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Sample records for abnormalities short stature

  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. 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.

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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.

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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

  19. 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 ...

  20. 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.

  1. 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

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. [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

  10. 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

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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…

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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

  1. 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

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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.

  12. 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.

  13. 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

  14. [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

  15. [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.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. 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

  19. 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

  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. 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. 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

  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. PMID:24833789

  10. 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.

  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. 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.

  14. 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

  15. 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

  16. 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

  17. 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.

  18. 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

  19. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

    PubMed Central

    Richieri-Costa, A; Garcia da Silva, S M; Frota-Pessoa, O

    1984-01-01

    Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome. Images PMID:6716408

  20. AB155. Clinical presentation and its relationship with chromosomal abnormalities in Turner syndrome

    PubMed Central

    Thao, Bui Phuong; Dung, Vu Chi; Khanh, Nguyen Ngoc; Ngoc, Can Thi Bich; Hoan, Nguyen Thi; Phuong, Nguyen Thi

    2015-01-01

    Background Turner syndrome is a relatively common chromosomal disorder. The disease affects only females, causing hypogonadism and short stature. Early treatment can improve short stature and hypogonadism. The study aims to describe chromosomal abnormalities, clinical characteristics and its relationship with chromosomal abnormalities in patients with Turner syndrome. Methods A total of 213 patients with Turner syndrome diagnosed in National Hospital of Pediatrics, Hanoi. A cross section study was used. Results Mean age on diagnosis was 12.2±4.9 years. Monosomy 45,XO occupied 54,31%; 45,X/46,XX was seen in 14.66%; 27.59% had structural disorders of chromosome X. Short stature was found in all patients aged more than 15 years. Severity of short stature and percentage of patients with short stature went up with age. There was no difference in term of height between karyotype groups. In group aged ≥12 years, 95.2% of cases had hypogonadism. Other symptoms frequently seen were nail hypoplasia (77.4%), cubitus valgus (74.7%), broad chest (69.2%)/abnormalities in face and neck were epicanthic fold (55.6%), low posterior line (51.3%), excessive skin in the back of the neck/webbed neck (42.5%). In a group aged <1 year, lymphoedema of hands/feet, epicanthic fold, broad chest, cubitus valgus were found in 100%. Majority of symptoms, congenital defects of heart/kidney were seen more frequently in 45,X group. Conclusions Lymphoedema of hands/feet in infants, low growth velocity, delayed puberty, abnormalities in face and neck, and other symptoms should be checked to early diagnose and treat Turner syndrome. Patients with 45,X had more severe presentation compared to patients with 45,X/46,XX and structural abnormalities of X chromosome.

  1. 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.

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

    PubMed

    Nishimura, G; Haga, Y; Aoki, K; Hasegawa, T

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. PMID:9880644

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

    PubMed

    Merrill, Amy E; Merriman, Barry; Farrington-Rock, Claire; Camacho, Natalia; Sebald, Eiman T; Funari, Vincent A; Schibler, Matthew J; Firestein, Marc H; Cohn, Zachary A; Priore, Mary Ann; Thompson, Alicia K; Rimoin, David L; Nelson, Stanley F; Cohn, Daniel H; Krakow, Deborah

    2009-04-01

    The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth.

  8. 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

  9. 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

  10. 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.

  11. Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy

    PubMed Central

    Wojtkowiak-Szlachcic, Agnieszka; Taylor, Katarzyna; Stepniak-Konieczna, Ewa; Sznajder, Lukasz J.; Mykowska, Agnieszka; Sroka, Joanna; Thornton, Charles A.; Sobczak, Krzysztof

    2015-01-01

    Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by expansion of CTG triplet repeats in 3′-untranslated region of DMPK gene. The pathomechanism of DM1 is driven by accumulation of toxic transcripts containing expanded CUG repeats (CUGexp) in nuclear foci which sequester several factors regulating RNA metabolism, such as Muscleblind-like proteins (MBNLs). In this work, we utilized very short chemically modified antisense oligonucleotides composed exclusively of locked nucleic acids (all-LNAs) complementary to CUG repeats, as potential therapeutic agents against DM1. Our in vitro data demonstrated that very short, 8- or 10-unit all-LNAs effectively bound the CUG repeat RNA and prevented the formation of CUGexp/MBNL complexes. In proliferating DM1 cells as well as in skeletal muscles of DM1 mouse model the all-LNAs induced the reduction of the number and size of CUGexp foci and corrected MBNL-sensitive alternative splicing defects with high efficacy and specificity. The all-LNAs had low impact on the cellular level of CUGexp-containing transcripts and did not affect the expression of other transcripts with short CUG repeats. Our data strongly indicate that short all-LNAs complementary to CUG repeats are a promising therapeutic tool against DM1. PMID:25753670

  12. Microstructural Abnormalities of Short-Distance White Matter Tracts in Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Shukla, Dinesh K.; Keehn, Brandon; Smylie, Daren M.; Muller, Ralph-Axel

    2011-01-01

    Recent functional connectivity magnetic resonance imaging and diffusion tensor imaging (DTI) studies have suggested atypical functional connectivity and reduced integrity of long-distance white matter fibers in autism spectrum disorder (ASD). However, evidence for short-distance white matter fibers is still limited, despite some speculation of…

  13. Early recognition of growth abnormalities permitting early intervention

    PubMed Central

    Haymond, Morey; Kappelgaard, Anne-Marie; Czernichow, Paul; Biller, Beverly MK; Takano, Koji; Kiess, Wieland

    2013-01-01

    Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. Conclusion This review summarizes currently available information on monitoring for short stature in children and conditions usually associated with short stature and summarizes the authors’ conclusions on the early recognition of growth disorders. PMID:23586744

  14. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

    PubMed

    de Barros, Guilherme Monteiro; Kakehasi, Adriana Maria

    2016-01-01

    The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints. PMID:27267340

  15. Robust algorithmic detection of the developed cardiac pathologies and emerging or transient abnormalities from short periods of RR data

    NASA Astrophysics Data System (ADS)

    Gavrishchaka, Valeriy V.; Senyukova, Olga

    2011-06-01

    Numerous research efforts and clinical testing have confirmed validity of heart rate variability (HRV) analysis as one of the cardiac diagnostics modalities. The majority of HRV analysis tools currently used in practice are based on linear indicators. Methods from nonlinear dynamics (NLD) provide more natural modeling framework for adaptive biological systems with multiple feedback loops. Compared to linear indicators, many NLD-based measures are much less sensitive to data artifacts and non-stationarity. However, majority of NLD measures require long time series for stable calculation. Similar restrictions also apply for linear indicators. Such requirements could drastically limit practical usability of HRV analysis in many applications, including express diagnostics, early indication of subtle directional changes during personalization of medical treatment, and robust detection of emerging or transient abnormalities. Recently we have illustrated that these challenges could be overcome by using classification framework based on boosting-like ensemble learning techniques that are capable of discovering robust meta-indicators from existing HRV measures and other incomplete empirical knowledge. In this paper we demonstrate universality of such meta-indicators and discuss operational details of their practical usage. Using such pathology examples as congestive heart failure (CHF) and arrhythmias, we show that classifiers trained on short RR segments (down to several minutes) could achieve reasonable classification accuracy (˜80-85% and higher). These indicators calculated from longer RR segments could be applicable for accurate diagnostics with classification accuracy approaching 100%. In addition, it is feasible to discover single "normal-abnormal" meta-classifier capable of detecting multiple abnormalities.

  16. Short-Term Treatment with Bisphenol-A Leads to Metabolic Abnormalities in Adult Male Mice

    PubMed Central

    Batista, Thiago M.; Alonso-Magdalena, Paloma; Vieira, Elaine; Amaral, Maria Esmeria C.; Cederroth, Christopher R.; Nef, Serge; Quesada, Ivan; Carneiro, Everardo M.; Nadal, Angel

    2012-01-01

    Bisphenol-A (BPA) is one of the most widespread endocrine disrupting chemicals (EDC) used as the base compound in the manufacture of polycarbonate plastics. Although evidence points to consider exposure to BPA as a risk factor for insulin resistance, its actions on whole body metabolism and on insulin-sensitive tissues are still unclear. The aim of the present work was to study the effects of low doses of BPA in insulin-sensitive peripheral tissues and whole body metabolism in adult mice. Adult mice were treated with subcutaneous injection of 100 µg/kg BPA or vehicle for 8 days. Whole body energy homeostasis was assessed with in vivo indirect calorimetry. Insulin signaling assays were conducted by western blot analysis. Mice treated with BPA were insulin resistant and had increased glucose-stimulated insulin release. BPA-treated mice had decreased food intake, lower body temperature and locomotor activity compared to control. In skeletal muscle, insulin-stimulated tyrosine phosphorylation of the insulin receptor β subunit was impaired in BPA-treated mice. This impairment was associated with a reduced insulin-stimulated Akt phosphorylation in the Thr308 residue. Both skeletal muscle and liver displayed an upregulation of IRS-1 protein by BPA. The mitogen-activated protein kinase (MAPK) signaling pathway was also impaired in the skeletal muscle from BPA-treated mice. In the liver, BPA effects were of lesser intensity with decreased insulin-stimulated tyrosine phosphorylation of the insulin receptor β subunit. In conclusion, short-term treatment with low doses of BPA slows down whole body energy metabolism and disrupts insulin signaling in peripheral tissues. Thus, our findings support the notion that BPA can be considered a risk factor for the development of type 2 diabetes. PMID:22470480

  17. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

    PubMed

    Gilbert-Dussardier, Brigitte; Briand-Suleau, Audrey; Laurendeau, Ingrid; Bilan, Frédéric; Cavé, Hélène; Verloes, Alain; Vidaud, Michel; Vidaud, Dominique; Pasmant, Eric

    2016-01-01

    RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS/MAPK pathway genes (PTPN11, RAF1, MEK2, or SHOC2) were more rarely described. Here we report, a syndromic familial case of a 12p duplication encompassing the dosage sensitive gene KRAS, whose phenotype overlapped with rasopathies. The patient was referred because of a history of mild learning disabilities, small size, facial dysmorphy, and pigmentation abnormalities (café-au-lait and achromic spots, and axillar lentigines). This phenotype was reminiscent of rasopathies. No mutation was identified in the most common genes associated with Noonan, cardio-facio-cutaneous, Legius, and Costello syndromes, as well as neurofibromatosis type 1. The patient constitutional DNA exhibited a ~10.5 Mb duplication at 12p, including the KRAS gene. The index case's mother carried the same chromosome abnormality and also showed development delay with short stature, and numerous café-au-lait spots. Duplication of the KRAS gene may participate in the propositus phenotype, in particular of the specific pigmentation abnormalities. Array-CGH or some other assessment of gene/exon CNVs of RAS/MAPK pathway genes should be considered in the evaluation of individuals with rasopathies. PMID:27450488

  18. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality

    SciTech Connect

    Migliori, M.V.; Pettinari, A.; Cherubini, V.; Bartolotta, E.; Pecora, R.

    1994-01-01

    The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs.

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. 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

  4. 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.

  5. Psychiatric syndromes in individuals with chromosome 18 abnormalities.

    PubMed

    Zavala, Juan; Ramirez, Mercedes; Medina, Rolando; Heard, Patricia; Carter, Erika; Crandall, AnaLisa; Hale, Daniel; Cody, Jannine; Escamilla, Michael

    2010-04-01

    Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions. PMID:19927307

  6. 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

  7. 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.

  8. 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

  9. [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.

  10. 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.

  11. Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

    PubMed Central

    Kerr, B; Ashcroft, G S; Scott, D; Horan, M A; Ferguson, M W; Donnai, D

    1996-01-01

    Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity of lymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes. Images PMID:8950673

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

    PubMed Central

    Lange, Renata; Von Linsingen, Caoê; Mata, Fernanda; Moraes, Aline Barbosa; Arruda, Mariana

    2015-01-01

    Summary Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yet been reported. A 20-year-old female patient had facial dysmorphism, short stature, psychomotor developmental delays, a ventricular septal defect, and thrombocytopenia. Karyotyping demonstrated RC11 (46,XX,r(11)(p15q25)). This patient presented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the long arm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed by severe hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2 diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovary syndrome. Endocrine abnormalities are rare in patients with RC11, and the association of RC11 with precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM has not been reported previously. We speculate that gene(s) located on chromosome 11 might be involved in the pathogenesis of these conditions. Despite the rarity of RCs, studies to correlate the genes located on the chromosomes with the phenotypes observed could lead to major advances in the understanding and treatment of more prevalent diseases. Learning points We hypothesize that the endocrine features of precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM might be associated with 11q-syndrome.A karyotype study should be performed in patients with short

  19. Meiotic abnormalities

    SciTech Connect

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  20. 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

  1. 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.

  2. 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

  3. Craniofacial Abnormalities

    MedlinePlus

    ... of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ... palate, are among the most common of all birth defects. Others are very rare. Most of them affect ...

  4. Chromosome Abnormalities

    MedlinePlus

    ... decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. These newer methods compare the patient's DNA to a normal DNA ...

  5. Walking abnormalities

    MedlinePlus

    ... include: Arthritis of the leg or foot joints Conversion disorder (a psychological disorder) Foot problems (such as a ... injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are strongly ...

  6. Nail abnormalities

    MedlinePlus

    Beau's lines; Fingernail abnormalities; Spoon nails; Onycholysis; Leukonychia; Koilonychia; Brittle nails ... Just like the skin, the fingernails tell a lot about your health: ... the fingernail. These lines can occur after illness, injury to ...

  7. 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.

  8. 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

  9. 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.

  10. Early recognition of growth abnormalities permitting early intervention

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. This rev...

  11. [Hair shaft abnormalities].

    PubMed

    Itin, P H; Düggelin, M

    2002-05-01

    Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

  12. 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

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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.

  19. 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

  20. Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

    PubMed

    Maya, Idit; Vinkler, Chana; Konen, Osnat; Kornreich, Liora; Steinberg, Tamar; Yeshaya, Josepha; Latarowski, Victoria; Shohat, Mordechai; Lev, Dorit; Baris, Hagit N

    2014-08-01

    Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management.

  1. 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

  2. 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.

  3. Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia

    PubMed Central

    Matsushita, Masaki; Kitoh, Hiroshi; Ohkawara, Bisei; Mishima, Kenichi; Kaneko, Hiroshi; Ito, Mikako; Masuda, Akio; Ishiguro, Naoki; Ohno, Kinji

    2013-01-01

    Achondroplasia (ACH) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in FGFR3 encoding the fibroblast growth factor receptor 3. We used the drug repositioning strategy to identify an FDA-approved drug that suppresses abnormally activated FGFR3 signaling in ACH. We found that meclozine, an anti-histamine drug that has long been used for motion sickness, facilitates chondrocyte proliferation and mitigates loss of extracellular matrix in FGF2-treated rat chondrosarcoma (RCS) cells. Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. Similarly, meclozine alleviated abnormally suppressed differentiation of ATDC5 chondrogenic cells expressing FGFR3-K650E and -G380R in micromass culture. We also confirmed that meclozine alleviates FGF2-mediated longitudinal growth inhibition of embryonic tibia in bone explant culture. Interestingly, meclozine enhanced growth of embryonic tibia in explant culture even in the absence of FGF2 treatment. Analyses of intracellular FGFR3 signaling disclosed that meclozine downregulates phosphorylation of ERK but not of MEK in FGF2-treated RCS cells. Similarly, meclozine enhanced proliferation of RCS cells expressing constitutively active mutants of MEK and RAF but not of ERK, which suggests that meclozine downregulates the FGFR3 signaling by possibly attenuating ERK phosphorylation. We used the C-natriuretic peptide (CNP) as a potent inhibitor of the FGFR3 signaling throughout our experiments, and found that meclozine was as efficient as CNP in attenuating the abnormal FGFR3 signaling. We propose that meclozine is a potential therapeutic agent for treating ACH and other FGFR3-related skeletal dysplasias. PMID:24324705

  4. Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia.

    PubMed

    Matsushita, Masaki; Kitoh, Hiroshi; Ohkawara, Bisei; Mishima, Kenichi; Kaneko, Hiroshi; Ito, Mikako; Masuda, Akio; Ishiguro, Naoki; Ohno, Kinji

    2013-01-01

    Achondroplasia (ACH) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in FGFR3 encoding the fibroblast growth factor receptor 3. We used the drug repositioning strategy to identify an FDA-approved drug that suppresses abnormally activated FGFR3 signaling in ACH. We found that meclozine, an anti-histamine drug that has long been used for motion sickness, facilitates chondrocyte proliferation and mitigates loss of extracellular matrix in FGF2-treated rat chondrosarcoma (RCS) cells. Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. Similarly, meclozine alleviated abnormally suppressed differentiation of ATDC5 chondrogenic cells expressing FGFR3-K650E and -G380R in micromass culture. We also confirmed that meclozine alleviates FGF2-mediated longitudinal growth inhibition of embryonic tibia in bone explant culture. Interestingly, meclozine enhanced growth of embryonic tibia in explant culture even in the absence of FGF2 treatment. Analyses of intracellular FGFR3 signaling disclosed that meclozine downregulates phosphorylation of ERK but not of MEK in FGF2-treated RCS cells. Similarly, meclozine enhanced proliferation of RCS cells expressing constitutively active mutants of MEK and RAF but not of ERK, which suggests that meclozine downregulates the FGFR3 signaling by possibly attenuating ERK phosphorylation. We used the C-natriuretic peptide (CNP) as a potent inhibitor of the FGFR3 signaling throughout our experiments, and found that meclozine was as efficient as CNP in attenuating the abnormal FGFR3 signaling. We propose that meclozine is a potential therapeutic agent for treating ACH and other FGFR3-related skeletal dysplasias. PMID:24324705

  5. 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…

  6. 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

  7. 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

  8. 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.

  9. 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

  10. 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

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. Chromosome abnormalities in glioma

    SciTech Connect

    Li, Y.S.; Ramsay, D.A.; Fan, Y.S.

    1994-09-01

    Cytogenetic studies were performed in 25 patients with gliomas. An interesting finding was a seemingly identical abnormality, an extra band on the tip of the short arm of chromosome 1, add(1)(p36), in two cases. The abnormality was present in all cells from a patient with a glioblastoma and in 27% of the tumor cells from a patient with a recurrent irradiated anaplastic astrocytoma; in the latter case, 7 unrelated abnormal clones were identified except 4 of those clones shared a common change, -Y. Three similar cases have been described previously. In a patient with pleomorphic astrocytoma, the band 1q42 in both homologues of chromosome 1 was involved in two different rearrangements. A review of the literature revealed that deletion of the long arm of chromosome 1 including 1q42 often occurs in glioma. This may indicate a possible tumor suppressor gene in this region. Cytogenetic follow-up studies were carried out in two patients and emergence of unrelated clones were noted in both. A total of 124 clonal breakpoints were identified in the 25 patients. The breakpoints which occurred three times or more were: 1p36, 1p22, 1q21, 1q25, 3q21, 7q32, 8q22, 9q22, 16q22, and 22q13.

  16. 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.

  17. [Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].

    PubMed

    Syrbe, S; Eberle, K; Strenge, S; Bernhard, M K; Herbertz, S; Bierbach, U; Hirsch, W; Froster, U G; Kiess, W; Merkenschlager, A

    2007-01-01

    Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1. Besides the classic criteria café-au-lait spots (100%), freckling (48,1%), positive family history (44,1%), neurofibromas (40,7%), Lisch nodules (22,2%) and optic pathway tumors (22,2%) there were developmental delay (40,7%), macrocephaly (33,3%), strabism (29,6%), scoliosis (18,5%), epilepsy (14,8%), pubertal anomalies (14,8%), short stature (11,1%) and tics. Morphologically, CNS hamartomas (55,5%), astrocytomas (22,2%) and one pheochromocytoma became apparent. Special findings consist of one aneurysm of internal carotic arteria, juvenile xanthogranulomas, a case of pulmonary stenosis and an intracardial tumor. Four new mutations in the NF1 gene were found. Regular screening of optic glioma with MRI had no clinical significance. In contrast to other authors, one of our patients with optic glioma showed clinical progress after twelve years of age. The detection of astrocytomas led only to therapeutic consequences, when clinical signs or symptoms occurred. As with other authors, we found no potential for CNS hamartoma to proliferate. In three cases with pubertal anomalies we found CNS gliomas, which indicates the need for MRI. The expense of screening, apart from clinical surveillance, seems inadequate in relation to clinical relevance and costs. We describe four new mutations in the NF1 gene; there have been no specific genotype-phenotype correlations. Neurofibromatosis type 1 and associated clinical abnormalities in 27 children. PMID:18183640

  18. 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.

  19. 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.

  20. 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.

  1. In boys with abnormal developmental tempo, maturation of the skeleton and the hypothalamic-pituitary-gonadal axis remains synchronous.

    PubMed

    Flor-Cisneros, Armando; Leschek, Ellen W; Merke, Deborah P; Barnes, Kevin M; Coco, Marilena; Cutler, Gordon B; Baron, Jeffrey

    2004-01-01

    The primary mechanism that initiates puberty is unknown. One possible clue is that pubertal maturation often parallels skeletal maturation. Conditions that delay skeletal maturation also tend to delay the onset of puberty, whereas conditions that accelerate skeletal maturation tend to hasten the onset of puberty. To examine this relationship, we studied boys with congenital adrenal hyperplasia (n = 13) and familial male-limited precocious puberty (n = 22), two conditions that accelerate maturational tempo, and boys with idiopathic short stature (n = 18) in which maturational tempo is sometimes delayed. In all three conditions, the onset of central puberty generally occurred at an abnormal chronological age but a normal bone age. Boys with the greatest skeletal advancement began central puberty at the earliest age, whereas boys with the greatest skeletal delay began puberty at the latest age. Furthermore, the magnitude of the skeletal advancement or delay matched the magnitude of the pubertal advancement or delay. This synchrony between skeletal maturation and hypothalamic-pituitary-gonadal axis maturation was observed among patients within each condition and also between conditions. In contrast, the maturation of the hypothalamic-pituitary-gonadal axis did not remain synchronous with other maturational processes including weight, height, or body mass index. We conclude that in boys with abnormal developmental tempo, maturation of the skeleton and the hypothalamic-pituitary-gonadal axis remains synchronous. This synchrony is consistent with the hypothesis that in boys, skeletal maturation influences hypothalamic-pituitary-gonadal axis maturation.

  2. 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.

  3. 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.

  4. 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.

  5. Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

    PubMed Central

    Miskinyte, Snaigune; Butler, Matthew G.; Hervé, Dominique; Sarret, Catherine; Nicolino, Marc; Petralia, Jacob D.; Bergametti, Francoise; Arnould, Minh; Pham, Van N.; Gore, Aniket V.; Spengos, Konstantinos; Gazal, Steven; Woimant, France; Steinberg, Gary K.; Weinstein, Brant M.; Tournier-Lasserve, Elisabeth

    2011-01-01

    Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoya angiopathy can either be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions, including neurofibromatosis, Down syndrome, TAAD (autosomal-dominant thoracic aortic aneurysm), and radiotherapy of head tumors (moyamoya syndromes). Its prevalence is ten times higher in Japan than in Europe, and an estimated 6%–12% of moyamoya disease is familial in Japan. The pathophysiological mechanisms of this condition remain obscure. Here, we report on three unrelated families affected with an X-linked moyamoya syndrome characterized by the association of a moyamoya angiopathy, short stature, and a stereotyped facial dysmorphism. Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. We show that this syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB and BRCC3. We also show that brcc3 morphant zebrafish display angiogenesis defects that are rescued by endothelium-specific expression of brcc3. Altogether, these data strongly suggest that BRCC3, a deubiquitinating enzyme that is part of the cellular BRCA1 and BRISC complexes, is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy. PMID:21596366

  6. 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

  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.

  8. 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.

  9. 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

  10. 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

  11. 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

  12. 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.

  13. MicroRNA396-Targeted SHORT VEGETATIVE PHASE Is Required to Repress Flowering and Is Related to the Development of Abnormal Flower Symptoms by the Phyllody Symptoms1 Effector.

    PubMed

    Yang, Chiao-Yin; Huang, Yu-Hsin; Lin, Chan-Pin; Lin, Yen-Yu; Hsu, Hao-Chun; Wang, Chun-Neng; Liu, Li-Yu Daisy; Shen, Bing-Nan; Lin, Shih-Shun

    2015-08-01

    Leafy flowers are the major symptoms of peanut witches' broom (PnWB) phytoplasma infection in Catharanthus roseus. The orthologs of the phyllody symptoms1 (PHYL1) effector of PnWB from other species of phytoplasma can trigger the proteasomal degradation of several MADS box transcription factors, resulting in leafy flower formation. In contrast, the flowering negative regulator gene SHORT VEGETATIVE PHASE (SVP) was up-regulated in PnWB-infected C. roseus plants, but most microRNA (miRNA) genes had repressed expression. Coincidentally, transgenic Arabidopsis (Arabidopsis thaliana) plants expressing the PHYL1 gene of PnWB (PHYL1 plants), which show leafy flower phenotypes, up-regulate SVP of Arabidopsis (AtSVP) but repress a putative regulatory miRNA of AtSVP, miR396. However, the mechanism by which PHYL1 regulates AtSVP and miR396 is unknown, and the evidence of miR396-mediated AtSVP degradation is lacking. Here, we show that miR396 triggers AtSVP messenger RNA (mRNA) decay using genetic approaches, a reporter assay, and high-throughput degradome profiles. Genetic evidence indicates that PHYL1 plants and atmir396a-1 mutants have higher AtSVP accumulation, whereas the transgenic plants overexpressing MIR396 display lower AtSVP expression. The reporter assay indicated that target-site mutation results in decreasing the miR396-mediated repression efficiency. Moreover, degradome profiles revealed that miR396 triggers AtSVP mRNA decay rather than miRNA-mediated cleavage, implying that AtSVP caused miR396-mediated translation inhibition. We hypothesize that PHYL1 directly or indirectly interferes with miR396-mediated AtSVP mRNA decay and synergizes with other effects (e.g. MADS box transcription factor degradation), resulting in abnormal flower formation. We anticipate our findings to be a starting point for studying the posttranscriptional regulation of PHYL1 effectors in symptom development.

  14. MicroRNA396-Targeted SHORT VEGETATIVE PHASE Is Required to Repress Flowering and Is Related to the Development of Abnormal Flower Symptoms by the Phyllody Symptoms1 Effector1

    PubMed Central

    Yang, Chiao-Yin; Huang, Yu-Hsin; Lin, Chan-Pin; Lin, Yen-Yu; Hsu, Hao-Chun; Wang, Chun-Neng; Liu, Li-Yu Daisy; Shen, Bing-Nan; Lin, Shih-Shun

    2015-01-01

    Leafy flowers are the major symptoms of peanut witches’ broom (PnWB) phytoplasma infection in Catharanthus roseus. The orthologs of the phyllody symptoms1 (PHYL1) effector of PnWB from other species of phytoplasma can trigger the proteasomal degradation of several MADS box transcription factors, resulting in leafy flower formation. In contrast, the flowering negative regulator gene SHORT VEGETATIVE PHASE (SVP) was up-regulated in PnWB-infected C. roseus plants, but most microRNA (miRNA) genes had repressed expression. Coincidentally, transgenic Arabidopsis (Arabidopsis thaliana) plants expressing the PHYL1 gene of PnWB (PHYL1 plants), which show leafy flower phenotypes, up-regulate SVP of Arabidopsis (AtSVP) but repress a putative regulatory miRNA of AtSVP, miR396. However, the mechanism by which PHYL1 regulates AtSVP and miR396 is unknown, and the evidence of miR396-mediated AtSVP degradation is lacking. Here, we show that miR396 triggers AtSVP messenger RNA (mRNA) decay using genetic approaches, a reporter assay, and high-throughput degradome profiles. Genetic evidence indicates that PHYL1 plants and atmir396a-1 mutants have higher AtSVP accumulation, whereas the transgenic plants overexpressing MIR396 display lower AtSVP expression. The reporter assay indicated that target-site mutation results in decreasing the miR396-mediated repression efficiency. Moreover, degradome profiles revealed that miR396 triggers AtSVP mRNA decay rather than miRNA-mediated cleavage, implying that AtSVP caused miR396-mediated translation inhibition. We hypothesize that PHYL1 directly or indirectly interferes with miR396-mediated AtSVP mRNA decay and synergizes with other effects (e.g. MADS box transcription factor degradation), resulting in abnormal flower formation. We anticipate our findings to be a starting point for studying the posttranscriptional regulation of PHYL1 effectors in symptom development. PMID:26103992

  15. 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

  16. 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

  17. 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

  18. Tooth - abnormal shape

    MedlinePlus

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... The appearance of normal teeth varies, especially the molars. ... conditions. Specific diseases can affect tooth shape, tooth ...

  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. Structurally abnormal human autosomes

    SciTech Connect

    1993-12-31

    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  7. 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.

  8. 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.

  9. Morphological abnormalities among lampreys

    USGS Publications Warehouse

    Manion, Patrick J.

    1967-01-01

    The experimental control of the sea lamprey (Petromyzon marinus) in the Great Lakes has required the collection of thousands of lampreys. Representatives of each life stage of the four species of the Lake Superior basin were examined for structural abnormalities. The most common aberration was the presence of additional tails. The accessory tails were always postanal and smaller than the normal tail. The point of origin varied; the extra tails occurred on dorsal, ventral, or lateral surfaces. Some of the extra tails were misshaped and curled, but others were normal in shape and pigment pattern. Other abnormalities in larval sea lampreys were malformed or twisted tails and bodies. The cause of the structural abnormalities is unknown. The presence of extra caudal fins could be genetically controlled, or be due to partial amputation or injury followed by abnormal regeneration. Few if any lampreys with structural abnormalities live to sexual maturity.

  10. 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

  11. Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report

    PubMed Central

    2013-01-01

    Background Fanconi’s anemia (FA) is an inherited bone marrow failure syndrome that carries a higher risk of transformation to acute myeloid leukemia (AML) when compared with general population. AML is the initial presentation in approximately one third of patients. Case presentation A 17 year old male presented to the emergency room with history of high grade fever since two weeks. Examination revealed pallor, short stature and thumb polydactyly. There was no visceromegaly or lymphadenopathy. Complete blood count showed haemoglobin 3.4 gm/dl, MCV 100 fl and MCH 36 pg, white blood cell count 55.9 × 10 E9/L and platelet count 8 × 10E9/L. Peripheral blood smear revealed 26% blast cells. Bone marrow was hypercellular exhibiting infiltration with 21% blast cells. Auer rods were seen in few blast cells. These findings were consistent with acute myelomonocytic leukemia. These blasts cells expressed CD33, CD13, HLA-DR, CD117, CD34 antigens and cytoplasmic myeloperoxidase on immunophenotyping. Bone marrow cytogenetics revealed 46, XY, t (8:21) (q22; q22) [11] / 46, XY, add (2) (q37), t (8; 21) [4] / 46, XY [5]. Molecular studies showed positivity of FLT 3 D835 variant and negativity of NPM 1 and FLT3 ITD (internal tandem domain) mutation. Peripheral blood analysis for chromosomal breakage exhibited tri-radial and complex figures. He received induction chemotherapy with cytarabine and daunorubicin (3 + 7). Day 14 marrow revealed clearance of blast cells. Conclusion The recognition of specific cytogenetic abnormalities present in FA known to predispose to AML is crucial for early haematopoietic stem cell transplant (HSCT) before transformation to leukemia. PMID:23937881

  12. 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.

  13. Abnormal uterine bleeding.

    PubMed

    Jennings, J C

    1995-11-01

    Physicians who care for female patients cannot avoid the frequent complaint of abnormal uterine bleeding. Knowledge of the disorders that cause this problem can prevent serious consequences in many patients and improve the quality of life for many others. The availability of noninvasive and minimally invasive diagnostic studies and minimally invasive surgical treatment has revolutionized management of abnormal uterine bleeding. Similar to any other disorder, the extent to which a physician manages abnormal uterine bleeding depends on his or her own level of comfort. When limitations of either diagnostic or therapeutic capability are encountered, consultation and referral should be used to the best interest of patients.

  14. "Jeopardy" in Abnormal Psychology.

    ERIC Educational Resources Information Center

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  15. Abnormal Uterine Bleeding

    MedlinePlus

    ... Abnormal uterine bleeding is any bleeding from the uterus (through your vagina) other than your normal monthly ... or fibroids (small and large growths) in the uterus can also cause bleeding. Rarely, a thyroid problem, ...

  16. Abnormal Uterine Bleeding FAQ

    MedlinePlus

    ... as cancer of the uterus, cervix, or vagina • Polycystic ovary syndrome How is abnormal bleeding diagnosed? Your health care ... before the fetus can survive outside the uterus. Polycystic Ovary Syndrome: A condition characterized by two of the following ...

  17. 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.

  18. 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

  19. 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

  20. 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

  1. A Case of ADHD and a Major Y Chromosome Abnormality

    ERIC Educational Resources Information Center

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  2. Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease.

    PubMed

    Downey, Charlene M; Horton, Chelsea R; Carlson, Bradley A; Parsons, Trish E; Hatfield, Dolph L; Hallgrímsson, Benedikt; Jirik, Frank R

    2009-08-01

    Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in drinking water, and, importantly, deficiency of selenium. This multifunctional trace element, in the form of selenocysteine, is essential for normal selenoprotein function, including attenuation of excessive oxidative stress, and for the control of redox-sensitive molecules involved in cell growth and differentiation. To investigate the effects of skeletal selenoprotein deficiency, a Cre recombinase transgenic mouse line was used to trigger Trsp gene deletions in osteo-chondroprogenitors. Trsp encodes selenocysteine tRNA([Ser]Sec), required for the incorporation of selenocysteine residues into selenoproteins. The mutant mice exhibited growth retardation, epiphyseal growth plate abnormalities, and delayed skeletal ossification, as well as marked chondronecrosis of articular, auricular, and tracheal cartilages. Phenotypically, the mice thus replicated a number of the pathological features of Kashin-Beck disease, supporting the notion that selenium deficiency is important to the development of this syndrome. PMID:19696890

  3. Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

    PubMed

    Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K H; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M; Hrabě de Angelis, Martin; Lorenz-Depiereux, Bettina

    2016-04-01

    We performed exome sequencing for mutation discovery of an ENU (N-ethyl-N-nitrosourea)-derived mouse model characterized by significant elevated plasma alkaline phosphatase (ALP) activities in female and male mutant mice, originally named BAP014 (bone screen alkaline phosphatase #14). We identified a novel loss-of-function mutation within the Fam46a (family with sequence similarity 46, member A) gene (NM_001160378.1:c.469G>T, NP_001153850.1:p.Glu157*). Heterozygous mice of this mouse line (renamed Fam46a (E157*Mhda)) had significantly high ALP activities and apparently no other differences in morphology compared to wild-type mice. In contrast, homozygous Fam46a (E157*Mhda) mice showed severe morphological and skeletal abnormalities including short stature along with limb, rib, pelvis, and skull deformities with minimal trabecular bone and reduced cortical bone thickness in long bones. ALP activities of homozygous mutants were almost two-fold higher than in heterozygous mice. Fam46a is weakly expressed in most adult and embryonic tissues with a strong expression in mineralized tissues as calvaria and femur. The FAM46A protein is computationally predicted as a new member of the superfamily of nucleotidyltransferase fold proteins, but little is known about its function. Fam46a (E157*Mhda) mice are the first mouse model for a mutation within the Fam46a gene. PMID:26803617

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. 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)

  9. 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

  10. 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

  11. Morphological abnormalities in elasmobranchs.

    PubMed

    Moore, A B M

    2015-08-01

    A total of 10 abnormal free-swimming (i.e., post-birth) elasmobranchs are reported from The (Persian-Arabian) Gulf, encompassing five species and including deformed heads, snouts, caudal fins and claspers. The complete absence of pelvic fins in a milk shark Rhizoprionodon acutus may be the first record in any elasmobranch. Possible causes, including the extreme environmental conditions and the high level of anthropogenic pollution particular to The Gulf, are briefly discussed.

  12. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  13. 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…

  14. 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.

  15. Abnormal pressures as hydrodynamic phenomena

    USGS Publications Warehouse

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  16. 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

  17. Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.

    ERIC Educational Resources Information Center

    Fernald, Charles D.

    1980-01-01

    Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

  18. Abnormal human sex chromosome constitutions

    SciTech Connect

    1993-12-31

    Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.

  19. Exercises to Improve Gait Abnormalities

    MedlinePlus

    ... Home About iChip Articles Directories Videos Resources Contact Exercises to Improve Gait Abnormalities Home » Article Categories » Exercise and Fitness Font Size: A A A A Exercises to Improve Gait Abnormalities Next Page The manner ...

  20. Abnormal ionization in sonoluminescence

    NASA Astrophysics Data System (ADS)

    Zhang, Wen-Juan; An, Yu

    2015-04-01

    Sonoluminescence is a complex phenomenon, the mechanism of which remains unclear. The present study reveals that an abnormal ionization process is likely to be present in the sonoluminescing bubble. To fit the experimental data of previous studies, we assume that the ionization energies of the molecules and atoms in the bubble decrease as the gas density increases and that the decrease of the ionization energy reaches about 60%-70% as the bubble flashes, which is difficult to explain by using previous models. Project supported by the Research Fund for the Doctoral Program of Higher Education of China (Grant No. 20120002110031) and the National Natural Science Foundation of China (Grant No. 11334005).

  1. Abnormal hematological indices in cirrhosis

    PubMed Central

    Qamar, Amir A; Grace, Norman D

    2009-01-01

    Abnormalities in hematological indices are frequently encountered in cirrhosis. Multiple causes contribute to the occurrence of hematological abnormalities. Recent studies suggest that the presence of hematological cytopenias is associated with a poor prognosis in cirrhosis. The present article reviews the pathogenesis, incidence, prevalence, clinical significance and treatment of abnormal hematological indices in cirrhosis. PMID:19543577

  2. 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

  3. Spirometric abnormalities among welders

    SciTech Connect

    Rastogi, S.K.; Gupta, B.N.; Husain, T.; Mathur, N.; Srivastava, S. )

    1991-10-01

    A group of manual welders age group 13-60 years having a mean exposure period of 12.4 {plus minus} 1.12 years were subjected to spirometry to evaluate the prevalence of spirometric abnormalities. The welders showed a significantly higher prevalence of respiratory impairment than that observed among the unexposed controls as a result of exposure to welding gases which comprised fine particles of lead, zinc, chromium, and manganese. This occurred despite the lower concentration of the pollutants at the work place. In the expose group, the smoking welders showed a prevalence of respiratory impairment significantly higher than that observed in the nonsmoking welders. The results of the pulmonary function tests showed a predominantly restrictive type of pulmonary impairment followed by a mixed ventilatory defect among the welders. The effect of age on pulmonary impairment was not discernible. Welders exposed for over 10 years showed a prevalence of respiratory abnormalities significantly higher than those exposed for less than 10 years. Smoking also had a contributory role.

  4. 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

  5. Craniofacial abnormalities among patients with Edwards Syndrome

    PubMed Central

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  6. A Rare Stapes Abnormality

    PubMed Central

    Kanona, Hala; Virk, Jagdeep Singh; Kumar, Gaurav; Chawda, Sanjiv; Khalil, Sherif

    2015-01-01

    The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively. PMID:25628909

  7. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

    PubMed

    Baumgartner, M R; Jansen, G A; Verhoeven, N M; Mooyer, P A; Jakobs, C; Roels, F; Espeel, M; Fourmaintraux, A; Bellet, H; Wanders, R J; Saudubray, J M

    2000-01-01

    We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. Ictal Cardiac Ryhthym Abnormalities

    PubMed Central

    Ali, Rushna

    2016-01-01

    Cardiac rhythm abnormalities in the context of epilepsy are a well-known phenomenon. However, they are under-recognized and often missed. The pathophysiology of these events is unclear. Bradycardia and asystole are preceded by seizure onset suggesting ictal propagation into the cortex impacting cardiac autonomic function, and the insula and amygdala being possible culprits. Sudden unexpected death in epilepsy (SUDEP) refers to the unanticipated death of a patient with epilepsy not related to status epilepticus, trauma, drowning, or suicide. Frequent refractory generalized tonic-clonic seizures, anti-epileptic polytherapy, and prolonged duration of epilepsy are some of the commonly identified risk factors for SUDEP. However, the most consistent risk factor out of these is an increased frequency of generalized tonic–clonic seizures (GTC). Prevention of SUDEP is extremely important in patients with chronic, generalized epilepsy. Since increased frequency of GTCS is the most consistently reported risk factor for SUDEP, effective seizure control is the most important preventive strategy. PMID:27347227

  1. Ictal Cardiac Ryhthym Abnormalities.

    PubMed

    Ali, Rushna

    2016-01-01

    Cardiac rhythm abnormalities in the context of epilepsy are a well-known phenomenon. However, they are under-recognized and often missed. The pathophysiology of these events is unclear. Bradycardia and asystole are preceded by seizure onset suggesting ictal propagation into the cortex impacting cardiac autonomic function, and the insula and amygdala being possible culprits. Sudden unexpected death in epilepsy (SUDEP) refers to the unanticipated death of a patient with epilepsy not related to status epilepticus, trauma, drowning, or suicide. Frequent refractory generalized tonic-clonic seizures, anti-epileptic polytherapy, and prolonged duration of epilepsy are some of the commonly identified risk factors for SUDEP. However, the most consistent risk factor out of these is an increased frequency of generalized tonic-clonic seizures (GTC). Prevention of SUDEP is extremely important in patients with chronic, generalized epilepsy. Since increased frequency of GTCS is the most consistently reported risk factor for SUDEP, effective seizure control is the most important preventive strategy. PMID:27347227

  2. Communication and abnormal behaviour.

    PubMed

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  3. Communication and abnormal behaviour.

    PubMed

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential). PMID:261653

  4. Abnormal uterine bleeding.

    PubMed

    Whitaker, Lucy; Critchley, Hilary O D

    2016-07-01

    Abnormal uterine bleeding (AUB) is a common and debilitating condition with high direct and indirect costs. AUB frequently co-exists with fibroids, but the relationship between the two remains incompletely understood and in many women the identification of fibroids may be incidental to a menstrual bleeding complaint. A structured approach for establishing the cause using the Fédération International de Gynécologie et d'Obstétrique (FIGO) PALM-COEIN (Polyp, Adenomyosis, Leiomyoma, Malignancy (and hyperplasia), Coagulopathy, Ovulatory disorders, Endometrial, Iatrogenic and Not otherwise classified) classification system will facilitate accurate diagnosis and inform treatment options. Office hysteroscopy and increasing sophisticated imaging will assist provision of robust evidence for the underlying cause. Increased availability of medical options has expanded the choice for women and many will no longer need to recourse to potentially complicated surgery. Treatment must remain individualised and encompass the impact of pressure symptoms, desire for retention of fertility and contraceptive needs, as well as address the management of AUB in order to achieve improved quality of life. PMID:26803558

  5. Abortion for fetal abnormality.

    PubMed

    Maclean, N E

    1979-07-25

    I wish to thank Dr. Pauline Bennett for her reply (NZ Med J, 13 June). She has demonstrated well that in dealing with sensitive difficult issues such as abortion for fetal abnormality, the one thing the doctor is not recommended to do is to speak the truth] I am prompted to write this letter for 2 reasons. Firstly, the excellent letter written by Dr. A. M. Rutherford (NZ Med J, 13 June) on the subject of abortion stated, "The most disturbing feature about the whole controversy is the 'blunting of our conscience'." When the doctors are not encouraged to be honest with patients then indeed our conscience has been blunted. Secondly, I watched Holocaust last night, and cannot refrain from stating that I see frightening parallels between our liberal abortion policy and the activities of the Nazis. As I watched the "mental patients" being herded into the shed for gassing by the polite, tidy, white coated medical staff, and then heard the compassionate, sensitive, letter of the hospital authorities to the relatives of the deceased, the parallel became obvious. The mental patients were weak, defenseless, burdensome, and uneconomic; the unborn are weak, defenseless, burdensome, and uneconomic. The hospital authority's letter was acceptable in many ways, acceptable except that its words bore no relation to the truth. It is said that the "first casualty of war is the truth". Whether that war involves the Jews, or the insane, or the unborn, the statement would seem correct.

  6. Haem degradation in abnormal haemoglobins.

    PubMed Central

    Brown, S B; Docherty, J C

    1978-01-01

    The coupled oxidation of certain abnormal haemoglobins leads to different bile-pigment isomer distributions from that of normal haemoglobin. The isomer pattern may be correlated with the structure of the abnormal haemoglobin in the neighbourhood of the haem pocket. This is support for haem degradation by an intramolecular reaction. PMID:708385

  7. Systemic abnormalities in liver disease

    PubMed Central

    Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro

    2009-01-01

    Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases. PMID:19554648

  8. Abnormal pressure in hydrocarbon environments

    USGS Publications Warehouse

    Law, B.E.; Spencer, C.W.

    1998-01-01

    Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

  9. Electrocardiograph abnormalities revealed during laparoscopy.

    PubMed

    Nijjer, Sukhjinder; Dubrey, Simon William

    2010-01-01

    This brief case presents a well patient in whom an electrocardiograph abnormality consistent with an accessory pathway was found during a routine procedure. We present the electrocardiographs, explain the underlying condition, and consider why the abnormality was revealed in this manner.

  10. 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

  11. 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

  12. 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

  13. 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

  14. Chromosomal abnormalities in human sperm

    SciTech Connect

    Martin, R.H.

    1985-01-01

    The ability to analyze human sperm chromosome complements after penetration of zona pellucida-free hamster eggs provides the first opportunity to study the frequency and type of chromosomal abnormalities in human gametes. Two large-scale studies have provided information on normal men. We have studied 1,426 sperm complements from 45 normal men and found an abnormality rate of 8.9%. Brandriff et al. (5) found 8.1% abnormal complements in 909 sperm from 4 men. The distribution of numerical and structural abnormalities was markedly dissimilar in the 2 studies. The frequency of aneuploidy was 5% in our sample and only 1.6% in Brandriff's, perhaps reflecting individual variability among donors. The frequency of 24,YY sperm was low: 0/1,426 and 1/909. This suggests that the estimates of nondisjunction based on fluorescent Y body data (1% to 5%) are not accurate. We have also studied men at increased risk of sperm chromosomal abnormalities. The frequency of chromosomally unbalanced sperm in 6 men heterozygous for structural abnormalities varied dramatically: 77% for t11;22, 32% for t6;14, 19% for t5;18, 13% for t14;21, and 0% for inv 3 and 7. We have also studied 13 cancer patients before and after radiotherapy and demonstrated a significant dose-dependent increase of sperm chromosome abnormalities (numerical and structural) 36 months after radiation treatment.

  15. 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

  16. 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.

  17. Kidney transplantation in abnormal bladder

    PubMed Central

    Mishra, Shashi K.; Muthu, V.; Rajapurkar, Mohan M.; Desai, Mahesh R.

    2007-01-01

    Structural urologic abnormalities resulting in dysfunctional lower urinary tract leading to end stage renal disease may constitute 15% patients in the adult population and up to 20-30% in the pediatric population. A patient with an abnormal bladder, who is approaching end stage renal disease, needs careful evaluation of the lower urinary tract to plan the most satisfactory technical approach to the transplant procedure. Past experience of different authors can give an insight into the management and outcome of these patients. This review revisits the current literature available on transplantation in abnormal bladder and summarizes the clinical approach towards handling this group of difficult transplant patients. We add on our experience as we discuss the various issues. The outcome of renal transplant in abnormal bladder is not adversely affected when done in a reconstructed bladder. Correct preoperative evaluation, certain technical modification during transplant and postoperative care is mandatory to avoid complications. Knowledge of the abnormal bladder should allow successful transplantation with good outcome. PMID:19718334

  18. Complex patterns of abnormal heartbeats

    NASA Technical Reports Server (NTRS)

    Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon

    2002-01-01

    Individuals having frequent abnormal heartbeats interspersed with normal heartbeats may be at an increased risk of sudden cardiac death. However, mechanistic understanding of such cardiac arrhythmias is limited. We present a visual and qualitative method to display statistical properties of abnormal heartbeats. We introduce dynamical "heartprints" which reveal characteristic patterns in long clinical records encompassing approximately 10(5) heartbeats and may provide information about underlying mechanisms. We test if these dynamics can be reproduced by model simulations in which abnormal heartbeats are generated (i) randomly, (ii) at a fixed time interval following a preceding normal heartbeat, or (iii) by an independent oscillator that may or may not interact with the normal heartbeat. We compare the results of these three models and test their limitations to comprehensively simulate the statistical features of selected clinical records. This work introduces methods that can be used to test mathematical models of arrhythmogenesis and to develop a new understanding of underlying electrophysiologic mechanisms of cardiac arrhythmia.

  19. Karyotypic abnormalities in tumours of the pancreas.

    PubMed Central

    Bardi, G.; Johansson, B.; Pandis, N.; Mandahl, N.; Bak-Jensen, E.; Andrén-Sandberg, A.; Mitelman, F.; Heim, S.

    1993-01-01

    Short-term cultures from 20 pancreatic tumours, three endocrine and 17 exocrine, were cytogenetically analysed. All three endocrine tumours had a normal chromosome complement. Clonal chromosome aberrations were detected in 13 of the 17 exocrine tumours: simple karyotypic changes were found in five carcinomas and numerous numerical and/or structural changes in eight. When the present findings and those previously reported by our group were viewed in conjunction, the most common numerical imbalances among the 22 karyotypically abnormal pancreatic carcinomas thus available for evaluation turned out to be, in order of falling frequency, -18, -Y, +20, +7, +11 and -12. Imbalances brought about by structural changes most frequently affected chromosomes 1 (losses in 1p but especially gains of 1q), 8 (in particular 8q gains but also 8p losses), and 17 (mostly 17q gain but also loss of 17p). Chromosomal bands 1p32, 1q10, 6q21, 7p22, 8p21, 8q11, 14p11, 15q10-11, and 17q11 were the most common breakpoint sites affected by the structural rearrangements. Abnormal karyotypes were detected more frequently in poorly differentiated and anaplastic carcinomas than in moderately and well differentiated tumours. Images Figure 1 PMID:8494707

  20. [Emotion Disorders and Abnormal Perspiration].

    PubMed

    Umeda, Satoshi

    2016-08-01

    This article reviewed the relationship between emotional disorders and abnormal perspiration. First, I focused on local brain areas related to emotional processing, and summarized the functions of the emotional network involving those local areas. Functional disorders followed by the damage in the amygdala, orbitofrontal cortex, and insular cortex were reviewed, including related abnormal perspiration. I then addressed the mechanisms of how autonomic disorders influence emotional processing. Finally, possible future directions for integrated understanding of the connection between neural activities and bodily reactions were discussed. PMID:27503817

  1. [Emotion Disorders and Abnormal Perspiration].

    PubMed

    Umeda, Satoshi

    2016-08-01

    This article reviewed the relationship between emotional disorders and abnormal perspiration. First, I focused on local brain areas related to emotional processing, and summarized the functions of the emotional network involving those local areas. Functional disorders followed by the damage in the amygdala, orbitofrontal cortex, and insular cortex were reviewed, including related abnormal perspiration. I then addressed the mechanisms of how autonomic disorders influence emotional processing. Finally, possible future directions for integrated understanding of the connection between neural activities and bodily reactions were discussed.

  2. Electrocardiograph abnormalities in intracerebral hemorrhage.

    PubMed

    Takeuchi, Satoru; Nagatani, Kimihiro; Otani, Naoki; Wada, Kojiro; Mori, Kentaro

    2015-12-01

    This study investigated the prevalence and type of electrocardiography (ECG) abnormalities, and their possible association with the clinical/radiological findings in 118 consecutive patients with non-traumatic, non-neoplastic intracerebral hemorrhage (ICH). ECG frequently demonstrates abnormalities in patients with ischemic stroke and subarachnoid hemorrhage, but little is known of ECG changes in ICH patients. Clinical and radiological information was retrospectively reviewed. ECG recordings that were obtained within 24 hours of the initial hemorrhage were analyzed. Sixty-six patients (56%) had one or more ECG abnormalities. The most frequent was ST depression (24%), followed by left ventricular hypertrophy (20%), corrected QT interval (QTc) prolongation (19%), and T wave inversion (19%). The logistic regression analysis demonstrated the following: insular involvement was an independent predictive factor of ST depression (p<0.001; odds ratio OR 10.18; 95% confidence interval [CI] 2.84-36.57); insular involvement (p<0.001; OR 23.98; 95% CI 4.91-117.11) and presence of intraventricular hemorrhage (p<0.001; OR 8.72; 95% CI 2.69-28.29) were independent predictive factors of QTc prolongation; deep hematoma location (p<0.001; OR 19.12; 95% CI 3.82-95.81) and hematoma volume >30 ml (p=0.001; OR 6.58; 95% CI 2.11-20.46) were independent predictive factors of T wave inversion. We demonstrate associations between ECG abnormalities and detailed characteristics of ICH.

  3. Postoperative chronic pressure abnormalities in the vitreon study.

    PubMed

    Adile, S L; Peyman, G A; Greve, M D; Millsap, C M; Verma, L K; Wafapoor, H; Soheilian, M

    1994-01-01

    Perfluoroperhydrophenanthrene (Vitreon) was used as an intraoperative hydrokinetic retinal manipulator, followed by C3F8 or SF6 gases, silicone oil, or Vitreon as postoperative tamponading agents in 234 eyes. Two chronic intraoperative pressure abnormalities were defined: hypotony (5 mm Hg or less) and elevated intraocular pressure (IOP) (25 mm Hg or more at three or more postoperative visits). Postoperatively, 28 eyes (12%) had chronically elevated IOP, and 41 (18%) had chronic hypotony. There was no significant difference in the incidence of abnormal IOP among the groups of eyes in which the various tamponading agents had been used. In particular, the use of Vitreon as an intraoperative tool or as a short-term tamponade did not affect the incidence of chronic abnormal IOP any more than did the use of silicone oil, C3F8, or SF6 as tamponading agents.

  4. Postoperative chronic pressure abnormalities in the vitreon study.

    PubMed

    Adile, S L; Peyman, G A; Greve, M D; Millsap, C M; Verma, L K; Wafapoor, H; Soheilian, M

    1994-01-01

    Perfluoroperhydrophenanthrene (Vitreon) was used as an intraoperative hydrokinetic retinal manipulator, followed by C3F8 or SF6 gases, silicone oil, or Vitreon as postoperative tamponading agents in 234 eyes. Two chronic intraoperative pressure abnormalities were defined: hypotony (5 mm Hg or less) and elevated intraocular pressure (IOP) (25 mm Hg or more at three or more postoperative visits). Postoperatively, 28 eyes (12%) had chronically elevated IOP, and 41 (18%) had chronic hypotony. There was no significant difference in the incidence of abnormal IOP among the groups of eyes in which the various tamponading agents had been used. In particular, the use of Vitreon as an intraoperative tool or as a short-term tamponade did not affect the incidence of chronic abnormal IOP any more than did the use of silicone oil, C3F8, or SF6 as tamponading agents. PMID:7830998

  5. [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

  6. 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.

  7. [Transient abnormal Q-waves].

    PubMed

    Godballe, C; Hoeck, H C; Sørensen, J A

    1990-01-01

    We present a case of transient abnormal Q-waves (TAQ) and a review of the literature. TAQ are defined as abnormal Q-waves, which disappear within ten days. They are most often seen in patients with ischemic heart disease (IHD) but are also seen in other conditions. Brief episodes of myocardial ischemia giving rise to reversible biochemical and ultrastructural myocardial changes, resulting in transient ECG changes, provide an accepted theory for the pathogenesis of TAO. Investigations have shown that the occurrence of exercise-induced TAQ may be a symptom of IHD. It is impossible to distinguish TAQ from Q-waves induced by myocardial infarction. Appearance of TAQ during exercise-testing frequently indicates IHD. PMID:2301045

  8. [Chromosome abnormalities in human cancer].

    PubMed

    Salamanca-Gómez, F

    1995-01-01

    Recent investigation on the presence of chromosome abnormalities in neoplasias has allowed outstanding advances in the knowledge of malignant transformation mechanisms and important applications in the clinical diagnosis and prognosis of leukaemias, lymphomas and solid tumors. The purpose of the present paper is to discuss the most relevant cytogenetic aberrations, some of them described at the Unidad de Investigación Médica en Genética Humana, Instituto Mexicano del Seguro Social, and to correlate these abnormalities with recent achievements in the knowledge of oncogenes, suppressor genes or antioncogenes, their chromosome localization, and their mutations in human neoplasia; as well as their perspectives in prevention and treatment of cancer that such findings permit to anticipate.

  9. Ultrasound screening for fetal abnormalities.

    PubMed

    Chitty, L S

    1995-12-01

    Ultrasound screening for fetal abnormalities is increasingly becoming part of routine antenatal care in Europe and the UK. However, there has been very little formal evaluation of this practice. In this article reports of routine ultrasound screening are reviewed and the advantages and disadvantages discussed. The majority of routine anomaly scanning is done in the second trimester but there may be a case for screening at other times in pregnancy and alternative anomaly screening policies are discussed. PMID:8710765

  10. [Endocrine abnormalities in HIV infections].

    PubMed

    Verges, B; Chavanet, P; Desgres, J; Kisterman, J P; Waldner, A; Vaillant, G; Portier, H; Brun, J M; Putelat, R

    The finding of endocrine gland lesions at pathological examination in AIDS and reports of several cases of endocrine disease in patients with this syndrome have prompted us to study endocrine functions in 63 patients (51 men, 12 women) with HIV-1 infection. According to the Center for Disease Control (CDC) classification system, 13 of these patients were stage CDC II, 27 stage CDC III and 23 stage CDC IV. We explored the adrenocortical function (ACTH, immediate tetracosactrin test) and the thyroid function (free T3 and T4 levels, TRH on TSH test) in all 63 patients. The hypothalamic-pituitary-gonadal axis (testosterone levels, LHRH test) and prolactin secretion (THR test) were explored in the 51 men. The results obtained showed early peripheral testicular insufficiency at stage CDC II and early pituitary gland abnormalities with hypersecretion of ACTH and prolactin also at stage CDC II. On the other hand, adrenocortical and pituitary abnormalities were not frequently found. The physiopathology of the endocrine abnormalities observed in HIV-1-infected patients remains unclear, but one may suspect that it involves interleukin-1 since this protein factor has recently been shown to stimulate the corticotropin-releasing hormone secretion and to act directly on the glycoprotein capsule of the virus (gp 120) whose structure is similar to that of some neurohormones.

  11. 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.

  12. Making chromosome abnormalities treatable conditions.

    PubMed

    Cody, Jannine DeMars; Hale, Daniel Esten

    2015-09-01

    Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions.

  13. [Erythrocyte membrane abnormalities - hereditary elliptocytosis].

    PubMed

    Kvezereli-Kopadze, M; Kvezereli-Kopadze, A; Mtvarelidze, Z; Bubuteishvili, A

    2015-04-01

    This study was designed to investigate the 4 year old boy with Hereditary Elliptocitosis (HE). The diagnosis of this rare hemolytic anemia was based on detailed family history (positive in the 4-th generation), physical examination and Para-clinical data analyses. The vast majority of patients with HE are asymptomatic, severe forms are rare. The most important is examination of blood films, which is helpful to detect the morphology abnormalities of red cells. In case of HE a different approach is required. Positive family history and series of investigations should be conducted to determine the HE.

  14. Abnormalities of the erythrocyte membrane.

    PubMed

    Gallagher, Patrick G

    2013-12-01

    Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Growing recognition of the long-term risks of splenectomy has led to re-evaluation of the role of splenectomy. Management guidelines acknowledge these considerations and recommend discussion between health care providers, patient, and family. The hereditary elliptocytosis syndromes are the most common primary disorders of erythrocyte membrane proteins. However, most elliptocytosis patients are asymptomatic and do not require therapy.

  15. Foot abnormalities of wild birds

    USGS Publications Warehouse

    Herman, C.M.; Locke, L.N.; Clark, G.M.

    1962-01-01

    The various foot abnormalities that occur in birds, including pox, scaly-leg, bumble-foot, ergotism and freezing are reviewed. In addition, our findings at the Patuxent Wildlife Research Center include pox from dove, mockingbird, cowbird, grackle and several species of sparrows. Scaly-leg has been particularly prevalent on icterids. Bumble foot has been observed in a whistling swan and in a group of captive woodcock. Ergotism is reported from a series of captive Canada geese from North Dakota. Several drug treatments recommended by others are presented.

  16. Encephalopathy and vestibulopathy following short-term hydrocarbon exposure.

    PubMed

    Hodgson, M J; Furman, J; Ryan, C; Durrant, J; Kern, E

    1989-01-01

    Dizziness, headaches, and weakness occurred among three men after short-term hydrocarbon exposure during improper welding procedures in a closed container. Symptoms were related to objective evidence of vestibular and cognitive dysfunction. Symptoms and abnormal test results persisted for 6 to 18 months. Simulation of the accident failed to demonstrate likely exposures except aliphatic hydrocarbons, well within the permissible exposure levels. Short-term exposures to neurotoxins may lead to long-term central nervous system abnormalities.

  17. Encephalopathy and vestibulopathy following short-term hydrocarbon exposure

    SciTech Connect

    Hodgson, M.J.; Furman, J.; Ryan, C.; Durrant, J.; Kern, E.

    1989-01-01

    Dizziness, headaches, and weakness occurred among three men after short-term hydrocarbon exposure during improper welding procedures in a closed container. Symptoms were related to objective evidence of vestibular and cognitive dysfunction. Symptoms and abnormal test results persisted for 6 to 18 months. Simulation of the accident failed to demonstrate likely exposures except aliphatic hydrocarbons, well within the permissible exposure levels. Short-term exposures to neurotoxins may lead to long-term central nervous system abnormalities.

  18. Medical management of abnormal pregnancy.

    PubMed

    Ratnam, S S; Prasad, R N

    1990-06-01

    Medical termination of abnormal pregnancy requires specific techniques since some conditions make therapy more effective, e.g., missed abortion intrauterine death and molar pregnancy, and others less so, e.g. anencephalic pregnancy. In all cases it is best to terminate the pregnancy as soon as possible to reduce anguish and risks of complications such as consumptive coagulopathy. Oxytocin is not consistently effective, but intraamniotic rivanol has oxytocic properties, and prostaglandins (PGs) are effective by several routes. Surgical methods are more popular in Japan and the US. A diagnostic flow chart is included and described. For missed abortion and fetal death vacuum aspiration or dilatation and evacuation are appropriate for early pregnancy, or PGs are used for later pregnancy, unless there are medical contraindications. Anencephalic pregnancy, usually diagnoses in 2nd or 3rd trimester, is resistant to medical therapy and must often be terminated by cesarean section. Molar pregnancy can be managed with vacuum aspiration at any length of gestation, but must be completed by curettage. Intraamniotic PGs are not advised for mole or fetal death. PG analogs can be administered intramuscularly, or vaginally in gel form. Other types of abnormal pregnancy that can be managed with PGs are spina bifida, hydrocephalus, hydrops fetalis, Dandy-Walker syndrome and Down's syndrome. Tubal pregnancy can be evacuated with intratubally administered PGs under laparoscopic control, thereby preserving tubal integrity. PMID:2225605

  19. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    MedlinePlus

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  20. Genetics Home Reference: metatropic dysplasia

    MedlinePlus

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  1. Genetics Home Reference: Peters plus syndrome

    MedlinePlus

    ... abnormalities, short stature, an opening in the lip ( cleft lip ) with or without an opening in the roof ... neck may also be broad and webbed. A cleft lip with or without a cleft palate is present ...

  2. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

    PubMed Central

    Byers, P H; Siegel, R C; Peterson, K E; Rowe, D W; Holbrook, K A; Smith, L T; Chang, Y H; Fu, J C

    1981-01-01

    Cells in culture from a woman with a variety of the Marfan syndrome produce two species of the alpha 2 chains of type I collagen. One alpha 2 chain appears normal; the abnormal chain has a higher apparent molecular weight than normal and migrates more slowly during electrophoresis in sodium dodecyl sulfate/polyacrylamide gels. A similar change in electrophoretic behavior is seen in the prepro alpha 2 chain and the pN alpha 2 chain (which contains the amino-terminal extension). Asymmetric cleavage of the pepsin-treated procollagens with a fibroblast collagenase locates the abnormal segment amino terminal to the cleavage site, and analysis of cyanogen bromide peptides of collagenase cleavage peptides and of whole collagens indicates that the abnormal segment is in either the alpha 2CB3 peptide or the short segment of alpha 2CB5 amino terminal to the collagenase site of the altered alpha 2 chain. The higher apparent molecular weight is consistent with the insertion of a small peptide fragment of approximately 20 amino acids. This alteration in chain size has marked effects on crosslinking because collagen from the patient's skin was 5-10 times more extractable in nondenaturing solvents than that from control skins. Although the abnormal chain was not found in several other individuals with the Marfan syndrome, these findings suggest that the phenotype may be the expression of a variety of primary structure alterations in the chains of type I collagen that interfere with normal crosslink formation. Images PMID:6950413

  3. 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

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. Adults with Chromosome 18 Abnormalities.

    PubMed

    Soileau, Bridgette; Hasi, Minire; Sebold, Courtney; Hill, Annice; O'Donnell, Louise; Hale, Daniel E; Cody, Jannine D

    2015-08-01

    The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.

  9. 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.

  10. Phenotypic abnormalities: terminology and classification.

    PubMed

    Merks, Johannes H M; van Karnebeek, Clara D M; Caron, Hubert N; Hennekam, Raoul C M

    2003-12-15

    Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [2001]; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination performed in patients, who have been treated for childhood cancer, may allow detection of concurrent patterns of anomalies and provide clues for causative genes. In the past, several studies were performed describing the prevalence of anomalies in patients with cancer. However, in most studies, it was not possible to indicate the biologic relevance of the recorded anomalies, or to judge their relative importance. Are the detected anomalies common variants, and should they thus be regarded as normal, or are they minor anomalies or true abnormalities, indicating a possible developmental cause? Classification of items in the categories of common variants (disturbances of phenogenesis with a prevalence >4%), minor anomalies (disturbances of phenogenesis with a prevalence abnormal physical findings by a nomenclature for errors of morphogenesis detectable on surface examination, and secondly a uniform classification system. This should allow investigators to evaluate systematically the presence of patterns in phenotypic anomalies, in the general population, and in patients with various disorders, suspected to be a developmental anomaly. Also

  11. Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

    PubMed

    Khor, Ee-Cheng; Fanshawe, Bruce; Qi, Yue; Zolotukhin, Sergei; Kulkarni, Rishikesh N; Enriquez, Ronaldo F; Purtell, Louise; Lee, Nicola J; Wee, Natalie K; Croucher, Peter I; Campbell, Lesley; Herzog, Herbert; Baldock, Paul A

    2016-01-01

    Prader-Willi Syndrome (PWS), a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR), including a set of small non-translated nucleolar RNA's (snoRNA). Recently, micro-deletions in humans identified the snoRNA Snord116 as a critical contributor to the development of PWS exhibiting many of the classical symptoms of PWS. Here we show that loss of the PWCR which includes Snord116 in mice leads to a reduced bone mass phenotype, similar to that observed in humans. Consistent with reduced stature in PWS, PWCR KO mice showed delayed skeletal development, with shorter femurs and vertebrae, reduced bone size and mass in both sexes. The reduction in bone mass in PWCR KO mice was associated with deficiencies in cortical bone volume and cortical mineral apposition rate, with no change in cancellous bone. Importantly, while the length difference was corrected in aged mice, consistent with continued growth in rodents, reduced cortical bone formation was still evident, indicating continued osteoblastic suppression by loss of PWCR expression in skeletally mature mice. Interestingly, deletion of this region included deletion of the exclusively brain expressed Snord116 cluster and resulted in an upregulation in expression of both NPY and POMC mRNA in the arcuate nucleus. Importantly, the selective deletion of the PWCR only in NPY expressing neurons replicated the bone phenotype of PWCR KO mice. Taken together, PWCR deletion in mice, and specifically in NPY neurons, recapitulates the short stature and low BMD and aspects of the hormonal imbalance of PWS individuals. Moreover, it demonstrates for the first time, that a region encoding non-translated RNAs, expressed solely within the brain, can regulate bone mass in health and disease

  12. Radiologic atlas of pulmonary abnormalities in children

    SciTech Connect

    Singleton, E.B.; Wagner, M.L.; Dutton, R.V.

    1988-01-01

    This book is an atlas about thoracic abnormalities in infants and children. The authors include computed tomographic, digital subtraction angiographic, ultrasonographic, and a few magnetic resonance (MR) images. They recognize and discuss how changes in the medical treatment of premature infants and the management of infection and pediatric tumors have altered some of the appearances and considerations in these diseases. Oriented toward all aspects of pulmonary abnormalities, the book starts with radiographic techniques and then discusses the normal chest, the newborn, infections, tumors, and pulmonary vascular diseases. There is comprehensive treatment of mediastinal abnormalities and a discussion of airway abnormalities.

  13. [Renal abnormalities in ankylosing spondylitis].

    PubMed

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. PMID:22520483

  14. [Renal abnormalities in ankylosing spondylitis].

    PubMed

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease.

  15. The XXXXY Sex Chromosome Abnormality

    PubMed Central

    Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Chown, B.

    1962-01-01

    The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants. Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency. That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10 PMID:13969480

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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

  2. 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.

  3. 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

  4. 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.

  5. Automatic Semantic Priming Abnormalities in Schizophrenia

    PubMed Central

    Mathalon, Daniel H.; Roach, Brian J.; Ford, Judith M.

    2014-01-01

    Abnormal activation of semantic networks characterizes schizophrenia and can be studied using the N400 event-related potential (ERP). N400 is elicited by words that are not primed by the preceding context and provides a direct measure of the neural mechanisms underlying semantic priming. Semantic priming refers to facilitated semantic processing gained through pre-exposure to semantic context, which can happen automatically if the interval between the prime and target is very short. We predicted that (1) schizophrenia patients have overly inclusive semantic networks, reflected in a less negative than expected N400 to relatively unprimed words, and (2) schizophrenia patients are deficient in their use of semantic context, responding to primed words as if they were unprimed, reflected in a more negative than expected N400 to primed words. N400s were acquired from patients with DSM-IV schizophrenia (n=26) and age-matched healthy comparison subjects (n=29) performing a picture-word verification (match vs. non-match) task. Word targets were presented 325ms after a picture prime, which either matched (CAMEL→”camel”), or did not match (In Category: CAMEL→”cow; Out Category: CAMEL→”candle”) the prime. N400 data suggest that both patients and controls are sensitive to the difference between primed and unprimed words, but patients are less sensitive than controls. Similarly, N400 data suggest that both groups were sensitive to the subtler difference between classes of unprimed words (In Category versus Out Category picture-word non-matches), but patients are less sensitive, especially those with prominent negative symptoms. PMID:19995582

  6. Immune Abnormalities in Patients with Autism.

    ERIC Educational Resources Information Center

    Warren, Reed P.; And Others

    1986-01-01

    A study of 31 autistic patients (3-28 years old) has revealed several immune-system abnormalities, including decreased numbers of T lymphocytes and an altered ratio of helper-to-suppressor T cells. Immune-system abnormalities may be directly related to underlying biologic processes of autism or an indirect reflection of the actual pathologic…

  7. An Abnormal Psychology Community Based Interview Assignment

    ERIC Educational Resources Information Center

    White, Geoffry D.

    1977-01-01

    A course option in abnormal psychology involves students in interviewing and observing the activities of individuals in the off-campus community who are concerned with some aspect of abnormal psychology. The technique generates student interest in the field when they interview people about topics such as drug abuse, transsexualism, and abuse of…

  8. Detection of Structural Abnormalities Using Neural Nets

    NASA Technical Reports Server (NTRS)

    Zak, M.; Maccalla, A.; Daggumati, V.; Gulati, S.; Toomarian, N.

    1996-01-01

    This paper describes a feed-forward neural net approach for detection of abnormal system behavior based upon sensor data analyses. A new dynamical invariant representing structural parameters of the system is introduced in such a way that any structural abnormalities in the system behavior are detected from the corresponding changes to the invariant.

  9. Nail abnormalities in patients with vitiligo*

    PubMed Central

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Background Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study. PMID:27579738

  10. Skeletal Muscle Abnormalities in Heart Failure.

    PubMed

    Kinugawa, Shintaro; Takada, Shingo; Matsushima, Shouji; Okita, Koichi; Tsutsui, Hiroyuki

    2015-01-01

    Exercise capacity is lowered in patients with heart failure, which limits their daily activities and also reduces their quality of life. Furthermore, lowered exercise capacity has been well demonstrated to be closely related to the severity and prognosis of heart failure. Skeletal muscle abnormalities including abnormal energy metabolism, transition of myofibers from type I to type II, mitochondrial dysfunction, reduction in muscular strength, and muscle atrophy have been shown to play a central role in lowered exercise capacity. The skeletal muscle abnormalities can be classified into the following main types: 1) low endurance due to mitochondrial dysfunction; and 2) low muscle mass and muscle strength due to imbalance of protein synthesis and degradation. The molecular mechanisms of these skeletal muscle abnormalities have been studied mainly using animal models. The current review including our recent study will focus upon the skeletal muscle abnormalities in heart failure. PMID:26346520

  11. Hair shaft abnormalities--clues to diagnosis and treatment.

    PubMed

    Itin, Peter H; Fistarol, Susanna K

    2005-01-01

    Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. Hair shaft abnormalities are characterized by changes in color, density, length and structure. Hair shaft alterations often result from structural changes within the hair fibers and cuticles which may lead to brittle and uncombable hair. The hair of patients with hair shaft diseases feels dry and looks lusterless. Hair shaft diseases may occur as localized or generalized disorders. Genetic predisposition or exogenous factors produce and maintain hair shaft abnormalities. Hair shaft diseases are separated into those with and those without increased hair fragility. In general, optic microscopy and polarized light microscopy of hair shafts provide important clues to the diagnosis of isolated hair shaft abnormalities or complex syndromes. To establish an exact diagnosis of dysplastic hair shafts, a structured history and physical examination of the whole patient are needed which emphasizes other skin appendages such as the nails, sweat and sebaceous glands. Profound knowledge on hair biology and embryology is necessary to understand the different symptom complexes. Therapy of hair shaft disorders should focus on the cause. In addition, minimizing traumatic influences to hair shafts, such as drying hair with an electric dryer or permanent waves and dyes, is important. A short hairstyle is more suitable for patients with hair shaft disorders.

  12. Meibomian gland dysfunction and tear film abnormalities in rosacea.

    PubMed

    Zengin, N; Tol, H; Gündüz, K; Okudan, S; Balevi, S; Endoğru, H

    1995-03-01

    In order to determine the relationship between meibomian gland dysfunction and tear film abnormalities in rosacea, tear film flow and stability and meibomian gland function were assessed in 43 consecutive patients. Schirmer, tear film break-up time, and meibomian gland function values in patients with ocular rosacea (n = 28) were found to be significantly decreased as compared with those of the patients with only cutaneous involvement and control patients (p > 0.05). In patients with dermatologic rosacea (n = 15) these values were not different from those of the age- and sex-matched controls (p > 0.05). The effects of tetracycline and meibomian gland expression therapy also were investigated in patients with ocular rosacea. Neither meibomian gland expression therapy nor tetracycline administration had beneficial effects on decreased tear secretion, but tetracycline improved the break-up time values. Our findings showed a positive relationship between tear film abnormalities and meibomian gland dysfunction in patients with rosacea. Decreased tear secretion in patients with ocular rosacea would seem to be a result of structural changes secondary to meibomian gland dysfunction, and short break-up time might be due to an abnormal meibum composition.

  13. Partial duplication 2p as the sole abnormality in two cases with anencephaly.

    PubMed

    Thangavelu, Maya; Frolich, Gary; Rogers, David

    2004-01-15

    Anencephaly/NTD has been observed in aneuploid and non-aneuploid individuals. We present two cases of anencephaly diagnosed prenatally with partial duplication of the short arm of chromosome 2 as the sole abnormality. The absence of aneuploidy involving other regions of the genome in these cases, further substantiates suggestions of the existence of a gene or genes on the short arm of chromosome 2 critical in the development of the central nervous system.

  14. MOMO syndrome: a possible third case.

    PubMed

    Zannolli, R; Mostardini, R; Hadjistilianou, T; Rosi, A; Berardi, R; Morgese, G

    2000-10-01

    This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

  15. 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

  16. 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

  17. Sleep Physiology, Abnormal States, and Therapeutic Interventions

    PubMed Central

    Wickboldt, Alvah T.; Bowen, Alex F.; Kaye, Aaron J.; Kaye, Adam M.; Rivera Bueno, Franklin; Kaye, Alan D.

    2012-01-01

    Sleep is essential. Unfortunately, a significant portion of the population experiences altered sleep states that often result in a multitude of health-related issues. The regulation of sleep and sleep-wake cycles is an area of intense research, and many options for treatment are available. The following review summarizes the current understanding of normal and abnormal sleep-related conditions and the available treatment options. All clinicians managing patients must recommend appropriate therapeutic interventions for abnormal sleep states. Clinicians' solid understanding of sleep physiology, abnormal sleep states, and treatments will greatly benefit patients regardless of their disease process. PMID:22778676

  18. Numerically abnormal chromosome constitutions in humans

    SciTech Connect

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  19. Four families with immunodeficiency and chromosome abnormalities.

    PubMed Central

    Candy, D C; Hayward, A R; Hughes, D T; Layward, L; Soothill, J F

    1979-01-01

    Six children, with severe deficiency of some or all of the immunoglobulins and minor somatic abnormalities, had chromosomal abnormalities: (1) 45,XY,t(13q/18q), (2) 46,XY,21ps +, (3) two brothers 46,XY (inv. 7) (4) 45,X,t(11p/10p)/46X,iXq,t(11p/10p) and, (5) in addendum, 45,XX,-18;46,XX, r18. The chromosome abnormalities were detected in B- as well as T-lymphocytes (as evidenced by using both PHA- and PWM-stimulated cultures) in all probands, but one was mosaic in PHA culture, although all his PWM-stimulated cells were abnormal. Chromosomal variants were also detected in relatives of three and immunodeficiency in relatives of two. Images Fig. 1 Fig. 3 PMID:314782

  20. Abnormal Uterine Bleeding (Beyond the Basics)

    MedlinePlus

    ... Approach to abnormal uterine bleeding in nonpregnant reproductive-age women Differential diagnosis of genital tract bleeding in women Postmenopausal uterine bleeding The following organizations also provide reliable health information. ● National Library of Medicine ( www.nlm.nih.gov/ ...

  1. Low-set ears and pinna abnormalities

    MedlinePlus

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... The outer ear or "pinna" forms when the baby is growing in the mother's womb. The growth of this ear part ...

  2. Electrocardiography series. Electrocardiographic T wave abnormalities.

    PubMed

    Lin, Weiqin; Teo, Swee Guan; Poh, Kian Keong

    2013-11-01

    The causes of abnormal T waves on electrocardiography are multiple and varied. Careful clinical history taking and physical examination are necessary for accurate identification of the cause of such abnormalities. Subsequent targeted specialised cardiac investigations, such as echocardiography or coronary angiography, may be of importance in the diagnosis of the underlying cardiac pathology. We present two cases of T wave inversions with markedly different aetiologies.

  3. Prevalence of asymptomatic urinary abnormalities among adolescents.

    PubMed

    Fouad, Mohamed; Boraie, Maher

    2016-05-01

    To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1%) individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8%) at the second screening, (P <0.001). Hematuria was the most common urinary abnormalities detected in 245 (9.8%) adolescents who had persistent urine abnormalities; 228 (9.1%) individuals had non glomerular hematuria. The hematuria was isolated in 150 (6%) individuals, combined with leukocyturia in 83 (3.3%) individuals, and combined with proteinuria in 12 (0.5%) individuals. Leukocyturia was detected in 150 (6%) of all studied adolescents; it was isolated in 39 (1.6%) individuals and combined with proteinuria in 28 (1.1%) of them. Asymptomatic bacteriuria was detected in 23 (0.9%) of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6%) of all the studied adolescents; 45 (1.8%) individuals had <0.5 g/day and twenty (0.8%) individuals had 0.5-3 g/day. Asymptomatic urinary abnormalities were more common in males than females and adolescents from rural than urban areas (P <0.01) and (P <0.001), respectively. The present study found a high prevalence of asymptomatic urinary abnormalities among adolescents in our population.

  4. 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.

  5. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    PubMed

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse.

  6. Chromosomal abnormalities in the newborn period.

    PubMed

    Seashore, M R

    1993-10-01

    Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. While some of the syndromes can be suspected on clinical grounds, the clinician will need to have a high index of suspicion based on the presence of multiple abnormalities that cannot be accounted for by other causes. Chromosome analysis should be performed promptly in these cases. Cultured lymphocytes are the standard preparation at present. However, new non-isotopic hybridization techniques are becoming available that allow analysis of interphase cells, and these may become more widely used as clinical experience with them is gained. Prognosis can usually be better defined once the chromosome analysis is complete. The information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives. Empathetic counseling of the parents and family must be provided once the diagnosis is known. It must take into account the knowledge the chromosome analysis provides, be respectful of the parent's need for support, and be accurate as to prognosis of the condition diagnosed. When Down syndrome and Turner syndrome have been diagnosed, care must be taken to emphasize the positive aspects of the prognosis. When a chromosomal abnormality with an extremely poor prognosis is identified, support for withdrawal of medical intervention must be sensitively provided. The diagnosis and care of an infant with a chromosomal abnormality will challenge all of the pediatrician's diagnostic, therapeutic, and communication skills.

  7. Dysmorphometrics: the modelling of morphological abnormalities

    PubMed Central

    2012-01-01

    Background The study of typical morphological variations using quantitative, morphometric descriptors has always interested biologists in general. However, unusual examples of form, such as abnormalities are often encountered in biomedical sciences. Despite the long history of morphometrics, the means to identify and quantify such unusual form differences remains limited. Methods A theoretical concept, called dysmorphometrics, is introduced augmenting current geometric morphometrics with a focus on identifying and modelling form abnormalities. Dysmorphometrics applies the paradigm of detecting form differences as outliers compared to an appropriate norm. To achieve this, the likelihood formulation of landmark superimpositions is extended with outlier processes explicitly introducing a latent variable coding for abnormalities. A tractable solution to this augmented superimposition problem is obtained using Expectation-Maximization. The topography of detected abnormalities is encoded in a dysmorphogram. Results We demonstrate the use of dysmorphometrics to measure abrupt changes in time, asymmetry and discordancy in a set of human faces presenting with facial abnormalities. Conclusion The results clearly illustrate the unique power to reveal unusual form differences given only normative data with clear applications in both biomedical practice & research. PMID:22309623

  8. Abnormal Magnetic Field Effects on Electrogenerated Chemiluminescence

    NASA Astrophysics Data System (ADS)

    Pan, Haiping; Shen, Yan; Wang, Hongfeng; He, Lei; Hu, Bin

    2015-03-01

    We report abnormal magnetic field effects on electrogenerated chemiluminescence (MFEECL) based on triplet emission from the Ru(bpy)3Cl2-TPrA electrochemical system: the appearance of MFEECL after magnetic field ceases. In early studies the normal MFEECL have been observed from electrochemical systems during the application of magnetic field. Here, the abnormal MFEECL suggest that the activated charge-transfer [Ru(bpy)33+ … TPrA•] complexes may become magnetized in magnetic field and experience a long magnetic relaxation after removing magnetic field. Our analysis indicates that the magnetic relaxation can gradually increase the density of charge-transfer complexes within reaction region due to decayed magnetic interactions, leading to a positive component in the abnormal MFEECL. On the other hand, the magnetic relaxation facilitates an inverse conversion from triplets to singlets within charge-transfer complexes. The inverse triplet --> singlet conversion reduces the density of triplet light-emitting states through charge-transfer complexes and gives rise to a negative component in the abnormal MFEECL. The combination of positive and negative components can essentially lead to a non-monotonic profile in the abnormal MFEECL after ceasing magnetic field. Nevertheless, our experimental studies may reveal un-usual magnetic behaviors with long magnetic relaxation from the activated charge-transfer [Ru(bpy)33+ … TPrA•] complexes in solution at room temperature.

  9. [Abnormalities of the penis in boys].

    PubMed

    Peycelon, M; Parmentier, B; Raquillet, C; Boubnova, J; Chouikh, T; Grosos, C; Honart, J-F; Pichon, A; Auber, F; Larroquet, M; Audry, G

    2012-12-01

    Abnormalities of the male genitalia have increased in the last 2 decades in numerous developed countries and remain a frequent reason of consultation in pediatric surgery. The diagnostic spectrum is wide, and surgeons should pay particular attention to these abnormalities because of their potential psychological effect. Anatomically, these abnormalities can affect one of three parts of the penis. First, the foreskin may not be fully retracted. This is normal at birth and can be caused by prepuce adherents that can continue until adolescence. Today, true phimosis is treated with topical corticoids from the age of 3 years. If medical treatment fails, a surgical procedure is required. Second, the urethra can be affected by hypospadia, which is the most frequent abnormality of the urethra. It is associated with ectopic urethral meatus, hypoplastic foreskin, and penis curvature. Its pathogenic background is not clearly understood. Surgery options differ according to the type of hypospadia and according to the surgeon's experience. It is sometimes hard to deal with, especially in a perineal form, where genetic and hormonal studies are recommended. These interventions can lead to complications ranging from stenosis to fistula. Therefore, parents have to be informed of the benefits and risks of the surgical procedures. Epispadias is rare but more serious because of the increasing risk of urinary incontinence. Finally, abnormalities of the corpora cavernosa - often associated with hypospadias - can include penis curvature and micropenis, for which an endocrinological analysis is essential. PMID:23121902

  10. Multi-complexity measures for early detection and monitoring of neurological abnormalities from gait time series

    NASA Astrophysics Data System (ADS)

    Gavrishchaka, Valeriy; Davis, Kristina; Senyukova, Olga

    2013-10-01

    Recently, we have proposed to use complementary complexity measures discovered by boosting-like ensemble learning for the enhancement of quantitative indicators dealing with necessarily short physiological time series. We have confirmed robustness of such multi-complexity measures for heart rate variability analysis with the emphasis on detection of emerging and intermittent cardiac abnormalities. Here we demonstrate that such ensemble-based approach could be also effective in discovering universal meta-indicators for early detection and convenient monitoring of neurological abnormalities using gait time series.

  11. Cardiac abnormalities in acromegaly. Pathophysiology and implications for management.

    PubMed

    Vitale, Giovanni; Pivonello, Rosario; Lombardi, Gaetano; Colao, Annamaria

    2004-01-01

    Cardiovascular disease is claimed to be one of the most severe complications of acromegaly, contributing significantly to mortality in this disease. In fact, an excess of growth hormone (GH) and insulin-like growth factor 1 (IGF-I) causes a specific derangement of cardiomyocytes, leading to abnormalities in cardiac muscle structure and function, inducing a specific cardiomyopathy. In the early phase of acromegaly the excess of GH and IGF-I induces a hyperkinetic syndrome, characterized by increased heart rate and increased systolic output. Concentric hypertrophy is the most common feature of cardiac involvement in acromegaly, found in more than two thirds of patients at diagnosis. This abnormality is commonly associated with diastolic dysfunction and eventually with impaired systolic function ending in heart failure, if the GH/IGF-I excess is left untreated. In addition, abnormalities of cardiac rhythm and of heart valves have also been described in acromegaly. The coexistence of other complications, such as arterial hypertension and diabetes mellitus, aggravates acromegalic cardiomyopathy. Successful control of acromegaly induces a decrease in left ventricular mass and an improvement in diastolic function, while the effects of GH/IGF-I suppression on systolic function are more variable. However, since cardiovascular alterations in young patients with short disease duration are milder than in those with longer disease duration, it is likely to be easier to reverse and/or arrest acromegalic cardiomyopathy in young patients with early-onset disease. In conclusion, careful assessments of cardiac function, morphology, and activity are required in patients with acromegaly. An early diagnosis and prompt effective treatment are important in order to reverse acromegalic cardiomyopathy.

  12. 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

  13. [Nutritional abnormalities in chronic obstructive pulmonary disease].

    PubMed

    Gea, Joaquim; Martínez-Llorens, Juana; Barreiro, Esther

    2014-07-22

    Nutritional abnormalities are associated with chronic obstructive pulmonary disease with a frequency ranging from 2 to 50%, depending on the geographical area and the study design. Diagnostic tools include anthropometry, bioelectrical impedance, dual energy radioabsortiometry and deuterium dilution, being the body mass and the lean mass indices the most frequently used parameters. While the most important consequences of nutritional abnormalities are muscle dysfunction and exercise limitation, factors implicated include an imbalance between caloric intake and consumption, and between anabolic and catabolic hormones, inflammation, tobacco smoking, poor physical activity, hypoxemia, some drugs and aging/comorbidities. The most important molecular mechanism for malnutrition associated with chronic obstructive pulmonary disease appears to be the mismatching between protein synthesis and breakdown. Among the therapeutic measures proposed for these nutritional abnormalities are improvements in lifestyle and nutritional support, although the use of anabolic drugs (such as secretagogues of the growth hormone) offers a new therapeutic strategy.

  14. Laparoscopy for resolving Müllerian abnormalities.

    PubMed

    Motashaw, N D; Dastur, A; Vaidya, R A; Aloorkar, M

    1978-07-01

    One hundred thirty-five patients with various müllerian abnormalities underwent laparoscopy. At a glance the precise malformation was diagnosed correctly: 44 patients revealed a complete absence of the müllerian system; 35 were found to have a transverse ridge across the pelvis, the lateral ends of which were well developed; 33 patients had rudimentary uteri; 7, a median müllerian nodule; 5 belonged to the group with the testicular feminization syndrome; 4 were classified as having a bicornuate uterus; 3 had unicornuate uteri; and 3, septate uteri. One rare variety of müllerian abnormality is also described. Laparoscopy was found to be invaluable in the diagnosis of müllerian abnormalities.

  15. [Nutritional abnormalities in chronic obstructive pulmonary disease].

    PubMed

    Gea, Joaquim; Martínez-Llorens, Juana; Barreiro, Esther

    2014-07-22

    Nutritional abnormalities are associated with chronic obstructive pulmonary disease with a frequency ranging from 2 to 50%, depending on the geographical area and the study design. Diagnostic tools include anthropometry, bioelectrical impedance, dual energy radioabsortiometry and deuterium dilution, being the body mass and the lean mass indices the most frequently used parameters. While the most important consequences of nutritional abnormalities are muscle dysfunction and exercise limitation, factors implicated include an imbalance between caloric intake and consumption, and between anabolic and catabolic hormones, inflammation, tobacco smoking, poor physical activity, hypoxemia, some drugs and aging/comorbidities. The most important molecular mechanism for malnutrition associated with chronic obstructive pulmonary disease appears to be the mismatching between protein synthesis and breakdown. Among the therapeutic measures proposed for these nutritional abnormalities are improvements in lifestyle and nutritional support, although the use of anabolic drugs (such as secretagogues of the growth hormone) offers a new therapeutic strategy. PMID:24054776

  16. Abnormal Grain Growth Suppression in Aluminum Alloys

    NASA Technical Reports Server (NTRS)

    Hales, Stephen J. (Inventor); Claytor, Harold Dale (Inventor); Alexa, Joel A. (Inventor)

    2015-01-01

    The present invention provides a process for suppressing abnormal grain growth in friction stir welded aluminum alloys by inserting an intermediate annealing treatment ("IAT") after the welding step on the article. The IAT may be followed by a solution heat treatment (SHT) on the article under effectively high solution heat treatment conditions. In at least some embodiments, a deformation step is conducted on the article under effective spin-forming deformation conditions or under effective superplastic deformation conditions. The invention further provides a welded article having suppressed abnormal grain growth, prepared by the process above. Preferably the article is characterized with greater than about 90% reduction in area fraction abnormal grain growth in any friction-stir-welded nugget.

  17. Parsing abnormal grain growth in specialty aluminas

    NASA Astrophysics Data System (ADS)

    Lawrence, Abigail Kremer

    Grain growth in alumina is strongly affected by the impurities present in the material. Certain impurity elements are known to have characteristic effects on abnormal grain growth in alumina. Specialty alumina powders contain multiple impurity species including MgO, CaO, SiO2, and Na 2O. In this work, sintered samples made from alumina powders containing various amounts of the impurities in question were characterized by their grain size and aspect ratio distributions. Multiple quantitative methods were used to characterize and classify samples with varying microstructures. The grain size distributions were used to partition the grain size population into subpopulations depending on the observed deviation from normal behavior. Using both grain size and aspect ratio a new visual representation for a microstructure was introduced called a morphology frequency map that gives a fingerprint for the material. The number of subpopulations within a sample and the shape of the distribution on the morphology map provided the basis for a classification scheme for different types of microstructures. Also using the two parameters a series of five metrics were calculated that describe the character of the abnormal grains in the sample, these were called abnormal character values. The abnormal character values describe the fraction of grains that are considered abnormal, the average magnitude of abnormality (including both grain size and aspect ratio), the average size, and variance in size. The final metric is the correlation between grain size and aspect ratio for the entire population of grains. The abnormal character values give a sense of how different from "normal" the sample is, given the assumption that a normal sample has a lognormal distribution of grain size and a Gaussian distribution of aspect ratios. In the second part of the work the quantified measures of abnormality were correlated with processing parameters such as composition and heat treatment conditions. A

  18. Schizophrenia and abnormal brain network hubs

    PubMed Central

    Rubinov, Mikail; Bullmore, Ed.

    2013-01-01

    Schizophrenia is a heterogeneous psychiatric disorder of unknown cause or characteristic pathology. Clinical neuroscientists increasingly postulate that schizophrenia is a disorder of brain network organization. In this article we discuss the conceptual framework of this dysconnection hypothesis, describe the predominant methodological paradigm for testing this hypothesis, and review recent evidence for disruption of central/hub brain regions, as a promising example of this hypothesis. We summarize studies of brain hubs in large-scale structural and functional brain networks and find strong evidence for network abnormalities of prefrontal hubs, and moderate evidence for network abnormalities of limbic, temporal, and parietal hubs. Future studies are needed to differentiate network dysfunction from previously observed gray- and white-matter abnormalities of these hubs, and to link endogenous network dysfunction phenotypes with perceptual, behavioral, and cognitive clinical phenotypes of schizophrenia. PMID:24174905

  19. Advances in understanding paternally transmitted Chromosomal Abnormalities

    SciTech Connect

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  20. Endocrine Abnormalities in Townes–Brocks Syndrome

    PubMed Central

    Lawrence, Cara; Hong-McAtee, Irene; Hall, Bryan; Hartsfield, James; Rutherford, Andrew; Bonilla, Tracy; Bay, Carolyn

    2016-01-01

    Townes–Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes–Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes–Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes–Brocks syndrome. PMID:23894113

  1. Echocardiographic abnormalities in the mucopolysaccharide storage diseases.

    PubMed

    Gross, D M; Williams, J C; Caprioli, C; Dominguez, B; Howell, R R

    1988-01-01

    The mucopolysaccharide storage diseases express themselves clinically with a wide variety of abnormalities, including growth and mental retardation, skeletal abnormalities, clouded corneas, nerve compression syndromes, upper airway obstruction and cardiovascular involvement, to name the most common. In most cases the cause of early death is cardiorespiratory failure secondary to cardiovascular involvement and upper airway obstruction. The findings of cardiac ultrasound examination in 29 children, adolescents and young adults are presented. In addition to the previously well-described abnormalities of the mitral and aortic valves in several types of mucopolysaccharide storage disease, we report patchy involvement in some cases, 3 instances of asymmetric septal hypertrophy not previously reported in mucopolysaccharide storage diseases, cardiac involvement in half of our patients with Sanfilippo syndrome and a lack of age-related severity of cardiac involvement even within the specific syndromes. PMID:3122547

  2. Visual perceptual abnormalities: hallucinations and illusions.

    PubMed

    Norton, J W; Corbett, J J

    2000-01-01

    Visual perceptual abnormalities may be caused by diverse etiologies which span the fields of psychiatry and neurology. This article reviews the differential diagnosis of visual perceptual abnormalities from both a neurological and a psychiatric perspective. Psychiatric etiologies include mania, depression, substance dependence, and schizophrenia. Common neurological causes include migraine, epilepsy, delirium, dementia, tumor, and stroke. The phenomena of palinopsia, oscillopsia, dysmetropsia, and polyopia among others are also reviewed. A systematic approach to the many causes of illusions and hallucinations may help to achieve an accurate diagnosis, and a more focused evaluation and treatment plan for patients who develop visual perceptual abnormalities. This article provides the practicing neurologist with a practical understanding and approach to patients with these clinical symptoms.

  3. Retinal abnormalities in β-thalassemia major.

    PubMed

    Bhoiwala, Devang L; Dunaief, Joshua L

    2016-01-01

    Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity. PMID:26325202

  4. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  5. Schizophrenia and abnormal brain network hubs.

    PubMed

    Rubinov, Mikail; Bullmore, Ed

    2013-09-01

    Schizophrenia is a heterogeneous psychiatric disorder of unknown cause or characteristic pathology. Clinical neuroscientists increasingly postulate that schizophrenia is a disorder of brain network organization. In this article we discuss the conceptual framework of this dysconnection hypothesis, describe the predominant methodological paradigm for testing this hypothesis, and review recent evidence for disruption of central/hub brain regions, as a promising example of this hypothesis. We summarize studies of brain hubs in large-scale structural and functional brain networks and find strong evidence for network abnormalities of prefrontal hubs, and moderate evidence for network abnormalities of limbic, temporal, and parietal hubs. Future studies are needed to differentiate network dysfunction from previously observed gray- and white-matter abnormalities of these hubs, and to link endogenous network dysfunction phenotypes with perceptual, behavioral, and cognitive clinical phenotypes of schizophrenia.

  6. Nonpathologizing trauma interventions in abnormal psychology courses.

    PubMed

    Hoover, Stephanie M; Luchner, Andrew F; Pickett, Rachel F

    2016-01-01

    Because abnormal psychology courses presuppose a focus on pathological human functioning, nonpathologizing interventions within these classes are particularly powerful and can reach survivors, bystanders, and perpetrators. Interventions are needed to improve the social response to trauma on college campuses. By applying psychodynamic and feminist multicultural theory, instructors can deliver nonpathologizing interventions about trauma and trauma response within these classes. We recommend class-based interventions with the following aims: (a) intentionally using nonpathologizing language, (b) normalizing trauma responses, (c) subjectively defining trauma, (d) challenging secondary victimization, and (e) questioning the delineation of abnormal and normal. The recommendations promote implications for instructor self-reflection, therapy interventions, and future research.

  7. Hemorheological abnormalities in human arterial hypertension

    NASA Astrophysics Data System (ADS)

    Lo Presti, Rosalia; Hopps, Eugenia; Caimi, Gregorio

    2014-05-01

    Blood rheology is impaired in hypertensive patients. The alteration involves blood and plasma viscosity, and the erythrocyte behaviour is often abnormal. The hemorheological pattern appears to be related to some pathophysiological mechanisms of hypertension and to organ damage, in particular left ventricular hypertrophy and myocardial ischemia. Abnormalities have been observed in erythrocyte membrane fluidity, explored by fluorescence spectroscopy and electron spin resonance. This may be relevant for red cell flow in microvessels and oxygen delivery to tissues. Although blood viscosity is not a direct target of antihypertensive therapy, the rheological properties of blood play a role in the pathophysiology of arterial hypertension and its vascular complications.

  8. Normal and abnormal human vestibular ocular function

    NASA Technical Reports Server (NTRS)

    Peterka, R. J.; Black, F. O.

    1986-01-01

    The major motivation of this research is to understand the role the vestibular system plays in sensorimotor interactions which result in spatial disorientation and motion sickness. A second goal was to explore the range of abnormality as it is reflected in quantitative measures of vestibular reflex responses. The results of a study of vestibular reflex measurements in normal subjects and preliminary results in abnormal subjects are presented in this report. Statistical methods were used to define the range of normal responses, and determine age related changes in function.

  9. Nonpathologizing trauma interventions in abnormal psychology courses.

    PubMed

    Hoover, Stephanie M; Luchner, Andrew F; Pickett, Rachel F

    2016-01-01

    Because abnormal psychology courses presuppose a focus on pathological human functioning, nonpathologizing interventions within these classes are particularly powerful and can reach survivors, bystanders, and perpetrators. Interventions are needed to improve the social response to trauma on college campuses. By applying psychodynamic and feminist multicultural theory, instructors can deliver nonpathologizing interventions about trauma and trauma response within these classes. We recommend class-based interventions with the following aims: (a) intentionally using nonpathologizing language, (b) normalizing trauma responses, (c) subjectively defining trauma, (d) challenging secondary victimization, and (e) questioning the delineation of abnormal and normal. The recommendations promote implications for instructor self-reflection, therapy interventions, and future research. PMID:26460794

  10. 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.

  11. 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

  12. Abnormal Selective Attention Normalizes P3 Amplitudes in PDD

    ERIC Educational Resources Information Center

    Hoeksma, Marco R.; Kemner, Chantal; Kenemans, J. Leon; van Engeland, Herman

    2006-01-01

    This paper studied whether abnormal P3 amplitudes in PDD are a corollary of abnormalities in ERP components related to selective attention in visual and auditory tasks. Furthermore, this study sought to clarify possible age differences in such abnormalities. Children with PDD showed smaller P3 amplitudes than controls, but no abnormalities in…

  13. Schizophrenogenic Parenting in Abnormal Psychology Textbooks.

    ERIC Educational Resources Information Center

    Wahl, Otto F.

    1989-01-01

    Considers the treatment of family causation of schizophrenia in undergraduate abnormal psychology textbooks. Reviews texts published only after 1986. Points out a number of implications for psychologists which arise from the inclusion in these texts of the idea that parents cause schizophrenia, not the least of which is the potential for…

  14. Teaching Abnormal Psychology in a Multimedia Classroom.

    ERIC Educational Resources Information Center

    Brewster, JoAnne

    1996-01-01

    Examines the techniques used in teaching an abnormal psychology class in a multimedia environment with two computers and a variety of audiovisual equipment. Students respond anonymously to various questions via keypads mounted on their desks, then immediately view and discuss summaries of their responses. (MJP)

  15. Psychology Faculty Perceptions of Abnormal Psychology Textbooks

    ERIC Educational Resources Information Center

    Rapport, Zachary

    2011-01-01

    The problem. The purpose of the current study was to investigate the perceptions and opinions of psychology professors regarding the accuracy and inclusiveness of abnormal psychology textbooks. It sought answers from psychology professors to the following questions: (1) What are the expectations of the psychology faculty at a private university of…

  16. Abnormally high formation pressures, Potwar Plateau, Pakistan

    USGS Publications Warehouse

    Law, B.E.; Shah, S.H.A.; Malik, M.A.

    1998-01-01

    Abnormally high formation pressures in the Potwar Plateau of north-central Pakistan are major obstacles to oil and gas exploration. Severe drilling problems associated with high pressures have, in some cases, prevented adequate evaluation of reservoirs and significantly increased drilling costs. Previous investigations of abnormal pressure in the Potwar Plateau have only identified abnormal pressures in Neogene rocks. We have identified two distinct pressure regimes in this Himalayan foreland fold and thrust belt basin: one in Neogene rocks and another in pre-Neogene rocks. Pore pressures in Neogene rocks are as high as lithostatic and are interpreted to be due to tectonic compression and compaction disequilibrium associated with high rates of sedimentation. Pore pressure gradients in pre-Neogene rocks are generally less than those in Neogene rocks, commonly ranging from 0.5 to 0.7 psi/ft (11.3 to 15.8 kPa/m) and are most likely due to a combination of tectonic compression and hydrocarbon generation. The top of abnormally high pressure is highly variable and doesn't appear to be related to any specific lithologic seal. Consequently, attempts to predict the depth to the top of overpressure prior to drilling are precluded.

  17. Abnormal interhemispheric connectivity in male psychopathic offenders

    PubMed Central

    Hoppenbrouwers, Sylco S.; De Jesus, Danilo R.; Sun, Yinming; Stirpe, Tania; Hofman, Dennis; McMaster, Jeff; Hughes, Ginny; Daskalakis, Zafiris J.; Schutter, Dennis J.L.G.

    2014-01-01

    Background Psychopathic offenders inevitably violate interpersonal norms and frequently resort to aggressive and criminal behaviour. The affective and cognitive deficits underlying these behaviours have been linked to abnormalities in functional interhemispheric connectivity. However, direct neurophysiological evidence for dysfunctional connectivity in psychopathic offenders is lacking. Methods We used transcranial magnetic stimulation combined with electroencephalography to examine interhemispheric connectivity in the dorsolateral and motor cortex in a sample of psychopathic offenders and healthy controls. We also measured intracortical inhibition and facilitation over the left and right motor cortex to investigate the effects of local cortical processes on interhemispheric connectivity. Results We enrolled 17 psychopathic offenders and 14 controls in our study. Global abnormalities in right to left functional connectivity were observed in psychopathic offenders compared with controls. Furthermore, in contrast to controls, psychopathic offenders showed increased intracortical inhibition in the right, but not the left, hemisphere. Limitations The relatively small sample size limited the sensitivity to show that the abnormalities in interhemispheric connectivity were specifically related to the dorsolateral prefrontal cortex in psychopathic offenders. Conclusion To our knowledge, this study provides the first neurophysiological evidence for abnormal interhemispheric connectivity in psychopathic offenders and may further our understanding of the disruptive antisocial behaviour of these offenders. PMID:23937798

  18. Dynamic Abnormal Grain Growth in Refractory Metals

    NASA Astrophysics Data System (ADS)

    Noell, Philip J.; Taleff, Eric M.

    2015-11-01

    High-temperature plastic deformation of the body-centered cubic (BCC) refractory metals Mo and Ta can initiate and propagate abnormal grains at significantly lower temperatures and faster rates than is possible by static annealing alone. This discovery reveals a new and potentially important aspect of abnormal grain growth (AGG) phenomena. The process of AGG during plastic deformation at elevated temperatures, termed dynamic abnormal grain growth (DAGG), was observed at homologous temperatures between 0.52 and 0.72 in both Mo and Ta sheet materials; these temperatures are much lower than those for previous observations of AGG in these materials during static annealing. DAGG was used to repeatedly grow single crystals several centimeters in length. Investigations to date have produced a basic understanding of the conditions that lead to DAGG and how DAGG is affected by microstructure in BCC refractory metals. The current state of understanding for DAGG is reviewed in this paper. Attention is given to the roles of temperature, plastic strain, boundary mobility and preexisting microstructure. DAGG is considered for its potential useful applications in solid-state crystal growth and its possibly detrimental role in creating undesired abnormal grains during thermomechanical processing.

  19. Pathways to abnormal revenge and forgiveness.

    PubMed

    Barclay, Pat

    2013-02-01

    The target article’s important point is easily misunderstood to claim that all revenge is adaptive. Revenge and forgiveness can overstretch (or understretch) the bounds of utility due to misperceptions, minimization of costly errors, a breakdown within our evolved revenge systems, or natural genetic and developmental variation. Together, these factors can compound to produce highly abnormal instances of revenge and forgiveness. PMID:23211704

  20. Abnormal Saccadic Eye Movements in Autistic Children.

    ERIC Educational Resources Information Center

    Kemner, C.; Verbaten, M. N.; Cuperus, J. M.; Camfferman, G.; van Engeland, H.

    1998-01-01

    The saccadic eye movements, generated during a visual oddball task, were compared for 10 autistic children, 10 children with attention deficit hyperactivity disorder, 10 dyslexic children, and 10 typically developing children. Several abnormal patterns of saccades were found in the autistic group. (DB)

  1. Behavioral abnormalities in captive nonhuman primates.

    PubMed

    Mallapur, Avanti; Choudhury, B C

    2003-01-01

    In this study, we dealt with 11 species of nonhuman primates across 10 zoos in India. We recorded behavior as instantaneous scans between 9 a.m. and 5 p.m. In the study, we segregated behaviors for analyses into abnormal, undesirable, active, and resting. The 4 types of abnormal behavior exhibited included floating limb, self-biting, self-clasping, and stereotypic pacing. In the study, we recorded 2 types of undesirable behavior: autoerotic stimulation and begging. Langurs and group-housed macaques did not exhibit undesirable behaviors. A male lion-tailed macaque and a male gibbon exhibited begging behavior. autoerotic stimulation and self-biting occurred rarely. Males exhibited higher levels of undesirable behavior than did females. Animals confiscated from touring zoos, circuses, and animal traders exhibited higher levels of abnormal behaviors than did animals reared in larger, recognized zoos. The stump-tailed macaque was the only species to exhibit floating limb, autoerotic stimulation, self-biting, and self-clasping. Our results show that rearing experience and group composition influence the proportions of abnormal behavior exhibited by nonhuman primates in captivity. The history of early social and environmental deprivation in these species of captive nonhuman primates probably is critical in the development of behavioral pathologies. Establishing this will require further research.

  2. Familial Precocious Fetal Abnormal Cortical Sulcation.

    PubMed

    Frassoni, Carolina; Avagliano, Laura; Inverardi, Francesca; Spaccini, Luigina; Parazzini, Cecilia; Rustico, Maria Angela; Bulfamante, Gaetano; Righini, Andrea

    2016-08-01

    The development of the human cerebral cortex is a complex and precisely programmed process by which alterations may lead to morphological and functional neurological abnormalities. We report familial cases of prenatally diagnosed abnormal brain, characterized by aberrant symmetrical mesial oversulcation of the parietooccipital lobes, in fetuses affected by abnormal skeletal features. Fetal brain anomalies were characterized by prenatal magnetic resonance imaging at 21 weeks of gestation and histologically evaluated at 22 weeks. Histological examination added relevant information showing some focal cortical areas of micropoligyria and heterotopic extension of the cortical plate into the marginal zone beneath the cortical surface. Genetic analysis of the fetuses excluded FGFR3 mutations known to be related to skeletal dysplasia and aberrant symmetrical oversulcation in other brain areas (temporal lobes). Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality unrelated to FGFR3 mutations or related to other not described FGFR3 gene defects. Using magnetic resonance imaging, histopathology and molecular characterization we provide an example of a translational study of a rare and unreported brain congenital malformation. PMID:27177044

  3. Abnormal Cervical Cancer Screening Test Results

    MedlinePlus

    ... LEEP) —A thin wire loop that carries an electric current is used to remove abnormal areas of the ... the cervix using a thin wire loop and electric energy. Pap ... this document sets forth current information and opinions related to women’s health. The ...

  4. Pancreatic abnormalities and AIDS related sclerosing cholangitis.

    PubMed Central

    Teare, J P; Daly, C A; Rodgers, C; Padley, S P; Coker, R J; Main, J; Harris, J R; Scullion, D; Bray, G P; Summerfield, J A

    1997-01-01

    OBJECTIVES: Biliary tract abnormalities are well recognised in AIDS, most frequently related to opportunistic infection with Cryptosporidium, Microsporidium, and cytomegalovirus. We noted a high frequency of pancreatic abnormalities associated with biliary tract disease. To define these further we reviewed the clinical and radiological features in these patients. METHODS: Notes and radiographs were available from two centres for 83 HIV positive patients who had undergone endoscopic retrograde cholangiopancreatography for the investigation of cholestatic liver function tests or abdominal pain. RESULTS: 56 patients had AIDS related sclerosing cholangitis (ARSC); 86% of these patients had epigastric or right upper quadrant pain and 52% had hepatomegaly. Of the patients with ARSC, 10 had papillary stenosis alone, 11 had intra- and extrahepatic sclerosing cholangitis alone, and 35 had a combination of the two. Ampullary biopsies performed in 24 patients confirmed an opportunistic infection in 16. In 15 patients, intraluminal polyps were noted on the cholangiogram. Pancreatograms were available in 34 of the 45 patients with papillary stenosis, in which 29 (81%) had associated pancreatic duct dilatation, often with associated features of chronic pancreatitis. In the remaining 27 patients, final diagnoses included drug induced liver disease, acalculous cholecystitis, gall bladder empyema, chronic B virus hepatitis, and alcoholic liver disease. CONCLUSION: Pancreatic abnormalities are commonly seen with ARSC and may be responsible for some of the pain not relieved by biliary sphincterotomy. The most frequent radiographic biliary abnormality is papillary stenosis combined with ductal sclerosis. Images PMID:9389948

  5. Sensory Abnormalities in Autism: A Brief Report

    ERIC Educational Resources Information Center

    Klintwall Lars; Holm, Anette; Eriksson, Mats; Carlsson, Lotta Hoglund; Olsson, Martina Barnevik; Hedvall, Asa; Gillberg, Christopher; Fernell, Elisabeth

    2011-01-01

    Sensory abnormalities were assessed in a population-based group of 208 20-54-month-old children, diagnosed with autism spectrum disorder (ASD) and referred to a specialized habilitation centre for early intervention. The children were subgrouped based upon degree of autistic symptoms and cognitive level by a research team at the centre. Parents…

  6. Gastric emptying abnormal in duodenal ulcer

    SciTech Connect

    Holt, S.; Heading, R.C.; Taylor, T.V.; Forrest, J.A.; Tothill, P.

    1986-07-01

    To investigate the possibility that an abnormality of gastric emptying exists in duodenal ulcer and to determine if such an abnormality persists after ulcer healing, scintigraphic gastric emptying measurements were undertaken in 16 duodenal ulcer patients before, during, and after therapy with cimetidine; in 12 patients with pernicious anemia, and in 12 control subjects. No difference was detected in the rate or pattern of gastric emptying in duodenal ulcer patients before and after ulcer healing with cimetidine compared with controls, but emptying of the solid component of the test meal was more rapid during treatment with the drug. Comparison of emptying patterns obtained in duodenal ulcer subjects during and after cimetidine treatment with those obtained in pernicious anemia patients and controls revealed a similar relationship that was characterized by a tendency for reduction in the normal differentiation between the emptying of solid and liquid from the stomach. The similarity in emptying patterns in these groups of subjects suggests that gastric emptying of solids may be influenced by changes in the volume of gastric secretion. The failure to detect an abnormality of gastric emptying in duodenal ulcer subjects before and after ulcer healing calls into question the widespread belief that abnormally rapid gastric emptying is a feature with pathogenetic significance in duodenal ulcer disease.

  7. Abnormal behaviors detection using particle motion model

    NASA Astrophysics Data System (ADS)

    Chen, Yutao; Zhang, Hong; Cheng, Feiyang; Yuan, Ding; You, Yuhu

    2015-03-01

    Human abnormal behaviors detection is one of the most challenging tasks in the video surveillance for the public security control. Interaction Energy Potential model is an effective and competitive method published recently to detect abnormal behaviors, but their model of abnormal behaviors is not accurate enough, so it has some limitations. In order to solve this problem, we propose a novel Particle Motion model. Firstly, we extract the foreground to improve the accuracy of interest points detection since the complex background usually degrade the effectiveness of interest points detection largely. Secondly, we detect the interest points using the graphics features. Here, the movement of each human target can be represented by the movements of detected interest points of the target. Then, we track these interest points in videos to record their positions and velocities. In this way, the velocity angles, position angles and distance between each two points can be calculated. Finally, we proposed a Particle Motion model to calculate the eigenvalue of each frame. An adaptive threshold method is proposed to detect abnormal behaviors. Experimental results on the BEHAVE dataset and online videos show that our method could detect fight and robbery events effectively and has a promising performance.

  8. Abnormal Web Usage Control by Proxy Strategies.

    ERIC Educational Resources Information Center

    Yu, Hsiang-Fu; Tseng, Li-Ming

    2002-01-01

    Approaches to designing a proxy server with Web usage control and to making the proxy server effective on local area networks are proposed to prevent abnormal Web access and to prioritize Web usage. A system is implemented to demonstrate the approaches. The implementation reveals that the proposed approaches are effective, such that the abnormal…

  9. Ultrasonography of gallbladder abnormalities due to schistosomiasis.

    PubMed

    Richter, Joachim; Azoulay, Daniel; Dong, Yi; Holtfreter, Martha C; Akpata, Robert; Calderaro, Julien; El-Scheich, Tarik; Breuer, Matthias; Neumayr, Andreas; Hatz, Christoph; Kircheis, Gerald; Botelho, Monica C; Dietrich, Christoph F

    2016-08-01

    After malaria, schistosomiasis remains the most important tropical parasitic disease in large parts of the world. Schistosomiasis has recently re-emerged in Southern Europe. Intestinal schistosomiasis is caused by most Schistosoma (S.) spp. pathogenic to humans and leads to chronic inflammation and fibrosis of the colon as well as to liver fibrosis. Gallbladder abnormalities usually occur in patients with advanced hepatic portal fibrosis due to Schistosoma mansoni infection. Occasionally, gallbladder abnormalities have been seen also in children and occurring without associated overt liver abnormalities.The specific S. mansoni-induced gallbladder abnormalities detectable by ultrasound include typical hyperechogenic wall thickening with external gallbladder wall protuberances. The luminal wall surface is smooth. The condition is usually clinically silent although some cases of symptomatic cholecystitis have been described. The ultrasonographic Murphy response is negative. Gallbladder contractility is impaired but sludge and calculi occur rarely. Contrary to other trematodes such as liver flukes, S. mansoni does not obstruct the biliary tract. Advanced gallbladder fibrosis is unlikely to reverse after therapy.

  10. 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 ...

  11. 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 ...

  12. Effects of subthalamic deep brain stimulation on blink abnormalities of 6-OHDA lesioned rats

    PubMed Central

    Kaminer, Jaime; Thakur, Pratibha

    2015-01-01

    Parkinson's disease (PD) patients and the 6-hydroxydopamine (6-OHDA) lesioned rat model share blink abnormalities. In view of the evolutionarily conserved organization of blinking, characterization of blink reflex circuits in rodents may elucidate the neural mechanisms of PD reflex abnormalities. We examine the extent of this shared pattern of blink abnormalities by measuring blink reflex excitability, blink reflex plasticity, and spontaneous blinking in 6-OHDA lesioned rats. We also investigate whether 130-Hz subthalamic nucleus deep brain stimulation (STN DBS) affects blink abnormalities, as it does in PD patients. Like PD patients, 6-OHDA-lesioned rats exhibit reflex blink hyperexcitability, impaired blink plasticity, and a reduced spontaneous blink rate. At 130 Hz, but not 16 Hz, STN DBS eliminates reflex blink hyperexcitability and restores both short- and long-term blink plasticity. Replicating its lack of effect in PD patients, 130-Hz STN DBS does not reinstate a normal temporal pattern or rate to spontaneous blinking in 6-OHDA lesioned rats. These data show that the 6-OHDA lesioned rat is an ideal model system for investigating the neural bases of reflex abnormalities in PD and highlight the complexity of PD's effects on motor control, by showing that dopamine depletion does not affect all blink systems via the same neural mechanisms. PMID:25673748

  13. Abnormalities in signaling pathways in diabetic nephropathy

    PubMed Central

    Brosius, Frank C; Khoury, Charbel C; Buller, Carolyn L; Chen, Sheldon

    2010-01-01

    Diabetic nephropathy (DN) is characterized by a plethora of signaling abnormalities that together ultimately result in the clinical and pathologic hallmarks of DN, namely progressive albuminuria followed by a gradual decline in glomerular filtration rate leading to kidney failure, and accompanied by podocyte loss, progressive glomerular sclerosis and, ultimately, progressive tubulointerstitial fibrosis. Over the past few years, the general understanding of the abnormalities in signaling pathways that lead to DN has expanded considerably. In this review, some of the important pathways that appear to be involved in driving this process are discussed, with special emphasis on newer findings and insights. Newer concepts regarding signaling changes in bradykinin, mTOR, JAK/STAT, MCP-1, VEGF, endothelial nitric oxide synthase, activated protein C and other pathways are discussed. PMID:20224802

  14. Chromosomal abnormalities in a psychiatric population

    SciTech Connect

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W.

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  15. [Psychiatric manifestations due to abnormal glucocorticoid levels].

    PubMed

    Lommerse, K M; Dijkstra, F N; Boeke, A J P; Eekhoff, E M W; Jacobs, G E

    2016-01-01

    This clinical case presentation describes the disease trajectory in two patients who presented with psychiatric symptoms as a result of abnormal serum glucocorticoid levels. One case involves a 58-year-old man with hypercortisolism, the other case concerns a 55-year-old woman with hypocortisolism. In both cases there was a considerable diagnostic delay in recognizing the underlying adrenal gland pathology. Abnormal glucocorticoid levels, caused by endocrine disorders, often results in psychiatric symptoms. Delay in diagnosis may have adverse consequences. Hyper- or hypocortisolism should be considered in patients who present with an atypical presentation of psychiatric symptoms. Moreover, the absence of specific physical signs or symptoms at first presentation in such patients does not exclude an underlying endocrinological cause. Therefore, physical and psychiatric reassessment of such patients should be considered at regular intervals. PMID:27507414

  16. Lie algebroids and optimal control: abnormality

    NASA Astrophysics Data System (ADS)

    Barbero-Liñán, M.; de Diego, D. Martín; Muñoz-Lecanda, M. C.

    2009-05-01

    Candidates to be solutions to optimal control problems, called extremals, are found using Pontryagin's Maximum Principle [9]. This Principle gives necessary conditions for optimality and, under suitable assumptions, starts a presymplectic constraint algorithm in the sense given in [3]. This procedure, first considered in optimal control theory in [6], can be adapted to characterize the different kinds of extremals [1]. In this paper, we describe the constraints given by the algorithm for the so-called abnormal extremals for optimal control problems defined on Lie algebroids [4, 7, 8]. The peculiarity of the abnormal extremals is their independence on the cost function to characterize them. In particular, we are interested in how useful the geometry provided by the Lie algebroid is to study the constraints obtained in the optimal control problems for affine connection control systems. These systems model the motion of different types of mechanical systems such as rigid bodies, nonholonomic systems and robotic arms [2].

  17. Practice and Educational Gaps in Abnormal Pigmentation.

    PubMed

    Mohammad, Tasneem F; Hamzavi, Iltefat H

    2016-07-01

    Dyschromia refers to abnormal pigmentation and is one of the most common diagnoses in dermatology. However, there are many educational and practice gaps in this area, specifically in melasma, postinflammatory hyperpigmentation, and vitiligo. This article aims to review the gold standard of care for these conditions as well as highlight common educational and practice gaps in these areas. Finally, possible solutions to these gaps are addressed. PMID:27363886

  18. Binocular combination in abnormal binocular vision.

    PubMed

    Ding, Jian; Klein, Stanley A; Levi, Dennis M

    2013-02-08

    We investigated suprathreshold binocular combination in humans with abnormal binocular visual experience early in life. In the first experiment we presented the two eyes with equal but opposite phase shifted sine waves and measured the perceived phase of the cyclopean sine wave. Normal observers have balanced vision between the two eyes when the two eyes' images have equal contrast (i.e., both eyes contribute equally to the perceived image and perceived phase = 0°). However, in observers with strabismus and/or amblyopia, balanced vision requires a higher contrast image in the nondominant eye (NDE) than the dominant eye (DE). This asymmetry between the two eyes is larger than predicted from the contrast sensitivities or monocular perceived contrast of the two eyes and is dependent on contrast and spatial frequency: more asymmetric with higher contrast and/or spatial frequency. Our results also revealed a surprising NDE-to-DE enhancement in some of our abnormal observers. This enhancement is not evident in normal vision because it is normally masked by interocular suppression. However, in these abnormal observers the NDE-to-DE suppression was weak or absent. In the second experiment, we used the identical stimuli to measure the perceived contrast of a cyclopean grating by matching the binocular combined contrast to a standard contrast presented to the DE. These measures provide strong constraints for model fitting. We found asymmetric interocular interactions in binocular contrast perception, which was dependent on both contrast and spatial frequency in the same way as in phase perception. By introducing asymmetric parameters to the modified Ding-Sperling model including interocular contrast gain enhancement, we succeeded in accounting for both binocular combined phase and contrast simultaneously. Adding binocular contrast gain control to the modified Ding-Sperling model enabled us to predict the results of dichoptic and binocular contrast discrimination experiments

  19. CT of trauma to the abnormal kidney

    SciTech Connect

    Rhyner, P.; Federle, M.P.; Jeffrey, R.B.

    1984-04-01

    Traumatic injuries to already abnormal kidneys are difficult to assess by excretory urography and clinical evaluation. Bleeding and urinary extravasation may accompany minor trauma; conversely, underlying tumors, perirenal hemorrhage, and extravasation may be missed on urography. Computed tomography (CT) was performed in eight cases including three neoplasms, one adult polycystic disease, one simple renal cyst, two hydronephrotic kidneys, and one horseshoe kidney. CT provided specific and clinically useful information in each case that was not apparent on excretory urography.

  20. Ocular abnormalities in thin basement membrane disease

    PubMed Central

    Colville, D.; Savige, J.; Branley, P.; Wilson, D.

    1997-01-01

    AIM/BACKGROUND—Alport syndrome is an X linked disease that results in renal failure, deafness, and ocular abnormalities including a dot and fleck retinopathy and anterior lenticonus. The ultrastructural appearance of the glomerular basement membrane in thin basement membrane disease (TBMD) resembles that seen in some patients with Alport syndrome, and in some cases this disease is inherited too. The aim of this study was to determine whether patients with TBMD have any ocular abnormalities.
METHODS—The eyes of 17 unrelated individuals with TBMD were studied by slit-lamp, including biomicroscopic fundus examination with a 78 D lens, by direct ophthalmoscopy, and by fundal photographs. The findings were compared with those in patients with IgA glomerulonephritis or Alport syndrome, and in normals.
RESULTS—No patient with TBMD had a dot and fleck retinopathy or anterior lenticonus. A corneal dystrophy (n = 2) or pigmentation (n = 1), and retinal pigment epithelial clumping and maculopathy (n = 1) were noted. Corneal, lens, and retinal dots were found in five (29%), three (18%), and 16 (94%) patients, respectively, but these were also demonstrated in individuals with other renal diseases and in normal individuals.
CONCLUSIONS—The dot and fleck retinopathy and anterior lenticonus typical of Alport syndrome do not occur in TBMD. The protein abnormality and genetic defect in TBMD are not known, but the lack of ocular lesions suggests that the abnormal protein in this disease is more sparsely distributed or less important in the basement membranes of the eye than of the kidney. Alternatively, the protein may be less affected by the mutations responsible for TBMD.

 PMID:9227202

  1. Varenicline and Abnormal Sleep Related Events

    PubMed Central

    Savage, Ruth L.; Zekarias, Alem; Caduff-Janosa, Pia

    2015-01-01

    Study Objectives: To assess adverse drug reaction reports of “abnormal sleep related events” associated with varenicline, a partial agonist to the α4β2 subtype of nicotinic acetylcholine receptors on neurones, indicated for smoking cessation. Design: Twenty-seven reports of “abnormal sleep related events” often associated with abnormal dreams, nightmares, or somnambulism, which are known to be associated with varenicline use, were identified in the World Health Organisation (WHO) Global Individual Case Safety Reports Database. Original anonymous reports were obtained from the four national pharmacovigilance centers that submitted these reports and assessed for reaction description and causality. Measurements and Results: These 27 reports include 10 of aggressive activity occurring during sleep and seven of other sleep related harmful or potentially harmful activities, such as apparently deliberate self-harm, moving a child or a car, or lighting a stove or a cigarette. Assessment of these 17 reports of aggression or other actual or potential harm showed that nine patients recovered or were recovering on varenicline withdrawal and there were no consistent alternative explanations. Thirteen patients experienced single events, and two had multiple events. Frequency was not stated for the remaining two patients. Conclusions: The descriptions of the reports of aggression during sleep with violent dreaming are similar to those of rapid eye movement sleep behavior disorder and also nonrapid eye movement (NREM) sleep parasomnias in some adults. Patients who experience somnambulism or dreams of a violent nature while taking varenicline should be advised to consult their health providers. Consideration should be given to clarifying the term sleep disorders in varenicline product information and including sleep related harmful and potentially harmful events. Citation: Savage RL, Zekarias A, Caduff-Janosa P. Varenicline and abnormal sleep related events. SLEEP 2015

  2. Abnormal dynamics of language in schizophrenia.

    PubMed

    Stephane, Massoud; Kuskowski, Michael; Gundel, Jeanette

    2014-05-30

    Language could be conceptualized as a dynamic system that includes multiple interactive levels (sub-lexical, lexical, sentence, and discourse) and components (phonology, semantics, and syntax). In schizophrenia, abnormalities are observed at all language elements (levels and components) but the dynamic between these elements remains unclear. We hypothesize that the dynamics between language elements in schizophrenia is abnormal and explore how this dynamic is altered. We, first, investigated language elements with comparable procedures in patients and healthy controls. Second, using measures of reaction time, we performed multiple linear regression analyses to evaluate the inter-relationships among language elements and the effect of group on these relationships. Patients significantly differed from controls with respect to sub-lexical/lexical, lexical/sentence, and sentence/discourse regression coefficients. The intercepts of the regression slopes increased in the same order above (from lower to higher levels) in patients but not in controls. Regression coefficients between syntax and both sentence level and discourse level semantics did not differentiate patients from controls. This study indicates that the dynamics between language elements is abnormal in schizophrenia. In patients, top-down flow of linguistic information might be reduced, and the relationship between phonology and semantics but not between syntax and semantics appears to be altered.

  3. Abnormal Activity Detection Using Pyroelectric Infrared Sensors

    PubMed Central

    Luo, Xiaomu; Tan, Huoyuan; Guan, Qiuju; Liu, Tong; Zhuo, Hankz Hankui; Shen, Baihua

    2016-01-01

    Healthy aging is one of the most important social issues. In this paper, we propose a method for abnormal activity detection without any manual labeling of the training samples. By leveraging the Field of View (FOV) modulation, the spatio-temporal characteristic of human activity is encoded into low-dimension data stream generated by the ceiling-mounted Pyroelectric Infrared (PIR) sensors. The similarity between normal training samples are measured based on Kullback-Leibler (KL) divergence of each pair of them. The natural clustering of normal activities is discovered through a self-tuning spectral clustering algorithm with unsupervised model selection on the eigenvectors of a modified similarity matrix. Hidden Markov Models (HMMs) are employed to model each cluster of normal activities and form feature vectors. One-Class Support Vector Machines (OSVMs) are used to profile the normal activities and detect abnormal activities. To validate the efficacy of our method, we conducted experiments in real indoor environments. The encouraging results show that our method is able to detect abnormal activities given only the normal training samples, which aims to avoid the laborious and inconsistent data labeling process. PMID:27271632

  4. Dynamic Abnormal Grain Growth in Molybdenum

    NASA Astrophysics Data System (ADS)

    Worthington, Daniel L.; Pedrazas, Nicholas A.; Noell, Philip J.; Taleff, Eric M.

    2013-11-01

    A new abnormal grain growth phenomenon that occurs only during continuous plastic straining, termed dynamic abnormal grain growth (DAGG), was observed in molybdenum (Mo) at elevated temperature. DAGG was produced in two commercial-purity molybdenum sheets and in a commercial-purity molybdenum wire. Single crystals, centimeters in length, were created in these materials through the DAGG process. DAGG was observed only at temperatures of 1713 K (1440 °C) and above and occurred across the range of strain rates investigated, ~10-5 to 10-4 s-1. DAGG initiates only after a critical plastic strain, which decreases with increasing temperature but is insensitive to strain rate. Following initiation of an abnormal grain, the rate of boundary migration during DAGG is on the order of 10 mm/min. This rapid growth provides a convenient means of producing large single crystals in the solid state. When significant normal grain growth occurs prior to DAGG, island grains result. DAGG was observed in sheet materials with two very different primary recrystallization textures. DAGG grains in Mo favor boundary growth along the tensile axis in a <110> direction, preferentially producing single crystals with orientations from an approximately <110> fiber family of orientations. A mechanism of boundary unpinning is proposed to explain the dependence of boundary migration on plastic straining during DAGG.

  5. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    PubMed Central

    Finnerup, Kenneth; Andresen, Sven R.; Nikolajsen, Lone; Finnerup, Nanna B.

    2015-01-01

    Background: Persistent postsurgical pain is a well-recognized problem after a number of common surgical procedures, such as amputation, thoracotomy, and inguinal hernia repair. Less is known about persistent pain after cosmetic surgical procedures. We, therefore, decided to study the incidence and characteristics of persistent pain after abdominoplasty, which is one of the most frequent cosmetic surgical procedures. Methods: In September 2014, a link to a web-based questionnaire was mailed to 217 patients who had undergone abdominoplasty between 2006 and 2014 at the Department of Plastic Surgery, Aalborg University Hospital, Denmark. The questionnaire included questions about pain and sensory abnormalities located to the abdominal skin, and physical and psychological function; patient satisfaction with surgery was rated on a 4-point scale. Results: One hundred seventy patients answered the questionnaire. Fourteen patients (8.2%) reported pain within the past 7 days related to the abdominoplasty. Abnormal abdominal skin sensation was common and reported by 138 patients (81%). Sensory hypersensitivity was associated with the presence of persistent pain. Satisfaction with the procedure was reported by 149 (88%) patients. The majority of patients reported improvement on all physical and psychological factors. Patients with pain were more often disappointed with the surgery and unwilling to recommend the surgery. Conclusions: Overall, patients were satisfied with the procedure, although abnormal abdominal skin sensation was common. However, there is a risk of developing persistent neuropathic pain after abdominoplasty, and patients should be informed about this before surgery. PMID:26893986

  6. Schizophrenia, abnormal connection, and brain evolution.

    PubMed

    Randall, P L

    1983-03-01

    Abnormalities of functional connection between specialized areas in the human brain may underlie the symptoms which constitute the schizophrenia syndrome. Callosal and intrahemispheric fibres may be equally involved. The clinical emergence of symptoms in the later stages of brain maturation may be dependent on myelination of these fibre groups, both of which have extended myelination cycles. Ontogenetically earlier variants of the same mechanism could theoretically result in dyslexia and the syndromes of Kanner and Gilles de la Tourette. As new and unique extensions of specialized function emerge within the evolving brain, biological trial and error of connection both within and between them may produce individuals possessing phylogenetically advanced abilities, or equally, others possessing a wide range of abnormalities including those which comprise the schizophrenia syndrome. A dormant phenotypic potential for schizophrenia may exist in individuals who never develop symptoms during the course of a lifetime though some of these may become clinically apparent under the influence of various precipitating factors. It is concluded that abnormal functional connection and its normal and "supernormal" counterparts may be natural, essential, and inevitable consequences of brain evolution, and that this may have been so throughout the history of vertebrate brain evolution.

  7. Abnormal calcium homeostasis in peripheral neuropathies

    PubMed Central

    Fernyhough, Paul; Calcutt, Nigel A.

    2010-01-01

    Abnormal neuronal calcium (Ca2+) homeostasis has been implicated in numerous diseases of the nervous system. The pathogenesis of two increasingly common disorders of the peripheral nervous system, namely neuropathic pain and diabetic polyneuropathy, has been associated with aberrant Ca2+ channel expression and function. Here we review the current state of knowledge regarding the role of Ca2+ dyshomeostasis and associated mitochondrial dysfunction in painful and diabetic neuropathies. The central impact of both alterations of Ca2+ signalling at the plasma membrane and also intracellular Ca2+ handling on sensory neuron function is discussed and related to abnormal endoplasmic reticulum performance. We also present new data highlighting sub-optimal axonal Ca 2+ signalling in diabetic neuropathy and discuss the putative role for this abnormality in the induction of axonal degeneration in peripheral neuropathies. The accumulating evidence implicating Ca2+ dysregulation with both painful and degenerative neuropathies, along with recent advances in understanding of regional variations in Ca2+ channel and pump structures, makes modulation of neuronal Ca2+ handling an increasingly viable approach for therapeutic interventions against the painful and degenerative aspects of many peripheral neuropathies. PMID:20034667

  8. Chemical induction of sperm abnormalities in mice.

    PubMed Central

    Wyrobek, A J; Bruce, W R

    1975-01-01

    The sperm of (C57BL X C3H)F1 mice were examined 1, 4, and 10 weeks after a subacute treatment with one of 25 chemicals at two or more dose levels. The fraction of sperm that were abnormal in shape was elevated above control values of 1.2-3.4% for methyl methanesulfonate, ethyl methanesulfonate, griseofulvin, benzo[a]pyrene, METEPA [tris(2-methyl-l-aziridinyl)phosphine oxide], THIO-TEPA [tris(l-aziridinyl)phosphine sulfide], mitomycin C, myleran, vinblastine sulphate, hydroxyurea, 3-methylcholanthrene, colchicine, actinomycin D, imuran, cyclophosphamide, 5-iododeoxyuridine, dichlorvos, aminopterin, and trimethylphosphate. Dimethylnitrosamine, urethane, DDT [1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane], 1,1-dimethylhydrazine, caffeine, and calcium cyclamate did not induce elevated levels of sperm abnormalities. The results suggest that sperm abnormalities might provide a rapid inexpensive mammalian screen for agents that lead to errors in the differentiation of spermatogenic stem cells in vivo and thus indicate agents which might prove to be mutagenic, teratogenic, or carcinogenic. Images PMID:1060122

  9. Abnormal Asymmetry of Brain Connectivity in Schizophrenia

    PubMed Central

    Ribolsi, Michele; Daskalakis, Zafiris J.; Siracusano, Alberto; Koch, Giacomo

    2014-01-01

    Recently, a growing body of data has revealed that beyond a dysfunction of connectivity among different brain areas in schizophrenia patients (SCZ), there is also an abnormal asymmetry of functional connectivity compared with healthy subjects. The loss of the cerebral torque and the abnormalities of gyrification, with an increased or more complex cortical folding in the right hemisphere may provide an anatomical basis for such aberrant connectivity in SCZ. Furthermore, diffusion tensor imaging studies have shown a significant reduction of leftward asymmetry in some key white-matter tracts in SCZ. In this paper, we review the studies that investigated both structural brain asymmetry and asymmetry of functional connectivity in healthy subjects and SCZ. From an analysis of the existing literature on this topic, we can hypothesize an overall generally attenuated asymmetry of functional connectivity in SCZ compared to healthy controls. Such attenuated asymmetry increases with the duration of the disease and correlates with psychotic symptoms. Finally, we hypothesize that structural deficits across the corpus callosum may contribute to the abnormal asymmetry of intra-hemispheric connectivity in schizophrenia. PMID:25566030

  10. Major Superficial White Matter Abnormalities in Huntington's Disease

    PubMed Central

    Phillips, Owen R.; Joshi, Shantanu H.; Squitieri, Ferdinando; Sanchez-Castaneda, Cristina; Narr, Katherine; Shattuck, David W.; Caltagirone, Carlo; Sabatini, Umberto; Di Paola, Margherita

    2016-01-01

    Background: The late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington's disease. It is an area of the brain that is late myelinating and is sensitive to both normal aging and neurodegenerative disease effects. Therefore, it may be sensitive to Huntington's disease processes. Methods: Structural MRI data from 25 Pre-symptomatic subjects, 24 Huntington's disease patients and 49 healthy controls was run through a cortical pattern-matching program. The surface corresponding to the white matter directly below the cortical gray matter was then extracted. Individual subject's Diffusion Tensor Imaging (DTI) data was aligned to their structural MRI data. Diffusivity values along the white matter surface were then sampled at each vertex point. DTI measures with high spatial resolution across the superficial white matter surface were then analyzed with the General Linear Model to test for the effects of disease. Results: There was an overall increase in the axial and radial diffusivity across much of the superficial white matter (p < 0.001) in Pre-symptomatic subjects compared to controls. In Huntington's disease patients increased diffusivity covered essentially the whole brain (p < 0.001). Changes are correlated with genotype (CAG repeat number) and disease burden (p < 0.001). Conclusions: This study showed broad abnormalities in superficial white matter even before symptoms are present in Huntington's disease. Since, the superficial white matter has a unique microstructure and function these abnormalities suggest it plays an important role in the disease. PMID:27242403

  11. 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

  12. Abnormal Anatomical Variations of Extra-Hepatic Biliary Tract, and Their Relation to Biliary Tract Injuries and Stones Formation

    PubMed Central

    Khayat, Meiaad F.; Al-Amoodi, Munaser S.; Aldaqal, Saleh M.; Sibiany, Abdulrahman

    2014-01-01

    Background To determine the most common abnormal anatomical variations of extra-hepatic biliary tract (EHBT), and their relation to biliary tract injuries and stones formation. Methods This is a retrospective review of 120 patients, who underwent endoscopic retrograde cholangiopancreaticography (ERCP) and/or magnetic resonance cholangiopancreaticography (MRCP), between July 2011 and June 2013. The patients’ ERCP and MRCP images were reviewed and evaluated for the anatomy of EHBT; the medical records were reviewed for demographic data, biliary tracts injuries and stones formation. Results Out of 120 patients, 50 were males (41.7%) and 70 were females (58.3%). The mean age was 54 years old (range 20 - 88). Abnormal anatomy was reported in 30% (n = 36). Short cystic duct (CD) was found in 20% (n = 24), left CD insertion in 5% (n = 6), CD inserted into the right hepatic duct (RHD) in 1.7% (n = 2), duct of Luschka in 3.33% (n = 4) and accessory hepatic duct in also 3.33% (n = 4). Biliary tract injuries were reported in 15% (n = 18) and stones in 71.7% (n = 86). Biliary tract injuries were higher in abnormal anatomy (P = 0.04), but there was no relation between abnormal anatomy and stones formation. Conclusion Abnormal anatomy of EHBT was found to be 30%. The most common abnormality is short CD followed by left CD insertion. Surgeons should be aware of these common abnormalities in our patients, hence avoiding injuries to the biliary tract during surgery. The abnormal anatomy was associated with high incidence of biliary tract injury but has no relation to biliary stone formation.

  13. Down's Syndrome and Leukemia: Mechanism of Additional Chromosomal Abnormalities

    ERIC Educational Resources Information Center

    And Others; Goh, Kong-oo

    1978-01-01

    Chromosomal abnormalities, some appearing in a stepwise clonal evoluation, were found in five Down's syndrome patients (35 weeks to 12 years old), four with acute leukemia and one with abnormal regulation of leukopoiesis. (Author/SBH)

  14. Chromosomal abnormalities as a cause of recurrent abortions in Egypt

    PubMed Central

    El-Dahtory, Faeza Abdel Mogib

    2011-01-01

    BACKGROUND: In 4%-8% of couples with recurrent abortion, at least one of the partners has chromosomal abnormality. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. These chromosomal abnormalities may be either numerical or structural. MATERIAL AND METHODS: Cytogenetic study was done for 73 Egyptian couples who presented with recurrent abortion at Genetic Unit of Children Hospital, Mansoura University. RESULTS: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 9 (6.1%) of 73 couples. Seven of chromosomal abnormalities were structural and two of them were numerical. CONCLUSION: Our results showed that 6.1% of the couples with recurrent abortion had chromosomal abnormalities, with no other abnormalities. We suggest that it is necessary to perform cytogenetic in vestigation for couples who have recurrent abortion. PMID:22090718

  15. Atlas of computed body tomography: normal and abnormal anatomy

    SciTech Connect

    Chiu, L.C.; Schapiro, R.L.

    1980-01-01

    This atlas contains comparative sections on normal and abnormal computed tomography of the neck, chest, abdomen, pelvis, upper and lower limbs, fascia, and peritoneum. Also included is a subject index to aid in the identification of abnormal scans. (DLS)

  16. Chromosome abnormalities in primary ovarian cancer

    SciTech Connect

    Yonescu, R.; Currie, J.; Griffin, C.A.

    1994-09-01

    Chromosome abnormalities that are specific and recurrent may occur in regions of the genome that are involved in the conversion of normal cells to those with tumorigenic potential. Ovarian cancer is the primary cause of death among patients with gynecological malignancies. We have performed cytogenetic analysis of 16 ovarian tumors from women age 28-82. Three tumors of low malignant potential and three granulosa cell tumors had normal karyotypes. To look for the presence of trisomy 12, which has been suggested to be a common aberration in this group of tumors, interphase fluorescence in situ hybridization was performed on direct preparations from three of these tumors using a probe for alpha satellite sequences of chromosome 12. In the 3 preparations, 92-98 percent of the cells contained two copies of chromosome 12, indicating that trisomy 12 is not a universal finding in low grade ovarian tumors. Endometrioid carcinoma of the ovary is histologically indistinguishable from endometial carcinoma of the uterus. We studied 10 endometrioid tumors to determine the degree of genetic similarity between these two carcinomas. Six out of ten endometrioid tumors showed a near-triploid modal number, and one presented with a tetraploid modal number. Eight of the ten contained structural chromosome abnormalities, of which the most frequent were 1p- (5 tumors), 19q+ (3 tumors), 6q- or ins(6) (4 tumors), 3q- or 3q+ (4 tumors). These cytogenetic results resemble those reported for papillary ovarian tumors and differ from those of endometrial carcinoma of the uterus. We conclude that despite the histologic similarities between the endometrioid and endometrial carcinomas, the genetic abnormalities in the genesis of these tumors differ significantly.

  17. Fetal MR Imaging of Gastrointestinal Abnormalities.

    PubMed

    Furey, Elizabeth A; Bailey, April A; Twickler, Diane M

    2016-01-01

    Fetal magnetic resonance (MR) imaging plays an increasing and valuable role in antenatal diagnosis and perinatal management of fetal gastrointestinal (GI) abnormalities. Advances in MR imaging data acquisition and use of motion-insensitive techniques have established MR imaging as an important adjunct to obstetric ultrasonography (US) for fetal diagnosis. In this regard, MR imaging provides high diagnostic accuracy for antenatal diagnosis of common and uncommon GI pathologic conditions. In the setting of fetal GI disease, T1-weighted images demonstrate the amount and distribution of meconium, which is crucial to the diagnostic capability of fetal MR imaging. Specifically, knowledge of the T1 signal intensity characteristics of fetal meconium, the normal pattern of meconium with advancing gestational age, and the expected caliber of small and large bowel in the fetus is key to diagnosis of abnormalities of the GI tract. Use of ultrafast T2-weighted sequences for evaluation of the expected location and morphology of fluid-containing structures, including the stomach and small bowel, in the fetal abdomen further aids in diagnostic confidence. Uncommonly encountered fetal GI pathologic conditions, especially cloacal dysmorphology, may demonstrate characteristic MR imaging patterns, which may add additional information to that from fetal US, allowing improved fetal and neonatal management. This article discusses common indications for fetal MR imaging of the GI tract, imaging protocols for fetal GI MR imaging, the normal appearance of the fetal GI tract with advancing gestational age, and the imaging appearances of common fetal GI abnormalities, as well as uncommon fetal GI conditions with characteristic appearances. (©)RSNA, 2016. PMID:27163598

  18. A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol

    PubMed Central

    Paul, S. Arun; Simon, S. Sibu; Karthik, A. Kaneesh; Chacko, Rabin K.; Savitha, S.

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity. PMID:26538892

  19. Cranial computed tomographic abnormalities in leptomeningeal metastasis

    SciTech Connect

    Lee, Y.Y.; Glass, J.P.; Geoffray, A.; Wallace, S.

    1984-11-01

    Sixty-four (57.6%) of 111 cancer patients with cerebrospinal fluid cytology positive for malignant cells had cranial computed tomographic (CT) scans within 2 weeks before or after a lumbar puncture. Twenty-two (34.3%) of the 64 had abnormal CT findings indicative of leptomeningeal metastasis. Thirteen (59.6%) of these 22 patients had associated parenchymal metastases. Recognition of leptomeningeal disease may alter the management of patients with parenchymal metastases. Communicating hydrocephalus in cancer patients should be considered to be related to leptomeningeal metastasis until proven otherwise.

  20. Radiological abnormalities in electric-arc welders.

    PubMed Central

    Attfield, M D; Ross, D S

    1978-01-01

    Chest radiographs of 661 British electric-arc welders have been examined by three film readers experienced in the radiology of pneumoconiosis. About 7% of the welders showed signs of small rounded opacities of category 0/1 or greater. No definite evidence of large opacities (Progressive Massive Fibrosis) was seen. The prevalence of chest abnormalities other than pneumoconiosis was 7%. A clear association between prevalence of small rounded opacities of category 0/1 or greater and years of exposure to fumes was established, although few signs of severe grades of simple pneumoconiosis were seen. PMID:656335

  1. Index finger abnormalities in Simpson-Golabi-Behmel syndrome.

    PubMed

    Day, Ruth; Fryer, Alan

    2005-01-01

    Simpson-Golabi-Behmel syndrome (SGBS) is an X linked recessive overgrowth disorder in which digital abnormalities are a well-described aspect of the phenotype. We report a case with marked index finger hypoplasia and a congenital abnormality of the proximal phalanx and review the literature detailing index finger abnormalities in this condition.

  2. Abnormal Behavior in Relation to Cage Size in Rhesus Monkeys

    ERIC Educational Resources Information Center

    Paulk, H. H.; And Others

    1977-01-01

    Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)

  3. 42 CFR 37.54 - Notification of abnormal radiographic findings.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ..., abnormality of cardiac shape or size, tuberculosis, lung cancer, or any other significant abnormal findings... shape or size, tuberculosis, cancer, complicated pneumoconiosis, and any other significant abnormal... in accordance with section 203 of the Act (see 30 CFR part 90). Positive findings with regard...

  4. 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.

  5. 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

  6. [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.

  7. 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

  8. Association of Long-Term Air Pollution with Ventricular Conduction and Repolarization Abnormalities

    PubMed Central

    Van Hee, Victor C; Szpiro, Adam A; Prineas, Ronald; Neyer, Jonathan; Watson, Karol; Siscovick, David; Park, Sung Kyun; Kaufman, Joel D

    2011-01-01

    Background Short-term exposure to air pollution may affect ventricular repolarization, but there is limited information on how long-term exposures might affect the surface ventricular electrocardiographic (ECG) abnormalities associated with cardiovascular events. We carried out a study to determine whether long-term air pollution exposure is associated with abnormalities of ventricular repolarization and conduction in adults without known cardiovascular disease. Methods A total of 4783 participants free of clinical cardiovascular disease in the Multi-Ethnic Study of Atherosclerosis underwent 12-lead ECG examinations, cardiac-computed tomography and calcium scoring, as well as estimation of air pollution exposure using a finely resolved spatio-temporal model to determine long-term average individual exposure to fine particulate matter (PM2.5) and proximity to major roadways. We assessed ventricular electrical abnormalities including presence of QT prolongation (Rautaharju QTrr criteria) and intraventricular conduction delay (QRS duration > 120 msec). We used logistic regression to determine the adjusted relationship between air pollution exposures and ECG abnormalities. Results A 10 µg/m3-increase in estimated residential PM2.5 was associated with an increased odds of prevalent QT prolongation (adjusted odds ratio [OR]= 1.6 [95% confidence interval (CI)= 1.2 to 2.2]) and intraventricular conduction delay (OR 1.7, 95% CI: 1.0 to 2.6, independent of coronary-artery calcium score. Living near major roadways was not associated with ventricular electrical abnormalities. No significant evidence of effect modification by traditional risk factors or study site was observed. Conclusions This study demonstrates an association between long-term exposure to air pollution and ventricular repolarization and conduction abnormalities in adults without clinical cardiovascular disease, independent of subclinical coronary arterial calcification. PMID:21918454

  9. Abnormal appearances: inspection, display and the clinic.

    PubMed

    Featherstone, Katie; Atkinson, Paul

    2014-01-01

    We provide an examination of the field of dysmorphology, a clinical speciality that in its current form combines a long history of inspection and display with the identification and representation of associated underlying molecular changes. The recognition and description of abnormal appearances is thus increasingly accompanied by genetic and other molecular investigations. Our analysis draws on our long-term ethnographic engagement with a UK clinical genetics service and the work of two clinical genetics teams within a regional teaching hospital. We document the intersection of genetic science with clinical work to suggest that while molecular testing often identifies the genetic basis for unusual appearances and abnormal development, it does not fully supplant clinical apperception and interpretation. The two modes of knowledge--the clinical and the biomedical--co-exist in the work and the discourse of dysmorphology practice. The contemporary dysmorphology clinic thus encapsulates the epistemological systems of modern medicine, grounded in the clinical gaze and on the classificatory systems of classic nosology. Within such a system of clinical knowledge, the 'monstrous' does not escape the boundaries of knowledge. Monstrous appearances are accommodated and domesticated within the classificatory systems of normal medicine.

  10. Fertilization potential of spermatozoa with abnormal morphology.

    PubMed

    Nikolettos, N; Küpker, W; Demirel, C; Schöpper, B; Blasig, C; Sturm, R; Felberbaum, R; Bauer, O; Diedrich, K; Al-Hasani, S

    1999-09-01

    One of the best discriminators for the fertilization potential of human spermatozoa is sperm morphology. The problem in the assessment of the sperm morphological characteristics is their pleiomorphism. Examination of spermatozoa with the light microscope can provide only limited information on their internal structure. More detailed examination of sperm structure using electron microscopy can reveal major, often unsuspected ultrastructural abnormalities. Results and cut-off values for sperm analysis depend on the criteria for normal morphology. World Health Organization recommendations provide a classification suitable for clinical practice. Clinically reliable cut-off limits for normal sperm morphology according to strict Tygerberg criteria were suggested to be 4% in in-vitro fertilization procedures. Patients with severe sperm head abnormalities have a lower chance of establishing successful pregnancies, even though fertilization may be achieved. The outcome of intracytoplasmic sperm injection is not related to any of the standard semen parameters or to sperm morphology. Sperm decondensation defects and DNA anomalies may be underlying factors for the unrecognized derangements of the fertilizing capacity of spermatozoa, regardless of sperm morphology. Centrosome dysfunction may also represent a class of sperm defects that cannot be overcome simply by the insertion of a spermatozoon into the ooplasm. In this article an overview on the composition and ultrastructure of spermatozoa is presented, while emphasizing sperm ultrastructural and sperm DNA anomalies and their effects on fertilization.

  11. Small Airway Dysfunction and Abnormal Exercise Responses

    PubMed Central

    Petsonk, Edward L.; Stansbury, Robert C.; Beeckman-Wagner, Lu-Ann; Long, Joshua L.; Wang, Mei Lin

    2016-01-01

    Rationale Coal mine dust exposure can cause symptoms and loss of lung function from multiple mechanisms, but the roles of each disease process are not fully understood. Objectives We investigated the implications of small airway dysfunction for exercise physiology among a group of workers exposed to coal mine dust. Methods Twenty coal miners performed spirometry, first breathing air and then helium-oxygen, single-breath diffusing capacity, and computerized chest tomography, and then completed cardiopulmonary exercise testing. Measurements and Main Results Six participants meeting criteria for small airway dysfunction were compared with 14 coal miners who did not. At submaximal workload, miners with small airway dysfunction used a higher proportion of their maximum voluntary ventilation and had higher ventilatory equivalents for both O2 and CO2. Regression modeling indicated that inefficient ventilation was significantly related to small airway dysfunction but not to FEV1 or diffusing capacity. At the end of exercise, miners with small airway dysfunction had 27% lower O2 consumption. Conclusions Small airway abnormalities may be associated with important inefficiency of exercise ventilation. In dust-exposed individuals with only mild abnormalities on resting lung function tests or chest radiographs, cardiopulmonary exercise testing may be important in defining causes of exercise intolerance. PMID:27073987

  12. Chromosomal abnormalities associated with cyclopia and synophthalmia.

    PubMed Central

    Howard, R O

    1977-01-01

    At the present time, essentially all known facts concerning cyclopia are consistent with some chromosomal disease, including clinical features of the pregnancy (fetal wastage, prematurity, intrauterine growth retardation, maternal age factor, complications of pregnancy), the generalized developmental abnormalities, specific ocular dysgenesis, by the high incidence of chromosomal abnormality already demonstrated, and the possibility of error in those cases of cyclopia with normal chromosomes. Even if chromosomal aberrations represent only one group of several different etiologic factors leading to cyclopia, at the present time chromosomal errors would seem to be the most common cause of cyclopia now recognized. Further studies will establish or disprove a chromosomal error in those instances which are now considered to be the result of an environmental factor alone or those with apparent familial patterns of inheritance. This apparent diverse origin of cyclopia can be clarified if future cyclopic specimens are carefully investigated. The evaluation should include a careful gross and microscopic examination of all organs, including the eye, and chromosome banding studies of all organs, including the eye, and chromosome banding studies of at least two cyclopic tissues. Then the presence or absence of multiple causative factors can be better evaluated. Images FIGURE 2 A FIGURE 2 B FIGURE 1 A FIGURE 1 B FIGURE 1 C FIGURE 1 D FIGURE 1 E FIGURE 1 F FIGURE 3 A FIGURE 3 B FIGURE 4 A FIGURE 4 B FIGURE 4 C FIGURE 4 D FIGURE 5 FIGURE 6 FIGURE 7 A FIGURE 7 B PMID:418547

  13. Native fluorescence characterization of human liver abnormalities

    NASA Astrophysics Data System (ADS)

    Ganesan, Singaravelu; Madhuri, S.; Aruna, Prakasa R.; Suchitra, S.; Srinivasan, T. G.

    1999-05-01

    Fluorescence spectroscopy of intrinsic biomolecules has been extensively used in biology and medicine for the past several decades. In the present study, we report the native fluorescence characteristics of blood plasma from normal human subjects and patients with different liver abnormalities such as hepatitis, leptospirosis, jaundice, cirrhosis and liver cell failure. Native fluorescence spectra of blood plasma -- acetone extract were measured at 405 nm excitation. The average spectrum of normal blood plasma has a prominent emission peak around 464 nm whereas in the case of liver diseased subjects, the primary peak is red shifted with respect to normal. In addition, liver diseased cases show distinct secondary emission peak around 615 nm, which may be attributed to the presence of endogenous porphyrins. The red shift of the prominent emission peak with respect to normal is found to be maximum for hepatitis and minimum for cirrhosis whereas the secondary emission peak around 615 nm was found to be more prominent in the case of cirrhosis than the rest. The ratio parameter I465/I615 is found to be statistically significant (p less than 0.001) in discriminating liver abnormalities from normal.

  14. 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

  15. A frequent phenotype for paediatric sleep apnoea: short lingual frenulum

    PubMed Central

    Huseni, Shehlanoor; Lo, Lauren

    2016-01-01

    A short lingual frenulum has been associated with difficulties in sucking, swallowing and speech. The oral dysfunction induced by a short lingual frenulum can lead to oral-facial dysmorphosis, which decreases the size of upper airway support. Such progressive change increases the risk of upper airway collapsibility during sleep. Clinical investigation of the oral cavity was conducted as a part of a clinical evaluation of children suspected of having sleep disordered breathing (SDB) based on complaints, symptoms and signs. Systematic polysomnographic evaluation followed the clinical examination. A retrospective analysis of 150 successively seen children suspected of having SDB was performed, in addition to a comparison of the findings between children with and without short lingual frenula. Among the children, two groups of obstructive sleep apnoea syndrome (OSAS) were found: 1) absence of adenotonsils enlargement and short frenula (n=63); and 2) normal frenula and enlarged adenotonsils (n=87). Children in the first group had significantly more abnormal oral anatomy findings, and a positive family of short frenulum and SDB was documented in at least one direct family member in 60 cases. A short lingual frenulum left untreated at birth is associated with OSAS at later age, and a systematic screening for the syndrome should be conducted when this anatomical abnormality is recognised. PMID:27730205

  16. Hyperekplexia and stiff-man syndrome: abnormal brainstem reflexes suggest a physiological relationship

    PubMed Central

    Khasani, S; Becker, K; Meinck, H

    2004-01-01

    Background and objectives: Hyperekplexia and the stiff-man syndrome (SMS) are both conditions with exaggerated startle suggesting abnormal brainstem function. Investigation of brainstem reflexes may provide insight into disturbed reflex excitation and inhibition underlying these movement disorders. Patients and methods: Using four-channel EMG, we examined four trigeminal brainstem reflexes (monosynaptic masseter, masseter inhibitory, glabella, and orbicularis oculi blink reflexes) and their spread into pericranial muscles in five patients with familial hyperekplexia (FH), two with acquired hyperekplexia (AH), 10 with SMS, and 15 healthy control subjects. Results: Both FH/AH and SMS patients had abnormal propagation of brainstem reflexes into pericranial muscles. All patients with hyperekplexia showed an abnormal short-latency (15–20 ms) reflex in the trapezius muscle with a characteristic clinical appearance ("head retraction jerk") evoked by tactile or electrical stimulation of the trigeminal nerve, but normal monosynaptic masseter reflexes. Inhibitory brainstem reflexes were attenuated in some FH/AH patients. Four of 10 patients with SMS had similar short-latency reflexes in the neck muscles and frequently showed widespread enhancement of other excitatory reflexes, reflex spasms, and attenuation of inhibitory brainstem reflexes. Conclusion: Reflex excitation is exaggerated and inhibition is attenuated in both stiff-man syndrome and familial or acquired hyperekplexia, indicating a physiological relationship. Reflex transmission in the brainstem appears biased towards excitation which may imply dysfunction of inhibitory glycinergic or GABAergic interneurons, or both. PMID:15314112

  17. Positive reinforcement training moderates only high levels of abnormal behavior in singly housed rhesus macaques.

    PubMed

    Baker, Kate C; Bloomsmith, Mollie; Neu, Kimberly; Griffis, Caroline; Maloney, Margaret; Oettinger, Brooke; Schoof, Valerie A M; Martinez, Marni

    2009-01-01

    This study evaluated the application of positive reinforcement training (PRT) as an intervention for abnormal behaviors in singly housed laboratory rhesus macaques at 2 large primate facilities. Training involved basic control behaviors and body-part presentation. The study compared baseline behavioral data on 30 adult males and 33 adult females compared with 3 treatment phases presented in counterbalanced order: 6 min per week of PRT, 20 or 40 min per week of PRT, and 6 min per week of unstructured human interaction (HI). Within-subject parametric tests detected no main or interaction effects involving experimental phase. However, among a subset of subjects with levels of abnormal in the top quartile of the range (n = 15), abnormal behavior was reduced from 35% to 25% of samples with PRT but not with HI. These results suggest that short durations of PRT applied as enrichment for this species and in this context may not in itself be sufficient intervention for abnormal behavior because levels remained high. However, it may be appropriate as an adjunct to other interventions and may be best targeted to the most severely affected individuals.

  18. Positive Reinforcement Training Moderates Only High Levels of Abnormal Behavior in Singly Housed Rhesus Macaques

    PubMed Central

    Baker, Kate C.; Bloomsmith, Mollie; Neu, Kimberly; Griffis, Caroline; Maloney, Margaret; Oettinger, Brooke; Schoof, Valérie A. M.; Martinez, Marni

    2010-01-01

    This study evaluated the application of positive reinforcement training (PRT) as an intervention for abnormal behaviors in singly housed laboratory rhesus macaques at 2 large primate facilities. Training involved basic control behaviors and body-part presentation. The study compared baseline behavioral data on 30 adult males and 33 adult females compared with 3 treatment phases presented in counterbalanced order: 6 min per week of PRT, 20 or 40 min per week of PRT, and 6 min per week of unstructured human interaction (HI). Within-subject parametric tests detected no main or interaction effects involving experimental phase. However, among a subset of subjects with levels of abnormal in the top quartile of the range (n = 15), abnormal behavior was reduced from 35% to 25% of samples with PRT but not with HI. These results suggest that short durations of PRT applied as enrichment for this species and in this context may not in itself be sufficient intervention for abnormal behavior because levels remained high. However, it may be appropriate as an adjunct to other interventions and may be best targeted to the most severely affected individuals. PMID:20183477

  19. Environmental factors during early developmental period influence psychobehavioral abnormalities in adult PACAP-deficient mice.

    PubMed

    Ishihama, Toshihiro; Ago, Yukio; Shintani, Norihito; Hashimoto, Hitoshi; Baba, Akemichi; Takuma, Kazuhiro; Matsuda, Toshio

    2010-06-19

    Mice lacking the neuropeptide pituitary adenylate cyclase-activating polypeptide (PACAP) (PACAP(-/-)) display behavioral abnormalities, and genetic variants of the genes encoding PACAP are associated with schizophrenia. Clinical studies show that environmental factors, besides genetic factors, play a key role in etiology of many psychiatric disorders. This study examined the effects of environmental factors such as short-term social isolation and an enriched environment on behavioral abnormalities of PACAP(-/-) mice. Rearing in isolation for 2-weeks from 4-weeks old induced hyperlocomotion and aggressive behaviors in the PACAP(-/-) mice without affecting the behavioral performance of the wild-type controls. Adult PACAP(-/-) mice showed not only hyperactivity, jumping behavior, and depression-like behavior, but also decreased social interaction. These abnormal behaviors were improved by rearing for 4-weeks in an early enriched environment (from 4-weeks old), although the deficits of prepulse inhibition (PPI) were not influenced by the enriched condition. In contrast, rearing for 4-weeks in late enriched environment (from 8-weeks old) did not affect the hyperactivity and jumping behaviors in the PACAP(-/-) mice. These results suggest that abnormal behaviors except PPI deficits in PACAP(-/-) mice depend on the environmental factors during the early stages of development.

  20. Gastric manometric abnormalities in patients with dyspeptic symptoms after fundoplication.

    PubMed Central

    Stanghellini, V; Malagelada, J R

    1983-01-01

    We describe six patients in whom severe dyspeptic symptoms developed after fundoplication. The symptoms began immediately after operation (three patients) or shortly thereafter (three and eight months). There were no other known predisposing factors to gastroparesis. Seven, age-matched, healthy volunteers served as controls. Pressure activity from antrum (two sites), duodenum (two sites), and jejunum (one site) was recorded by a low compliance perfusion system connected to external strain gauge transducers. Activity was recorded for three hours during fasting and for two hours after the ingestion of a solid and a liquid meal. To determine whether an inadvertent vagotomy had been performed, basal acid output and the response to insulin (Hollander's test) were measured on a separate day. Manometric studies revealed postprandial hypomotility in these patients, whereas fasting antral and intestinal activities were normal. Acid output increased in all patients during insulin induced hypoglycaemia. In three patients, an antrectomy was subsequently performed, and they were relieved of their symptoms. We conclude that, after fundoplication, symptoms associated with postprandial antral hypomotility may develop in some patients. The pathophysiologic mechanism is unknown, but a positive acid response to insulin induced hypoglycaemia does not support the occurrence of incidental vagotomy. We do not know the prevalence of this motor abnormality among asymptomatic patients with prior fundoplication. A favourable symptomatic response to antrectomy in several of our patients, however, suggests that the symptoms were related to antral motor dysfunction. PMID:6350114

  1. Characterization of an energy storage capacitor in abnormal thermal environments

    SciTech Connect

    Edwards, L.R.; Chen, K.C.; Baron, R.V.

    2000-01-05

    There are applications of high-voltage, energy-storage, capacitors where it is desirable that the energy storage capability can be reliably and predictably negated in abnormal environments such as fire. This property serves as a safety feature to prevent events of unintended consequence. The present paper describes studies of the thermal response characteristics of a cylindrically wound, discrete Mylar film/foil capacitor design. The experimental setups that simulate fires will be presented. Three different heat input geometries were employed: uniform radial input, spot radial input, and axial input. Heat input was controlled via feedback system to maintain specific temperature ramp rates. Both capacitor voltage and current were monitored during the thermal excursion to ascertain the failure temperature, i.e. when the capacitor permanently shorts. Temperature of failure data is presented for the three heat input cases along with a statistical analysis of the results and application implications. The physics of failure will be described in terms of the thermal/mechanical properties of the Mylar.

  2. Epilepsy-induced abnormal striatal plasticity in Bassoon mutant mice.

    PubMed

    Ghiglieri, Veronica; Picconi, Barbara; Sgobio, Carmelo; Bagetta, Vincenza; Barone, Ilaria; Paillè, Vincent; Di Filippo, Massimiliano; Polli, Federica; Gardoni, Fabrizio; Altrock, Wilko; Gundelfinger, Eckart D; De Sarro, Giovambattista; Bernardi, Giorgio; Ammassari-Teule, Martine; Di Luca, Monica; Calabresi, Paolo

    2009-05-01

    Recently, the striatum has been implicated in the spread of epileptic seizures. As the absence of functional scaffolding protein Bassoon in mutant mice is associated with the development of pronounced spontaneous seizures, we utilized this new genetic model of epilepsy to investigate seizure-induced changes in striatal synaptic plasticity. Mutant mice showed reduced long-term potentiation in striatal spiny neurons, associated with an altered N-methyl-D-aspartate (NMDA) receptor subunit distribution, whereas GABAergic fast-spiking (FS) interneurons showed NMDA-dependent short-term potentiation that was absent in wild-type animals. Alterations in the dendritic morphology of spiny neurons and in the number of FS interneurons were also observed. Early antiepileptic treatment with valproic acid reduced epileptic attacks and mortality, rescuing physiological striatal synaptic plasticity and NMDA receptor subunit composition. However, morphological alterations were not affected by antiepileptic treatment. Our results indicate that, in Bsn mutant mice, initial morphological alterations seem to reflect a more direct effect of the abnormal genotype, whereas plasticity changes are likely to be caused by the occurrence of repeated cortical seizures.

  3. Hepatic perfusion abnormalities during CT angiography: Detection and interpretation

    SciTech Connect

    Freeny, P.C.; Marks, W.M.

    1986-06-01

    Twenty-seven perfusion abnormalities were detected in 17 of 50 patients who underwent computed tomographic angiography (CTA) of the liver. All but one of the perfusion abnormalities occurred in patients with primary or metastatic liver tumors. Perfusion abnormalities were lobar in nine cases, segmental in 11, and subsegmental in seven; 14 were hypoperfusion and 13 were hyperperfusion abnormalities. The causes for the abnormalities included nonperfusion of a replaced hepatic artery (n = 11), cirrhosis and nodular regeneration (n = 3), altered hepatic hemodynamics (e.g., siphoning, laminar flow) caused by tumor (n = 7), contrast media washout from a nonperfused vessel (n = 1), compression of adjacent hepatic parenchyma (n = 1), and unknown (n = 4). Differentiation of perfusion abnormalities from tumor usually can be made by comparing the morphology of the known tumor with the suspected perfusion abnormality, changes of each on delayed CTA scans, and review of initial angiograms and other imaging studies.

  4. 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 ...

  5. Residual gait abnormalities in surgically treated spondylolisthesis.

    PubMed

    Shelokov, A; Haideri, N; Roach, J

    1993-11-01

    The authors retrospectively studied seven patients who had in situ fusion as adolescents for high-grade (IV, V) spondylolisthesis unresponsive to more conservative means. All patients achieved solid bony union; their pain was relieved; and hamstring spasm had resolved. The authors sought to determine whether crouch gait or any other abnormalities could be demonstrated in patients exhibiting clinical parameters of success. Each patient underwent gait analysis, radiographic analysis, and a physical examination. Four of seven patients demonstrated slight degrees of forward trunk lean during varying phases of gait accompanied by increased hip flexion. One patient demonstrated increased trunk extension accompanied by limited hip flexion. Two patients were essentially normal. The authors were unable to quantify residual crouch in these patients with solidly fused high-grade spondylolisthesis.

  6. Computed tomography of the abnormal thymus

    SciTech Connect

    Baron, R.L.; Lee, J.K.T.; Sagel, S.S.; Levitt, R.G.

    1982-01-01

    Computed tomography (CT) should be the imaging method of choice following plain chest radiographs when a suspected thymic abnormality requires further evaluation. Based upon a six-year experience, including the evaluation of 25 patients with thymic pathology, CT was found useful in suggesting or excluding a diagnosis of thymoma and in distinguishing thymic hyperplasis from thymoma in patients with myasthenia gravis. The thickness of the thymic lobes determined by CT was found to be a more accurate indicator of infiltrative disease (thymic hyperplasia and lymphoma) than the width. CT was helpful in differentiating benign thymic cysts from solid tumors, and in defining the extent of a thymic neoplasms. On occasion, CT may suggest the specific histologic nature of a thymic lesion.

  7. Abnormal Presentation of Choriocarcinoma and Literature Review

    PubMed Central

    Yousefi, Zohreh; Mottaghi, Mansorhe; Rezaei, Alireza; Ghasemian, Sedighe

    2016-01-01

    Introduction Gestational trophoblastic neoplasms have highly been malignant potential, which usually occurred in child-bearing age women. Unusual feature of this malignancy would be rare, it was important to take in mind the possibility of GTN in different manifestation. Based on the above mentioned, the aim of this presentation would be the management and outcome of a case series of choriocarcinoma patients with abnormal manifestation. Case Presentation We have presented four patients, first who initially manifestation with signs of septic shock, the second case with severe gastrointestinal hemorrhage, the third case with postpartum infection and the forth case was a postmenopausal bleeding patient. Conclusions In case of metastatic choriocarcinoma with precise history, accurate diagnosis and appropriate treatment have led us to curable results. PMID:27482332

  8. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence.

  9. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. PMID:25590398

  10. "Idiopathic" mental retardation and new chromosomal abnormalities

    PubMed Central

    2010-01-01

    Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition. PMID:20152051

  11. [Ultrasonic diagnosis of congenital uterine abnormalities].

    PubMed

    Funk, A; Fendel, H

    1988-01-01

    1-2% of women has abnormal uterine development due to nonunification of the Müllerian ducts in the embryonal period. At the RWTH Aachen, in the department of gynaecology and obstetrics, between January and June 1987, we had searched systematically for maldevelopment of the uterus in 2299 echosonografies. In 13 cases we found maldevelopment of internal genital; 5 of these cases were diagnosed by an echosonografic routine-examination. The echografic criteria of the different grades of uterine malformations have been determined, systematized and discussed in relation to the symptoms. The most frequent malformations as uterus subseptus, uterus septus, uterus bicornis and uterus duplex are subject of a detailed discussion. This work demonstrates that echosonografic is a very efficient instrument to diagnose uterine malformations and gives us a very exact anatomic interpretation of malformations.

  12. Abnormal branch of the testicular artery.

    PubMed

    Bhaskar, P Vijaya; Bhasin, Vishu; Kumar, Sushil

    2006-09-01

    We present a case report of an abnormal course and branching of the right testicular artery, which was uncovered during routine dissection of the abdomen in our first year medical class. It arose from the anterior surface of the abdominal aorta and immediately divided into two branches; one branch coursed inferiorly behind the inferior vena cava as the testicular artery proper, while the other branch passed behind the inferior vena cava and emerged on the anterior surface of the right kidney. After crossing the anterior surface of the kidney, it bifurcated into an ascending branch that went to the right suprarenal gland and a descending branch that ended in the posterior abdominal wall. The left testicular artery was normal in its course and distribution. This is a very rare variation.

  13. Is assisted reproduction associated with abnormal placentation?

    PubMed

    Joy, Jolly; Gannon, Caroline; McClure, Neil; Cooke, Inez

    2012-01-01

    Artificial reproductive technologies (ART) and conception following a period of untreated infertility (>1 year) are independently associated with increased pregnancy complications in both singleton and multiple pregnancies. It is unknown if placental dysfunction associated with macroscopic and/or microscopic histological discrepancies might explain some of these variances. Our aim was to compare the histopathology of placentae from singleton pregnancies belonging to 3 groups, as follows: conception as a result of ART; spontaneous conception (<1 year of trying); and conception following untreated infertility (>1 year). Pathological examination of placentae from singleton pregnancies of nonsmoking, age-matched primiparous women with no significant medical history and no known uterine congenital anomalies was performed by a single pathologist blinded to the groups. Features were compared using analysis of variance and chi-square tests. A total of 89 placental pathology reports were available (control  =  39, infertility  =  17, ART  =  33). The mean placental thickness was significantly higher in the ART group when compared to the spontaneous conception group (P  =  0.02). There were significantly more placental hematomas in the ART group (P  =  0.04) compared to the other groups. There were no significant differences in rates of abnormal placental shapes or abnormal cord insertions. There were no statistically significant differences in the incidence of microscopic placental lesions, nor were there any statistically significant differences in the incidence of macroscopic and microscopic placental lesions between the infertility group and the other groups. Placentae of ART pregnancies show significantly increased thickness and a higher incidence of hematomas. Increased placental thickness has previously been linked to increased perinatal risk.

  14. Karyotypic abnormalities in myelofibrosis following polycythemia vera.

    PubMed

    Andrieux, Joris; Demory, Jean Loup; Caulier, Marie Thérèse; Agape, Philippe; Wetterwald, Marc; Bauters, Francis; Laï, Jean Luc

    2003-01-15

    Polycythemia vera (PV) is a chronic myeloproliferative disease characterized by an increase of total red cell volume; in 10% to 15% of cases, bone marrow fibrosis complicates the course of the disease after several years, resulting in a hematologic picture mimicking myelofibrosis with myelocytic metaplasia (MMM). This condition is known as post polycythemic myelofibrosis (PPMF). Among 30 patients with PPMF followed in Northern France, 27 (90%) expressed one or two abnormal clones in myelocytic cell cultures. Of these, 19 (70%) had partial or complete trisomy 1q. This common anomaly either resulted from unbalanced translocations with acrocentric chromosomes, that is, 13, 14, and 15, or other chromosomes, that is, 1, 6, 7, 9, 16, 19, and Y, or from partial or total duplication of long arm of chromosome 1. A single patient had an isochromosome 1q leading to tetrasomy 1q. In all cases, a common trisomic region spanning 1q21 to 1q32 has been identified. Given that most patients had previously received chemotherapy or radio-phosphorus to control the polycythemic phase of their disease, this study illustrates the increased frequency of cytogenetic abnormalities after such treatments: 90% versus 50% in de novo MMM. Moreover, karyotype can be used to distinguish PPMF-where trisomy 1q is the main anomaly-from primary MMM where trisomy 1q is rare and deletions 13q or 20q are far more common. Whether trisomy 1q is or is not a secondary event remains a matter of debate, as well as the role of cytotoxic treatments. PMID:12645649

  15. Eye-Head Coordination Abnormalities in Schizophrenia

    PubMed Central

    Schwab, Simon; Würmle, Othmar; Razavi, Nadja; Müri, René M.; Altorfer, Andreas

    2013-01-01

    Background Eye-movement abnormalities in schizophrenia are a well-established phenomenon that has been observed in many studies. In such studies, visual targets are usually presented in the center of the visual field, and the subject's head remains fixed. However, in every-day life, targets may also appear in the periphery. This study is among the first to investigate eye and head movements in schizophrenia by presenting targets in the periphery of the visual field. Methodology/Principal Findings Two different visual recognition tasks, color recognition and Landolt orientation tasks, were presented at the periphery (at a visual angle of 55° from the center of the field of view). Each subject viewed 96 trials, and all eye and head movements were simultaneously recorded using video-based oculography and magnetic motion tracking of the head. Data from 14 patients with schizophrenia and 14 controls were considered. The patients had similar saccadic latencies in both tasks, whereas controls had shorter saccadic latencies in the Landolt task. Patients performed more head movements, and had increased eye-head offsets during combined eye-head shifts than controls. Conclusions/Significance Patients with schizophrenia may not be able to adapt to the two different tasks to the same extent as controls, as seen by the former's task-specific saccadic latency pattern. This can be interpreted as a specific oculomotoric attentional dysfunction and may support the hypothesis that schizophrenia patients have difficulties determining the relevance of stimuli. Patients may also show an uneconomic over-performance of head-movements, which is possibly caused by alterations in frontal executive function that impair the inhibition of head shifts. In addition, a model was created explaining 93% of the variance of the response times as a function of eye and head amplitude, which was only observed in the controls, indicating abnormal eye-head coordination in patients with schizophrenia. PMID

  16. Novel pathophysiological cause for post-partum hemorrhage: Case report of post-partum hemorrhage with occult abnormal artery diagnosed on pelvic angiography.

    PubMed

    Iwagaki, Shigenori; Miyazaki, Tatsuhiko; Mizuno, Tomoko; Kondo, Hiroshi; Morishige, Ken-ichirou

    2015-09-01

    To the best of our knowledge, this is the first report of post-partum hemorrhage (PPH) caused by an occult abnormal artery detected shortly after delivery on pelvic angiography (PAG). Initially, a diagnosis of uterine atony was made because the apparent cause of hemorrhage was not detected via the usual obstetrical examination. An abnormal artery, however, was suspected on PAG and confirmed on pathology. This case suggests a novel cause of persistent PPH resistant to obstetric management. Obstetricians should be aware that an abnormal artery may cause PPH, and that radiology may be required for diagnosis. PMID:26017667

  17. Abnormal temporal difference reward-learning signals in major depression.

    PubMed

    Kumar, P; Waiter, G; Ahearn, T; Milders, M; Reid, I; Steele, J D

    2008-08-01

    Anhedonia is a core symptom of major depressive disorder (MDD), long thought to be associated with reduced dopaminergic function. However, most antidepressants do not act directly on the dopamine system and all antidepressants have a delayed full therapeutic effect. Recently, it has been proposed that antidepressants fail to alter dopamine function in antidepressant unresponsive MDD. There is compelling evidence that dopamine neurons code a specific phasic (short duration) reward-learning signal, described by temporal difference (TD) theory. There is no current evidence for other neurons coding a TD reward-learning signal, although such evidence may be found in time. The neuronal substrates of the TD signal were not explored in this study. Phasic signals are believed to have quite different properties to tonic (long duration) signals. No studies have investigated phasic reward-learning signals in MDD. Therefore, adults with MDD receiving long-term antidepressant medication, and comparison controls both unmedicated and acutely medicated with the antidepressant citalopram, were scanned using fMRI during a reward-learning task. Three hypotheses were tested: first, patients with MDD have blunted TD reward-learning signals; second, controls given an antidepressant acutely have blunted TD reward-learning signals; third, the extent of alteration in TD signals in major depression correlates with illness severity ratings. The results supported the hypotheses. Patients with MDD had significantly reduced reward-learning signals in many non-brainstem regions: ventral striatum (VS), rostral and dorsal anterior cingulate, retrosplenial cortex (RC), midbrain and hippocampus. However, the TD signal was increased in the brainstem of patients. As predicted, acute antidepressant administration to controls was associated with a blunted TD signal, and the brainstem TD signal was not increased by acute citalopram administration. In a number of regions, the magnitude of the abnormal

  18. Abnormal temporal difference reward-learning signals in major depression.

    PubMed

    Kumar, P; Waiter, G; Ahearn, T; Milders, M; Reid, I; Steele, J D

    2008-08-01

    Anhedonia is a core symptom of major depressive disorder (MDD), long thought to be associated with reduced dopaminergic function. However, most antidepressants do not act directly on the dopamine system and all antidepressants have a delayed full therapeutic effect. Recently, it has been proposed that antidepressants fail to alter dopamine function in antidepressant unresponsive MDD. There is compelling evidence that dopamine neurons code a specific phasic (short duration) reward-learning signal, described by temporal difference (TD) theory. There is no current evidence for other neurons coding a TD reward-learning signal, although such evidence may be found in time. The neuronal substrates of the TD signal were not explored in this study. Phasic signals are believed to have quite different properties to tonic (long duration) signals. No studies have investigated phasic reward-learning signals in MDD. Therefore, adults with MDD receiving long-term antidepressant medication, and comparison controls both unmedicated and acutely medicated with the antidepressant citalopram, were scanned using fMRI during a reward-learning task. Three hypotheses were tested: first, patients with MDD have blunted TD reward-learning signals; second, controls given an antidepressant acutely have blunted TD reward-learning signals; third, the extent of alteration in TD signals in major depression correlates with illness severity ratings. The results supported the hypotheses. Patients with MDD had significantly reduced reward-learning signals in many non-brainstem regions: ventral striatum (VS), rostral and dorsal anterior cingulate, retrosplenial cortex (RC), midbrain and hippocampus. However, the TD signal was increased in the brainstem of patients. As predicted, acute antidepressant administration to controls was associated with a blunted TD signal, and the brainstem TD signal was not increased by acute citalopram administration. In a number of regions, the magnitude of the abnormal

  19. Autopsy observations in lethal short-rib polydactyly syndromes.

    PubMed

    Okiro, Patricia; Wainwright, Helen; Spranger, Jürgen; Beighton, Peter

    2015-01-01

    The short rib-polydactyly syndromes are a heterogeneous group of lethal autosomal recessive disorders (SRP I-IV), which result from cellular ciliary dysfunction during embryogenesis. Diagnosis is conventionally based on radiographic imaging. Since 1976, postmortem investigations of 5 affected fetuses or stillbirths have been undertaken and the visceral abnormalities have been documented. These anomalies are discussed in the context of prenatal differential diagnosis and prognostication following imaging in pregnancy and at autopsy following miscarriage or stillbirth.

  20. Short QT Syndrome – Review of Diagnosis and Treatment

    PubMed Central

    Schimpf, Rainer; Borggrefe, Martin

    2014-01-01

    Short QT syndrome (SQTS) is an inherited cardiac channelopathy characterised by an abnormally short QT interval and increased risk for atrial and ventricular arrhythmias. Diagnosis is based on the evaluation of symptoms (syncope or cardiac arrest), family history and electrocardiogram (ECG) findings. Mutations of cardiac ion channels responsible for the repolarisation orchestrate electrical heterogeneity during the action potential and provide substrate for triggering and maintaining of tachyarrhythmias. Due to the malignant natural history of SQTS, implantable cardioverter defibrillator (ICD) is the first-line therapy in affected patients. This review summarises current data and addresses the genetic basis and clinical features of SQTS. PMID:26835070

  1. Clinical correlates of MRI white matter abnormalities in schizophrenia.

    PubMed

    Hoptman, J Matthew

    2010-01-01

    Schizophrenia is a severe psychiatric illness that can be accompanied by positive symptoms, negative symptoms, and cognitive dysfunctions in most cognitive domains. Neuroimaging studies have focused on understanding the relationship between schizophrenia and brain abnormalities. Most of these have focused on the well-documented gray matter abnormalities. However, emphasis has recently been placed on white matter abnormalities associated with the disorder. A number of studies have found reduced white matter volumes in schizophrenia and abnormalities in genes associated with white matter. The clinical significance of these abnormalities is just beginning to be understood. The advent of diffusion tensor imaging (DTI) has been particularly important in this regard, as it allows us to draw inferences regarding the organization of white matter in the brain. In this article, I will review recent work showing clinical correlates of neuroimaging-based white matter abnormalities in schizophrenia.

  2. Abnormality degree detection method using negative potential field group detectors

    NASA Astrophysics Data System (ADS)

    Zhang, Hongli; Liu, Shulin; Li, Dong; Shi, Kunju; Wang, Bo; Cui, Jiqiang

    2015-09-01

    Online monitoring methods have been widely used in many major devices, however the normal and abnormal states of equipment are estimated mainly based on the monitoring results whether monitored parameters exceed the setting thresholds. Using these monitoring methods may cause serious false positive or false negative results. In order to precisely monitor the state of equipment, the problem of abnormality degree detection without fault sample is studied with a new detection method called negative potential field group detectors(NPFG-detectors). This method achieves the quantitative expression of abnormality degree and provides the better detection results compared with other methods. In the process of Iris data set simulation, the new algorithm obtains the successful results in abnormal detection. The detection rates for 3 types of Iris data set respectively reach 100%, 91.6%, and 95.24% with 50% training samples. The problem of Bearing abnormality degree detection via an abnormality degree curve is successfully solved.

  3. Pathogenesis and management of abnormal puberty.

    PubMed

    Hopwood, N J

    1985-01-01

    In the prepubertal child, the hypothalamic-pituitary-gonadal (H-P-G) axis is functional and extremely sensitive to negative feedback inhibition by low circulating levels of sex steroids. This feedback system may be under the control of unknown CNS inhibitory mechanisms. Clinical signs of puberty are preceded by increased pulsatile secretion of hypothalamic gonadotropin-releasing hormone (GnRH) followed by increased pituitary responsiveness to GnRH. Gonadotropin secretion, particularly LH, increases in both sexes, especially during sleep, resulting in gonadal stimulation, secretion of sex steroids, and progressive physical maturation. When any phase of the H-P-G axis malfunctions, abnormal puberty can result. Abnormal puberty may be precocious or delayed. When puberty is precocious it may be isosexual or heterosexual, complete or partial, intermittent (unsustained), or progressive. True (central) precocious puberty is usually progressive, and hormonally reflective of normal puberty, although occurring at an earlier age, whereas intermittent or unsustained precocious puberty usually is associated with immature patterns of gonadotropin secretion, or with complete gonadotropin suppression as in precocious pseudopuberty (ovarian or adrenal tumors). Cranial axial tomography, gonadotropin response to GnRH, and pelvic ultrasound in girls are useful tools to aid in the differential diagnosis of these conditions. Intermittent, or unsustained, puberty in girls is usually self-limited, requiring no medical or surgical intervention. True progressive central precocity may now be managed with GnRH analogues, which effectively arrest pubertal changes as well as slow rapid linear growth and skeletal maturation. Although a maturation lag usually explains most patterns of delayed puberty, it is often challenging to exclude other conditions that may contribute to slow pubertal progression, such as chronic illness, excessive exercise, emotional stress, anorexia, or drug use. Elevated

  4. 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)

  5. Myelodysplastic syndromes: pathogenesis, functional abnormalities, and clinical implications.

    PubMed Central

    Jacobs, A

    1985-01-01

    The myelodysplastic syndromes represent a preleukaemic state in which a clonal abnormality of haemopoietic stem cell is characterised by a variety of phenotypic manifestations with varying degrees of ineffective haemopoiesis. This state probably develops as a sequence of events in which the earliest stages may be difficult to detect by conventional pathological techniques. The process is characterised by genetic changes leading to abnormal control of cell proliferation and differentiation. Expansion of an abnormal clone may be related to independence from normal growth factors, insensitivity to normal inhibitory factors, suppression of normal clonal growth, or changes in the immunological or nutritional condition of the host. The haematological picture is of peripheral blood cytopenias: a cellular bone marrow, and functional abnormalities of erythroid, myeloid, and megakaryocytic cells. In most cases marrow cells have an abnormal DNA content, often with disturbances of the cell cycle: an abnormal karyotype is common in premalignant clones. Growth abnormalities of erythroid or granulocyte-macrophage progenitors are common in marrow cultures, and lineage specific surface membrane markers indicate aberrations of differentiation. Progression of the disorder may occur through clonal expansion or through clonal evolution with a greater degree of malignancy. Current attempts to influence abnormal growth and differentiation have had only limited success. Clinical recognition of the syndrome depends on an acute awareness of the signs combined with the identification of clonal and functional abnormalities. PMID:2999194

  6. Abnormal behavior in caged birds kept as pets.

    PubMed

    van Hoek, C S; ten Cate, C

    1998-01-01

    There are a limited number of studies dealing with abnormal behavior in caged birds kept as pets. However, these studies demonstrate the presence of abnormal behavior in both songbirds and parrots. Ethological studies on these birds, as well as studies on domestic and zoo birds, indicate that inappropriate rearing and housing conditions may lead to behavioral abnormalities. Together these data indicate that behavioral abnormalities occur among both wild-caught and domesticated pet birds. The severity and magnitude of these abnormalities is probably underestimated, and there is a need for systematic studies on the nature, origin, variability, species-specificity, and reversibility of behavioral problems in pet birds. Abnormal behavior in caged birds may to some extent be prevented and reduced by environmental enrichment. However, most enrichment studies are anecdotal and not based on a thorough analysis of the behavioral abnormalities, which may lead to measures resulting in a reduction of symptoms rather than the underlying causes. Although it is likely that several of these problems could be reduced by modifying rearing and housing conditions, the current insights into the causal mechanisms underlying abnormal behavior of domesticated and wild-caught pet birds are limited, as are the insights into the possibilities of preventing or curing abnormal behavior.

  7. Prenatal imaging of distal limb abnormalities using OCT in mice

    NASA Astrophysics Data System (ADS)

    Larina, Irina V.; Syed, Saba H.; Dickinson, Mary E.; Overbeek, Paul; Larin, Kirill V.

    2012-01-01

    Congenital abnormalities of the limbs are common birth defects. These include missing or extra fingers or toes, abnormal limb length, and abnormalities in patterning of bones, cartilage or muscles. Optical Coherence Tomography (OCT) is a 3-D imaging modality, which can produce high-resolution (~8 μm) images of developing embryos with an imaging depth of a few millimeters. Here we demonstrate the capability of OCT to perform 3D imaging of limb development in normal embryos and a mouse model with congenital abnormalities. Our results suggest that OCT is a promising tool to analyze embryonic limb development in mammalian models of congenital defects.

  8. Abnormal grain growth in Ni-5at.%W

    NASA Astrophysics Data System (ADS)

    Witte, M.; Belde, M.; Barrales Mora, L.; de Boer, N.; Gilges, S.; Klöwer, J.; Gottstein, G.

    2012-12-01

    The growth of abnormally large grains in textured Ni-5at.%W substrates for high-temperature superconductors deteriorates the sharp texture of these materials and thus has to be avoided. Therefore the growth of abnormal grains is investigated and how it is influenced by the grain orientation and the annealing atmosphere. Texture measurements and grain growth simulations show that the grain orientation only matters so far that a high-angle grain boundary exists between an abnormally growing grain and the Cube-orientated matrix grains. The annealing atmosphere has a large influence on abnormal grain growth which is attributed to the differences in oxygen partial pressure.

  9. Abnormal high density lipoproteins in cerebrotendinous xanthomatosis

    SciTech Connect

    Shore, V.; Salen, G.; Cheng, F.W.; Forte, T.; Shefer, S.; Tint, G.S.

    1981-11-01

    The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX). The mean HDL-cholesterol concentration in the CTX plasmas was 14.5 +/- 3.2 mg/dl, about one-third the normal value. The low HDL-cholesterol reflects a low concentration and an abnormal lipid composition of the plasma HDL. Relative to normal HDL, the cholesteryl esters are low, free cholesterol and phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII was high, the proportion of apoC low, and a normally minor form of apoAI increased relative to other forms. The HDL in electron micrographs appeared normal morphologically and in particle size. The adnormalities in lipoprotein distribution profiles and composition of the plasma HDL result from metabolic defects that are not understood but may be linked to the genetic defect in bile acid synthesis in CTX. As a consequence, it is probable that the normal functions of the HDL, possibly including modulation of LDL-cholesterol uptake and the removal of excess cholesterol from peripheral tissues, are perturbed significantly in this disease.

  10. Coagulation abnormalities in the cirrhotic patient.

    PubMed

    Muciño-Bermejo, Jimena; Carrillo-Esper, Raúl; Uribe, Misael; Méndez-Sánchez, Nahum

    2013-01-01

    The clotting process is a dynamic array of multiple processes which can be described in four phases: platelet plug initiation and formation, clotting process propagation by the coagulation cascade, clotting termination by antithrombotic mechanisms and clot removal by fibrinolysis. The liver plays a central role in each of these phases of clotting process, as it synthesizes the majority of coagulation factors and proteins involved in fibrinolysis as well as thrombopoeitin, which is responsible for platelet production from megakaryocytes. Many pathological processes associated with cirrhosis, such as portal hypertension and endothelial dysfunction, as well as co-morbid conditions, may also alter the coagulation process. Consequently, patients with liver disease have a disturbed balance of procoagulant and anti-coagulant factors which deviates from the normal coagulation cascade. This situation poses an additional problem in the diagnostic and therapeutic approach to this group of patients, since traditional coagulation test may not be reliable for assessing bleeding or thrombotic risk and traditional transfusional strategies may not be applicable in cirrhotic patients. In this article, we review the pathophysiological bases of coagulation abnormalities, in cirrhotic patients, the diagnostic therapeutic strategies to be followed and its impact on the clinical outcome in the cirrhotic patient.

  11. Liver abnormalities in connective tissue diseases.

    PubMed

    De Santis, Maria; Crotti, Chiara; Selmi, Carlo

    2013-08-01

    The liver is a lymphoid organ involved in the immune response and in the maintenance of tolerance to self molecules, but it is also a target of autoimmune reactions, as observed in primary liver autoimmune diseases (AILD) such as autoimmune hepatitis, primary biliary cirrhosis, and primary sclerosing cholangitis. Further, the liver is frequently involved in connective tissue diseases (CTD), most commonly in the form of liver function test biochemical changes with predominant cholestatic or hepatocellular patterns. CTD commonly affecting the liver include systemic lupus erythematosus, antiphospholypid syndrome, primary Sjögren's syndrome, systemic sclerosis, dermatomyositis, polimyositis, and anti-synthetase syndrome, while overlap syndromes between AILD and CTD may also be diagnosed. Although liver cirrhosis and failure are extremely rare in patients with CTD, unusual liver conditions such as nodular regenerative hyperplasia or Budd-Chiari syndrome have been reported with increasing frequency in patients with CTD. Acute or progressing liver involvement is generally related to viral hepatitis reactivation or to a concomitant AILD, so it appears to be fundamental to screen patients for HBV and HCV infection, in order to provide the ideal therapeutic regimen and avoid life-threatening reactivations. Finally, it is important to remember that the main cause of biochemical liver abnormalities in patients with CTD is a drug-induced alteration or coexisting viral hepatitis. The present article will provide a general overview of the liver involvement in CTD to allow rheumatologists to discriminate the most common clinical scenarios.

  12. Imaging findings in fetal diaphragmatic abnormalities.

    PubMed

    Alamo, Leonor; Gudinchet, François; Meuli, Reto

    2015-12-01

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. PMID:26255159

  13. Surrogate Motherhood and Abortion for Fetal Abnormality.

    PubMed

    Walker, Ruth; van Zyl, Liezl

    2015-10-01

    A diagnosis of fetal abnormality presents parents with a difficult - even tragic - moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide - the pregnant woman - does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate's right to decide whether to undergo an abortion, and the intended parents' obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making. PMID:25688455

  14. Electrocardiogram abnormalities in captive chimpanzees (Pan troglodytes).

    PubMed

    Doane, Cynthia J; Lee, D Rick; Sleeper, Meg M

    2006-12-01

    Although cardiovascular disease is the leading cause of death in the captive chimpanzee population, little is known about the prevalence and etiology of heart disease in this species. We reviewed the physical exam records of 265 common chimpanzees (Pan troglodytes) for electrocardiogram abnormalities. During the 24-mo period reviewed (August 2003 through August 2005), 34 animals were diagnosed with cardiac arrhythmias consisting of ventricular arrhythmias, supraventricular arrhythmias, conduction disturbances, mixed arrhythmias, and bradycardia. The incidence of cardiac arrhythmia was significantly higher in male animals, chimpanzees 20 to 39 y old, and those with structural heart disease. Incidence of cardiac arrhythmia was not significantly higher in animals with hypertension, hyperlipidemia, or chronic viral infections. During the retrospective period, 7 animals with cardiac arrhythmias died or were euthanized. Mortality was significantly higher in animals with ventricular arrhythmias compared with those without ventricular arrhythmias. We conclude that in the common chimpanzee, age, male gender, and structural heart disease are risk factors for developing cardiac arrhythmias and that ventricular arrhythmias are risk factors for mortality. PMID:17219782

  15. Abnormal membrane sodium transport in Liddle's syndrome.

    PubMed

    Gardner, J D; Lapey, A; Simopoulos, P; Bravo, E L

    1971-11-01

    We have documented the presence of abnormal sodium transport in Liddle's syndrome by measuring sodium concentration, sodium influx, and fractional sodium outflux in vitro in erythrocytes from normal subjects, two patients with Liddle's syndrome, and one patient with primary hyperaldosteronism. Sodium influx and fractional sodium outflux, but not sodium concentration, were significantly increased in patients with Liddle's syndrome. Sodium outflux in a patient with primary hyperaldosteronism did not differ significantly from normal. These alterations of sodium transport in erythrocytes from patients with Liddle's syndrome were not attributable to circulating levels of aldosterone, renin, angiotensin, or serum potassium. Furthermore, changes in aldosterone secretory rate and levels of circulating renin produced by varying dietary sodium intake, did not alter sodium influx or fractional sodium outflux in either patients with Liddle's syndrome or normal subjects. The response of fractional sodium outflux and sodium influx to ouabain, ethacrynic acid, and to changes in the cation composition of the incubation medium suggests that the increased sodium fluxes in Liddle's syndrome do not result solely from a quantitative increase in those components of sodium transport which occur in normal human erythrocytes. Instead, at least a portion of the increased erythrocyte sodium transport in Liddle's syndrome represents a component of sodium transport which does not occur in normal human erythrocytes.

  16. Nuclear abnormalities of marine fish erythrocytes.

    PubMed

    Strunjak-Perovic, I; Topic Popovic, N; Coz-Rakovac, R; Jadan, M

    2009-07-01

    The aim of this study was to monitor erythrocyte nuclear abnormalities (NA) including micronuclei (MN) in cultured and wild sea bass Dicentrarchus labrax and wild mullet Mugil spp. Seasonal sampling was performed at seven locations along the eastern coast of the Adriatic Sea. The frequency of NA and MN was positively correlated to temperature (NA: P < 0.05, r = 0.11; MN P < 0.05, r = 0.10), and there was also a positive correlation between NA and MN frequency (P < 0.001, r = 0.43). The lowest NA and MN values for both fish species were recorded in spring, while the highest were recorded in autumn. Significantly higher frequency of NA was seen in D. labrax compared to Mugil spp., while MN frequency was low in both species and not significantly different. There was no significant difference in NA and MN frequency between cultured and wild D. labrax sampled in the same month, and there was no difference between wild Mugil spp. sampled near or far from fish farms. In view of sampling sites, the highest values were detected in fishes from the Limski Channel, the lowest from the Janjina location.

  17. Thyroid abnormalities after therapeutic external radiation

    SciTech Connect

    Hancock, S.L.; McDougall, I.R.; Constine, L.S.

    1995-03-30

    The thyroid gland is the largest pure endocrine gland in the body and one of the organs most likely to produce clinically significant abnormalities after therapeutic external radiation. Radiation doses to the thyroid that exceed approximately 26 Gy frequently produce hypothyroidism, which may be clinically overt or subclinical, as manifested by increased serum thyrotropin and normal serum-free thyroxine concentrations. Pituitary or hypothalamic hypothyroidism may arise when the pituitary region receives doses exceeding 50 Gy with conventional, 1.8-2 Gy fractionation. Direct irradiation of the thyroid may increase the risk of Graves` disease or euthyroid Graves` ophthalmopathy. Silent thyroiditis, cystic degeneration, benign adenoma, and thyroid cancer have been observed after therapeutically relevant doses of external radiation. Direct or incidental thyroid irradiation increases the risk for well-differentiated, papillary, and follicular thyroid cancer from 15- to 53-fold. Thyroid cancer risk is highest following radiation at a young age, decreases with increasing age at treatment, and increases with follow-up duration. The potentially prolonged latent period between radiation exposure and the development of thyroid dysfunction, thyroid nodularity, and thyroid cancer means that individuals who have received neck or pituitary irradiation require careful, periodic clinical and laboratory evaluation to avoid excess morbidity. 39 refs.

  18. Behavioral abnormalities in progressive supranuclear palsy.

    PubMed

    Gerstenecker, Adam; Duff, Kevin; Mast, Benjamin; Litvan, Irene

    2013-12-30

    Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder in which, classically, patients present with postural instability and falls, parkinsonism, and slowing of vertical saccades. PSP patients typically have deficits in cognitive functioning, difficulties with most daily activities, and present with notable behavioral disturbances-particularly apathy, impulsivity, and irritability. Using data from 154 patients meeting criteria for clinically probable PSP, domain and total scores of the Neuropsychiatric Inventory were examined and compared to demographics, disease severity, cognition, and motor features. Behavioral abnormalities were common in this cohort of PSP patients, with more than half experiencing apathy, depression, and sleeping problems, and approximately one third displaying agitation, irritability, disinhibition, and eating problems. Few clinical correlates of neuropsychiatric symptoms were observed in this cohort. Given the prevalence of neuropsychiatric symptoms in PSP, these patients are expected to be frequently seen by psychiatrists and other mental health professionals for symptom management and increased quality of life. Clinical trials are clearly needed to address the neuropsychiatric morbidity in these patients.

  19. Surrogate Motherhood and Abortion for Fetal Abnormality.

    PubMed

    Walker, Ruth; van Zyl, Liezl

    2015-10-01

    A diagnosis of fetal abnormality presents parents with a difficult - even tragic - moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide - the pregnant woman - does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate's right to decide whether to undergo an abortion, and the intended parents' obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making.

  20. Salivary abnormalities in Prader-Willi Syndrome

    SciTech Connect

    Hart, S.; Poshva, C.

    1994-09-01

    Although abnormal saliva is a well documented finding in PWS, little is known about the saliva in these individuals. We have recently undertaken a study to characterize the salivary composition from PW patients and to see if there is any correlation with their underlying molecular diagnosis (deletion vs. disomy). We have collected whole saliva on 3 patients; 2 had normal high-resolution karyotype analysis (Cases 1 & 3) and 1 had a deletion of 15q11q13 (Case 3). For all parameters, Case 3`s values were notably different from those of his unaffected sibling. The salivary flow rates and concentrations for all 3 PW patients are similar and are significantly different from normal controls (mean {plus_minus} SE) (p<0.05). Although this data is from only 3 PW patients, it provides valuable information. First, decreased flow appears to be due to an effect of PWS and not medications since Cases 2 & 3 are not on any medications. Second, decreased flow appears to be present in younger as well as older individuals. Third, deviations from normal in the salivary composition are evident. It is possible that these alterations are concentration effects relative to a decrease in flow rate. We are currently obtaining saliva from more PW individuals to see if these alterations are present in all PW patients and whether they can be applied as a screening test.