distant landscape features, but where the distant horizon in most or all other directions was hidden from view. A lack of independent archaeological evidence may help to explain why archaeoastronomical investigations at short stone rows have never progressed beyond "data-driven" studies of orientations and landscape situation. Nonetheless, the work that was done at these sites raised important general methodological issues, and pioneered techniques, that remain relevant across archaeoastronomy today.

  3. A gene for cleidocranial dysplasia to the short arm of chromosome 6

    SciTech Connect

    Feldman, G.F.; Muenke, M.; Robin, N.H.; Zackai, E.H. |; Gasser, D.L.; Bailey, C.; Siegel-Bartelt, J.; Brueton, L.A.; Robertson, E.; Thompson, E.M.

    1995-04-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 ({theta} = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. 25 refs., 3 figs., 1 tab.

  4. Short-wave Diathermy

    PubMed Central

    1935-01-01

    It is submitted that the thermal action of short-wave therapy does not account for the therapeutic results obtained. The theory is put forward that many of the results obtained can be better explained by the disruptive and dispersive action of the impact of the electromagnetic vibrations. An analogy, indicating such disruptive effects at high frequency, is drawn from the molecular vibrations—transmitted through transformer oil, and excited by the application of high frequency currents to the layers of quartz in the piezo-electric oscillator of quartz. It is submitted that these disruptive and dispersive effects will be greatest where the conductivity of the tissues is low, such as in bones and fat, and it is shown that it is in these regions that the therapeutic action of these currents is most obvious. It is also pointed out that, if effects, comparable to those obtained in the subcutaneous area, are obtained in the deeper tissues and organs, the application of deep-wave therapy would be attended by serious risk. PMID:19990107

  5. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

    PubMed

    Bremer, Anna; Schoumans, Jacqueline; Nordenskjöld, Magnus; Anderlid, Britt-Marie; Giacobini, Maibritt

    2009-01-01

    Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we report a patient with a 7.1Mb interstitial deletion of chromosome band 6p22.3, detected by genome-wide screening array CGH. The patient is a 4-year-old girl with developmental delay and dysmorphic features including eye abnormalities, short neck, and a ventricular septum defect. The deleted region at 6p22.3 in our patient overlaps with six out of the seven previously reported cases with a 6p22-24 interstitial deletion. This enabled us to further narrow down the critical region for the 6p22 deletion phenotype to 2.2Mb. Twelve genes are mapped to the overlapping deleted region, among them the gene encoding the ataxin-1 protein, the ATXN1 gene. Mice with homozygous deletions in ATXN1 are phenotypically normal but show cognitive delay. Haploinsufficiency of ATXN1 may therefore contribute to the learning difficulties observed in the patients harboring a 6p22 deletion.

  6. Plasma and urinary GH following a standardized exercise protocol to assess GH production in short children.

    PubMed

    Sartorio, A; Palmieri, E; Vangeli, V; Conte, G; Narici, M; Faglia, G

    2001-01-01

    Plasma and urinary GH responses following acute physical exercise were evaluated in 19 short-statured children (12 males, 7 females, median age: 11.4 yr, age range: 6.1-14.5 yr, Tanner stage I-III, height < or = 3rd centile for age; 7 with familial short stature, FSS; 8 with constitutional growth delay, CGD; 4 with GH deficiency, GHD) and 7 normally growing, age- and sex-matched control children (4 males, 3 females, median age 11.0 yr, range: 7.2-13.1 yr, Tanner stage I-III). All patients and controls underwent a standardized exercise protocol (consisting of jogging up and down a corridor for 15 min, strongly encouraged to produce the maximum possible effort, corresponding to 70-80% of the maximal heart rate) after an overnight fasting. Samples for plasma GH determinations were drawn at 0 time (baseline), at 20 min (5 min after the end of exercise) and at 35 min (after 20 min of rest); urine samples were collected before (0 time) and at 40, 80 and 120 min after exercise. The distance covered by children with GHD during the test was significantly lower (p<0.05) than in the other groups of patients and controls. No differences in the pattern of plasma GH responses after physical exercise were found between children with FSS, CGD and healthy controls, the maximum percent increase (vs baseline) being evident at 20 min (median, FSS: +1125%; CGD: +1271%; controls: +571%). Children with GHD showed a smaller percent increase (+94%) of plasma GH, significantly lower (p<0.01) than those recorded in the other groups. A significant percent increase (p<0.01) of baseline urinary GH following exercise was found in children with FSS (median: +34%), CGD (+18%) and controls (+44%). Children with FSS and CGD showed a gradual increase of urinary GH, reaching the maximum at 80 min, while healthy controls had a more evident and precocious increase (maximum at 40 min). Urinary median GH levels did not change following physical exercise in children with GHD (-5%, not significant). A

  7. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

    SciTech Connect

    Sebastio, G.; Perone, L.; Guzzetta, V.

    1996-05-17

    We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. 15 refs., 5 figs., 1 tab.

  8. Short normal children and environmental disadvantage: a longitudinal study of growth and cognitive development from 4 to 11 years.

    PubMed

    Dowdney, L; Skuse, D; Morris, K; Pickles, A

    1998-10-01

    The aim of this investigation was to follow up a sample of exceptionally short but medically healthy children, and a normal comparison group, previously studied at 4 years of age. They lived in an inner-city area which was, on objective criteria, seriously disadvantaged in socioeconomic terms. When first seen at 4 years, cases were significantly impaired in cognitive abilities relative to comparisons, although firstborns were much less severely affected. Of the original 46 cases, 45 were assessed again at 11 years. Most continued to live in the same geographical area. Case children remained exceptionally short, even when parental stature was taken into account, although a degree of catch-up had occurred. One third had special educational needs, and a similar proportion had been referred for speech therapy. Verbal and nonverbal cognitive skills of both case and comparison children had, on the whole, changed little and group differences persisted. In conclusion, short normal children from socioeconomically disadvantaged backgrounds are at high risk of educational failure at elementary school. PMID:9804034

  9. Short Stories in the Classroom.

    ERIC Educational Resources Information Center

    Hamilton, Carole L., Ed.; Kratzke, Peter, Ed.

    Examining how teachers help students respond to short fiction, this book presents 25 essays that look closely at "teachable" short stories by a diverse group of classic and contemporary writers. The approaches shared by the contributors move from readers' first personal connections to a story, through a growing facility with the structure of…

  10. Dechirper wakefields for short bunches

    NASA Astrophysics Data System (ADS)

    Bane, Karl; Stupakov, Gennady

    2016-06-01

    In previous work (Bane and Stupakov, 2015 [1]) general expressions, valid for arbitrary bunch lengths, were derived for the wakefields of corrugated structures with flat geometry, such as is used in the RadiaBeam/LCLS dechirper. However, the bunch at the end of linac-based X-ray FELs-like the LCLS-is extremely short, and for short bunches the wakes can be considerably simplified. In this work, we first derive analytical approximations to the short-range wakes. These are generalized wakes, in the sense that their validity is not limited to a small neighborhood of the symmetry axis, but rather extends to arbitrary transverse offsets of driving and test particles. The validity of these short-bunch wakes holds not only for the corrugated structure, but rather for any flat structure whose beam-cavity interaction can be described by a surface impedance. We use these wakes to obtain, for a short bunch passing through a dechirper: estimates of the energy loss as function of gap, the transverse kick as a function of beam offset, the slice energy spread increase, and the emittance growth. In the Appendix, a more accurate derivation-than that is found in Bane and Stupakov (2015) [1]-of the arbitrary bunch length wakes is performed; we find full agreement with the earlier results, provided the bunches are short compared to the dechirper gap, which is normally the regime of interest.

  11. Magnet Coil Shorted Turn Detector

    SciTech Connect

    Dinkel, J.A.; Biggs, J.E.

    1994-03-01

    The Magnet Coil Shorted Turn Detector has been developed to facilitate the location of shorted turns in magnet coils. Finding these shorted turns is necessary to determine failure modes that are a necessary step in developing future production techniques. Up to this point, coils with shorted turns had the insulation burned off without the fault having been located. This disassembly process destroyed any chance of being able to find the fault. In order to maintain a flux balance in a coupled system such as a magnet coil, the current in a shorted turn must be opposed to the incident current. If the direction of the current in each conductor can be measured relative to the incident current, then the exact location of the short can be determined. In this device, an AC voltage is applied to the magnet under test. A small hand held B-dot pickup coil monitors the magnetic field produced by current in the individual magnet conductors. The relative phase of this pickup coil voltage is compared to a reference signal derived from the input current to detect a current reversal as the B-dot pickup coil is swept over the conductors of the coil under test. This technique however, is limited to only those conductors that are accessible to the hand held probe.

  12. Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.

    PubMed

    Madrigal, Irene; Fernández-Burriel, Miguel; Rodriguez-Revenga, Laia; Cabrera, Jose Carlos; Martí, Milagros; Mur, Antonio; Milà, Montserrat

    2010-12-01

    Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes.

  13. The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

    PubMed

    Al Mosawi, A J; Fewin, L

    2009-10-01

    Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenital anomaly syndrome of unknown etiology with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilateral developmental dysplasia of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.

  14. Prader–Willi syndrome

    PubMed Central

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    Prader–Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2–q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect. PMID:18781185

  15. Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader-Willi Syndrome

    PubMed Central

    Fan, Weiwei; Coskun, Pinar E.; Nalbandian, Angèle; Knoblach, Susan; Resnick, James L.; Hoffman, Eric; Wallace, Douglas C.; Kimonis, Virginia E.

    2013-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder caused by deficiency of imprinted gene expression from the paternal chromosome 15q11-15q13 and clinically characterized by neonatal hypotonia, short stature, cognitive impairment, hypogonadism, hyperphagia, morbid obesity and diabetes. Previous clinical studies suggest that a defect in energy metabolism may be involved in the pathogenesis of PWS. We focused our attention on the genes associated with energy metabolism and found that there were 95 and 66 mitochondrial genes differentially expressed in PWS muscle and brain, respectively. Assessment of enzyme activities of mitochondrial oxidative phosphorylation (OXPHOS) complexes in the brain, heart, liver and muscle were assessed. We found the enzyme activities of the cardiac mitochondrial complexes II+III were upregulated in the imprinting center deletion (PWS-IC) mice compared to the wild type littermates. These studies suggest that differential gene expression, especially of the mitochondrial genes may contribute to the pathophysiology of PWS. PMID:24127921

  16. Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control.

    PubMed

    Smith, Michaele R; Hildenbrand, Hanna; Smith, Ann C M

    2009-01-01

    Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors. Physical and occupational therapists provide services for children who have the syndrome, whose genetic disorder is frequently not identified or diagnosed before 1 year of age. A comprehensive physical and occupational therapy evaluation was completed in nonidentical twins with one having SMS, using the Sensory Profile; Brief Assessment of Motor Function (BAMF); Peabody Developmental Motor Scales, Second Edition (PDMS-2); and Pediatric Evaluation of Disability Inventory (PEDI). This provides a framework for conducting assessments to enhance early detection and interdisciplinary management with this specialized population.

  17. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  18. Long Swarms and Short Swarms

    NASA Astrophysics Data System (ADS)

    McNutt, S. R.

    2011-12-01

    Many earthquake swarms at volcanoes last several months, then have a sharp uptick in rate in the hours before eruption. Examples include 2006 Augustine, 8.5 months then 10 hours; 1992 Spurr, 10 months then 4 hours; 1994 Rabaul, ~1 year then 27 hours; 2008 Kasatochi, 6 weeks then 2 days; and 2011 Puyuehue Cordon Caulle, 5 weeks then 2 days. For the well studied Augustine case, broadband data showed that very long period (VLP) energy accompanied 221 of 722 located earthquakes in the 10 hours before the first explosive eruption on 11 January 2006. This was revealed by low-pass filtering and the period of the VLP signal was 50 sec. The Augustine broadband stations were campaign instruments at distances of 2-3 km from the vent. No similar VLP energy has been found in events during the 8.5 month long swarm. Okmok volcano had a short swarm only lasting 5 hours prior to its 12 July 2008 eruption. Low-pass filtering of data from broadband station OKSO, 10 km from the vent, showed that 23 of 42 located events had VLP energy with a period of 30-40 sec. Events from Kasatochi volcano were scanned on station ATKA. Here the broadband station is much farther away at 88 km but the earthquakes in the short swarm 7 August 2008 were much larger with many M>3 events. The station suffered data gaps so only a few hours of data were scanned but numerous events were observed with VLP energy starting just after the P phase. Low-pass filtering showed VLP energy with a period of 10-12 sec. No VLP energy has been found in events of the preceding 6 week long swarm. These observations at three different volcanoes suggest that the short swarms represent a different process than the long swarms. The long swarms likely reflect pressure increases in the surrounding country rock caused by increasing magma pressure. The short swarms in contrast, appear to represent discrete pulses of magma injection at shallow depths. For all three volcanoes the earthquakes looked like typical volcano-tectonic (VT

  19. Short-Term Vocational Evaluation.

    ERIC Educational Resources Information Center

    Botterbusch, Karl F.

    This guide is intended to assist vocational rehabilitation counselors in planning and conducting short-term vocational evaluations of clients. The first section discusses the elements that must be included in a comprehensive vocational evaluation. Next, strategies for conducting a vocational evaluation are explained. The next section, a case study…

  20. Towards short wavelengths FELs workshop

    SciTech Connect

    Ben-Zvi, I.; Winick, H.

    1993-12-01

    This workshop was caged because of the growing perception in the FEL source community that recent advances have made it possible to extend FEL operation to wavelengths about two orders of magnitude shorter than the 240 nm that has been achieved to date. In addition short wavelength FELs offer the possibilities of extremely high peak power (several gigawatts) and very short pulses (of the order of 100 fs). Several groups in the USA are developing plans for such short wavelength FEL facilities. However, reviewers of these plans have pointed out that it would be highly desirable to first carry out proof-of-principle experiments at longer wavelengths to increase confidence that the shorter wavelength devices will indeed perform as calculated. The need for such experiments has now been broadly accepted by the FEL community. Such experiments were the main focus of this workshop as described in the following objectives distributed to attendees: (1) Define measurements needed to gain confidence that short wavelength FELs will perform as calculated. (2) List possible hardware that could be used to carry out these measurements in the near term. (3) Define a prioritized FEL physics experimental program and suggested timetable. (4) Form collaborative teams to carry out this program.

  1. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

    PubMed

    Krakow, D; Salazar, D; Wilcox, W R; Rimoin, D L; Cohn, D H

    2000-08-01

    Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and renal anomalies. Linkage analysis has localized the disease gene to chromosome 4p16, with the markers at loci D4S827 and D4S3135 defining the centromeric and telomeric limits of the linked interval, respectively. There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. We performed linkage analysis using markers from the EVC region in seven families manifesting either ATD or SRP type III. In two of the families, one segregating ATD and one SRP kindred, linkage of the phenotype to the EVC region was excluded. In the other five families linkage of the phenotype to the EVC region could not be excluded, but the families were too small for linkage to the region to be established. The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders.

  2. Review of short wavelength lasers

    SciTech Connect

    Hagelstein, P.L.

    1985-03-18

    There has recently been a substantial amount of research devoted to the development of short wavelength amplifiers and lasers. A number of experimental results have been published wherein the observation of significant gain has been claimed on transitions in the EUV and soft x-ray regimes. The present review is intended to discuss the main approaches to the creation of population inversions and laser media in the short wavelength regime, and hopefully aid workers in the field by helping to provide access to a growing literature. The approaches to pumping EUV and soft x-ray lasers are discussed according to inversion mechanism. The approaches may be divided into roughly seven categories, including collisional excitation pumping, recombination pumping, direct photoionization and photoexcitation pumping, metastable state storage plus optical pumping, charge exchange pumping, and finally, the extension of free electron laser techniques into the EUV and soft x-ray regimes. 250 references.

  3. Stretching short DNAs in electrolytes.

    PubMed

    Wang, Jizeng; Fan, Xiaojun; Gao, Huajian

    2006-03-01

    This paper is aimed at a combined theoretical and numerical study of the force-extension relation of a short DNA molecule stretched in an electrolyte. A theoretical formula based on a recent discrete wormlike chain (WLC) model of Kierfeld et al. (Eur Phys. J. E, Vol. 14, pp.17-34, 2004) and the classical OSF mean-field theory on electrostatic stiffening of a charged polymer is numerically verified by a set of Brownian dynamics simulations based on a generalized bead-rod (GBR) model incorporating long-ranged electrostatic interactions via the Debye-Hueckel potential (DH). The analysis indicates that the stretching of a short DNA can be well described as a WLC with a constant effective persistent length. This contrasts the behavior of long DNA chains that are known to exhibit variable persistent lengths depending on the ion concentration levels and force magnitudes. PMID:16711068

  4. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.

    PubMed

    Ioannides, Yiannis; Lokulo-Sodipe, Kemi; Mackay, Deborah J G; Davies, Justin H; Temple, I Karen

    2014-08-01

    Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis and potentially improve treatment. We found a median birth weight SD score (SDS) of -1.88 and median adult final height of -2.04 SDS. Hypotonia and motor delay were reported in 93% and 83% of cases, respectively. Early puberty was reported in 86% of cases with the mean age of menarche at 10 years and 2 months of age. Small hands and feet were reported frequently (87% and 96%, respectively). Premature birth was common (30%) and feeding difficulties frequently reported (n = 22). There was evidence of mildly reduced intellectual ability (measured IQ 75-95). Obesity was reported in 49% of cases, and three patients developed type 2 diabetes mellitus. Two patients were reported to have recurrent hypoglycaemia, and one of these patients was subsequently demonstrated to be growth hormone deficient and started replacement therapy. We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required.

  5. An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.

    PubMed

    Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

  6. An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.

    PubMed

    Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. PMID:27453871

  7. Deeper look into short strings

    NASA Astrophysics Data System (ADS)

    Gromov, Nikolay; Valatka, Saulius

    2012-03-01

    Using a recent conjecture of Basso we compute three leading nontrivial coefficients in the strong coupling expansion of the anomalous dimensions of short operators in the [InlineMediaObject not available: see fulltext.] sector of AdS/CFT. We show that our results are consistent with the numerical results obtained using the Y-system and TBA approach earlier thus providing further support to the Y-system conjecture.

  8. Short arc optical survey techniques

    NASA Technical Reports Server (NTRS)

    Berbert, J. H.; Loveless, F. M.

    1971-01-01

    The effect of the gravity parameter, mu, the choice and local survey of the fixed origin station, and the choice of initial datum on the results of short arc satellite survey adjustments were investigated using GEOS 1 MOTS optical observations from 13 stations. It is concluded that each of these parameters has an effect on derived network scale on the order of 0.000002 for the nominal variations used. A particular solution using assumed best available values for these parameters is recommended.

  9. Short-range communication system

    NASA Technical Reports Server (NTRS)

    Alhorn, Dean C. (Inventor); Howard, David E. (Inventor); Smith, Dennis A. (Inventor)

    2012-01-01

    A short-range communication system includes an antenna, a transmitter, and a receiver. The antenna is an electrical conductor formed as a planar coil with rings thereof being uniformly spaced. The transmitter is spaced apart from the plane of the coil by a gap. An amplitude-modulated and asynchronous signal indicative of a data stream of known peak amplitude is transmitted into the gap. The receiver detects the coil's resonance and decodes same to recover the data stream.

  10. Orogeny can be very short

    PubMed Central

    Dewey, John F.

    2005-01-01

    In contrast to continent/continent collision, arc–continent collision generates very short-lived orogeny because the buoyancy-driven impedance of the subduction of continental lithosphere, accompanied by arc/suprasubduction-zone ophiolite obduction, is relieved by subduction polarity reversal (flip). This tectonic principle is illustrated by the early Ordovician Grampian Orogeny in the British and Irish Caledonides, in which a wealth of detailed sedimentologic, heavy mineral, and geochronologic data pin the Orogeny to a very short Arenig/Llanvirn event. The Orogeny, from the initial subduction of continental margin sediments to the end of postflip shortening, lasted ≈18 million years (my). The collisional shortening, prograde-metamorphic phase of the Orogeny lasted 8 my, extensional collapse and exhumation of midcrustal rocks lasted 1.5 my, and postflip shortening lasted 4.5 my. Strain rates were a typical plate-boundary-zone 10-15. Metamorphism, to the second sillimanite isograd, with extensive partial melting, occurred within a few my after initial collision, indicating that conductive models for metamorphic heat transfer in Barrovian terrains are incorrect and must be replaced by advective models in which large volumes of mafic/ultramafic magma are emplaced, syn-tectonically, below and into evolving nappe stacks. Arc/continent collision generates fast and very short orogeny, regional metamorphism, and exhumation. PMID:16126898

  11. Orogeny can be very short.

    PubMed

    Dewey, John F

    2005-10-25

    In contrast to continent/continent collision, arc-continent collision generates very short-lived orogeny because the buoyancy-driven impedance of the subduction of continental lithosphere, accompanied by arc/suprasubduction-zone ophiolite obduction, is relieved by subduction polarity reversal (flip). This tectonic principle is illustrated by the early Ordovician Grampian Orogeny in the British and Irish Caledonides, in which a wealth of detailed sedimentologic, heavy mineral, and geochronologic data pin the Orogeny to a very short Arenig/Llanvirn event. The Orogeny, from the initial subduction of continental margin sediments to the end of postflip shortening, lasted approximately 18 million years (my). The collisional shortening, prograde-metamorphic phase of the Orogeny lasted 8 my, extensional collapse and exhumation of midcrustal rocks lasted 1.5 my, and postflip shortening lasted 4.5 my. Strain rates were a typical plate-boundary-zone 10(-15). Metamorphism, to the second sillimanite isograd, with extensive partial melting, occurred within a few my after initial collision, indicating that conductive models for metamorphic heat transfer in Barrovian terrains are incorrect and must be replaced by advective models in which large volumes of mafic/ultramafic magma are emplaced, syn-tectonically, below and into evolving nappe stacks. Arc/continent collision generates fast and very short orogeny, regional metamorphism, and exhumation.

  12. Orogeny can be very short.

    PubMed

    Dewey, John F

    2005-10-25

    In contrast to continent/continent collision, arc-continent collision generates very short-lived orogeny because the buoyancy-driven impedance of the subduction of continental lithosphere, accompanied by arc/suprasubduction-zone ophiolite obduction, is relieved by subduction polarity reversal (flip). This tectonic principle is illustrated by the early Ordovician Grampian Orogeny in the British and Irish Caledonides, in which a wealth of detailed sedimentologic, heavy mineral, and geochronologic data pin the Orogeny to a very short Arenig/Llanvirn event. The Orogeny, from the initial subduction of continental margin sediments to the end of postflip shortening, lasted approximately 18 million years (my). The collisional shortening, prograde-metamorphic phase of the Orogeny lasted 8 my, extensional collapse and exhumation of midcrustal rocks lasted 1.5 my, and postflip shortening lasted 4.5 my. Strain rates were a typical plate-boundary-zone 10(-15). Metamorphism, to the second sillimanite isograd, with extensive partial melting, occurred within a few my after initial collision, indicating that conductive models for metamorphic heat transfer in Barrovian terrains are incorrect and must be replaced by advective models in which large volumes of mafic/ultramafic magma are emplaced, syn-tectonically, below and into evolving nappe stacks. Arc/continent collision generates fast and very short orogeny, regional metamorphism, and exhumation. PMID:16126898

  13. Short-term responses of wetland vegetation after liming of an Adirondack watershed

    SciTech Connect

    Mackun, I.R.; Leopold, D.J.; Raynal, D.J. )

    1994-08-01

    Watershed liming has been suggested as a long-term mitigation strategy for lake acidity, particularly in areas subject to high levels of acidic deposition. However, virtually no information has been available on the impacts of liming on wetland vegetation. In 1989, 1100 Mg of limestone (83.5% CaCO[sub 3]) were aerially applied to 48% (100 ha) of the Woods Lake watershed in the west-central Adirondack region of New York as part of the first comprehensive watershed liming study in North America. We inventoried wetland vegetation in 1.0-m[sup 2] plots before liming and during the subsequent 2 yr. Within this period liming influenced the cover, frequency, or importance values of only 6 of 64 wetland taxa. The cover of Sphagnum spp. and of the cespitose sedge Carex interior decreased in control relative to limed plots, and cover of the rhizomatous sedge Cladium mariscoides increased nearly threefold in limed areas. These two sedges, which are relatively tall, are characteristic of more calcareous habitats. Cover of the grass Muhlenbergia uniflora, cover and importance were adversely affected or inhibited by lime. It is unclear whether liming directly inhibited the growth of these three small-statured species, or whether the adverse effects of lime were mediated through shifts in competitive interactions with other species. The limited responses that we observed to liming, along with changes that occurred in control plots over the study period, may indicate that in the short term watershed liming was no more of a perturbation than the environmental factors responsible for natural annual variation in wetland communities.

  14. Recycler short kicker beam impedance

    SciTech Connect

    Crisp, Jim; Fellenz, Brian; /Fermilab

    2009-07-01

    Measured longitudinal and calculated transverse beam impedance is presented for the short kicker magnets being installed in the Fermilab Recycler. Fermi drawing number ME-457159. The longitudinal impedance was measured with a stretched wire and the Panofsky equation was used to estimate the transverse impedance. The impedance of 3319 meters (the Recycler circumference) of stainless vacuum pipe is provided for comparison. Although measurements where done to 3GHz, impedance was negligible above 30MHz. The beam power lost to the kicker impedance is shown for a range of bunch lengths. The measurements are for one kicker assuming a rotation frequency of 90KHz. Seven of these kickers are being installed.

  15. Ultra-short pulse generator

    DOEpatents

    McEwan, Thomas E.

    1993-01-01

    An inexpensive pulse generating circuit is disclosed that generates ultra-short, 200 picosecond, and high voltage 100 kW, pulses suitable for wideband radar and other wideband applications. The circuit implements a nonlinear transmission line with series inductors and variable capacitors coupled to ground made from reverse biased diodes to sharpen and increase the amplitude of a high-voltage power MOSFET driver input pulse until it causes non-destructive transit time breakdown in a final avalanche shockwave diode, which increases and sharpens the pulse even more.

  16. Ultra-short pulse generator

    DOEpatents

    McEwan, T.E.

    1993-12-28

    An inexpensive pulse generating circuit is disclosed that generates ultra-short, 200 picosecond, and high voltage 100 kW, pulses suitable for wideband radar and other wideband applications. The circuit implements a nonlinear transmission line with series inductors and variable capacitors coupled to ground made from reverse biased diodes to sharpen and increase the amplitude of a high-voltage power MOSFET driver input pulse until it causes non-destructive transit time breakdown in a final avalanche shock wave diode, which increases and sharpens the pulse even more. 5 figures.

  17. Short Oral Presentations of Posters

    NASA Astrophysics Data System (ADS)

    Yoshida, Tetsuya

    Short oral presentations of six posters (3 min. each) 1. A Balloon-borne Limb-Emission Sounder at 650-GHz band for Stratospheric observations by Y. Irimajiri 2. Variations in the ascent rates of balloons over Hyderabad by R.K. Manchanda 3. Study of vertical profiles of aerosols using tethersonde over Bay of Bengal by R.K. Manchanda 4. Polar Stratospheric Research Platforms -Ballooning in the Polar Regions by S. Peterzen 5. Balloon-borne CALET prototype payload (bCALET) by Y. Ueyama 6. Venera-D : the future Russian mission to Venus by L. Zasova

  18. Short rotation Wood Crops Program

    SciTech Connect

    Wright, L.L.; Ehrenshaft, A.R.

    1990-08-01

    This report synthesizes the technical progress of research projects in the Short Rotation Woody Crops Program for the year ending September 30, 1989. The primary goal of this research program, sponsored by the US Department of Energy's Biofuels and Municipal Waste Technology Division, is the development of a viable technology for producing renewable feedstocks for conversion to biofuels. One of the more significant accomplishments was the documentation that short-rotation woody crops total delivered costs could be $40/Mg or less under optimistic but attainable conditions. By taking advantage of federal subsidies such as those offered under the Conservation Reserve Program, wood energy feedstock costs could be lower. Genetic improvement studies are broadening species performance within geographic regions and under less-than-optimum site conditions. Advances in physiological research are identifying key characteristics of species productivity and response to nutrient applications. Recent developments utilizing biotechnology have achieved success in cell and tissue culture, somaclonal variation, and gene-insertion studies. Productivity gains have been realized with advanced cultural studies of spacing, coppice, and mixed-species trials. 8 figs., 20 tabs.

  19. Coulomb repulsion in short polypeptides.

    PubMed

    Norouzy, Amir; Assaf, Khaleel I; Zhang, Shuai; Jacob, Maik H; Nau, Werner M

    2015-01-01

    Coulomb repulsion between like-charged side chains is presently viewed as a major force that impacts the biological activity of intrinsically disordered polypeptides (IDPs) by determining their spatial dimensions. We investigated short synthetic models of IDPs, purely composed of ionizable amino acid residues and therefore expected to display an extreme structural and dynamic response to pH variation. Two synergistic, custom-made, time-resolved fluorescence methods were applied in tandem to study the structure and dynamics of the acidic and basic hexapeptides Asp6, Glu6, Arg6, Lys6, and His6 between pH 1 and 12. (i) End-to-end distances were obtained from the short-distance Förster resonance energy transfer (sdFRET) from N-terminal 5-fluoro-l-tryptophan (FTrp) to C-terminal Dbo. (ii) End-to-end collision rates were obtained for the same peptides from the collision-induced fluorescence quenching (CIFQ) of Dbo by FTrp. Unexpectedly, the very high increase of charge density at elevated pH had no dynamical or conformational consequence in the anionic chains, neither in the absence nor in the presence of salt, in conflict with the common view and in partial conflict with accompanying molecular dynamics simulations. In contrast, the cationic peptides responded to ionization but with surprising patterns that mirrored the rich individual characteristics of each side chain type. The contrasting results had to be interpreted, by considering salt screening experiments, N-terminal acetylation, and simulations, in terms of an interplay of local dielectric constant and peptide-length dependent side chain charge-charge repulsion, side chain functional group solvation, N-terminal and side chain charge-charge repulsion, and side chain-side chain as well as side chain-backbone interactions. The common picture that emerged is that Coulomb repulsion between water-solvated side chains is efficiently quenched in short peptides as long as side chains are not in direct contact with each

  20. Effective visualization of short routes.

    PubMed

    Degener, Patrick; Schnabel, Ruwen; Schwartz, Christopher; Klein, Reinhard

    2008-01-01

    In this work we develop a new alternative to conventional maps for visualization of relatively short paths as they are frequently encountered in hotels, resorts or museums. Our approach is based on a warped rendering of a 3D model of the environment such that the visualized path appears to be straight even though it may contain several junctions. This has the advantage that the beholder of the image gains a realistic impression of the surroundings along the way which makes it easy to retrace the route in practice. We give an intuitive method for generation of such images and present results from user studies undertaken to evaluate the benefit of the warped images for orientation in unknown environments.

  1. Shapeable short circuit resistant capacitor

    SciTech Connect

    Taylor, Ralph S.; Myers, John D.; Baney, William J.

    2015-10-06

    A ceramic short circuit resistant capacitor that is bendable and/or shapeable to provide a multiple layer capacitor that is extremely compact and amenable to desirable geometries. The capacitor that exhibits a benign failure mode in which a multitude of discrete failure events result in a gradual loss of capacitance. Each event is a localized event in which localized heating causes an adjacent portion of one or both of the electrodes to vaporize, physically cleaning away electrode material from the failure site. A first metal electrode, a second metal electrode, and a ceramic dielectric layer between the electrodes are thin enough to be formed in a serpentine-arrangement with gaps between the first electrode and the second electrode that allow venting of vaporized electrode material in the event of a benign failure.

  2. Electronic cigarettes: a short review.

    PubMed

    Bertholon, J F; Becquemin, M H; Annesi-Maesano, I; Dautzenberg, B

    2013-01-01

    Marketed since 2004 as an alternative to nicotine delivery and advertised as a valid means to smoking cessation, the electronic (e)-cigarette has been the subject of much controversy but very little experimental study. This review provides a brief summary of the current knowledge of this product. Propylene glycol and glycerol, the main ingredients of the fluid that is vaporized, have proved to be harmless in the fog machines of the entertainment industry. However, in the case of the e-cigarette fluid, the composition is not properly labeled: additives like nicotine and flavors vary between and within brands and contamination with various chemicals has been detected. The short-term toxicity seems low, but the long-term toxicity is unknown. The usefulness of the e-cigarette in smoking cessation has still to be clinically established.

  3. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 1 2010-10-01 2010-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  4. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 46 Shipping 1 2013-10-01 2013-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  5. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 46 Shipping 1 2011-10-01 2011-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  6. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 46 Shipping 1 2014-10-01 2014-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed with the...

  7. 46 CFR 15.725 - Sailing short.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 46 Shipping 1 2012-10-01 2012-10-01 false Sailing short. 15.725 Section 15.725 Shipping COAST... Limitations and Qualifying Factors § 15.725 Sailing short. Whenever a vessel is deprived of the service of a... vessel is sufficiently manned for the voyage. A report of sailing short must be filed in writing with...

  8. A Short Story with Long Results

    ERIC Educational Resources Information Center

    Jackman, Norma F.

    1972-01-01

    After reading a short story, a sixth grade class became involved in an avid discussion, a debate, and dramatic play - all based on the short story. A vast amount of learning had taken place through the study of a single short story. (Author/DR)

  9. Approaches to Teaching the Short Story.

    ERIC Educational Resources Information Center

    Matthews, Dorothy, Ed.

    1983-01-01

    Approached from a variety of perspectives, the first nine articles in this special journal issue focus on teaching the short story. Specific topics discussed in the articles are (1) the AIM game as a prereading strategy for teaching the short story, (2) short story readers and writers as partners in the act of artistic communication, (3) oral…

  10. Postfamine stature and socioeconomic status in Ireland.

    PubMed

    Young, Kristin; Relethford, John H; Crawford, Michael H

    2008-01-01

    Previous research has documented socioeconomic stratification of secular trend in height in historical populations. Using data from 4,900 males and 1,430 females born between 1840 and 1910 collected as part of the Harvard Anthropological Survey of Ireland (1934-1936), this study examined the secular changes in postfamine Ireland using several socioeconomic variables, including: occupation, migration, education, siblings, birthplace, and occupation of father and mother's father. Correlations were also calculated between height and various historical economic indices. Significant differences in the height of Irish males were found by occupation, education, and socioeconomic status of father and maternal grandfather. Males employed in agriculture, or whose fathers or grandfathers were so employed, were significantly taller than other males. For the smaller female sample, only occupation and grandfather's socioeconomic status had a significant impact on height. An inverse correlation was also found between the British Cost of Living Index (BCL) and male heights. Our results suggest that availability of resources plays an important role in the overall nutritional status reflected in terminal adult height.

  11. Authority Grab Eroding Stature of State Boards

    ERIC Educational Resources Information Center

    McNeil, Michele

    2008-01-01

    This article reports on the eroding power of state school boards in the U.S. as lawmakers and governors are seeking to expand their authority over K-12 education and, in some cases, reverse education policy set in motion by elected or appointed panels. This year alone, state boards in Florida, Ohio, and Vermont are targets of legislation that…

  12. Short-Lived Climate Pollution

    NASA Astrophysics Data System (ADS)

    Pierrehumbert, R. T.

    2014-05-01

    Although carbon dioxide emissions are by far the most important mediator of anthropogenic climate disruption, a number of shorter-lived substances with atmospheric lifetimes of under a few decades also contribute significantly to the radiative forcing that drives climate change. In recent years, the argument that early and aggressive mitigation of the emission of these substances or their precursors forms an essential part of any climate protection strategy has gained a considerable following. There is often an implication that such control can in some way make up for the current inaction on carbon dioxide emissions. The prime targets for mitigation, known collectively as short-lived climate pollution (SLCP), are methane, hydrofluo-rocarbons, black carbon, and ozone. A re-examination of the issues shows that the benefits of early SLCP mitigation have been greatly exaggerated, largely because of inadequacies in the methodologies used to compare the climate effects of short-lived substances with those of CO2, which causes nearly irreversible climate change persisting millennia after emissions cease. Eventual mitigation of SLCP can make a useful contribution to climate protection, but there is little to be gained by implementing SLCP mitigation before stringent carbon dioxide controls are in place and have caused annual emissions to approach zero. Any earlier implementation of SLCP mitigation that substitutes to any significant extent for carbon dioxide mitigation will lead to a climate irreversibly warmer than will a strategy with delayed SLCP mitigation. SLCP mitigation does not buy time for implementation of stringent controls on CO2 emissions.

  13. Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

    PubMed Central

    Bondy, Carolyn; Bakalov, Vladimir K; Cheng, Clara; Olivieri, Laura; Rosing, Douglas R; Arai, Andrew E

    2013-01-01

    Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established. Design We used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on 50-metaphase analyses: 45,X (n=152); 46,X,del(Xp) (n=15); 46,X,del(Xq) (n=4); and 46,X,i(Xq) (n=14) from peripheral blood cells. Results Bicuspid aortic valves (BAV) were found in 52/152 (34%) 45,X study subjects and aortic coarctation (COA) in 19/152 (12.5%). Isolated anomalous pulmonary veins (APV) were detected in 15/152 (10%) for the 45,X study group, and this defect was not correlated with the presence of BAV or COA. BAVs were present in 28.6% of subjects with Xp deletions and COA in 6.7%. APV were not found in subjects with Xp deletions. The most distal break associated with the BAV/COA trait was at cytologic band Xp11.4 and ChrX:41,500 000. One of 14 subjects (7%) with the 46,X,i(Xq) karyotype had a BAV and no cases of COA or APV were found in this group. No cardiovascular defects were found among four patients with Xq deletions. Conclusions The high prevalence of BAV and COA in subjects missing only the X chromosome short arm indicates that haploinsufficiency for Xp genes contributes to abnormal aortic valve and aortic arch development in TS. PMID:23825392

  14. Drop short control of electrode gap

    DOEpatents

    Fisher, Robert W.; Maroone, James P.; Tipping, Donald W.; Zanner, Frank J.

    1986-01-01

    During vacuum consumable arc remelting the electrode gap between a consumable electrode and a pool of molten metal is difficult to control. The present invention monitors drop shorts by detecting a decrease in the voltage between the consumable electrode and molten pool. The drop shorts and their associated voltage reductions occur as repetitive pulses which are closely correlated to the electrode gap. Thus, the method and apparatus of the present invention controls electrode gap based upon drop shorts detected from the monitored anode-cathode voltage. The number of drop shorts are accumulated, and each time the number of drop shorts reach a predetermined number, the average period between drop shorts is calculated from this predetermined number and the time in which this number is accumulated. This average drop short period is used in a drop short period electrode gap model which determines the actual electrode gap from the drop short. The actual electrode gap is then compared with a desired electrode gap which is selected to produce optimum operating conditions and the velocity of the consumable error is varied based upon the gap error. The consumable electrode is driven according to any prior art system at this velocity. In the preferred embodiment, a microprocessor system is utilized to perform the necessary calculations and further to monitor the duration of each drop short. If any drop short exceeds a preset duration period, the consumable electrode is rapidly retracted a predetermined distance to prevent bonding of the consumable electrode to the molten remelt.

  15. Effects of Growth Hormone in Chronically Ill Children

    ClinicalTrials.gov

    2006-02-01

    - Hurler Syndrome (MPS-1) With Short Stature and Muscle Wasting; - Cerebral Palsy With Muscle Wasting; - Juvenile Rheumatoid Arthritis With Muscle Wasting and Short Stature; - Crohn’s Disease; - HIV Infection.

  16. MRI Biosensors: A Short Primer

    PubMed Central

    Louie, Angelique

    2013-01-01

    Interest in Magnetic Resonance Imaging (MRI) contrast agents for molecular imaging of biological function experienced a surge of excitement approximately 20 years ago with the development of the first activatable contrast agents that could act as biosensors and turn “on” in response to a specific biological activity. This brief tutorial, based on a short course lecture from the 2011 ISMRM meeting, provides an overview of underlying principles governing the design of biosensing contrast agents. We describe mechanisms by which a magnetic resonance imaging (MRI) contrast agent can be made into a sensor for both T1 and T2 types contrast agents. Examples of biological activities that can interact with a contrast agent are discussed using specific examples from the recent literature to illustrate the primary mechanisms of action that have been utilized to achieve activation. MRI sensors for pH, ion binding, enzyme cleavage, and oxidation-reduction are presented. This article is not meant to be an exhaustive review, but an illustrative primer to explain how activation can be achieved for an MRI contrast agent. Chemical exchange saturation transfer (CEST) is not covered as these agents were covered in a separate lecture. PMID:23996662

  17. Long short-term memory.

    PubMed

    Hochreiter, S; Schmidhuber, J

    1997-11-15

    Learning to store information over extended time intervals by recurrent backpropagation takes a very long time, mostly because of insufficient, decaying error backflow. We briefly review Hochreiter's (1991) analysis of this problem, then address it by introducing a novel, efficient, gradient-based method called long short-term memory (LSTM). Truncating the gradient where this does not do harm, LSTM can learn to bridge minimal time lags in excess of 1000 discrete-time steps by enforcing constant error flow through constant error carousels within special units. Multiplicative gate units learn to open and close access to the constant error flow. LSTM is local in space and time; its computational complexity per time step and weight is O(1). Our experiments with artificial data involve local, distributed, real-valued, and noisy pattern representations. In comparisons with real-time recurrent learning, back propagation through time, recurrent cascade correlation, Elman nets, and neural sequence chunking, LSTM leads to many more successful runs, and learns much faster. LSTM also solves complex, artificial long-time-lag tasks that have never been solved by previous recurrent network algorithms.

  18. Onboard Short Term Plan Viewer

    NASA Technical Reports Server (NTRS)

    Hall, Tim; LeBlanc, Troy; Ulman, Brian; McDonald, Aaron; Gramm, Paul; Chang, Li-Min; Keerthi, Suman; Kivlovitz, Dov; Hadlock, Jason

    2011-01-01

    Onboard Short Term Plan Viewer (OSTPV) is a computer program for electronic display of mission plans and timelines, both aboard the International Space Station (ISS) and in ISS ground control stations located in several countries. OSTPV was specifically designed both (1) for use within the limited ISS computing environment and (2) to be compatible with computers used in ground control stations. OSTPV supplants a prior system in which, aboard the ISS, timelines were printed on paper and incorporated into files that also contained other paper documents. Hence, the introduction of OSTPV has both reduced the consumption of resources and saved time in updating plans and timelines. OSTPV accepts, as input, the mission timeline output of a legacy, print-oriented, UNIX-based program called "Consolidated Planning System" and converts the timeline information for display in an interactive, dynamic, Windows Web-based graphical user interface that is used by both the ISS crew and ground control teams in real time. OSTPV enables the ISS crew to electronically indicate execution of timeline steps, launch electronic procedures, and efficiently report to ground control teams on the statuses of ISS activities, all by use of laptop computers aboard the ISS.

  19. Benchmarking short sequence mapping tools

    PubMed Central

    2013-01-01

    Background The development of next-generation sequencing instruments has led to the generation of millions of short sequences in a single run. The process of aligning these reads to a reference genome is time consuming and demands the development of fast and accurate alignment tools. However, the current proposed tools make different compromises between the accuracy and the speed of mapping. Moreover, many important aspects are overlooked while comparing the performance of a newly developed tool to the state of the art. Therefore, there is a need for an objective evaluation method that covers all the aspects. In this work, we introduce a benchmarking suite to extensively analyze sequencing tools with respect to various aspects and provide an objective comparison. Results We applied our benchmarking tests on 9 well known mapping tools, namely, Bowtie, Bowtie2, BWA, SOAP2, MAQ, RMAP, GSNAP, Novoalign, and mrsFAST (mrFAST) using synthetic data and real RNA-Seq data. MAQ and RMAP are based on building hash tables for the reads, whereas the remaining tools are based on indexing the reference genome. The benchmarking tests reveal the strengths and weaknesses of each tool. The results show that no single tool outperforms all others in all metrics. However, Bowtie maintained the best throughput for most of the tests while BWA performed better for longer read lengths. The benchmarking tests are not restricted to the mentioned tools and can be further applied to others. Conclusion The mapping process is still a hard problem that is affected by many factors. In this work, we provided a benchmarking suite that reveals and evaluates the different factors affecting the mapping process. Still, there is no tool that outperforms all of the others in all the tests. Therefore, the end user should clearly specify his needs in order to choose the tool that provides the best results. PMID:23758764

  20. Short-lived Supershear Rupture

    NASA Astrophysics Data System (ADS)

    Fukuyama, E.; Xu, S.; Yamashita, F.; Mizoguchi, K.; Takizawa, S.; Kawakata, H.

    2015-12-01

    Fukuyama and Olsen (2002) computed the supershear rupture initiation, propagation and termination process due to a passage of high stress drop area (called asperity) using a boundary integral equation method. They found that supershear rupture continued to propagate after the passage through high stress drop area but it died after a certain propagation distance, which depends on the elastic energy released at the high stress drop area. Here, we could reproduce a similar phenomenon in the laboratory. We conducted large-scale biaxial friction experiments using a pair of meter-scaled metagabbro rock specimens (VP=6.9km/s, VS=3.6km/s) at the National Research institute for Earth Science and Disaster Prevention (NIED). We observed several stick slip rupture events that initiated close to an asperity and immediately became supershear ruptures. But after propagating certain distance they died out and co-existing subshear ruptures became prominent. If we look into details, during the supershear rupture, we could see a sequence of rupture acceleration, its short rest and re-acceleration. This feature reminds us of a sequential breakage of small high stress patches as predicted by Fukuyama and Madariaga (2000). These observations might be interpreted under a concept of energy balance where the energy transmission from strain energy released by the asperity to fracture energy consumed at the crack tip was not instantaneously balanced in space. This could be related to the fact that earthquake rupture velocity is rather smooth reported from the finite fault analysis of large earthquakes with seismic waveforms. References Fukuyama, E. and R. Madariaga (2000) Dynamic propagation and interaction of a rupture front on a planar fault, PAGEOPH, 257, 1959-1979. Fukuyama, E. and K.B. Olsen (2002) A condition for super-shear rupture propagation in a heterogeneous stress field, PAGEOPH, 159, 2047-2056.

  1. Short GRB Prompt and Afterglow Correlations

    NASA Technical Reports Server (NTRS)

    Gehrels, Neil

    2007-01-01

    The Swift data set on short GRBs has now grown large enough to study correlations of key parameters. The goal is to compare long and short bursts to better understand similarities and differences in the burst origins. In this study we consider the both prompt and afterglow fluxes. It is found that the optical, X-ray and gamma-ray emissions are linearly correlated - stronger bursts tend to have brighter afterglows, and bursts with brighter X-ray afterglow tend to have brighter optical afterglow. Both the prompt and afterglow fluxes are, on average, lower for short bursts than for long. Although there are short GRBs with undetected optical emission, there is no evidence for "dark" short bursts with anomalously low opt/X ratios. The weakest short bursts have a low X-ray/gamma-ray ratio.

  2. Short Tandem Repeat DNA Internet Database

    National Institute of Standards and Technology Data Gateway

    SRD 130 Short Tandem Repeat DNA Internet Database (Web, free access)   Short Tandem Repeat DNA Internet Database is intended to benefit research and application of short tandem repeat DNA markers for human identity testing. Facts and sequence information on each STR system, population data, commonly used multiplex STR systems, PCR primers and conditions, and a review of various technologies for analysis of STR alleles have been included.

  3. Short-term intercultural psychotherapy: ethnographic inquiry.

    PubMed

    Seeley, Karen M

    2004-01-01

    This article examines the challenges specific to short-term intercultural treatments and recently developed approaches to intercultural treatments based on notions of cultural knowledge and cultural competence. The article introduces alternative approaches to short-term intercultural treatments based on ethnographic inquiry adapted for clinical practice. Such approaches allow clinicians conducting short-term intercultural treatments to foreground clients' indigenous conceptions of selfhood, mind, relationship, and emotional disturbance, and thus to more fully grasp their internal, interpersonal, and external worlds. This article demonstrates the uses of clinically adapted ethnographic inquiry in three short-term intercultural cases. PMID:14964524

  4. The Short Story as HyperStory.

    ERIC Educational Resources Information Center

    May, Charles E.

    A software application called HyperStory is a reading program for short fiction which has proved to be effective in the classroom. In 3 years of use, over 300 students have tried it out. Part of the reason for its suitability for helping students develop short story reading skills lies in the relationship between the computer technology known as…

  5. Short-Term Intercultural Psychotherapy: Ethnographic Inquiry

    ERIC Educational Resources Information Center

    Seeley, Karen M.

    2004-01-01

    This article examines the challenges specific to short-term intercultural treatments and recently developed approaches to intercultural treatments based on notions of cultural knowledge and cultural competence. The article introduces alternative approaches to short-term intercultural treatments based on ethnographic inquiry adapted for clinical…

  6. Short Form of the Developmental Behaviour Checklist

    ERIC Educational Resources Information Center

    Taffe, John R.; Gray, Kylie M.; Einfeld, Stewart L.; Dekker, Marielle C.; Koot, Hans M.; Emerson, Eric; Koskentausta, Terhi; Tonge, Bruce J.

    2007-01-01

    A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from…

  7. 31 CFR 505.01 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 31 Money and Finance: Treasury 3 2010-07-01 2010-07-01 false Short title. 505.01 Section 505.01 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) OFFICE OF FOREIGN... CERTAIN MERCHANDISE BETWEEN FOREIGN COUNTRIES § 505.01 Short title. The regulations in this part may...

  8. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 18 Conservation of Power and Water Resources 2 2010-04-01 2010-04-01 false Short title. 415.1 Section 415.1 Conservation of Power and Water Resources DELAWARE RIVER BASIN COMMISSION ADMINISTRATIVE MANUAL BASIN REGULATIONS-FLOOD PLAIN REGULATIONS Generally § 415.1 Short title. This part shall be...

  9. 33 CFR 401.1 - Short title.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 3 2010-07-01 2010-07-01 false Short title. 401.1 Section 401.1 Navigation and Navigable Waters SAINT LAWRENCE SEAWAY DEVELOPMENT CORPORATION, DEPARTMENT OF TRANSPORTATION SEAWAY REGULATIONS AND RULES Regulations § 401.1 Short title. These regulations may be cited as...

  10. 18 CFR 415.1 - Short title.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 18 Conservation of Power and Water Resources 2 2011-04-01 2011-04-01 false Short title. 415.1 Section 415.1 Conservation of Power and Water Resources DELAWARE RIVER BASIN COMMISSION ADMINISTRATIVE MANUAL BASIN REGULATIONS-FLOOD PLAIN REGULATIONS Generally § 415.1 Short title. This part shall be...

  11. Effects of a short-term aquatic resistance program on strength and body composition in fit young men.

    PubMed

    Colado, Juan C; Tella, Victor; Triplett, N Travis; González, Luis M

    2009-03-01

    This study was designed to analyze the effects of a short-term periodized aquatic resistance program (PARP) on upper-limb maximum strength, leg muscular power, and body composition (BC) in fit young men. Twenty subjects (21.2 +/- 1.17 years) were randomly assigned to an exercise or control group; 12 subjects completed the study. The aquatic exercise group (AEG; n = 7) participated in an 8-week supervised program of 3 d x wk, and the control group (CG; n = 5) maintained their regular activities. The PARP consisted of a total-body resistance exercise workout using aquatic devices that increased drag force, with a cadence of movement controlled and adjusted individually for each exercise and subject. The volume and intensity of the program were increased progressively. Submaximal tests were carried out to determine the change in upper-limb maximum strength, as well as a squat-jump test to determine the change in leg muscular power. Four skinfold sites, 6 circumference sites, body weight, and stature were used to determine changes in BC. A significant increase in upper-limb maximum strength and leg muscular power was observed for the AEG. A significant increase also was noted in the circumference and muscular area of the arm, and there were significant decreases in pectoral and abdominal skinfolds. Nevertheless, the circumference, muscular area, and local fat of the lower limbs did not change. There were no significant changes in any variables in the CG. These results indicate that the PARP produces significant improvements in muscular strength, power, and fat-free mass and, thus, seems to be a very effective form of resistance exercise.

  12. Transverse-Type Short-Circuited Thermoelements

    NASA Astrophysics Data System (ADS)

    Anatychuk, L. I.; Kobylyansky, R. R.

    2012-06-01

    This work reports on the results of theoretical and experimental research of short-circuited thermoelements (SCTE). Computer simulation was used to obtain the electric potential, current, and temperature distributions in the bulk of thermoelements. Computer optimization of such a thermoelement design was carried out to achieve maximum transverse thermoelectromotive force (thermoEMF) and efficiency. Experimental studies of the short-circuited thermoelements were pursued. Bi-Te alloys were used as the thermoelectric material. It was established that, among the transverse-type thermoelements, double short-circuited thermoelements achieve the highest values of transverse thermoEMF and efficiency.

  13. Short-Distance Structure of Nuclei

    SciTech Connect

    Douglas Higinbotham, Eliazer Piasetzky, Stephen Wood

    2011-06-01

    One of Jefferson Lab's original missions was to further our understanding of the short-distance structure of nuclei. In particular, to understand what happens when two or more nucleons within a nucleus have strongly overlapping wave-functions; a phenomena commonly referred to as short-range correlations. Herein, we review the results of the (e,e'), (e,e'p) and (e,e'pN) reactions that have been used at Jefferson Lab to probe this short-distance structure as well as provide an outlook for future experiments.

  14. Precursors of Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

    Troja, E.; Rosswog, S.; Gehrels, N.

    2010-01-01

    We carried out a systematic search of precursors on the sample of short GRBs observed by Swift. We found that approx. 8-10% of short GRBs display such early episode of emission. One burst (GRB 090510) shows two precursor events, the former approx.13 s and the latter approx. 0.5 s before the GRB. We did not find any substantial difference between the precursor and the main GRB emission, and between short GRBs with and without precursors. We discuss possible mechanisms to reproduce the observed precursor emission within the scenario of compact object mergers. The implications of our results on quantum gravity constraints are also discussed.

  15. Electrochemical microstructuring with short voltage pulses.

    PubMed

    Schuster, Rolf

    2007-01-01

    The application of short (nanosecond) voltage pulses between a tool electrode and a work piece immersed in an electrolyte solution allows the three-dimensional machining of electrochemically active materials with submicrometer resolution. The method is based on the finite charging time constant of the double-layer capacitance, which varies approximately linearly with the local separation between the electrode surfaces. Hence, the polarization of the electrodes during short pulses and subsequent electrochemical reactions are confined to regions where the electrodes are in sufficiently close proximity. This Minireview describes the principles behind electrochemical micro-structuring with short voltage pulses, and its current achievements and limitations. PMID:17111455

  16. A Short Foucault Pendulum for Corridor Display.

    ERIC Educational Resources Information Center

    Leonard, Byron E.

    1981-01-01

    Describes the construction and operation of a short Foucault pendulum, which indicates earth's rotation with less than 2 percent error. The pendulum is suitable for display either in a classroom or hallway. (SK)

  17. Analyzing Short-Term Disability Benefits.

    ERIC Educational Resources Information Center

    Houff, James N.; Wiatrowski, William J.

    1989-01-01

    The Bureau of Labour Statistics has combined data on sick leave and sickness and accident insurance. Results show that short-term disability benefits vary by length of service and between the private and public sectors. (Author)

  18. Genetics Home Reference: short QT syndrome

    MedlinePlus

    ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the KCNH2 , KCNJ2 , and KCNQ1 genes can cause short QT syndrome . These ...

  19. Short winters threaten temperate fish populations

    PubMed Central

    Farmer, Troy M.; Marschall, Elizabeth A.; Dabrowski, Konrad; Ludsin, Stuart A.

    2015-01-01

    Although climate warming is expected to benefit temperate ectotherms by lengthening the summer growing season, declines in reproductive success following short, warm winters may counter such positive effects. Here we present long-term (1973–2010) field patterns for Lake Erie yellow perch, Perca flavescens, which show that failed annual recruitment events followed short, warm winters. Subsequent laboratory experimentation and field investigations revealed how reduced reproductive success following short, warm winters underlie these observed field patterns. Following short winters, females spawn at warmer temperatures and produce smaller eggs that both hatch at lower rates and produce smaller larvae than females exposed to long winters. Our research suggests that continued climate warming can lead to unanticipated, negative effects on temperate fish populations. PMID:26173734

  20. A Reverse-Genetics Mutational Analysis of the Barley HvDWARF Gene Results in Identification of a Series of Alleles and Mutants with Short Stature of Various Degree and Disturbance in BR Biosynthesis Allowing a New Insight into the Process

    PubMed Central

    Gruszka, Damian; Gorniak, Malgorzata; Glodowska, Ewelina; Wierus, Ewa; Oklestkova, Jana; Janeczko, Anna; Maluszynski, Miroslaw; Szarejko, Iwona

    2016-01-01

    Brassinosteroids (BRs) are plant steroid hormones, regulating a broad range of physiological processes. The largest amount of data related with BR biosynthesis has been gathered in Arabidopsis thaliana, however understanding of this process is far less elucidated in monocot crops. Up to now, only four barley genes implicated in BR biosynthesis have been identified. Two of them, HvDWARF and HvBRD, encode BR-6-oxidases catalyzing biosynthesis of castasterone, but their relation is not yet understood. In the present study, the identification of the HvDWARF genomic sequence, its mutational and functional analysis and characterization of new mutants are reported. Various types of mutations located in different positions within functional domains were identified and characterized. Analysis of their impact on phenotype of the mutants was performed. The identified homozygous mutants show reduced height of various degree and disrupted skotomorphogenesis. Mutational analysis of the HvDWARF gene with the “reverse genetics” approach allowed for its detailed functional analysis at the level of protein functional domains. The HvDWARF gene function and mutants’ phenotypes were also validated by measurement of endogenous BR concentration. These results allowed a new insight into the BR biosynthesis in barley. PMID:27110778

  1. Short-term memory across eye blinks.

    PubMed

    Irwin, David E

    2014-01-01

    The effect of eye blinks on short-term memory was examined in two experiments. On each trial, participants viewed an initial display of coloured, oriented lines, then after a retention interval they viewed a test display that was either identical or different by one feature. Participants kept their eyes open throughout the retention interval on some blocks of trials, whereas on others they made a single eye blink. Accuracy was measured as a function of the number of items in the display to determine the capacity of short-term memory on blink and no-blink trials. In separate blocks of trials participants were instructed to remember colour only, orientation only, or both colour and orientation. Eye blinks reduced short-term memory capacity by approximately 0.6-0.8 items for both feature and conjunction stimuli. A third, control, experiment showed that a button press during the retention interval had no effect on short-term memory capacity, indicating that the effect of an eye blink was not due to general motoric dual-task interference. Eye blinks might instead reduce short-term memory capacity by interfering with attention-based rehearsal processes.

  2. Means for limiting and ameliorating electrode shorting

    DOEpatents

    Van Konynenburg, Richard A.; Farmer, Joseph C.

    1999-01-01

    A fuse and filter arrangement for limiting and ameliorating electrode shorting in capacitive deionization water purification systems utilizing carbon aerogel, for example. This arrangement limits and ameliorates the effects of conducting particles or debonded carbon aerogel in shorting the electrodes of a system such as a capacitive deionization water purification system. This is important because of the small interelectrode spacing and the finite possibility of debonding or fragmentation of carbon aerogel in a large system. The fuse and filter arrangement electrically protect the entire system from shutting down if a single pair of electrodes is shorted and mechanically prevents a conducting particle from migrating through the electrode stack, shorting a series of electrode pairs in sequence. It also limits the amount of energy released in a shorting event. The arrangement consists of a set of circuit breakers or fuses with one fuse or breaker in the power line connected to one electrode of each electrode pair and a set of screens of filters in the water flow channels between each set of electrode pairs.

  3. Short Implants: New Horizon in Implant Dentistry

    PubMed Central

    Gulati, Manisha; Garg, Meenu; Pathak, Chetan

    2016-01-01

    The choice of implant length is an essential factor in deciding the survival rates of these implants and the overall success of the prosthesis. Placing an implant in the posterior part of the maxilla and mandible has always been very critical due to poor bone quality and quantity. Long implants can be placed in association with complex surgical procedures such as sinus lift and bone augmentation. These techniques are associated with higher cost, increased treatment time and greater morbidity. Hence, there is need for a less invasive treatment option in areas of poor bone quantity and quality. Data related to survival rates of short implants, their design and prosthetic considerations has been compiled and structured in this manuscript with emphasis on the indications, advantages of short implants and critical biomechanical factors to be taken into consideration when choosing to place them. Studies have shown that comparable success rates can be achieved with short implants as those with long implants by decreasing the lateral forces to the prosthesis, eliminating cantilevers, increasing implant surface area and improving implant to abutment connection. Short implants can be considered as an effective treatment alternative in resorbed ridges. Short implants can be considered as a viable treatment option in atrophic ridge cases in order to avoid complex surgical procedures required to place long implants. With improvement in the implant surface geometry and surface texture, there is an increase in the bone implant contact area which provides a good primary stability during osseo-integration. PMID:27790598

  4. The origin of short-period comets

    SciTech Connect

    Bailey, M.E.; Stagg, C.R. Calgary Univ. )

    1990-07-01

    If the observed number of short-period comets can be accounted for by a spherically symmetric model of the Oort cloud, in conjunction with an inner core of merely moderate central concentration, then the observed correlation between the ecliptic plane and the inclinations of Jupiter-family short-period comets may be seen as partly due to the calculated decrease in capture probability with inclination, and partly to the effects of cometary decay and observational selection. The implied constraint on the inner core becomes even more severe, if a hypothetical comet disk in the Uranus-Neptune zone either makes a significant contribution to the observed short-period comets or if these comets' mean lifetime is greater than 3000 years. 32 refs.

  5. A perspective on short-haul STOL

    NASA Technical Reports Server (NTRS)

    Malthan, L. V.

    1974-01-01

    Discussion of the basic incentives motivating the development of the short-haul STOL air transportation system. The technological impact on the aircraft and its related economics required to achieve short field performance is generally detrimental. Considerations such as wing and empennage sizing, engine thrust sizing and cycle selection, thrust reverser requirements, cruise Mach number effects, noise, and fuel usage impacts are discussed. The direct operating economics are adversely affected, although it is thought that the indirect costs can be correspondingly reduced. A study of the total operating costs of the short-haul system and its related fare structure indicates that a definite potential exists for the evolution of an economically viable system yielding positive returns on investment to the operators. It is concluded that this potential is sufficient to warrant more detailed studies of these economics and the alternative implementation schemes.

  6. Correlation dynamics after short-pulse photoassociation

    SciTech Connect

    Koch, Christiane P.; Kosloff, Ronnie

    2010-06-15

    Two atoms in an ultracold gas are correlated at short interatomic distances due to threshold effects in which the potential energy of their interaction dominates the kinetic energy. The correlations manifest themselves in a distinct nodal structure of the density matrix at short interatomic distances. Pump-probe spectroscopy has recently been suggested [Phys. Rev. Lett. 103, 260401 (2009)] to probe these pair correlations: A suitably chosen, short photoassociation laser pulse depletes the ground-state pair density within the photoassociation window, creating a nonstationary wave packet in the electronic ground state. The dynamics of this nonstationary wave packet is monitored by time-delayed probe and ionization pulses. Here we discuss how the choice of the pulse parameters affects the experimental feasibility of this pump-probe spectroscopy of two-body correlations.

  7. The quiet short-haul research aircraft

    NASA Technical Reports Server (NTRS)

    Cochrane, J. A.

    1983-01-01

    The design concepts, performance capabilities, and projected applications of the Quiet Short-Haul Research Aircraft (QSRA) are discussed. The propulsive lift system of the QSRA provides the lift required for short field operations at low community noise levels. This system consists of four high bipass ratio, geared turbofan engines mounted so that the engine exhaust flows across the upper surface of the wing (upper surface blowing). Large specially shaped flaps behind each engine control the direction of the flow for each phase of flight. A 95 passenger short haul transport based on this technology could operate out of a 2500 foot runway with a combined takeoff and landing 90 EPNdB footprint area of 2.7 sq mi.

  8. Short-term energy outlook: Methodology

    NASA Astrophysics Data System (ADS)

    Cornett, C.; Paxson, D.; Reznek, A. P.; Chu, C.; Sitzer, S.; Gamson, N.; Childress, J. P.; Paul, S.; Weigel, H.; Sutton, S.

    1981-05-01

    Detailed discussions of forecasting methodology and analytical topics concerning short-term energy markets are presented. Major assumptions necessary to make the energy forecasts are also discussed. Supplementary analyses of topics related to short-term energy forecasting are also given. The discussions relate to the forecasts prepared using the short term integrated forecasting system. This set of computer models uses data from various sources to develop energy supply and demand balances. Econmetric models used to predict the demand for petroleum products, natural gas, coal, and electricity are discussed. Price prediction models are also discussed. The role of oil inventories in world oil markets is reviewed. Various relationship between weather patterns and energy consumption are discussed.

  9. Catalysts for synthesizing various short chain hydrocarbons

    DOEpatents

    Colmenares, Carlos

    1991-01-01

    Method and apparatus (10), including novel photocatalysts, are disclosed for the synthesis of various short chain hydrocarbons. Light-transparent SiO.sub.2 aerogels doped with photochemically active uranyl ions (18) are fluidized in a fluidized-bed reactor (12) having a transparent window (16), by hydrogen and CO, C.sub.2 H.sub.4 or C.sub.2 H.sub.6 gas mixtures (20), and exposed to radiation (34) from a light source (32) external to the reactor (12), to produce the short chain hydrocarbons (36).

  10. Undulators for short wavelength FEL amplifiers

    SciTech Connect

    Schlueter, R.

    1994-08-01

    Issues critical to the design of undulators for use in short wavelength FEL amplifiers, such as attainable on-axis field strength, device compactness, field quality, required magnetic gap, and strong focusing schemes, are discussed. The relative strength of various undulator technologies, including pure permanent magnet, hybrid, warm electromagnetic, pulsed, and superconducting electromagnetic devices in both helical and planar configurations are reviewed. Favored design options for proposed short wavelength FELs, such as the Linac Coherent Light Source at SLAC and the DUV Free-Electron Laser at BNL, are presented.

  11. Life prediction of short fiber composites

    NASA Astrophysics Data System (ADS)

    Zago, Alessandro

    A procedure is described for estimating the fatigue lives (i.e. the number of cycles to failure) of parts made of short fiber reinforced thermoplastic matrix composites. First, S-N curves were generated at stress ratios of R = 0 and R = -1 for short glass fiber reinforced Copolyamide coupons with 0° (30% or 50% fiber content by weight), 45° (50% fiber content) and 90° (30% or 50% fiber content) fiber orientations. Second, these S-N curves were compared to data reported in the literature for a wide range of short glass and short carbon fiber reinforced thermoplastics materials. On the basis of these comparison, all available data were "collapsed" on two S-N curves, one for R = 0 and one for R = -l. The fatigue lives of short fiber reinforced thermoplastics were modeled by a Generalized Miner's Rule. Tests were conducted measuring the fatigue lives of 150 by 10 by 2 mm short glass fiber reinforced Copolyamide coupons under different types of cyclic loads. The fatigue lives measured in these tests were compared to those provided by the Generalized Miner's Rule, and good agreements were found between the test and model results. The fatigue lives of two different parts (made of short glass fiber reinforced Copolyamide) were then investigated. The first one was a 150 by 10 by 4 mm coupon with a 2 mm hole at the center. The second one was an automotive gear shift link. The fiber orientations and the stresses inside these parts were calculated, respectively, by the commercial softwares C-Mold and by ABAQUS. The fatigue lives under different cyclic loads were measured; they were also calculated by the Generalized Miner's Rule together with the results of C-Mold and ABAQUS and the S-N data generated in this study. Comparisons between the measured and estimated (by the model) fatigue lives are in reasonable agreement, indicating that the procedure employed is a useful tool for estimating the fatigue lives of parts made of short fiber reinforced thermoplastics.

  12. Women stereotypes in Shi Zhecun's short stories.

    PubMed

    Rosenmeier, Christopher

    2010-01-01

    This article analyses the representation of women in two 1933 short story collections by Shi Zhecun: An Evening of Spring Rain and Exemplary Conduct of Virtuous Women. It discusses how the New Woman image was a site of contestation in Republican China, and argues that Shi Zhecun’s short stories contain four basic stereotypes: the enigmatic woman, the estranged wife, the prostitute, and the inhibited woman. Using these narratives of women and how they were perceived by men, Shi Zhecun deconstructed the New Woman image by subverting the various ways modernity was projected onto women.

  13. Short-Range Structure of Nuclei

    SciTech Connect

    Higinbotham, Douglas W.

    2008-10-13

    The nucleons in a nucleus can form short-range correlated pairs. A recent Jefferson Lab electron scattering experiment, where a proton was knocked-out of the nucleus with high momentum transfer and high missing momentum, has shown that in {sup 12}C the neutron-proton pairs are nearly twenty times as prevalent as proton-proton pairs and, by inference, neutron-neutron pairs. This difference between the types of pairs has been shown to be due to the short-range tensor part of the nucleon-nucleon interaction.

  14. Boosting salt resistance of short antimicrobial peptides.

    PubMed

    Chu, Hung-Lun; Yu, Hui-Yuan; Yip, Bak-Sau; Chih, Ya-Han; Liang, Chong-Wen; Cheng, Hsi-Tsung; Cheng, Jya-Wei

    2013-08-01

    The efficacies of many antimicrobial peptides are greatly reduced under high salt concentrations, therefore limiting their use as pharmaceutical agents. Here, we describe a strategy to boost salt resistance and serum stability of short antimicrobial peptides by adding the nonnatural bulky amino acid β-naphthylalanine to their termini. The activities of the short salt-sensitive tryptophan-rich peptide S1 were diminished at high salt concentrations, whereas the activities of its β-naphthylalanine end-tagged variants were less affected.

  15. Connecting scaling with short-range correlations

    NASA Astrophysics Data System (ADS)

    Berardo, D.; Barbaro, M. B.; Cenni, R.; Donnelly, T. W.; Molinari, A.

    2011-11-01

    We reexamine several issues related to the physics of scaling in electron scattering from nuclei. A basic model is presented in which an assumed form for the momentum distribution having both long- and short-range contributions is incorporated in the single-particle Green’s function. From this one can obtain saturation of nuclear matter for an NN interaction with medium-range attraction and short-range repulsion and obtain the density-density polarization propagator and, hence, the electromagnetic response and scaling function. For the latter, the shape of the scaling function and how it approaches scaling as a function of momentum transfer are both explored.

  16. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

    PubMed

    Petrovski, Slavé; Küry, Sébastien; Myers, Candace T; Anyane-Yeboa, Kwame; Cogné, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L; Wallace, Geoffrey; Rosen, Aaron B I; Schelley, Susan; Enns, Gregory M; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xénia; Schmitt, Sébastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M; Bézieau, Stéphane; Wierenga, Klaas; Bernstein, Jonathan A; Scheffer, Ingrid E; Rosenfeld, Jill A; Mefford, Heather C; Isidor, Bertrand; Goldstein, David B

    2016-05-01

    Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10(-21)), implicating GNB1 as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gβ binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gβγ interaction (resulting in a constitutively active Gβγ) or through the disruption of residues relevant for interaction between Gβγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo GNB1 mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues. PMID:27108799

  17. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

    PubMed

    Stevenson, R E; Häne, B; Arena, J F; May, M; Lawrence, L; Lubs, H A; Schwartz, C E

    1997-06-01

    A syndrome with distinctive facies, poor muscle tone, absent deep tendon reflexes, tapered fingers, excessive fingerprint arches, genu valgum and mild-moderate mental retardation has occurred in four males in two generations of a white family of European ancestry. The facies are characterised by square configuration, tented upper lip, and thickening of the helices, upper eyelids, and alae nasi. At birth and at maturity, growth (head circumference, height, weight) of affected males is comparable to or greater than unaffected male sibs. Moderate impairment of cognitive function was documented (IQ scores between 40-51). Carriers show no heterozygote manifestations. This X linked condition appears to be different from other syndromes with mental retardation, although there are certain similarities with the alpha thalassaemia-mental retardation syndrome (ATR-X). Linkage analysis found tight linkage to DXS1166 and DXS995 in Xq13 and Xq21 respectively.

  18. [Rational method for prostaglandin use in cases with postpartal uterine hypotonia].

    PubMed

    Bozhinova, S; Porozhanova, V; Atanasova, S; Tsvetkov, M; Popovski, K; Penkov, V

    2001-01-01

    The authors aim is to find out the most common dosages, roads of administration and the effect of 15-Methyl PgF2a (Prostin 15 M) during the treatment of postpartal uterine hypotony 1 to 3 amp. Of Prostin 15 M-1 ml. (250 mg Carboprost) were used deeply muscular, intracervical or intramyometrial, by 51 patients with postpartal hypotony. The most common risk factors associated with the development of postpartal haemorrhage are PIH, prolonged labour, the general anaesthesis and higli multiparity. The adequate treatment with Prostin 15 M woned reduse the life threatening complication in the Labour room. The most efficient is the intracervical way of administration, a good effect could be achieved even with 1 amp. Prostin 15 M when it is applied after the conventional methods and manipulations. The lacu of effect grow Prostin 15 M (in 5.88% in this study) shows that there is another pathology responsible for postpartal hemorrhage and life threatening hemorrhage and this usually requires Laparotomy. We offer every Obstetric Clinic to have 3 amp. Prostin 15 M available and these would spare a lot of negative feelings or emotions and it wont supply a better obstetric outcomes.

  19. Two cases of rickets presenting with poor growth, hypotonia, and respiratory problems.

    PubMed

    Wouters, E; Wojciechowski, M; de Vries, E

    2015-06-01

    Rickets is a rare disease in developed countries. In children, it is a disease which affects growing bone. Depending on the severity, it can present with a wide variety of symptoms. Because it is such a rare disease in developed countries, symptoms suggesting rickets are often not easily recognized. This can cause a delay in diagnosing and treating rickets. Often unnecessary and sometimes invasive investigations are performed. First leading clues to rickets on physical examination are poor growth, especially length, thickening of wrists, bow legs, and craniotabes. At further examination, special attention should be paid to osteopenia and cupping and fraying at the metaphyses on X-rays. Laboratory results suggestive for rickets are elevated alkaline phosphatase and disturbances in calcium and phosphate homeostasis. In this report, we present two cases presenting with poor growth, severe pain, and respiratory problems secondary to calcipenic rickets.

  20. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.

    PubMed

    Nakashima, Mitsuko; Kashii, Hirofumi; Murakami, Yoshiko; Kato, Mitsuhiro; Tsurusaki, Yoshinori; Miyake, Noriko; Kubota, Masaya; Kinoshita, Taroh; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-08-01

    Recessive mutations in genes of the glycosylphosphatidylinositol (GPI)-anchor synthesis pathway have been demonstrated as causative of GPI deficiency disorders associated with intellectual disability, seizures, and diverse congenital anomalies. We performed whole exome sequencing in a patient with progressive encephalopathies and multiple dysmorphism with hypophosphatasia and identified novel compound heterozygous mutations, c.250G>T (p. Glu84*) and c.1342C>T (p. Arg488Trp), in PIGT encoding a subunit of the GPI transamidase complex. The surface expression of GPI-anchored proteins (GPI-APs) on patient granulocytes was lower than that of healthy controls. Transfection of the Arg488Trp mutant PIGT construct, but not the Glu84* mutant, into PIGT-deficient cells partially restored the expression of GPI-APs DAF and CD59. These results indicate that PIGT mutations caused neurological impairment and multiple congenital anomalies in this patient.

  1. Short-pulse laser materials processing

    SciTech Connect

    Stuart, B.C.; Perry, M.D.; Myers, B.R.; Banks, P.S.; Honea, E.C.

    1997-06-18

    While there is much that we have learned about materials processing in the ultrashort-pulse regime, there is an enormous amount that we don`t know. How short does the pulse have to be to achieve a particular cut (depth, material, quality)? How deep can you cut? What is the surface roughness? These questions are clearly dependent upon the properties of the material of interest along with the short-pulse interaction physics. From a technology standpoint, we are asked: Can you build a 100 W average power system ? A 1000 W average power system? This proposal seeks to address these questions with a combined experimental and theoretical program of study. Specifically, To develop an empirical database for both metals and dielectrics which can be used to determine the pulse duration and wavelength necessary to achieve a specific machining requirement. To investigate Yb:YAG as a potential laser material for high average power short-pulse systems both directly and in combination with titanium doped sapphire. To develop a conceptual design for a lOOW and eventually 5OOW average power short-pulse system.

  2. Short-Term Play Therapy for Children.

    ERIC Educational Resources Information Center

    Kaduson, Heidi Gerard, Ed.; Schaefer, Charles E., Ed.

    Play therapy offers a powerful means of helping children resolve a wide range of psychological difficulties, and many play approaches are ideally suited to short-term work. This book brings together leading play therapists to share their expertise on facilitating children's healing in a shorter time frame. The book provides knowledge and skills…

  3. Reading Abilities and Strategies: A Short Introduction

    ERIC Educational Resources Information Center

    Liu, Feng

    2010-01-01

    This paper gives a short analysis of reading abilities and reading strategies. Much research has been done to investigate the nature of reading, though it's had to exactly define reading abilities and strategies. Different kinds of readings are discussed in this paper and distinctions are made between first language reading and second or foreign…

  4. Metropolitan French: Familiarization & Short-Term Training.

    ERIC Educational Resources Information Center

    Iszkowski, Marie-Charlotte

    The U.S. Department of State's Foreign Service Institute French Familiarization and Short-Term (FAST) course for personnel working and living in France consists of 10 weeks of French language instruction combined with practical and cultural information. An introductory section outlines FAST course objectives and sample teaching techniques in…

  5. Vocational Coping Training. Participant's Workbook, Short Form.

    ERIC Educational Resources Information Center

    Roessler, Richard T.; Johnson, Virginia A.

    This participant's workbook is part of a training program to teach individuals with physical, intellectual, or emotional disabilities the skills required to cope with common on-the-job situations encountered with one's supervisor and co-workers. The workbook is intended to accompany the short (15-20 hour) version of the program which incorporates…

  6. Textbook Error: Short Circuiting on Electrochemical Cell

    ERIC Educational Resources Information Center

    Bonicamp, Judith M.; Clark, Roy W.

    2007-01-01

    Short circuiting an electrochemical cell is an unreported but persistent error in the electrochemistry textbooks. It is suggested that diagrams depicting a cell delivering usable current to a load be postponed, the theory of open-circuit galvanic cells is explained, the voltages from the tables of standard reduction potentials is calculated and…

  7. Facts on Aging: A Short Quiz

    ERIC Educational Resources Information Center

    Palmore, Erdman

    1977-01-01

    A short, factual, and documented quiz is developed and tested which covers the basic facts and frequent misconceptions about aging. Its uses include stimulating discussion, measuring levels of information and anti-aged bias, identifying the most frequent misconceptions, measuring the effects of courses, and measuring changes in public information…

  8. Collis-Nissen gastroplasty for short oesophagus.

    PubMed

    Mattioli, Sandro; Lugaresi, Marialuisa; Ruffato, Alberto; Daddi, Niccolò; Di Simone, Massimo Pierluigi; Perrone, Ottorino; Brusori, Stefano

    2015-01-01

    The Collis-Nissen procedure is performed for the surgical treatment of 'true short oesophagus'. When this condition is strongly suspected radiologically, the patient is placed in the 45° left lateral position on the operating table with the left chest and arm lifted to perform a thoracostomy in the V-VI space, posterior to the axillary line. The hiatus is opened and the distal oesophagus is widely mobilized. With intraoperative endoscopy, the position of the oesophago-gastric junction in relationship to the hiatus is determined and the measurement of the length of the intra-abdominal oesophagus is performed to decide either to carry out a standard anti-reflux procedure or to lengthen the oesophagus. If the oesophagus is irreversibly short ('true short oesophagus'), the short gastric vessels are divided and the gastric fundus is mobilized. An endostapler is introduced into the left chest. The left thoracoscopic approach is suitable to control effectively the otherwise blind passage of the endostapler into the mediastinum and upper abdomen (if a second optic is not used). The tip of the stapler is clearly visible while 'walking' on the left diaphragm. The Collis gastroplasty is performed over a 46 Maloney bougie. A floppy Nissen fundoplication and the hiatoplasty complete the procedure. PMID:26585969

  9. A Short Form Reading Attitude Survey.

    ERIC Educational Resources Information Center

    Tunnell, Michael O.; And Others

    1988-01-01

    Reports on a study to develop and test a short form reading attitude survey which could be readily used by classroom teachers. Results showed that most students hold favorable attitudes toward reading, and that the survey is reliable, quick, and simple to use. (RAE)

  10. A Short History of Three Chemical Shifts

    ERIC Educational Resources Information Center

    Nagaoka, Shin-ichi

    2007-01-01

    A short history of chemical shifts in nuclear magnetic resonance (NMR), electron spectroscopy for chemical analysis (ESCA) and Mossbauer spectroscopy, which are useful for chemical studies, is described. The term chemical shift is shown to have originated in the mistaken assumption that nuclei of a given element would all undergo resonance at the…

  11. Nonperturbative short-range dynamics in TMDs

    SciTech Connect

    Weiss, Christian

    2013-05-01

    This presentation covers: deep inelastic processes and transverse momentum distributions; chiral symmetry breaking, including the physical picture, the dynamical model, and parton distributions; partonic structures, including transverse momentum distributions, coordinate space correlator, and short range correlations; and measurements of semi-inclusive deep inelastic scattering, correlations, and multi-parton processes in pp interactions.

  12. Feminist Short Fiction: New Forms and Styles.

    ERIC Educational Resources Information Center

    Dean, Nancy

    This paper examines the stylistic changes that have occurred since 1850 in short fiction written by women. A shift is noted from the sentimental, romantic, "pretty" writing of the past to today's more realistic writing, with its characteristically vivid imagery. Discussion defines the term "feminist fiction" and shows how today's women writers are…

  13. Blacks in Pop Music: A Short Story.

    ERIC Educational Resources Information Center

    Rickelman, Melinda

    1991-01-01

    A short history of black pop music includes artists who have changed pop music or culture and highlights from the 1920s into the 1980s, from Fats Waller to Michael Jackson. In black pop music, there is a direct line of influence from the sharecropper to the current Top 40. (SLD)

  14. T-expansion - a short review

    SciTech Connect

    Karliner, M.

    1985-09-01

    The t-expansion is a nonperturbative calculational tool recently developed for Hamiltonian systems. A short review of the method is given. It is followed by a summary of applications to two dimensional spin systems and to four dimensional non-abelian lattice gauge theories. 5 refs., 3 figs.

  15. Collis-Nissen gastroplasty for short oesophagus.

    PubMed

    Mattioli, Sandro; Lugaresi, Marialuisa; Ruffato, Alberto; Daddi, Niccolò; Di Simone, Massimo Pierluigi; Perrone, Ottorino; Brusori, Stefano

    2015-01-01

    The Collis-Nissen procedure is performed for the surgical treatment of 'true short oesophagus'. When this condition is strongly suspected radiologically, the patient is placed in the 45° left lateral position on the operating table with the left chest and arm lifted to perform a thoracostomy in the V-VI space, posterior to the axillary line. The hiatus is opened and the distal oesophagus is widely mobilized. With intraoperative endoscopy, the position of the oesophago-gastric junction in relationship to the hiatus is determined and the measurement of the length of the intra-abdominal oesophagus is performed to decide either to carry out a standard anti-reflux procedure or to lengthen the oesophagus. If the oesophagus is irreversibly short ('true short oesophagus'), the short gastric vessels are divided and the gastric fundus is mobilized. An endostapler is introduced into the left chest. The left thoracoscopic approach is suitable to control effectively the otherwise blind passage of the endostapler into the mediastinum and upper abdomen (if a second optic is not used). The tip of the stapler is clearly visible while 'walking' on the left diaphragm. The Collis gastroplasty is performed over a 46 Maloney bougie. A floppy Nissen fundoplication and the hiatoplasty complete the procedure.

  16. Electricity and short wavelength radiation generator

    DOEpatents

    George, E.V.

    1985-08-26

    Methods and associated apparati for use of collisions of high energy atoms and ions of He, Ne, or Ar with themselves or with high energy neutrons to produce short wavelength radiation (lambda approx. = 840-1300 A) that may be utilized to produce cathode-anode currents or photovoltaic currents.

  17. A hybrid short read mapping accelerator

    PubMed Central

    2013-01-01

    Background The rapid growth of short read datasets poses a new challenge to the short read mapping problem in terms of sensitivity and execution speed. Existing methods often use a restrictive error model for computing the alignments to improve speed, whereas more flexible error models are generally too slow for large-scale applications. A number of short read mapping software tools have been proposed. However, designs based on hardware are relatively rare. Field programmable gate arrays (FPGAs) have been successfully used in a number of specific application areas, such as the DSP and communications domains due to their outstanding parallel data processing capabilities, making them a competitive platform to solve problems that are “inherently parallel”. Results We present a hybrid system for short read mapping utilizing both FPGA-based hardware and CPU-based software. The computation intensive alignment and the seed generation operations are mapped onto an FPGA. We present a computationally efficient, parallel block-wise alignment structure (Align Core) to approximate the conventional dynamic programming algorithm. The performance is compared to the multi-threaded CPU-based GASSST and BWA software implementations. For single-end alignment, our hybrid system achieves faster processing speed than GASSST (with a similar sensitivity) and BWA (with a higher sensitivity); for pair-end alignment, our design achieves a slightly worse sensitivity than that of BWA but has a higher processing speed. Conclusions This paper shows that our hybrid system can effectively accelerate the mapping of short reads to a reference genome based on the seed-and-extend approach. The performance comparison to the GASSST and BWA software implementations under different conditions shows that our hybrid design achieves a high degree of sensitivity and requires less overall execution time with only modest FPGA resource utilization. Our hybrid system design also shows that the performance

  18. HETEROGENEITY IN SHORT GAMMA-RAY BURSTS

    SciTech Connect

    Norris, Jay P.; Gehrels, Neil

    2011-07-01

    We analyze the Swift/BAT sample of short gamma-ray bursts, using an objective Bayesian Block procedure to extract temporal descriptors of the bursts' initial pulse complexes (IPCs). The sample is comprised of 12 and 41 bursts with and without extended emission (EE) components, respectively. IPCs of non-EE bursts are dominated by single pulse structures, while EE bursts tend to have two or more pulse structures. The medians of characteristic timescales-durations, pulse structure widths, and peak intervals-for EE bursts are factors of {approx}2-3 longer than for non-EE bursts. A trend previously reported by Hakkila and colleagues unifying long and short bursts-the anti-correlation of pulse intensity and width-continues in the two short burst groups, with non-EE bursts extending to more intense, narrower pulses. In addition, we find that preceding and succeeding pulse intensities are anti-correlated with pulse interval. We also examine the short burst X-ray afterglows as observed by the Swift/X-Ray Telescope (XRT). The median flux of the initial XRT detections for EE bursts ({approx}6x10{sup -10} erg cm{sup -2} s{sup -1}) is {approx}>20x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts ({approx}60,000 s) is {approx}30x longer than for non-EE bursts. The tendency for EE bursts toward longer prompt-emission timescales and higher initial X-ray afterglow fluxes implies larger energy injections powering the afterglows. The longer-lasting X-ray afterglows of EE bursts may suggest that a significant fraction explode into denser environments than non-EE bursts, or that the sometimes-dominant EE component efficiently powers the afterglow. Combined, these results favor different progenitors for EE and non-EE short bursts.

  19. Heterogeneity in Short Gamma-Ray Bursts

    NASA Technical Reports Server (NTRS)

    Norris, Jay P.; Gehrels Neil; Scargle, Jeffrey D.

    2011-01-01

    We analyze the Swift/BAT sample of short gamma-ray bursts, using an objective Bayesian Block procedure to extract temporal descriptors of the bursts' initial pulse complexes (IPCs). The sample comprises 12 and 41 bursts with and without extended emission (EE) components, respectively. IPCs of non-EE bursts are dominated by single pulse structures, while EE bursts tend to have two or more pulse structures. The medians of characteristic timescales - durations, pulse structure widths, and peak intervals - for EE bursts are factors of approx 2-3 longer than for non-EE bursts. A trend previously reported by Hakkila and colleagues unifying long and short bursts - the anti-correlation of pulse intensity and width - continues in the two short burst groups, with non-EE bursts extending to more intense, narrower pulses. In addition we find that preceding and succeeding pulse intensities are anti-correlated with pulse interval. We also examine the short burst X-ray afterglows as observed by the Swift/XRT. The median flux of the initial XRT detections for EE bursts (approx 6 X 10(exp -10) erg / sq cm/ s) is approx > 20 x brighter than for non-EE bursts, and the median X-ray afterglow duration for EE bursts (approx 60,000 s) is approx 30 x longer than for non-EE bursts. The tendency for EE bursts toward longer prompt-emission timescales and higher initial X-ray afterglow fluxes implies larger energy injections powering the afterglows. The longer-lasting X-ray afterglows of EE bursts may suggest that a significant fraction explode into more dense environments than non-EE bursts, or that the sometimes-dominant EE component efficiently p()wers the afterglow. Combined, these results favor different progenitors for EE and non-EE short bursts.

  20. Short day lengths delay reproductive aging.

    PubMed

    Place, Ned J; Tuthill, Christiana R; Schoomer, Elanor E; Tramontin, Anthony D; Zucker, Irving

    2004-09-01

    Caloric restriction and hormone treatment delay reproductive senescence in female mammals, but a natural model of decelerated reproductive aging does not presently exist. In addition to describing such a model, this study shows that an abiotic signal (photoperiod) can induce physiological changes that slow senescence. Relative to animals born in April, rodents born in September delay their first reproductive effort by up to 7 mo, at which age reduced fertility is expected. We tested the hypothesis that the shorter day lengths experienced by late-born Siberian hamsters ameliorate the reproductive decline associated with advancing age. Short-day females (10L:14D) achieved puberty at a much later age than long-day animals (14L:10D) and had twice as many ovarian primordial follicles. At 10 mo of age, 86% of females previously maintained in short day lengths produced litters, compared with 58% of their long day counterparts. Changes in pineal gland production of melatonin appear to mediate the effects of day length on reproductive aging; only 30% of pinealectomized females housed in short days produced litters. Exposure to short days induces substantial decreases in voluntary food intake and body mass, reduced ovarian estradiol secretion, and enhanced production of melatonin. One or more of these changes may account for the protective effect of short day lengths on female reproduction. In delaying reproductive senescence, the decrease in day length after the summer solstice is of presumed adaptive significance for offspring born late in the breeding season that first breed at an advanced chronological age.

  1. MMPI-2 short form proposal: CAUTION.

    PubMed

    Gass, Carlton S; Gonzalez, Camille

    2003-07-01

    The Minnesota Multiphasic Personality Inventory-2 (MMPI-2) is widely used in neuropsychology, though its length (567 items) is sometimes prohibitive. This study investigated some psychometric characteristics of the 180-item version of the MMPI-2 () in order to delineate its strengths, limitations, and appropriate scope of clinical application. Limited reliability and poor predictive accuracy were recently reported for many of the MMPI-2 short-form scales in a study that used 205 brain-injured patients. In the present investigation, we used a psychiatric sample (N=186) with normal neurological findings to examine short-form accuracy in predicting basic scale scores, profile code types, identifying high-point scales, and classifying scores as pathological (T>/=65) or normal-range. The results suggest that, even as applied to neurologically normal individuals, the proposed short form of the MMPI-2 is unreliable for predicting clinical code types, identifying the high-point scale, or predicting the scores on most of the basic scales. In contrast, this short form can be used to predict whether the full-scale scores fall within the pathological range (T>/=65). These findings suggest that clinicians might be able to salvage a small amount of information from the shortened (180-item) version of the MMPI-2 when MMPI-2 protocols are incomplete. However, clinicians should not use a standard interpretive approach with this test, and routine clinical application is unwarranted. Future evaluations of short-form validity should provide a more detailed examination of individual protocols, including an analysis of the frequency of accurate prediction of full-form scores.

  2. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.

    PubMed

    Morandi, Anita; Bonnefond, Amélie; Lobbens, Stéphane; Carotenuto, Marco; Del Giudice, Emanuele Miraglia; Froguel, Philippe; Maffeis, Claudio

    2015-11-01

    The Prader-Willi syndrome (PWS) is caused by lack of expression of paternal allele of the 15q11.2-q13 region, due to deletions at paternal 15q11.2-q13 (<70%), maternal uniparental disomy of chromosome 15 (mat-UPD 15) (30%) or imprinting defects (1%). Hyperphagia, intellectual disabilities/behavioral disorders, neonatal hypotonia, and hypogonadism are cardinal features for PWS. Methylation sensitive PCR (MS-PCR) of the SNRPN locus, which assesses the presence of both the unmethylated (paternal) and the methylated (maternal) allele of 15q11.2-q13, is considered a sensitive reference technique for PWS diagnosis regardless of genetic subtype. We describe a 17-year-old girl with severe obesity, short stature, and intellectual disability, without hypogonadism and history of neonatal hypotonia, who was suspected to have an incomplete PWS. The MS-PCR showed a normal pattern with similar maternal and paternal electrophoretic bands. Afterwards, a SNP array showed the presence of iso-UPD 15, that is, UPD15 with two copies of the same chromosome 15, in about 50% of cells, suggesting a diagnosis of partial PWS due to mosaic maternal iso-UPD15 arisen as rescue of a post-fertilization error. A quantitative methylation analysis confirmed the presence of mosaic UPD15 in about 50% of cells. We propose that complete clinical criteria for PWS and MS-PCR should not be considered sensitive in suspecting and diagnosing partial PWS due to mosaic UPD15. In contrast, clinical suspicion based on less restrictive criteria followed by SNP array is a more powerful approach to diagnose atypical PWS due to UPD15 mosaicism. PMID:26109092

  3. Cohen syndrome in the Ohio Amish.

    PubMed

    Falk, Marni J; Feiler, Heidi S; Neilson, Derek E; Maxwell, Kathleen; Lee, James V; Segall, Samantha K; Robin, Nathaniel H; Wilhelmsen, Kirk C; Träskelin, Ann-Liz; Kolehmainen, Juha; Lehesjoki, Anna-Elina; Wiznitzer, Max; Warman, Matthew L

    2004-07-01

    We describe eight members from two large Amish kindreds who share a phenotype characterized by early-onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, common facial appearance, and friendly disposition. Several of the children had intermittent granulocytopenia. The phenotypic occurrence in three siblings coupled with the increased coefficient of inbreeding in the Amish suggested that this disorder is autosomal recessive and due to a single founder allele. Despite similarity to the clinical features of Cohen syndrome, experienced dysmorphologists attending the 23rd David W. Smith Workshop suggested the facial gestalt of the Amish children was inconsistent with this diagnosis. We mapped the locus responsible for these individuals' phenotype to chromosome 8q22-q23, which contains the recently discovered Cohen syndrome gene, COH1. Complete sequencing of the COH1 gene identified a likely disease-causing frameshift mutation and a missense mutation in the Amish patients. A comparison of features among different Cohen syndrome populations with shared linkage to the COH1 locus or known COH1 gene mutations may allow for the determination of improved clinical criteria on which to suspect the diagnosis of Cohen syndrome. We conclude that facial gestalt seems to be an unreliable indicator of Cohen syndrome between ethnic populations, although it is quite consistent among affected individuals within a particular ethnic group. Other features common to almost all individuals with proven COH1 mutations, such as retinal dystrophy, myopia, microcephaly, mental retardation, global developmental delay, hypotonia, and joint hyperextensibility appear to be better clinical indicators of this disorder. PMID:15211651

  4. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 19 Customs Duties 3 2013-04-01 2013-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  5. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 19 Customs Duties 3 2014-04-01 2014-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  6. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 19 Customs Duties 3 2012-04-01 2012-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  7. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Short supply allowances. 357.102 Section 357.102 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will authorize a short supply allowance if: (1)...

  8. 19 CFR 357.102 - Short supply allowances.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short supply allowances. 357.102 Section 357.102 Customs Duties INTERNATIONAL TRADE ADMINISTRATION, DEPARTMENT OF COMMERCE SHORT SUPPLY PROCEDURES § 357.102 Short supply allowances. (a) The Secretary will authorize a short supply allowance if: (1)...

  9. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  10. 19 CFR 207.27 - Short life cycle products.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 19 Customs Duties 3 2011-04-01 2011-04-01 false Short life cycle products. 207.27 Section 207.27... SUBSIDIZED EXPORTS TO THE UNITED STATES Final Determinations, Short Life Cycle Products § 207.27 Short life... short life cycle merchandise which has been the subject of two or more affirmative...

  11. Perceptual interference decays over short unfilled intervals.

    PubMed

    Schulkind, M D

    2000-09-01

    The perceptual interference effect refers to the fact that object identification is directly related to the amount of information available at initial exposure. The present article investigated whether perceptual interference would dissipate when a short, unfilled interval was introduced between exposures to a degraded object. Across three experiments using both musical and pictorial stimuli, identification performance increased directly with the length of the unfilled interval. Consequently, significant perceptual interference was obtained only when the interval between exposures was relatively short (< 500 msec for melodies; < 300 msec for pictures). These results are consistent with explanations that attribute perceptual interference to increased perceptual noise created by exposures to highly degraded objects. The data also suggest that perceptual interference is mediated by systems that are not consciously controlled by the subject and that perceptual interference in the visual domain decays more rapidly than perceptual interference in the auditory domain. PMID:11105520

  12. Skylab short-lived event alert program

    NASA Technical Reports Server (NTRS)

    Citron, R. A.

    1974-01-01

    During the three manned Skylab missions, the Center for Short-Lived Phenomena (CSLP) reported a total of 39 significant events to the Johnson Space Center (JSC) as part of the Skylab Short-Lived Event Alert Program. The telegraphed daily status reports included the names and locations of the events, the track number and revolution number during which the event could be observed, the time (GMT) to within plus or minus 2 sec when Skylab was closest to the event area, and the light condition (daylight or darkness) at that time and place. The messages sent to JSC during the Skylab 4 mission also included information pertaining to ground-truth studies and observations being conducted on the events. Photographic priorities were assigned for each event.

  13. Electron Transport in Short Peptide Single Molecules

    NASA Astrophysics Data System (ADS)

    Cui, Jing; Brisendine, Joseph; Ng, Fay; Nuckolls, Colin; Koder, Ronald; Venkarataman, Latha

    We present a study of the electron transport through a series of short peptides using scanning tunneling microscope-based break junction method. Our work is motivated by the need to gain a better understanding of how various levels of protein structure contribute to the remarkable capacity of proteins to transport charge in biophysical processes such as respiration and photosynthesis. We focus here on short mono, di and tri-peptides, and probe their conductance when bound to gold electrodes in a native buffer environment. We first show that these peptides can bind to gold through amine, carboxyl, thiol and methyl-sulfide termini. We then focus on two systems (glycine and alanine) and show that their conductance decays faster than alkanes terminated by the same linkers. Importantly, our results show that the peptide bond is less conductive than a sigma carbon-carbon bond. This work was supported in part by NSF-DMR 1507440.

  14. Quantum chaotic resonances from short periodic orbits.

    PubMed

    Novaes, M; Pedrosa, J M; Wisniacki, D; Carlo, G G; Keating, J P

    2009-09-01

    We present an approach to calculating the quantum resonances and resonance wave functions of chaotic scattering systems, based on the construction of states localized on classical periodic orbits and adapted to the dynamics. Typically only a few such states are necessary for constructing a resonance. Using only short orbits (with periods up to the Ehrenfest time), we obtain approximations to the longest-living states, avoiding computation of the background of short living states. This makes our approach considerably more efficient than previous ones. The number of long-lived states produced within our formulation is in agreement with the fractal Weyl law conjectured recently in this setting. We confirm the accuracy of the approximations using the open quantum baker map as an example.

  15. Short time cycles of purely quantum refrigerators

    NASA Astrophysics Data System (ADS)

    Feldmann, Tova; Kosloff, Ronnie

    2012-05-01

    Four stroke Otto refrigerator cycles with no classical analog are studied. Extremely short cycle times with respect to the internal timescale of the working medium characterize these refrigerators. Therefore, these cycles are termed sudden. The sudden cycles are characterized by the stable limit cycle, which is the invariant of the global cycle propagator. During their operation the states of the working medium possess significant coherence which is not erased in the equilibration segments due to the very short time allocated. This characteristic is reflected in a difference between the energy entropy and the Von Neumann entropy of the working medium. A classification scheme for sudden refrigerators is developed allowing simple approximations for the cooling power and coefficient of performance.

  16. Ultimately short ballistic vertical graphene Josephson junctions

    PubMed Central

    Lee, Gil-Ho; Kim, Sol; Jhi, Seung-Hoon; Lee, Hu-Jong

    2015-01-01

    Much efforts have been made for the realization of hybrid Josephson junctions incorporating various materials for the fundamental studies of exotic physical phenomena as well as the applications to superconducting quantum devices. Nonetheless, the efforts have been hindered by the diffusive nature of the conducting channels and interfaces. To overcome the obstacles, we vertically sandwiched a cleaved graphene monoatomic layer as the normal-conducting spacer between superconducting electrodes. The atomically thin single-crystalline graphene layer serves as an ultimately short conducting channel, with highly transparent interfaces with superconductors. In particular, we show the strong Josephson coupling reaching the theoretical limit, the convex-shaped temperature dependence of the Josephson critical current and the exceptionally skewed phase dependence of the Josephson current; all demonstrate the bona fide short and ballistic Josephson nature. This vertical stacking scheme for extremely thin transparent spacers would open a new pathway for exploring the exotic coherence phenomena occurring on an atomic scale. PMID:25635386

  17. Short range atomic migration in amorphous silicon

    NASA Astrophysics Data System (ADS)

    Strauß, F.; Jerliu, B.; Geue, T.; Stahn, J.; Schmidt, H.

    2016-05-01

    Experiments on self-diffusion in amorphous silicon between 400 and 500 °C are presented, which were carried out by neutron reflectometry in combination with 29Si/natSi isotope multilayers. Short range diffusion is detected on a length scale of about 2 nm, while long range diffusion is absent. Diffusivities are in the order of 10-19-10-20 m2/s and decrease with increasing annealing time, reaching an undetectable low value for long annealing times. This behavior is strongly correlated to structural relaxation and can be explained as a result of point defect annihilation. Diffusivities for short annealing times of 60 s follow the Arrhenius law with an activation enthalpy of (0.74 ± 0.21) eV, which is interpreted as the activation enthalpy of Si migration.

  18. Short-time dynamics of percolation observables

    SciTech Connect

    Wanzeller, Wanderson G.; Mendes, Tereza; Krein, Gastao

    2006-11-15

    We consider the critical short-time evolution of magnetic and droplet-percolation order parameters for the Ising model in two and three dimensions, through Monte Carlo simulations with the (local) heat-bath method. We find qualitatively different dynamic behaviors for the two types of order parameters. More precisely, we find that the percolation order parameter does not have a power-law behavior as encountered for the magnetization, but develops a scale (related to the relaxation time to equilibrium) in the Monte Carlo time. We argue that this difference is due to the difficulty in forming large clusters at the early stages of the evolution. Our results show that, although the descriptions in terms of magnetic and percolation order parameters may be equivalent in the equilibrium regime, greater care must be taken to interpret percolation observables at short times. In particular, this concerns the attempts to describe the dynamics of the deconfinement phase transition in QCD using cluster observables.

  19. Short pulse free electron laser amplifier

    DOEpatents

    Schlitt, Leland G.; Szoke, Abraham

    1985-01-01

    Method and apparatus for amplification of a laser pulse in a free electron laser amplifier where the laser pulse duration may be a small fraction of the electron beam pulse duration used for amplification. An electron beam pulse is passed through a first wiggler magnet and a short laser pulse to be amplified is passed through the same wiggler so that only the energy of the last fraction, f, (f<1) of the electron beam pulse is consumed in amplifying the laser pulse. After suitable delay of the electron beam, the process is repeated in a second wiggler magnet, a third, . . . , where substantially the same fraction f of the remainder of the electron beam pulse is consumed in amplification of the given short laser pulse in each wiggler magnet region until the useful electron beam energy is substantially completely consumed by amplification of the laser pulse.

  20. Short-Range Nucleon-Nucleon Correlations

    SciTech Connect

    Douglas Higinbotham

    2011-10-01

    Valence-shell nucleon knock-out experiments, such as 12C(e,e'p)11B, measure less strength then is predicted by independent particle shell model calculations. The theoretical solution to this problem is to include the correlations between the nucleons in the nucleus in the calculations. Motivated by these results, many electron scattering experiments have tried to directly observe these correlations in order to gain new insight into the short-range part of the nucleon-nucleon potential. Unfortunately, many competing mechanisms can cause the same observable final-state as an initial-state correlation, making truly isolating the signal extremely challenging. This paper reviews the recent experimental evidence for short-range correlations, as well as explores the possibility that such correlations are responsible for the EMC effect in the 0.3 < xB < 0.7 deep inelastic scattering ratios.

  1. Ultimately short ballistic vertical graphene Josephson junctions.

    PubMed

    Lee, Gil-Ho; Kim, Sol; Jhi, Seung-Hoon; Lee, Hu-Jong

    2015-01-01

    Much efforts have been made for the realization of hybrid Josephson junctions incorporating various materials for the fundamental studies of exotic physical phenomena as well as the applications to superconducting quantum devices. Nonetheless, the efforts have been hindered by the diffusive nature of the conducting channels and interfaces. To overcome the obstacles, we vertically sandwiched a cleaved graphene monoatomic layer as the normal-conducting spacer between superconducting electrodes. The atomically thin single-crystalline graphene layer serves as an ultimately short conducting channel, with highly transparent interfaces with superconductors. In particular, we show the strong Josephson coupling reaching the theoretical limit, the convex-shaped temperature dependence of the Josephson critical current and the exceptionally skewed phase dependence of the Josephson current; all demonstrate the bona fide short and ballistic Josephson nature. This vertical stacking scheme for extremely thin transparent spacers would open a new pathway for exploring the exotic coherence phenomena occurring on an atomic scale. PMID:25635386

  2. The economics of short-term leasing.

    PubMed

    Flath, D

    1980-04-01

    Short-term leasing is an everyday occurrence. Tax savings cannot account for the ubiquity of leasing by temporary users. Monopoly explanations are inconsistent with concurrent leasing and selling markets for perfect substitutes. Leasing economizes upon the costs of detecting, assuring, and maintaining quality, costs of search, and costs of risk-bearing. This view is based on standard economic reasoning and has numerous specific implications.

  3. Short wavelength striations on expanding plasma clouds

    SciTech Connect

    Winske, D.; Gary, S.P.

    1989-01-01

    The growth and evolution of short wavelength (

  4. Unlocking Short Read Sequencing for Metagenomics

    DOE PAGES

    Rodrigue, Sébastien; Materna, Arne C.; Timberlake, Sonia C.; Blackburn, Matthew C.; Malmstrom, Rex R.; Alm, Eric J.; Chisholm, Sallie W.; Gilbert, Jack Anthony

    2010-07-28

    We describe an experimental and computational pipeline yielding millions of reads that can exceed 200 bp with quality scores approaching that of traditional Sanger sequencing. The method combines an automatable gel-less library construction step with paired-end sequencing on a short-read instrument. With appropriately sized library inserts, mate-pair sequences can overlap, and we describe the SHERA software package that joins them to form a longer composite read.

  5. Self-Organized Short-Term Memories

    NASA Astrophysics Data System (ADS)

    Coppersmith, S. N.; Jones, T. C.; Kadanoff, L. P.; Levine, A.; McCarten, J. P.; Nagel, S. R.; Venkataramani, S. C.; Wu, Xinlei

    1997-05-01

    We report short-term memory formation in a nonlinear dynamical system with many degrees of freedom. The system ``remembers'' a sequence of impulses for a transient period, but it coarsens and eventually ``forgets'' nearly all of them. The memory duration increases as the number of degrees of freedom in the system increases. We demonstrate the existence of these transient memories in a laboratory experiment.

  6. Rapid nuclear import of short nucleic acids.

    PubMed

    Kitagawa, Mai; Okamoto, Akimitsu

    2016-10-01

    Exogenous short-chain nucleic acids undergo rapid import into the nucleus. Fluorescence-labeled dT1-13 DNA microinjected into the cytoplasm domain of a HeLa cell was rapidly imported into the nucleus domain within 1min. This is much more rapid than what has been observed for intracellular diffusion of small molecules. In contrast, import of longer nucleic acids with a length of over 30nt into the nucleus was suppressed.

  7. Long life of a short film.

    PubMed

    Wadia, R V

    2000-01-01

    What follows is an account of my personal experiences as an independent Indian film director who had the fortune to make the country's first openly gay film, the short BOMgAY That said, I would like this essay to be accepted as, rather than a critical appraisal of Indian cinema, a humbly autobiographical account of one individual caught in the hectic throes of political (and cinematic) visibility. PMID:11133141

  8. Deformable mirror for short wavelength applications

    DOEpatents

    Chapman, Henry N.; Sweeney, Donald W.

    1999-01-01

    A deformable mirror compatible with short wavelength (extreme ultraviolet) radiation that can be precisely controlled to nanometer and subnanometer accuracy is described. Actuators are coupled between a reaction plate and a face plate which has a reflective coating. A control system adjusts the voltage supplied to the actuators; by coordinating the voltages supplied to the actuators, the reflective surface of the mirror can be deformed to correct for dimensional errors in the mirror or to produce a desired contour.

  9. [Research progression of short chain fatty acid].

    PubMed

    Wan, Xiao; Wang, Xinying; Li, Ning

    2015-09-01

    With the development of intestinal flora, short chain fatty acid(SCFA), produced by the intestinal microbiota, has been found to be important for the host. It also plays an important role in the part of the occurrence and development of some diseases. The relationship between SCFA produced by intestinal microbiota and the host body has become the research focus in recent years. The physiological function and clinical application of SCFA were reviewed in this article.

  10. Alchemy with short-lived radionuclides

    SciTech Connect

    Rubio, F.F.; Finn, R.D.; Gilson, A.J.

    1981-04-01

    A variety of short-lived radionuclides are produced and subsequently incorporated into radiopharmaceutical compounds in the radionuclide production program currently being conducted at the Cyclotron Facility of Mount Sinai Medical Center. The recovery of high specific activity oxygen-15 labelled water prepared by means of an inexpensive system operating in conjunction with an on-line radiogas target routinely utilized for oxygen-15 labelled carbon dioxide studies is currently receiving particular attention.

  11. Source of coherent short wavelength radiation

    DOEpatents

    Villa, Francesco

    1990-01-01

    An apparatus for producing coherent radiation ranging from X-rays to the far ultraviolet (i.e., 1 Kev to 10 eV) utilizing the Compton scattering effect. A photon beam from a laser is scattered on a high energy electron bunch from a pulse power linac. The short wavelength radiation produced by such scattering has sufficient intensity and spatial coherence for use in high resolution applications such as microscopy.

  12. Long life of a short film.

    PubMed

    Wadia, R V

    2000-01-01

    What follows is an account of my personal experiences as an independent Indian film director who had the fortune to make the country's first openly gay film, the short BOMgAY That said, I would like this essay to be accepted as, rather than a critical appraisal of Indian cinema, a humbly autobiographical account of one individual caught in the hectic throes of political (and cinematic) visibility.

  13. Rapid nuclear import of short nucleic acids.

    PubMed

    Kitagawa, Mai; Okamoto, Akimitsu

    2016-10-01

    Exogenous short-chain nucleic acids undergo rapid import into the nucleus. Fluorescence-labeled dT1-13 DNA microinjected into the cytoplasm domain of a HeLa cell was rapidly imported into the nucleus domain within 1min. This is much more rapid than what has been observed for intracellular diffusion of small molecules. In contrast, import of longer nucleic acids with a length of over 30nt into the nucleus was suppressed. PMID:27597250

  14. Ultra short pulse reconstruction software: GROG

    NASA Astrophysics Data System (ADS)

    Galletti, M.; Galimberti, M.; Giulietti, D.; Curcio, A.

    2016-07-01

    A new algorithmic method based on the 1D Conjugate Gradient Minimization Method, is presented. The purpose is, analyzing experimental FROG/GRENOUILLE traces, to accurately retrieve intensity and phase both in temporal and spectral domain so as to completely characterize an Ultra Short High Power laser pulse. This algorithm shows important features in the reconstruction of many different pulse classes. The employment of this algorithm also permits the inclusion of material response function present in the FROG/GRENOUILLE set-up.

  15. [Personal contextual factors (short version), part II].

    PubMed

    Viol, M; Grotkamp, S; Seger, W

    2007-01-01

    In this journal a group of medical experts recently compiled a proposal for a systemic classification of personal contextual factors into domains, categories and items with respect to the ethical guidelines of the ICF (part I). In a second step the main issues have been transferred into the preliminary draft for a short version which is presented in this paper to give support for practical daily use in health insurance matters (part II). PMID:17347930

  16. Relationship between short- and long-term memory and short- and long-term extinction.

    PubMed

    Cammarota, Martín; Bevilaqua, Lia R M; Rossato, Janine I; Ramirez, Maria; Medina, Jorge H; Izquierdo, Iván

    2005-07-01

    Both the acquisition and the extinction of memories leave short- and long-term mnemonic traces. Here, we show that in male Wistar rats, the short-term memory for a step-down inhibitory avoidance task (IA) is resistant to extinction, and that its expression does not influence retrieval or extinction of long-term memory. It has been known for some time that short- and long-term inhibitory avoidance memory involve separate and parallel processes. Here we show that, instead, short-term extinction of IA long-term memory is the first step towards its long-term extinction, and that this link requires functional NMDA receptors and protein synthesis in the CA1 region of the dorsal hippocampus at the time of the first CS-no US presentation.

  17. Ultra-short silicon MMI duplexer

    NASA Astrophysics Data System (ADS)

    Yi, Huaxiang; Huang, Yawen; Wang, Xingjun; Zhou, Zhiping

    2012-11-01

    The fiber-to-the-home (FTTH) systems are growing fast these days, where two different wavelengths are used for upstream and downstream traffic, typically 1310nm and 1490nm. The duplexers are the key elements to separate these wavelengths into different path in central offices (CO) and optical network unit (ONU) in passive optical network (PON). Multimode interference (MMI) has some benefits to be a duplexer including large fabrication tolerance, low-temperature dependence, and low-polarization dependence, but its size is too large to integrate in conventional case. Based on the silicon photonics platform, ultra-short silicon MMI duplexer was demonstrated to separate the 1310nm and 1490nm lights. By studying the theory of self-image phenomena in MMI, the first order images are adopted in order to keep the device short. A cascaded MMI structure was investigated to implement the wavelength splitting, where both the light of 1310nm and 1490nm was input from the same port, and the 1490nm light was coupling cross the first MMI and output at the cross-port in the device while the 1310nm light was coupling through the first and second MMI and output at the bar-port in the device. The experiment was carried on with the SOI wafer of 340nm top silicon. The cascaded MMI was investigated to fold the length of the duplexer as short as 117μm with the extinct ratio over 10dB.

  18. Management of patients with a short bowel

    PubMed Central

    Nightingale, Jeremy M D

    2001-01-01

    There are two common types of adult patient with a short bowel, those with jejunum in continuity with a functioning colon and those with a jejunostomy. Both groups have potential problems of undernutrition, but this is a greater problem in those without a colon, as they do not derive energy from anaerobic bacterial fermentation of carbohydrate to short chain fatty acids in the colon. Patients with a jejunostomy have major problems of dehydration, sodium and magnesium depletion all due to a large volume of stomal output. Both types of patient have lost at least 60 cm of terminal ileum and so will become deficient of vitamin B12. Both groups have a high prevalence of gallstones (45%) resulting from periods of biliary stasis. Patients with a retained colon have a 25% chance of developing calcium oxalate renal stones and they may have problems with D (-) lactic acidosis. The survival of patients with a short bowel, even if they need long-term parenteral nutrition, is good. PMID:11819867

  19. The Long and the Short of It

    NASA Technical Reports Server (NTRS)

    2006-01-01

    Gamma-Ray bursts, the extreme explosions that mark the birth of black holes, come in two flavors, long bursts lasting a few seconds or more, and short bursts lasting for less than a second. The mechanisms giving rise to these two types of bursts were, for a long time, unknown to astronomers. But a series of breakthroughs starting with BeppoSAX, HETE, and Swift gave astronomers some clues and confidence about the nature of long and short bursts. Long bursts mark the collapse of a young, extremely massive star into a black hole; short bursts mark the formation of a black hole by a merger of neutron stars (or perhaps a neutron star with a black hole to form a larger black hole). But a new observation has clouded this clear dichotomy. The picture above is an X-ray image of a gamma-ray burst, GRB 060614, taken by Swift's X-ray Telescope. This burst lasted more than 100 seconds, clearly showing that it's a long burst. But follow-up observations of the burst did not show the tell-tale signatures of a supernova explosion which should be produced by the collapse of a large star. Furthermore this burst occurred in a galaxy which has very few extremely massive stars. Does this hybrid burst represent an entirely new mechanism behind these titanic explosions? The hunt is on.

  20. Study of quiet turbofan STOL aircraft for short haul transportation

    NASA Technical Reports Server (NTRS)

    Higgins, T. P.; Stout, E. G.; Sweet, H. S.

    1973-01-01

    A study of quiet turbofan short takeoff aircraft for short haul air transportation was conducted. The objectives of the study were to: (1) define representative aircraft configurations, characteristics, and costs associated with their development, (2) identify critical technology and technology related problems to be resolved in successful introduction of representative short haul aircraft, (3) determine relationships between quiet short takeoff aircraft and the economic and social viability of short haul, and (4) identify high payoff technology areas.

  1. Microbial production of short-chain alkanes.

    PubMed

    Choi, Yong Jun; Lee, Sang Yup

    2013-10-24

    Increasing concerns about limited fossil fuels and global environmental problems have focused attention on the need to develop sustainable biofuels from renewable resources. Although microbial production of diesel has been reported, production of another much in demand transport fuel, petrol (gasoline), has not yet been demonstrated. Here we report the development of platform Escherichia coli strains that are capable of producing short-chain alkanes (SCAs; petrol), free fatty acids (FFAs), fatty esters and fatty alcohols through the fatty acyl (acyl carrier protein (ACP)) to fatty acid to fatty acyl-CoA pathway. First, the β-oxidation pathway was blocked by deleting the fadE gene to prevent the degradation of fatty acyl-CoAs generated in vivo. To increase the formation of short-chain fatty acids suitable for subsequent conversion to SCAs in vivo, the activity of 3-oxoacyl-ACP synthase (FabH), which is inhibited by unsaturated fatty acyl-ACPs, was enhanced to promote the initiation of fatty acid biosynthesis by deleting the fadR gene; deletion of the fadR gene prevents upregulation of the fabA and fabB genes responsible for unsaturated fatty acids biosynthesis. A modified thioesterase was used to convert short-chain fatty acyl-ACPs to the corresponding FFAs, which were then converted to SCAs by the sequential reactions of E. coli fatty acyl-CoA synthetase, Clostridium acetobutylicum fatty acyl-CoA reductase and Arabidopsis thaliana fatty aldehyde decarbonylase. The final engineered strain produced up to 580.8 mg l(-1) of SCAs consisting of nonane (327.8 mg l(-1)), dodecane (136.5 mg l(-1)), tridecane (64.8 mg l(-1)), 2-methyl-dodecane (42.8 mg l(-1)) and tetradecane (8.9 mg l(-1)), together with small amounts of other hydrocarbons. Furthermore, this platform strain could produce short-chain FFAs using a fadD-deleted strain, and short-chain fatty esters by introducing the Acinetobacter sp. ADP1 wax ester synthase (atfA) and the E. coli mutant

  2. MLL2 and KDM6A mutations in patients with Kabuki syndrome.

    PubMed

    Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun-ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi, Nobuhiko; Kubota, Masaya; Ito, Naoko; Ihara, Kenji; Hara, Toshiro; Tonoki, Hidefumi; Ohta, Tohru; Saito, Kayoko; Matsuo, Mari; Urano, Mari; Enokizono, Takashi; Sato, Astushi; Tanaka, Hiroyuki; Ogawa, Atsushi; Fujita, Takako; Hiraki, Yoko; Kitanaka, Sachiko; Matsubara, Yoichi; Makita, Toshio; Taguri, Masataka; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Yoshiura, Ko-ichiro; Matsumoto, Naomichi; Niikawa, Norio

    2013-09-01

    Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty-five MLL2 mutations and two KDM6A mutations were novel. Non-protein truncating-type MLL2 mutations were mainly located around functional domains, while truncating-type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations. PMID:23913813

  3. Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

    PubMed

    Frühmesser, Anne; Erdel, Martin; Duba, Hans-Christoph; Fauth, Christine; Amberger, Albert; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter

    2013-07-01

    De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a broad nasal root, a long philtrum, a thin and tented upper lip, a drooping lower lip, micrognathia, prominent ears, a short neck, and a low posterior hairline. Karyotype analysis and molecular investigations revealed a complex de novo chromosomal rearrangement on 7q. FISH analysis with locus specific YACs and BACs and SNP array with the Illumina(®) HumanOmni1-Quad v1.0 BeadChip disclosed a direct duplication in the long arm of chromosome 7 (q22.1→q32.2) and an inversion located at the breakpoint between the two copies of the duplication (q31.31→q31.33). In addition, breakpoint characterization at the molecular level revealed a 386 bp insertion carrying two Alu elements of chromosome 19p13.2 between the two copies of the duplication. By a comparison of the SNP haplotypes of the derivative chromosome of the patient and both parents a two-step formation during spermatogenesis was suggested as the most likely mechanism of formation. PMID:23608969

  4. Short rise time intense electron beam generator

    DOEpatents

    Olson, Craig L.

    1987-01-01

    A generator for producing an intense relativistic electron beam having a subnanosecond current rise time includes a conventional generator of intense relativistic electrons feeding into a short electrically conductive drift tube including a cavity containing a working gas at a low enough pressure to prevent the input beam from significantly ionizing the working gas. Ionizing means such as a laser simultaneously ionize the entire volume of working gas in the cavity to generate an output beam having a rise time less than one nanosecond.

  5. Short rise time intense electron beam generator

    DOEpatents

    Olson, C.L.

    1984-03-16

    A generator for producing an intense relativisitc electron beam having a subnanosecond current rise time includes a conventional generator of intense relativistic electrons feeding into a short electrically conductive drift tube including a cavity containing a working gas at a low enough pressure to prevent the input beam from significantly ionizing the working gas. Ionizing means such as a laser simultaneously ionize the entire volume of working gas in the cavity to generate an output beam having a rise time less than one nanosecond.

  6. Short review on solar energy systems

    NASA Astrophysics Data System (ADS)

    Herez, Amal; Ramadan, Mohamad; Abdulhay, Bakri; Khaled, Mahmoud

    2016-07-01

    Solar energy can be utilized mainly in heat generation and electricity production. International energy agency (IEA) shows, in a comparative study on the world energy consumption that in 2050 solar arrays installation will provide about 45% of world energy demand. Solar energy is one of the most important renewable energy source which plays a great role in providing energy solutions. As known there is wide variety of types of collectors and applications of solar energy. This paper aimed to make a short review on solar energy systems, according to types of collectors and applications used.

  7. The Fermilab short-baseline neutrino program

    SciTech Connect

    Camilleri, Leslie

    2015-10-15

    The Fermilab short-baseline program is a multi-facetted one. Primarily it searches for evidence of sterile neutrinos as hinted at by the MiniBooNE and LSND results. It will also measure a whole suite of ν-Argon cross sections which will be very useful in future liquid argon long-baseline projects. The program is based on MicroBooNE, already installed in the beam line, the recently approved LAr1-ND and the future addition of the refurbished ICARUS.

  8. Short Bowel Syndrome in the Nicu

    PubMed Central

    Amin, Sachin C.; Pappas, Cleo; Iyengar, Hari

    2013-01-01

    Short bowel syndrome (SBS) is the most common cause of intestinal failure in infants. In neonates and young infants, necrotizing enterocolitis, gastroschisis, intestinal atresia and intestinal malrotation/volvulus are the leading causes of SBS. Following an acute post-surgical phase, the residual gastrointestinal tract adapts with reorganization of the crypt-villus histoarchitecture and functional changes in nutrient absorption and motility. A cohesive, multidisciplinary approach can allow most neonates with SBS to transition to full enteral feeds and achieve normal growth and development. In this article, we review the clinical features, management, complications, and prognostic factors in SBS. PMID:23415263

  9. Modulation compression for short wavelength harmonic generation

    SciTech Connect

    Qiang, J.

    2010-01-11

    Laser modulator is used to seed free electron lasers. In this paper, we propose a scheme to compress the initial laser modulation in the longitudinal phase space by using two opposite sign bunch compressors and two opposite sign energy chirpers. This scheme could potentially reduce the initial modulation wavelength by a factor of C and increase the energy modulation amplitude by a factor of C, where C is the compression factor of the first bunch compressor. Such a compressed energy modulation can be directly used to generate short wavelength current modulation with a large bunching factor.

  10. Colliding droplets: a short film presentation

    SciTech Connect

    Hendricks, C.D.

    1981-12-22

    A series of experiments were performed in which liquid droplets were caused to collide. Impact velocities to several meters per second and droplet diameters up to 600 micrometers were used. The impact parameters in the collisions vary from zero to greater than the sum of the droplet radii. Photographs of the collisions were taken with a high speed framing camera in order to study the impacts and subsequent behavior of the droplets. The experiments will be discussed and a short movie film presentation of some of the impacts will be shown.

  11. Is visual short-term memory depthful?

    PubMed

    Reeves, Adam; Lei, Quan

    2014-03-01

    Does visual short-term memory (VSTM) depend on depth, as it might be if information was stored in more than one depth layer? Depth is critical in natural viewing and might be expected to affect retention, but whether this is so is currently unknown. Cued partial reports of letter arrays (Sperling, 1960) were measured up to 700 ms after display termination. Adding stereoscopic depth hardly affected VSTM capacity or decay inferred from total errors. The pattern of transposition errors (letters reported from an uncued row) was almost independent of depth and cue delay. We conclude that VSTM is effectively two-dimensional. PMID:24491386

  12. Short-cavity squeezing in barium

    NASA Technical Reports Server (NTRS)

    Hope, D. M.; Bachor, H-A.; Manson, P. J.; Mcclelland, D. E.

    1992-01-01

    Broadband phase sensitive noise and squeezing were experimentally observed in a system of barium atoms interacting with a single mode of a short optical cavity. Squeezing of 13 +/- 3 percent was observed. A maximum possible squeezing of 45 +/- 8 percent could be inferred for out experimental conditions, after correction for measured loss factors. Noise reductions below the quantum limit were found over a range of detection frequencies 60-170 MHz and were best for high cavity transmission and large optical depths. The amount of squeezing observed is consistent with theoretical predictions from a full quantum statistical model of the system.

  13. Failure Prevention by Short Time Corrosion Tests

    SciTech Connect

    MICKALONIS, JOHN

    2005-05-01

    Short time corrosion testing of perforated sheets and wire meshes fabricated from Type 304L stainless steel, Alloy 600 and C276 showed that 304L stainless steel perforated sheet should perform well as the material of construction for dissolver baskets. The baskets will be exposed to hot nitric acid solutions and are limited life components. The corrosion rates of the other alloys and of wire meshes were too high for useful extended service. Test results also indicated that corrosion of the dissolver should drop quickly during the dissolutions due to the inhibiting effects of the corrosion products produced by the dissolution processes.

  14. Use of Both the Short Musculoskeletal Function Assessment Questionnaire and the Short Form-36 among Tibial Fracture Patients was Redundant

    PubMed Central

    2009-01-01

    Objective To compare the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary scores among patients undergoing operative management of tibial fractures. Study Design and Setting Between July 2000 and September 2005, we enrolled 1319 skeletally mature patients with open or closed fractures of the tibial shaft that were managed with intramedullary nailing. Patients were asked to complete the Short Musculoskeletal Function Assessment and Short Form-36 at discharge and 3, 6, and 12 months post surgical fixation. Results Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were highly correlated at 3, 6, and 12 months post surgical fixation. The difference in mean standardized change scores for the Short Musculoskeletal Function Assessment Dysfunction Index and the Short Form-36 Physical Component Summary, from 3 to 12 months post-surgical fixation, was not statistically significant. Both the Short Musculoskeletal Function Assessment Dysfunction Index and Short Form-36 Physical Component Summary scores were able to discriminate between healed and non-healed tibial fractures at 3, 6, and 12 months post surgery. Conclusion In patients with tibial shaft fractures, the Short Musculoskeletal Function Assessment Dysfunction Index offered no important advantages over the Short Form-36 Physical Component Summary score. These results, along with the usefulness of the Short Form-36 for comparing populations, recommends the Short Form-36 for assessing physical function in studies of patients with tibial fractures. PMID:19364637

  15. Short-term energy outlook, January 1999

    SciTech Connect

    1999-01-01

    The Energy Information Administration (EIA) prepares the Short-Term Energy Outlook (energy supply, demand, and price projections) monthly. The forecast period for this issue of the Outlook extends from January 1999 through December 2000. Data values for the fourth quarter 1998, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the January 1999 version of the Short-Term Integrated Forecasting System (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. The STIFS model is driven principally by three sets of assumptions or inputs: estimates of key macroeconomic variables, world oil price assumptions, and assumptions about the severity of weather. Macroeconomic estimates are produced by DRI/McGraw-Hill but are adjusted by EIA to reflect EIA assumptions about the world price of crude oil, energy product prices, and other assumptions which may affect the macroeconomic outlook. By varying the assumptions, alternative cases are produced by using the STIFS model. 28 figs., 19 tabs.

  16. Short-term energy outlook, July 1998

    SciTech Connect

    1998-07-01

    The Energy Information Administration (EIA) prepares The Short-Term Energy Outlook (energy supply, demand, and price projections) monthly for distribution on the internet at: www.eia.doe.gov/emeu/steo/pub/contents.html. In addition, printed versions of the report are available to subscribers in January, April, July and October. The forecast period for this issue of the Outlook extends from July 1998 through December 1999. Values for second quarter of 1998 data, however, are preliminary EIA estimates (for example, some monthly values for petroleum supply and disposition are derived in part from weekly data reported in EIA`s Weekly Petroleum Status Report) or are calculated from model simulations that use the latest exogenous information available (for example, electricity sales and generation are simulated by using actual weather data). The historical energy data, compiled in the July 1998 version of the Short-Term Integrated Forecasting System (STIFS) database, are mostly EIA data regularly published in the Monthly Energy Review, Petroleum Supply Monthly, and other EIA publications. Minor discrepancies between the data in these publications and the historical data in this Outlook are due to independent rounding. 28 figs., 19 tabs.

  17. Short wavelength FELs using the SLAC linac

    SciTech Connect

    Winick, H.; Bane, K.; Boyce, R.

    1993-08-01

    Recent technological developments have opened the possibility to construct a device which we call a Linac Coherent Light Source (LCLS); a fourth generation light source, with brightness, coherence, and peak power far exceeding other sources. Operating on the principle of the free electron laser (FEL), the LCLS would extend the range of FEL operation to much aborter wavelength than the 240 mn that has so far been reached. We report the results of studies of the use of the SLAC linac to drive an LCLS at wavelengths from about 3-100 nm initially and possibly even shorter wavelengths in the future. Lasing would be achieved in a single pass of a low emittance, high peak current, high energy electron beam through a long undulator. Most present FELs use an optical cavity to build up the intensity of the light to achieve lasing action in a low gain oscillator configuration. By eliminating the optical cavity, which is difficult to make at short wavelengths, laser action can be extended to shorter wavelengths by Self-Amplified-Spontaneous-Emission (SASE), or by harmonic generation from a longer wavelength seed laser. Short wavelength, single pass lasers have been extensively studied at several laboratories and at recent workshops.

  18. Short ischemia induces rat kidney mitochondria dysfunction.

    PubMed

    Baniene, Rasa; Trumbeckas, Darius; Kincius, Marius; Pauziene, Neringa; Raudone, Lina; Jievaltas, Mindaugas; Trumbeckaite, Sonata

    2016-02-01

    Renal artery clamping itself induces renal ischemia which subsequently causes renal cell injury and can lead to renal failure. The duration of warm ischemia that would be safe for postoperative kidney function during partial nephrectomy remains under investigations. Mitochondria play an important role in pathophysiology of ischemia-reperfusion induced kidney injury, however relation between ischemia time and mitochondrial dysfunction are not fully elucidated. Thus, the effects of renal ischemia (20 min, 40 min and 60 min) on mitochondrial functions were investigated by using in vitro rat ischemia model. Thus, electronmicroscopy showed that at short (20 min) ischemia mitochondria start to swell and the damage increases with the duration of ischemia. In accordance with this, a significant decrease in mitochondrial oxidative phosphorylation capacity was observed already after 20 min of ischemia with both, complex I dependent substrate glutamate/malate (52%) and complex II dependent substrate succinate (44%) which further decreased with the prolonged time of ischemia. The diminished state 3 respiration rate was associated with the decrease in mitochondrial Complex I activity and the release of cytochrome c. Mitochondrial Ca(2+) uptake was diminished by 37-49% after 20-60 min of ischemia and caspase-3 activation increased by 1.15-2.32-fold as compared to control. LDH activity changed closely with increasing time of renal ischemia. In conclusion, even short time (20 min) of warm ischemia in vitro leads to renal mitochondrial injury which increases progressively with the duration of ischemia. PMID:26782060

  19. Developing Short Films of Geoscience Research

    NASA Astrophysics Data System (ADS)

    Shipman, J. S.; Webley, P. W.; Dehn, J.; Harrild, M.; Kienenberger, D.; Salganek, M.

    2015-12-01

    In today's prevalence of social media and networking, video products are becoming increasingly more useful to communicate research quickly and effectively to a diverse audience, including outreach activities as well as within the research community and to funding agencies. Due to the observational nature of geoscience, researchers often take photos and video footage to document fieldwork or to record laboratory experiments. Here we present how researchers can become more effective storytellers by collaborating with filmmakers to produce short documentary films of their research. We will focus on the use of traditional high-definition (HD) camcorders and HD DSLR cameras to record the scientific story while our research topic focuses on the use of remote sensing techniques, specifically thermal infrared imaging that is often used to analyze time varying natural processes such as volcanic hazards. By capturing the story in the thermal infrared wavelength range, in addition to traditional red-green-blue (RGB) color space, the audience is able to experience the world differently. We will develop a short film specifically designed using thermal infrared cameras that illustrates how visual storytellers can use these new tools to capture unique and important aspects of their research, convey their passion for earth systems science, as well as engage and captive the viewer.

  20. Short hyperdynamic profiles influence primate temperature regulation

    NASA Technical Reports Server (NTRS)

    Fuller, C. A.; Williams, B. A.

    1982-01-01

    Primates have been shown to be sensitive to hyperdynamic fields. That is, when exposed to + 2Gz, body temperature falls. The purpose of this study was to examine the relative sensitivity of these animals to short centrifugation profiles which mimic the gravitational envelope seen on the Space Shuttle during launch (8 minutes, 2.9 Gz max) and re-entry (19 min, 1.7 Gz max). Four loosely restrained squirrel monkeys, isolated from additional external stimuli, were exposed to these profiles. During launch simulation, the temperatures never fell markedly below control levels. However, subsequent to return to 1G, the recovery phase showed decreases in body temperature in all four animals averaging 0.4 C over the next 10 to 15 minutes. The two animals exposed to the reentry profile showed decreases in body temperature within five minutes of the onset of centrifugation. Maximum fall in body temperature was reached by the end of the centrifugation phase and averaged 0.7 C. Thus, the temperature regulation system of this primate is sensitive to short hyperdynamic field exposures.