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Sample records for familial short stature

  1. Short stature

    Science.gov (United States)

    ... condition. Bone or skeletal disorders, such as: Rickets Achondroplasia Chronic diseases, such as: Asthma Celiac disease Congenital ... growth seems slow or your child seems small. TREATMENT Your child's short stature may affect her self- ...

  2. Idiopathic short stature

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    Vlaški Jovan

    2013-01-01

    Full Text Available Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment, which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients’ genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l, without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3 or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.

  3. Imaging in short stature

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    Vikas Chaudhary

    2012-01-01

    Full Text Available 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.

  4. Childhood Short Stature

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    J.Ray

    2012-07-01

    Full Text Available Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary. Use growth chart & asses bone age during evaluation. Short & heavy child are generally due to Endocrine causes, Short & thin are due to systemic disease, Short with normal velocity are may be due to Constitutional delay in growth &puberty or Familial short stature, differentiation can be done by Bone Age. In Girls Turner syndrome has to be kept in mind. Purpose of evaluation to find out the child who does not need treatment, who cannot be treated & the child who can be benefited from treatment.

  5. Childhood Short Stature

    OpenAIRE

    Ray, J.

    2012-01-01

    Childhood short stature comprises Varity of endocrinal, systemic, Skeletal & genetic disorders of pediatrics and is not just confined for endocrinal disorder only. A systemic approach often reduces the need for test which is often expensive &unnecessary. Use growth chart & asses bone age during evaluation. Short & heavy child are generally due to Endocrine causes, Short & thin are due to systemic disease, Short with normal velocity are may be due to Constitutional delay in growth &puberty or ...

  6. Idiopathic short stature.

    Science.gov (United States)

    Pasquino, A M; Albanese, A; Bozzola, M; Butler, G E; Buzi, F; Cherubini, V; Chiarelli, F; Cavallo, L; Drop, S L; Stanhope, R; Kelnar, C J

    2001-07-01

    Idiopathic short stature (ISS) is a term used to describe the status of children with short stature that cannot be attributed to a specific cause. Many children diagnosed as having ISS have partial GH insensitivity, which can result from disturbances at various points of the GH-IGF-I axis. Several clinical studies on spontaneous growth in ISS showed that adult height was almost in the range of target height. GH treatment led to adult height not significantly higher than the pretreatment predicted adult height in most reports. No metabolic side effects have been observed, even when the dose was higher than in GH deficiency. Manipulation of puberty with gonadotrophin releasing hormone analogues reported by a few authors in a small number of children has shown conflicting results. Long-term psychological benefits of GH therapy for short normal children have not been demonstrated to date.

  7. Evaluation of Short and Tall Stature in Children.

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    Barstow, Craig; Rerucha, Caitlyn

    2015-07-01

    Short stature is defined as a height more than two standard deviations below the mean for age (less than the 3rd percentile). Tall stature is defined as a height more than two standard deviations above the mean for age (greater than the 97th percentile). The initial evaluation of short and tall stature should include a history and physical examination, accurate serial measurements, and determination of growth velocity, midparental height, and bone age. Common normal variants of short stature are familial short stature, constitutional delay of growth and puberty, and idiopathic short stature. Pathologic causes of short stature include chronic diseases; growth hormone deficiency; and genetic disorders, such as Turner syndrome. Tall stature has the same prevalence as short stature, but it is a much less common reason for referral to subspecialty care. Common causes of tall stature include familial tall stature, obesity, Klinefelter syndrome, Marfan syndrome, and precocious puberty. Although most children with short or tall stature have variants of normal growth, children who are more than three standard deviations from the mean for age are more likely to have underlying pathology. Evaluation for pathologic etiologies is guided by history and physical examination findings.

  8. Etiology of Short Stature in East Azerbaijan, Iran

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    Alireza Nikzad

    2009-03-01

    Full Text Available Objective: Short stature is a common problem encountered by pediatricians and is the most common cause for referral to pediatric endocrinologists. Although most children referred with short stature are normal and classified as normal variants of stature (constitutional growth delay and familial short stature, it may sometimes be the only obvious manifestation of an endocrine or systemic disease. The objective of this study was to assess the characteristics of patients referred to pediatric endocrinology clinic because of short stature and determination of the etiology.Methods: Three hundred-seventy nine children and adolescents were studied which referred with short stature to pediatric endocrinology clinic. After complete clinical and paraclinical evaluation and appropriate treatment (if needed, patients were followed for at least six months.Findings: From 379 studied patients with a mean age of 9.7±3.7 years, 192 (50.7% were girls and 187 (49.3% boys (P=0.066; short stature in 132 (34.8% of patients was not approved. Normal variants of Short stature (familial and constitutional constituted 53.3% of etiology in short patients. In 11.5% of short patients, no obvious etiology was found, and 9.8% were born with intra uterine growth retardation. Other causes were growth hormone deficiency, hypothyroidism, skeletal dysphasia, Turner syndrome, and malnutrition.Conclusion: A great number of children and adolescents referred with short stature to pediatric endocrinology clinics are not really short. Greater than half of short patients are normal variants of Short stature.

  9. Evaluation of the Child with Short Stature

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    Holmes, S. Bruce

    1990-01-01

    The author reviews the various causes of short stature in childhood. The different patterns of growth seen with each of these conditions are emphasized, as an understanding of these patterns is essential to diagnosis. Short stature is a frequent finding in childhood, with endocrine causes being relatively rare.

  10. Growing up with short stature : Psychosocial consequences of hormone treatment

    NARCIS (Netherlands)

    Visser-van Balen, J.

    2007-01-01

    Growing up with short stature. Psychosocial consequences of hormone treatment To enhance height in children with short stature, growth hormone (GH) can be used. In short children without a detectable pathology underlying their short stature, there is no medical rationale for growth hormone treatment

  11. Idiopathic Short Stature: Conundrums of Definition and Treatment

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    Arlan L. Rosenbloom

    2009-01-01

    Full Text Available 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.

  12. Short stature and functional impairment: a systematic review.

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    Wheeler, Patricia G; Bresnahan, Karen; Shephard, Barbara A; Lau, Joseph; Balk, Ethan M

    2004-03-01

    To review the available evidence on the association between primary short stature and intellectual and physical dysfunction among children. Systematic searches were performed through October 2001 of English-language studies of children with short stature and functional limitations. Included studies evaluated children with isolated short stature, constitutional growth delay, growth hormone deficiency, or multiple hormone deficiency. Evaluated outcomes included intelligence, academic achievement, visual-motor skills, psychomotor development, and behavior problems. Eleven studies evaluated academic achievement, and 22 evaluated intelligence. No substantial deviation from normal was seen among short children, but many studies found that children with short stature had significantly lower intelligence and academic achievement scores than controls. Three studies found significant visual-motor skill reduction among short children. One study of psychomotor development found a delay in meeting early developmental landmarks among children with Russell-Silver syndrome. Five studies evaluating teacher-rated behavior found that short children had no more behavior problems than controls. While, on average, children with short stature score lower than their peers on functional tests, few short children scored outside the normal range. Furthermore, there is no evidence to explain the cause of any deficits, and limited data suggest that treatment of short stature does not improve children's functional status. Nevertheless, treatment may be warranted in children with severe short stature to alleviate restrictions on activities of daily living. Further research focusing on physical limitations due to short stature is needed to address these issues.

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

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    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.

  14. Diagnostic Accuracy of Growth Rate in Differentiating Etiologies of Short Stature in Children

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    Mohammad Reza Alaei

    2016-08-01

    Full Text Available Background  Short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. This study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. Materials and Methods All children between the ages of 2 and 18 years who visited in pediatric endocrinology clinic in a five years period were recruited in a prospective cohort study. Children with standing height Results One hundred forty three patients fulfilled the inclusion criteria. Mean follow up period was 14.4±10.9 months. Etiologies of short stature were: constitutional growth delay (CGD 46.9%, familial short stature (FSS 28.7%, hypothyroidism 4.2%, growth hormone deficiency (GHD 4.2% and miscellaneous causes in 16% of patients.  Mean Z- score for children with constitutional growth delay was -2.3±0.69, in familial short stature was -2.3±0.65 and for other condition was -2.7±1.49. There was a meaningful statistical correlation between growth rate and etiology of short stature (P0.05. Conclusion There was significant difference in growth rate between children with constitutional growth delay and familial short stature in comparing to short stature due to endocrine problem and other etiologies. Assessment of growth rate has some utility in diagnosing the etiology of short stature.

  15. Psychological functioning in idiopathic short stature.

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    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.

  16. SHORT STATURE: WHA T IS THE CAUSE IN OUR POPULATION.

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    Ullah, Fahim; Ghaffar, Tahir; Afridi, Ayesha Khan; Ali, Ashfaq; Aamir, Aziz ul hasan

    2016-01-01

    Globally children and adolescents with growth failure are referred to specialized units for evaluation and management. We designed this study to determine the cause of short stature in children and adolescents referred to our endocrine unit for evaluation and further management. This descriptive cross sectional study was performed in the Department of Endocrine, Diabetes and Metabolic Diseases, Hayatabad Medical Complex, Peshawar. Children and adolescents between 2-20 years with height below 2 SDS or less then 3rd percentile for their age and gender were included while those with kyphoscoliosis, thalassemia major, diabetes mellitus type-1 were excluded. Detailed history was obtained followed by detailed physical examination and a pre-set penal of investigations. Seventy-three children with mean chronological age of 11.75.3 ± 4.06 years, 56.31% boys and 43.83% girls (p < 0.05) were included. Mean height was 117.28 ± 17.55 cm, -4.23 ± 2.06 SDS below for this population age group. Mean parental height was 156.87 ± 11.82 cm, mean bone age was 8.56 ± 4.03 years while mean bone age delay was 3.23 ± 1.94 years. Common causes found were variants of normal growth present in 38.35%. Constitutional Delay of Growth and Puberty (CDGP) were found in 13.7%, Familial Short Stature (FSS) in 11.0% while overlapping features of both in other 13.7%. Isolated Growth Hormone Deficiency (GHD) was found in 23.3%, primary hypothyroidism in 9.6% and pan- hypopituitarism in 2.7%. Common non endocrine causes found were Turner's syndrome, rickets, chronic anaemia, bronchial asthma and achondroplasia. Isolated GHD, CDGP and FSS, primary hypothyroidism and Turner's syndrome are the most common causes of short stature in our set up.

  17. Chromosome abnormalities in Indonesian patients with short stature

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    Paramayuda Chrysantine

    2012-08-01

    Full Text Available Abstract Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40 and autosomal abnormalities in 10% (4/40, whereas those with short stature only, 42.1% (24/57 had sex chromosome abnormalities and 1.75% (1/57 had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14(q10;q10. Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

  18. Follow-up of children and adolescents with short stature: the importance of the growth rate

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    Maria Wany Louzada Strufaldi

    Full Text Available CONTEXT AND OBJECTIVE: Short stature is defined as a height of more than two standard deviations below the average for a given age and sex in a reference population. The objective was to describe follow-up conducted among short-stature children and adolescents. DESIGN AND SETTING: Descriptive study, at the Growth outpatient clinic, Department of Pediatrics, Universidade Federal de São Paulo. METHODS: The study included 152 patients aged 2 to 15 years who had height for age of less than P5, on the National Center for Health Statistics curve. The children underwent nutritional evaluation, and several variables relating to height and growth rate were calculated to establish etiological diagnosis. Bone age was evaluated by X-ray. RESULTS: The majority (63.2% were male. In 77.8%, the stature observed was within the family pattern. Among the 99 patients followed up for more than 6 months, 17.2% presented inadequate growth rates. The preponderant etiological diagnosis for short stature was familial/constitutional in 58.6% of the cases; 27 patients (34.2% with adequate growth rate presented bone age alterations. Even with inadequate growth rates, 75% of such patients had a normal result from growth hormone stimulation testing. Close to 90% of patients with a diagnosis of short stature of familial/constitutional origin and intrauterine growth retardation presented adequate growth rate. The genetic etiology was significantly characteristic of patients with inadequate growth rate. CONCLUSION: Growth rate assessment must form part of the investigation and follow-up of short-stature cases. However, its utilization and validity should form part of an overall view of each patient.

  19. MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

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    Wit, Jan M; Oostdijk, Wilma; Losekoot, Monique; van Duyvenvoorde, Hermine A; Ruivenkamp, Claudia A L; Kant, Sarina G

    2016-04-01

    The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFκB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in ∼3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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

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    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.

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

    OpenAIRE

    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,...

  2. A rare case of short stature: Say Meyer syndrome

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    T S Karthik

    2013-01-01

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

  3. Evaluation of referrals for genetic investigation of short stature in Hong Kong

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    Objective To establish a profile of the causes of apparently unexplained SS in genetic referral center and evaluate the current referral system. Methods This was a retrospective database survey on patients who were referred our clinical genetic service from 1988-1998 primarily because of SS. We retrieved the study population from our computer database using "short stature" as a search handle and then studied the demographic, clinical and laboratory data from their medical records. Results Three hundred and fifty-three subjects were referred for genetic evaluation of SS in 1988-1998. The mean age of referred subjects was 11.5 years and the female to male ratio was 7.6. All referrals had undergone cytogenetic studies to exclude chromosomal abnormalities, 19% of girls with apparently unexplained short stature had Turner syndrome; at least 47.9% of the study population were normal variants and 25% of the referrals had inadequate information for classification.Conclusions Genetic investigation is essential in the management of patients with SS, especially for girls suspected of having Turner syndrome, in which growth hormone treatment has shown to improve final height. We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short stature, and discussed the drawbacks of the current referral system.

  4. Prevalence of SHOX Haploinsufficiency among Short Statured Children

    DEFF Research Database (Denmark)

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

    2017-01-01

    children had decreased height -2.85 (0.6) SDS (mean, (SD)) and weight -2.15 (1.36) SDS, pheight/height ratio was increased, p=0.04. Madelung deformity was diagnosed in three patients. Mean height was -2.9 (0.4) SDS at baseline and increased by 0.25 (0.2) SDS, p......=0.046, after one year of GH treatment. CONCLUSION: The prevalence of SHOX haploinsufficiency was 1.7%. The clinical findings indicating SHOX haploinsufficiency among the nine children were disproportionate short stature and forearm anomalies....

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

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

    2016-06-01

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

  6. Hyperphagic short stature: A case report and review of literature

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    Varsha S Jagtap

    2012-01-01

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

  7. 45,X/47,XXX Mosaicism and Short Stature.

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

    2015-01-01

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

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

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    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.

  9. 45,X/46,XY mosaicism: a cause of short stature in males.

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    Efthymiadou, Alexandra; Stefanou, Eunice G; Chrysis, Dionisios

    2012-01-01

    45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

  10. Towards identification of molecular mechanisms of short stature.

    Science.gov (United States)

    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.

  11. The views of young adults and their parents on hormone treatment for short stature in adolescence

    NARCIS (Netherlands)

    Visser-van Balen, Hanneke; Geenen, Rinie; Looij, Janneke; Huisman, Jaap; Wit, Jan M.; Sinnema, Gerben

    2008-01-01

    Aim: To examine the view of young adults and their parents on growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment in adolescence for idiopathic short stature (ISS) or short stature born small for gestational age (SGA). Methods: Thirty young adults with ISS or SGA (18 tre

  12. Children's psychosocial functioning and parents' quality of life in paediatric short stature: The mediating role of caregiving stress.

    Science.gov (United States)

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

    2017-09-27

    On the basis of the multidimensional model of the caregiving process, this study aimed (a) to compare the levels of quality of life (QoL) and psychological problems of children with short stature and the levels of caregiving stress and QoL of their parents, between diagnostic, treatment, and current height deviation groups, and (b) to examine the direct and indirect links, via caregiving stress, between children's psychosocial functioning and their parents' QoL. The sample was collected in 5 European countries and comprised 238 dyads of 8- to 18-year-old children and adolescents with a clinical diagnosis of growth hormone deficiency or idiopathic short stature and one of their parents. The children completed self-report measures of height-related QoL (Quality of Life in Short Stature Youth Core Module) and psychological problems (Strengths and Difficulties Questionnaire); the parents reported on their own QoL (EUROHIS-QOL-8 Index) and caregiving stress (Quality of Life in Short Stature Youth Effects on Parents subscale). Children who were treated and who achieved normal height reported better QoL compared to those untreated and with current short stature. Parents of children with idiopathic short stature and current short stature presented greater caregiving stress than parents of children with growth hormone deficiency and achieved normal height. Children's better psychosocial functioning was indirectly associated with parents' better QoL, via less caregiving stress, and these links were invariant across diagnoses, treatment status, and current height deviation. These results suggest that, along with growth hormone treatments, multidisciplinary interventions in paediatric endocrinology should be family-centred, by targeting both the children's psychosocial functioning and the parents' stress, in order to improve individual and family adaptation. Key Practitioner Message Height-related quality of life impairments and more internalizing problems in children and

  13. Metacarpal index in short stature before and during growth hormone treatment

    OpenAIRE

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

    1998-01-01

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

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

    Science.gov (United States)

    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.

  15. Functioning and Challenges in Equality and Accessibility Among People with Short Stature.

    Science.gov (United States)

    Pesola, Kirsti; Anttila, Heidi; Mäkitie, Outi; Leppäjoki, Sanna; Hiekkala, Sinikka

    2016-01-01

    Accessibility is not the same for all of us. This study concerns people with short stature, their functioning and challenges in equality and accessibility in our environment based on average measures.

  16. Short stature in patients with 45,X/46,XY mosaicism: report of three cases.

    Science.gov (United States)

    Lee, Chih-Fand; Su, Pen-Hua; Chen, Jia-Yuh; Chen, Suh-Jen; Yang, Kai-Chi; Lin, Li-Ling

    2006-01-01

    Chromosomal analysis is routinely considered in all girls--but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height 45,X/46,XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45,X/46,XY mosaicism before the epiphyseal plates close.

  17. [A benign variant of the course of Duchenne muscular dystrophy in a child with short stature].

    Science.gov (United States)

    Badalian, L O; Temin, P A; Kamennykh, L N; Zavadenko, N N; Nikanorova, M Iu; Arkhipov, B A; Malygina, N A

    1991-01-01

    The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.

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

    Directory of Open Access Journals (Sweden)

    J Paul Frindik

    2010-06-01

    Full Text Available J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: 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.Keywords: idiopathic short stature, ISS, growth hormone therapy, somatotropin, somatropin, insulin-like growth factor I, IGF-1

  19. Triple X Syndrome with Short Stature: Case Report and Literature Review

    OpenAIRE

    Mingyan Li; Chaochun Zou; Zhengyan Zhao

    2012-01-01

    Background: Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome.Case Presentation: A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weig...

  20. Growth monitoring and diagnostic work-up of short stature: An International Inventorization

    NARCIS (Netherlands)

    Grote, F.K.; Oostdijk, W.; Muinck Keizer-Schrama, S.M.P.F. de; Dekker, F.W.; Verkerk, P.H.; Wit, J.M.

    2005-01-01

    Background/Aims: Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature. Methods: A short questionnaire, containing questions on auxological screening and on diagnostic criteri

  1. Growth monitoring and diagnostic work-up of short stature: An International Inventorization

    NARCIS (Netherlands)

    Grote, F.K.; Oostdijk, W.; Muinck Keizer-Schrama, S.M.P.F. de; Dekker, F.W.; Verkerk, P.H.; Wit, J.M.

    2005-01-01

    Background/Aims: Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature. Methods: A short questionnaire, containing questions on auxological screening and on diagnostic

  2. Short stature in Duchenne muscular dystrophy: a study of 34 patients.

    Science.gov (United States)

    Nagel, B H; Mortier, W; Elmlinger, M; Wollmann, H A; Schmitt, K; Ranke, M B

    1999-01-01

    In Duchenne muscular dystrophy (DMD), short stature is a feature of unknown cause. This cross-sectional study of 34 male patients (mean age 8.0 y, age range 1.2-13.7 y) was conducted to examine the relationship between auxological parameters, markers of growth and the extent of muscular weakness. Weight and length at birth (SDS +/- SD; 0.0 +/- 1.2; 0.2 +/- 1.5) and target height SDS (-0.2 +/- 0.7) were normal. Height (HT) SDS (-1.0 +/- 1.1) was lower than the normal population (p Growth hormone deficiency does not seem to be the cause of short stature in DMD. Significantly low BAP levels are probably the result of the reduced muscle mass, which leads to a lower biomechanical load on the bone and thus a reduction in bone turnover. The short stature observed in our study is unlikely to be the result of muscular weakness.

  3. Short Stature and Access to Lung Transplantation in the United States. A Cohort Study.

    Science.gov (United States)

    Sell, Jessica L; Bacchetta, Matthew; Goldfarb, Samuel B; Park, Hanyoung; Heffernan, Priscilla V; Robbins, Hilary A; Shah, Lori; Raza, Kashif; D'Ovidio, Frank; Sonett, Joshua R; Arcasoy, Selim M; Lederer, David J

    2016-03-15

    Anecdotally, short lung transplant candidates suffer from long waiting times and higher rates of death on the waiting list compared with taller candidates. To examine the relationship between lung transplant candidate height and waiting list outcomes. We conducted a retrospective cohort study of 13,346 adults placed on the lung transplant waiting list in the United States between 2005 and 2011. Multivariable-adjusted competing risk survival models were used to examine associations between candidate height and outcomes of interest. The primary outcome was the time until lung transplantation censored at 1 year. The unadjusted rate of lung transplantation was 94.5 per 100 person-years among candidates of short stature (<162 cm) and 202.0 per 100 person-years among candidates of average stature (170-176.5 cm). After controlling for potential confounders, short stature was associated with a 34% (95% confidence interval [CI], 29-39%) lower rate of transplantation compared with average stature. Short stature was also associated with a 62% (95% CI, 24-96%) higher rate of death or removal because of clinical deterioration and a 42% (95% CI, 10-85%) higher rate of respiratory failure while awaiting lung transplantation. Short stature is associated with a lower rate of lung transplantation and higher rates of death and respiratory failure while awaiting transplantation. Efforts to ameliorate this disparity could include earlier referral and listing of shorter candidates, surgical downsizing of substantially oversized allografts for shorter candidates, and/or changes to allocation policy that account for candidate height.

  4. Skeletal age in idiopathic short stature: An analytical study by the TW3 method, Greulich and Pyle method

    Directory of Open Access Journals (Sweden)

    Kim Hak

    2010-01-01

    Full Text Available Background: The skeletal age in short stature and in various other growth abnormalities is well documented. We lack the study pertaining to the analysis of the skeletal age in idiopathic short stature or analyzing the difference in skeletal age delay or advancement between the familial short stature (FSS and non-familial short stature (non-FSS groups, hence this study. Present retrospective study is designed to study the variation in patterns of skeletal age in ISS. Materials and Methods: One hundred and eighty six patients, 95 males and 91 females of idiopathic short stature were examined to assess the skeletal age deviation in relation to chronological age. The radiographs of the left hand and wrist were done. The skeletal age was assessed using Tanner and Whitehouse (TW3 method and Greulich and Pyle (GP atlas. The patients were divided into two groups based on the parental heights. Group A (Familial Short Stature; FSS with 100 patients (55 males, 45 females included patients whose at least one parent was short and Group B (non-Familial Short Stature; non-FSS with 86 patients (40 males, 46 females, included patients whose parental height was normal. The carpal scores, RUS (Radius, Ulna and Short bone scores and GP age were determined and the respective delay or advances were calculated. Results: The skeletal age in Group A was delayed relative to chronological age by a mean of 1.9 years in males and 2.3 years in females (P< 0.05 by RUS method, mean of 2.7 years in males and 2.6 years in females by Carpal score (P< 0.05, 2.2 years in males and 2.7 years in females by GP atlas age (P< 0.05. The skeletal age in Group B was advanced by a mean of 0.9 years in males and 1.4 years in females (P< 0.05 by RUS method, mean of 0.4 years in males and 0.35 years in females by Carpal score (P< 0.05, mean of 1.1 years in males and 0.2 years in females by GP atlas method (P< 0.05. The Pearson′s coefficient of correlation (P< .001 demonstrated good agreement

  5. Triple X Syndrome with Short Stature: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Mingyan Li

    2012-06-01

    Full Text Available Background: Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome.Case Presentation: A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test.Conclusion: Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test.

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

    NARCIS (Netherlands)

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

    2002-01-01

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

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  9. Coeliac disease in patients with short stature: A tertiary care centre experience.

    Science.gov (United States)

    Singh, Prashant; Sharma, Piyush Kumar; Agnihotri, Abhishek; Jyotsna, Viveka P; Das, Prasenjit; Gupta, Siddhartha Datta; Makharia, Govind K; Khadgawat, Rajesh

    2015-01-01

    We aimed to determine the prevalence of coeliac disease among children with short stature at a tertiary care centre and to define the predictors for coeliac disease, if any, in them. In this retrospective study, we reviewed the case records of children and adolescents with growth retardation attending the Paediatric Endocrinology Clinic from January 2008 to June 2011. All patients underwent the multi-tier stratified diagnostic protocol for complete evaluation of short stature. Coeliac disease was screened using IgA-anti-tissue transglutaminase antibody. The diagnosis of coeliac disease was made on the basis of the modified European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) criteria. Of 432 patients (238 boys) who presented with short stature, 72 (16.7%) had physiological, while 360 (83.3%) had pathological causes. Endocrine causes were growth hormone deficiency (86 patients, 19.9%), hypopituitarism (31, 7.2%), hypothyroidism (22, 5.1%) and others (7, 1.6%). The systemic causes were: coeliac disease (47, 10.9%), haematological diseases (14, 3.2%), renal diseases (11, 2.5%) and others (24, 5.6%). Chronic diarrhoea (OR 15.7, 95% CI 7.8-31.5) and anaemia (OR 4.9, 95% CI 1.9-12.7]) were significant predictors for coeliac disease in patients with short stature. There was a definite response to gluten-free diet in them and the mean (SD) growth velocity measured over at least 6 months of gluten-free diet was 8.1 (3.0) cm/year. Nearly 11% of patients presenting with short stature have coeliac disease. In these patients chronic diarrhoea and anaemia were significant predictors of coeliac disease. Copyright 2015, NMJI.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

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

    Directory of Open Access Journals (Sweden)

    Sichieri R.

    2003-01-01

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

  13. Validation of the Italian Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

    Science.gov (United States)

    Quitmann, J; Giammarco, A; Maghnie, M; Napoli, F; Di Giovanni, I; Carducci, C; Mohn, A; Bullinger, M; Sommer, R

    2017-04-10

    The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a disease-specific instrument developed to assess health-related quality of life (HrQoL) in children with short stature. While the original instrument was simultaneously developed in five European countries, this study describes the results of the Italian QoLISSY translation, cultural adaptation, and validation. Focus group discussions and a cognitive debriefing process with children (N = 12) diagnosed with growth hormone deficiency or idiopathic short stature and one parent each, as well as parents of younger children (N = 20) were conducted to examine the linguistic and content validity of the Italian version. Psychometric testing was performed using data from the subsequent field- and re-test (N = 32). The results of the qualitative testing of the Italian sample revealed comparability of content to data of the original five European countries. The following field- and re-test results were psychometrically satisfactory including good item and scale operating characteristics, sufficient evidence of reliability, and acceptable evidence of construct validity. In conclusion, the Italian QoLISSY HrQoL-dimensions are comparable to other European countries. The psychometric quality of the Italian QoLISSY version is satisfactory and the instrument is ready for use in Italian patients and their parents.

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

    Science.gov (United States)

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

    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

  15. Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?

    Science.gov (United States)

    Pfeiffer, R A; Kapferer, L; Tietze, H U

    1996-01-01

    We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question.

  16. Etiology and treatment of 67 children with short stature%儿童矮小症67例病因和治疗分析

    Institute of Scientific and Technical Information of China (English)

    朱锦渊; 宋娟; 农雪艳; 黄秀娟; 杨翠萍

    2014-01-01

    Objective To study the etiological factors and treatment feature of children with short stature,and provide reference for clinical diagnosis and treatment.Methods The clinical data of 67 children with short stature were analyzed,and they respectively adopted reorganization human growth hormone(rhGH) and comprehensive treatment.Results Among the 67 cases of children with short stature,growth hormone deficiency(GHD) in 23 cases,idiopathic short stature in 21 cases,familial short stature in 9 cases,constitutional delay of growth and puberty in 4 cases,3 cases for intrauterine growth retardation(IUGR),2 cases for Turner syndrome,2 cases for hypothyroidism,2 cases for Down's syndrome,1 case for Congenital cartilage dysplasia.Rh-GH was effective on treatment of GHD,ISS,familial short stature and IUGR was better.The same curative effect could be achieved in hypothyroidism and non-GHD cases after treatment with thyroid tablets.Conclusions According to the pathogeny,selecting correct treatments is the key to treat the short stature children.%目的 探讨儿童矮小症的病因与治疗特点,为临床诊断治疗提供参考依据.方法 对67例儿童矮小症患儿的临床资料进行分析,并使用重组人生长激素(rh-GH)和其他相关治疗.结果 67例矮小症儿童中,生长激素(GH)缺乏性矮小23例,特发性矮小21例,家族性矮小9例,体质性青春发育延迟4例,宫内发育迟缓3例,Turner综合征、甲状腺功能减退、21-三体综合征各2例,先天性软骨发育不良1例.rh-GH对生长激素缺乏症(GHD)疗效显著,对特发性矮小、家族性矮小、宫内发育迟缓效果满意,非GH缺乏甲状腺功能低下者予以甲状腺素片治疗,生长增速.结论 矮小原因很多,及时发现病因,寻求最佳治疗手段非常重要.

  17. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

    Science.gov (United States)

    Maksimova, Nadezda; Hara, Kenju; Nikolaeva, Irina; Chun-Feng, Tan; Usui, Tomoaki; Takagi, Mineo; Nishihira, Yasushi; Miyashita, Akinori; Fujiwara, Hiroshi; Oyama, Tokuhide; Nogovicina, Anna; Sukhomyasova, Aitalina; Potapova, Svetlana; Kuwano, Ryozo; Takahashi, Hitoshi; Nishizawa, Masatoyo; Onodera, Osamu

    2010-08-01

    Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is characterised by autosomal recessive inheritance, severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, Pelger-Huët anomaly of leucocytes, and optic atrophy with loss of visual acuity and colour vision. This new syndrome is designated as short stature with optic atrophy and Pelger-Huët anomaly (SOPH) syndrome. To identify a causative gene for SOPH syndrome. Genomewide homozygosity mapping was conducted in 33 patients in 30 families. The disease locus was mapped to the 1.1 Mb region on chromosome 2p24.3, including the neuroblastoma amplified sequence (NBAS) gene. Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state. None of the 203 normal Yakuts individuals had this substitution in the homozygous state. Immunohistochemical analysis revealed that the NBAS protein is well expressed in retinal ganglion cells, epidermal skin cells, and leucocyte cytoplasm in controls as well as a patient with SOPH syndrome. These findings suggest that function of NBAS may associate with the pathogenesis of short stature syndrome as well as optic atrophy and Pelger-Huët anomaly.

  18. [Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports)].

    Science.gov (United States)

    Oulahiane, A; Elhaddad, N; Ouleghzal, H; Gaouzi, A

    2011-09-01

    Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder.

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

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    Susan R. Mendley

    2015-01-01

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

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

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    Sharvil S Gadve

    2012-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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

  2. 人矮小同源盒基因在身材矮小中的研究进展%Research development of short stature homeobox containing gene in short stature

    Institute of Scientific and Technical Information of China (English)

    谢理玲

    2014-01-01

    Children short stature is pediatric endocrine disease.It has now been confirmed that short stature homeobox gene(SHOX gene)deletion and mutation are the molecular genetic basis of children Leri-Weill syndrome,Turner syndrome,idiopathic short stature and other short stature phenotype.SHOX gene defect has obvious heterogeneity in clinical phenotype.Early detection of SHOX gene defects provides important reference value and guiding significance for short stature diagnosis and treatment.%儿童身材矮小是儿科内分泌常见病,现已证实人矮小同源盒基因(SHOX基因)的缺失和突变是儿童Leri-Weill综合征、Turner综合征及特发性身材矮小和其他具有矮小表型疾病的分子遗传学基础,SHOX基因缺陷的临床表型具有明显的异质性,早期发现SHOX基因的缺陷对矮小症的诊断和治疗具有重要的参考价值和指导意义.

  3. Treatment of short stature and growth hormone deficiency in children with somatotropin (rDNA origin

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    Dana S Hardin

    2008-08-01

    Full Text Available Dana S HardinOhio State University and Columbus Children’s Hospital, Columbus, Ohio, USAAbstract: Somatotropin (growth hormone, GH of recombinant DNA origin has provided a readily available and safe drug that has greatly improved management of children and adolescents with GH deficiency (GHD and other disorders of growth. In the US and Europe, regulatory agencies have given approval for the use of GH in children and adults who meet specific criteria. However, clinical and ethical controversies remain regarding the diagnosis of GHD, dosing of GH, duration of therapy and expected outcomes. Areas which also require consensus include management of pubertal patients, transitioning pediatric patients to adulthood, management of children with idiopathic short stature and the role of recombinant IGF-1 in treatment. Additionally, studies have demonstrated anabolic benefits of GH in children who have inflammatory-based underlying disease and efficacy of GH in overcoming growth delays in people treated chronically with corticosteroids. These areas are open for possible new uses of this drug. This review summarizes current indications for GH use in children and discusses areas of clinical debate and potential anabolic uses in chronic illness.Keywords: somatotropin, growth hormone deficiency, children, short stature

  4. Zip1, Zip2, and Zip8 mRNA expressions were associated with growth hormone level during the growth hormone provocation test in children with short stature.

    Science.gov (United States)

    Sun, Ping; Wang, Shifu; Jiang, Yali; Tao, Yanting; Tian, Yuanyuan; Zhu, Kai; Wan, Haiyan; Zhang, Lehai; Zhang, Lianying

    2013-10-01

    Short stature of children is affected by multiple factors. One of them is growth hormone (GH) deficiency. Growth hormone therapy can increase the final height of children with growth hormone deficiency. Zinc is found to induce dimerization and to enhance the bioactivity of human GH. Two gene families have been identified involved in zinc homeostasis. Previous studies in our laboratory have shown that Zip1, Zip2, Zip6, and ZnT1 mRNA were associated with zinc level in established human breast cancer in nude mice model; Zip8 was significantly lower in zinc-deficient Wistar rats in kidney. In this study, five zinc transporters: Zip1, Zip2, Zip6, Zip8, and ZnT1 were chosen. We aimed to investigate the mRNA expression of zinc transporters and to explore the relationship between zinc transporters and growth hormone in short stature children. Growth hormone provocation test is used to confirm the diagnosis of growth hormone deficiency. Six short children for the test were enrolled. At the same time, 15 sex- and age-matched normal children were enrolled as control. The expression levels of zinc transporters in peripheral blood mononuclear cells were determined by quantitative real-time PCR. Zip1 and Zip2 mRNA expression positively correlated with growth hormone level (r = 0.5133, P = 0.0371; r = 0.6719, P = 0.0032); Zip8 mRNA expression negatively correlated with growth hormone level (r = -0.5264, P = 0.0285) during the test in short stature children. The average expression level of Zip2 was significantly higher and Zip6, Zip8 mRNA levels were significantly lower in short stature children than in health controls at 0 min (P < 0.05, P < 0.05).

  5. Effect of age and affection status on blood pressure, serum potassium and stature in familial hyperkalaemia and hypertension.

    Science.gov (United States)

    Farfel, Alon; Mayan, Haim; Melnikov, Semyon; Holtzman, Eliezer J; Pinhas-Hamiel, Orit; Farfel, Zvi

    2011-05-01

    The rare autosomal dominant genetic disorder familial hyperkalemia and hypertension which is caused by mutations in WNK4 kinase, is characterized by childhood hyperkalemia and hypercalciuria, and appearance of hypertension in the third to fourth decade. Accompanying short stature is often described. We determined height, blood pressure and blood and urinary biochemical parameters in members of a very large family of FHHt with the WNK4 Q565E mutation. The family has 57 members, 30 of whom (including 14 children) are affected. Prehypertension occurred in 7/11 affected and 1/10 unaffected children (P = 0.024). Serum potassium (SK) was ~0.5 mmol/L higher in affected children vs adults [5.98 ± 0.42 vs 5.46 ± 0.40 mmol/L, respectively (P < 0.0001)] (33 samples from 11 children and 36 samples from eight adults). SK of ≥ 6.0 mmol/L occurred in 16/33 children's samples and in 3/36 adults' samples (P = 0.0003). Hyperkalaemia in children is currently untreated. Children also had more severe hyperchloraemia and hypercalciuria. The family contains four large subfamilies, and each includes 8-10 siblings. In one subfamily, height Z-score was lower in affected vs unaffected subjects [- 2.69 ± 0.36 vs -1.05 ± 0.16, respectively (P < 0.0001)]. In the other three subfamilies, no such difference was found. Short stature is not part of FHHt with the WNK4 Q565E mutation. Children affected with FHHt have a high prevalence of prehypertension, and their hyperkalaemia is more severe than that of affected adults. Children may have a more severe defect in the basic mechanism that produces hyperkalaemia. We suggest that, in affected adults, the attenuation of hyperkalaemia and appearance of hypertension may be the result of a late rise in the activity of renal transporters or channels such as the epithelial sodium channel.

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

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    Deep Dutta

    2012-01-01

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

  7. Treatment of idiopathic short stature: effects of gonadotropin-releasing hormone analogs, aromatase inhibitors and anabolic steroids.

    Science.gov (United States)

    Dunkel, Leo

    2011-01-01

    Modulation of sex steroid action on the growth plate can, at least theoretically, increase adult height in children and adolescents with idiopathic short stature. Gonadotropin-releasing hormone (GnRH) analog therapy during adolescence has been shown effective in a placebo-controlled study, but to obtain clinically significant increases in adult height, the treatment duration must be lengthy (several years). Furthermore, such treatment seems to compromise bone health and, because of the resulting delay in pubertal development, likely has psychosocial consequences. Therefore, GnRH analogs are no longer recommended to augment height in adolescents with short stature and normally timed puberty. Aromatase inhibitors are probably more effective than GnRH analogs in promoting increased adult height in children with short stature and, unlike GnRH analogs, do not delay pubertal development in males. However, due to a dearth of safety data with aromatase inhibitors for the treatment of short stature, their use outside a research setting is currently not recommended. Positive effects of anabolic steroids on adult height have not been documented.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-06-15

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

  9. Jgz-richtlijn: 'Signalering van en verwijscriteria bij kleine lichaamslengte' [Guideline for preventive child health care: 'Detection and referral criteria in short stature'

    NARCIS (Netherlands)

    Kamphuis, M.; Obenhuijsen, N.H.; Dommelen, P. van; Buuren, S. van; Verkerk, P.H.; Jeugdgezondheidszorg

    2010-01-01

    The main goal of this guideline for preventive child health care (PCHC) is to improve early detection of disorders that induce short stature. Based on research, evidence-based referral criteria for children aged 0-10 years with a short stature were formulated. These criteria are important for all pr

  10. Growing Pains: Psychological evaluation of children with short stature after intrauterine growth retardation, before and after two years of growth hormone treatment

    NARCIS (Netherlands)

    E.A. van der Reijden-Lakeman (Ilse)

    1996-01-01

    textabstractSince the availability of biosynthetic human growth hormone (hGH) in 1985, many studies on the effects of hGH administration on various groups of children with short stature have been performed. The present study reports on the psychological evaluation of children with short stature afte

  11. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    Science.gov (United States)

    Shimojima, Keiko; Narai, Satoshi; Togawa, Masami; Doumoto, Tomotsune; Sangu, Noriko; Vanakker, Olivier M; de Paepe, Anne; Edwards, Matthew; Whitehall, John; Brescianini, Sally; Petit, Florence; Andrieux, Joris; Yamamoto, Toshiyuki

    2016-10-01

    There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and other distinctive features. The shortest region of overlap within the 7p22.1 region includes five genes, FBXL18, ACTB, FSCN1, RNF216, and ZNF815P. Of these genes, only ACTB is known to be associated with an autosomal dominant trait. Dominant negative mutations in ACTB are responsible for Baraitser-Winter syndrome 1. We analyzed ACTB expression in immortalized lymphocytes derived from one of the patients and found that it was reduced to approximately half that observed in controls. This indicates that ACTB expression is linearly correlated with the gene copy number. We suggest that haploinsufficiency of ACTB may be responsible for the clinical features of patients with 7p22.1 microdeletions.

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

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    Nithya Setty-Shah

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

  13. Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

    Science.gov (United States)

    Busche, Andreas; Graul-Neumann, Luitgard M; Zweier, Christiane; Rauch, Anita; Klopocki, Eva; Horn, Denise

    2011-01-01

    Saethre-Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen syndrome. Here we describe 3 patients with facial dysmorphism, marked microcephaly, short stature (2/3 patients), and overlapping 7p21 microdeletions. Molecular karyotyping identified small deletions of chromosome 7p21 including TWIST1 with a size of 526 kb, 9.2 Mb, and 11.7 Mb, respectively. The clinical manifestations of these patients do not resemble the typical phenotype of Saethre-Chotzen syndrome. In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome.

  14. Ring chromosome 15 presenting as short stature, intellectual disability and caf and eacute;-au-lait spots

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    Sandip G. Gediya

    2016-11-01

    Full Text Available Ring Chromosome 15 results from loss of genetic material from both ends of chromosome 15 and joining of the ends to form ring. Only 50 cases are reported in literature with none from India. We report a case of 17 years old female approached us for short stature and low intelligence. On examination we noticed childish facial features, microcephaly and cafe-au-lait spots in significant number and size. Her karyotype result was 46xx r15. CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots. Timely recognition and hereditary tendency counselling is required. [Int J Res Med Sci 2016; 4(11.000: 5087-5089

  15. Molecular Study of a Hoxa2 Gain-of-Function in Chondrogenesis: A Model of Idiopathic Proportionate Short Stature.

    OpenAIRE

    Catherine Nyssen-Behets; René Rezsöhazy; Lengelé, Benoît G.; Deprez, Pierre M L; Nichane, Miloud G

    2013-01-01

    In a previous study using transgenic mice ectopically expressing Hoxa2 during chondrogenesis, we associated the animal phenotype to human idiopathic proportionate short stature. Our analysis showed that this overall size reduction was correlated with a negative influence of Hoxa2 at the first step of endochondral ossification. However, the molecular pathways leading to such phenotype are still unknown. Using protein immunodetection and histological techniques comparing transgenic mice to cont...

  16. Molecular Study of a Hoxa2 Gain-of-Function in Chondrogenesis: A Model of Idiopathic Proportionate Short Stature

    Directory of Open Access Journals (Sweden)

    Catherine Nyssen-Behets

    2013-10-01

    Full Text Available In a previous study using transgenic mice ectopically expressing Hoxa2 during chondrogenesis, we associated the animal phenotype to human idiopathic proportionate short stature. Our analysis showed that this overall size reduction was correlated with a negative influence of Hoxa2 at the first step of endochondral ossification. However, the molecular pathways leading to such phenotype are still unknown. Using protein immunodetection and histological techniques comparing transgenic mice to controls, we show here that the persistent expression of Hoxa2 in chondrogenic territories provokes a general down-regulation of the main factors controlling the differentiation cascade, such as Bapx1, Bmp7, Bmpr1a, Ihh, Msx1, Pax9, Sox6, Sox9 and Wnt5a. These data confirm the impairment of chondrogenic differentiation by Hoxa2 overexpression. They also show a selective effect of Hoxa2 on endochondral ossification processes since Gdf5 and Gdf10, and Bmp4 or PthrP were up-regulated and unmodified, respectively. Since Hoxa2 deregulation in mice induces a proportionate short stature phenotype mimicking human idiopathic conditions, our results give an insight into understanding proportionate short stature pathogenesis by highlighting molecular factors whose combined deregulation may be involved in such a disease.

  17. [Adult height of children with idiopathic short stature treated with growth hormone therapy].

    Science.gov (United States)

    Avilés Espinoza, Carolina; Bermúdez Melero, Carla; Martinez Aguayo, Alejandro; García Bruce, Hernán

    2016-01-01

    Idiopathic short stature (ISS) is defined as a height of < or = 2 standard deviations (SD) from the mean for age. The use of Growth Hormone (GH) in ISS is controversial, and there are not results for adult height (AH) in Chilean patients with ISS treated with GH. The objective of the study is to compare AH in patients treated with GH with the height prediction at beginning of treatment. AH was considered with bone age ≥ 17 in males and ≥15 in females. The height SD according to the NCHS curves at beginning and ending of treatment were used for the comparison. Height prediction (HP) was calculated by Bayley-Pinneau method. AH was reached by 18/47 patients with ISS treated with GH. Initial height -2.1 ± 0.85 SD (133.1±6.8 cm) and HP -1.94±0.86 SD, and were treated since 11.6 ± 1.2 years old. After one year of treatment their height was -1.64 ± 0.69 SD, and AH was -1.28 +/- 0.62 SD (163.76 +/- 7.22 cm). It is suggested that treatment with GH for ISS is effective to increase AH. Although with wide individual variability, a mean increase of 0.67±0.9 SD (+2.67 cm) was obtained in the AH. This is the first report on Adult Height in Chilean patients. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Prevalence of celiac disease in Iranian children with idiopathic short stature

    Institute of Scientific and Technical Information of China (English)

    Jalal Hashemi; Eskandar Hajiani; HBB Shahbazin; Rahim Masjedizadeh; Navab Ghasemi

    2008-01-01

    AIM:To determine the prevalence of celiac disease (CD) in children with idiopathic short stature (ISS)and the diagnostic value of immunoglobulin (Ig) A G antigliadin antibodies (AGA) and transglutaminase (TTG)antibodies for CD.METHODS:A total of 104 children (49 male,55 female) with ISS without a specific etiology were studied.Extensive endocrine investigations had shown no abnormalities in any subject.Anthropometric parameters and IgA AGA and IgA "n'G antibodies were evaluated in this study group.These antibodies were measured by enzyme-linked immunosorbent assay.All patients were referred for an endoscopic intestinal biopsy.The biopsy samples were classified according to revised Marsh criteria (UEGW 2001).RESULTS:We detected positive IgA TTG antibodies in 36 and IgA AGA in 35 of these patients.Thirty one IgA TTG antibody positive and 28 IgA AGA positive subjects showed histological abnormalities compatible with celiac disease (33.6%).Sensitivity,specificity,positive predictive value (PPV) and negative predictive value for IgA AGA were found to be 80%,88.4%,77.8% and 89.7%,respectively.Sensitivity,specificity and PPV for IgA TTG antibodies were 88.6%,94.2% and 88.6%,respectively.CONCLUSION:We conclude that the prevalence of celiac disease is high in patients with ISS and it is important to test all children with ISS for celiac disease by measuring serologic markers and performing an intestinal biopsy.

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

    Science.gov (United States)

    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

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

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    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, hypogona...

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

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    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, hypogona...... suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects....

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

    Science.gov (United States)

    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.

  3. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.

    Science.gov (United States)

    Monastirli, Alexandra; Stephanou, Georgia; Georgiou, Sophia; Andrianopoulos, Constantinos; Pasmatzi, Efi; Chroni, Elizabeth; Katrivanou, Aggeliki; Dimopoulos, Panagiotis; Demopoulos, Nikos A; Tsambaos, Dionysios

    2005-04-01

    We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

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

    Directory of Open Access Journals (Sweden)

    Giulio Gilli

    2007-12-01

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

  5. Fatores de risco para a ocorrência de déficit estatural em pré-escolares Risk factors for short stature in preschool children

    Directory of Open Access Journals (Sweden)

    Lenir Vaz Guimarães

    1999-09-01

    Full Text Available Um estudo caso-controle foi desenvolvido para identificar a magnitude do efeito dos principais fatores associados à estatura baixa de pré-escolares em uma cidade do interior paulista, no ano de 1995. Dentre os 1.201 pré-escolares que freqüentavam as escolas públicas do município, selecionaram-se 165 crianças que apresentavam um índice estatura/idade ou = 1 escore Z (controles. As mães ou os responsáveis pelas crianças foram entrevistados para a obtenção de informações sócio-econômicas, características da família e características reprodutivas maternas e antropométricas. A análise de regressão logística múltipla hierarquizada indicou maior chance de déficit estatural nos seguintes grupos de pré-escolares: com baixa escolaridade da mãe (OR = 2,1; IC 1,1-3,8, renda familiar per capita ou = 6 (OR = 3,7; IC: 1,5-9,0, número de equipamentos domésticos A case-control study was conducted to know the magnitude of the effect of main risk factors for short stature of pre-school children in a city in São Paulo State, in 1995. An anthropometric survey carried out with all children (1201 attending public pre-school classes was used to select the case and the control groups. It was selected a random sample of 165 children among those with stature/age or = +1 Z score (control. The mothers or persons responsible for these children were interviewed in order to obtain information on demographic, maternal and socio-economic variables. The multiple logistic hierarchical analysis showed the following variables as associated with pre school children's short stature: mother's educational level (OR = 2,1; CI: 1,1-3,8; per capita family income or = 6 (OR = 3,7; CI: 1,5-9,0; number of domestic equipment <= 1 (OR = 4,4; CI: 1,8-10,7; birth length < 48 (OR = 7,4; CI: 2,3-23,7, mother's stature <= 156,6 (OR = 5,9; CI: 3,1-11,0 and father's stature (OR = 4,2; CI: 2,1-8,6. We was found that even in a population of preschool children without

  6. The causes of short stature in Turner syndrome%Turner综合征身材矮小原因探讨

    Institute of Scientific and Technical Information of China (English)

    张莹; 陈瑞敏; 杨晓红; 林祥泉; 袁欣

    2013-01-01

    Objectives To investigate the causes of short stature in Turner syndrome (TS). Methods 86 patients were di-agnosed with TS by karyotypes from 2004 to 2013. According to the deletion types of the X chromosome short arm, growth hor-mone (GH), insulin-like growth factor-1 (IGF-1) and thyroid function, the TS patients were divided into different groups and com-parison was made among groups. Results Ht SDS in three groups with different extent of the deletion of the X chromosome short arm were (-4.39±1.08), (-3.26±1.25) and (-2.84±0.15) (P0.05). Conclusions The deletion of X chromosome short arm may cause the short stature in TS. The GH-IGF-1 axis in TS is impaired, but GHD is not related to short stature in TS.%目的:探讨先天性卵巢发育不全综合征(Turner,TS)患儿身材矮小的原因。方法回顾性分析2004年至2013年86例TS患儿,分别按患儿染色体短臂缺失类型、IGF-1降低程度、GH缺乏及甲状腺功能减退与否进行分组比较。结果 X染色体短臂缺失程度不同的三组TS患儿身高标准差分值(Ht SDS)分别为(-4.39±1.08)(、-3.26±1.25)(、-2.84±0.15),差异有统计学意义(P0.05)。结论 X染色体短臂缺失对TS患儿身材矮小起重要作用。TS患儿的GH-IGF-1轴受影响,但GH缺乏与甲状腺功能减退与患儿矮小无关。

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

    Science.gov (United States)

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

    Science.gov (United States)

    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 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

  9. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

    Science.gov (United States)

    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.

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

    Science.gov (United States)

    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.

  11. Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.

    Science.gov (United States)

    LaDine, B J; Simmons, J A; Shrimpton, A E; Hoo, J J

    2001-03-15

    A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis. Their condition is reminiscent of that described in the family reported by Kapur et al. [1989: Am. J. Med. Genet. 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition.

  12. The clinical analysis of 31 cases of short stature%矮小症31例临床分析

    Institute of Scientific and Technical Information of China (English)

    云素芳; 苏秀兰; 闫朝丽; 李彩萍; 侯俊秀; 邱琳; 皇甫建

    2013-01-01

    目的 分析矮小症的临床特征.方法对2010年7月-2012年8月收治的31例矮小症患者的临床资料进行回顾性分析.结果 31例矮小症患者中,甲状腺功能减低症10例(32.26%),包括原发性甲状腺功能减退6例和继发性甲状腺功能减退4例;特发性生长激素缺乏症(IGHD)8例(25.81%);特发性矮小(ISS)3例(9.68%);先天性卵巢发育不全(TS)3例(9.68%);软骨发育不全(ACH)2例(6.45%);体质性青春期发育延迟3例(9.68%);先天愚型1例(3.23%);Silver-Russell综合征1例(3.23%).结论 矮小症病因复杂,临床表现各异,确诊困难.故对于矮小患者应详细询问病史,完善各项检查,以便早诊断、早治疗.%Objective To explore the clinical features of short stature. Methods The clinical data of 31 cases with short stature who admitted to the hospital from July,2010 to August,2012 were collected, then retrospectively reviewed these data. Results Among 31 cases of short stature, there were 10 cases with hypothyroidism, accounting for 32. 26% , containing 6 cases of primary hypothyroidism ( TSH > 100 μU/ml )and 4 cases of secondary hypothyroidism ( 4. 87 μU/ml < TSH < 10. 00 μU/ml ); 8 cases of IGHD ( two growth hormone stimulation test: GH were less than 10 ng/ml ), accounting for 25. 81% ; 3 cases of ISS ( a kind of exclusion diagnosis ), accounting for 9. 68% ; 3 cases of TS[ karyotype analysis: 2 cases of 45, X/46, X, i ( Xq ), 1 case of 46, X, i ( Xq ) ], accounting for 9. 68% ; 2 cases of ACH ( large head, wide face, short limb, fingers in a "Trident" ), accounting for 6. 45% ; 3 cases of constitutimal delay of puberty, accounting for 9. 68% ; 1 case of Downs syndrome, accounting for 3. 23% ; 1 case of Silver-Russell syndrome, accounting for 3. 23%. Conclusion The causes of short stature are complex, having different clinical manifestations, and diagnosis is more difficult. It should be asked in detail about the history, and complete various examination tests for early diagnosis

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    BACKGROUND: We investigated a subject with an isolated cytochrome c oxidase (COX) deficiency presenting with an unusual phenotype characterised by neuropathy, exercise intolerance, obesity, and short stature. METHODS AND RESULTS: Blue-native polyacrylamide gel electrophoresis (BN-PAGE) analysis...... showed an almost complete lack of COX assembly in subject fibroblasts, consistent with the very low enzymatic activity, and pulse-labelling mitochondrial translation experiments showed a specific decrease in synthesis of the COX1 subunit, the core catalytic subunit that nucleates assembly...... assembly and mitochondrial translation defects, confirming the pathogenicity of the mutations, and resulted in increased steady-state levels of COX1 in control cells, demonstrating a role for COA3 in the stabilisation of this subunit. COA3 exists in an early COX assembly complex that contains COX1...

  14. 身材矮小相关基因研究进展%Genetic studies of short stature

    Institute of Scientific and Technical Information of China (English)

    沈文霞(综述); 邹朝春(审校)

    2015-01-01

    人类身高主要受下丘脑-垂体-生长激素轴调控,也受营养和体育锻炼等其他因素的影响,其中遗传因素是影响身高个体差异的主要原因,遗传度约为80%。目前国内外对导致身材矮小的基因分析已有较大的收获,与身高有关的基因达180多种。现就一些主要相关基因作一综述,主要包括腺垂体发育缺陷相关基因、生长激素释放激素-生长激素-胰岛素样生长因子1轴相关基因突变,以及其他相关基因突变和表现。%Human height is mainly regulated by the hypothalamus-pituitary-growth hormone axis, and also affected by other factors,such as nutrition and physical activity. Genetic factor is thought to be the main fac-tor,and genetic degree is about 80%. At present,genetic analysis in short stature has made great progresses both at home and abroad,and genes related to the height are more than 180. The article reviews some of the major genes related to the short stature,including the genes related to the adenohypophysis development,the genes re-lated to the GHRH-GH-IGF1 axis,as well as other related gene mutations and performance.

  15. Manejo farmacológico da baixa estatura: o papel dos inibidores da aromatase Pharmacological management of children with short stature: the role of aromatase inhibitors

    Directory of Open Access Journals (Sweden)

    Durval Damiani

    2007-11-01

    puberty as keywords. The most informative articles on indications, dosages, treatment schedules, and side effects of aromatase inhibitors were included in the review. SUMMARY OF THE FINDINGS: It has become increasingly clear that bone age advancement depends on the production of estrogen and its effect on the growth plate. In boys, testosterone is converted to estradiol by the cytochrome P450 enzyme aromatase. The use of aromatase inhibitors has been shown to be effective in prolonging the length of the growth phase in children with idiopathic short stature, constitutional growth delay, delayed puberty, as well as in children with growth hormone deficiency, in which bone age advancement jeopardizes the results of hormonal replacement therapy with growth hormones. As yet, significant adverse effects have not been reported, and results are encouraging in terms of effective increase in height, whenever the indication for the drug is appropriate. CONCLUSIONS: Among the pharmacological treatments for short stature, aromatase inhibitors are indicated in cases in which bone age advancement may constitute an obstacle for reaching a final height that is in keeping with the family's target height.

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

    Science.gov (United States)

    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. Copyright © 2013 Wiley Periodicals, Inc.

  17. Etiologic analysis of short stature in 596 children in Henan%河南地区596例矮小症病因分析

    Institute of Scientific and Technical Information of China (English)

    刘慧娟; 李桂玲; 高丽; 王霞

    2011-01-01

    Objective To survey the etiology of short stature in children in Henan. Methods A total of 596 patients with short stature, aged from 0 to 19 years, were investigated. A questionnaire was defined including disease history, body mass and height, parent's height, pubertal development and laboratory examination to analyze the etiology. Results Among 596 cases of short stature, there were growth hormone deficiency in 279 cases(46. 81%), idiopathic short stature in 122 cases(20. 47%), constitutional delay of growth and puberty in 44 cases(7. 38%), idiopathic central precocious puberty in 41 cases (6. 88%), hypothyroidism in 29 cases (4. 87%) and Turner's syndrome in 21 cases (3.52%). There were no significant differences in the incidence rates of low birth-weight and low birth-length among children with different etiology ( x2 = 1. 27, P > 0. 05). Conclusion Growth hormone deficiency and idiopathic short stature are the common causes of short stature in Henan. The birth parameters are not correlated with short stature.%目的 探讨河南地区儿童矮小症的病因.方法 设计统一调查表,采集596例0~19岁矮小症患儿病史、身高、体质量、父母身高及青春期发育史,实验室检查结果,并进行病因诊断.结果 596例矮小症患儿中生长激素缺乏症279例(46.81%),特发性矮小症122例(20.47%),体质性生长及青春期延迟44例(7.38%),特发性中枢性性早熟41例(6.88%),甲状腺功能低下29例(4.87%),Turner's综合征21例(3.52%).不同病因矮小症患儿低出生身长及低出生体质量发生率比较,差异无统计学意义(X2=1.27,P>0.05).结论 河南地区儿童矮小症以生长激素缺乏症和特发性矮小症多见,出生参数不能决定未来矮小状态.

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

    Directory of Open Access Journals (Sweden)

    Naess Eva E

    2007-02-01

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

  19. The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients.

    Science.gov (United States)

    Kim, Seung-Ju; Pierce, Wendy; Sabharwal, Sanjeev

    2014-04-01

    Distraction osteogenesis (DO) has been used to gain height in short statured individuals. However, there have been no studies comparing the clinical outcome of limb lengthening based on the etiology of the short stature. We assessed whether different underlying diagnoses are associated with varied clinical outcomes in these patients. We performed a systematic review of the literature pertaining to lower limb lengthening using external fixation for short stature. Clinical outcomes including amount of lengthening, healing index (HI), and complications based on the underlying diagnosis for the short stature were documented. 18 clinical studies were included, with 547 patients who underwent 1,581 lower limb segment lengthening procedures. Mean follow-up was 4.3 years. The average age at lengthening was less for individuals with achondroplasia/hypochondroplasia (A/H) (14.5 years) than for those with Turner's syndrome (TS) (18.2 years) or with constitutional short stature (CSS) (21.7 years). Mean height gained was greater in patients with A/H (9.5 cm) than in those with TS (7.7 cm) or CSS (6.1 cm) group. The HI was better in A/H (30.8 days/cm) and CSS (32 days/cm) than in TS (45.1 days/cm). The reported complication rate per segment was lower for A/H (0.68) and TS (0.71) than for CSS (1.06). Patients with A/H tolerated larger amounts of lengthening with fewer complications than those with other diagnoses.

  20. A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.

    Science.gov (United States)

    Santos-Rebouças, Cíntia B; Fintelman-Rodrigues, Natalia; Jensen, Lars R; Kuss, Andreas W; Ribeiro, Márcia G; Campos, Mário; Santos, Jussara M; Pimentel, Márcia M G

    2011-07-01

    Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member of an ARID protein family that harbors conserved DNA-binding motifs and acts as a histone H3 lysine 4 demethylase, suggesting a potential role in epigenetic regulation during development, cell growth and differentiation. In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype. The transition resulted in replacement of the normal cysteine by a premature termination codon at position 724 of the protein (p.Cys724X), leading to reduced levels of KDM5C transcript probably due to nonsense mediated mRNA decay. The clinical phenotype of the proband, who has two affected brothers and a mild cognitively impaired mother, consisted of short stature, speech delay, hyperactivity, violent behavior and high palate, besides severe mental retardation. Our findings extend the number of KDM5C mutations implicated in XLID and highlight its promise for understanding neural function and unexplained cases of XLID. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  1. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

    Science.gov (United States)

    Frydman, M; Etzioni, A; Eidlitz-Markus, T; Avidor, I; Varsano, I; Shechter, Y; Orlin, J B; Gershoni-Baruch, R

    1992-10-01

    We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.

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

    Science.gov (United States)

    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.

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

    OpenAIRE

    Laban, Nevenka; Tasic, Velibor; Danilovski, Dragan; Polenakovic, Momir; Gucev, Zoran

    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 deafnes...

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

    Science.gov (United States)

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

    2014-08-01

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

  5. Survey of skeletal age and etiology of children with short stature in Chongqing Wanzhou area%重庆万州地区矮身材儿童病因及骨龄调查

    Institute of Scientific and Technical Information of China (English)

    孔俊沣; 周子和; 罗佳美; 余洁; 牟方胜; 吴飞

    2015-01-01

    Objective To evaluate the cause and skeletal age of children with short stature in Chongqing Wanzhou area to provide a reference for the diagnosis and treatment of short stature in this region .Methods The da‐ta in 347 children with short stature in Chongqing(ancestral home) Wanzhou area were collected and their etiologies and skeletal ages were the retrospectively analyzed .Results Among the cases of short staure ,128 cases were idio‐pathic short stature(36 .89% ) ,56 cases(16 .14% ) were growth hormone deficiency ,53 cases(15 .27% )were constitu‐tional delay of growth and puberty ,50(14 .41% ) cases were familial short stature ,28 cases(8 .07% ) were precocious puberty ,in the rest of 32 cases(9 .22% ) ,the etiologies included nutritional grow th retardation ,hypothyroidism ,carti‐lage dysplasia ,renal tubular acidosis ,Turner syndrome ,premature infant ,intrauterine growth retardation ,etc .11 ca‐ses were the early maturing types of skeletal age ,108 cases were the normal skeletal age and 228 cases were the lately maturing type .The differences between the skeletal age and living age among all the cases this group were statistical‐ly significant(t= - 17 .157 ,P = 0 .000) .The skeletal age backward in idiopathic short stature( P = 0 .000) ,growth hormone deficiency ( P = 0 .000 ) ,constitutional delay of growth and puberty ( P = 0 .000 ) ,hypothyroidism ( P=0 .000) ,cartilage dysplasia(P= 0 .002) and Turner syndrome(P = 0 .003) had statistical significance ,while the ad‐vanced skeletal age in precocious puberty(P= 0 .022) had statistical significance .Conclusion The main etiologies of children with short stature in Chongqing Wanzhou area are mainly idiopathic short stature ,growth hormone deficien‐cy ,constitutional delay of growth and puberty ,familial short stature and precocious puberty .The skeletal age of chil‐dren with short stature is overall lag .The skeletal age backward in idiopathic short stature ,grow th hormone deficien

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    McPhee Ian

    2007-02-01

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

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

    Science.gov (United States)

    Schiedel, Frank; Rödl, Robert

    2012-01-01

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

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

    Science.gov (United States)

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

    2016-07-01

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

  10. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    Science.gov (United States)

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives.

  11. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

    Science.gov (United States)

    Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas

    2016-06-01

    Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. Clinical ascertainment of three similar affected patients followed by whole exome sequencing. Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. Whole exome sequencing revealed homozygous or compound heterozygous missense variants in the EXOSC2 gene in all three patients. EXOSC2 encodes the 'ribosomal RNA-processing protein 4' (RRP4)-one of the core components of the RNA exosome. The RNA exosome is a multiprotein complex that plays key roles in RNA processing and degradation. Intriguingly, the EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations in the RNA exosome core component genes EXOSC3 and EXOSC8. We report a novel condition that is probably caused by altered RNA exosome function and expands the spectrum of clinical consequences of impaired RNA metabolism. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. The Auxological and Biochemical Continuum of Short Children Born Small for Gestational Age (SGA or with Normal Birth Size (Idiopathic Short Stature

    Directory of Open Access Journals (Sweden)

    Ranke MichaelB

    2010-04-01

    Full Text Available Objective. Retrospective single-centre analysis of growth characteristics in 182 healthy short children born small for gestational age (SGA or appropriate for gestational age (idiopathic short stature, ISS. Methods. Birth size references from the USA and Sweden were compared, and for the classification as SGA or ISS the Swedish reference was chosen. Height, target height (TH, bone age (BA, predicted adult height (PAH, IGF-I and IGFBP-3 values were compared between SGA and ISS. Results. In the combined group, birth weight and length showed a symmetric Gaussian distribution. The American reference overestimates the percentage of short birth length and underestimates that of low birth weight. In childhood, SGA children were shorter than ISS (−3.1 versus −2.6 SDS, , also in comparison to TH (−2.6 versus −1.9 SDS, . TH, height SDS change over time, BA delay, and PAH were similar. IGF-I and IGFBP-3 were lower in ISS ( and .09. Conclusions. SGA children represent the left tail of the Gaussian distribution of birth size in short children. The distinction between SGA and ISS depends on birth size reference. Childhood height of SGA is lower than of ISS, but the other auxological features are similar.

  13. The Auxological and Biochemical Continuum of Short Children Born Small for Gestational Age (SGA or with Normal Birth Size (Idiopathic Short Stature

    Directory of Open Access Journals (Sweden)

    Jan M. Wit

    2010-01-01

    Full Text Available Objective. Retrospective single-centre analysis of growth characteristics in 182 healthy short children born small for gestational age (SGA or appropriate for gestational age (idiopathic short stature, ISS. Methods. Birth size references from the USA and Sweden were compared, and for the classification as SGA or ISS the Swedish reference was chosen. Height, target height (TH, bone age (BA, predicted adult height (PAH, IGF-I and IGFBP-3 values were compared between SGA and ISS. Results. In the combined group, birth weight and length showed a symmetric Gaussian distribution. The American reference overestimates the percentage of short birth length and underestimates that of low birth weight. In childhood, SGA children were shorter than ISS (−3.1 versus −2.6 SDS, P<.001, also in comparison to TH (−2.6 versus −1.9 SDS, P<.001. TH, height SDS change over time, BA delay, and PAH were similar. IGF-I and IGFBP-3 were lower in ISS (P=.03 and .09. Conclusions. SGA children represent the left tail of the Gaussian distribution of birth size in short children. The distinction between SGA and ISS depends on birth size reference. Childhood height of SGA is lower than of ISS, but the other auxological features are similar.

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

    Directory of Open Access Journals (Sweden)

    Huisman Jaap

    2005-06-01

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

  15. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    OpenAIRE

    Shakiba, Marjan; Habibe NEZHAD BIEGLARI; Mohammad Reza ALAEE

    2012-01-01

    How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4): 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us becaus...

  16. Testicular function in boys previously treated with recombinant-human growth hormone for non-growth hormone-deficient short stature.

    Science.gov (United States)

    Radicioni, A F; Paris, E; De Marco, E; Anzuini, A; Gandini, L; Lenzi, A

    2007-12-01

    Data on the effects of recombinant human GH (hGH) therapy during male puberty on future testis function are still inconclusive. The aim of this study was to investigate the long-term effects of recombinant hGH treatment on reproductive function in non-GH-deficient short stature boys. Eight boys with non-GH-deficient short stature, affected by constitutional delay of puberty or idiopathic short stature, were retrospectively studied after recombinant-hGH treatment to verify gonadal development, hormone production and semen quality. Auxological data, endocrinological/ andrological parameters and laboratory evaluation (GH, IGF-I, FSH, LH, testosterone, inhibin B) were assessed before treatment; after completion of pubertal development, the same parameters plus SHBG levels were evaluated and a seminal fluid examination was conducted (ejaculate volume, pH, sperm concentration, total sperm count, forward and total motility, morphology). All patients showed normal testicular volume at the final pubertal stage, with regular androgenization. Hormonal levels were within the normal adult range in all boys. Considering the immature reproductive system of these patients in comparison with adults, semen parameters (sperm count, motility, and morphology) were within almost normal limits, except in one patient. Although patients showed the wide fluctuation of semen values frequently observed at the end of puberty, the hypophysis-gonadal axis hormones were in the normal range in all adolescents. Pathological measurements of some seminal parameters were found in one patient only. This study suggests that recombinant hGH treatment has no detrimental effects on the development and maturation of male gonadal function in non- GH deficient short stature young patients.

  17. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    OpenAIRE

    Dutta, Usha R.; Vijaya Kumar Pidugu; Ashwin Dalal

    2012-01-01

    We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the s...

  18. Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy.

    Science.gov (United States)

    Heo, Sun Hee; Choi, Jin-Ho; Kim, Yoo-Mi; Jung, Chang-Woo; Lee, Jin; Jin, Hye Young; Kim, Gu-Hwan; Lee, Beom Hee; Shin, Choong Ho; Yoo, Han-Wook

    2013-04-01

    This study was undertaken to identify growth hormone (GH) responsive proteins and protein expression patterns by short-term recombinant human growth hormone (rhGH) therapy in patients with idiopathic short stature (ISS) using proteomic analysis. Seventeen children (14 males and three females) with ISS were included. They were treated with rhGH at a dose of 0.31 ± 0.078 mg/kg/week for 3 months. Immunodepletion of six highly-abundant serum proteins followed by 2D DIGE analysis, and subsequent MALDI TOF MS, were employed to generate a panel of proteins differentially expressed after short-term rhGH therapy and verify the differences in serum levels of specific proteins by rhGH therapy. Fourteen spots were differentially expressed after rhGH treatment. Among them, apo E and apo L-1 expression were consistently enhanced, whereas serum amyloid A was reduced after rhGH therapy. The differential expressions of these proteins were subsequently verified by Western blot analysis using sera of the before and after rhGH treatment. This study suggests that rhGH therapy influences lipoprotein metabolism and enhances apo L-1 protein expression in ISS patients. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

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

    Science.gov (United States)

    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 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 adults. PMID:27761335

  20. 学龄期矮小儿童的自我意识水平探讨%Exploration on the self - concept level of school - age children with short stature

    Institute of Scientific and Technical Information of China (English)

    任丽颖; 苟伟会; 邢杰

    2011-01-01

    Objective: To explore the self - concept level of school - age children with short stature.Methods: Piers - Harris Children's self-concept scale and a self- designed growth environment factors (family environment and school environment) questionnaire were used to survey 60 children with short stature and 60 children with normal height, their self - concept levels were researched and compared.Results: In the situation of equal growth environment, the levels of various factors ( including behaviour, intelligence and school situation, body appearance and nature, affiliation, happiness and satisfaction, except anxiety factor) and the total score of self- concept in short stature group were significantly lower than those in control group ( P < 0.05 ).Conclusion: The self - concept level of school - age children with short stature is low; the psychological behaviour problems of the school - age children with short stature can not be ignored at the same time of related and necessary treatment from medical workers, thus, it is necessary to give health instruction of psychological behaviour to the school -age children with short stature.%目的:探讨学龄期矮小儿童的自我意识水平.方法:采用Piers-Harris儿童自我意识量表(Children selfconcept scale)和自制成长环境因素(家庭环境和学校环境)调查问卷,对在吉林大学第二医院儿童保健门诊就诊的60例矮小儿童及60例身高正常儿童进行测试及问卷调查,研究其自我意识水平并加以比较.结果:两组儿童在成长环境一致的情况下,矮小儿童组除焦虑因子外,其余各因子水平如行为、智力与学校情况、躯体外貌与属性、合群、幸福与满足感及儿童自我意识总分均低于对照组各因子水平,两组比较差异有统计学意义(P<0.05).结论:学龄期矮小儿童的自我意识水平普遍偏低.医务工作者对学龄期矮小儿童在进行相关必要治疗的同时,其心理行为问题不可忽视,

  1. Study on self-concept of children with obesity and short stature%肥胖及矮小儿童自我意识分析

    Institute of Scientific and Technical Information of China (English)

    丁大为; 钟燕; 刘康香

    2011-01-01

    目的 调查肥胖及矮小儿童自我意识水平,探讨其与正常儿童自我意识方面的差异.方法 2008年8月至2008年12月用Piers-Harris儿童自我意识量表对湖南省长沙市7所中学中86例肥胖及69例矮小儿童进行心理健康调查.结果 肥胖儿童在行为、躯体外貌、合群、焦虑及自我意识总分得分均低于全国常模水平,差异有统计学意义(P< 0.05或0.01);肥胖儿童在智力与学校及幸福与满足两个分量表得分与全国常模水平的差异无统计学意义(P均>0.05).矮小儿童在行为、躯体外貌、幸福与满足、合群及自我意识总分得分均低于全国常模水平,差异有统计学意义(P< 0.05或0.01);矮小儿童在智力与学校表现及焦虑两个分量表得分与全国常模水平差异无统计学意义(P均> 0.05).结论 肥胖及矮小儿童自我意识水平较正常同龄儿童低,且其自我意识水平高低程度不一.青少年的自我意识水平与躯体疾病密切相关,有必要在医学治疗的基础上加入相应的心理干预措施以促进其身心健康.%Objectives To investigate the level of self-concept of children with obesity and short stature, and to compare the level of self-concept of them with normal children. Methods Piers-Harris Children' s Self-concept Scale was used in 86 obesity children and 69 short stature children in Changsha. Results Obesity children scored significantly lower than normal children on the total scores of self-concept, especially on sub-scales of behavior, sociability, anxiety, body and appearance; there were no significant differences in the sub-scales of well-being and satisfaction, intelligence and school appearance between obese children and normal children.Short stature children scored significantly lower on the total scores of self-concept, especially on sub-scales of behavior, body and appearance, gregarization, well-being and satisfaction , than normal children; there were no

  2. Growth hormone treatment in children with short stature born small for gestational age: 5-year results of a randomized, double-blind, dose-response trial

    OpenAIRE

    Sas, Theo; Waal, Wouter; Houdijk, M.; Jansen, Maarten; Reeser, M.; Mulder, Paul; Hokken-Koelega, Anita

    1999-01-01

    textabstractThe growth-promoting effect of continuous GH treatment was evaluated over 5 yr in 79 children with short stature (height SD score, less than -1.88) born small for gestational age (SGA; birth length SD score, less than -1.88). Patients were randomly and blindly assigned to 1 of 2 GH dosage groups (3 vs. 6 IU/m2 body surface-day). GH deficiency was not an exclusion criterium. After 5 yr of GH treatment almost every child had reached a height well within the normal range for healthy ...

  3. FBN1 gene mutation defines the profibrillin to fibrillin processing site and segregates with tall stature in a family

    Energy Technology Data Exchange (ETDEWEB)

    Grossfield, J.; Cao, S.; Milewicz, D. [Univ. of Texas Medical School, Houston, TX (United States)] [and others

    1994-09-01

    Dermal fibroblasts from a 13-year-old boy with skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Synthesis and secretion of profibrillin was normal but only half of the secreted profibrillin was converted to fibrillin, an extracellular proteolytic processing that removes a 20 kDa fragment from the protein. All the secreted profibrillin was processed to fibrillin in control cells. Only the processed form of fibrillin was deposited into the extracellular matrix in both the proband`s and the control cells. Electron microscopic examination of rotary shadowed microfibrils made by the proband`s fibroblasts were indistinguishable from control cells. Screening exons in the 3{prime} end of the FBN1 gene revealed a heterozygous C to T transition at nucleotide 5482 of the FBN1 cDNA changing R 1828 to W. This mutation disrupts a known consensus sequence recognized by a cellular protease and is located in the carboxy terminus at a site predicted to remove a 19 kD fragment. The proband and his 22-year-old brother, also heterozygous for the mutation, have had normal echocardiograms and ophthalmologic exams. The mutation segregated in the proband`s three generation family with autosomal dominant inheritance of height (> 90th percentile) and no known cardiovascular or ocular problems, including the 67-year-old grandmother (exams pending). The mutation was not found in 90 chromosomes from unrelated individuals. In summary, (1) the mutation identifies the cleavage site for the conversion of profibrillin to fibrillin; (2) the characterized mutation segregates in the family with tall stature without known cardiovascular or ocular problems; (3) this mutation potentially defines the phenotype associated with a {open_quotes}null{close_quotes} allele for the FBN1 gene.

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

    Science.gov (United States)

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

    2011-02-01

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

  5. Research Progress of Psychosocial Functioning of Children with Short Stature%矮小症儿童的心理社会功能研究进展

    Institute of Scientific and Technical Information of China (English)

    徐璇

    2013-01-01

    Children with short stature are defined as the children whose height is more than the 2 standard deviations( SDs )below the mean or lower than the 3rd percentile of normal healthy child growth curve of the same age,gender and race. The complicated pathology,high treatment cost and long treatment circle make the parents lack of confidence about the social stability of the children. Researches on the psychological and social state of short stature children especially those who received hormone replacement therapy,were done in recent years and here is to make a brief review on the studies.%矮小儿童是指身高处于同种族、同年龄、同性别正常健康儿童生长曲线第3百分位数以下,或低于2 个标准差的儿童.其病因多样,治疗花费昂贵,激素替代治疗周期长,造成矮小症的儿童及家长对孩子的社会稳定性缺乏信心.国内外学者对于矮小症儿童尤其是接受激素替代治疗的矮小症儿童的心理社会状况做了一定的研究,现对这些研究进行简要综述.

  6. Linking a short-stature specific health-related quality of life measure (QoLISSY) to the International Classification of Functioning - Children and Youth (ICF-CY).

    Science.gov (United States)

    Sommer, Rachel; Bullinger, Monika; Rohenkohl, Anja; Quitmann, Julia; Brütt, Anna Levke

    2015-01-01

    The study aimed to examine and compare the content of the quality of life in short-stature youth questionnaire (QoLISSY) with the International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY). Items of the QoLISSY questionnaire for children/adolescents and their parents were coded within the framework of the ICF-CY. Linkage was performed according to predetermined standards by two health professionals experienced in the conceptual fundaments of the ICF-CY. Within the linking process 58 meaningful concepts were identified from the 55 items out of the QoLISSY parent questionnaire and 55 meaningful concepts from the 50 items of the QoLISSY (children) questionnaire. In total, 57 concepts (parent-questionnaire) and 54 concepts (children-questionnaire) were linked to the different categories of the ICF-CY. Twenty-seven categories (parents-version) and 20 categories (child-version) referred to the component body functions, 34 categories (parent-version) and 30 categories (child-version) represented the activity and participation component and in each version 30 categories represented the environmental factors component. The present study indicates that the ICF-CY provides a useful frame of reference to compare and examine the content of HrQoL instruments for short-statured children and adolescents and their parents. The linkage of the QoLISSY instrument within the framework of the ICF-CY translates its content into a universal language.

  7. A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty Anemia

    Directory of Open Access Journals (Sweden)

    Seung Min Song

    2010-05-01

    Full Text Available Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/ or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe anemia with a hemoglobin level of 3.3 g/dL. He had a history of small bowel resection from 50 cm below the Treitz ligament to 5 cm above the ileocecal valve necessitated by midgut volvulus in the neonatal period. Laboratory tests showed deficiencies of both vitamin B12 and iron. A bone marrow examination revealed dyserythropoiesis and low levels of hemosiderin particles, and a cytogenetic study disclosed a normal karyotype. After treatment with parenteral vitamin B12 and elemental iron, both anemia and growth showed gradual improvement. This is a rare case that presented with short stature and delayed puberty caused by nutritional deficiency anemia in Korea.

  8. Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea.

    Science.gov (United States)

    Dutta, Usha R; Pidugu, Vijaya Kumar; Dalal, Ashwin

    2012-01-01

    We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

  9. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    Directory of Open Access Journals (Sweden)

    Usha R. Dutta

    2012-01-01

    Full Text Available We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19(p11.2;p13.3[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

  10. 山东济宁地区270例矮小症病因及诊断线索分析%Etiologic and diagnostic analysis of 270 children with short stature in China Jining region

    Institute of Scientific and Technical Information of China (English)

    班博; 潘慧; 邵倩; 张梅; 孙海玲; 李萍

    2014-01-01

    Objective To explore the etiology of two hundred and seventy children with short stature and the diagnostic clue.Methods Two hundred and seventy children of outpatient were collected from April 201 3 to April 201 4 in the Growth and Development Department of Affiliated Hospital of Jining Medical College.Among them,one hundred and seventy-nine were males (66.30%),ninty-one were females (33.70%).All of the children were collected detail medical history and taken both physical and laboratory examinations.Results There were 1 8 kinds of causes of short stature in two hundred and seventy children, the top five respectively were:one hundred and fifty cases (55.56%)diagnosed as growth hormone deficiency (GHD),eight-one cases (30.00%)with idiopathic short stature (ISS),eleven cases (2.59%)with hypothyroidism,seven cases(2.59%)with small for gestational age (SGA),seven cases (2.59%)with turner syndrome (TS).In addition,two cases (0.74%)of pituitary stalk interruption,while the neurofibromatosis, familial short stature,constitutional delayed puberty,precocious puberty,rickets,Bartter syndrome,Russell-Silver syndrome,Kallmann syndrome and pituitary space-occupying lesions were each one cases(total 3.33%). There were three cases(1 .1 1 %)combined with other chronic diseases.Forty-nine children(1 8.1 4%)were under 7 years old.Among them,thirty-seven were males,twevele were females,and the main reason for these children with short stature were GHD,ISS and SGA.One hundred and forty-six children were among 7-1 3 years old,among them,eighty-two were males,sixty-four were females.seventy-five children were among 1 3-1 8 years old,sixty were males,fifteen were females,and the same main etiologies for these two groups were all GHD,ISS and hehypothyroidism disease.Conclusions The etiologies of children with short stature of Shandong Jining region are complex.The clinical manifestations of short stature are different,and the correct diagnosis and appropriate treatment is very important

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

    Science.gov (United States)

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

    2016-01-01

    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. 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 158.7 cm; and (3) body mass index > 25 kg/m(2). Socioeconomic, anthropometric, biochemical, and body image data were collected. We analyzed 56 SS and 57 NS women. 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 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 R(2)-Nagelkerke = 0.107, and the NS coefficients values were β = 0.307, SE = 0.058, and R(2)-Nagelkerke = 0.491 (Z = 2.006; p women and 14 out of 33 (42.4%) NS women perceived themselves as obese (χ(2) = 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 (p = 0.04). Overweight/obese, low-income SS women have more central adiposity and impaired self-body image perception, and the body mass index is a weaker predictor of it, compared to NS women. Misperception about body size may be linked with an overestimation of

  12. Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency

    DEFF Research Database (Denmark)

    Lee, Peter A; Sävendahl, Lars; Oliver, Isabelle

    2012-01-01

    Few studies have compared the response to growth hormone (GH) treatment between indications such as isolated growth hormone deficiency (IGHD), born small for gestational age (SGA), idiopathic short stature (ISS), and multiple pituitary hormone deficiency (MPHD). The aim of this analysis of data......, collected from two large ongoing observational outcome studies, was to evaluate growth and insulin-like growth factor-I (IGF-I) response data for children of short stature with IGHD, MPHD, SGA, or ISS following two years of treatment with the recombinant GH product Norditropin® (Novo Nordisk A/S, Bagsværd...

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

    DEFF Research Database (Denmark)

    Lundberg, Michael; Diderichsen, Finn; Hallqvist, Johan

    2002-01-01

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

  14. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    Directory of Open Access Journals (Sweden)

    Marjan SHAKIBA

    2012-10-01

    Full Text Available Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD, Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    population-based cohort studies and the WHO Global Survey on Maternal and Perinatal Health (13 of 24 available data sets used) from low- and middle-income countries (LMIC). We included those with weight taken within 72 h of birth, gestational age, and maternal height data (n = 177,000). For each....../or preterm births in LMIC may be associated with short maternal stature annually. A reduction in this burden requires primary prevention of SGA, improvement in postnatal growth through early childhood, and possibly further intervention in late childhood and adolescence. It is vital for researchers to broaden......BACKGROUND: Small-for-gestational-age (SGA) and preterm births are associated with adverse health consequences, including neonatal and infant mortality, childhood undernutrition, and adulthood chronic disease. OBJECTIVES: The specific aims of this study were to estimate the association between...

  16. Body composition, blood pressure, and lipid metabolism before and during long-term growth hormone (GH) treatment in children with short stature born small for gestational age either with or without GH deficiency

    NARCIS (Netherlands)

    T.C.J. Sas (Theo); P.G.H. Mulder (Paul); A.C.S. Hokken-Koelega (Anita)

    2000-01-01

    textabstractTo assess the effects of long-term continuous GH treatment on body composition, blood pressure (BP), and lipid metabolism in children with short stature born small for gestational age (SGA), body mass index (BMI), skinfold thickness measurements, systemic BP

  17. Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature.

    NARCIS (Netherlands)

    Kordelaar, S. van; Noordam, C.; Otten, B.J.; Bergh, J.P.W. van den

    2003-01-01

    To evaluate the effect of gonadotrophin-releasing hormone (GnRH) agonist treatment on bone quality at final height, we studied girls with central precocious puberty (CPP) and with idiopathic short stature (ISS). A total of 25 Caucasian girls were included: group A (n=14) with idiopathic CPP (mean ag

  18. Added Centimetres and Their Repercussions: How effective and safe is growth hormone in the treatment of short stature in girls with Turner syndrome and in children born small for gestational age?

    NARCIS (Netherlands)

    Y.K. van Pareren (Yvonne)

    2006-01-01

    textabstractThe most common clinical characteristic of Turner syndrome (TS) is short stature. Although girls with TS are not growth hormone (GH) deficient, studies show that long-term GH treatment in TS leads to normalisation of height during childhood. In this chapter the results and conclusions

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

    NARCIS (Netherlands)

    Frints, S.G.; Jun, L.; Fryns, J.P.; Devriendt, K.; Teulingkx, R.; Berghe, L. van den; Vos, B. de; Borghgraef, M.; Chelly, J.; Portes, V. des; Bokhoven, J.H.L.M. van; Hamel, B.C.J.; Ropers, H.H.; Kalscheuer, V.M.M.; Raynaud, M.; Moraine, C.; Marynen, P.; Froyen, G.

    2003-01-01

    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 clinic

  20. De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-09-01

    Conclusion: A duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in female patients can be associated with clinical manifestations of mental retardation in addition to short stature and premature ovarian failure.

  1. Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

    NARCIS (Netherlands)

    Lugtenberg, D.; Brouwer, A.P.M. de; Oudakker, A.R.; Pfundt, R.P.; Hamel, B.C.J.; Bokhoven, H. van; Bongers, E.M.H.F.

    2009-01-01

    In a man with severe mental retardation, minor facial and genital anomalies, disproportionate short stature and a broad thorax, we identified a de novo Xq13.2q21.1 duplication by array CGH. This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX

  2. Etiology and bone age of 2132 children with short stature%2132例矮小症患儿病因及骨龄分析

    Institute of Scientific and Technical Information of China (English)

    武苏; 汪素美; 朱子阳; 顾威; 倪世宁; 石星; 刘倩琦

    2015-01-01

    目的:探讨矮小症患儿的病因分类及其骨龄落后情况。方法回顾性分析2009年1月至2014年12月住院治疗2132例矮小症患儿的临床资料。结果2132例矮小症患儿中男1333例、女799例,平均年龄(9.03±3.04)岁,平均骨龄(6.81±3.05岁);完全性生长激素缺乏症324例(15.20%),部分性生长激素缺乏症780例(36.58%),多垂体激素缺乏症27例(1.27%),甲状腺功能减低症13例(0.61%),特发性矮小893例(41.89%),低出生体质量儿19例(0.89%);骨骼发育障碍8例(0.38%),颅内肿瘤13例(0.61%),慢性系统性疾病15例(0.70%),染色体疾病40例(1.88%)。ANOVA分析显示,不同病因组骨龄落后情况不同,多垂体激素缺乏症、颅内肿瘤导致的矮小症骨龄落后较其余各病因组明显。生长激素峰值与骨龄落后值之间存在负相关关系。结论生长激素缺乏症是矮小症最常见病因。矮小症患儿普遍存在骨龄落后,骨龄落后值与生长激素峰值之间存在负相关关系,联合激素缺乏对骨龄的影响更为显著。%ObjectiveThe aim of this study is to analyze the etiology and status of bone age of children with short stat-ure.MethodsAnthropological and physical examination data were retrospectively collected and studied in 2132 children with short stature in the department of endocrinology between 2009 and 2014. Growth hormone (GH) levels were determined by ar-ginine-clonidine test. Bone age was determined by CHN scoring.ResultsAmong the 2132 patients, 1333 were males and 799 were females. Mean age is 9.03 ± 3.04 years old, mean bone age is 6.81 ± 3.05 years. Of them, 324 cases (15.2%) were diagnosed complete GH deifciency, 780 cases (36.59%) were partial GH deifciency, 27cases (1.27%) were multiple pituitary hormone de-ifciency, 13 cases (1.64%) were hypothyroidism, 893 cases (41.89%) were idiopathic short stature, 19 cases (0.89%) were small for gestational age (SGA), 40 cases (1.88%) were

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

    Science.gov (United States)

    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, we 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-12-01

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

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

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    Nassib Bezerra Bueno

    2016-10-01

    Full Text Available 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 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 (p = 0

  6. GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.

    Science.gov (United States)

    Tauber, M; Ester, W; Auriol, F; Molinas, C; Fauvel, J; Caliebe, J; Nugent, T; Fryklund, L; Ranke, M B; Savage, M O; Clark, A J L; Johnston, L B; Hokken-Koelega, A C S

    2007-09-01

    The polymorphic deletion of exon 3 of the GH receptor (d3-GHR) has recently been linked to the magnitude of growth response to recombinant human GH (rhGH) therapy in short children with or without GH deficiency. We investigated this association in a large multinational cohort from the Network of European Studies of Genes in Growth (NESTEGG), comprising short children born small for gestational age (SGA). The study included short prepubertal SGA children treated with rhGH for 1 or 2 years. Two hundred and forty white Caucasian SGA children (138 male, 102 female) aged 6.6 +/- 2.3 years with a height at -3.0 +/- 0.7 SDS at start of rhGH treatment; 193 ethnically matched controls. The GHR polymorphism (fl/fl, fl/d3 or d3/d3) was genotyped by polymerase chain reaction (PCR) multiplex assay. Growth velocity (G/V) in cm/year and changes in GV during the first and second year of rhGH treatment were evaluated. The change in GV was significantly greater in SGA children carrying one or two copies of the d3-GHR allele (P = 0.038 for the first year and P = 0.041 for the second year of GH treatment), but the change in height was not significantly different. Birthweight was significantly lower in SGA children with the d3/d3 genotype than in SGA children with the fl/fl genotype (P = 0.034) and in those with the fl/d3 genotype (P = 0.016). Our data, based on a large cohort, showed that the exon 3 GHR polymorphism is associated with responsiveness to rhGH treatment in SGA children with short stature.

  7. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

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    Marjan SHAKIBA

    2013-01-01

    Full Text Available How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4: 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD, Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.References: Lohmann W, Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch Augenheilkunde.1920;86:136-41.Berliner ML. Unilateral microphthalmia with congenital anterior synechiae and syndactyly. Arch Ophthalm. 1941;26:653-60.Bauer KH. Homoio transplantation von Epidermis bei eineiigen Zwillingen. Beitr Klin Chir. 1927;141:442-7.Pitter J, Svejda J. [The effect of x-rays as a cause of fetal misdevelopment]. Ophthalmologica. 1952 Jun;123(6:386-93.Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol. 1979 May;97(5:878-84.Reardon W, Harbord MG, Hall-Craggs MA, Kendall B, Brett EM, Baraitser M. Central nervous system malformation in Mohr´s syndrome. J Med Genet. 1989 Oct;26(10:659-63.Ciliz D, Czturk S,Sakman B

  8. Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS).

    Science.gov (United States)

    Ko, Jung Min; Park, Jung Young; Yoo, Han-Wook

    2009-01-01

    A human GH receptor (GHR) gene exon 3 polymorphism (d3-GHR) has been reported to be associated with responsiveness to GH therapy. We assessed the frequencies of this polymorphism in Korean control and idiopathic short stature (ISS) populations, and analysed short-term growth response to GH therapy according to GHR-exon 3 genotypes in Korean children with ISS. This was a retrospective study in 158 ISS children. Auxological and endocrine parameters were measured, and the GHR-exon 3 genotype was analysed. Allelic frequencies of GHR-exon 3 genotype were compared between the ISS group and a control group. GH had been administered for 62 patients, 52 of whom remained prepubertal after the first follow-up year. Changes in height velocity (HV) and IGF-1 and IGFBP-3 concentrations following GH therapy were compared in patients with these genotypes. There was no difference in GHR-exon 3 genotype frequency between ISS and control groups of Koreans. However, the fl/fl genotype was more frequent in Koreans than in Caucasians. ISS children with d3-GHR showed a significantly higher increment in HV (P = 0.002) and a marginally significant increment in IGF-1 concentration (P = 0.064) at the first year of GH therapy. fl-GHR was more frequently detected in a Korean population than in Caucasians. The growth promotion efficacy of GH therapy differed significantly between ISS patients with and without the d3-GHR allele. These findings indicate that the GHR-exon 3 polymorphism can affect the growth promoting efficacy of short-term GH therapy in Korean children with ISS.

  9. Subclassification of small for gestational age children with persistent short stature: growth patterns and response to GH treatment.

    Science.gov (United States)

    Ester, Wietske; Bannink, Ellen; van Dijk, Marije; Willemsen, Ruben; van der Kaay, Danielle; de Ridder, Maria; Hokken-Koelega, Anita

    2008-01-01

    We determined whether subclassification of short small for gestational age (SGA) children according to birth anthropometrics could delineate different patterns in gestation, delivery, postnatal growth, response to growth hormone (GH) treatment and parental height. 201 short SGA children were divided into three groups, SGA(L), SGA(L+W) and SGA(L+W+HC), according to birth length (L), weight (W) and head circumference (HC) < or =-2.00 standard deviation score (SDS). SGA(L+W+HC) children were born after the shortest gestational age and more often by caesarean section than SGA(L) children (36.3 vs. 38.1 weeks, 68.4 vs. 24.4%). SGA(L+W) children had an intermediate pattern and experienced most gestational hypertension (p = 0.01). At birth, SGA(L+W+HC) children were shorter than SGA(L) or SGA(L+W) (-4.12 vs. -2.67 and -3.72 SDS, p < or = 0.001). During the first 3 years of life, SGA(L+W+HC) children exhibited an increased growth in height (0.98 SDS) and HC (1.28 SDS) than SGA(L) (height, -0.06 SDS; HC, -0.30 SDS) and SGA(L+W) (height, 0.62 SDS; HC, -0.31 SDS). However, HC SDS remained smaller for SGA(L+W+HC) than the other groups at age 3. The groups did not differ in growth response during GH treatment. SGA(L) children tended to have shorter parents and target height than SGA(L+W+HC) children. Our study shows that subclassification of short SGA children might be a useful method for investigating SGA children as the subgroups revealed a different gestation, delivery and postnatal growth pattern. Response to GH treatment was not different between the groups. (c) 2007 S. Karger AG, Basel

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

    Science.gov (United States)

    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 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.

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

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    Khutoryansky Naum

    2011-07-01

    Full Text Available Abstract 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.

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

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    Luz Stella Álvarez Castaño

    2013-09-01

    Full Text Available 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 5,556 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.

  13. 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.

    Science.gov (United States)

    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.

  14. Evaluation of growth hormone release and human growth hormone treatment in children with cranial irradiation-associated short stature

    Energy Technology Data Exchange (ETDEWEB)

    Romshe, C.A.; Zipf, W.B.; Miser, A.; Miser, J.; Sotos, J.F.; Newton, W.A.

    1984-02-01

    We studied nine children who had received cranial irradiation for various malignancies and subsequently experienced decreased growth velocity. Their response to standard growth hormone stimulation and release tests were compared with that in seven children with classic GH deficiency and in 24 short normal control subjects. With arginine and L-dopa stimulation, six of nine patients who received radiation had a normal GH response (greater than 7 ng/ml), whereas by design none of the GH deficient and all of the normal children had a positive response. Only two of nine patients had a normal response to insulin hypoglycemia, with no significant differences in the mean maximal response of the radiation and the GH-deficient groups. Pulsatile secretion was not significantly different in the radiation and GH-deficient groups, but was different in the radiation and normal groups. All subjects in the GH-deficient and radiation groups were given human growth hormone for 1 year. Growth velocity increased in all, with no significant difference in the response of the two groups when comparing the z scores for growth velocity of each subject's bone age. We recommend a 6-month trial of hGH in children who have had cranial radiation and are in prolonged remission with a decreased growth velocity, as there is no completely reliable combination of GH stimulation or release tests to determine their response.

  15. Soropositividade para doença celíaca em crianças e adolescentes com baixa estatura Seropositivity for celiac disease in children and adolescents with short stature

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    Ana Carla L. N. Gueiros

    2009-03-01

    Full Text Available OBJETIVO: Avaliar a frequência da positividade do marcador sorológico para doença celíaca em crianças e adolescentes com baixa estatura, utilizando-se o anticorpo anti-transglutaminase humana como teste de triagem. MÉTODOS: Estudo descritivo com amostra obtida por conveniência. Foi realizado no período de abril a setembro de 2004 no Ambulatório Geral de Pediatria do Instituto Materno Infantil Professor Fernando Figueira e no Ambulatório de Crescimento e Desenvolvimento do Hospital das Clínicas. Foram considerados casos as crianças e os adolescentes portadores de baixa estatura, definida como aquela abaixo do percentil 3 para idade e sexo, utilizando como referência o gráfico de altura/idade do National Center for Health Statistics, 2000. Foi pesquisado o anticorpo anti-transglutaminase humana (AATGh, considerado positivo se concentração >20U/mL e, nos positivos, o anticorpo antiendomísio (AAE. RESULTADOS: Foram avaliados 78 pacientes, sendo 41 (53% do sexo feminino. O AATGh foi positivo em 3/78 (3,8% dos pacientes. O AAE foi positivo em um paciente, naquele com concentração mais elevada do AATGh. Considerando-se a positividade para os dois testes, a soropositividade foi de 1,3%. CONCLUSÕES: A presença de marcador sorológico para doença celíaca em crianças e adolescentes portadoras de baixa-estatura e pertencentes a famílias de baixa-renda aponta para a necessidade de investigação sistemática da doença celíaca nesses pacientes.OBJECTIVE: To assess the frequency of positive serological marker for celiac disease in children and adolescents with short stature using the human antibody anti-transglutaminase as a screening test. METHODS: This cross-sectional study was conducted from April to September/2004 with 78 children and adolescents selected by convenience when attending the outpatient clinic of two university hospitals of Recife, Northeast Brazil. Cases were children and adolescents with short stature, defined as

  16. Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity

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    Crinò Antonino

    2009-03-01

    Full Text Available Abstract Background Melanocortin-4-receptor (MC4R mutations represent the most frequent genetic cause of non-syndromic early onset obesity. Children carrying MC4R mutations seem to show a particular phenotype characterized by early onset, severe obesity and high stature. To verify whether MC4R mutations are associated with this particular phenotype in the Italian pediatric population, we decided to screen the MC4R gene in a group of obese children selected on the basis of their phenotype. Methods To perform this study, a multicentric approach was designed. Particularly, to be enrolled in the study subjects needed to meet the following criteria: Body mass index ≥ 3 deviation scores according to age and sex, familiar history of obesity (at least one parent obese, obesity onset before the 10 years old, height ≥ 2 deviation scores. The coding region of MC4R gene was screened in 240 obese children (mean age 8.3 ± 3.1, mean BMI 30.8 ± 5.4 and in 200 controls (mean age 8.1 ± 2.8; mean BMI 14.2 ± 2.5. Results Three mutations have been found in five obese children. The S127L (C380T, found in three unrelated children, had been described and functionally characterized previously. The Q307X (C919T and the Y332H (T994C mutations were found in two patients. Functional studies showed that only Q307X impaired protein function. Conclusion The low prevalence of MC4R mutations (1.6% in this group of obese children selected according to the obesity degree, the tall stature and the family history of obesity was similar to the prevalence observed in previous screenings performed in obese adults and in not phenotypically selected obese children.

  17. Intelligence and attention of children with idiopathic short stature%特发性矮小患儿智力与注意力分析

    Institute of Scientific and Technical Information of China (English)

    胡曼; 麻宏伟; 王丽波; 王琳; 任爽; 谭迎花

    2011-01-01

    [Objective] To investigate idiopathic short stature (ISS) children's intelligence level and intelligence structure, and its continued attention to the situation. [Methods! The intelligence were tested by Wechsler Intelligence Scale for Children- Chinese (C-WISC) in 32 children with ISS and in 32 normal children; and attention were tested by the integrated visual and auditory continuous performance test0. 05). But the knowledge scale score of the verbal scale was significantly higher (P0. 05). [Conclusion! ISS children have normal intelligence, but intelligence structural is imbalances; ISS children are more likely with attention deficit hyperactivity disorder than the control group.%目的 探讨特发性矮小(idiopathic short stature,ISS)患儿的智力水平和智力结构以及其持续注意力状况 方法 采用中国韦氏儿童智力量表(C-W1SC)对32例ISS患儿的智力结构进行测试,并与32例年龄和性别相匹配的正常儿童进行对照研究;且采用视听整合持续操作测试系统(IVA-CPT)对其中29例患儿进行了注意力测试 结果 ISS组的总智商(full intelligence quotient,FIQ)、言语智商(verbal IQ,VIQ)和操作智商(performance IQ,PIQ)均在正常范围,与对照组比较差异无统计学意义(P>0 05),但言语量表中的知识量表分高于对照组(P<0 05),而操作量表中的图片排列量表分低于对照组(P<0 05);两组PIQ与VIQ差值率比较,ISS组高于对照组(P<0 05) ISS组综合注意商数、视觉注意力商数、听觉谨慎商数、视觉警醒商数低于对照组,差异有统计学意义(P<0 05),其余商数两组得分差异无统计学意义(P>0 05) 结论 ISS患儿智力水平正常,但智力结构不平衡;ISS患儿比对照组更容易发生注意缺陷多动障碍.

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

    Science.gov (United States)

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

    2015-09-01

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

  19. Short stature in children and adolescence. Causes, diagnosis and treatment. Talla baja en niños y adolescentes: causas, diagnóstico y tratamiento.

    Directory of Open Access Journals (Sweden)

    Inés Martínez Fernández

    Full Text Available Growth is a biological and dynamic process that begins with fecundation and ends at the final stage of adolescence. Its development is complex and different factors intervene in it. Short stature is the most frequent growth disorder in the daily medical practice; furthermore, it is the entity that produces concern and dissent in the patient and his/her relatives. To recognize and to treat early this growth and development altered in our children and adolescence permits us to adopt diagnosis strategies and treatment that favor his/her recovery. A revision was performed with the aim to expose tools which permit health professionals to identify a patient with this disorder at early stage, and to develop behaviors for its correction in order to achieve a better life quality in pediatric patients.
    El crecimiento es un proceso biológico y dinámico que se inicia con la fecundación y termina al finalizar la adolescencia. Su evolución es compleja y en él intervienen diferentes factores. La talla baja es el trastorno del crecimiento más frecuente en la práctica médica diaria y además, es la entidad que más preocupación e inconformidad crea en el paciente y en sus familiares. Saber reconocer y tratar precozmente las alteraciones en el crecimiento y desarrollo de nuestros niños y adolescentes, permite adoptar estrategias de diagnóstico y tratamiento que favorezcan su recuperación. Se realizó una revisión con el objetivo de exponer herramientas que permitan a los profesionales de la salud identificar precozmente a un paciente con este trastorno y desarrollar conductas para su corrección y de esta forma lograr una mejor calidad de vida en los pacientes pediátricos.

  20. Familial short fifth metacarpals and insulin resistance

    Energy Technology Data Exchange (ETDEWEB)

    Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Ajlouni, Kamel [National Center for Diabetes, Endocrinology and Genetics, P.O. Box 13165, Amman (Jordan); Al-Hadidy, Azmy [Jordan University Hospital, Department of Radiology, Amman (Jordan)

    2006-09-15

    Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. (orig.)

  1. 综合干预矮身材青少年焦虑情绪的疗效分析%Analysis on the curative effect of comprehensive intervention on anxious emotion of the teenagers with short stature

    Institute of Scientific and Technical Information of China (English)

    姜志红; 马志萍; 李俊玲; 李曦

    2012-01-01

    Objective: To explore the curative effect of psychological consultation combined with growth hormone (GH) for treatment of anxious emotion of short teenagers. Methods: Physical examination table and self - rating anxiety scale ( SAS) were used to screened out 16 teenagers with short stature and 35 teenagers with comparatively short stature from 1 000 middle school students, then they were divided into psychotherapy group, GH plus psychotherapy group, and control group. Psychological consultation was conducted once a week, secretory recombinant human GH was applied by subcutaneous injection at 30 munites before sleeping according the dose of 0.15 ~ 0. 20 IU·kg-1·d-1, once a day. SAS was carried out before and after trealment. Results: The mean values of SAS in GH plus psychotherapy group and psychotherapy group after treatment were significantly lower than those before treatment. The mean value of SAS in GH plus psychotherapy group was significantly lower than that in psychotherapy group, while the mean value of SAS in control group after treatment was significantly higher than those in the other two groups, there was statistically significant difference. Conclusion: The teenagers with short stature lead to anxious emotion easily, the curative effect of GH combined with psychotherapy is superior to the curative effect of simple psychotherapy for relieving anxious emotion of the teenagers with short stature.%目的:探索心理咨询结合生长激素(GH)治疗矮身材青少年焦虑情绪的方法.方法:用体格检查表、《焦虑自评量表》(SAS)从1 000名中学生中筛查出有焦虑性情绪的16名矮身材、35名偏矮身材青少年,分为心理治疗组、GH结合心理治疗组,未治疗的对照组.心理咨询治疗每周做1次,分泌型重组人GH按照剂量0.15 ~0.20 IU·kg-1·d-1,每天1次,于晚上睡觉前30min皮下注射.治疗前后进行SAS评定.结果:GH结合心理治疗组、心理治疗组的SAS标准分平均值低于治

  2. Comparison of response to 2-years’ growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies

    Directory of Open Access Journals (Sweden)

    Lee Peter A

    2012-07-01

    Full Text Available Abstract Background Few studies have compared the response to growth hormone (GH treatment between indications such as isolated growth hormone deficiency (IGHD, born small for gestational age (SGA, idiopathic short stature (ISS, and multiple pituitary hormone deficiency (MPHD. The aim of this analysis of data, collected from two large ongoing observational outcome studies, was to evaluate growth and insulin-like growth factor-I (IGF-I response data for children of short stature with IGHD, MPHD, SGA, or ISS following two years of treatment with the recombinant GH product Norditropin® (Novo Nordisk A/S, Bagsværd, Denmark. Methods Analysis of auxologic data from two ongoing prospective observational studies, NordiNet® International Outcomes Study (NordiNet® IOS and NovoNet®/American Norditropin® Studies: Web-enabled Research (ANSWER Program®. Results 4,582 children aged p = 0.047; p  0.001 vs. IGHD, respectively. Height gain was comparable between IGHD and MPHD. In pre-pubertal children vs. total population, height SDS change after two years was: IGHD, +1.24 vs. +0.97; SGA, +1.17 vs. +1.03; ISS, +1.04 vs. +0.84; and MPHD, +1.16 vs. +0.99 (all p  Conclusions After two years’ GH treatment, change in height SDS was greater in SGA and less in ISS, compared with IGHD; the discrepancy in responses may be due to the disease nature or confounders (i.e. age. Height SDS increase was greatest in pre-pubertal children, supporting early treatment initiation to optimize growth outcomes.

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

    Science.gov (United States)

    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)

  4. Tall stature : morbidity, mortality and treatment outcomes

    OpenAIRE

    Benyi, Emelie

    2016-01-01

    Tall stature is usually constitutional. In some cases excessive growth is caused by early puberty and in others by growth disorders such as Marfan syndrome or pituitary gigantism. Some individuals experience a substantial negative psychosocial impact from being tall which can cause them and their families to seek medical attention. Whether or not to reduce adult height is an ethical dilemma where the psychological benefits must be weighed carefully against possible health complications. For o...

  5. The relationship between adult stature and longevity: tall men are unlikely to outlive their short peers – evidence from a study of all adult deaths in Poland in the years 2004–2008

    Directory of Open Access Journals (Sweden)

    Chmielewski Piotr

    2016-12-01

    Full Text Available Early epidemiological studies demonstrated that short stature is associated with cardiovascular disease (CVD, diabetes, lower energy intake or food deprivation during growth, poor health, and increased all-cause mortality. Nevertheless, the links between adult height and longevity become tenuous if certain confounders (e.g. BMI, SES, educational attainment, etc. are allowed for. Furthermore, numerous studies have found that like excess weight, tallness is costly in terms of longevity in late ontogeny, and shorter people tend to outlive their taller peers, especially if they are slim and maintain a healthy diet and lifestyle. Therefore, there is currently a lack of agreement in the literature as to whether and how body height and lifespan are linked. The objective of this study was to explore the relationship between adult stature and longevity on the basis of a large sample from a population-based cohort study. Data on declared height and exact dates of birth and death were available from 480,493 men and 364,666 women who died in the years 2004-2008 in Poland. To control for secular changes, the sample was divided into fifteen birth cohorts and each group was subsequently split into five height categories using pentiles, separately for both sexes. The analysis has revealed an inverse relationship between height and lifespan in men and women. However, after controlling for secular changes in height, the relationship turned out to be very weak and linear in men, and inverted U-shaped in women. In general, taller individuals had lower age at death compared to shorter ones, and this relationship was more pronounced and consistent in men. To sum up, these findings do not comport with the traditional belief that taller individuals live longer. The role of several possible biological mechanisms pertinent to enhanced longevity in smaller individuals was emphasized, and these biological factors were discussed.

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

    Directory of Open Access Journals (Sweden)

    Smyczyńska Joanna

    2011-01-01

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

  7. Comparison of different measurement methods of the bone age in Uygur short stature children%不同骨龄测定方法在新疆维吾尔族矮小儿童骨龄中的比较

    Institute of Scientific and Technical Information of China (English)

    熊鑫鑫; 李白艳; 郭辉; 李永勇; 冯兆海; 姚晓龙

    2015-01-01

    目的:通过对比3种骨龄测定方法( G-P图谱法、TW2-RUS系列及TW2-C系列计分法)在新疆维吾尔族矮小儿童中的应用,了解其各自特点及价值,便于临床选择应用。方法在新医大第一附属医院和乌鲁木齐市第一人民医院选取父母为维吾尔族的矮小儿童125例X线腕部骨龄片,其中男62例,女63例。分为4组即女未发育组,女发育组,男未发育组,男发育组。结果(1)在维吾尔族女发育组中,TW2-RUS系列及TW2-C系列计分法比较差异有统计学意义,F=2.208,P=0.041。(2)骨龄落后生活年龄二岁以上者,G-P图谱法,TW2-RUS系列及TW2-C系列计分法分别落后28例,19例和33例,三种骨龄评价方法均落后例数为15例。结论(1)对于维吾尔族接近青春期的矮小女童,测骨龄时,不建议使用TW2-C系列计分法。(2)临床工作中,使用G-P图谱法和TW2-C系列计分法评定骨龄落后的,建议行R骨龄评分法评定以减少维吾尔族矮小儿童骨龄落后假阳性率。%Objective To select the clinical application by comparing the bone age determination methods ( Greulich-Pyle method, TW2-RUS and TW2-C skeletal age score method) in Xinjiang Uygur short stature children.Methods X-ray films of 125 Uygur children of short stature in the First Affiliated Hospital of Medical University and the First People’ s Hospital were recruited (62 males and 63 females).They were divided into 4 groups:female and male immature group, and the corresponding development group.Results (1) In the Uygur female development group, statistically significant difference was identified between TW2-RUS and TW2-C skeletal age score method (F=2.208, P=0.041).(2) The backward children whose backward chronological age were 2 years and more, were 28, 19, and 33 cases according to Greulich-Pyle method, TW2-RUS, and TW2-C skeletal age score method, respectively.The backward cases were 15 according to all

  8. 月经初潮时特发性矮小女童的生长激素治疗%Analysis of Therapeutic Effect of Human Growth Hormone in Menarche Girls with Idiopathic Short Stature

    Institute of Scientific and Technical Information of China (English)

    潘嘉严; 张先来

    2012-01-01

    目的 应用重组人生长激素(recombinant human growth hormone,rhGH)促进月经初潮时特发性矮小症(idiopathic short stature,ISS)女童的生长发育,并观察其疗效.方法 对36例月经初潮后1个月内就诊的特发性矮小症女孩,根据家长治疗意愿,分为治疗组(22例)和对照组(14例),治疗组每晚临睡前给予rhGH 0.15 ~0.20 IU/(kg·d)皮下注射,疗程12个月,对照组未给予任何治疗,观察时间12个月.最后比较两组儿童的骨龄(bone age,BA)、生长速率(growth velocity,GV)、预测成年身高(prediction of adult height,PAH)、身高标准差分值(HtSDSBA).结果 治疗组患儿治疗后GV、HtSDSBA、PAH与治疗前比较,差异有统计学意义(P<0.05),其他差异无统计学意义(P>0.05);治疗后治疗组GV、PAH、HtSDSBA与对照组比较,差异有统计学意义(P<0.05);两组其他指标比较,差异无统计学意义(P>0.05).结论 rhGH能改善青春后期ISS女童PAH、GV及HtSDSBA,而BA增长无明显加速现象,无严重不良反应,疗效肯定.%Objective To observe the therapeutic effect of recombinant human growth hormone on the menarche girls with idiopathic short stature. Methods Thirty six girls with idiopathic short stature who were treated within one month after the first emmenia were divided into control group (n = 14) and trial group (n = 22) complying with their parents agreement. The participators in trial group were injected with rhGH[ (0. 15 -0. 20) IU/(kg·d)]before going sleep for 12 month,control group were observed for 12 month without treatment. And the bone age,growth velocity,prediction of adult height and HtSDSBA were compared between two groups. Results There were significant different in growth velocity, HtSDSBA, prediction of adult height between before and after treatment in trial group(P<0. 05). And after treatment with rhGH there were significant differences of the growth velocity, prediction of adult height, HtSDSBA between trial group arid

  9. Multiplexing Short Primers for Viral Family PCR

    Energy Technology Data Exchange (ETDEWEB)

    Gardner, S N; Hiddessen, A L; Hara, C A; Williams, P L; Wagner, M; Colston, B W

    2008-06-26

    We describe a Multiplex Primer Prediction (MPP) algorithm to build multiplex compatible primer sets for large, diverse, and unalignable sets of target sequences. The MPP algorithm is scalable to larger target sets than other available software, and it does not require a multiple sequence alignment. We applied it to questions in viral detection, and demonstrated that there are no universally conserved priming sequences among viruses and that it could require an unfeasibly large number of primers ({approx}3700 18-mers or {approx}2000 10-mers) to generate amplicons from all sequenced viruses. We then designed primer sets separately for each viral family, and for several diverse species such as foot-and-mouth disease virus, hemagglutinin and neuraminidase segments of influenza A virus, Norwalk virus, and HIV-1.

  10. Clinical value of the growth hormone stimulation test in the diagnosis and treatment of short stature%生长激素激发试验在矮小症诊治中的临床价值

    Institute of Scientific and Technical Information of China (English)

    蒋健飞

    2012-01-01

    Objective To evaluate the value of the growth hormone (GH) stimulation test in the diagnosis of GH deficiency. Methods Twenty-six hospitalized children with short stature from August 2008 to September 2010 were tested with combined arginine and clonidien stimulation. GH was measured by radioimmunoassay. The test results were recorded and analyzed. Results GH was stimulated to the maximum 30 minutes and 90 minutes after the tests. Four children showed complete GH deficiency, accounting for 15.38%. Another four children showed partial GH deficiency, accounting for 15.38%. The rest 18 children did not lack GH at all, accounting for 69.23%. Conclusion For some children, short stature is caused by GH deficiency or partial GH deficiency. Argine and clonidine stimulation test can be used as a confirmation for GH deficiency.%目的 评价生长激素(Growth hormone,GH)激发试验对儿童GH缺乏症诊断的临床价值.方法 对2008年8月至2010年9月年间收住院的26例矮小患儿应用精氨酸与可乐定两种药物做生长激素激发试验,GH测定采用放射免疫法,记录结果并分析.结果 药物激发后GH峰值在30 min和90 min出现最多,GH完全缺乏者4例,占15.38%;部分缺乏者4例,占15.38%;完全不缺乏者18例,占69.23%.结论 矮小患儿有部分是GH完全缺乏或部分缺乏所致.精氨酸与可乐定联合激发试验可作为临床诊断GH缺乏症的确认方法之一.

  11. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

    Directory of Open Access Journals (Sweden)

    Jamsheer Aleksander

    2013-01-01

    Full Text Available Abstract Background A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. Case presentation We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO, bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. Conclusions We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both

  12. Genetic and Environmental Factors in Pre- and Postnatal Growth Disorders: Studies in children born small for gestational age (SGA), with and without postnatal short stature

    NARCIS (Netherlands)

    W.A. Ester (Wietske)

    2009-01-01

    textabstractTh is thesis describes genetic and environmental factors which are important in pre- and postnatal growth disorders and specifi cally focuses on children born small for gestational age (SGA) with or without postnatal catch-up growth. It also presents a subclassifi cation of short SGA sub

  13. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

    Science.gov (United States)

    Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L

    1993-02-01

    We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

  14. 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.

    Energy Technology Data Exchange (ETDEWEB)

    McElreavey, K.; Barbaux, S.; Vilain, E. [Immunogenetique Humaine 25 rue du Dr. Roux, Paris (France)] [and others

    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.

  15. 胰岛素样生长因子-1受体基因变异与矮身材的研究进展%Study progress of insulin-like growth factor receptor type 1 gene mutation and short stature

    Institute of Scientific and Technical Information of China (English)

    杨玉; 黄慧

    2014-01-01

    胰岛素样生长因子-1受体(IGF-1 R)是下丘脑-垂体-生长激素轴IGF信号通路的受体级联效应分子.近年来,国外IGF-1R基因突变矮身材报道逐年增多,现将IGF-1R基因缺陷与矮身材的研究进展总结如下,以期引起临床医师的重视.%Insulin-like growth factor receptor type 1 (IGF-1 R) is the receptor cascade effect molecules of IGF signaling pathways in the hypothalamus-pituitary-growth hormone axis.In recent years,IGF-1R gene mutation of short stature case reports increased year by year,now the progress of IGF-1R gene defects in short stature for clinicians was summarized.

  16. OBSERVATION ON SHORT STATURE OF CHIDREN IN BASIC LEVEL HOSPITALS%基层医院儿童矮小症治疗初探

    Institute of Scientific and Technical Information of China (English)

    刘夜明

    2011-01-01

    [Objective] To study microsomia children treated in basic level hospitals. [Methods] For 12 months, mi-crosomia children with differential treatment, including psychological counseling, diet guidance, sleep conditioning, digestive conditioning, intestinal nutrition promotion, strengthening exercise, growth hormone (Gh) and thyroxine treatment, were observed and studied in Anyue County. [Results] In the 244 cases, 21 cases were treated by Gh for 12 months, of which 15 cases grew by more than 12cm, accounting for 71.4%, and 6 cases had grown higher than 6cm, accounting for 28.6%, and no child grew less than 6cm. In the 223 cases of children undergoing other treatments for after 12 months, 102 cases grew greater . Than 12cm, accounting for 45.7%, and 98 cases grew greater than 6cm, accounting for 43.9%, and 23 cases grew less than 6cm, accounting for 10.4%. The efficient rate of the two groups was respectively 71.4% and 45.7% ; The effective rate was 28.6% and 43.9%; Non-effective rate respectively was 0% and 10.4%. [Conclusion] Gh is the key treatment of microsomia children, but the use of Gh therapy and differential treatment, to a certain extent, can effectively improve the height of children. It can reduce the burden on the family and should be promoted in basic level hospital.%[目的]探讨基层医院儿童矮小症的治疗.[方法]对安岳县诊断明确的矮小儿童进行差别综合治疗,包括:心理辅导、饮食指导、睡眠调理、肠道调理、营养促进、加强锻炼以及生长激素(Gh)、左旋甲状腺素治疗等,观察期12个月. [结果]244例矮小儿童有21例接受GH治疗,12个月生长大于12 cm共15例,占71.4%,12个月生长大于6 cm共6例,占28.6%,12月生长小于6 cm共0例,223例接受除外GH的差别综合治疗,12个月生长大于12 cm共102例,占45.7%,12个月生长大于6 cm共98例,占43.9%,12月生长小于6 cm共23例,占10.4%.两组的显效率分别为71.4%、45.7%,有效率分别为28.6

  17. SHOX Gene Mutations and Anthropometric Characteristics in Patients with Idiopathic Short Stature%特发性矮小患者SHOX基因突变及人体测量学特征的分析

    Institute of Scientific and Technical Information of China (English)

    周斌; 杨玉; 周红平; 杨利; 谢理玲

    2013-01-01

    目的 分析特发性矮小(idiopathic short stature,ISS)患者的人体测量学特征及SHOX基因的突变.方法 对70例特发性矮小患者进行身高、指距、坐高的测量及骨龄评分:对骨龄延迟时间与身高标准差积分(height SDS,Ht SDS)、四肢长/坐高比值与靶身高进行Pearson相关分析;选取下肢长/坐高比值较低患者40例,提取DNA,对其SHOX基因的外显子进行测序分析.结果 ISS患儿骨龄延迟与HtSDS呈正相关(r=0.427,P=0.000),下肢长度/坐高比值与靶身高呈正相关(r=0.251,P=0.039),提示ISS患儿可能存在下肢骨生长潜能的减低.下肢长/身高比值较低的40例患者中未发现SHOX基因突变.结论 特发性矮小患者可能存在下肢骨生长潜能的减低.SHOX基因突变可能不是江西地区ISS患儿下肢骨生长潜能减低的遗传学因素之一.%Objective To analyze the SHOX gene mutations and anthropometric characteristics in patients with idiopathic short stature (ISS). Methods The height, arm span, sitting height and bone age were measured in 70 patients with ISS. Pearson correlation analysis was performed between bone age delay time and HtSDS, as well as between limb length /sitting height ratio and target height. DNA was extracted from 40 patients with lower leg/sitting height ratio for sequence a-nalysis of SHOX exons. Results There was a positive correlation between bone age delay time and HtSDS(r=0.427, P=0.000), as well as between limb length/sitting height ratio and target height (r=0.251, P= 0.039) suggesting that lower limb growth potential decreased in patients with ISS. No SHOX mutations were found in the 40 patients with lower leg/sitting height ratio. Conclusion Patients with ISS may have reduction in lower limb growth potential. SHOX gene mutations may not be a genetic factor in ISS patients with reduction in lower limb growth potential in Jiangxi province.

  18. 重组人生长激素治疗青春后期特发性矮小临床观察%Effect of recombinant human growth hormone therapy on late puberty children with idiopathic short stature

    Institute of Scientific and Technical Information of China (English)

    金薇; 陈继男; 文革生; 高毅

    2012-01-01

    目的 探讨基因重组人生长激素( rhGH)对青春后期特发性矮小的促生长效应.方法 11例青春后期矮小患儿,按性别分为2组,A组,男5例,骨龄14 ~15岁,B组,女6例,骨龄12.5 ~13.5岁,每晚睡前皮下注射rhGH,剂量0.15 IU/(kg·d),疗程6个月.结果 2组患儿的身高分别由治疗前(148.6±2.6)cm、(139.6±2.9) cm增加到(153.6±2.1) cm、(143.8±2.5) cm,生长速率分别由治疗前(3.8±0.5)cm/年、(3.3±0.6)cm/年,提高到(9.8±1.7)cm/年、(8.4±1.8)cm/年,预测成年身高由治疗前(158.9±3.0) cm、(147.6±1.2) cm提高到(160.3±3.0)cm、(149.2±1.6) cm,与治疗前相比均有显著性差异(P<0.05),骨龄增加较治疗前相比无显著性差异(P>0.05).结论 rhGH治疗对青春后期特发性矮小儿童有促生长效应,疗效肯定,无明显不良反应.%Objective To assess the efficacy of recombinant human growth hormone (rhGH) therapy in late puberty children with idiopathic short stature. Methods 11 children in late puberty with idiopathic short stature(ISS) were divided into 2 groups according to sex. A group consisted of 5 boys , B group was composed of 6 girls. Bone age(BA) of A group was ( 14 - 15)years, and BA of B group was ( 12.5 ~ 13.5) years. The enrolled children were treated with subcutaneous injection of rhGH (0. 15 IU/kg o d) daily before sleep for six months, and the growth velocities ( GV) and the predicted adult height (PAH) before and after treatment were compared. Results The mean height of A group and B group increased from ( 148. 6 ± 2. 6) cm and ( 139. 6 ± 2. 9) cm to (153.6 ±2. 1) cm and (143.8 ±2.5) cm respectively. The growth velocity of A group and B group increased from (3.8 ±0.5) cm and(3. 3 ±0.6) cm per year to(9.8±1.7) cm and (8. 4 ± 1. 8) cm per year. PAH of A group and B group increased from ( 158. 9 ± 3.0) cm and( 147. 6 ± 1. 2) cm to( 160. 3 ± 3. 0) cm and (149. 2 ± 1. 6) cm. There was a significant increase in rhGH therapy( all P <0.05) ,but no

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

    Science.gov (United States)

    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, pchildren 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 Mexican families of all ethnic groups, particularly

  20. 中剂量重组人生长激素治疗特发性矮小症的疗效观察%Efficacy of middle dose of recombinant human growth hormone for children with idiopathic short stature

    Institute of Scientific and Technical Information of China (English)

    樊洪静; 熊丰; 朱岷; 王旭荣; 雷培芸; 邓蕾丽

    2012-01-01

    Objective:To assess the efficacy of middle dose of recombinant human growth hormone(rhGH)for children with idiopath- ic short stature(ISS). Methods:Night-six ISS children(32 males and 64 females)were treated with middle dose of rhGH[0.35-0.42 mg/(kg·week)] before night sleeping for 1,2,3 years. Changes in height,growth velocity,mean height standard deviation score(HtS-DS),bone age, predicted adult height and side effect after treatment were measured every 6 months. Results-. (l)During the three years' treatment,the mean growth velocity increased from 4.46(4.07-4.68)cm/year to 11.00(9.25-12.5)cm/year,8.10(7.00-9.50)cm/year and 7.40(5.63-8.00)cm/year;mean HtSDS increased form -2.48[(-2.83)-(-2.25)] to -1.5[(-1.93)-(-1.17)],-1.00 [(-1.69)-(-0.58)] and -0.52[(-1.86)-(-0.13)];predicted adult height increased form 149.20(145.10-155.30)cm to 155.90(150.30-162.70)cm, 159.00(154.00-162.70)cm and 160.05(153.18-166.80)cm(P0.05). During the treatment,a few had temporary blood sugar rises,no obvious side effects was observed except mild reaction in the injection site. Conclusions: The therapy with middle dose of rhGH for ISS children is effective in improving growth and increasing predicted adult height without affecting growth potential and side effect.%目的:探讨中剂量重组人生长激素(Recombinant human growth hormone,rhGH)对特发性矮小症(Idiopathic short stature,ISS)的疗效及安全性.方法:96例ISS患儿,均接受rhGH治疗,治疗剂量为0.35~0.42 mg/(kg·周),每晚睡前皮下注射,治疗1~3年,评价治疗前后患儿身高、生长速度、身高标准差计数(Height standard deviation score,HtSDS)、骨龄(Bone age,BA)、预测成年身高(Predicted adult height,PAH)变化及副作用等.结果:(1)在中剂量rhGH治疗1、2、3年期间,96例患儿生长速率由治疗前4.46(4.07~4.68) cm/年分别提高到11.00(9.25~12.5) cm/年、8.10(7.00~9.50) cm/年和7.40(5.63~8.00) cm/年;身高SDS由治疗前-2.48(-2.83~-2.25)cm

  1. Stature and idiopathic scoliosis. A prospective study.

    Science.gov (United States)

    Archer, I A; Dickson, R A

    1985-03-01

    A study of 130 scoliotic children with curves measuring 10 degrees or more has been performed in order to elucidate the importance of stature, growth and development. Girls with adolescent idiopathic curves measuring 15 degrees or more were taller than girls with smaller idiopathic curves and taller than those whose scoliosis was secondary to leg-length inequality (pelvic tilt scoliosis). No differences were observed as regards growth velocity or development. The increased standing height may be genetic but the uncoiling effect of the normal kyphosis to give a flat lateral profile is a more likely cause. The familial trend in idiopathic scoliosis may therefore be explained by the genetically determined shape of the spine in the median (sagittal) plane.

  2. Analyzing the etiology of 1 496 children with short stature and establishing the predict model of growth hormonedeficiency using IGF-1 levels%1496例矮小症病因分析及基于IGF-1水平生长激素缺乏症诊断预测模型的建立

    Institute of Scientific and Technical Information of China (English)

    李晓静; 罗飞宏; 裴舟; 奚立; 叶蓉; 赵诸慧; 陆炜; 章淼滢; 郑章乾

    2012-01-01

    Objective To analysis the etiology of 1 496 short stature children and to establish the predict model of growth hormone deficiency using IGF-1 levels. Methods Anthropological and physical examination data were collected in 1 496 short children. Growth hormone levels were determined via Insulin tolerance test and Arginine test. A prediction model of growth hormone deficiency (GHD) was established by Logistic stepwise multivariate regression based on IGF-1 level. Results 659 cases (44.05%) were diagnosed as GHD, 504 cases (33.69%) were idiopathic short stature (ISS), 165 cases (11.03%) were familial short stature, 35 cases (2.33%) were constitutional delay of growth and puberty. The rests were attributed to other reasons, such as hypothyroidism, intrauterine growth retardation, Turner syndrome, multiple pituitary hormone deficiency and so on. There existed significantly statistical difference in body weight, BMI, height SDS, ALT/AST/AKP, TG/Tch, IGF-1, IGFBP-3 level between GHD and non-GHD groups. If the probability for growth hormone deficiency P, the Logistic stepwise multivariate regression model fitting model is as follows: LN[P/(1-p)] = -2.0193 + 0.0683 × age + 0.1439 × BMI + 0.021 × ALT-0.0021 × IGF-1-0.152 6 × IGFBP-3. Conclusions Endocrine disease is the most common cause of dwarfism, which is most commonly seen in GHD; GH levels were affected by multiple factors including anthropological indexes and biochemical status, it is highly suggests that serious cautions should be taken when diagnosing GHD. GHD can be briefly and accurately predicted based on IGF-1 value.%目的 探讨矮小症患儿的病因及胰岛素样生长因子 (IGF)-1与生长激素 (growth hormone,GH) 水平之间的关系,建立基于IGF-1水平的简易GH缺乏 (GHD) 诊断预测模型.方法矮小症住院患儿1 496例,采用胰岛素低血糖法和精氨酸法测定GH分泌状态,根据体格检查及实验室检查分析病因;Logistic逐步多元回归模型建立基于IGF-1

  3. Study of Recombinant Human Growth Hormone′s Curative Effects on Puberty Idiopathic Short Stature%重组人生长激素对不同青春期特发性矮小症疗效研究

    Institute of Scientific and Technical Information of China (English)

    何毅; 钟燕; 赵莎; 丁大为

    2011-01-01

    目的 探讨重组人生长激素对不同青春期时期特发性矮小症(ISS)患儿的疗效.方法 应用重组人生长激素治疗青春期不同时期ISS患儿6个月,比较三组患儿治疗前后生长发育、血糖、甲状腺功能和血胰岛素样生长因子1及胰岛素样生长因子结合蛋白3的差异.结果 三组ISS患儿治疗后的身高、体质量、生长速度和骨龄较治疗前增加,其中在身高和生长速度方面的差异具有统计学意义(P<0.05).青春期前期组ISS患儿治疗后的生长速度改善显著高于青春期中期组和后期组患儿(P<0.05).三组ISS患儿治疗前后的血糖和甲状腺功能均处于正常状态,且三组间血糖和甲状腺功能无明显差异(P>0.05).三组患儿治疗后的血胰岛素样生长因子1和胰岛素样生长因子结合蛋白3浓度较治疗前均显著增加(P<0.05),其中青春前期组患儿改善程度显著高于青春期中期组和后期组(P<0.05).结论 重组人生长激素对青春期前期ISS患儿疗效最好,ISS患儿应早期治疗.%Objective To study recombinant human growth hormone's curative effects on idiopathic short stature(ISS) in different puberty stages. Methods Children with ISS in different puberty stages were treated for 6 months with recombinant human growth hormone. Growth, blood glucose, thyroid function, insu-lin-like growth factor 1 and insulin-like growth factor binding protein 3 were compared. Results The height, weight,growth velocity and bone age were significantly promoted especially 3 months after treatment. The pro-motions in pre-puberty group were significantly higher than that in mid-puberty and post-puberty groups( P 0.05 ). Blood insulin-like growth factor 1 and insulin-like growth factor binding protein 3 signifi-cantly increased especially in pre-puberty group( P <0.05 ). Conclusion Recombinant human growth hor-mone has the best curative effects on pre-puberty children with ISS. Children with ISS should be

  4. Recombinant Human Growth Hormone for Idiopathic Short Stature: A Systematic Review%重组人生长激素治疗特发性身材矮小症疗效的系统评价

    Institute of Scientific and Technical Information of China (English)

    高岚; 徐婧; 杨凡; 康德英

    2012-01-01

    目的 系统评价重组人生长激素(rhGH)治疗特发性身材矮小症的长期效果.方法 计算机检索PubMed、ScienceDirect、EBSCOHost、EMbase、The Cochrane Library、CBM、CNKI和VIP数据库,检索时限为1985 ~ 2010年,搜集rhGH治疗特发性身材矮小症的随机对照试验(RCT).按照Cochrane系统评价方法,由2名评价员独立进行文献筛选、资料提取和纳入研究的方法学质量评估后,采用RevMan 5.0软件进行Meta分析.结果 最终纳入11个RCT,共607例特发性身材矮小症儿童Meta分析结果显示:治疗1年后,rhGH组身高标准差积分(SDS)明显高于空白/安慰剂对照组[MD=0.29 SDS,95%CI(0.03,0.54),P=0.03],rhGH组身高增长速度(GV)明显高于空白/安慰剂对照组[MD=2.68 cm/年,95%CI(1.70,3.65),P<0.000 01],rhGH组成年SDS明显高于空白/安慰剂对照组[MD=0.46 SDS,95%CI (0.29,0.63),P<0.00001].结论 rhGH可有效促进特发性身材矮小儿童的生长.但由于纳入研究质量不高,样本量较少,其效果尚需更多高质量RCT进一步验证.%Objective To evaluate long-term effectiveness of recombinant human growth hormone (rhGH) for children with idiopathic short stature (ISS). Methods The randomized controlled trials (RCTs) about rhGH in treating ISS published from 1985 to 2010 were searched in PubMed, ScienceDirect, EBSCOHost, EMbase, The Cochrane Library, CBM, CNKI and VIP. According to the Cochrane Handbook, two reviewers independently screened literature, extracted data, assessed methodological quality, and conducted meta-analysis using RevMan 5.0 software. Results A total of 11 RCTs involving 607 ISS children were included. The results of meta-analysis showed that, compared with the blank/placebo control group after 1-year treatment, the rhGH group resulted in a significant increase in height standard deviation score (SDS) (MD=0.29, 95%CI 0.03 to 0.54, P=0.03), growth velocity (MD=2.68 cm/year, 95%CI 1.70 to 3.65, P<0.000 01), and adult SDS (MD=0

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

    Directory of Open Access Journals (Sweden)

    Hogrel Jean-Yves

    2012-09-01

    Full Text Available Abstract 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.

  6. Search in sports and learning situation of children in Nantong with short stature causing by different etiologies%南通地区矮身材儿童不同病因的运动、学习状况调查研究

    Institute of Scientific and Technical Information of China (English)

    李斌; 蔡晋; 沈毅

    2015-01-01

    Objective To investigate the common etiologies,sports and learning situation of children in Nantong with short stature,and discuss the relationship between the two. Methods Did a retrospective analysis of 108 cases of children with short stature in Nantong University′s affiliated hospital since January 2012. Through detailed past illnesses, physical examination, laboratory tests, diagnose short stature and clarify the cause. Did a questionnaire to these children with short stature about sports and learning situation. Use statistical methods like multivariate Logis-tic regression analysis and link analysis to analyze sports and learning situation of children in Nantong with short sta-ture and find the relation with the etiology. According to the principle of group matching,the control group elected representative of 108 children. Results In 108 cases, 61 cases were because of growth hormone deficiency (GHD), accounting for 56. 5% ; 47 cases were because of non-growth hormone deficiency (NGHD), accounting for 43. 5% . Logistic regression analysis showed that participation in physical exercise was a protective factor. Rest-less anxiety and inattention were as risk factors,and these make a lot(P 0. 05). Conclusion Various types of sports (basketball, badminton, running, cycling) are protective factors for children of short stature. Restless anxiety and inattention are risk factors for children with short stature. Whether there is growth hormone deficiency or not, children with short stature should increase the right exercise as much as possible and avoid or reduce exposure to these risk factors.%目的:探究南通地区矮身材儿童常见病因及运动、学习状况,并讨论两者之间的关系。方法回顾性分析108例矮身材儿童的相关资料,通过详尽病史采集、体格检查、实验室检查,诊断矮小以明确病因。采用病例对照研究,对108例矮身材儿童进行运动、学习状况的问卷调查。应用多因素Logistic

  7. ESTIMATION OF STATURE BASED ON FOOT LENGTH

    Directory of Open Access Journals (Sweden)

    Vidyullatha Shetty

    2015-01-01

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

  8. Genetics Home Reference: familial osteochondritis dissecans

    Science.gov (United States)

    ... dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is ... Short Stature Health Topic: Cartilage Disorders Health Topic: Joint Disorders Health Topic: Osteoarthritis Genetic and Rare Diseases Information ...

  9. Safety of Recombinant Human Growth Hormone in Treating Children with Growth Hormone Deficiency and Idiopathic Short Stature%重组人生长激素治疗儿童生长激素缺乏症和特发性矮小症的安全性问题

    Institute of Scientific and Technical Information of China (English)

    舒畅; 潘慧

    2011-01-01

    重组人生长激素的安全性总体较好,但也有少量不良反应出现,如水钠潴留、良性颅内高压、胰岛素敏感性下降、继发肿瘤发生的危险性升高、脊柱侧凸、股骨头滑脱等,但总体发生率较低.%Recombinant human growth hormone is generally safe in treating children with growth hormone deficiency and idiopathic short stature. However, side effects such as sodium and water retention, benign intracranial hypertension, insulin insensitivity, increasing risk of secondary neoplasm, scoliosis, and slipped capital femoral epiphysis may occur occasionally, although the overall incidence remains low.

  10. A short and valid measure of work-family enrichment.

    Science.gov (United States)

    Kacmar, K Michele; Crawford, Wayne S; Carlson, Dawn S; Ferguson, Merideth; Whitten, Dwayne

    2014-01-01

    The stream of research concerning work-family enrichment has generated a significant body of research because it plays an important role in occupational health (Masuda, McNall, Allen, & Nicklin, 2012). work-family enrichment has been defined as "the extent to which experiences in one role improve the quality of life in the other role" (Greenhaus & Powell, 2006, p. 73). Within work-family enrichment, there are two directions: work to family and family to work. Carlson, Kacmar, Wayne, and Grzywacz (2006) developed an 18-item scale to measure this construct. Although the scale has been shown to be both reliable and valid, it also requires work-family researchers to include a proportionally large number of items to capture this construct in a study. The goal of the current study was to isolate a subset of the items in this measure that produces results similar to the full version thereby providing a more streamlined scale for researchers. Using a five-sample study that follows the scale reduction procedures offered by Stanton, Sinar, Balzer, and Smith (2002), we provide evidence that scales containing only three items for each direction of enrichment produce results equivalent to the full scale with respect to reliability and discriminant, convergent, and predictive validity. Reducing the original scale by two thirds, without losing explanatory power, allows scholars to measure enrichment in the work and family domains more efficiently, which should help minimize survey time, lower refusal rates, and generate less missing data.

  11. Stature in Holocene foragers of North India.

    Science.gov (United States)

    Lukacs, John R; Pal, J N; Nelson, Greg C

    2014-03-01

    The Ganga Plain of North India provides an archaeological and skeletal record of semi-nomadic Holocene foragers in association with an aceramic Mesolithic culture. Prior estimates of stature for Mesolithic Lake Cultures (MLC) used inappropriate equations from an American White reference group and need revision. Attention is given to intralimb body proportions and geo-climatic provenance of MLC series in considering the most suitable reference population. Regression equations from ancient Egyptians are used in reconstructing stature for MLC skeletal series from Damdama (DDM), Mahadaha (MDH), and Sarai Nahar Rai (SNR). Mean stature is estimated at between 174 (MDH) and 178 cm (DDM and SNR) for males, and between 163 cm (MDH) and 179 cm (SNR) for females. Stature estimates based on ancient Egyptian equations are significantly shorter (from 3.5 to 7.1 cm shorter in males; from 3.2 to 7.5 cm shorter in females) than estimates using the American White reference group. Revised stature estimates from tibia length and from femur + tibia more accurately estimate MLC stature for two reasons: a) these elements are highly correlated with stature and have lower standard estimates of error, and b) uncertainty regarding methods of measuring tibia length is avoided. When compared with Holocene samples of native Americans and Mesolithic Europeans, MLC series from North India are tall. This aspect of their biological variation confirms earlier assessments and results from the synergistic influence of balanced nutrition from broad-spectrum foraging, body-proportions adapted to a seasonally hot and arid climate, and the functional demands of a mobile, semi-nomadic life-style.

  12. Short-term heat load forecasting for single family houses

    DEFF Research Database (Denmark)

    Bacher, Peder; Madsen, Henrik; Nielsen, Henrik Aalborg;

    2013-01-01

    This paper presents a method for forecasting the load for space heating in a single-family house. The forecasting model is built using data from sixteen houses located in Sønderborg, Denmark, combined with local climate measurements and weather forecasts. Every hour the hourly heat load for each ...

  13. A Comparison of Short- And Long-Term Family Therapy for Adolescent Anorexia Nervosa.

    Science.gov (United States)

    Lock, James; Agras, W. Stewart; Bryson, Susan; Kraemer, Helena C.

    2005-01-01

    Objective: Research suggests that family treatment for adolescents with anorexia nervosa may be effective. This study was designed to determine the optimal length of such family therapy. Method: Eighty-six adolescents (12-18 years of age) diagnosed with anorexia nervosa were allocated at random to either a short-term (10 sessions over 6 months) or…

  14. Effects of Recombinant Human Growth Hormone on Stature in Short Children Born Small for Gestational Age%重组人生长激素对身材矮小的小于胎龄儿身高的促增长作用

    Institute of Scientific and Technical Information of China (English)

    陈丽娜; 向承发

    2012-01-01

    Objective To explore the therapeutic effects of recombinant human growth hormone (rhGH) on children with short stature born small for gestational age (SGA). Methods This was a prospective observational study with institutional ethics approval and written maternal consent. A total of 20 children with short stature born in SGA were selected in Department of Pediatrics, Sichuan Provincial People's Hospital and West China Second Hospital, Sichuan University from January 2008 to October 2011. Their average age was (8. 95 ± 4. 06) years old. Each child was treated with rhGH by subcutaneous injection every night before sleep, and the dosage was (0. 15-0. 20) U/(kg ? D) for 2. 3-18. 0 months. The height (Ht), height standard deviation score ( H tSDS) and height velocity ( H V) were statistically analyzed before and after rhGH treatment. Results Before and after rhGH treatment,there had significant differences in the Ht[(110. 34 ± 22. 1) cm to. (115. 88 ± 22. 29) cm], HtSDS ( - 4. 31 ± 1. 4 7 vs. - 3. 71 ± 1. 36) and HV [(4. 06 ± 0. 6) cm/year to. (9. 86 + 4. 01)cm/year] (P<0. 05). Conclusions rhGH can play a significant role in promoting growth of children with short stature born in SGA.%目的 探讨重组人生长激素(rhGH)治疗对身材矮小的小于胎龄(SGA)儿身高增长的疗效.方法 选择2008年1月至2011年10月因身材矮小于四川省人民医院儿科和四川大学华西第二医院儿科门诊就诊,并接受rhGH治疗的20例身材矮小的SGA儿为研究对象.其平均年龄为(8.95±4.06)岁,rhGH治疗剂量为(0.15~0.20)U/(kg·d),睡前皮下注射,疗程为2.3~18.0个月.对患儿治疗前、后身高(Ht),身高标准差积分(HtSDS)及生长速率(HV)进行统计学分析(本研究遵循的程序符合四川省医学科学院与四川大学华西第二医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并与受试对象监护人签署临床研究知情同意书).结果 20例身材矮小的SGA儿rhGH治

  15. Short-term heat load forecasting for single family houses

    DEFF Research Database (Denmark)

    Bacher, Peder; Madsen, Henrik; Nielsen, Henrik Aalborg

    2013-01-01

    This paper presents a method for forecasting the load for space heating in a single-family house. The forecasting model is built using data from sixteen houses located in Sønderborg, Denmark, combined with local climate measurements and weather forecasts. Every hour the hourly heat load for each...... characteristics for each house, such as the level of adaptivity and the thermal dynamical response of the building, which is modeled with simple transfer functions. Identification of a model, which is suitable for all the houses, is carried out. The results show that the one-step ahead errors are close to white...

  16. Valor del pesquisaje de la enfermedad celíaca en niños con baja talla. Métodos serológicos: una opción eficaz Value of celiac disease screening in children with short stature. Serological methods: an efficient option

    Directory of Open Access Journals (Sweden)

    Tania Espinosa Reyes

    2007-12-01

    Full Text Available El estudio sistemático de los niños con retraso del crecimiento constituye un pilar clave en el quehacer del endocrinólogo pediatra. Múltiples han sido las causas identificadas para la baja estatura a lo largo de los años, y a la inmensa lista de enfermedades de origen genético, endocrino, osteomioarticular, cardiovascular, respiratorio y gastrointestinal, por recordar un grupo de ellas, se suma la enfermedad celíaca (EC, y se ha demostrado que es de vital importancia su pesquisa activa en estos pacientes, aunque no existan manifestaciones de tipo gastrointestinales. Programas de screening en la población indican que existe un subregistro de EC, y estudios recientes han permitido confirmar que es mucho más frecuente de lo que se suponía. Aunque la biopsia de yeyuno continúa siendo la regla de oro para su diagnóstico, la búsqueda incesante de métodos menos cruentos ha llegado al desarrollo de métodos serológicos, especialmente la determinación de anticuerpos anti-gliadina y anti-transglutaminasa, este último con un método desarrollado por investigadores nuestros. Con el propósito de analizar algunos estudios realizados con este fin, presentamos la siguiente revisión, lo que ha originado un protocolo de investigación que se llevará a cabo en nuestros pacientes con baja estatura.The systematic study of children with growth retardation is essential in the work of the paediatric endocrinologist. There have been identified multiple causes of short stature along the years, and the celiac disease (CD is added to the immense list of disease of genetic, endocrine, osteomyoarticular, cardiovascular respiratory and gastrointestinal origin, just to remember some of them. It has been proved that the active search of CD in these patients is very important, even when there are no gastrointestinal manifestations. Screening programs carried out in the population show that there is a subregister of CD, and recent studies have allowed to

  17. 生长激素运动筛查和激发试验对儿童GH缺乏症的诊断价值%Value of Growth Hormone Excise Test and Provocation Test in the Diagnosis of Children with Short Stature

    Institute of Scientific and Technical Information of China (English)

    李正秋; 马步军; 刘云花; 祝兴元; 李梨平

    2011-01-01

    [目的]评价生长激素( GH) 筛查与药物联合确诊试验对儿童GH缺乏症的诊断价值.[方法]对运动试验筛查后GH低于正常值的120例矮小儿童,采用左旋多巴与胰岛素物药联合激发试验检测确诊GH缺乏,检测采用化学发光法.[结果]激发后GH在30 min和60 min出现最多,GH完全缺乏者占15%(18/120),部分缺乏者占29.2%(35/120),完全不缺乏者占55.8%(67/120).[结论]药物联合确诊试验快速、准确,矮小儿童大多数是GH缺乏或部分缺乏所致.左旋多巴与胰岛素物药联合激发试验可作为临床诊断GH缺乏症的有效方法.%[Objective] To evaluate the value of growth hormone(GH) screening and drug combination confirmed diagnosis test in the diagnosis of children with GH deficiency. [Methods] Levodopa and insulin combination provocation test was used to diagnose GH deficiency of 120 children with short stature whose the level of GH was lower than normal value after GH exercise test. Chemiluminescence method was used. [Results] The level of GH was the most at 30min and 60min after provocation. The children with complete GH deficiency occupied 15% (18/120). The children with partial GH deficiency occupied 29. 2% (35/120). The children without GH deficiency occupied 55. 8%(67/120). [Conclusion] Drug combination confirmed di agnosis test is rapid and accurate. Most children with short stature are caused by complete or partial GH defi ciency. Levodopa and insulin combination provocation test can be used as an effective method for the clinical di agnosis of GH deficiency.

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

    NARCIS (Netherlands)

    G. Koshy; A. Delpisheh; B.J. Brabin

    2011-01-01

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

  19. Stature System Protocols for Peer to Peer Networks: A Survey

    OpenAIRE

    Ankita Thadani; Vinit Gupta; IndraJeet Rajput

    2014-01-01

    There are various websites presently used by us so the situation arises where people transact with unknown agents and take decision for these agents for by considering the stature score. Central idea of this paper is to compare online stature reporting systems that are particularly suitable for the peer to peer network but uses different approaches for calculating the stature of an entity. This paper describes the working of these stature systems, their properties and various parameters advan...

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

    Science.gov (United States)

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

    2010-07-01

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

  1. The short-term course of familial and nonfamilial schizophrenic-spectrum disorder.

    Science.gov (United States)

    Sautter, F J; McDermott, B E

    1994-01-01

    This study was designed to determine if familial and nonfamilial forms of schizophrenia show a different short-term illness course. Sixteen familial and 22 nonfamilial schizophrenics were evaluated on three occasions at regular 6-month intervals over an 18-month period. The familial and nonfamilial groups were compared for differences in positive and negative symptoms of psychosis and interpersonal and occupational role functioning. The data show that familial schizophrenics experience significantly higher levels of positive symptoms of psychosis and significantly worse occupational role functioning. Significant time by family history interactions indicates that the negative symptoms and interpersonal role functioning of the familial schizophrenics changed over the course of follow-up while remaining stable over time in the nonfamilial group. These data provide preliminary support for the hypothesis that familial schizophrenics show a higher degree of impairment during follow-up than nonfamilial schizophrenics.

  2. Familial deletion 18p syndrome: case report

    Directory of Open Access Journals (Sweden)

    Lemyre Emmanuelle

    2006-07-01

    Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

  3. Anxiety and depression among school-aged children with short stature and their association with psychological resilience%学龄期矮小儿童焦虑抑郁状况及其与心理弹性的关系

    Institute of Scientific and Technical Information of China (English)

    舒桂华; 梁琪; 陶月红

    2012-01-01

    目的 探讨学龄期矮小儿童焦虑、抑郁状况及其与心理弹性的关系,为进一步进行心理干预提供依据.方法 选用儿童焦虑性情绪障碍筛查表、儿童抑郁障碍自评量表和(或)心理弹性量表(RS)个性问卷,对2008年8月-2011年8月扬州大学临床医学院儿科矮小门诊确诊为矮小症的82例9 ~ 14岁身材矮小儿童和78名正常对照儿童进行问卷调查.结果 矮小儿童有焦虑障碍的比例(43.90%)与对照组( 16.70%)差异有统计学意义(x2=13.96,P<0.01);有抑郁障碍的比例(18.30%)高于对照组(12.80%),差异无统计学意义(x2=0.91,P>0.05);两组儿童焦虑总分以及躯体化/惊恐、广泛性焦虑、社交恐怖、学校恐怖分量表评分差异有统计学意义(P值均<0.05);矮小儿童抑郁评分与正常对照组差异无统计学意义(P>0.05).矮小儿童心理弹性评分焦虑组与非焦虑组、抑郁组与非抑郁组差异均有统计学意义(P值均<0.05).矮小儿童焦虑各因子及总分,抑郁评分与心理弹性总分及各因子评分均呈显著负相关(r=-0.10~-0.33,P值均<0.05).结论 学龄期矮小儿童较正常儿童有更多的焦虑等情绪,心理弹性好的学生焦虑抑郁症状较轻.应注重儿童心理弹性的培养.%Objective To study the emotion of anxious and depression and the characteristic of personality for school-aged children with short stature and compare them with those of age-matched healthy control. Methods Eighty-two of the school-aged children with short stature { studied group) and seventy-eight age-matched healthy controls (control group) were asked to complete the questionnaires allowing assessment of symptoms associated with anxiety,depression and personality by using the screen for child anxiety related emotional disorders(SCARED),depression self-rating scale for children ( DSRSC) and Resilience Scale( RS) .respectively. Results There were significant differences for the positive

  4. STATURE SYSTEM PROTOCOLS FOR PEER TO PEER NETWORKS: A SURVEY

    Directory of Open Access Journals (Sweden)

    Ankita Thadani

    2015-10-01

    Full Text Available There are various websites presently used by us so the situation arises where people transact with unknown agents and take decision for these agents for by considering the stature score. Central idea of this paper is to compare online stature reporting systems that are particularly suitable for the peer to peer network but uses different approaches for calculating the stature of an entity. This paper describes the working of these stature systems, their properties and various parameters advantages and disadvantages. Finally, it concludes by comparison of all these stature system protocols.

  5. Stature System Protocols for Peer to Peer Networks: A Survey

    Directory of Open Access Journals (Sweden)

    Ankita Thadani

    2014-12-01

    Full Text Available There are various websites presently used by us so the situation arises where people transact with unknown agents and take decision for these agents for by considering the stature score. Central idea of this paper is to compare online stature reporting systems that are particularly suitable for the peer to peer network but uses different approaches for calculating the stature of an entity. This paper describes the working of these stature systems, their properties and various parameters advantages and disadvantages. Finally, it concludes by comparison of all these stature system protocols.

  6. A short form of the neonatal intensive care unit family needs inventory

    Directory of Open Access Journals (Sweden)

    Elisabete Alves

    2016-02-01

    Full Text Available ABSTRACT OBJECTIVE: The identification of parental needs in Neonatal Intensive Care Units is essential to design and implement family-centered care. This article aims to validate the Neonatal Intensive Care Units Family Needs Inventory for the Portuguese population, and to propose a Short Form. METHODS: A linguistic adaptation of the Neonatal Intensive Care Units Family Needs Inventory, a self-report scale with 56-items, was performed. The instrument was administered to 211 parents of infants hospitalized in all level III Neonatal Intensive Care Units in the North of Portugal, 15-22 days after admission (July of 2013-June of 2014. The number of items needed to achieve reliability close to 0.8 was calculated using by the Spearman-Brown formula. The global goodness of fit of the scale was evaluated using the comparative fit index. Construct validity was assessed through association of each dimension score with socio-demographic and obstetric characteristics. RESULTS: Exploratory factor analysis revealed two dimensions, one focused on parents' needs and another on the infant's needs. To compose the Short Form Inventory, items with ceiling effect were eliminated and 22 items were submitted to confirmatory analysis, which supported the existence of two dimensions (CFI = 0.925. The Short Form showed a high degree of reliability (alpha ≥ 0.76. Less educated and older parents more frequently attributed a significantly higher importance to parent-centered needs, while parents of multiples revealed a tendency to value infant-centered needs. CONCLUSIONS: The Short Form of the Neonatal Intensive Care Units Family Needs Inventory is a brief, simple, and valid instrument with a high degree of reliability. Further studies are needed to explore associations with practices of family-centered care.

  7. Developing evidence-based guidelines for referral for short stature

    NARCIS (Netherlands)

    Grote, F.K.; Dommelen, P. van; Oostdijk, W.; Muinck Keizer-Schrama, S.M.P.F. de; Verkerk, P.H.; Wit, J.M.; Buuren, S. van

    2008-01-01

    Objective: To establish evidence based guidelines for growth monitoring on a population basis. Study design: Several auxological referral criteria were formulated and applied to longitudinal growth data from four different patient groups, as well as three samples from the general population. Results

  8. [Low stature in males with normal phenotype and 45,X/46,XY mosaicism].

    Science.gov (United States)

    Lara Orejas, E; Golmayo Gaztelu, L; Núñez Estevez, M; San Román Cos-Gayón, M A; Alonso Blanco, M; Barrio Castellanos, R

    2008-02-01

    There is wide variation in the clinical expression of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed boys have normal male phenotype at birth, while those diagnosed postnatally show a wide spectrum of phenotypes, ranging from Turner syndrome, mixed gonadal dysgenesis, and male pseudohermaphroditism to apparent normality. We report the clinical, cytogenetic, endocrinologic and histologic findings in three boys with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of their short stature. With the exception of one patient with Turner stigmata, no other abnormal features were found. No correlation between the proportion of 45,X/46,XY cell lines in blood, gonads and phenotype was found. Both prenatally and postnatally diagnosed boys with normal male phenotype must be followed-up because they can develop late-onset abnormalities, such as dysgenetic testes leading to infertility or neoplastic transformation, and short stature, which could be improved with growth hormone therapy.

  9. Predictors of Stature Concerns among Young Chinese Women and Men

    Directory of Open Access Journals (Sweden)

    Qingqing Sun

    2017-07-01

    Full Text Available Stature concerns are a prominent source of body dissatisfaction for Chinese teenagers and young adults, yet little is known about the psychological factors that account for it. Therefore, this study examined social cultural model and objectification theory as explanations for stature concerns in a sample of undergraduate men and women from a university in Henan, China. Given height is a salient physical attribute for Chinese adolescents and young adults, we extended past studies on objectification theory by adding separate measures for stature surveillance. Participants (231 men, 473 women completed a questionnaire assaying measures of sociocultural model features (appearance pressure from mass media and close interpersonal networks, appearance social comparisons, objectified body consciousness (body surveillance, body shame, stature surveillance, and stature concerns. In multiple regression models for each gender, appearance pressure from the mass media and stature surveillance were robust predictors of stature concerns for both genders, independent of reported height. Body surveillance predicted stature concerns for women but not men. These findings contribute to the broader field of multicultural body image research and may help to account for specific culturally salient appearance concerns within samples of young Chinese women and men.

  10. Predictors of Stature Concerns among Young Chinese Women and Men.

    Science.gov (United States)

    Sun, Qingqing

    2017-01-01

    Stature concerns are a prominent source of body dissatisfaction for Chinese teenagers and young adults, yet little is known about the psychological factors that account for it. Therefore, this study examined social cultural model and objectification theory as explanations for stature concerns in a sample of undergraduate men and women from a university in Henan, China. Given height is a salient physical attribute for Chinese adolescents and young adults, we extended past studies on objectification theory by adding separate measures for stature surveillance. Participants (231 men, 473 women) completed a questionnaire assaying measures of sociocultural model features (appearance pressure from mass media and close interpersonal networks, appearance social comparisons), objectified body consciousness (body surveillance, body shame, stature surveillance), and stature concerns. In multiple regression models for each gender, appearance pressure from the mass media and stature surveillance were robust predictors of stature concerns for both genders, independent of reported height. Body surveillance predicted stature concerns for women but not men. These findings contribute to the broader field of multicultural body image research and may help to account for specific culturally salient appearance concerns within samples of young Chinese women and men.

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

    Science.gov (United States)

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

    2012-03-01

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

  12. Stature estimation from foramen magnum region in Chinese population.

    Science.gov (United States)

    Cui, Yaming; Zhang, Jizong

    2013-09-01

    Estimation of stature from body parts plays a vital role in identifying the dead. This study focused on dimensions of the foramen magnum region and examined the relationship between stature and the dimensions of the foramen magnum region in northern and southern Chinese populations. Measurements were taken on the skulls of 276 individuals (all male). Data on 48 individuals from northern China and 140 from southern China were used for further stature reconstruction of the above two populations in China. Statistical analyses indicate that bilateral variation is insignificant for all measurements except maximum length of condyle in the southern Chinese population (p < 0.01) and that the northern and southern populations differ significantly only in the minimum distance between condyles. Linear and multiple regression equations for stature estimation were established. The correlation coefficients between stature and the various measurements differed between the northern and southern Chinese populations. © 2013 American Academy of Forensic Sciences.

  13. Error tolerant indexing and alignment of short reads with covering template families.

    Science.gov (United States)

    Giladi, Eldar; Healy, John; Myers, Gene; Hart, Chris; Kapranov, Philipp; Lipson, Doron; Roels, Steve; Thayer, Edward; Letovsky, Stan

    2010-10-01

    The rapid adoption of high-throughput next generation sequence data in biological research is presenting a major challenge for sequence alignment tools—specifically, the efficient alignment of vast amounts of short reads to large references in the presence of differences arising from sequencing errors and biological sequence variations. To address this challenge, we developed a short read aligner for high-throughput sequencer data that is tolerant of errors or mutations of all types—namely, substitutions, deletions, and insertions. The aligner utilizes a multi-stage approach in which template-based indexing is used to identify candidate regions for alignment with dynamic programming. A template is a pair of gapped seeds, with one used with the read and one used with the reference. In this article, we focus on the development of template families that yield error-tolerant indexing up to a given error-budget. A general algorithm for finding those families is presented, and a recursive construction that creates families with higher error tolerance from ones with a lower error tolerance is developed.

  14. Short (

    NARCIS (Netherlands)

    Telleman, Gerdien; den Hartog, Laurens

    2013-01-01

    Aim: This systematic review assessed the implant survival rate of short (<10 mm) dental implants installed in partially edentulous patients. A case report of a short implant in the posterior region have been added. Materials and methods: A search was conducted in the electronic databases of MEDLINE

  15. Short (

    NARCIS (Netherlands)

    Telleman, Gerdien; den Hartog, Laurens

    2013-01-01

    Aim: This systematic review assessed the implant survival rate of short (<10 mm) dental implants installed in partially edentulous patients. A case report of a short implant in the posterior region have been added. Materials and methods: A search was conducted in the electronic databases of MEDLINE

  16. BoS: a large and diverse family of short interspersed elements (SINEs) in Brassica oleracea.

    Science.gov (United States)

    Zhang, Xiaoyu; Wessler, Susan R

    2005-05-01

    Short interspersed elements (SINEs) are nonautonomous non-LTR retrotransposons that populate eukaryotic genomes. Numerous SINE families have been identified in animals, whereas only a few have been described in plants. Here we describe a new family of SINEs, named BoS, that is widespread in Brassicaceae and present at approximately 2000 copies in Brassica oleracea. In addition to sharing a modular structure and target site preference with previously described SINEs, BoS elements have several unusual features. First, the head regions of BoS RNAs can adopt a distinct hairpin-like secondary structure. Second, with 15 distinct subfamilies, BoS represents one of the most diverse SINE families described to date. Third, several of the subfamilies have a mosaic structure that has arisen through the exchange of sequences between existing subfamilies, possibly during retrotransposition. Analysis of BoS subfamilies indicate that they were active during various time periods through the evolution of Brassicaceae and that active elements may still reside in some Brassica species. As such, BoS elements may be a valuable tool as phylogenetic makers for resolving outstanding issues in the evolution of species in the Brassicaceae family.

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

    Science.gov (United States)

    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.

  18. Effect of recombinant human growth hormone on serum levels of insulin like growth factor 1 and insulin-like growth factor binding protein 3 in children with idiopathic short stature%重组人生长激素对特发性矮小患儿症血清胰岛素样生长因子1与胰岛素样生长因子结合蛋白3水平的影响

    Institute of Scientific and Technical Information of China (English)

    干冬梅; 石小军

    2015-01-01

    目的:探讨重组人生长激素对特发性矮小症患儿血清胰岛素样生长因子1(insulin-like growth factor-1,IGF-1)与胰岛素样生长因子结合蛋白3(insulin-like growth factor binding protein-3,IGFBP-3)水平的影响。方法收集宁波市妇女儿童医院儿5科收治的特发性矮小症患儿48例,随机分为对照组和实验组,每组各24例,对照组患儿给予营养治疗,实验组在对照组基础上给予重组人生长激素治疗,均治疗12个月。治疗结束后,对所有患儿的血清胰岛素样生长因子1、胰岛素样生长因子结合蛋白3水平及身高进行检测。结果与对照组治疗后比较,实验组患儿的血清IGF-1水平较高( P<0.05);实验组患儿的血清IGFBP-3水平较高( P<0.05);实验组患儿的身高较高(P<0.05)。结论重组人生长激素能够显著提高特发性矮小症患儿血清IGF-1、IGFBP-3水平,促进患儿生长,对临床有指导意义。%Objective To investigate the effect of recombinant human growth hormone on serum levels of insulin like growth factor 1(IGF-1) and insulin-like growth factor binding protein 3(IGFBP-3)in children with short stature.Methods 48 children were diagnosed with idiopathic short stature were collected.All children were randomly divided into control group and experimental group ,24 cases in each group.Children in control group received nutritional therapy, children in experimental group were given recombinant human growth hormone on the basis of control group treatment, both group were treated for 12 month.After the treatment, the serum levels of IGF-1,IGFBP-3 and the height were detected in all children.Results Compared with control group post-treatment,,the serum level of IGF-1 was higher in experimental group ( P<0.05 );the serum level of IGFBP-3 was higher in experimental group ( P<0.05 );the height was higher in experimental group ( P<0.05 ) .Conclusion

  19. Evolutionary modes of emergence of short interspersed nuclear element (SINE) families in grasses.

    Science.gov (United States)

    Kögler, Anja; Schmidt, Thomas; Wenke, Torsten

    2017-08-30

    Short interspersed nuclear elements (SINEs) are non-autonomous transposable elements which are propagated by retrotransposition and constitute an inherent part of the genome of most eukaryotic species. Knowledge of heterogeneous and highly abundant SINEs is crucial for de novo (or improvement of) annotation of whole genome sequences. We scanned Poaceae genome sequences of six important cereals (Oryza sativa, Triticum aestivum, Hordeum vulgare, Panicum virgatum, Sorghum bicolor, Zea mays) and Brachypodium distachyon to examine the diversity and evolution of SINE populations. We comparatively analyzed the structural features, distribution, evolutionary relation and abundance of 32 SINE families and subfamilies within grasses, comprising 11 052 individual copies. The investigation of activity profiles within the Poaceae provides insights into their species-specific diversification and amplification. We found that Poaceae SINEs (PoaS) fall into two length categories: simple SINEs of up to 180 bp and dimeric SINEs larger than 240 bp. Detailed analysis at the nucleotide level revealed that multimerization of related and unrelated SINE copies is an important evolutionary mechanism of SINE formation. We conclude that PoaS families diversify by massive reshuffling between SINE families, likely caused by insertion of truncated copies, and provide a model for this evolutionary scenario. Twenty-eight of 32 PoaS families and subfamilies show significant conservation, in particular either in the 5' or 3' regions, across Poaceae species and share large sequence stretches with one or more other PoaS families. © 2017 The Authors The Plant Journal © 2017 John Wiley & Sons Ltd.

  20. Short-Term Effects on Family Communication and Adolescent Conduct Problems: Familias Unidas in Ecuador.

    Science.gov (United States)

    Molleda, Lourdes; Estrada, Yannine; Lee, Tae Kyoung; Poma, Sofia; Terán, Ana M Quevedo; Tamayo, Cecilia Condo; Bahamon, Monica; Tapia, Maria I; Velázquez, Maria R; Pantin, Hilda; Prado, Guillermo

    2016-12-16

    Familias Unidas, a Hispanic/Latino-specific, parent-centered intervention, found to be efficacious in improving family functioning and reducing externalizing behaviors among youth in the USA, was recently adapted and tested for use in Ecuador. This study examined the short-term efficacy of Familias Unidas in Ecuador on parent-adolescent communication, parental monitoring of peers, and youth conduct problems. Two hundred thirty-nine youths (ages 12-14 years) and their primary care givers were randomized to either Familias Unidas or Community Practice and assessed pre- and post-intervention. There was a significant difference between Familias Unidas and Community Practice in conduct problems at 3 months (standardized β = -.101, p = .001, effect size = .262). A significant indirect intervention effect was also detected, indicating that Familias Unidas predicted conduct problems at 3 months through parent-adolescent communication at 3 months (standardized β = -.036, p = .016, CI 95% [-.066, -.007], effect size = .265). Familias Unidas was efficacious in reducing conduct problems through improved parent-adolescent communication, relative to Community Practice. Future assessments will determine whether Familias Unidas also has an impact on substance use and sexual risk behaviors at later time points, as demonstrated in past Familias Unidas trials. The short-term effects of the intervention, family engagement, and facilitator skill in the Ecuadorian adaptation of Familias Unidas are promising. This study implies that an intervention developed for Hispanics/Latinos in the USA and culturally adapted and implemented for use by Hispanics/Latinos in a Latin American country can be efficacious in improving family functioning and reducing youth conduct problems.

  1. Short Exogenous Peptides Regulate Expression of CLE, KNOX1, and GRF Family Genes in Nicotiana tabacum.

    Science.gov (United States)

    Fedoreyeva, L I; Dilovarova, T A; Ashapkin, V V; Martirosyan, Yu Ts; Khavinson, V Kh; Kharchenko, P N; Vanyushin, B F

    2017-04-01

    Exogenous short biologically active peptides epitalon (Ala-Glu-Asp-Gly), bronchogen (Ala-Glu-Asp-Leu), and vilon (Lys-Glu) at concentrations 10(-7)-10(-9) M significantly influence growth, development, and differentiation of tobacco (Nicotiana tabacum) callus cultures. Epitalon and bronchogen, in particular, both increase growth of calluses and stimulate formation and growth of leaves in plant regenerants. Because the regulatory activity of the short peptides appears at low peptide concentrations, their action to some extent is like that of the activity of phytohormones, and it seems to have signaling character and epigenetic nature. The investigated peptides modulate in tobacco cells the expression of genes including genes responsible for tissue formation and cell differentiation. These peptides differently modulate expression of CLE family genes coding for known endogenous regulatory peptides, the KNOX1 genes (transcription factor genes) and GRF (growth regulatory factor) genes coding for respective DNA-binding proteins such as topoisomerases, nucleases, and others. Thus, at the level of transcription, plants have a system of short peptide regulation of formation of long-known peptide regulators of growth and development. The peptides studied here may be related to a new generation of plant growth regulators. They can be used in the experimental botany, plant molecular biology, biotechnology, and practical agronomy.

  2. Peptides encoded by short ORFs control development and define a new eukaryotic gene family.

    Directory of Open Access Journals (Sweden)

    Máximo Ibo Galindo

    2007-05-01

    Full Text Available Despite recent advances in developmental biology, and the sequencing and annotation of genomes, key questions regarding the organisation of cells into embryos remain. One possibility is that uncharacterised genes having nonstandard coding arrangements and functions could provide some of the answers. Here we present the characterisation of tarsal-less (tal, a new type of noncanonical gene that had been previously classified as a putative noncoding RNA. We show that tal controls gene expression and tissue folding in Drosophila, thus acting as a link between patterning and morphogenesis. tal function is mediated by several 33-nucleotide-long open reading frames (ORFs, which are translated into 11-amino-acid-long peptides. These are the shortest functional ORFs described to date, and therefore tal defines two novel paradigms in eukaryotic coding genes: the existence of short, unprocessed peptides with key biological functions, and their arrangement in polycistronic messengers. Our discovery of tal-related short ORFs in other species defines an ancient and noncanonical gene family in metazoans that represents a new class of eukaryotic genes. Our results open a new avenue for the annotation and functional analysis of genes and sequenced genomes, in which thousands of short ORFs are still uncharacterised.

  3. Comparative Study on Sequence–Structure–Function Relationship of the Human Short-chain Dehydrogenases/Reductases Protein Family

    OpenAIRE

    Tang, Nu Thi Ngoc; Le, Ly

    2014-01-01

    Human short-chain dehydrogenases/reductases (SDRs) protein family has been the subject of recent studies for its critical role in human metabolism. Studies also found that single nucleotide polymorphisms of the SDR protein family were responsible for a variety of genetic diseases, including type II diabetes. This study reports the effect of sequence variation on the structural and functional integrities of human SDR protein family using phylogenetics and correlated mutation analysis tools. Ou...

  4. Progress of association between gene mutations, polymorphisms of growth hormone receptor and idiopathic short stature%生长激素受体基因异常及多态性与特发性矮小的关系研究进展

    Institute of Scientific and Technical Information of China (English)

    李嫔

    2014-01-01

    随着促生长激素释放激素-生长激素-胰岛素样生长因子(GHRH-GH-IGF-1)轴和基因学研究的深入,生长激素受体基因(GHR基因)的突变及其核苷酸多态性与特发性矮小(ISS)的关系逐渐明了.GHR基因异常多发生在生长激素受体(GHR)蛋白的胞外区,可引起细胞内信号转导障碍,导致GHR蛋白功能及表达部分缺失,生长激素不能完全发挥作用或部分不敏感,从而可能发生ISS; GHR基因单核苷酸多态性(SNP),尤其是外显子Ex3多态性与ISS易感性有关.此外,GHR基因异常及SNP与ISS中IGF-1、生长激素结合蛋白血清水平及重组人生长激素治疗效果密切相关.深入研究ISS中GHR候选基因的筛查、蛋白功能表达及SNP分析,有利于提高ISS的遗传诊断水平,对明确ISS的病因及指导临床治疗具有重要意义.%With deeper studies on the endocrine axis of growth hormone-releasing hormone-growth hormone-insulin-like growth factor(GHRH-GH-IGF-1),the correlation between molecular analysis of the growth hormone receptor (GHR) gene,nucleoside acid polymorphism and idiopathic short stature(ISS) have been explored gradually.The GHR gene abnormalities often occurred in extracellular domain of GHR proteins,resulting in dysfunction of intracellular signal transduction of GHR.When the growth hormone couldn't play a role or be insensitive fully,the ISS happened.As reported,GHR single nucleotide polymorphisms(SNP),particularly the GHR-exon3 polymorphisms,have closely correlated with the susceptibility to ISS.GHR gene abnormalities and SNP often have been related to the levels of serum IGF-1 and growth hormone binding protein,and the response of recombinant human growth hormone therapy.The screening candidate genes like GHR gene in ISS,the expression of functional protein and analysis of SNP can improve level of genetic diagnosis,and would be important for clearing the etiology and regulating the clinical treatment of ISS.

  5. Estimation of stature from static and dynamic footprints.

    Science.gov (United States)

    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, pLinear regression equations for this measurement presented the smallest standard error of estimate (SEE) and highest shared variance (R(2)) of all included variables (SEE 4.16, R(2) 0.74). Our study discusses a potential anatomical explanation as to why the lateral border of the foot and hence the impression it makes upon a hard surface, is a more stable indicator in the estimation of stature. The investigation recommends the use of Calc_A4 and Calc_A5 length measurements when estimating stature from footprint impressions.

  6. Giant pubertal prolactinoma: Complete resolution following short ...

    African Journals Online (AJOL)

    2016-04-06

    Apr 6, 2016 ... disappeared in a short time with cabergoline treatment. Key words: ... stature, and delayed development of his secondary sex characteristics. .... Leong KS, Foy PM, Swift AC, Atkin SL, Hadden DR, MacFarlane IA. CSF.

  7. Weismann-Netter-Stuhl syndrome: a family report.

    Science.gov (United States)

    Alp, Hayrullah; Atabek, Mehmet Emre; Pirgon, Özgür

    2009-01-01

    Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members.

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

    Energy Technology Data Exchange (ETDEWEB)

    Thompson, D.B.; Ossowski, V.; Janssen, R.C.; Knowler, W.C.; Bogardus, C. [National Inst. of Health, Phoenix, AZ (United States)

    1995-12-04

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

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

    Science.gov (United States)

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

    2012-07-01

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

  10. 重组人生长激素治疗单纯性生长激素缺乏症和特发性矮小症患儿血清C型利钠肽氨基末端浓度与生长速率的变化%Changes of amino-terminal propeptide of C-type natriuretic peptide and growth velocity in patients with idiopathic short stature or isolated growth hormone deficiency after recombinant human growth hormone treatment

    Institute of Scientific and Technical Information of China (English)

    肖园; 王伟; 董治亚; 陆文丽; 王秀民; 孙文鑫; 王德芬; 倪继红; 陈凤生; 王俊祺

    2011-01-01

    Objective To explore the value of amino-terminal propeptide of C-type natriuretic peptide (NTproCNP) in evaluating the efficacy of therapy with recombinant human growth hormone ( rhGH ) in patients with idiopathic short stature (ISS) and isolated growth hormone deficiency ( IGHD ).Methods Forty-eight prepubertal children( IGHD n=25,ISS n=23 ) treated for at least 1 year with rhGH were included.Serum insulin-like growth factor- Ⅰ ( IGF- Ⅰ ) and NTproCNP levels were measured before starting treatment and 6 months later.Twelve months after starting treatment,all patients were assessed and annual growth velocity ( GV ),height standard deviation score ( HTSDS),and gained HTSDS (△HTSDS) were recorded.Results In GHD group,positive relationships between GV and change of IGF- ISDS( △IGF- ISDS ),GV and change of NTproCNP concentrations(△NTproCNP) were found( r=0.407,P=0.044 ;r=0.490,P=0.013 ).GH peak value was also positively associated with IGF- ISDS and NTproCNP before therapy ( r =0.558,P =0.004; r =0.630,P =0.001 ).△IGF- ISDS and △NTproCNP were positively associated after therapy ( r =0.466,P =0.019 ).In ISS group,GV was associated with △NTproCNP ( r=0.845,P< 0.01 ).Conclusions NTproCNP is a novel biomarker of growth as its level increases during growth-promoting treatment.Furthermore,IGF- Ⅰ is also valuable in evaluating the efficacy of rhGH therapy in short stature patients.%目的 探讨单纯性生长激素缺乏症(isolated growth hormone deficiency,IGHD)以及特发性矮小症(idiopathic short stature,ISS)患儿经重组人生长激素(recombinant human growth hormone,rhGH)治疗后,血清C型利钠肽氨基末端(NTproCNP)浓度的变化及其与生长速率(growth velocity,GV)的关系.方法 共有48例青春期前的患儿纳入研究(IGHD 25例,ISS 23例),并给予rhGH治疗1年.治疗前及治疗后6个月分别测血清胰岛素样生长因子-Ⅰ (IGF-Ⅰ)和NTproCNP的浓度.治疗1年后,计算所有患儿的GV、身高Z积分(HTSDS)

  11. Visual short-term memory binding deficit in familial Alzheimer's disease.

    Science.gov (United States)

    Liang, Yuying; Pertzov, Yoni; Nicholas, Jennifer M; Henley, Susie M D; Crutch, Sebastian; Woodward, Felix; Leung, Kelvin; Fox, Nick C; Husain, Masud

    2016-05-01

    Long-term episodic memory deficits in Alzheimer's disease (AD) are well characterised but, until recently, short-term memory (STM) function has attracted far less attention. We employed a recently-developed, delayed reproduction task which requires participants to reproduce precisely the remembered location of items they had seen only seconds previously. This paradigm provides not only a continuous measure of localization error in memory, but also an index of relational binding by determining the frequency with which an object is misplaced to the location of one of the other items held in memory. Such binding errors in STM have previously been found on this task to be sensitive to medial temporal lobe (MTL) damage in focal lesion cases. Twenty individuals with pathological mutations in presenilin 1 or amyloid precursor protein genes for familial Alzheimer's disease (FAD) were tested together with 62 healthy controls. Participants were assessed using the delayed reproduction memory task, a standard neuropsychological battery and structural MRI. Overall, FAD mutation carriers were worse than controls for object identity as well as in gross localization memory performance. Moreover, they showed greater misbinding of object identity and location than healthy controls. Thus they would often mislocalize a correctly-identified item to the location of one of the other items held in memory. Significantly, asymptomatic gene carriers - who performed similarly to healthy controls on standard neuropsychological tests - had a specific impairment in object-location binding, despite intact memory for object identity and location. Consistent with the hypothesis that the hippocampus is critically involved in relational binding regardless of memory duration, decreased hippocampal volume across FAD participants was significantly associated with deficits in object-location binding but not with recall precision for object identity or localization. Object-location binding may therefore

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

    Science.gov (United States)

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

    2012-02-01

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

  13. Targeted identification of short interspersed nuclear element families shows their widespread existence and extreme heterogeneity in plant genomes.

    Science.gov (United States)

    Wenke, Torsten; Döbel, Thomas; Sörensen, Thomas Rosleff; Junghans, Holger; Weisshaar, Bernd; Schmidt, Thomas

    2011-09-01

    Short interspersed nuclear elements (SINEs) are non-long terminal repeat retrotransposons that are highly abundant, heterogeneous, and mostly not annotated in eukaryotic genomes. We developed a tool designated SINE-Finder for the targeted discovery of tRNA-derived SINEs. We analyzed sequence data of 16 plant genomes, including 13 angiosperms and three gymnosperms and identified 17,829 full-length and truncated SINEs falling into 31 families showing the widespread occurrence of SINEs in higher plants. The investigation focused on potato (Solanum tuberosum), resulting in the detection of seven different SolS SINE families consisting of 1489 full-length and 870 5' truncated copies. Consensus sequences of full-length members range in size from 106 to 244 bp depending on the SINE family. SolS SINEs populated related species and evolved separately, which led to some distinct subfamilies. Solanaceae SINEs are dispersed along chromosomes and distributed without clustering but with preferred integration into short A-rich motifs. They emerged more than 23 million years ago and were species specifically amplified during the radiation of potato, tomato (Solanum lycopersicum), and tobacco (Nicotiana tabacum). We show that tobacco TS retrotransposons are composite SINEs consisting of the 3' end of a long interspersed nuclear element integrated downstream of a nonhomologous SINE family followed by successfully colonization of the genome. We propose an evolutionary scenario for the formation of TS as a spontaneous event, which could be typical for the emergence of SINE families.

  14. Targeted Identification of Short Interspersed Nuclear Element Families Shows Their Widespread Existence and Extreme Heterogeneity in Plant Genomes[W

    Science.gov (United States)

    Wenke, Torsten; Döbel, Thomas; Sörensen, Thomas Rosleff; Junghans, Holger; Weisshaar, Bernd; Schmidt, Thomas

    2011-01-01

    Short interspersed nuclear elements (SINEs) are non-long terminal repeat retrotransposons that are highly abundant, heterogeneous, and mostly not annotated in eukaryotic genomes. We developed a tool designated SINE-Finder for the targeted discovery of tRNA-derived SINEs. We analyzed sequence data of 16 plant genomes, including 13 angiosperms and three gymnosperms and identified 17,829 full-length and truncated SINEs falling into 31 families showing the widespread occurrence of SINEs in higher plants. The investigation focused on potato (Solanum tuberosum), resulting in the detection of seven different SolS SINE families consisting of 1489 full-length and 870 5′ truncated copies. Consensus sequences of full-length members range in size from 106 to 244 bp depending on the SINE family. SolS SINEs populated related species and evolved separately, which led to some distinct subfamilies. Solanaceae SINEs are dispersed along chromosomes and distributed without clustering but with preferred integration into short A-rich motifs. They emerged more than 23 million years ago and were species specifically amplified during the radiation of potato, tomato (Solanum lycopersicum), and tobacco (Nicotiana tabacum). We show that tobacco TS retrotransposons are composite SINEs consisting of the 3′ end of a long interspersed nuclear element integrated downstream of a nonhomologous SINE family followed by successfully colonization of the genome. We propose an evolutionary scenario for the formation of TS as a spontaneous event, which could be typical for the emergence of SINE families. PMID:21908723

  15. Evolutionary trends of stature in upper Paleolithic and Mesolithic Europe.

    Science.gov (United States)

    Formicola, V; Giannecchini, M

    1999-03-01

    Long bone lengths of all available European Upper Paleolithic (41 males, 25 females) and Mesolithic (171 males, 118 females) remains have been transformed into stature estimates by means of new regression equations derived from Early Holocene skeletal samples using "Fully's anatomical stature" and the major axis regression technique (Formicola & Franceschi, 1996). Statistical analysis of the data, with reference both to time and space parameters, indicates that: (1) Early Upper Paleolithic samples (pre-Glacial Maximum) are very tall; (2) Late Upper Paleolithic groups (post-Glacial Maximum) from Western Europe, compared to their ancestors, show a marked decrease in height; (3) a further, although not significant, reduction of stature affects Western Mesolithics; (4) no regional differences have been observed during both phases of the Upper Paleolithic; (5) a high level of homogeneity has also been found in the Mesolithic, both in Western and Eastern Europe; (6) the internal homogeneity found during the Mesolithic in Western and Eastern Europe is associated with marked inter-regional variability, with populations of the latter region showing systematically significantly greater stature than their Western contemporaries. Evaluation of possible causes for the great stature of the Early Upper Paleolithic samples points to high nutritional standards as the most important factor. Results obtained on later groups clearly indicate that the Last Glacial Maximum, rather than the Mesolithic transition, is the critical phase in the negative trend affecting Western European populations. While changes in the quality of the diet, and in particular decreased protein intake, provide a likely explanation for that trend, variations in levels of gene flow probably also played a role. Reasons for the West-East Mesolithic dichotomy remain unclear and lack of information for the Late Upper Paleolithic of Eastern Europe prevents insight into the remote origins of this phenomenon. Analysis

  16. Re-imagining union in Europe: The politics of body, family and reproduction in Sotiris Dimitriou’s short stories

    OpenAIRE

    Çelik Rappas, İpek Azime

    2014-01-01

    In an era of intense migrant labor flow followed by economic crisis in Greece and in several other European countries, Sotiris Dimitriou's short stories reflect on the affective influence of these changes on the fragile body of the individual as well as on social and sexual reproduction. As the body becomes a receptacle of social tensions, the ideals of healthy reproduction and communitarian identity, an ideal ""union"" based on family, are disrupted in Dimitriou's work. The author's dystopia...

  17. Use of home-made recombinant human growth hormone in the growth of children with idiopathic short stature%国产重组人生长激素对特发性矮身材儿童生长的促进效果

    Institute of Scientific and Technical Information of China (English)

    潘桂梅; 董青; 张颖; 陈志红; 李堂

    2007-01-01

    BACKGROUND:Many foreign studies confirm that recombinant human growth hormone (rhGH) is a safe and effective agent for treatment of idiopathic short stature (iSS), but there are no long-period and systematical researches reported in China.OBJECTIVE: To observe the promoting effect of rhGH on the growth of children with ISS.DESIGN: Case-control observation.SETTING: Department of Pediatrics, the Affiliated Hospital of Medical College of Qingdao University.PARTICIPANTS: Ninety-eight children with ISS who were treated in the Department of Pediatrics, the Affiliated Hospital of Medical College of Qingdao University during December 2004 to March 2006 were involved in this study.Informed consents were obtained from the guardians of these children with ISS. According to the etiological factors, the children were assigned into 2 groups: ISS group (n =30) and growth hormone deficiency (GHD) group (n =68).METHODS : The children in ISS group and GHD group received subcutaneous administration of home-made rhGH (Jinsai Pharmaceutical Co.,Ltd., Changchun at 0.15 IU/(kg ·d) and 0.1 IU/(kg ·d) respectively before sleeping within 6 months.The body height, body mass and bone age were measured before, 3 and 6 months after treatment. The local region of injection was observed and the growth rate was calculated. Bone age was calculated by graphic atlas method and body height was predicated by BP method.MAIN OUTCOME MEASURES: Body height, body mass, bone age and growth rate of children in two groups before, 3 and 6 months after treatment.RESULTS: All the 98 children wereinvolved in the result analysis, without deletion. ①Intragroup comparison: The body height, growth rate of children in two groups 3 and 6 months after treatment were significantly superior to those before treatment [ISS group: body height:(126.5±9.4), (129.1±8.6), (121.1 ±11.0) cm (P < 0.01), growth rate: (7.3±2.9), (7.5±2.7),(3.5±2.1) cm/year (P< 0.01); GHD group: body height: (111.0±13.0),(114.0±13

  18. Working Hard, Falling Short: America's Working Families and the Pursuit of Economic Security

    Science.gov (United States)

    Waldron, Tom; Roberts, Brandon; Reamer, Andrew

    2004-01-01

    The United States of America is often called the "land of opportunity," a place where hard work and sacrifice lead to economic success. Across generations, countless families have been able to live out that promise. However, more than one out of four American working families now earn wages so low that they have difficulty surviving…

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

    Science.gov (United States)

    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.

  20. A Family with Russel Silver Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Alpaslan Tuzcu

    2004-01-01

    Full Text Available Russel Silver Syndrome (RSS is a very rare syndrome with phenotypicchanges and its etiology has not explained yet. In 1953 and 1954, a specialgroup of Intrauterin Growth Reterdation, childiren with short staturealong a small triangular face, low-set ears, incurved fifth fingers and othercharactheristics were described. Our patient who come us with shortstature was a twenty years old man. His parents were relatives and he wasthe second child of a family with six children. His length was 155 cm, under-3SD. Also he had a small triangular face, his lips were towards downrightand a small mandibula. Incurved fifth fingers and short stature werepresent in all members of the family.As the result, RSS must be thought inpatients with short sature, especially who has similar phenotypicspecialities as our patient.

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

    Directory of Open Access Journals (Sweden)

    Valery Krupnik

    2014-07-01

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

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

    DEFF Research Database (Denmark)

    Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero

    2007-01-01

    Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment, age, and cohort differences. The GenomEUtwin (http://www.genomeutwin.org) consortium consists...... of eight twin cohorts (Australian, Danish, Dutch, Finnish, Italian, Norwegian, Swedish, and United Kingdom) with the total resource of hundreds of thousands of twin pairs. We performed quantitative trait locus (QTL) analysis of one of the most heritable human complex traits, adult stature (body height......) using genome-wide scans performed for 3,817 families (8,450 individuals) derived from twin cohorts from Australia, Denmark, Finland, Netherlands, Sweden, and United Kingdom with an approximate ten-centimorgan microsatellite marker map. The marker maps for different studies differed and they were...

  3. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height.

    Science.gov (United States)

    Hirschhorn, J N; Lindgren, C M; Daly, M J; Kirby, A; Schaffner, S F; Burtt, N P; Altshuler, D; Parker, A; Rioux, J D; Platko, J; Gaudet, D; Hudson, T J; Groop, L C; Lander, E S

    2001-07-01

    Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common human diseases and other complex traits in which multiple genetic and environmental factors interact to influence disease risk. We hypothesized that a highly heritable complex trait, in which the contribution of environmental factors was relatively limited, might be more amenable to linkage analysis. We therefore chose to study stature (adult height), for which heritability is approximately 75%-90% (Phillips and Matheny 1990; Carmichael and McGue 1995; Preece 1996; Silventoinen et al. 2000). We reanalyzed genomewide scans from four populations for which genotype and height data were available, using a variance-components method implemented in GENEHUNTER 2.0 (Pratt et al. 2000). The populations consisted of 408 individuals in 58 families from the Botnia region of Finland, 753 individuals in 183 families from other parts of Finland, 746 individuals in 179 families from Southern Sweden, and 420 individuals in 63 families from the Saguenay-Lac-St.-Jean region of Quebec. Four regions showed evidence of linkage to stature: 6q24-25, multipoint LOD score 3.85 at marker D6S1007 in Botnia (genomewide Pgenetically tractable and provide insight into the genetic architecture of complex traits.

  4. Short-Term Educational Intervention Improves Family Physicians' Knowledge of Depression

    Science.gov (United States)

    Kutcher, Stanley; Lauria-Horner, Bianca; MacLaren, Connie; Bujas-Bobanovic, Maja; Karlovic, Zlatko

    2003-01-01

    Introduction: Depression is frequently unrecognized and undertreated. Therefore, there is a need to increase the knowledge and skills of primary care physicians regarding management of depression. The aim of this study was to determine if a brief educational intervention can affect family physicians' knowledge of the diagnosis and treatment of…

  5. Functional and Evolutionary Characterization of the CONSTANS Gene Family in Short-Day Photoperiodic Flowering in Soybean

    OpenAIRE

    2014-01-01

    CONSTANS (CO) plays a central role in photoperiodic flowering control of plants. However, much remains unknown about the function of the CO gene family in soybean and the molecular mechanisms underlying short-day photoperiodic flowering of soybean. We identified 26 CO homologs (GmCOLs) in the soybean genome, many of them previously unreported. Phylogenic analysis classified GmCOLs into three clades conserved among flowering plants. Two homeologous pairs in Clade I, GmCOL1a/GmCOL1b and GmCOL2a...

  6. Recombination analysis of autosomal short tandem repeats in Chinese Han families.

    Science.gov (United States)

    Liu, Qiu-Ling; Luo, Hong; Zhao, Hu; Huang, Xiao-Ling; Cheng, Jian-Ding; Lu, De-Jian

    2014-03-01

    Recombination fractions between forensic STRs can be extrapolated from the International HapMap Project, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STRs because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from HapMap phase SNP data. Genotypes of nine autosomal STR pairs (TPOX-D2S1772, D5S818-CSF1PO, D7S3048-D7S820, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, D18S51-D18S1364, and D21S11-PentaD) from 207 two-generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination. The linkage analysis showed that significant linkage was observed at six STR pairs (D5S818-CSF1PO, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, and D18S51-D18S1364) with genetic distances HapMap. Their recombination fractions calculated from family data were very close to those derived from HapMap. However, three STR pairs of TPOX-D2S1772, D7S3048-D7S820, and D21S11-PentaD showed no significant linkage with genetic distances from 43.38 to 91.49 cM. Our results indicate that recombination fractions extrapolated from HapMap can provide a substitute if empirical data are unavailable for the linkage STR pair with a genetic distance spanned <36.22 cM.

  7. Aarskog syndrome: report of a family with review and discussion of nosology.

    Science.gov (United States)

    Teebi, A S; Rucquoi, J K; Meyn, M S

    1993-06-15

    Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.

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

    Science.gov (United States)

    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

  9. Online short-term heat load forecasting for single family houses

    DEFF Research Database (Denmark)

    Bacher, Peder; Madsen, Henrik; Nielsen, Henrik Aalborg

    2013-01-01

    This paper presents a method for forecasting the load for heating in a single-family house. Both space and hot tap water heating are forecasted. The forecasting model is built using data from sixteen houses in Sønderborg, Denmark, combined with local climate measurements and weather forecasts....... The models are optimized to fit the level of optimal adaptivity and the thermal dynamical response of the building. Identification of a model, which is suitable for application to all the houses, is carried out. The results show that the forecasting errors mainly are related to: unpredictable high frequency...

  10. Rational proteomics I. Fingerprint identification and cofactor specificity in the short-chain oxidoreductase (SCOR) enzyme family.

    Science.gov (United States)

    Duax, William L; Pletnev, Vladimir; Addlagatta, Anthony; Bruenn, Jeremy; Weeks, Charles M

    2003-12-01

    The short-chain oxidoreductase (SCOR) family of enzymes includes over 2000 members identified in sequenced genomes. Of these enzymes, approximately 200 have been characterized functionally, and the three-dimensional crystal structures of approximately 40 have been reported. Since some SCOR enzymes are involved in hypertension, diabetes, breast cancer, and polycystic kidney disease, it is important to characterize the other members of the family for which the biological functions are currently unknown. Although the SCOR family appears to have only a single fully conserved residue, it was possible, using bioinformatics methods, to determine characteristic fingerprints composed of 30-40 residues that are conserved at the 70% or greater level in SCOR subgroups. These fingerprints permit reliable prediction of several important structure-function features including NAD/NADP cofactor preference. For example, the correlation of aspartate or arginine residues with NAD or NADP binding, respectively, predicts the cofactor preference of more than 70% of the SCOR proteins with unknown function. The analysis of conserved residues surrounding the cofactor has revealed the presence of previously undetected CH em leader O hydrogen bonds in the majority of the SCOR crystal structures, predicts the presence of similar hydrogen bonds in 90% of the SCOR proteins of unknown function, and suggests that these hydrogen bonds may play a critical role in the catalytic functions of these enzymes.

  11. MEASUREMENT OF STATURE FROM ARM - SPAN – AN ANTHROPOMETRIC STUDY ON CHAKMA TRIBAL TRIPURI FEMALES

    Directory of Open Access Journals (Sweden)

    Ke is am Anupama

    2014-01-01

    Full Text Available CONTEXT : Arm span is the most reliable body parameter for predicting the stature of an individual. It is useful in predicting age related loss in stature and in identifying individuals with disproportionate growth abnormalities and skeletal dysplasia . Since in Tr ipura variegated ethnic groups inhabit in different climatic, nutritional and ecological conditions, no single anthropometric formula is suitable. The present study was undertaken to measure the stature, as well as arm - span and to determine whether there i s any correlation between the stature and the arm - span. And to estimate using respective multiplication factors the stature from arm span and to assess the effectiveness of the above estimation by comparing the ‘estimated’ values with the measured’ values. STUDY DESIGN : Cross sectional descriptive type of study . MATERIALS AND METHOD : The study was carried out with a total number of 100 Chakma adult female aged between 25 to 45 years. Arm - span along with their stature was measured directly from the subjects by using anthropometric technique by a measuring tape. The data were then statistically analyzed by computation to find out its normative value. Multiplication factors were estimated for estimating stature and comparison were made between measured and esti mated stature using paired “t” test. RESULT : The mean normal value of the arm - span was 148.74± 5.34 cm and the stature was 149.26±5.82cm. The multiplication factor was estimated for the same hand measurements with the stature. Significant positive correlat ion was found in case of arm - span with the stature (r =0.89

  12. Nineteenth century Mexican statures in the United States and their relationship with insolation and vitamin D.

    Science.gov (United States)

    Carson, Scott Alan

    2010-01-01

    The use of height data to measure living standards is now a well-established method in economics. However, there are still some populations, places and times for which the comparison across groups remains unclear. One example is 19th century Mexicans in the US. This study demonstrates that after comparing the statures of Mexicans born in Mexico and the US the primary source of the stature difference between the two groups was birth year, and the stature gap increased as the US economy developed while the Mexican economy stagnated. Moreover, the stature growth of Mexicans born in the US was related to vitamin D, and the Mexican relationship between stature and insolation was more like that of Europeans than Africans.

  13. Wealth, inequality, and insolation effects across the 19th century white US stature distribution.

    Science.gov (United States)

    Carson, Scott Alan

    2010-12-01

    Sources associated with 19th century stature variation have been widely considered. Using US state prison records and robust statistics, this paper illustrates that 19th century US white statures were positively associated with a broad combination of wealth, equality, and environmental characteristics. Individuals from geographic areas characterized by low wealth and high inequality had shorter statures. After controlling for various factors, direct sunlight--the primary source of vitamin D--was also positively associated with stature. After controlling for wealth, inequality, and insolation, farmers were taller than workers in other occupations. These wealth, insolation, and socioeconomic relationships are significant across the stature distribution. Copyright © 2010 Elsevier GmbH. All rights reserved.

  14. Sexual dimorphism in stature (SDS), jealousy and mate retention.

    Science.gov (United States)

    Brewer, Gayle; Riley, Charlene

    2010-10-02

    Previous research has investigated the manner in which absolute height impacts on jealousy and mate retention. Although relative height is also important, little information exists about the potential influence of sexual dimorphism in stature (SDS) within established relationships. The current study investigated the relationship between SDS and the satisfaction, jealousy and mate retention behaviors reported by men and women. Heterosexual men (n = 98) and women (n = 102) completed a questionnaire. Men in high SDS relationships reported the lowest levels of cognitive and behavioral jealousy, although the impact of SDS on relationship satisfaction was less clear. SDS was not associated with the overall use of mate retention strategies; SDS did however affect the use of three specific strategies (vigilance, monopolization of time, love and care). SDS did not affect women's relationship satisfaction, jealousy (cognitive, behavioral, or emotional) or the use of mate retention strategies (with the exception of resource display).

  15. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

    Science.gov (United States)

    Brunetti-Pierri, Nicola; Del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A

    2008-11-01

    Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome.

  16. [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

    Science.gov (United States)

    Zhang, Qiong; Jiang, Hai-ou; Quan, Qing-li; Li, Jun; He, Ting; Huang, Xue-shuang

    2011-12-01

    To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis. Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions. All patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded. The hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

  17. 特发性矮小症患儿血清生长素、瘦素、胰岛素样生长因子、胰岛素样生长因子结合蛋白表达水平及意义%The expression and significance of serum ghrelin, leptin, IGF-1, and IGFBP3 in children with idiopathic short stature

    Institute of Scientific and Technical Information of China (English)

    王平; 蒋键波; 杜姗; 王陈裕; 施宁川

    2016-01-01

    Objective To examine the expressions of serum growth hormone (ghrelin), leptin (LP), in sulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP3) in children with id-iopathic short stature (ISS), and their significance. Methods A total of 40 patients with ISS were selected from May. 2012 to Oct. 2014 in Fuyang Maternal and Child Health Hospital, while a total of 40 children in good health were selected as the control group. Serum ghrelin and LP levels were measured by ELISA. Serum IGF-1 and IGF-BP3 levels were detected by chemiluminescence immune assay. Results were analyzed statistically. Results The height, weight, BMI, GH, serum LP, IGF-1, and IGFBP3 levels in the observation group were significantly lower than those in the control group, while serum ghrelin expression level was significantly higher than that in the control group(P<0.05). The correlation analysis showed that ghrelin and LP were negatively correlated(r=-0.611, P<0.01), ghrelin and IGF-1 levels were negatively correlated(r=-0.520, P<0.05), Ghrelin and IGFBP3 were pos-itively correlated (r=0.586, P<0.01), IGF-1 and IGFBP3 was negatively correlated (r=-0.576, P<0.01), and LP and IGFBP3 were negatively correlated (r=-0.609, P<0.01). Conclusions It shows that ghrelin, LP, IGF-1, and IGFBP3 levels in children with ISS are related to growth hormone secretion status. The interactions between ghre-lin and insulin-like growth factor axis regulate growth and development of children.%目的:探讨特发性矮小症(idiopathic short stature,ISS)患儿血清生长素(Ghrelin)、瘦素(leptin, LP)、胰岛素样生长因子-1(insulin-like growth factors-1,IGF-1)及胰岛素样生长因子结合蛋白-3(insulin-like growth factor binding protein-3,IGFBP3)表达水平及其在特发性矮小症患儿生长发育中的意义。方法选取2012年5月至2014年10月来富阳市妇幼保健院儿科治疗的40例特发性矮小症患

  18. Estimation of stature from hand dimensions in Bengalee population, West Bengal, India

    Directory of Open Access Journals (Sweden)

    Amitava Pal

    2016-06-01

    Full Text Available Stature estimation from decomposing bodies and incomplete skeletons particularly in personal identification is considered as one of the biggest aspects of forensic science. This issue has gained importance in recent times due to mass disasters like terrorist attacks, mass murders, transport accidents, floods and earthquakes. Thus, the present study was undertaken to set up a standard formulae to estimate stature from hand dimensions in the Bengalee population. Measurements of different hand dimensions and statures were taken from 1662 adult Bengalee women aged from 20 to 40 years following the standard technique and appropriate landmarks. There was no statistically significant bilateral variation of the measurements. The correlation coefficients between stature and all variables were positive and statistically significant (p < 0.001. The hand length and palm length showed a better correlation with stature than the other variables. Simple linear regression equations and multiple linear regression equation were formulated for stature estimation using the hand dimensions. The derived equations were applied to the control group and it was noted that the percentage difference between true stature of the control and the estimated stature ranged from 0.01% to 0.15%. The multiple linear regression equation was more reliable than the simple linear regression equations as a lower standard error of estimate and higher value of determination coefficient and multiple correlation coefficient. From the results of the present study, it may be concluded that hand dimensions can be successfully used for estimating stature of adult Bengalee women in forensic practice by enforcement agencies and forensic scientists.

  19. Stature estimation from the femur and tibia in Black South African sub-adults.

    Science.gov (United States)

    Brits, Desiré M; Bidmos, Mubarak A; Manger, Paul R

    2017-01-01

    Stature estimation can play a role in the positive identification of unknown individuals and as such it is routinely assessed during the examination of adult remains. Unfortunately, this is not a standard procedure when dealing with sub-adult remains due to the general lack of standard procedures for the estimation of sub-adult stature. The aim of this study was therefore to derive regression equations for the estimation of stature in black South African sub-adults. Fifty nine black South African sub-adult males and females, aged 10-17 years, voluntarily participated in the study by undergoing a full body Magnetic Resonance Imaging (MRI) scan. Living stature was measured with a stadiometer and the maximum and diaphyseal lengths of the femur and tibia were measured from the MRI scans using the image processing software OsiriX. Pearson's correlation coefficients and linear least square regression analyses were used to assess the correlations between living stature and the measurements and to generate sub-adult stature estimation equations for males, females and a combined sex sample. Measurements of the femur, tibia and the combined measures thereof showed strong statistically significant positive correlations with living stature, while the obtained regression equations were characterized by low standard error of estimates. The strong correlations and low standard error of estimates are comparable to stature estimation models reported for Black South African adults and therefore these variables can be considered good estimators of sub-adult stature which will contribute valuable information to the biological profile of unidentified sub-adult skeletal remains.

  20. Functional hoarseness in children: short-term play therapy with family dynamic counseling as therapy of choice.

    Science.gov (United States)

    Kollbrunner, Jürg; Seifert, Eberhard

    2013-09-01

    Children with nonorganic voice disorders (NVDs) are treated mainly using direct voice therapy techniques such as the accent method or glottal attack changes and indirect methods such as vocal hygiene and voice education. However, both approaches tackle only the symptoms and not etiological factors in the family dynamics and therefore often enjoy little success. The aim of the "Bernese Brief Dynamic Intervention" (BBDI) for children with NVD was to extend the effectiveness of pediatric voice therapies with a psychosomatic concept combining short-term play therapy with the child and family dynamic counseling of the parents. This study compares the therapeutic changes in three groups where different procedures were used, before intervention and 1 year afterward: counseling of parents (one to two consultations; n = 24), Brief Dynamic Intervention on the lines of the BBDI (three to five play therapy sessions with the child plus two to four sessions with the parents; n = 20), and traditional voice therapy (n = 22). A Voice Questionnaire for Parents developed by us with 59 questions to be answered on a four-point Likert scale was used to measure the change. According to the parents' assessment, a significant improvement in voice quality was achieved in all three methods. Counseling of parents (A) appears to have led parents to give their child more latitude, for example, they stopped nagging the child or demanding that he/she should behave strictly by the rules. After BBDI (B), the mothers were more responsive to their children's wishes and the children were more relaxed and their speech became livelier. At home, they called out to them less often at a distance, which probably improved parent-child dialog. Traditional voice therapy (C) seems to have had a positive effect on the children's social competence. BBDI seems to have the deepest, widest, and therefore probably the most enduring therapeutic effect on children with NVD.

  1. The Salmon Smai Family of Short Interspersed Repetitive Elements (Sines): Interspecific and Intraspecific Variation of the Insertion of Sines in the Genomes of Chum and Pink Salmon

    OpenAIRE

    Takasaki, N.; Yamaki, T.; Hamada, M.; Park, L; Okada, N

    1997-01-01

    The genomes of chum salmon and pink salmon contain a family of short interspersed repetitive elements (SINEs), designated the salmon SmaI family. It is restricted to these two species, a distribution that suggests that this SINE family might have been generated in their common ancestor. When insertions of the SmaI SINEs at 10 orthologous loci of these species were analyzed, however, it was found that there were no shared insertion sites between chum and pink salmon. Furthermore, at six loci w...

  2. Rational proteomics II: electrostatic nature of cofactor preference in the short-chain oxidoreductase (SCOR) enzyme family.

    Science.gov (United States)

    Pletnev, Vladimir Z; Weeks, Charles M; Duax, William L

    2004-11-01

    The dominant role of long-range electrostatic interatomic interactions in nicotinamide adenine dinucleotide/nicotinamide adenine dinucleotide phosphate (NAD/NADP) cofactor recognition has been shown for enzymes of the short-chain oxidoreductase (SCOR) family. An estimation of cofactor preference based only on the contribution of the electrostatic energy term to the total energy of enzyme-cofactor interaction has been tested for approximately 40 known three-dimensional (3D) crystal complexes and approximately 330 SCOR enzymes, with cofactor preference predicted by the presence of Asp or Arg recognition residues at specific 3D positions in the beta2alpha3 loop (Duax et al., Proteins 2003;53:931-943). The results obtained were found to be consistent with approximately 90% reliable cofactor assignments for those subsets. The procedure was then applied to approximately 170 SCOR enzymes with completely uncertain NAD/NADP dependence, due to the lack of Asp and Arg marker residues. The proposed 3D electrostatic approach for cofactor assignment ("3D_DeltaE(el)") has been implemented in an automatic screening procedure, and together with the use of marker residues proposed earlier (Duax et al., Proteins 2003;53:931-943), increases the level of reliable predictions for the putative SCORs from approximately 70% to approximately 90%. It is expected to be applicable for any NAD/NADP-dependent enzyme subset having at least 25-30% sequence identity, with at least one enzyme of known 3D crystal structure.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    Fischer, Barbara; Mitteroecker, Philipp

    2015-05-05

    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.

  5. Age, Sex and Stature Estimation from Footprint Dimensions

    Directory of Open Access Journals (Sweden)

    Paurbhi Singh

    2017-04-01

    Full Text Available Objectives: The present study was carried out to evaluate the utility and reliability of footprint dimensions in age, sex and stature determination in the North Indian population. Materials and Methods: This study was carried out using a sample of 400 people (146 female and 254 male aged 10-65 years in Uttar Pradesh, North Western state of India. Footprints of both feet were taken bilaterally, and thus a total of 800 prints were obtained. A cluster of 7 measurements were taken carefully with the help of a scientific scale ruler. Five measurements were length dimensions from the most anterior part of the toe (T1–T5 to the mid rear heel point and two were breadth dimensions from both left and right footprints: breadth at ball (BBAL, breadth at heel (BHEL and 2 indexes: heel-ball Index (HBI and footprint index (FPI. All data were analyzed statistically using Student’s t-test, regression coefficient and Pearson’s correlation for the estimation of sex on the basis of footprint dimensions. Results: The T1 in left footprints was greater than right footprints in males, while T1 and BBAL were both found to be greater in left footprints than right footprints in females. All the seven foot dimensions were higher in males than females. Conclusion: There were statistically significant differences observed in all footprint dimensions between the male and female footprints except LFPI, LHBI, and RHBI.

  6. MARKET SHORT CHAINS IN THE FAMILY LIVESTOCK: ONE RELOCATION PROCESS IN THE TERRITORY ALTO CAMAQUÃ IN SOUTHERN RIO GRANDE DO SUL/BRAZIL

    Directory of Open Access Journals (Sweden)

    Alessandra Matte

    2016-09-01

    Full Text Available The aim of this paper is to study a case of food relocation and training of short chains in a given location in southern Rio Grande do Sul, through the sale of lamb ranchers for family livestock planning Alto Camaquã. Thus, the case analyzed involved an ongoing experience of building the family livestock farmers markets, in particular the production and marketing of lamb. The market lamb of family livestock farmers get highlighted because it consists of a strategy for upgrading the merits of origin for food, highlighting the construction of short chains in strategic ways compiled between producers and consumers to establish marketing relationships of producers, building thus a process of upgrading a place and a product. Thus, local sales by small producers is, among many meanings, a commitment to preserving the community, tradition, tacit knowledge, and other nonmarket values

  7. Determination of stature from cephalo-facial dimensions in a North Indian population.

    Science.gov (United States)

    Krishan, Kewal; Kumar, Raj

    2007-05-01

    A forensic medicine specialist, while a conducting medico-legal autopsy, is often asked to opine about the identity of the deceased in unknown fragmentary and dismembered remains. Determination of stature is an important aspect in establishing identity in such cases. Sometimes, cephalo-facial remains are brought for postmortem and forensic examination. The aim of the present study was to estimate the stature from cephalo-facial dimensions in a sample of 252 Koli male adolescents from North India. As a part of Indian caste system, Kolis are an endogamous group of North India. Along with stature, sixteen cephalo-facial measurements were taken on each subject. The findings suggest that all the cephalo-facial measurements are significantly correlated with stature (PIndia (genetically heterogeneous population, n=90).

  8. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

    Directory of Open Access Journals (Sweden)

    Maria Valencia

    2015-01-01

    Full Text Available Background. Ellis-van Creveld (EvC syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885* and c.2012_2015del (p.(Leu671* in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

  9. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.

    Science.gov (United States)

    Valencia, Maria; Tabet, Lara; Yazbeck, Nadine; Araj, Alia; Ruiz-Perez, Victor L; Charaffedine, Khalil; Fares, Farah; Badra, Rebecca; Farra, Chantal

    2015-01-01

    Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885(*))) and c.2012_2015del (p.(Leu671(*))) in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

  10. A Study of Relation of Stature with Foot Length in Natives of Gujarat State

    Directory of Open Access Journals (Sweden)

    Utsav Parekh

    2014-01-01

    Full Text Available Establishment of an identity is very much important in both civil and criminal cases. Stature is one of the criteria of personal identification. Many studies have shown that limbs exhibit consistent ratios relatives to the total height of a person. A very little work has been done for stature estimation from foot length in Gujarat state. So, the present study was carried out for estimation of stature from the foot length of total 200 medical students (116 Males and 84 Females in 17-21 years age group in dept of Forensic Medicine and Toxicology, Smt. N. H. L. Municipal Medical College, Ahmedabad, Gujarat. Stature and foot length measurements of each one of them were taken using standard instruments. Foot length was defined as straight distance from the most prominent part of the heel backwards (pternion to the most distal part of the longest toe (acropodian. Data was analyzed and a good correlation was observed and it was statistically highly significant (p<0.001. It was concluded that there is positive correlation between stature and foot length in a particular population and the estimation of stature among the population can be carried out using foot length. The result of the present study would be useful for anthropologists and Forensic Medicine Experts.

  11. Psychometric properties and validation of the Italian version of the Family Assessment Measure Third Edition - Short Version - in a nonclinical sample.

    Science.gov (United States)

    Pellerone, Monica; Ramaci, Tiziana; Parrello, Santa; Guariglia, Paola; Giaimo, Flavio

    2017-01-01

    Family functioning plays an important role in developing and maintaining dysfunctional behaviors, especially during adolescence. The lack of indicators of family functioning, as determinants of personal and interpersonal problems, represents an obstacle to the activities aimed at developing preventive and intervention strategies. The Process Model of Family Functioning provides a conceptual framework organizing and integrating various concepts into a comprehensive family assessment; this model underlines that through the process of task accomplishment, each family meets objectives central to its life as a group. The Family Assessment Measure Third Edition (FAM III), based on the Process Model of Family Functioning, is among the most frequently used self-report instruments to measure family functioning. The present study aimed to evaluate the psychometric properties of the Italian version of the Family Assessment Measure Third Edition - Short Version (Brief FAM-III). It consists of three modules: General Scale, which evaluates the family as a system; Dyadic Relationships Scale, which examines how each family member perceives his/her relationship with another member; and Self-Rating Scale, which indicates how each family member is perceived within the nucleus. The developed Brief FAM-III together with the Family Assessment Device were administered to 484 subjects, members of 162 Italian families, formed of 162 fathers aged between 35 and 73 years; 162 mothers aged between 34 and 69 years; and 160 children aged between 12 and 35 years. Correlation, paired-sample t-test, and reliability analyses were carried out. General item analysis shows good indices of reliability with Cronbach's α coefficients equal to 0.96. The Brief FAM-III has satisfactory internal consistency, with Cronbach's α equal to 0.90 for General Scale, 0.94 for Dyadic Relationships Scale, and 0.88 for the Self-Rating Scale. The Brief FAM-III can be a psychometrically reliable and valid measure for

  12. Systemic concentrations of short chain fatty acids are elevated in salmonellosis and exacerbation of familial Mediterranean fever

    Directory of Open Access Journals (Sweden)

    Zhanna eKtsoyan

    2016-05-01

    Full Text Available Gut microbiota-produced short chain fatty acids (SCFAs play an important role in the normal human metabolism and physiology. Although the gradients of SCFAs from the large intestine, where they are largely produced, to the peripheral blood as well as the main routes of SCFA metabolism by different organs are known well for the healthy state, there is a paucity of information regarding how these are affected in disease. In particular, how the inflammation caused by infection or autoinflammatory disease affect the concentration of SCFAs in the peripheral venous blood. In this work, we revealed that diseases caused either by infectious agents (two Salmonella enterica serovars, S. Enteritidis and S. Typhimurium or by the exacerbation of an autoinflammatory disease, familial Mediterranean fever (FMF, both result in a significantly elevated systemic concentration of SCFAs. In the case of salmonellosis the concentration of SCFAs in peripheral blood was significantly and consistently higher, from five- to 20-fold, compared to control. In the case of FMF, however, a significant increase of SCFAs in the peripheral venous blood was detected only in the acute phase of the disease, with a lesser impact in remission. It seems counterintuitive that the dysbiotic conditions, with a reduced number of gut microorganisms, produce such an effect. This phenomenon, however, must be appraised within the context of how the inflammatory diseases affect the normal physiology. We discuss a number of factors that may contribute to the leak and persistence of gut-produced SCFAs into the systemic circulation in infectious and autoinflammatory diseases.

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

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    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.

  14. Assessment of short stature in children : auxological screening and diagnostic work-up

    NARCIS (Netherlands)

    Grote, Floor Katelijn

    2007-01-01

    Growth impairment is considered a relatively early sign of poor health in children. Depending on its setting and the age of the child the impairment is expressed in several ways. In industrialized countries, where malnutrition is rare, the major purpose of growth monitoring, implying regular

  15. Blood lead, anemia, and short stature are independently associated with cognitive performance in Mexican school children.

    Science.gov (United States)

    Kordas, Katarzyna; Lopez, Patricia; Rosado, Jorge L; García Vargas, Gonzalo; Alatorre Rico, Javier; Ronquillo, Dolores; Cebrián, Mariano E; Stoltzfus, Rebecca J

    2004-02-01

    Lead exposure and nutritional factors are both associated with cognitive performance. Lead toxicity and nutritional status are also associated with each other. We examined whether nutritional status variables account for part or all of the association between cognitive performance and lead exposure. First-grade children (n = 724) ages 6-8 y, attending Mexican public schools located in the vicinity of a metal foundry were asked to participate and 602 enrolled in the study. Blood lead, iron status, anemia, anthropometry, and cognitive function were assessed. Results from 7 standardized tests are presented here. The mean blood lead concentration was 11.5 +/- 6.1 micro g/dL (0.56 +/- 0.30 micro mol/L) and 50% of the children had concentrations >10 micro g/dL (0.48 micro mol/L). The prevalence of mild anemia (lead was negatively associated with 4 cognitive tests and was also inversely correlated with iron status, height-for-age Z scores, and head circumference. In multivariate models, the association between lead and cognitive performance was not strongly affected by nutritional variables, suggesting that the relation of lead to cognition is not explained by lead's relation to iron deficiency anemia or growth retardation. In multivariate models, hemoglobin concentration was also positively associated with Peabody Picture Vocabulary Test and Number Sequencing performance, whereas serum ferritin was negatively related to the Coding subscale of the Wechsler Intelligence Scales for Children-Revised Mexican Version (WISC-RM).

  16. Family Therapy

    Science.gov (United States)

    ... may be credentialed by the American Association for Marriage and Family Therapy (AAMFT). Family therapy is often short term. ... challenging situations in a more effective way. References Marriage and family therapists: The friendly mental health professionals. American Association ...

  17. Association between intake of dairy products and short-term memory with and without adjustment for genetic and family environmental factors: A twin study.

    Science.gov (United States)

    Ogata, Soshiro; Tanaka, Haruka; Omura, Kayoko; Honda, Chika; Hayakawa, Kazuo

    2016-04-01

    Previous studies have indicated associations between intake of dairy products and better cognitive function and reduced risk of dementia. However, these studies did not adjust for genetic and family environmental factors that may influence food intake, cognitive function, and metabolism of dairy product nutrients. In the present study, we investigated the association between intake of dairy products and short-term memory with and without adjustment for almost all genetic and family environmental factors using a genetically informative sample of twin pairs. A cross-sectional study was conducted among twin pairs aged between 20 and 74. Short-term memory was assessed as primary outcome variable, intake of dairy products was analyzed as the predictive variable, and sex, age, education level, marital status, current smoking status, body mass index, dietary alcohol intake, and medical history of hypertension or diabetes were included as possible covariates. Generalized estimating equations (GEE) were performed by treating twins as individuals and regression analyses were used to identify within-pair differences of a twin pair to adjust for genetic and family environmental factors. Data are reported as standardized coefficients and 95% confidence intervals (CI). Analyses were performed on data from 78 men and 278 women. Among men, high intake of dairy products was significantly associated with better short-term memory after adjustment for the possible covariates (standardized coefficients = 0.22; 95% CI, 0.06-0.38) and almost all genetic and family environmental factors (standardized coefficients = 0.38; 95% CI, 0.07-0.69). Among women, no significant associations were found between intake of dairy products and short-term memory. Subsequent sensitivity analyses were adjusted for small samples and showed similar results. Intake of dairy product may prevent cognitive declines regardless of genetic and family environmental factors in men. Copyright © 2015 Elsevier Ltd

  18. Stature estimation from footprint measurements in Indian Tamils by regression analysis

    Directory of Open Access Journals (Sweden)

    T. Nataraja Moorthy

    2014-03-01

    Full Text Available Stature estimation is of particular interest to forensic scientists for its importance in human identification. Footprint is one piece of valuable physical evidence encountered at crime scenes and its identification can facilitate narrowing down the suspects and establishing the identity of the criminals. Analysis of footprints helps in estimation of an individual’s stature because of the existence of the strong correlation between footprint and height. Foot impressions are still found at crime scenes, since offenders often tend to remove their footwear either to avoid noise or to gain a better grip in climbing walls, etc., while entering or exiting. In Asian countries like India, there are people who still have the habit of walking barefoot. The present study aims to estimate the stature in a sample of 2,040 bilateral footprints collected from 1,020 healthy adult male Indian Tamils, an ethnic group in Tamilnadu State, India, who consented to participate in the study and who range in age from 19 to 42 years old; this study will help to generate population-specific equations using a simple linear regression statistical method. All footprint lengths exhibit a statistically positive significant correlation with stature (p-value < 0.01 and the correlation coefficient (r ranges from 0.546 to 0.578. The accuracy of the regression equations was verified by comparing the estimated stature with the actual stature. Regression equations derived in this research can be used to estimate stature from the complete or even partial footprints among Indian Tamils.

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

    Science.gov (United States)

    Giannecchini, Monica; Moggi-Cecchi, Jacopo

    2008-03-01

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

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    Renu Kamal

    2016-12-01

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

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

    DEFF Research Database (Denmark)

    Jørkov, Marie Louise S

    2015-01-01

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

  3. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  4. Population-specific stature estimation from long bones in the early medieval Pohansko (Czech Republic).

    Science.gov (United States)

    Sládek, Vladimír; Macháček, Jiří; Ruff, Christopher B; Schuplerová, Eliška; Přichystalová, Renáta; Hora, Martin

    2015-06-29

    We tested the effect of population-specific linear body proportions on stature estimation. We used a skeletal sample of 31 males and 20 females from the Early Medieval site at Pohansko (Břeclav, Central Europe) and a comparative Central European Early Medieval sample of 45 males and 28 females. We developed new population-specific equations for the Pohansko sample using anatomical reconstructions of stature, then compared percentage prediction errors (%PEs) of anatomical stature from limb bone lengths using the derived Pohansko equations with those previously derived from more general European and other Early Medieval samples. Among general European equations, the lowest %PEs for the Pohansko sample were obtained using the equations of Formicola and Franceschi: Am J Phys Anthropol 100 (1996) 83-88 and Ruff et al.: Am J Phys Anthropol 148 (2012) 601-617. However, unexpectedly, the choice between tibial latitudinal variants proposed by Ruff et al.: Am J Phys Anthropol 148 (2012) 601-617 appeared to be sex-specific, with northern and southern variants producing lower %PEs for males and females, respectively. Equations from Breitinger: Anthropol Anz 14 (1937) 249-274, Bach: Anthropol Anz 29 (1965) 12-21, and Sjøvold: Hum Evol 5 (1990) 431-447 provided poor agreement with anatomical stature. When applied to the comparative Central European Early Medieval sample, our new formulae have generally lower %PE than previously derived formulae based on other European Early Medieval samples (Maijanen and Niskanen: Int J Osteoarchaeol 20 (2010) 472-480; Vercellotti et al.: Am J Phys Anthropol 140 (2009) 135-142. The best agreement with anatomical stature among our newly developed equations was obtained using femoral+tibial length, followed by femoral length. Upper limb bone lengths resulted in higher %PEs. Variation in the tibia is likely to contribute most to potential bias in stature estimation. Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley

  5. Impact of family planning programs in reducing high-risk births due to younger and older maternal age, short birth intervals, and high parity.

    Science.gov (United States)

    Brown, Win; Ahmed, Saifuddin; Roche, Neil; Sonneveldt, Emily; Darmstadt, Gary L

    2015-08-01

    Several studies show that maternal and neonatal/infant mortality risks increase with younger and older maternal age (34 years), high parity (birth order >3), and short birth intervals (Oaxaca decomposition technique, we then examine the contributions of family planning program, economic development (GDP per capita), and educational improvement (secondary school completion rate) on the progress of MCPR in order to link the net contribution of family planning program to the reduction of high-risk births mediated through contraceptive use. Countries that had the fastest progress in improving MCPR experienced the greatest declines in high-risk births due to short birth intervals (3), and older maternal age (>35 years). Births among younger women <18 years, however, did not decline significantly during this period. The decomposition analysis suggests that 63% of the increase in MCPR was due to family planning program efforts, 21% due to economic development, and 17% due to social advancement through women's education. Improvement in MCPR, predominately due to family planning programs, is a major driver of the decline in the burden of high-risk births due to high parity, shorter birth intervals, and older maternal age in developing countries. The lack of progress in the decline of births in younger women <18 years of age underscores the need for more attention to ensure that quality contraceptive methods are available to adolescent women in order to delay first births. This study substantiates the significance of family planning programming as a major health intervention for preventing high-risk births and associated maternal and child mortality, but it highlights the need for concerted efforts to strengthen service provision for adolescents.

  6. Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain

    DEFF Research Database (Denmark)

    Bräuner-Osborne, Hans; Krogsgaard-Larsen, P

    2000-01-01

    the receptors currently assigned to family C. However, our results strongly indicate that RAIG1 and GPRC5B form a new subgroup of family C characterized by short ATDs. GPRC5B mRNA is widely expressed in peripheral and central tissues with highest abundance in kidney, pancreas, and testis. This mRNA expression...... from an expressed sequence tag clone that contained the entire open reading frame of the transcript encoding a protein of 395 amino acids. Analysis of the protein sequence reveal that GPRC5B contains a signal peptide and seven transmembrane alpha-helices, which is a hallmark of G......-protein-coupled receptors (GPCRs). GPRC5B displays homology to retinoic acid-inducible gene 1 (RAIG1, 33% sequence identity) and to several family C (mGluR-like) GPCRs (20-25% sequence identity). Both RAIG1 and GPRC5B have short extracellular amino-terminal domains (ATDs) that contrast the very long ATDs characterizing...

  7. Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

    Directory of Open Access Journals (Sweden)

    Zhi-Min Miao

    2011-01-01

    Full Text Available Pseudohypoparathyroidism type Ia (PHP Ia is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha subunit (Gsa. A patient with typical clinical manifestations of pseudohypoparathyroidism (PHP (round face, short stature, centripetal obesity, brachydactyly, and multi-hormone resistance: parathyroid hormone (PTH, thyroid-stimulating hormone (TSH, and gonadotropins presented at our center. The sequence of the GNAS gene from the patient and her families revealed a novel missense mutation (Y318H in the proband and her mother. An in vitro Gsa functional study showed that Gsa function was significantly impaired. These results stress the importance of GNAS gene investigation.

  8. Photosynthetic acclimation to light changes in tropical monsoon forest woody species differing in adult stature

    NARCIS (Netherlands)

    Cai, Z.Q.; Rijkers, A.J.M.; Bongers, F.J.J.M.

    2005-01-01

    We studied morphological and physiological leaf and whole-plant features of seedlings of six late-successional woody species common in the Xishuangbanna lowland rain forest in southwest China. Study species differed in adult stature and shade tolerance and included the shrubs Lasianthus attenuatus J

  9. Architecture of 53 rain forest tree species differing in adult stature and shade tolerance

    NARCIS (Netherlands)

    Poorter, L.; Bongers, F.J.J.M.; Sterck, F.J.; Wöll, H.

    2003-01-01

    Tree architecture determines a tree's light capture, stability, and efficiency of crown growth. The hypothesis that light demand and adult stature of tree species within a community, independently of each other, determine species' architectural traits was tested by comparing 53 Liberian rain forest

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

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    O. S. Saka

    2016-10-01

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

  11. PREDICTION OF STATURE BY THE MEASUREMENT OF HEAD LE NGTH IN POPULATION OF RAJASTHAN

    Directory of Open Access Journals (Sweden)

    Santosh

    2013-04-01

    Full Text Available ABSTRACT: BACKGROUND: Estimation of stature has a significant importance in the field of forensic anthropometry for the identification of an individual. AIMS: Study was carried out to assess and correlate head length and the stature an d to predict the stature of an individual by head length using regression analysis. MATERIALS & METHODS: Total 300 (150 males and 150 females medical students of S.M.S medical college, Jaipur (Rajasthan were selected. Head length and height of the individual were measured. RESULTS: Correlation coefficient between height & head length were r=0.941 for Male & r= 0.8 5 for Female suggestive of strong positive correlation. Regression equations were derived to c alculate height of unknown individual from head length. CONCLUSION: Present study has established definite correlation between stature and head length. If either of the measurement (tota l height or head length is known, the other can be calculated. It will help in medico-legal case s in establishing identity of an individual when only some remains of the body are found as in mass disasters, bomb explosions, accidents etc

  12. Architecture of 53 rain forest tree species differing in adult stature and shade tolerance

    NARCIS (Netherlands)

    Poorter, L.; Bongers, F.J.J.M.; Sterck, F.J.; Wöll, H.

    2003-01-01

    Tree architecture determines a tree's light capture, stability, and efficiency of crown growth. The hypothesis that light demand and adult stature of tree species within a community, independently of each other, determine species' architectural traits was tested by comparing 53 Liberian rain forest

  13. ESTIMATION OF STATURE FROM FRAGMENT OF FEMUR (POPLITEAL LENGTH IN BENGALEE POPULATION

    Directory of Open Access Journals (Sweden)

    Tapas Ghosh

    2015-09-01

    Full Text Available Introduction: Of the mathematical methods, regression equations have been successfully used for estimation of stature. Population specific formulae produce more accurate results. The present investigation was designed to estimate stature from fragment of femur obtained from a collection of Bengalee population of the state of West Bengal of India. Materials & Methods: The fragment of the femur (Popliteal length of femur was measured by a vertical length from the point where the distance between external borders of both linea aspera lips becomes 10 mm (it was considered as the lower end of linea aspera, where the two lips diverges below, to the ground where lower surfaces of both the condyles were in contact. Results: The following regression equation was obtained: Stature in feet = 0.127[20.1184 + 1.6890x]. (‘x’ stands for popliteal length of femur in centimeter. Discussion: This would help in identification of unknown skeletal remains, as estimation of stature is an important part in establishing the biological profile of skeletal remains.

  14. Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.

    Science.gov (United States)

    Wulfsberg, E A; Campbell, A B; Lurie, I W; Eanet, K R

    1996-06-28

    The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated.

  15. Members of the Pmp protein family of Chlamydia pneumoniae mediate adhesion to human cells via short repetitive peptide motifs.

    Science.gov (United States)

    Mölleken, Katja; Schmidt, Eleni; Hegemann, Johannes H

    2010-11-01

    Chlamydiae sp. are obligate intracellular pathogens that cause a variety of diseases in humans. Adhesion of the infectious elementary body to the eukaryotic host cell is a pivotal step in chlamydial pathogenesis. Here we describe the characterization of members of the polymorphic membrane protein family (Pmp), the largest protein family (with up to 21 members) unique to Chlamydiaceae. We show that yeast cells displaying Pmp6, Pmp20 or Pmp21 on their surfaces, or beads coated with the recombinant proteins, adhere to human epithelial cells. A hallmark of the Pmp protein family is the presence of multiple repeats of the tetrapeptide motifs FxxN and GGA(I, L, V) and deletion analysis shows that at least two copies of these motifs are needed for adhesion. Importantly, pre-treatment of human cells with recombinant Pmp6, Pmp20 or Pmp21 protein reduces infectivity upon subsequent challenge with Chlamydia pneumoniae and correlates with diminished attachment of Chlamydiae to target cells. Antibodies specific for Pmp21 can neutralize infection in vitro. Finally, a combination of two different Pmp proteins in infection blockage experiments shows additive effects, possibly suggesting similar functions. Our findings imply that Pmp6, Pmp20 and Pmp21 act as adhesins, are vital during infection and thus represent promising vaccine candidates.

  16. Short interspersed nuclear elements (SINEs) are abundant in Solanaceae and have a family-specific impact on gene structure and genome organization.

    Science.gov (United States)

    Seibt, Kathrin M; Wenke, Torsten; Muders, Katja; Truberg, Bernd; Schmidt, Thomas

    2016-05-01

    Short interspersed nuclear elements (SINEs) are highly abundant non-autonomous retrotransposons that are widespread in plants. They are short in size, non-coding, show high sequence diversity, and are therefore mostly not or not correctly annotated in plant genome sequences. Hence, comparative studies on genomic SINE populations are rare. To explore the structural organization and impact of SINEs, we comparatively investigated the genome sequences of the Solanaceae species potato (Solanum tuberosum), tomato (Solanum lycopersicum), wild tomato (Solanum pennellii), and two pepper cultivars (Capsicum annuum). Based on 8.5 Gbp sequence data, we annotated 82 983 SINE copies belonging to 10 families and subfamilies on a base pair level. Solanaceae SINEs are dispersed over all chromosomes with enrichments in distal regions. Depending on the genome assemblies and gene predictions, 30% of all SINE copies are associated with genes, particularly frequent in introns and untranslated regions (UTRs). The close association with genes is family specific. More than 10% of all genes annotated in the Solanaceae species investigated contain at least one SINE insertion, and we found genes harbouring up to 16 SINE copies. We demonstrate the involvement of SINEs in gene and genome evolution including the donation of splice sites, start and stop codons and exons to genes, enlargement of introns and UTRs, generation of tandem-like duplications and transduction of adjacent sequence regions. © 2016 The Authors The Plant Journal © 2016 John Wiley & Sons Ltd.

  17. Important components of a short-term family group programme. From the Danish National Multicenter Schizophrenia Project

    DEFF Research Database (Denmark)

    Buksti, Ann Staerk; Munkner, Runa; Gade, Inger Lise

    2006-01-01

    Clinicians from three psychiatric departments have established family groups as a specific intervention for the relatives of patients with first-episode psychosis. The intervention manual is combining the psychoeducational model with psychodynamic understanding and principles. The aim of this study...... system and other public institutions; 3) the possibility of sharing thoughts, feelings and problems; and 4) dealing with feelings of guilt and shame and the possibility of altering the relationship with the mentally ill relative. Thirty-five relatives of 26 patients filled in the questionnaire consisting...

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

    Directory of Open Access Journals (Sweden)

    Krishan Kewal

    2011-11-01

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

  19. A rare cause of tall stature: Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-12-01

    Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

  20. Feasibility and short-term impact of the "case study in-house group training program for family nursing" at medical facilities.

    Science.gov (United States)

    Yamazaki, Akemi; Tsumura, Akemi; Mine, Hiroko; Kimura, Chisato; Soeda, Akemi; Odatsu, Kazumi; Kiwado, Wataru

    2017-02-01

    The aim of this study was to evaluate the feasibility and short-term impact of case study training in family nursing care targeting midlevel nursing professionals. The intervention group participated in four 90-minute case study training sessions over 6 months, while the control group participated in two 90-minute lectures. Using primary outcome variables as evaluation indexes, we measured the participants' total scores on the Family Importance in Nursing Care Scale and 4 subitems 3 times (before, immediately after and 1 month after training) from May 2014 to March 2015 and then conducted 2-way repeated-measure analysis of variance. We asked the participants and training planners/managers to provide feedback on their evaluation and then performed content analysis on their responses. Although the primary impact due to the different measurement times was significant, no significant difference was observed in the interaction between measurement time and training differences. Of the 4 subitems, significant interactions because of measurement time and training differences were observed only in Fam-B. Feedback data showed all participants felt that their understanding of the importance of family nursing care was strengthened, and participants in the intervention group specifically described how they were utilizing what they had learned from training in practice.

  1. Important components of a short-term family group programme. From the Danish National Multicenter Schizophrenia Project

    DEFF Research Database (Denmark)

    Buksti, Ann Staerk; Munkner, Runa; Gade, Inger Lise;

    2006-01-01

    was to identify the special elements of the programme that were the most important to the relatives. A questionnaire was developed for the participants of the groups in order to establish their satisfaction concerning 1) The actual knowledge received; 2) improvement in ability to cooperate with the therapeutic......Clinicians from three psychiatric departments have established family groups as a specific intervention for the relatives of patients with first-episode psychosis. The intervention manual is combining the psychoeducational model with psychodynamic understanding and principles. The aim of this study...... system and other public institutions; 3) the possibility of sharing thoughts, feelings and problems; and 4) dealing with feelings of guilt and shame and the possibility of altering the relationship with the mentally ill relative. Thirty-five relatives of 26 patients filled in the questionnaire consisting...

  2. Update on statural growth and pubertal development in obese children

    Directory of Open Access Journals (Sweden)

    Chiara De Leonibus

    2012-12-01

    Full Text Available Childhood obesity is a growing and alarming problem, associated with several short-term and long-term metabolic and cardiovascular complications. In addition, it has also been suggested that excess adiposity during childhood influences growth and pubertal development. Several studies have shown that during pre-pubertal years, obese patients present higher growth velocity and that this pre-pubertal advantage tends to gradually decrease during puberty, leading to similar final heights between obese and non-obese children. Excess body weight might also influence pubertal onset, leading to earlier timing of puberty in girls. In addition, obese girls are at increased risk of hyperandrogenism and polycystic ovary syndrome. In boys, a clear evidence does not exist: some studies suggesting an earlier puberty associated with the obesity status, whereas other have found a delayed pubertal onset. Overall, the existing evidence of an association between obesity and modification of growth and pubertal patterns underlines a further reason for fighting the epidemics of childhood obesity.

  3. AB069. Effect of osteogenesis imperfecta on children and their families

    Science.gov (United States)

    Dung, Vu Chi; Armstrong, Kate; Ngoc, Can Thi Bich; Thao, Bui Phuong; Khanh, Nguyen Ngoc; Trang, Nguyen Thu; Hoan, Nguyen Thi; Dat, Nguyen Phu; Munns, Craig

    2015-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder, with features that include increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide from children with few fractures and normal stature to children with multiple fractures, long bone deformity, scoliosis and extreme short stature. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. We aim to evaluate the effect of OI on the well-being of children with the disorder and their families through a family-centered questionnaire. Sixty children with OI from the Vietnam National Hospital of Pediatrics and/or their parent(s), who attended the first annual family support group in 2011, completed a child and parent questionnaire. Sixty patients participated, 26 female and 34 male. The median age was 6.0 years [interquartile range (IQR), 0.25-18 years]. Of these, 36 (60%) had dentinogenesis imperfect and 23 (38.3%) had a scoliosis. The median number of fractures was 6.0 (IQR 0-30) and median number of hospitalizations due to OI was 5.0 (IQR 0-30). Among patients of school age, 9 (15%) could not go to school due to OI. Almost all parents (93.7%) worried about school social communication of the patients. Among these parents, 100% fear of inferiority with friends and 98.3% fear of broken bones. Most parents (76.2%) were significantly concerned about their child’s health. The parents’ themselves reported psychological concerns, with feelings of desperation (58.4%), anxiety (81.7%) and depression (56.7%). OI appeared to have a significant deleterious effect on the life of the patients and their families. These data provide a baseline from which to evaluate the effectiveness of interventions to improve the medical and psychological needs of this cohort and their families.

  4. Familial Albright`s hereditary osteodystrophy with hypoparathyroidism: Normal structural G{sub s}{alpha} gene

    Energy Technology Data Exchange (ETDEWEB)

    Shapira, H.; Friedman, E.; Farfel, Z. [Tel Aviv Univ. (Israel)] [and others

    1996-04-01

    Albright`s hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including short stature, obesity, round face, and brachydactyly. AHO appears in patients with pseudohypoparathyroidism (PHP) who have resistance to PTH and in their eumetabolic family members who have pseudohypoparathyroidism (PPHP). The differential diagnosis of AHO in families without PHP includes brachydactyly E, whose existence as a distinct entity has been questioned. We studied a patient with familial AHO who presented with hypocalcemia. To our surprise, PTH levels were low, and the response to PTH administration was normal. This is the first case of familial AHO with hypoparathyroidism. The proband`s family included 22 affected subjects spanning 3 generations, who had variable degrees of AHO manifestations, with an autosomal dominant inheritance trait. The metacarpophalangeal pattern profile was typical of that of PHP-PPHP. As deficient activity and inactivating mutations of G{sub s}{alpha} were described in PHP as well as in PPHP, we measured the biological activity of G{sub s} in family members, which was normal. To exclude subtle abnormalities in the G{sub s}{alpha} gene, we sequenced the entire coding region of G{alpha} in the propositus, which was normal. We conclude that hypocalcemia should be adequately evaluated even in the presence of familial AHO, and that familial AHO can occur with a normal coding structural Ga gene. Identification of the molecular defect in familial AHO without PHP will shed light on the pathogenesis of AHO in general. 20 refs., 3 figs.

  5. EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia

    Institute of Scientific and Technical Information of China (English)

    LIU Feng-xia; LI Yan-xiang; ZHANG Xu-de; REN Cui-ai; HUANG Shang-zhi; YU Meng-xue

    2013-01-01

    Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity.In the majority of clinically defined.cases,mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).Methods Five patients were included in the study.Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members.Results We have identified a novel mutation in axon 14 of COMPgene in the family.Conclusions This mutation produced a severe MED phenotype with marked short stature,early onset osteoarthritis,and remarkable radiographic changes.Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.

  6. Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

    Science.gov (United States)

    Caetano, Lílian A; Jorge, Alexander A L; Malaquias, Alexsandra C; Trarbach, Ericka B; Queiroz, Márcia S; Nery, Márcia; Teles, Milena G

    2012-11-01

    Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, precise diagnosis of MODY is important for determining management and prognosis. We report two heterozygous GCK mutations identified during the investigation of short stature. Case 1: a prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and negative β-cell antibodies. His father and two siblings also had slightly elevated blood glucose levels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); β-cell antibodies were negative. His father, a paternal aunt, and the paternal grandmother also had slightly elevated glycemia, whereas his mother had normal glycemia. A GCK heterozygous missense mutation, p.Glu221Lys, was identified in the index patient and in four family members. All affected patients had mild elevated glycemia. Individuals with normal glycemia did not harbor mutations. GCK mutation screening should be considered in patients with chronic mild early-onset hyperglycemia, family history of impaired glycemia, and negative β-cell antibodies.

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

    Directory of Open Access Journals (Sweden)

    Amit Gupta

    2014-01-01

    Full Text Available 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.

  8. Secular Changes of Stature in Rural Children and Adolescents in China, 1985-2010

    Institute of Scientific and Technical Information of China (English)

    CHEN Tian Jiao; JI Cheng Ye

    2014-01-01

    Objective To analyze and assess secular change in stature in rural children and adolescents in China from 1985 to 2010. Methods Data were obtained from the 6 rounds of the Chinese National Survey on Student’s Constitution and Health. The subjects enrolled in the study were children and adolescents aged 7-18 years in rural areas of provincial capitals. Results An overall positive secular trend in stature occurred in rural areas of provincial capitals in China from 1985 to 2010. The overall average increase rates were 3.1 and 2.4 cm/decade for boys and girls, respectively. The total body height increases for grown up boys and girls were 3.6 and 2.3 cm and the increase rates were 1.4 and 0.9 cm/decade, respectively. There were differences in body height increase among eastern, central and western regions. The average body height of the children or adolescents in eastern region was highest, followed by central region and western region. The overall increase rates in central region were highest among the three regions. The difference between eastern/central region and western region was obvious. Conclusion Positive secular trend in stature of children or adolescents has occurred in rural area of China, and rural boys and girls showed a great potential for continuous growth. More attention should be paid to the differences in children’s body height between western region and eastern/central region.

  9. Estimation of Stature from Hand Measurements and Handprints in a Sample of Saudi Population

    Directory of Open Access Journals (Sweden)

    Maryna Kornieieva

    2016-06-01

    Full Text Available Stature estimation is a commonly used method in forensic identification analysis. The tracks and remnants available at crime scene or catastrophes can give extensive information concerning the biological profiles of unknown persons. However, the investigator should take into account the constitutional peculiarities of the population where the evidence was found due to the high specificity of such data. The present work aimed at studying the ethnic peculiarities of the Saudi Arabian population and to estimate stature using the measurements of hands and handprints. A total of 200 native Saudi subjects of both genders within the age group of 17 to 26 years were included in the study. The height of each participant was measured and correlated with hand length, palm  length, and the hand breadth measured on both sides. Descriptive statistical analysis, paired samples T-test, Pearson correlation analysis, and regression analysis were performed. Obtained regression equations have a 1-4 cm deviation when used for the stature estimation in the population from which the data have been obtained. The accurate estimation rate of the formulae is >95%.

  10. Endogenous, tissue-specific short interfering RNAs silence the chalcone synthase gene family in glycine max seed coats.

    Science.gov (United States)

    Tuteja, Jigyasa H; Zabala, Gracia; Varala, Kranthi; Hudson, Matthew; Vodkin, Lila O

    2009-10-01

    Two dominant alleles of the I locus in Glycine max silence nine chalcone synthase (CHS) genes to inhibit function of the flavonoid pathway in the seed coat. We describe here the intricacies of this naturally occurring silencing mechanism based on results from small RNA gel blots and high-throughput sequencing of small RNA populations. The two dominant alleles of the I locus encompass a 27-kb region containing two perfectly repeated and inverted clusters of three chalcone synthase genes (CHS1, CHS3, and CHS4). This structure silences the expression of all CHS genes, including CHS7 and CHS8, located on other chromosomes. The CHS short interfering RNAs (siRNAs) sequenced support a mechanism by which RNAs transcribed from the CHS inverted repeat form aberrant double-stranded RNAs that become substrates for dicer-like ribonuclease. The resulting primary siRNAs become guides that target the mRNAs of the nonlinked, highly expressed CHS7 and CHS8 genes, followed by subsequent amplification of CHS7 and CHS8 secondary siRNAs by RNA-dependent RNA polymerase. Most remarkably, this silencing mechanism occurs only in one tissue, the seed coat, as shown by the lack of CHS siRNAs in cotyledons and vegetative tissues. Thus, production of the trigger double-stranded RNA that initiates the process occurs in a specific tissue and represents an example of naturally occurring inhibition of a metabolic pathway by siRNAs in one tissue while allowing expression of the pathway and synthesis of valuable secondary metabolites in all other organs/tissues of the plant.

  11. Estimation of stature from arm span, arm length and tibial length among Bengalee children aged 3-11 years

    Directory of Open Access Journals (Sweden)

    B. Dorjee

    2016-05-01

    Full Text Available Background: Estimation of human stature has significant bearings on assessment of growth, nutritional status and personal identification. Often the prediction of stature from bone remains or body parts of children is complicated by the ongoing growth. Despite these disadvantages, a situation may arise where estimation of a child’s stature becomes important. In such a situation equations derived for adults cannot be applicable. Materials and Methods: The present cross-sectional study was conducted among 240 children (boys: 116; girls: 124 aged between 3 to 11 years and belonging to the Bengali Hindu Caste Population from Naxalbari, District Darjeeling, West Bengal, India. Standard procedures were followed to record stature, arm span, arm length and tibial length. Intra- and inter- observer technical errors of the measurement (TEM were calculated. One way analysis of variance (ANOVA, correlation, linear regression and stepwise regression were used to analyze the data. Result: The boys had higher mean age, mean stature, mean arm span, mean arm length and tibial length than girls. However, using ANOVA, the sex difference were not significant (p>0.05. Stature was observed to be positively and significantly correlated with all the anthropometric variables among both sexes. When stepwise regression was used, it was observed that the correlation coefficient (R and the coefficient of determination (R2 increased with inclusion of arm length and tibial length with arm span as the predictor. The addition of age as a variable further increased the predictive accuracy of the model. Predictive accuracies of the equations were higher among girls than boys. Conclusion: The present study has observed strong associations of stature with age, arm span, arm length and tibia length. The strength of prediction in general increased with the increasing number of parameters and from using linear to stepwise multiple regressions. Addition of age as a variable influenced

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

    Science.gov (United States)

    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. Stature Estimation Based on the Length of Tibia and Fibula Measured by Digital X-ray in Chinese Han Teenagers

    Institute of Scientific and Technical Information of China (English)

    WANG Yu-zhuo; HUANG Yun; ZHOU Xiao-rong; DENG Zhen-hua

    2012-01-01

    Objective To derive regression formulae for stature estimation using forensic radiography from the tibia and fibula of Chinese Han teenagers in Sichuan Province. Methods To construct equations, measurements were conducted on the training sample (412 adults, 201 males and 211 females). The whole length of the fibula and four measurements of tibia were determined using CR radiography, rectified through theoretical magnification. The regression formulae were relatively constructed to the real stature measured in an erect position. Through using the testing sample (40 adults) for the regression formulae, the reliability of the regression formulae was assessed. Results The range of correlation coefficients of four measurements for tibia was 0.880-0.895 in the sex-unknown group, 0.869-0.893 in the male, and 0.845-0.855 in the female. The five measurements were found to be better correlated with stature in the male than in the female. Conclusion The digital X-ray of the tibia and fibula for stature estimation is proved to be effective in forensic individual identification; therefore, these equations can be of great assistance to the stature estimation of the contemporary Chinese Han teenagers.Objective To derive regression formulae for stature estimation using forensic radiography from the tibia and fibula of Chinese Han teenagers in Sichuan Province.Methods To construct equations,measurements were conducted on the training sample (412 adults,201 males and 211 females).The whole length of the fibula and four measurements of tibia were determined using CR radiography,rectified through theoretical magnification.The regression formulae were relatively constructed to the real stature measured in an erect position.Through using the testing sample (40 adults) for the regression formulae,the reliability of the regression formulae was assessed.Results The range of correlation coefficients of four measurements for tibia was 0.880-0.895 in the sex-unknown group,0.869-0.893 in the

  14. Ellis-Van Creveld Syndrome: Report of a Family with 3 Cases

    Directory of Open Access Journals (Sweden)

    Mahyar Mohammadi Fard

    2009-01-01

    Full Text Available "nEllis-van Creveld Syndrome (EVC is a rare inherited genetic disorder characterized by polydactyly (extra fingers and toes, dwarfism, and abnormalities in the heart, teeth, nails, and hair. The incidence of EVC is extremely rare in the general population. It is estimated that EVC affects one in 60,000 live births in the general United States population and are much lower in European countries, with one child born with EVC in every 150,000 live births. "nHerein we present three cases of EVC syndrome in one family (An 8-year-old boy and his sisters, two 11 and 6-year-old girls who were admitted to Birjand Imam Reza hospital complaining of short stature. The clinical findings in the physical examination are explained and the role of plain X-rays, echocardiography and cardiac angiography in the diagnosis and management of the anomalies are discussed in these rare 3 cases.  

  15. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

    2003-01-01

    Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene....... The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls....

  16. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

    Indian Academy of Sciences (India)

    PRIYANKA SRIVASTAVA; MONI TUTEJA; ASHWIN DALAL; KAUSIK MANDAL; SHUBHA R. PHADKE

    2016-12-01

    Acromesomelic dysplasia, type Maroteaux is a disorder characterized by disproportionate short stature predominantly affecting the middle and distal segments of the upper and lower limbs. It is an autosomal recessive disorder due to mutation in NPR2 gene which impairs skeletal growth. To screen the mutations in the gene NPR2, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected individuals of four families and sequenced. Four homozygous mutations in four different families were identified. These include three novel mutations including a deletion frameshift mutation (p.Cys586Ter), one nonsense mutation (p.Arg479Ter), one missense mutation (p.Val187Asp) and one reported missense mutation (p.Tyr338Cys). The study describes phenotypes of Indian patients and expands the mutation spectrum of the disorder.

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

    Science.gov (United States)

    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.

  18. High stature and body mass might affect the occurrence of Schmorl’s nodes

    Directory of Open Access Journals (Sweden)

    Trzciński Dawid

    2017-09-01

    Full Text Available Schmorl’s nodes are vertical herniation of intervertebral discs into the body of neighbouring vertebral endplate. Notwithstanding extensive studies, no consensus has been reached in the subject of their possible etiology. It is hypothesized that physical stress, trauma and high axial loading are the key factors in the occurrence of this pathology. The main objective of the current work is to reevaluate the relationship between stature and body mass and Schmorl’s nodes. For this purpose, skeletal samples from Lithuania (44 males and 19 females and Poland (97 males and 60 females were used. The study confirmed that Schmorl’s nodes are age-independent, and more frequent in males (12.63% on the superior and 19.32% on the inferior surface of vertebrae than in females (6.23% and 12.29% respectively. Obtained results also suggest that high stature (e.g. Spearmann correlation for superior: R=0.20 p=0.017, and inferior: R=0.31 p=0.000 surface of vertebrae and body mass (R=0.25, p=0.002 and R=0.32, p<0.001, respectively are factors that increase the risk of Schmorl’s nodes. Authors hypothesize that the afore-mentioned body size traits alter loadings acting on intervertebral discs, and rigidity of the spine.

  19. Estimation of stature from anthropometry of hand: an interesting autopsy based study in Madhya Pradesh, India

    Directory of Open Access Journals (Sweden)

    Rajesh Ban Goswami

    2016-06-01

    Results: The mean age of the male and female study subjects was38.472+/-13.28 years and 34.728+/-10.33 years respectively. Male to female ratio was 1:1. Mean stature in male subjects was 163.5+/-5.21 cm. Mean stature in female subjects was 155.69+/-10.12 cm. In male study subjects, mean hand length on right side was more than mean hand length on left side. In female study subjects, mean hand length on right side was more than on left side. In male study subjects, hand breadth (HB on right side was more than on left side. Average HB in male subjects was 8.39+/-0.203 cm. In female study subjects, hand breadth on right side was more than on left side. Conclusions: The findings of the present study can be used as baseline information for other population based studies in the study area. [Int J Res Med Sci 2016; 4(6.000: 1873-1878

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

    Directory of Open Access Journals (Sweden)

    T. Nataraja Moorthy

    2015-05-01

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

  1. The centre for healthy weights--shapedown BC: a family-centered, multidisciplinary program that reduces weight gain in obese children over the short-term.

    Science.gov (United States)

    Panagiotopoulos, Constadina; Ronsley, Rebecca; Al-Dubayee, Mohammed; Brant, Rollin; Kuzeljevic, Boris; Rurak, Erin; Cristall, Arlene; Marks, Glynis; Sneddon, Penny; Hinchliffe, Mary; Chanoine, Jean-Pierre; Mâsse, Louise C

    2011-12-01

    The objective was to conduct a program evaluation of the Centre for Healthy Weights-Shapedown BC (CHW-SB), a family-centered, multidisciplinary program for obese children, by assessing the change in weight trajectories from program intake to completion. Secondary outcomes included changes in clinical, biochemical and psychological parameters, and in physical activity (PA) levels. The CHW-SB program was evaluated over 10 weeks. Data collection included anthropometric, metabolic, PA and psychological measures. Longitudinal mixed effects regression was performed to evaluate weight change from Phase 1 (before program on waitlist) to Phase 2 (during program). 238 children weight trajectory in children following program entry. Participants experienced an average .89% monthly increase before program entry, compared to a .37% monthly decline afterwards, a drop of 1.26% (p < 0.0001, 95%CI 1.08 to 1.44). zBMI (2.26 ± 0.33 to 2.20 ± 0.36, p < 0.001), waist circumference (99 ± 15.7 to 97 ± 16 cm, p < 0.0001) and fasting insulin (137 ± 94.8 to 121 ± 83.4 pmol/L, p < 0.001) also decreased in participants who attended the final visit. Significant improvements were seen in all measures of PA, self-concept, and anxiety. CHW-SB, a government-funded program, is the first obesity-treatment program to be evaluated in Canada. While short-term evaluation revealed significant improvements in adiposity, PA, and psychological measures, the lack of full follow-up is a limitation in interpreting the clinical effectiveness of this program, as drop-out may be associated with lack of success in meeting program goals. These data also emphasize the need for ongoing evaluation to assess the long-term implications of this unique program and ultimately optimize utilization of governmental resources.

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

    OpenAIRE

    McPhee Ian; Day Gregory A; Batch Jenny; Tomlinson Francis H

    2007-01-01

    Abstract Study design and aim This was a longitudinal chart review of a diverse group (cohort) of patients undergoing HGH (Human Growth Hormone) treatment. Clinical and radiological examinations were performed with the aim to identify the presence and progression of scoliosis. Methods and cohort 185 patients were recruited and a database incorporating the age at commencement, dose and frequency of growth hormone treatment and growth charts was compiled from their Medical Records. The presence...

  3. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

    Science.gov (United States)

    Peng, Hao; Zhang, Yuhui; Long, Zhigao; Zhao, Ding; Guo, Zhenxin; Xue, Jinjie; Xie, Zhiguo; Xiong, Zhimin; Xu, Xiaojuan; Su, Wei; Wang, Bing; Xia, Kun; Hu, Zhengmao

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  4. Validity and reliability of short forms of parental-caregiver perception and family impact scale in a Telugu speaking population of India

    National Research Council Canada - National Science Library

    Kumar, Santhosh; Kroon, Jeroen; Lalloo, Ratilal; Johnson, Newell W

    2016-01-01

    Parental-Caregiver Perception Questionnaire (P-CPQ) and Family Impact Scale (FIS) are commonly used measures to evaluate the parent's perception of the impact of children's oral health on quality of life and family respectively...

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

    Science.gov (United States)

    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…

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

    Energy Technology Data Exchange (ETDEWEB)

    Feldman, G.F.; Muenke, M.; Robin, N.H.; Zackai, E.H. [Children`s Hospital of Philadelphia, PA (United States)]|[Univ. of Pennsylvania, Philadelphia, PA (United States); Gasser, D.L.; Bailey, C. [Univ. of Pennsylvania, Philadelphia, PA (United States); Siegel-Bartelt, J. [Hospital for Sick Children, Toronto (Canada); Brueton, L.A.; Robertson, E.; Thompson, E.M.

    1995-04-01

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

  7. The Centre for Healthy Weights—Shapedown BC: A Family-Centered, Multidisciplinary Program that Reduces Weight Gain in Obese Children over the Short-Term

    Directory of Open Access Journals (Sweden)

    Louise C. Mâsse

    2011-12-01

    Full Text Available The objective was to conduct a program evaluation of the Centre for Healthy Weights—Shapedown BC (CHW-SB, a family-centered, multidisciplinary program for obese children, by assessing the change in weight trajectories from program intake to completion. Secondary outcomes included changes in clinical, biochemical and psychological parameters, and in physical activity (PA levels. The CHW-SB program was evaluated over 10 weeks. Data collection included anthropometric, metabolic, PA and psychological measures. Longitudinal mixed effects regression was performed to evaluate weight change from Phase 1 (before program on waitlist to Phase 2 (during program. 238 children < 18 years of age were referred to the program of which 119 were eligible for participation. There was a significant decrease in weight trajectory in children following program entry. Participants experienced an average .89% monthly increase before program entry, compared to a .37% monthly decline afterwards, a drop of 1.26% (p < 0.0001, 95%CI 1.08 to 1.44. zBMI (2.26 ± 0.33 to 2.20 ± 0.36, p < 0.001, waist circumference (99 ± 15.7 to 97 ± 16 cm, p < 0.0001 and fasting insulin (137 ± 94.8 to 121 ± 83.4 pmol/L, < 0.001 also decreased in participants who attended the final visit. Significant improvements were seen in all measures of PA, self-concept, and anxiety. CHW-SB, a government-funded program, is the first obesity-treatment program to be evaluated in Canada. While short-term evaluation revealed significant improvements in adiposity, PA, and psychological measures, the lack of full follow-up is a limitation in interpreting the clinical effectiveness of this program, as drop-out may be associated with lack of success in meeting program goals. These data also emphasize the need for ongoing evaluation to assess the long-term implications of this unique program and ultimately optimize utilization of governmental resources.

  8. [Measurements of location of body fat distribution: an assessment of colinearity with body mass, adiposity and stature in female adolescents].

    Science.gov (United States)

    Pereira, Patrícia Feliciano; Serrano, Hiara Miguel Stanciola; Carvalho, Gisele Queiroz; Ribeiro, Sônia Machado Rocha; Peluzio, Maria do Carmo Gouveia; Franceschini, Sylvia do Carmo Castro; Priore, Silvia Eloiza

    2015-01-01

    To verify the correlation between body fat location measurements with the body mass index (BMI), percentage of body fat (%BF) and stature, according to the nutritional status in female adolescents. A controlled cross sectional study was carried out with 113 adolescents (G1: 38 eutrophic, but with high body fat level, G2: 40 eutrophic and G3: 35 overweight) from public schools in Viçosa-MG, Brazil. The following measures have been assessed: weight, stature, waist circumference (WC), umbilical circumference (UC), hip circumference (HC), thigh circumference, waist-to-hip ratio (WHR), waist-to-stature ratio (WSR), waist-to-thigh ratio (WTR), conicity index (CI), sagittal abdominal diameter (SAD), coronal diameter (CD), central skinfolds (CS) and peripheral (PS). The %BF was assessed by tetrapolar electric bioimpedance. The increase of central fat, represented by WC, UC, WSR, SAD, CD and CS, and the increase of peripheral fat indicated by HC and thigh were proportional to the increase of BMI and %BF. WC and especially the UC showed the strongest correlations with adiposity. Weak correlation between WHR, WTR, CI and CS/PS with adiposity were observed. The stature showed correlation with almost all the fat location measures, being regular or weak with waist. The results indicate colinearity between body mass and total adiposity with central and peripheral adipose tissue. We recommend the use of UC for assessing nutritional status of adolescents, because it showed the highest ability to predict adiposity in each group, and also presented regular or weak correlation with stature. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  9. Casuística de pacientes com queixa principal de alta estatura atendidos em serviço de referência em Salvador, Bahia Analysis of patients with chief complaint of tall stature seen at a referral hospital in Salvador, Bahia, Brazil

    Directory of Open Access Journals (Sweden)

    Crésio Alves

    2008-12-01

    fulfilled the diagnostic criteria for tall stature (height Z score for age-ZH/A>2. Seven (58% patients were males. The age at the first evaluation ranged from 3 years and 4 months to 13 years and 3 months. The ZH/A ranged from 2.18 to 5.99 and the Z score for target height ranged from -1.10 to 1.24. Regarding the causes of tall stature: seven patients (58% had familiar causes of tall stature, two (17% had idiopathic tall stature (ITS, and three (25% of them presented a pathologic cause (Marfan's syndrome in one and pituitary adenomas in two. In the other four patients, ZH/A varied from 1.86 to 1.98 and did not fulfill the diagnostic criteria for tall stature. In this group, the diagnoses were: idiopathic in two, familial in one and Weaver's syndrome in another patient. CONCLUSIONS: The distribution of etiologies of patients evaluated with the chief complaint of tall stature corresponds to the literature, in which familial cases constitute the primary cause. Although tall stature is not a frequent complaint, the investigation of these patients should be performed in a thorough way in order to early diagnose secondary causes, which constituted 25% of our study cases.

  10. A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability.

    Science.gov (United States)

    Hategan, Lidia; Csányi, Beáta; Ördög, Balázs; Kákonyi, Kornél; Tringer, Annamária; Kiss, Orsolya; Orosz, Andrea; Sághy, László; Nagy, István; Hegedűs, Zoltán; Rudas, László; Széll, Márta; Varró, András; Forster, Tamás; Sepp, Róbert

    2017-08-15

    The most important molecular determinant of heart rate regulation in sino-atrial pacemaker cells includes hyperpolarization-activated, cyclic nucleotide-gated ion channels, the major isoform of which is encoded by the HCN4 gene. Mutations affecting the HCN4 gene are associated primarily with sick sinus syndrome. A novel c.1737+1 G>T 'splice-site' HCN4 mutation was identified in a large family with familial bradycardia which co-segregated with the disease providing a two-point LOD score of 4.87. Twelve out of the 22 investigated family members [4 males, 8 females average age 36 (SD 6) years] were considered as clinically affected (heart rateheart rates [62 (SD 8) vs. 73 (SD 8) bpm, p=0.0168) were significantly lower in carriers on 24-hour Holter recordings. Under maximum exercise test carriers achieved significantly lower heart rates than non-carrier family members, and percent heart rate reserve and percent corrected heart rate reserve were significantly lower in carriers. Applying rigorous criteria for chronotropic incompetence a higher number of carriers exhibited chronotropic incompetence. Parameters, characterizing short-term variability of heart rate (i.e. rMSSD and pNN50%) were increased in carrier family members, even after normalization for heart rate, in the 24-hour ECG recordings with the same relative increase in 5-minute recordings. The identified novel 'splice site' HCN4 gene mutation, c.1737+1 G>T, causes familial bradycardia and leads to reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability in the mutation carriers. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Effects of Short-Term Experimental Insulin Resistance and Family History of Diabetes on Pancreatic β-Cell Function in Nondiabetic Individuals

    National Research Council Canada - National Science Library

    Rasouli, Neda; Hale, Terri; Kahn, Steven E; Spencer, Horace J; Elbein, Steven C

    2005-01-01

    ...: Glucose tolerance, insulin sensitivity (SI), and insulin response to iv glucose (AIRG) were compared in nondiabetic individuals with and without a family history of diabetes before and after nicotinic acid (NA) treatment. Setting...

  12. Transgenic Wuzhishan minipigs designed to express a dominant-negative porcine growth hormone receptor display small stature and a perturbed insulin/IGF-1 pathway.

    Science.gov (United States)

    Li, Feida; Li, Yong; Liu, Huan; Zhang, Xingju; Liu, Chuxin; Tian, Kai; Bolund, Lars; Dou, Hongwei; Yang, Wenxian; Yang, Huanming; Staunstrup, Nicklas Heine; Du, Yutao

    2015-12-01

    Growth hormone (GH) is an anabolic mitogen with widespread influence on cellular growth and differentiation as well as on glucose and lipid metabolism. GH binding to the growth hormone receptor (GHR) on hepatocytes prompts expression of insulin growth factor I (IGF-1) involved in nutritionally induced compensatory hyperplasia of pancreatic β-cell islets and insulin release. A prolonged hyperactivity of the IGF-1/insulin axis in the face of insulinotropic nutrition, on the other hand, can lead to collapse of the pancreatic islets and glucose intolerance. Individuals with Laron syndrome carry mutations in the GHR gene resulting in severe congenital IGF-1 deficiency and elevated GH serum levels leading to short stature as well as perturbed lipid and glucose metabolism. However, these individuals enjoy a reduced prevalence of acne, cancer and possibly diabetes. Minipigs have become important biomedical models for human conditions due to similarities in organ anatomy, physiology, and metabolism relative to humans. The purpose of this study was to generate transgenic Wuzhishan minipigs by handmade cloning with impaired systemic GHR activity and assess their growth profile and glucose metabolism. Transgenic minipigs featuring overexpression of a dominant-negative porcine GHR (GHR(dm)) presented postnatal growth retardation and proportionate dwarfism. Molecular changes included elevated GH serum levels and mild hyperglycemia. We believe that this model may prove valuable in the study of GH functions in relation to cancer, diabetes and longevity.

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

    Science.gov (United States)

    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.

  14. Race- and sex-specific reference data for triceps and subscapular skinfolds and weight/stature.

    Science.gov (United States)

    Cronk, C E; Roche, A F

    1982-02-01

    The best clinical indicators of percentage body fat on statistical grounds are triceps skinfold thickness in females aged 6 to 50.0 yr and boys 6 to 8 yr, and weight/stature 2 (W/S2) in men. The most valid simple clinical estimators of total body fat are W/S2 in females aged 6 to 50.9 yr and adult males 19 yr and older, and subscapular skinfold thickness in boys 6 to 18 yr. This report presents race- and sex-specific reference data for these three measures based on the First Health and Nutrition Examination Survey for individuals 6 to 50.9 yr of age. Data for Blacks and whites are presented separately because of the large differences in their distributions on these measures. When compared to data from the Health Examination Survey, 1960 to 1962, the present data show evidence of a secular trend toward higher values for triceps and subscapular skinfold thickness in the upper percentiles in adults. The tables presented can be used clinically, with the specified reservations to indicate percentage body fat or total body fat for individuals.

  15. DIGIT LENGTH DISPLAYS A SIGNIFICANT FRACTION IN STATURE ESTIMATION: A STUDY FROM COASTAL REGION OF SOUTH INDIA

    Directory of Open Access Journals (Sweden)

    Gayathri Matheswaran

    2014-06-01

    Full Text Available Relationship that exists between different part of the body and height had been of great interest to anthropologists, forensic and medical scientists for many years. This is because of the increase in the number of catastrophic events causing mass deaths from natural or manmade errors. Such disasters like flooding, tsunamis, earthquakes, plane crashes, train crashes , terrorist attacks usually requires the identification of victims from fragmentary and dismembered human remains. In present paper, study on stature estimation from digit length has been reported. In the present study, 200individuals (96 males and 104 females belonging to age group of 18 to 25years having no disease or deformity were examined anthropometrically in respect to their height and digit lengths (2D, 3D, 4D, 5D have been measured. The regression equations have been drawn from the data collected. It has been observed that stature can be estimated from the digit lengths

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

    Science.gov (United States)

    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.

  17. Relationship of lifestyle and body stature growth with the development of myopia and axial length elongation in Taiwanese elementary school children.

    Science.gov (United States)

    Huang, Chung-Ying; Hou, Chiun-Ho; Lin, Ken-Kuo; Lee, Jiahn-Shing; Yang, Meng-Ling

    2014-08-01

    The development of myopia and growth of the eye, occur at a time when body stature is increasing. To investigate the relationship of lifestyle and body growth with axial elongation and myopia development among schoolchildren aged 7 to 9 years. Prospective study. Children in elementary schools without serious eye disorders were invited to participate. We measured cycloplegic refraction, corneal curvature, intraocular pressure, axial length, body height, and weight. Questionnaires about the children's daily lifestyles, family members' myopia and parents' socio-demographic status were completed. The children were followed up every 6 months in a 3-year period. Bivariate correlations, simple and multiple regression. Eighty-eight children participated in this study. Forty-eight were myopic at the beginning of the study, and their myopia correlated with longer axial length and parental myopia (P = 0.015, 0.012). Sixty-five children (74%) completed the study, and the rates of change per year were -0.43 ± 0.58 (mean + standard deviation) diopters in spherical equivalence, 0.32 ± 0.25 mm in axial length (AL), 5.73 ± 2.71 cm in body height, and 3.84 ± 2.23 kg in weight. The axial length change was positively correlated with the height change (P children aged 7-9 years. Genetic factors such as parental myopia and body height had a possible influence on myopia development, and the environment factor as near work intensity was related to myopia progression.

  18. MANAGEMENT OF ENDOCRINE DISEASE: Growth and growth hormone therapy in short children born preterm.

    Science.gov (United States)

    Boguszewski, Margaret Cristina da Silva; Cardoso-Demartini, Adriane de Andre

    2017-03-01

    Approximately 15 million babies are born preterm across the world every year, with less than 37 completed weeks of gestation. Survival rates increased during the last decades with the improvement of neonatal care. With premature birth, babies are deprived of the intense intrauterine growth phase, and postnatal growth failure might occur. Some children born prematurely will remain short at later ages and adult life. The risk of short stature increases if the child is also born small for gestational age. In this review, the effects of being born preterm on childhood growth and adult height and the hormonal abnormalities possibly associated with growth restriction are discussed, followed by a review of current information on growth hormone treatment for those who remain with short stature during infancy and childhood.

  19. Study on the primary characteristics of identifi cation: estimation of stature from palm length among the native Guajarati population

    Directory of Open Access Journals (Sweden)

    Aneri Choksi

    2014-07-01

    Full Text Available Criminal investigation always involves the identification of individuals involved in any incidence that is under question. Identification of individual is based on the available physical evidences. The most conventional method of identification of individuals is based on the fingerprints. There are certain instances wherein the identity of individual would be done based on certain anthropometric data such as measurements of various body parts although the complete identification is possible with fingerprints, DNA and patterns still the primary characteristic of identification such as stature and sex can be determined. In this study, an attempt has been made to establish the possible correlation between the palm length with the stature of individual. To get scrupulous results, the study has been done on the young adult population in the age range of 21-25 years. A total number of 500 subjects were considered for the study that includes 200 boys and 300 girls. Significant results were obtained. It was possible to deduce the correlation coefficient and multiplication factor for estimation of stature from palm length. The multiplication factor so deduced has been applied and regression analysis was done and was found to be significant and reliable .

  20. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

    Directory of Open Access Journals (Sweden)

    Weigel Corina

    2005-04-01

    Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

  1. Short Adolescents Born Small for Gestational Age : Gonadal and thyroid function, bone mineral density, quality of life and adult height: The effects of growth hormone and additional postponement of puberty

    NARCIS (Netherlands)

    A.J. Lem (Annemieke)

    2012-01-01

    textabstractFrom 1991, our research group and others have been investigating children with short stature who were born small for gestational age (SGA), both before and during treatment with biosynthetic growth hormone (GH). In 2005, GH treatment was licensed for short SGA children in the Netherlands

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

    Science.gov (United States)

    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. Copyright © 2013. Published by Elsevier B.V.

  3. SHORT RIB POLYDACTYLY SYNDROME

    Directory of Open Access Journals (Sweden)

    Z Moinfar

    2007-09-01

    Full Text Available Short rib polydactyly syndrome (SRPS is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

  4. Hereditary vitamin D rickets: a case series in a family.

    Science.gov (United States)

    Surender, Kumar; Kochar, I P S; Ahmad, Ayesha; Kapoor, Meenal

    2014-11-01

    Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.

  5. Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran

    Directory of Open Access Journals (Sweden)

    F. E. Mahjoub

    2016-01-01

    Full Text Available Introduction. Intractable diarrhea of infancy (IDI includes several types of early onset diarrhea; one of the rare etiologies is trichohepatoenteric (THE syndrome, also known as syndromic diarrhea (SD which was primarily described by Stankler et al. Hereby we report a family with several affected members which to our knowledge is the first case report from Iran. Report of Cases. A three-year-old boy referred with short stature, poor weight gain, and intermittent steatotic diarrhea to our center. He was born to healthy, relative parents (cousins. He did not gain any weight after four months of age and began having intermittent steatotic diarrhea, abdominal distension, and fever. He was hospitalized several times. Two other children in the family also showed somewhat similar symptoms. Two sweat tests were negative for cystic fibrosis. Workup for Celiac disease was performed several times which was negative; however, gluten-free diet was tried several times which was not effective. Workup for Hirschsprung’s disease was performed but colon was ganglionic. Evidence of liver involvement was approved by elevated liver enzymes and coarse echo of liver on sonography. Discussion. Trichoenterohepatic syndrome should be put in mind in cases of intractable diarrhea presenting in a family with several affected members. Early diagnosis would save patients from unnecessary workups.

  6. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Qing-lin [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Xu, Jia [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Zhang, Zeng [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); He, Jin-wei [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Lu, Lian-song [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Fu, Wen-zhen [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China)

    2012-07-13

    Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

  7. Retroposition of the AFC family of SINEs (short interspersed repetitive elements) before and during the adaptive radiation of cichlid fishes in Lake Malawi and related inferences about phylogeny.

    Science.gov (United States)

    Takahashi, K; Nishida, M; Yuma, M; Okada, N

    2001-01-01

    Lake Malawi is home to more than 450 species of endemic cichlids, which provide a spectacular example of adaptive radiation. To clarify the phylogenetic relationships among these fish, we examined the presence and absence of SINEs (short interspersed repetitive elements) at orthologous loci. We identified six loci at which a SINE sequence had apparently been specifically inserted by retroposition in the common ancestor of all the investigated species of endemic cichlids in Lake Malawi. At another locus, unique sharing of a SINE sequence was evident among all the investigated species of endemic non-Mbuna cichlids with the exception of Rhamphochromis sp. The relationships were in good agreement with those deduced in previous studies with various different markers, demonstrating that the SINE method is useful for the elucidation of phylogenetic relationships among cichlids in Lake Malawi. We also characterized a locus that exhibited transspecies polymorphism with respect to the presence or absence of the SINE sequence among non-Mbuna species. This result suggests that incomplete lineage sorting and/or interspecific hybridization might have occurred or be occurring among the species in this group, which might potentially cause misinterpretation of phylogenetic data, in particular when a single-locus marker, such as a sequence in the mitochondrial DNA, is used for analysis.

  8. A statistical human rib cage geometry model accounting for variations by age, sex, stature and body mass index.

    Science.gov (United States)

    Shi, Xiangnan; Cao, Libo; Reed, Matthew P; Rupp, Jonathan D; Hoff, Carrie N; Hu, Jingwen

    2014-07-18

    In this study, we developed a statistical rib cage geometry model accounting for variations by age, sex, stature and body mass index (BMI). Thorax CT scans were obtained from 89 subjects approximately evenly distributed among 8 age groups and both sexes. Threshold-based CT image segmentation was performed to extract the rib geometries, and a total of 464 landmarks on the left side of each subject׳s ribcage were collected to describe the size and shape of the rib cage as well as the cross-sectional geometry of each rib. Principal component analysis and multivariate regression analysis were conducted to predict rib cage geometry as a function of age, sex, stature, and BMI, all of which showed strong effects on rib cage geometry. Except for BMI, all parameters also showed significant effects on rib cross-sectional area using a linear mixed model. This statistical rib cage geometry model can serve as a geometric basis for developing a parametric human thorax finite element model for quantifying effects from different human attributes on thoracic injury risks.

  9. The mitochondrial genome of the gymnosperm Cycas taitungensis contains a novel family of short interspersed elements, Bpu sequences, and abundant RNA editing sites.

    Science.gov (United States)

    Chaw, Shu-Miaw; Shih, Arthur Chun-Chieh; Wang, Daryi; Wu, Yu-Wei; Liu, Shu-Mei; Chou, The-Yuan

    2008-03-01

    The mtDNA of Cycas taitungensis is a circular molecule of 414,903 bp, making it 2- to 6-fold larger than the known mtDNAs of charophytes and bryophytes, but similar to the average of 7 elucidated angiosperm mtDNAs. It is characterized by abundant RNA editing sites (1,084), more than twice the number found in the angiosperm mtDNAs. The A + T content of Cycas mtDNA is 53.1%, the lowest among known land plants. About 5% of the Cycas mtDNA is composed of a novel family of mobile elements, which we designated as "Bpu sequences." They share a consensus sequence of 36 bp with 2 terminal direct repeats (AAGG) and a recognition site for the Bpu 10I restriction endonuclease (CCTGAAGC). Comparison of the Cycas mtDNA with other plant mtDNAs revealed many new insights into the biology and evolution of land plant mtDNAs. For example, the noncoding sequences in mtDNAs have drastically expanded as land plants have evolved, with abrupt increases appearing in the bryophytes, and then in the seed plants. As a result, the genomic organizations of seed plant mtDNAs are much less compact than in other plants. Also, the Cycas mtDNA appears to have been exempted from the frequent gene loss observed in angiosperm mtDNAs. Similar to the angiosperms, the 3 Cycas genes nad1, nad2, and nad5 are disrupted by 5 group II intron squences, which have brought the genes into trans-splicing arrangements. The evolutionary origin and invasion/duplication mechanism of the Bpu sequences in Cycas mtDNA are hypothesized and discussed.

  10. Short tunnels.

    NARCIS (Netherlands)

    Schreuder, D.A.

    1965-01-01

    Before dealing with the question of lighting short tunnels, it is necessary define what is meant by a tunnel and when it should be called 'short'. Confined to motorized road traffic the following is the most apt definition of a tunnel: every form of roofing-over a road section, irrespective of it le

  11. Pseudoachondroplasia: Report on a South African family

    Directory of Open Access Journals (Sweden)

    Shahida Moosa

    2013-06-01

    Full Text Available Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.

  12. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    Energy Technology Data Exchange (ETDEWEB)

    Xiao Cuiying; Zhang Sizhong; Wang Jun; Qiu Weimin; Chi Leiting; Li Yunqing; Su Zhiguang

    2003-04-09

    Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked short stature, barrel-shaped chest, and dysplasia of the large joints. It is caused by the mutations of SEDL gene. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function of the gene could be predicted. However, this mutation has not been detected in 50 age and sex matched unrelated controls.

  13. Short communication

    African Journals Online (AJOL)

    preferred customer

    ABSTRACT: Nutrients, metabolizable energy (ME), anti-nutritional factors, digestible organic ... for animals are in short supply and expensive, ... peels from hotels (Hawassa); sisal waste from ..... chain omega-3 fatty acids in livestock meat and.

  14. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

    Directory of Open Access Journals (Sweden)

    Sillence David

    2011-06-01

    Full Text Available Abstract Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK and metatropic dysplasia (MD are currently considered three distinct skeletal dysplasias with some shared clinical features, including short stature, platyspondyly, and progressive scoliosis. Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes. Methods and Results We critically analysed the clinical and radiographic data on 26 subjects from 21 families, all of whom had a clinical diagnosis of one of the conditions described above: 15 with MD; 9 with SMDK; and 2 with brachyolmia. We sequenced TRPV4 and identified 9 different mutations in 22 patients, 4 previously described, and 5 novel. There were 4 mutation-negative cases: one with MD and one with SMDK, both displaying atypical clinical and radiographic features for these diagnoses; and two with brachyolmia, who had isolated spine changes and no metaphyseal involvement. Conclusions Our data suggest the TRPV4 skeletal dysplasias represent a continuum of severity with areas of phenotypic overlap, even within the same family. We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK.

  15. An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities

    NARCIS (Netherlands)

    S.E. Hannema (Sabine); H.A. van Duyvenvoorde (Hermine); P. Thomas (Premsler); R.-B. Yang (Ruey-Bing); T.D. Mueller (Thomas); I.J. Gassner (Ingrid); H. Oberwinkler (Heike); F. Roelfsema (Ferdinand); G.W.E. Santen (Gijs); T. Prickett (Timothy); S.G. Kant (Sarina); A. Verkerk; A.G. Uitterlinden (André); E. Espiner (Eric); C.A. Ruivenkamp (Claudia); W. Oostdijk (Wilma); A.M. Pereira (Alberto); M. Losekoot (Monique); M. Kuhn (Michael); J.M. Wit (Jan)

    2013-01-01

    textabstractBackground: C-type natriuretic peptide (CNP)/natriuretic peptide receptor 2 (NPR2) signaling is essential for long bone growth. Enhanced CNP production caused by chromosomal translocations results in tall stature, a Marfanoid phenotype, and skeletal abnormalities.Asimilar phenotype was d

  16. Disease: H00448 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ption) Stattin EL, Tegner Y, Domellof M, Dahl N Familial osteochondritis dissecans associated with early osteoarthritis... and disproportionate short stature. Osteoarthritis Cartilage 16:890-6..., and early-onset osteoarthritis Osteochondritis dissecans is defined as a separation of articular cartilage...H00448 Familial osteochondritis dissecans; Osteochondritis dissecans, short stature

  17. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

    Science.gov (United States)

    Lesca, Gaetan; Moizard, Marie-Pierre; Bussy, Gerald; Boggio, Dominique; Hu, Hao; Haas, Stefan A; Ropers, Hans-Hilger; Kalscheuer, Vera M; Des Portes, Vincent; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Raynaud, Martine; Lespinasse, James

    2013-12-01

    FG syndrome, Lujan syndrome, and Ohdo syndrome, the Maat-Kievit-Brunner type, have been described as distinct syndromes with overlapping non-specific features and different missense mutations of the MED12 gene have been reported in all of them. We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was linked to a 30-cM region extending from Xp11.21 (ALAS2) to Xq22.3 (COL4A5). Parallel sequencing of all X-chromosome exons identified a frameshift mutation (c.5898dupC) of MED12. Mutated mRNA was not affected by non-sense mediated RNA decay and induced an additional abnormal isoform due to activation of cryptic splice-sites in exon 41. Dysmorphic features common to most affected males were long narrow face, high forehead, flat malar area, high nasal bridge, and short philtrum. Language was absent or very limited. Most patients had a friendly personality. Cognitive impairment, varying from borderline to profound ID was similarly observed in seven heterozygous females. There was no correlation between cognitive function and X-chromosome inactivation profiles in blood cells. The severe degree of ID in male patients, as well as variable cognitive impairment in heterozygous females suggests that the duplication observed in the present family may have a more severe effect on MED12 function than missense mutations. In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13.3 including the YWHAE gene, was found in a mosaic state.

  18. Short Review

    DEFF Research Database (Denmark)

    Lynnerup, Niels; Rühli, Frank

    2015-01-01

    modality in ancient mummy research. The aim of this short review is to address the advantages and pitfalls of this particular technique for such unique samples. We recommend that when results of X-ray examination of mummies are presented, the specific recording data should be listed, and any given finds......, for example, of Paleopathology, should be cross-checked against other sources, for example, CT-scanning, direct inspection (also by endoscopy), and so forth....

  19. Biodemographic and sociocultural factors in two generations of families from six Polish rural and urban populations.

    Science.gov (United States)

    Wolański, N

    1994-01-01

    There were investigated 6967 families from 6 rural regions, under industrialization, and industrialized urban regions. In the grandparents generation there were taken into account 10 traits (an education level, a mating radius, and a stature) and in parents generation 17 traits (the mentioned-above ones and a number of family members, a flat size, incomes, an employees No., a life mode, smoking etc. Numerical characteristics of traits have been calculated jointly and separately in six populations, matrices of correlation have been constructed and moreover factorial analysis have been carried out, as a result of which 8 rotated factors have been obtained. The highest cultural mobility (increase in the level of education) from generation to generation occurs in the population of textile industry town Lódź. The highest improvement of biological status, the increase in mating radius and high incomes are characteristic for this regions, too. On the other side are villages with low culture mobility (not large increase in education level), slight improvement of biological status, almost no migrations, overcrowded flats and low income per family member. The relations between pairs of traits appear to vary largely in several populations. Generally is a high correlation between the education level of the same family members in both generations. The has been stated negative correlation between grandfather stature both of the mother and the father lines, with occurring of positive assortative mating in the couples of two generations. In both investigated generations there is the positive assortative mating, but the negative correlation in the stature between grandfathers of the mother and the father lines. The grandparents education level is correlated with their and their offsprings stature. The duration of holidays is one of the best (closely correlated with others) indicators of life mode, and partially of a given family living conditions, too. 8 hidden factors have been

  20. Short esophagus.

    Science.gov (United States)

    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.

  1. Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear

    OpenAIRE

    Sukarova-Angelovska, Elena; Kocova, Mirjana; Ilieva, Gordana; Angelkova, Natalija; Kochova, Elena

    2016-01-01

    Background Killian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical features of Killian-Pallister syndrome include mental retardation, typical facial dysmorphism and pigmentation defects. Case presentation We present a rare case of Killian-Pallister syndrome with severe ...

  2. Body Height Preferences and Actual Dimorphism in Stature between Partners in Two Non-Western Societies (Hadza and Tsimane'

    Directory of Open Access Journals (Sweden)

    Piotr Sorokowski

    2015-04-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

    Directory of Open Access Journals (Sweden)

    Frackelton Edward C

    2010-06-01

    Full Text Available Abstract Background Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. Methods To examine 51 single nucleotide polymorphisms (SNPs corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort. Results Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score. Conclusion Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood.

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

    Science.gov (United States)

    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.

  6. Changes in body mass, stature and BMI in South African elite U18 Rugby players from different racial groups from 2002-2012.

    Science.gov (United States)

    Durandt, Justin; Green, Mervin; Masimla, Herman; Lambert, Mike

    2017-04-20

    The purpose of this study was to determine whether there are differences between racial groups for body mass, stature and body mass index (BMI) in South African elite U18 rugby players and whether there were significant changes in these measurements between 2002 and 2012. Self-reported body mass and stature were obtained from U18 players (n = 4007) who attended the national tournament during this period. BMI was calculated for each player.White players were 9.8 kg heavier than black players, who were 2.3 kg heavier than coloured players (P body mass of all groups increased from 2002 to 2012 (P BMI of white players was 0.9 kg·m(-2) greater than black players who were on average 0.7 kg·m(-2) greater than coloured players (P BMI of all groups changed similarly over the study period. The body mass, stature and BMI of elite under-18 rugby players in South Africa were significantly different between racial groups. This has implications for transforming the game to make it representative of the South African population.

  7. Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters

    Directory of Open Access Journals (Sweden)

    Petr Ponomarenko

    2017-07-01

    Full Text Available While year after year, conditions, quality, and duration of human lives have been improving due to the progress in science, technology, education, and medicine, only eight diseases have been increasing in prevalence and shortening human lives because of premature deaths according to the retrospective official review on the state of US health, 1990-2010. These diseases are kidney cancer, chronic kidney diseases, liver cancer, diabetes, drug addiction, poisoning cases, consequences of falls, and Alzheimer's disease (AD as one of the leading pathologies. There are familial AD of hereditary nature (~4% of cases and sporadic AD of unclear etiology (remaining ~96% of cases; i.e., non-familial AD. Therefore, sporadic AD is no longer a purely medical problem, but rather a social challenge when someone asks oneself: “What can I do in my own adulthood to reduce the risk of sporadic AD at my old age to save the years of my lifespan from the destruction caused by it?” Here, we combine two computational approaches for regulatory SNPs: Web service SNP_TATA_Comparator for sequence analysis and a PubMed-based keyword search for articles on the biochemical markers of diseases. Our purpose was to try to find answers to the question: “What can be done in adulthood to reduce the risk of sporadic AD in old age to prevent the lifespan reduction caused by it?” As a result, we found 89 candidate SNP markers of familial and sporadic AD (e.g., rs562962093 is associated with sporadic AD in the elderly as a complication of stroke in adulthood, where natural marine diets can reduce risks of both diseases in case of the minor allele of this SNP. In addition, rs768454929, and rs761695685 correlate with sporadic AD as a comorbidity of short stature, where maximizing stature in childhood and adolescence as an integral indicator of health can minimize (or even eliminate the risk of sporadic AD in the elderly. After validation by clinical protocols, these candidate SNP

  8. Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.

    Science.gov (United States)

    Ponomarenko, Petr; Chadaeva, Irina; Rasskazov, Dmitry A; Sharypova, Ekaterina; Kashina, Elena V; Drachkova, Irina; Zhechev, Dmitry; Ponomarenko, Mikhail P; Savinkova, Ludmila K; Kolchanov, Nikolay

    2017-01-01

    While year after year, conditions, quality, and duration of human lives have been improving due to the progress in science, technology, education, and medicine, only eight diseases have been increasing in prevalence and shortening human lives because of premature deaths according to the retrospective official review on the state of US health, 1990-2010. These diseases are kidney cancer, chronic kidney diseases, liver cancer, diabetes, drug addiction, poisoning cases, consequences of falls, and Alzheimer's disease (AD) as one of the leading pathologies. There are familial AD of hereditary nature (~4% of cases) and sporadic AD of unclear etiology (remaining ~96% of cases; i.e., non-familial AD). Therefore, sporadic AD is no longer a purely medical problem, but rather a social challenge when someone asks oneself: "What can I do in my own adulthood to reduce the risk of sporadic AD at my old age to save the years of my lifespan from the destruction caused by it?" Here, we combine two computational approaches for regulatory SNPs: Web service SNP_TATA_Comparator for sequence analysis and a PubMed-based keyword search for articles on the biochemical markers of diseases. Our purpose was to try to find answers to the question: "What can be done in adulthood to reduce the risk of sporadic AD in old age to prevent the lifespan reduction caused by it?" As a result, we found 89 candidate SNP markers of familial and sporadic AD (e.g., rs562962093 is associated with sporadic AD in the elderly as a complication of stroke in adulthood, where natural marine diets can reduce risks of both diseases in case of the minor allele of this SNP). In addition, rs768454929, and rs761695685 correlate with sporadic AD as a comorbidity of short stature, where maximizing stature in childhood and adolescence as an integral indicator of health can minimize (or even eliminate) the risk of sporadic AD in the elderly. After validation by clinical protocols, these candidate SNP markers may become

  9. Short QT syndrome

    Directory of Open Access Journals (Sweden)

    Fiorenzo Gaita

    2011-12-01

    Full Text Available The short QT syndrome (SQTS is a recently described genetic arrhythmogenic disorder, characterized by abnormally short QT intervals on surface electrocardiogram (ECG and a high incidence of sudden death (SD during life, including the first months of life. The inheritance of SQTS is autosomal dominant, with genetic heterogeneity. Gain-of-function mutations in 3 genes encoding potassium channels have been associated to the disease: KCNH2 encoding IKr (SQT1, KCNQ1 encoding IKs (SQT2, and KCNJ2 encoding IK1 (SQT3. Loss-of-function mutations in 3 genes encoding the cardiac L-type calcium channel, CACNA1C, CACNB2b and CACNA2D1 may underlie a mixed phenotype of Brugada pattern ECG (or non-specific repolarization changes in case of CACNA2D1 and shorter than normal QT intervals. Clinical presentation is often severe, as cardiac arrest represents the first clinical presentation in most subjects. Moreover, often a noticeable family history of cardiac SD is present. Atrial fibrillation may be observed, also in young individuals. At electrophysiological study, short atrial and ventricular refractory periods are found, and atrial and ventricular fibrillation are easily induced by programmed electrical stimulation. The outcome of patients with SQTS becomes relatively safe when they are identified and treated. Currently, the suggested therapeutic strategy is an implantable cardioverter- defibrillator (ICD in patients with personal history of aborted SD or syncope. In asymptomatic adult patients from highly symptomatic families and in newborn children pharmacological treatment with hydroquinidine, which has been shown to prolong the QT interval and reduce the inducibility of ventricular arrhythmias, may be proposed.

  10. Short QT syndrome.

    Science.gov (United States)

    Schimpf, Rainer; Wolpert, Christian; Gaita, Fiorenzo; Giustetto, Carla; Borggrefe, Martin

    2005-08-15

    The short QT syndrome constitutes a new clinical entity that is associated with a high incidence of sudden cardiac death, syncope, and/or atrial fibrillation even in young patients and newborns. Patients with this congenital electrical abnormality are characterized by rate-corrected QT intervalsdelayed-rectifier current I(Kr) have been identified in the first two reported families with familial sudden cardiac death. Recently, two further gain-of-function mutations in the KCNQ1 gene encoding the alpha-subunit of the KvLQT1 (I(Ks)) channel and in the KCNJ2 gene encoding the strong inwardly rectifying channel protein Kir2.1 confirmed a genetically heterogeneous disease. The possible substrate for the development of ventricular tachyarrhythmias may be a significant transmural dispersion of the repolarisation due to a heterogeneous abbreviation of the action potential duration. The implantable cardioverter defibrillator is the therapy of choice in patients with syncope and a positive family history of sudden cardiac death. However, ICD therapy in patients with a short QT syndrome has an increased risk for inappropriate shock therapies due to possible T wave oversensing. The impact of sotalol, ibutilide, flecainide, and quinidine on QT prolongation has been evaluated, but only quinidine effectively suppressed gain-of-function in I(Kr) with prolongation of the QT interval. In patients with a mutation in HERG, it rendered ventricular tachycardias/ventricular fibrillation non-inducible and restored the QT interval/heart rate relationship towards a normal range. It may serve as an adjunct to ICD therapy or as a possible alternative treatment, especially for children and newborns.

  11. Family and Cultural Capital. The perspective of familiness

    OpenAIRE

    Ortíz García, Pilar; Olaz Capitán, Ángel José; Monreal Martínez, Juan

    2014-01-01

    The influence of the family on a business, its commitment to the company and the values it conveys form a capital capable of influencing the global development of a business. This research analyzes family capital and in particular its cultural components as a resource influencing the direction of the company. Corporate culture as a guiding philosophy for family business strategy is a key factor in its success. In short, the cultural capital of a family business is a capac...

  12. Systematic Investigation of FLOWERING LOCUS T-Like Poaceae Gene Families Identifies the Short-Day Expressed Flowering Pathway Gene, TaFT3 in Wheat (Triticum aestivum L.)

    Science.gov (United States)

    Halliwell, Joanna; Borrill, Philippa; Gordon, Anna; Kowalczyk, Radoslaw; Pagano, Marina L.; Saccomanno, Benedetta; Bentley, Alison R.; Uauy, Cristobal; Cockram, James

    2016-01-01

    To date, a small number of major flowering time loci have been identified in the related Triticeae crops, bread wheat (Triticum aestivum), durum wheat (T. durum), and barley (Hordeum vulgare). Natural genetic variants at these loci result in major phenotypic changes which have adapted crops to the novel environments encountered during the spread of agriculture. The polyploid nature of bread and durum wheat means that major flowering time loci in which recessive alleles confer adaptive advantage in related diploid species have not been readily identified. One such example is the PPD-H2 flowering time locus encoded by FLOWERING LOCUS T 3 (HvFT3) in the diploid crop barley, for which recessive mutant alleles confer delayed flowering under short day (SD) photoperiods. In autumn-sown barley, such alleles aid the repression of flowering over the winter, which help prevent the development of cold-sensitive floral organs until the onset of inductive long day (LD) photoperiods the following spring. While the identification of orthologous loci in wheat could provide breeders with alternative mechanisms to fine tune flowering time, systematic identification of wheat orthologs of HvFT3 has not been reported. Here, we characterize the FT gene families in six Poaceae species, identifying novel members in all taxa investigated, as well as FT3 homoeologs from the A, B and D genomes of hexaploid (TaFT3) and tetraploid wheat. Sequence analysis shows TaFT3 homoeologs display high similarity to the HvFT3 coding region (95–96%) and predicted protein (96–97%), with conservation of intron/exon structure across the five cereal species investigated. Genetic mapping and comparative analyses in hexaploid and tetraploid wheat find TaFT3 homoeologs map to the long arms of the group 1 chromosomes, collinear to HvFT3 in barley and FT3 orthologs in rice, foxtail millet and brachypodium. Genome-specific expression analyses show FT3 homoeologs in tetraploid and hexaploid wheat are upregulated

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  15. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  16. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  17. Family Life

    Science.gov (United States)

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  18. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

    Science.gov (United States)

    Telegrafi, Aida; Webb, Bryn D; Robbins, Sarah M; Speck-Martins, Carlos E; FitzPatrick, David; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J T; Verloes, Alain; Robles, Angela; Manoli, Irini; Engle, Elizabeth C; Jabs, Ethylin W; Valle, David; Carey, John; Hoover-Fong, Julie E; Sobreira, Nara L M

    2017-10-01

    Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.Trp284Ser variant in STAC3 in both sisters. The second proband and his affected sister are from a non-consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. The siblings were identified to be compound heterozygous for STAC3 variants c.851G>C;p.Trp284Ser and c.763_766delCTCT;p.Leu255IlefsX58. Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. We did not identify any rare coding variants in STAC3. NAM should be considered in patients presenting with facial and generalized weakness, normal or mildly abnormal extraocular movement, hypotonia, cleft palate, and scoliosis, particularly if there is a history of MH. © 2017 Wiley Periodicals, Inc.

  19. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

    Science.gov (United States)

    Ou, Zhishuo; Jarmuz, Małgorzata; Sparagana, Steven P; Michaud, Jacques; Décarie, Jean-Claude; Yatsenko, Svetlana A; Nowakowska, Beata; Furman, Patti; Shaw, Chad A; Shaffer, Lisa G; Lupski, James R; Chinault, A Craig; Cheung, Sau W; Stankiewicz, Paweł

    2006-09-01

    We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed a der(14)t(14;17)(p12;p12) in both siblings, inherited from their father, a carrier of the balanced translocation. Chromosome microarray and FISH analyses revealed that the PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an approximately 383 kb LCR17pA that is known to also be the site of several breakpoints of different chromosome aberrations including the evolutionary translocation t(4;19) in Gorilla gorilla. In family two, a patient with developmental delay, subtle dysmorphic features, ventricular enlargement with decreased periventricular white matter, mild findings of bilateral perisylvian polymicrogyria and a very small anterior commissure, a cryptic duplication including the Miller-Dieker syndrome region was identified by chromosome microarray analysis. The chromosome 17 breakpoint was mapped by FISH at the TRE-2 oncogene. Both partner chromosome breakpoints were mapped on the short arm acrocentric heterochromatin within or distal to the rRNA cluster, distal to the region commonly rearranged in Robertsonian translocations. We propose that TRE-2 together with LCR17pA, located approximately 10 Mb apart, also generated the evolutionary gorilla translocation t(4;19). Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution.

  20. Familial hypertriglyceridemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  1. Family Meals

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  2. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  3. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  4. Mucin-type O-glycosylation is controlled by short- and long-range glycopeptide substrate recognition that varies among members of the polypeptide GalNAc transferase family

    DEFF Research Database (Denmark)

    Revoredo, Leslie; Wang, Shengjun; Bennett, Eric Paul;

    2016-01-01

    A large family of UDP-GalNAc:polypeptide GalNAc transferases (ppGalNAc-Ts) initiates and defines sites of mucin-type Ser/Thr-O-GalNAc glycosylation. Family members have been classified into peptide- and glycopeptide-preferring subfamilies, although both families possess variable activities against...... glycopeptide substrates. All but one isoform contains a C-terminal carbohydrate-binding lectin domain whose roles in modulating glycopeptide specificity is just being understood. We have previously shown for several peptide-preferring isoforms that the presence of a remote Thr-O-GalNAc, 6-17 residues from...... a Ser/Thr acceptor site, may enhance overall catalytic activity in an N- or C-terminal direction. This enhancement varies with isoform and is attributed to Thr-O-GalNAc interactions at the lectin domain. We now report on the glycopeptide substrate utilization of a series of glycopeptide (h-ppGalNAc-T4...

  5. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  6. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  7. [Familial articular chondrocalcinosis: study of an Alsatian family].

    Science.gov (United States)

    Netter, P; Loeuille, D; Jouzeau, J Y; Gillet, P; Peterschmitt, J; Pourel, J; Gaucher, A

    2001-01-01

    Familial articular chondrocalcinosis is a chronic articular disease characterized by acute intermittent attacks of arthritis, presence of calcium pyrophosphate dihydrate crystal in synovial fluid, cartilage and periarticular soft tissue and by x rays calcium deposition in articular cartilage. A family originating from Alsace, with an autosomal dominant transmission has been studied. As in English and Argentinean families, a linkage to the short arm of chromosome 5p has been found. These results suggest that a defective gene at this location may be related to the chondrocalcinosis in these families.

  8. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

    Energy Technology Data Exchange (ETDEWEB)

    Ballabio, A.; Andria, G. (Univ. of Reggio Calabria, Catanzaro (Italy)); Bardoni, B.; Fraccaro, M.; Maraschio, P.; Zuffardi, O.; Guioli, S.; Camerino, G. (Univ. of Pavia (Italy)); Carrozzo, R. (Univ. of Naples (Italy)); Bick, D.; Campbell, L. (Univ. of Texas, San Antonio (USA)); Hamel, B. (Univ. of Nijmegen (Netherlands)); Ferguson-Smith, M.A. (Univ. of Cambridge (England)); Gimelli, G. (G. Gaslini Institute, Genoa (Italy))

    1989-12-01

    Mendelian inherited disorders to deletions of adjacent genes on a chromosome have been described as contiguous gene syndromes. Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combination in 27 patients with interstitial and terminal deletions involving the distal short are of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

  9. My Family s Looks

    Institute of Scientific and Technical Information of China (English)

    侯耀南

    2006-01-01

    I have a happy family.There are three people in my family: My mother, my father and I. Let me tell you about my family’s looks: My father has short straight hair and bright black eyes. He is medium build and he is very tall. He is such a good teacher that all of us love and respect him. He likes telling jokes. He never stops talking. I love my hand- some father just because he loves me. My mother is a kind and gentle woman. She has long curly fair hair. She is tall and slim. I think she is beautiful. But no...

  10. Mucin-type O-glycosylation is controlled by short- and long-range glycopeptide substrate recognition that varies among members of the polypeptide GalNAc transferase family.

    Science.gov (United States)

    Revoredo, Leslie; Wang, Shengjun; Bennett, Eric Paul; Clausen, Henrik; Moremen, Kelley W; Jarvis, Donald L; Ten Hagen, Kelly G; Tabak, Lawrence A; Gerken, Thomas A

    2016-04-01

    A large family of UDP-GalNAc:polypeptide GalNAc transferases (ppGalNAc-Ts) initiates and defines sites of mucin-type Ser/Thr-O-GalNAc glycosylation. Family members have been classified into peptide- and glycopeptide-preferring subfamilies, although both families possess variable activities against glycopeptide substrates. All but one isoform contains a C-terminal carbohydrate-binding lectin domain whose roles in modulating glycopeptide specificity is just being understood. We have previously shown for several peptide-preferring isoforms that the presence of a remote Thr-O-GalNAc, 6-17 residues from a Ser/Thr acceptor site, may enhance overall catalytic activity in an N- or C-terminal direction. This enhancement varies with isoform and is attributed to Thr-O-GalNAc interactions at the lectin domain. We now report on the glycopeptide substrate utilization of a series of glycopeptide (human-ppGalNAc-T4, T7, T10, T12 and fly PGANT7) and peptide-preferring transferases (T2, T3 and T5) by exploiting a series of random glycopeptide substrates designed to probe the functions of their catalytic and lectin domains. Glycosylation was observed at the -3, -1 and +1 residues relative to a neighboring Thr-O-GalNAc, depending on isoform, which we attribute to specific Thr-O-GalNAc binding at the catalytic domain. Additionally, these glycopeptide-preferring isoforms show remote lectin domain-assisted Thr-O-GalNAc enhancements that vary from modest to none. We conclude that the glycopeptide specificity of the glycopeptide-preferring isoforms predominantly resides in their catalytic domain but may be further modulated by remote lectin domain interactions. These studies further demonstrate that both domains of the ppGalNAc-Ts have specialized and unique functions that work in concert to control and order mucin-type O-glycosylation.

  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

    Directory of Open Access Journals (Sweden)

    Guo Jiazhong

    2012-10-01

    Full Text Available Abstract 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

  12. The power of the Kashrut: older but shorter : The impact of religious nutritional and hygienic rules on stature and life expectancy of Jewish conscripts in the early 19th century

    NARCIS (Netherlands)

    Tassenaar, V.; Karel, Erwin

    2016-01-01

    Background/Objectives: We test the impact of several demographic, economic and social factors on stature in an early nineteenth century environment. Subjects/Methods: We use a database of conscripts from the period 1818–1860 of a rural province in The Netherlands (Drenthe). This area had a rather

  13. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  14. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  15. Familial dermographism.

    Science.gov (United States)

    Jedele, K B; Michels, V V

    1991-05-01

    Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.

  16. Little People of America

    Science.gov (United States)

    ... information. World Dwarf Games 2017 Welcome to Little People of America Little People of America (LPA) is a nonprofit organization that provides support and information to people of short stature and their families. LPA is ...

  17. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  18. Short-circuit logic

    NARCIS (Netherlands)

    Bergstra, J.A.; Ponse, A.

    2010-01-01

    Short-circuit evaluation denotes the semantics of propositional connectives in which the second argument is only evaluated if the first argument does not suffice to determine the value of the expression. In programming, short-circuit evaluation is widely used. A short-circuit logic is a variant of p

  19. Should blood gas analysis be part of the diagnostic workup of short children? Auxological data and blood gas analysis in children with renal tubular acidosis.

    Science.gov (United States)

    Mul, D; Grote, F K; Goudriaan, J R; de Muinck Keizer-Schrama, S M P F; Wit, J M; Oostdijk, W

    2010-01-01

    Renal tubular acidosis (RTA) is a rare cause of growth failure, therefore it is uncertain whether routine screening with blood gas analysis of short infants and children is cost-effective. To investigate the clinical, growth and laboratory parameters in children with RTA to estimate the possible value of laboratory screening for this disorder in infants and children referred for short stature according to a recent guideline. Retrospective chart analysis of 30 children diagnosed between 1978 and 2005 in The Netherlands and 3 centers in Belgium. The current guideline for short stature detected 33% of children with RTA. Assuming a pre-test probability of RTA of 0.6 per 100,000 births, the likelihood ratio of poor growth was 58 and 17 below and above 3 years, respectively. Sensitivity was 17/30 and 12/24 for a -2.0 SDS cutoff for weight and body mass index, respectively. In infants and toddlers diagnosed before 3 years of age, the mean weight loss was 1.5 SD, and 0.8 SDS in older children. In short children >3 years RTA was extremely rare, always associated with clinical symptoms, and rarely detected by blood gas analysis. According to our data a decreasing weight SDS for age is a sufficient indication to perform blood gas analysis in children 3 years of age. Copyright © 2010 S. Karger AG, Basel.

  20. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  1. My Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Everyone has a family.We live in it and feel very warm.There are three persons in my family,my mother,father and I.We live together very happily and there are many interesting stories about my family. My father is a hard-working man.He works as a doctor.He always tries his best to help every,patient and make patients comfortable.But sonetimes he works so hard

  2. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  3. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikke...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  4. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

    Directory of Open Access Journals (Sweden)

    Nicole Soranzo

    2009-04-01

    Full Text Available Recent genome-wide (GW scans have identified several independent loci affecting human stature, but their contribution through the different skeletal components of height is still poorly understood. We carried out a genome-wide scan in 12,611 participants, followed by replication in an additional 7,187 individuals, and identified 17 genomic regions with GW-significant association with height. Of these, two are entirely novel (rs11809207 in CATSPER4, combined P-value = 6.1x10(-8 and rs910316 in TMED10, P-value = 1.4x10(-7 and two had previously been described with weak statistical support (rs10472828 in NPR3, P-value = 3x10(-7 and rs849141 in JAZF1, P-value = 3.2x10(-11. One locus (rs1182188 at GNA12 identifies the first height eQTL. We also assessed the contribution of height loci to the upper- (trunk and lower-body (hip axis and femur skeletal components of height. We find evidence for several loci associated with trunk length (including rs6570507 in GPR126, P-value = 4x10(-5 and rs6817306 in LCORL, P-value = 4x10(-4, hip axis length (including rs6830062 at LCORL, P-value = 4.8x10(-4 and rs4911494 at UQCC, P-value = 1.9x10(-4, and femur length (including rs710841 at PRKG2, P-value = 2.4x10(-5 and rs10946808 at HIST1H1D, P-value = 6.4x10(-6. Finally, we used conditional analyses to explore a possible differential contribution of the height loci to these different skeletal size measurements. In addition to validating four novel loci controlling adult stature, our study represents the first effort to assess the contribution of genetic loci to three skeletal components of height. Further statistical tests in larger numbers of individuals will be required to verify if the height loci affect height preferentially through these subcomponents of height.

  5. Estado nutricional de crianças assistidas em creches e situação de (insegurança alimentar de suas famílias Nutritional status of children attended in day-care-centers and food (insecurity of their families

    Directory of Open Access Journals (Sweden)

    Maercio Mota de Souza

    2012-12-01

    factors with short stature were low maternal stature and incomplete vaccination. In relation to low weight, the associated factor was maternal age under 20 years. The overweight child was associated with excessive maternal weight and maternal short stature. In 59.6% of families, there was food and nutrition insecurity, the mild form being more frequent (32.4%. Overweight and stunting were found to be the most common nutritional disorders in this study, constituting priorities that should be considered in current public policies.

  6. Small Families

    Science.gov (United States)

    ... easier for both parents to combine careers with family life. The general stress level is lower because there often are fewer ... can help replace the missing ties. For many families, religious congregational ... such as youth and neighborhood activity centers also can fulfill these ...

  7. FAMILY PLATYSTOMATIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli

    2016-06-14

    Platystomatidae (Signal Flies) are one of the largest families of Tephritoidea, with about 1200 species and four subfamilies, worldwide distributed. However, Platystomatidae are not well represented in the New World, and in the Neotropical Region only four genera and 26 species, belonging to Platystomatinae, are recorded. The family is a group understudied in Colombia and only one species is recorded to the country.

  8. [Short lingual frenulum].

    Science.gov (United States)

    Klockars, Tuomas

    2013-01-01

    Short lingual frenulum is a common structural abnormality with unknown mechanisms of origination. The frequency of occurrence among newborn infants can be as high as 4%. Short lingual frenulum may cause problems, if it restricts the movements of the tongue. Therapeutic indications for short lingual frenulum in newborn infants are mainly breastfeeding problems, whereas in children of preschool age and older the indication is defective pronunciation.

  9. Long and short GRB

    CERN Document Server

    Katz, J I

    1995-01-01

    We report evidence from the 3B Catalogue that short (T_90 10 s) GRB represent different populations and processes: Their spectral behavior is qualitatively different, with short bursts harder in the BATSE range, but chiefly long bursts detected at higher photon energies; \\langle V/V_max \\rangle = 0.385 \\pm 0.019 for short GRB but \\langle V/V_max \\rangle = 0.282 \\pm 0.014 for long GRB, differing by 0.103 \\pm 0.024. Long GRB may be the consequence of accretion-induced collapse, but this mechanism fails for short GRB, for which we suggest colliding neutron stars.

  10. 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.

    Directory of Open Access Journals (Sweden)

    Akiko Takasuga

    2015-08-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  12. Case of congenital short small intestine: survival with use of long-term parenteral feeding.

    Science.gov (United States)

    Dorney, S F; Byrne, W J; Ament, M E

    1986-03-01

    Isolated congenital short small intestine is a rare anomaly. Of six (one male, five females) previously reported cases, four died in infancy from intractable diarrhea. We report the case of 7-year-old boy with this syndrome in whom a 2-year period of parenteral feeding at home allowed normal weight gain, growth, and development while intestinal adaptation occurred. Parenteral feeding was discontinued at age 2 1/3 years, and for the past 5 years his weight has remained between the tenth and 25th percentiles and his stature between the 25th and 50th percentiles. His development has been normal and he functions at or above grade level at school. Coefficient of fat absorption has increased from 54% to 81%. Vitamin B12 absorption has improved but has not normalized. He remains lactose intolerant. We believe his survival, growth, and development would have been compromised if he had not received a prolonged period of parenteral feeding.

  13. Changing families, changing workplaces.

    Science.gov (United States)

    Bianchi, Suzanne M

    2011-01-01

    without permanently derailing a fulfilling career. Others need short-term support to attend to a family health crisis. How best to meet this multiplicity of needs is the challenge of the coming decade.

  14. Melting Pots: Family Stories & Recipes.

    Science.gov (United States)

    Weber, Judith Eichler

    Discussing the different ways people (including Chinese, Greek, African-American, English, and Cuban) celebrate with food, this book presents a brief account of various celebrations followed by a short story involving each celebration. Celebrations discussed in the book are family parties, birthday parties, school parties, surprise parties, and…

  15. Family Disruptions

    Science.gov (United States)

    ... stay angry, or avoid fights altogether? Your children model themselves on you. Departures and Returns Do you or your spouse frequently travel on business? These can be disruptive times for your child and for the family ...

  16. Familial hypercholesterolemia

    Science.gov (United States)

    ... hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families ... called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this ...

  17. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    OBJECTIVES: To relate illness and family factors to emotional and behavioural problems in school-age children (7–14 years old) of parents with acquired brain injury and their healthy spouses. PARTICIPANTS, MATERIALS/METHODS: Members of 35 families in which a parent had been diagnosed with acquired...... brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p

  18. Families in the Military

    Science.gov (United States)

    ... Contents Facts For Families Guide - View by Topic Chinese Facts for Families Guide Facts For Families Guide - Search Spanish Facts for Families Guide Facts for Families - Vietnamese Military Families No. 88; updated March 2017 Global conflict ...

  19. Ser217Cys mutation in the Ig Ⅱ domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia

    Institute of Scientific and Technical Information of China (English)

    ZHANG Shi-rong; ZHOU Xiao-qing; REN Xiang; WANG Tian-tian; YUAN Ming-xiong; WANG Qing; LIU Jing-yu; LIU Mu-gen

    2007-01-01

    @@ Achondroplasia (ACH) is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.

  20. Familial Mediterranean Fever (FMF

    Directory of Open Access Journals (Sweden)

    Onur Albayrak

    2009-08-01

    Full Text Available Familial Mediterranean Fever (FMF is an autosomal recessive genetic disease that affects males and females. FMF gene is on the short arm of chromosome 16. It is most often found in Jews, Arabs, Turks, and Armenians. Amyloidosis is charecterized by the deposition of a particular protein between the cells in the tissue. It is a potentially serious complication of FMF. The kidney is a prime target for the amyloid. [Archives Medical Review Journal 2009; 18(4.000: 260-267

  1. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

    DU Juan; XU Guo-qiang; XU Ping; JIN En-yun; LIU Qiong; LI You-ming

    2007-01-01

    @@ Congenital short pancreas, also known as partial agenesis or hypoplasia of the dorsal pancreas1 is a rare congenital abnormality consisting of the parenchyma and ductal system restricted to the head with some residual dorsal tapering and arborizing ducts communicating with the minor papill.2 Complete pancreatic agenesis is fatal, and only nine possible examples of partial agenesis have been previously reported in adults in the literature.3-10 Three of them were polysplenia syndrome associated with short pancreas,and only six patients with congenital short pancreas with normal situs. Here we present a new case associated with steatorrhoea.

  2. PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

    Science.gov (United States)

    Oostdijk, Wilma; Idkowiak, Jan; Mueller, Jonathan W.; House, Philip J.; Taylor, Angela E.; O'Reilly, Michael W.; Hughes, Beverly A.; de Vries, Martine C.; Kant, Sarina G.; Santen, Gijs W. E.; Verkerk, Annemieke J. M. H.; Uitterlinden, André G.; Wit, Jan M.; Losekoot, Monique

    2015-01-01

    Context: PAPSS2 (PAPS synthase 2) provides the universal sulfate donor PAPS (3′-phospho-adenosine-5′-phosphosulfate) to all human sulfotransferases, including SULT2A1, responsible for sulfation of the crucial androgen precursor dehydroepiandrosterone (DHEA). Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. Patients and Methods: We investigated a family harboring two novel PAPSS2 mutations, including two compound heterozygous brothers presenting with disproportionate short stature, low serum DHEA sulfate, but normal serum androgens. Patients and parents underwent a DHEA challenge test comprising frequent blood sampling and urine collection before and after 100 mg DHEA orally, with subsequent analysis of DHEA sulfation and androgen metabolism by mass spectrometry. The functional impact of the mutations was investigated in silico and in vitro. Results: We identified a novel PAPSS2 frameshift mutation, c.1371del, p.W462Cfs*3, resulting in complete disruption, and a novel missense mutation, c.809G>A, p.G270D, causing partial disruption of DHEA sulfation. Both patients and their mother, who was heterozygous for p.W462Cfs*3, showed increased 5α-reductase activity at baseline and significantly increased production of active androgens after DHEA intake. The mother had a history of oligomenorrhea and chronic anovulation that required clomiphene for ovulation induction. Conclusions: We provide direct in vivo evidence for the significant functional impact of mutant PAPSS2 on DHEA sulfation and androgen activation. Heterozygosity for PAPSS2 mutations can be associated with a phenotype resembling polycystic ovary syndrome. PMID:25594860

  3. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

    Science.gov (United States)

    Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V

    2010-12-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.

  4. Eficiência da seleção recorrente para redução da estatura de plantas em mamoneira (Ricinus communis L. Recurrent selection efficiency for stature reduction of castor bean (Ricinus communis L. plants

    Directory of Open Access Journals (Sweden)

    Inocencio Junior de Oliveira

    2008-08-01

    Full Text Available Realizou-se, o presente trabalho, com o objetivo de avaliar a eficiência da seleção recorrente para a redução da estatura de plantas de mamona da cultivar Guarani (Ricinus communis L., tornando-a com porte adequado para facilitar a colheita manual e/ou mecânica. Foram realizados quatro ciclos de seleção recorrente com a utilização de progênies autofecundadas na cultivar Guarani para redução da estatura das plantas, nas condições edafoclimáticas dos municípios de São Manuel - SP, Botucatu - SP e Penápolis - SP. As avaliações de estatura das plantas e de produtividade de grãos (kg.ha-1, dos quatro ciclos de seleção e do ciclo original foram realizadas nos municípios de São Manuel - SP, Botucatu - SP e Penápolis - SP na safra 2005/2006, sob um delineamento de blocos casualizados com cinco repetições e parcela útil de 30 m². A análise de variância para as características avaliadas foi feita separadamente para cada local e conjuntamente para os três locais e, posteriormente, realizada a comparação das médias pelo teste de Tukey, a 5%. Foram estimados, para as três localidades, por análise de regressão, os ganhos genéticos dos quatros ciclos de seleção para estatura de plantas. A partir dos resultados obtidos pôde-se concluir que a seleção recorrente foi eficiente para a redução da estatura de plantas e que a cultivar de mamona Guarani apresenta variabilidade genética para essa característica e que a produtividade não foi influenciada pela redução da estatura de plantas.The aim of this work was to evaluate the recurrent selection efficiency for reduction of stature of the castor bean plants of the Guarani cultivar (Ricinus communis L., turning it with appropriate strucuture to facilitate the manual and/or mechanic harvest. Four cycles of recurrent selection were accomplished through the utilization of self-pollinated progenies in the Guarani cultivar for reduction of plants stature, in

  5. Does priming with sex steroids improve the diagnosis of normal growth hormone secretion in short children?

    Directory of Open Access Journals (Sweden)

    Ashraf Soliman

    2014-01-01

    Full Text Available Introduction: There is still controversy for priming with sex steroid before growth hormone (GH testing. Objective: We studied GH response to stimulation in 92 children >9 years with idiopathic short stature (height standard deviation score [HtSDS]-2. They were divided randomly into two groups. Children in Group 1 (n = 50 were primed with premarin in girls and testosterone in boys and those in Group 2 were not primed (n = 42. All children were tested using standard clonidine test and their serum insulin-like growth factor-I concentration (IGF-I. Additionally the growth and GH-IGF-I data of the two groups of children were compared with those for 32 short children (HtSDS 9 years. The peak GH response to clonidine provocation test did not differ before (n = 42 versus after 9 years (n = 32 of age. Conclusions: In this randomized study priming with sex steroids before GH testing did not significantly increase the yield of diagnosing short patients with normal GH secretion. In addition, GH response to provocation did not vary significantly between young (9 years short children.

  6. Minimizing Shortness of Breath

    Science.gov (United States)

    ... is also placed on proper use of the abdominal muscles to better control episodes of shortness of breath, ... Treatment & Programs Health Insights Doctors & Departments Research & Science Education & Training Make a Donation Make an Appointment Contact ...

  7. Short-cut math

    CERN Document Server

    Kelly, Gerard W

    1984-01-01

    Clear, concise compendium of about 150 time-saving math short-cuts features faster, easier ways to add, subtract, multiply, and divide. Each problem includes an explanation of the method. No special math ability needed.

  8. Shortness of Breath

    Science.gov (United States)

    ... shortness of breath with physical exertion beyond your customary activity such as when climbing stairs. Allergic Reactions ... 75231 Copyright © 2014 American Heart Association, Inc. All rights reserved. Print ISSN: 0009-7322. Online ISSN: 1524- ...

  9. Family Literacy

    Directory of Open Access Journals (Sweden)

    Livija Knaflič

    1999-12-01

    Full Text Available Research in child and adult literacy demonstrates that the achievement and the level of literacy that children attain at school is connected with the social and cultural characteristics and the level of literacy of the child's family. This intergenerational transfer of the level of literacy has motivated the search for different ways of improving the level of literacy.The concept of family literacy is based on the assumption that a higher level of parent literacy means that the children may achieve the same, and it also offers better schooling prospects. Family literacy programmes help fami­lies to develop different activities, in­cluding reading and writing skills, both in their community and in everyday life.

  10. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2011-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

  11. Family Circle

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Foster care is conducive to giving orphaned children a better life For most children living in orphanages, having a real home is just a pipe dream. Although they may be well looked after, receive a good education and proper nutrition, the love and care that come from being part of a real family just aren't there.

  12. My Family

    Institute of Scientific and Technical Information of China (English)

    刘才来

    2002-01-01

    There are four people in my family. They are grandma, father,mother and I. Now we all live in Wuhan. They are from different places. My grandma comes from Sichuan. She likes hot(辣4的) meat very much. She doesn't like bread or noodles at all. She likes vegetables a little. My father is from Guang Zhou.

  13. My Family

    Institute of Scientific and Technical Information of China (English)

    李梅

    2012-01-01

    There are four people in my family--my parents, my brother and I. My name is Li Mei. I'm fifteen years old. I am of medium height and build. I like English very much. It's very interesting. I can play the piano very well. It makes me feel very happy.

  14. Finding Family

    Institute of Scientific and Technical Information of China (English)

    LIU YUNYUN

    2010-01-01

    @@ It took 14 years--and just two min-utes-for an adopted Chinese girl to find her biological family. July 21 this year marked the first anniversary of Haley Butler's finding of her biological parents in Maanshan in east China's Anhui Province.

  15. FAMILY RICHARDIIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli; Ale-Rocha, Rosaly

    2016-06-14

    Richardiidae are a family of "acalyptrate" Diptera represented by ca. 180 species distributed in the New World, mostly in the Neotropical region. The species that occur in Colombia have received little attention from taxonomists, and the great majority of them are known only from their type localities. Currently, 14 genera and 23 species are known to occur in the country.

  16. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  17. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  18. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

    cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). RESULTS: Seven FH patients were asymptomatic and six had...

  19. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  20. Long-Short Portfolio

    Directory of Open Access Journals (Sweden)

    Leo Shubert

    2006-11-01

    Full Text Available Long-short strategies are one of the most successful tools, applied by hedge funds manager. One under-evaluated stock is bought (long position and an over-evaluated stock is sold (short position at the same time. After a short term, when the values of the stocks are as expected, profit can be realized by a closing transaction. The possibility to find first obvious over- and under-evaluated stocks depends on the number of participants in this markets. While the hedge funds strategies become more popular, the chance to achieve profit by this strategies is shrinking.Therefore two models to generate long-short portfolios are proposed. By this approaches a portfolio A for the long- and a portfolio B for the short position were computed. The difference of the values of A and B is designed to oscillate from negative to positive and reverse. This behavior of oscillating or mean reverting stock prices was stated by e.g. E. Fama and K. R. French (1988. Mean reversion of portfolios can offer the possibility of statistical arbitrage. The proposed linear models were tested by stocks of the Tokyo stock exchange. The results seem to be applicable and show an additional advantage of low systematic risk.

  1. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

    ... terms used on this page Learning About Familial Hypercholesterolemia What is familial hypercholesterolemia? What are the symptoms ... Additional Resources About Familial Hypercholesterolemia What is familial hypercholesterolemia? Familial hypercholesterolemia is an inherited condition that causes ...

  2. Natural Family Planning

    Science.gov (United States)

    ... Sex and Birth Control Birth Control Natural Family Planning Natural Family Planning Birth ControlPrevention and WellnessSex and Birth Control Share Natural Family Planning Natural Family PlanningWhat is natural family planning?Natural ...

  3. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  4. Family Snapshots: A Descriptive Classroom Exercise in Memory and Insight

    Science.gov (United States)

    Gladding, Samuel T.; Cox, Elizabeth

    2008-01-01

    "Family Snapshots" are 100-words-or-less descriptive memories of times in the lives of families that highlight poignant moments. They complement other exercises within a family counseling course, including the use of genograms. Modeled after the "Washington Post Magazine"'s series "Life Is Short: Autobiography as Haiku," these snapshots give…

  5. My family

    Institute of Scientific and Technical Information of China (English)

    陈君怡

    2011-01-01

    I have a happy fam_ly.Lookthis is my family photo.This is mydad.He often wears a pair Ofglasses(戴着一副眼镜I_This ismy mum.She is very pretty.Sheloves me very much.The little girlin a red blouse is me.I’m smiling(微笑).I love my family.

  6. Family therapy in the hospital treatment of children and adolescents.

    Science.gov (United States)

    Hyland, P S

    1990-01-01

    Psychiatric hospitalization is sometimes necessary for seriously symptomatic or out-of-control children and adolescents. In the past, individual therapists, hospital therapists, and family therapists thought that family therapy and individual hospital treatment could not be combined effectively. Today, however, family involvement, participation, and therapy are considered essential components of short-term and extended hospital treatment for young people. The author presents Bowen family systems theory as a basis for informed family therapy in a psychiatric hospital setting. Bowen therapy with patients and close family members elicits significant information, reduces tension, expands options, and facilitates solutions for young patients and their families.

  7. A REVIEW OF STATURE, BODY MASS AND MAXIMAL OXYGEN UPTAKE PROFILES OF U17, U20 AND FIRST DIVISION PLAYERS IN BRAZILIAN SOCCER

    Directory of Open Access Journals (Sweden)

    Cristiano Diniz Da Silva

    2008-09-01

    Full Text Available 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.

  8. [Familial hypercholesterolemia].

    Science.gov (United States)

    Turpin, G; Bruckert, E

    1999-12-01

    Familial hypercholesterolemia is characterized by a high plasma LDL-cholesterol level. The low-density particles are the end-product of the triglyceride-rich particles, i.e. VLDL, synthetized by the liver. These triglyceride-rich particles are subsequently transformed into intermediate density lipoprotein by the lipoprotein lipase and LDL after further triglyceride hydrolysis by the hepatic lipase. The LDL particles are taken up in all cells by the mean of the LDL receptor. A large body of evidence (including experimental, clinical, epidemiological data as well as the results of large trial with lipid lowering drugs) has accumulated to establish that these particles are one of the major causative factor of atherosclerosis and its complications. Two different mechanisms may be at work in the familial hypercholesterolemia: a mutation in the LDL receptor or a single mutation in the apolipoprotein B100. Specific therapeutic intervention should be undertaken to decrease the risk to develop cardiovascular disease, mainly coronary heart disease. The therapeutic intervention includes both a diet low in saturated fatty acids and cholesterol and statins which are now the first line therapy. Fibrates are proposed to those who do not tolerate statins and LDL-apheresis is associated to statin in the rare homozygous familial hypercholesterolemia.

  9. Short-rotation plantations

    Science.gov (United States)

    Philip E. Pope; Jeffery O. Dawson

    1989-01-01

    Short-rotation plantations offer several advantages over longer, more traditional rotations. They enhance the natural productivity of better sites and of tree species with rapid juvenile growth. Returns on investment are realized in a shorter period and the risk of loss is reduced compared with long term investments. Production of wood and fiber can be maximized by...

  10. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  11. Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

    Science.gov (United States)

    Renes, Judith S; Willemsen, Ruben H; Wagner, Anja; Finken, Martijn J J; Hokken-Koelega, Anita C S

    2013-10-01

    GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers. We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH. Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.

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

    Science.gov (United States)

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

    2016-01-01

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

  13. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    their basic needs. Children's needs for which only a family can provide include social support, socialization, and coping and life skills. Their self-esteem grows from being cared for, loved, and valued and feeling that they are part of a social unit that shares values, communicates openly, and provides companionship. Families transmit and interpret values to their children and often serve as children's connection to the larger world, especially during the early years of life. Although schools provide formal education, families teach children how to get along in the world. Often, efforts to discuss families and make recommendations regarding practice or policy stumble over disagreements about the definition of a family. The task force recognized the diversity of families and chose not to operate from the position of a fixed definition. Rather, the task force, which was to address pediatrics, decided to frame its deliberations and recommendations around the functions of families and how various aspects of the family context influence child rearing and child health. One model of family functioning that implicitly guided the task force is the family stress model (Fig 1). Stress of various sorts (eg, financial or health problems, lack of social support, unhappiness at work, unfortunate life events) can cause parents emotional distress and cause couples conflict and difficulty with their relationship. These responses to stress then disrupt parenting and the interactions between parent and child and can lead to short-term or lasting poor outcomes. The earlier these events transpire and the longer that the disruption lasts, the worse the outcomes for children. The task force favors efforts to encourage and support marriage yet recognizes that every family constellation can produce good outcomes for children and that none is certain to yield bad ones. (ABSTRACT TRUNCATED)

  14. El Cuestionario de Necesidades de los Familiares de Pacientes de Cuidados Intensivos (CCFNI versión breve: adaptación y validación en población española The short version of Critical Care Family Needs Inventory (CCFNI: adaptation and validation for a Spanish sample

    Directory of Open Access Journals (Sweden)

    S. Gómez Martínez

    2011-12-01

    the short version of the Critical Care Family Needs Inventory (CCFNI for a Spanish sample. The inventory was applied to 55 relatives of patients admitted to the ICU of the Hospital General de Castellón. After the removal of three items for different reasons, we performed an Exploratory Factor Analysis with the 11 remaining items to determine the factor structure of the questionnaire. We also made a descriptive analysis of the items, and internal consistency and construct validity were calculated through Cronbach´s alfa and Pearson correlation coefficient respectively. The results of the principal components factor analysis using varimax rotation indicated a four-factor solution. These four factors corresponded to: medical attention to the patient, personal attention to the relatives, communication between the family and the doctor, and perceived improvements in the Unit. The short version of CCFNI showed good internal consistency for both the total scale and factors. The results suggest that the CCFNI is a suitable measure for assessing the different needs presented by the relatives of patients admitted to an Intensive Care Unit, showing adequate psychometric properties.

  15. Complicações imediatas e tardias após cirurgia de reservatório ileal na polipose adenomatosa familiar Short-term and long-term postoperative complications after ileal pouch-anal anastomosis in familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2008-06-01

    Full Text Available RACIONAL: A retocolectomia total com confecção de reservatório ileal é cirurgia ideal para o tratamento do cólon e reto dos doentes com polipose adenomatosa familiar, no entanto pode estar associada a complicações no pós-operatório imediato e tardio. OBJETIVO: Estudar as complicações pós-operatórias da cirurgia do reservatório ileal na polipose adenomatosa familiar. MÉTODOS: Estudo retrospectivo de 69 doentes com polipose adenomatosa familiar submetidos a cirurgia de reservatório ileal no período de 1984 a 2006, pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O seguimento médio pós-operatório foi de 82 (2-280 meses. Dados de interesse: ocorrência de complicações no pós-operatório. RESULTADOS: A morbidade e mortalidade foram de 63,8% e 2,9%, respectivamente. As complicações mais freqüentes foram obstrução intestinal (17,4%, estenose da anastomose (15,9% e sepse pélvica (10,1%. Outras complicações foram isquemia aguda do reservatório ileal (4,3%, ileíte do reservatório (" pouchitis" (2,9% e fístulas relacionadas ao reservatório (2,9%. CONCLUSÕES: A morbimortalidade foi semelhante à da literatura e aceitável para uma cirurgia complexa como é a do reservatório ileal, realizada em dois tempos operatórios. A obstrução intestinal foi a complicação mais freqüente. Entretanto, isquemia do reservatório, " pouchitis" e sepse pélvica constituíram importantes complicações relacionadas à perda do reservatório ileal.BACKGROUND: Restorative proctocolectomy is the procedure of choice to treat familial adenomatous polyposis, however it can be associated to short-term and long-term postoperative complications. AIM: To evaluate the occurrence of complications related to the surgical treatment of familial adenomatous polyposis with ileal pouch technique. METHODS: Retrospective study of 69 patients with familial adenomatous polyposis after rectocolectomy

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

    Energy Technology Data Exchange (ETDEWEB)

    Saal, H.M. [Children`s Hospital Medical Center, Cincinnati, OH (United States); Johnson, R.C.; Carr, A.G.; Samango-Sprouse, C. [George Washington Univ. School of Medicine, Washington, DC (United States)] [and others

    1996-12-30

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

  17. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    Science.gov (United States)

    Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro

    2016-02-01

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene has been identified. We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost-effective tool for the diagnosis of clinically heterogeneous disorders such as SMED.

  18. Roles within the Family

    Science.gov (United States)

    ... Life Listen Español Text Size Email Print Share Roles Within the Family Page Content Article Body Families ... family unit, and which rights, privileges, obligations, and roles are assigned to each family member. In most ...

  19. Short Text Classification: A Survey

    Directory of Open Access Journals (Sweden)

    Ge Song

    2014-05-01

    Full Text Available With the recent explosive growth of e-commerce and online communication, a new genre of text, short text, has been extensively applied in many areas. So many researches focus on short text mining. It is a challenge to classify the short text owing to its natural characters, such as sparseness, large-scale, immediacy, non-standardization. It is difficult for traditional methods to deal with short text classification mainly because too limited words in short text cannot represent the feature space and the relationship between words and documents. Several researches and reviews on text classification are shown in recent times. However, only a few of researches focus on short text classification. This paper discusses the characters of short text and the difficulty of short text classification. Then we introduce the existing popular works on short text classifiers and models, including short text classification using sematic analysis, semi-supervised short text classification, ensemble short text classification, and real-time classification. The evaluations of short text classification are analyzed in our paper. Finally we summarize the existing classification technology and prospect for development trend of short text classification

  20. Integrating Family Resilience and Family Stress Theory.

    Science.gov (United States)

    Patterson, Joan M.

    2002-01-01

    The construct, family resilience, is defined differently by practitioners and researchers. This study tries to clarify the concept of family resilience. The foundation is family stress and coping theory, particularly the stress models that emphasize adaptation processes in families exposed to major adversities. (JDM)

  1. Family Relationships and Psychosocial Dysfunction Among Family Caregivers of Patients With Advanced Cancer.

    Science.gov (United States)

    Nissen, Kathrine G; Trevino, Kelly; Lange, Theis; Prigerson, Holly G

    2016-12-01

    Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal Support Evaluation List), and perceived caregiver burden (Caregiving Burden Scale). Three family types emerged: low-expressive, detached, and supportive. Analyses of variance with post hoc comparisons showed that caregivers of detached and low-expressive family types experienced lower levels of quality of life and perceived social support in comparison to supportive family types. The study identified supportive, low-expressive, and detached family types among caregivers of advanced cancer patients. The supportive family type was associated with the best outcomes and detached with the worst. These findings indicate that family function is related to psychosocial function of caregivers of advanced cancer patients. Therefore, paying attention to family support and family members' ability to share feelings and manage conflicts may serve as an important tool to improve psychosocial function in families affected by cancer. Copyright © 2016 American Academy of Hospice and Palliative Medicine. All rights reserved.

  2. Scottish Short Stone Rows

    Science.gov (United States)

    Ruggles, Clive L. N.

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

  3. Short bowel syndrome.

    LENUS (Irish Health Repository)

    Donohoe, Claire L

    2012-02-01

    The short bowel syndrome (SBS) is a state of malabsorption following intestinal resection where there is less than 200 cm of intestinal length. The management of short bowel syndrome can be challenging and is best managed by a specialised multidisciplinary team. A good understanding of the pathophysiological consequences of resection of different portions of the small intestine is necessary to anticipate and prevent, where possible, consequences of SBS. Nutrient absorption and fluid and electrolyte management in the initial stages are critical to stabilisation of the patient and to facilitate the process of adaptation. Pharmacological adjuncts to promote adaptation are in the early stages of development. Primary restoration of bowel continuity, if possible, is the principle mode of surgical treatment. Surgical procedures to increase the surface area of the small intestine or improve its function may be of benefit in experienced hands, particularly in the paediatric population. Intestinal transplant is indicated at present for patients who have failed to tolerate long-term parenteral nutrition but with increasing experience, there may be a potentially expanded role for its use in the future.

  4. The short toric polynomial

    CERN Document Server

    Hetyei, Gábor

    2010-01-01

    We introduce the short toric polynomial associated to a graded Eulerian poset. This polynomial contains the same information as the two toric polynomials introduced by Stanley, but allows different algebraic manipulations. The intertwined recurrence defining Stanley's toric polynomials may be replaced by a single recurrence, in which the degree of the discarded terms is independent of the rank. A short toric variant of the formula by Bayer and Ehrenborg, expressing the toric $h$-vector in terms of the $cd$-index, may be stated in a rank-independent form, and it may be shown using weighted lattice path enumeration and the reflection principle. We use our techniques to derive a formula expressing the toric $h$-vector of a dual simplicial Eulerian poset in terms of its $f$-vector. This formula implies Gessel's formula for the toric $h$-vector of a cube, and may be used to prove that the nonnegativity of the toric $h$-vector of a simple polytope is a consequence of the Generalized Lower Bound Theorem holding for ...

  5. Family Matters

    Directory of Open Access Journals (Sweden)

    Isabel de Riquer

    2011-04-01

    Full Text Available The scene is at the court of James I of Aragon in the mid-13th c., the place is the royal palace of Barcelona or any of the crown's other possessions, and the dramatis personae include the heir to the throne, prince Peire (future king Peire the Great, and the court's most famous troubadour, Cerverí de Girona (fl. 1259-85. Author of the largest corpus of any Occitan troubadour (114 poems, Cerverì distinguishes himself by the surprises and challenges he presents to his audience: an alba (the most openly erotic genre to the Virgin Mary, the Cobla in sis lengatges (Cobla in Six Languages, the apparently nonsensical Vers estrayn. Cerverì borrows equally from the folk-inspired Galician-Portuguese poetry and from the French tradition, including the chanson de malmariée, where a young woman bemoans being sold off by her family to an old man (gilos, "Jealous" and separated from her youthful doulz amis, some even praying for the death of their husband. Both within that tradition and among Cerverì's three chansons de malmariée, the Gelosesca stands out as "especially determined" to lose her husband, using every "solution" (prayer, black magic, potion or experimenta.

  6. Short Interest and Stock Returns

    OpenAIRE

    Paul Asquith; Pathak, Parag A.; Jay R. Ritter

    2004-01-01

    Using a longer time period and both NYSE-Amex and Nasdaq stocks, this paper examines short interest and stock returns in more detail than any previous study and finds that many documented patterns are not robust. While equally weighted high short interest portfolios generally underperform, value weighted portfolios do not. In addition, there is a negative correlation between market returns and short interest over our whole period. Finally, inferences from short time periods, such as 1988-1994...

  7. Short fiber reinforced thermoplastic blends

    NARCIS (Netherlands)

    Malchev, P.G.

    2008-01-01

    The present thesis investigates the potential of short fiber reinforced thermoplastic blends, a combination of an immiscible polymer blend and a short fiber reinforced composite, to integrate the easy processing solutions available for short fiber reinforced composites with the high mechanical perfo

  8. Short fiber reinforced thermoplastic blends

    NARCIS (Netherlands)

    Malchev, P.G.

    2008-01-01

    The present thesis investigates the potential of short fiber reinforced thermoplastic blends, a combination of an immiscible polymer blend and a short fiber reinforced composite, to integrate the easy processing solutions available for short fiber reinforced composites with the high mechanical perfo

  9. Short duration gamma ray bursts

    Indian Academy of Sciences (India)

    Patrick Das Gupta

    2004-10-01

    After a short review of gamma ray bursts (GRBs), we discuss the physical implications of strong statistical correlations seen among some of the parameters of short duration bursts (90 < 2 s). Finally, we conclude with a brief sketch of a new unified model for long and short GRBs.

  10. Short apraxia screening test.

    Science.gov (United States)

    Leiguarda, Ramon; Clarens, Florencia; Amengual, Alejandra; Drucaroff, Lucas; Hallett, Mark

    2014-01-01

    Limb apraxia comprises many different and common disorders, which are largely unrecognized essentially because there is no easy-to-use screening test sensitive enough to identify all types of limb praxis deficits. We evaluated 70 right-handed patients with limb apraxia due to a single focal lesion of the left hemisphere and 40 normal controls, using a new apraxia screening test. The test covered 12 items including: intransitive gestures, transitive gestures elicited under verbal, visual, and tactile modalities, imitation of meaningful and meaningless postures and movements, and a multiple object test. Interrater reliability was maximum for a cutoff of >2 positive items identifying apraxia on the short battery (Cohen's kappa .918, p 3 items (Cohen's kappa .768, p 2 was higher, indicating greater apraxia diagnosis agreement between raters at this cutoff value. The screening test proved to have high specificity and sensitivity to diagnose every type of upper limb praxis deficit, thus showing advantages over previously published tests.

  11. Oxytocin: a short review

    Directory of Open Access Journals (Sweden)

    P. F. Levay

    1993-07-01

    Full Text Available Oxytocin is traditionally associated with parturition and lactation. The similarity in oxytocin plasma levels in males and females implies a wider physiological role for the hormone. Oxytocin would now appear to be involved not only in milk ejection, but also in the production of milk. The hormone has further been shown to play a paracrine role in menstruation and to be of importance for normal fertilisation. Several endocrine modulatory as well as neurotransmitter effects have also been reported for oxytocin. The discovery of the role of oxytocin in central nervous system processes such as pain, anxiety, memory and learning has stimuluted a search for possible therapeutic applications of oxytocin in cases such as chronic pain and Alzheimer’s disease. A short review is presented of some of the biochemical and physiological aspects underlying the functions and possible therapeutic applications of oxytocin.

  12. Tendência secular em estatura em recrutas da Marinha do Brasil nascidos entre 1940 e 1965 Secular trends in the stature of Brazilian Navy recruits born from 1940 to 1965

    Directory of Open Access Journals (Sweden)

    Gilberto Kac

    1998-07-01

    Full Text Available O presente artigo apresenta dados sobre tendência secular em estatura em recrutas da Marinha do Brasil nascidos no período 1940-1965. A amostra final constituiu-se de 3.269 indivíduos com idade entre 18,00-18,99 anos. Foram realizadas as análises estatísticas: Anova (one-way e two-way, teste de Sheffe, regressão simples entre estatura e ano de nascimento e múltipla, controlando para escolaridade (coeficiente angular, e Qui-Quadrado. Os resultados demonstraram existência de um aumento progressivo em estatura da ordem de 0,1 cm/ano para o conjunto das regiões do País. Também se verificou tendência positiva em quase todas regiões e estratos de escolaridade. Em nível nacional, este aumento pode ser atribuído a melhorias em alguns indicadores sanitários. Argumenta-se que os resultados não podem ser diretamente extrapolados para a população brasileira como um todo, uma vez que os jovens que se alistam na Marinha apresentam um perfil antropométrico e sócio-econômico diferenciado daquele da população geral.The present paper reports data on secular trends in the stature of Brazilian Navy recruits born from 1940 to 1965. The final sample included 3269 individuals aged 18.00-18.99. Statistics performed were: Anova (one-way and two-way, Sheffe test, simple linear regression between stature and year of birth, and multiple linear regression adjusting for level of schooling (beta coefficient and chi-square. Results indicated a progressive growth trend in stature of 0.1 cm/yr. for the country as a whole. The trend was also observed for nearly all regions and two out of three levels of schooling and can be explained by improvement in some of the country's health indicators. One important characteristic was a higher level of schooling observed among Navy recruits, suggesting that these individuals represent a highly select group, and that therefore data on the Navy cannot be applied directly to the Brazilian population as a whole.

  13. Keynes, family allowances and Keynesian economic policy

    OpenAIRE

    Pressman, Steven

    2014-01-01

    This paper provides a short history of family allowances and documents the fact that Keynes supported family allowances as early as the 1920s, continuing through the 1930s and early 1940s. Keynes saw this policy as a way to help households raise their children and also as a way to increase consumption without reducing business investment. The paper goes on to argue that a policy of family allowances is consistent with Keynesian economics. Finally, the paper uses the Luxembourg Income Study to...

  14. Family and family therapy in Russia.

    Science.gov (United States)

    Bebtschuk, Marina; Smirnova, Daria; Khayretdinov, Oleg

    2012-04-01

    This article represents the information about family and family therapy in the context of culture, traditions and contemporary changes of social situations in Russia. The legislation of family rights are mentioned within items about marriage and family in the Constitution, Civil Code and Family Code of the Russian Federation which has changed during recent years. The definition of family and description of family structure are given through the prism of the current demographic situation, dynamics of statistics of marriage and divorce rates, mental disorders, disabilities and such phenomena as social abandonment. The actual curriculum, teaching of family therapy and its disadvantages, system of continuous education, supervision and initiatives of the Institute of Integrative Family Therapy in improvement of preparing of specialists who can provide qualified psychosocial assistance for the family according to the actual needs of society are noted. The directions of state and private practice of family counselling and therapy both for psychiatric patients and medical patients, for adults and children in a family systemic approach are highlighted with an indication of the spectrum of techniques and methods used by Russian professionals. The main obstacles and perspectives of development of family therapy in Russia are summarized.

  15. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.

    Science.gov (United States)

    Ester, Wietske A; van Duyvenvoorde, Hermine A; de Wit, Caroline C; Broekman, Alexander J; Ruivenkamp, Claudia A L; Govaerts, Lutgarde C P; Wit, Jan M; Hokken-Koelega, Anita C S; Losekoot, Monique

    2009-12-01

    Small for gestational age (SGA)-born children comprise a heterogeneous group in which only few genetic causes have been identified. To determine copy number variations in 18 growth-related genes in 100 SGA children with persistent short stature. Copy number variations in 18 growth-related genes (SHOX, GH1, GHR, IGF1, IGF1R, IGF2, IGFBP1-6, NSD1, GRB10, STAT5B, ALS, SOCS2, and SOCS3) were determined by an "in house" multiplex ligation-dependent probe amplification kit. The deletions were further characterized by single-nucleotide polymorphism array analysis. Two heterozygous de novo insulin-like growth factor 1 receptor (IGF1R) deletions were found: a deletion of the complete IGF1R gene (15q26.3, exons 1-21), including distally flanking sequences, and a deletion comprising exons 3-21, extending further into the telomeric region. In one case, serum IGF-I was low (-2.78 sd score), probably because of a coexisting growth hormone (GH) deficiency. Both children increased their height during GH treatment (1 mg/m(2) per day). Functional studies in skin fibroblast cultures demonstrated similar levels of IGF1R autophosphorylation and a reduced activation of protein kinase B/Akt upon a challenge with IGF-I in comparison with controls. IGF1R haploinsufficiency was present in 2 of 100 short SGA children. GH therapy resulted in moderate catch-up growth in our patients. A review of the literature shows that small birth size, short stature, small head size, relatively high IGF-I levels, developmental delay, and micrognathia are the main predictors for an IGF1R deletion.

  16. Bequeathing Family Continuity.

    Science.gov (United States)

    Spanier, Graham B.

    1989-01-01

    Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

  17. Family Reading Night

    Science.gov (United States)

    Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

    2007-01-01

    This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

  18. Family Factors in Small Family Business Growth

    National Research Council Canada - National Science Library

    Jim Cater; Marilyn Young

    2016-01-01

    .... We suggest that while all three patterns of small family business growth may lead to individual company success and sustainability, businesses with units in multiple trade areas may be most adept at managing the six family factors.

  19. Growth potential of the family camping market

    Science.gov (United States)

    W.F. LaPage; W.F. LaPage

    1973-01-01

    A study of the camping market's short-term growth potential, based upon interviews with the heads of 2,003 representative American households. The study estimates the size of the potential camping market and divides it into three segments: those families with a high, medium and low propensity to become campers. The developed camping market is also divided into an...

  20. Deaf Teenagers and Family Alcohol Problems.

    Science.gov (United States)

    Stevens, Raymond P.

    1987-01-01

    Deaf teenagers have more trouble coping with the effects of parental alcohol abuse than do hearing teenagers. Suggestions are made for helping the deaf teenager and other family members deal with these problems, especially in potentially violent situations. Two short case studies are provided to illustrate intervention methods and outcomes.…

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

    Directory of Open Access Journals (Sweden)

    Christian Guilleminault

    2016-07-01

    Full Text Available 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.

  2. Evolução intergeracional da estatura no Estado de Pernambuco, Brasil, entre 1945 e 2006: 2 - aspectos analíticos Intergenerational evolution of stature in Pernambuco State, Brazil (1945-2006: 2 - analytical aspects

    Directory of Open Access Journals (Sweden)

    José Natal Figueiroa

    2012-08-01

    Full Text Available Utilizando-se modelos de regressão multinível, foram identificados fatores relacionados à evolução estatural de pessoas residentes em Pernambuco, Brasil, em 2006 e nascidas a partir de 1945. Os dados provêm de dois inquéritos estaduais de base populacional. No modelo final de cada grupo etário, ano de nascimento, sexo, escolaridade, renda e residência em área urbana ficaram positivamente associadas ao crescimento estatural dos adultos, bem como de crianças e adolescentes de 5 a 19 anos. Nos menores de cinco anos, além dessas variáveis, também ficaram positivamente associados o peso ao nascer e a realização de pré-natal, enquanto a ocorrência de diarreia nas últimas duas semanas anteriores à entrevista mostrou associação negativa. Os resultados do estudo mostram que o crescimento estatural foi mais favorecido em ambientes nos quais predominaram melhores condições socioeconômicas e ambientais.This study used multivariate regression models to identify factors associated with the height trend in residents of Pernambuco State, Brazil, in 2006, born from 1945 onward. The data were from two population-based statewide surveys. In the final model for each age bracket, year of birth, gender, schooling, and residence in urban areas were positively associated with stature in adults, as well as in children and adolescents 5 to 19 years of age. In children under five years, in addition to these variables, birth weight and prenatal care were also positively associated, while diarrhea in the two weeks prior to the interview showed a negative association. The findings show that stature was favored by settings with better socioeconomic and environmental conditions.

  3. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Joutel, A.; Ducros, A.; Delrieu, O.; Maziaceck, J.; Tournier-Lasserve, E. [INSERUM U25, Paris (France); Vahedi, K. [INSERUM U25, Paris (France)]|[Hopital St. Antoine (France); Bousser, M.G. [Hopital St. Antoine, Paris (France); Ponsot, G. [Hopital St. Vincent de Paul, Paris (France); Gouttiere, F. [Hopital Necker-Enfants Malades, Paris (France); Labauge, P. [Clinique Neurologique du C.H. et U. Montpellier-Nimes (France); Mancini, J. [Hopital de la Timone, Marseille (France)] [and others

    1994-12-01

    Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was >.95 in the first two families and <.01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

  4. Consuming Family Dinner Time

    National Research Council Canada - National Science Library

    Kelli Gutierrez; Linda Price; Eric Arnould

    2008-01-01

      Our study examines whether and how family dinners are embedded in the centrifugal and centripetal dynamics of everyday family life, the diversity of meanings they have for families and the intentions...

  5. Family Adjustment to Aphasia

    Science.gov (United States)

    ... Public / Speech, Language and Swallowing / Disorders and Diseases Family Adjustment to Aphasia Richard S. was a senior manager ... It also presents a great challenge to the family. There may be tension among family members and ...

  6. Improving Family Communications

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Listen Español Text Size Email Print Share Improving Family Communications Page Content Article Body How can I ...

  7. Normal Functioning Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

  8. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  9. Branding a family business

    OpenAIRE

    Pohjola, Matti

    2016-01-01

    This master’s thesis main object was to understand better the very little researched topic: branding a family business. The main aim was to seek the values used behind family business that are the family values used in the brand and how the branding has been implemented in a family company. A qualitative method was chosen for this research for an interpretative analysis of the subject. Five family companies were chosen for the interviews. All these family companies are known Fi...

  10. Family Health History and Diabetes

    Science.gov (United States)

    ... Diabetes Diabetes Risk Test Family Health History Quiz Family Health History Quiz Family health history is an ... health problems. Four Questions You Should Ask Your Family About Diabetes & Family Health History Knowing your family ...

  11. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  12. Intrapersonal and Interpersonal Models: Blending Gestalt and Family Therapies

    Science.gov (United States)

    Hatcher, Chris

    1978-01-01

    Family therapy is primarily focused upon interpersonal or transactional issues. Gestalt therapy is particularly well suited for short term work on intrapersonal and boundary issues. This paper shows how the selective integration of the two approaches provides a significant, new dimension in the development of family therapy. (Author)

  13. Family psychology and family therapy in Japan.

    Science.gov (United States)

    Kameguchi, K; Murphy-Shigematsu, S

    2001-01-01

    The development of family psychology and family therapy in Japan has occurred mostly since the 1980s. This development was originally activated by the major social issue in contemporary Japan of school refusal, in which more than 127,000 children either overtly refuse to or claim that they cannot go to school. From a family perspective, this problem is analyzed as it relates to the confusion that children experience from unbalanced and unclear boundaries in family relations or "membranes." An approach to family therapy that adapts systems theory and integrates a clay sculpting medium has been developed to work with Japanese families confronting this problem. The design and implementation of preventative family psychology programs applied at the community level are also an important part of the future development in these fields.

  14. Family doctors' involvement with families in Estonia

    Directory of Open Access Journals (Sweden)

    Lember Margus

    2004-10-01

    Full Text Available Abstract Background Family doctors should care for individuals in the context of their family. Family has a powerful influence on health and illness and family interventions have been shown to improve health outcomes for a variety of health problems. The aim of the study was to investigate the Estonian family doctors' (FD attitudes to the patients' family-related issues in their work: to explore the degree of FDs involvement in family matters, their preparedness for management of family-related issues and their self-assessment of the ability to manage different family-related problems. Methods A random sample (n = 236 of all FDs in Estonia was investigated using a postal questionnaire. Altogether 151 FDs responded to the questionnaire (response rate 64%, while five of them were excluded as they did not actually work as FDs. Results Of the respondents, 90% thought that in managing the health problems of patients FDs should communicate and cooperate with family members. Although most of the family doctors agreed that modifying of the health damaging risk factors (smoking, alcohol and drug abuse of their patients and families is their task, one third of them felt that dealing with these problems is ineffective, or perceived themselves as poorly prepared or having too little time for such activities. Of the respondents, 58% (n = 83 were of the opinion that they could modify also relationship problems. Conclusions Estonian family doctors are favourably disposed to involvement in family-related problems, however, they need some additional training, especially in the field of relationship management.

  15. Newnes short wave listening handbook

    CERN Document Server

    Pritchard, Joe

    2013-01-01

    Newnes Short Wave Listening Handbook is a guide for starting up in short wave listening (SWL). The book is comprised of 15 chapters that discuss the basics and fundamental concepts of short wave radio listening. The coverage of the text includes electrical principles; types of signals that can be heard in the radio spectrum; and using computers in SWL. The book also covers SWL equipment, such as receivers, converters, and circuits. The text will be of great use to individuals who want to get into short wave listening.

  16. An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

    Science.gov (United States)

    Lybaek, Helle; Ørstavik, Karen Helene; Prescott, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar

    2009-07-01

    In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was detected. It was initially assumed that the duplication involved the kisspeptin receptor gene, GPR54, known to stimulate induction of puberty, but more refined duplication mapping excluded this possibility. In an attempt to further understand the genotype-phenotype correlation, global gene expression was measured in skin fibroblasts. The overall expression pattern was quite similar to controls, and only about 25% of the duplicated genes had an expression level that was increased by more than 1.3-fold, with no obvious changes that could explain the precocious puberty. The proband's mother carried a balanced between-arm insertion of the duplicated segment that resembled a pericentric inversion. The same insertion was found in several other family members, including one who had lost a daughter with severe mental retardation and menarche at the age of 10 years. Another close relative was severely mentally retarded, but neither dysmorphic nor microcephalic. His phenotype was initially ascribed to a presumed cryptic chromosome 19 imbalance caused by the 19p-into19q insertion, but subsequent array-CGH detected a 3.9-Mb deletion of 2q23.3q24.1. This novel microdeletion involves seven genes, of which FMNL2, a suggested regulator of Rho-GTPases, and NR4A2, an essential gene for differentiation of dopaminergic neurons, may be critical genes for the proposed 2q23q24 microdeletion syndrome.

  17. The miR-10 microRNA precursor family

    DEFF Research Database (Denmark)

    Tehler, Disa; Høyland-Kroghsbo, Nina Molin; Lund, Anders H

    2011-01-01

    The miR-10 microRNA precursor family encodes a group of short non-coding RNAs involved in gene regulation. The miR-10 family is highly conserved and has sparked the interest of many research groups because of the genomic localization in the vicinity of, coexpression with and regulation of the Hox...... gene developmental regulators. Here, we review the current knowledge of the evolution, physiological function and involvement in cancer of this family of microRNAs....

  18. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    2013-01-01

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

  19. Family planning and family vision in mothers after diagnosis of a child with autism spectrum disorder.

    Science.gov (United States)

    Navot, Noa; Jorgenson, Alicia Grattan; Vander Stoep, Ann; Toth, Karen; Webb, Sara Jane

    2016-07-01

    The diagnosis of a child with autism has short- and long-term impacts on family functioning. With early diagnosis, the diagnostic process is likely to co-occur with family planning decisions, yet little is known about how parents navigate this process. This study explores family planning decision making process among mothers of young children with autism spectrum disorder in the United States, by understanding the transformation in family vision before and after the diagnosis. A total of 22 mothers of first born children, diagnosed with autism between 2 and 4 years of age, were interviewed about family vision prior to and after their child's diagnosis. Grounded Theory method was used for data analysis. Findings indicated that coherence of early family vision, maternal cognitive flexibility, and maternal responses to diagnosis were highly influential in future family planning decisions. The decision to have additional children reflected a high level of adaptability built upon a solid internalized family model and a flexible approach to life. Decision to stop childrearing reflected a relatively less coherent family model and more rigid cognitive style followed by ongoing hardship managing life after the diagnosis. This report may be useful for health-care providers in enhancing therapeutic alliance and guiding family planning counseling.

  20. Family Intervention in First-Episode Psychosis

    Directory of Open Access Journals (Sweden)

    Anvar Sadath

    2015-11-01

    Full Text Available Family interventions have produced benefits on clinical and family outcomes in long standing psychosis. However, little is known about the efficacy of such interventions in the early stages of psychosis. This article reviews published research over the last two decades on family intervention in first-episode psychosis. Electronic databases, such as PubMed, PsycINFO, and ScienceDirect, have been systematically searched. In addition, an exhaustive Internet search was also carried out using Google and Google Scholar to identify the potential studies that evaluated family interventions in first-episode psychosis. We have identified seven reports of five randomized controlled trials (RCTs and five non-randomized and uncontrolled studies of family intervention. Our review on 12 reports of family intervention studies has shown mixed effects on outcomes in first-episode psychosis. Most of the reports showed no added benefits or very short-term benefits on primary clinical or family outcome variables. There is a dearth of family intervention studies in first-episode psychosis. More RCTs are needed to reach reliable conclusions.