Stature Research Articles

The association of adult height with the risk of cardiovascular disease and cancer in the population of Sardinia.

The relationship between body height and the risk of non‒communicable diseases such as cardiovascular disease and cancer has been the subject of much debate in the epidemiological literature. Concerns have recently arisen over spurious associations due to confounding factors like birth cohort, especially in the context of epidemiological transition. The population of Sardinia represents an interesting case study, as the average physical stature of inhabitants was the lowest recorded in Europe until a few decades ago. In this population we tested whether height is an independent risk factor for cardiovascular disease and cancer. We analysed the stature of 10,427 patients undergoing endoscopy for any reason, for whom a detailed clinical history of cardiovascular disease and/or malignancies had been documented. Poisson regression modelling was used to test the association between stature and disease risk. When patients were subdivided according to sex and height tertiles, the risk of cardiovascular disease proved significantly greater for subjects in the lowest tertile irrespective of sex (men: 1.87; 95%CI 1.41‒2.47; women: 1.23; 95%CI 0.92‒1.66) and smaller for those in the highest tertile (men: 0.51; 95%CI 0.35‒0.75; women: 0.41; 95%CI 0.27‒0.61). However, after adjusting the risk for birth cohort and established risk factors, it mostly resulted in non-significant values, although the overall trend persisted. Similar results were obtained for all-cancer risk (relative risk for men and women in the lowest tertile: 1.44; 95%CI 1.09–1.90 and 1.17; 95%CI 0.93–1.48, in the highest tertile: 0.51; 95%CI 0.36–0.72 and 0.62; 95%CI 0.47–0.81, respectively) as well as for some of the most common types of cancer. We concluded that the risk of developing cardiovascular disease and malignancies does not vary significantly with stature in the Sardinian population, after adjusting for birth cohort and more obvious risk factors.

Implication of methylation of the short stature homeobox gene 2 and runt related transcription factor-3 genes in pathogenesis of lung cancer

Objective To investigate the significance of the methylation of the short stature homeobox gene 2 (SHOX2) and runt related transcription factor-3 (Runx3) genes in the development of non-small cell lung cancer (NSCLC) in Guangxi. Methods Methylation specific polymerase chain reaction (MSP) was used to detect the methylation rate of SHOX2 and Runx3 gene promoter regions in 70 cases of cancer tissues, 60 cases of normal tissues adjacent to cancer and 30 cases non-lung cancer tissues. Results 70 cases of lung cancer group, 60 cases of normal tissue adjacent to carcinoma, 30 cases of benign lung cancer resection tissues SHOX2 gene promoter region methylation detection rate was 68.57% (48/70), 8.33% (5/60), 6.67% (2/30), the three genes methylation detection rate comparison, difference was statistically significant (χ2=64.530, P=0.000). RUNX3 gene promoter region methylation detection rate 62.86% (44/70), 5.00% (3/60), 3.33% (1/29), the three genes methylation detection rate comparison, difference was statistically significant (χ2=63.350, P=0.000). SHOX2 gene promoter region methylation and patients with differentiation (χ2=8.672, P=0.003), lymph node metastasis related obviously (χ2= 6.481, P=0.011). RUNX3 gene promoter methylation and patients pathologic classification (χ2=4.749, P=0.029) and clinical stage (χ2=7.035, P=0.008), degree of differentiation (χ2=9.341, P=0.002), lymph node metastasis related obviously (χ2=5.240, P=0.022). Conclusion The promoter methylation of SHOX2 and Runx3 genes is associated with NSCLC. Key words: Lung cancer; The short stature homeobox gene 2 gene; Runt related transcription factor-3 gene; Methylation specific polymerase chain reaction; Gene methylation

Clinical and molecular genetic study of Cockayne syndrome accompanied with nephrotic syndrome in a family

Objective To analyze the clinical and genetics characteristics in twin sisters with Cockayne syndrome. Methods The identical twin sisters visited the Affiliated Children′s Hospital of Capital Institute of Pediatrics in December 2016.The clinical presentations, course of treatment, blood biochemistry, metabolic screening and whole exon sanger sequencing were analyzed. Results These two patients were referred at 4 years and 5 months of age for growth failure and developmental delay.The younger sister manifested short stature (only 97 cm), low weight (14.0 kg) and little head circumference (43 cm), and the elder sister manifested short stature (only 98 cm), low weight (15.5 kg) and little head circumference (43 cm). They were born with out adverse event, and then they kept the head up at 8 months of age.They could sit at 10 months of age, but they had not acquired independent walking ability up till now.They spoke their first words at 2 year of age, and made little progress after that.They had a variety of abnormal clinical features including cognitive deficits, microcephaly, thin pointy nose, sunken eyes, small chin, photosensitive rash, hearing impairment, volitional tremor and hypermyotonia.They had been diagnosed as nephrotic syndrome at 4.5 years old, with little response to prednisone.The renal biopsy revealed minimal change nephropathy.Cerebrum and cerebellum atrophy was detected by magnetic resonance image scanning.Two heterozygous ERCC8 mutations in both patients, c.394_398delTTACA and large fragment deletion, were identified in the patient.The c. 394_398delTTACA mutation originated from his father.The exon 4 deletion from his mother caused the defection of the protein. Conclusions Cockayne syndrome is a rare autosomal recessive disease.It is not only characterized by developmental delay, microcephaly, sunken eyes, photosensitive rash and auditory abnormalities, but also can be involved in nephrotic syndrome.Cockayne syndrome can be caused by compound heterozygous mutation, including c. 394_398delTTACA and a large fragment deletion of exon 4 in ERCC8. Key words: Cockayne syndrome; Nephrotic syndrome; ERCC8 gene; Microcephaly

For Debate: Combination Growth Hormone and Insulin-Like Growth Factor-I Therapy for Childhood Growth Disorders: Prime Time or Too Much Dime?

Although metabolic outcomes may be aided by dual therapy with GI and IGF-I, the one published study of the combination approach to treat children with non-GH-deficient short stature showed only a meager additional height response compared to that achieved with GH alone.

A howl from the grave: Osteological analysis of 12th‐ to 15th‐century dogs from Santa Ana, Manila, Philippines

AbstractThis research article examines the dog remains recovered from the archaeological excavations of a 12th to 15th‐century CE grave site in Santa Ana district of Manila, Philippines. Of particular interest in this study is the articulated dog remains recovered beside a child burial, wherein spinal deformities were observed. Through osteometry and physical examination of individual bones, with consideration of their archaeological contexts and inference from ethnohistorical texts, the study was able to provide a general picture of the physical stature of dogs and their social significance within the human communities in Manila during the period known as the Protohistoric period.

Total hip arthroplasty in skeletal dysplasia

This study presents the results of 38 hip prostheses in 24 people of short stature (under 152 cm). A retrospective clinical and radiological study recording the diagnosis, age at reconstruction, height, weight, type of prostheses, length of follow-up, radiological appearances and patient satisfaction was performed. Harris hip scores were used to assess activities of daily living (1). All patients were under 152cm and their diagnoses included achondroplasia, spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, developmental dysplasia of the hip and juvenile chronic arthritis. The mean height of these patients was 135 cm (range: 109cm to 150cm). The mean age was 38 years (range: 19 to 75 years) with mean follow-up 67 months (range: 12 to 406 months). Only one patient, who is now aged 69 years (though 65 years at revision surgery), has required revision surgery to date. The results were excellent for 33 hips (Harris hip score between 80–100), good in three (Harris hip score between 70–80), satisfacto...

Estimation of stature from hand dimensions in North Saudi population, medicolegal view

Introduction: Estimation of individual's stature is an important parameter in the field of forensic anthropology. There is a scarcity of literature on the estimation of stature from hand dimensions among Saudi populations. Aim: To setup standard formulae to estimate stature from hand dimensions in Saudi population. Subjects and Methods: Three hundred and fifty participants in 20–30 years' age group were incorporated into a cross-sectional study. The research population included 150 males and 150 females as a study group, and 50 participants as a control group to test the accuracy of the formulae. Nine measurements of different hand dimensions (hand length, palm length, handbreadth, maximum handbreadth, and five phalanges lengths) and statures were taken. The simple linear regression equations and multiple linear regression equations with the explanatory variables were suggested as a statistical model to clarify the total variation in stature. Results: Statistical analysis indicated that the bilateral variations were insignificant for all the measurements (P > 0.05). The correlation between the stature and different parameters studied in males and females were found to be positive and statistically highly significant (P

Homeostasis and Disorder of Musculoskeletal System.Diagnosis and Treatment of Congenital Musculoskeletal Diseases.

Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has much improved the prognosis of the patients affected with severe forms of the disease. To treat the severe short stature in achondroplasia, drugs targeting the fibroblast growth factor receptor 3(FGFR3)-mediated signal are in development for clinical use.

Study of Correlation of Foot Length and Foot Breadth with Stature in Humans

Study of Correlation of Foot Length and Foot Breadth with Stature in Humans

"Little Brown Brothers": Height and the Philippine–American Colonial Encounter (1898–1946)

This article looks at how scientific racism, biomedicine, public health, sports, and a nascent bureaucracy intersected in the making of height (human stature) as an important attribute of individuals and populations during the Philippine–American colonial encounter. In relation to the “tall” Americans, Filipinos were depicted and problematized as “short,” and the attention to children’s growth, the rise of sports, and the establishment of a bureaucracy all contributed to making height a measure of health and a parameter of inclusion (and exclusion) in various domains of society. KEYWORDS: HEIGHT • ANTHROPOMETRY • PUBLIC HEALTH • COLONIALISM • PHILIPPINES

The applicability of the Carrea’s method for human height estimation through lower and upper teeth in dental models

Objective: To evaluate the applicability of the Carrea method, in its original and modified forms, in estimating human stature. Methods: This was a cross-sectional study carried out in 31 pairs of gypsum models of undergraduate Dental students. Each lower model was analyzed using the original Carrea Method (1939), and the modified method (LIMA, 2011) was used for the analysis of upper teeth model. Data were analyzed through descriptive and inferential statistics (α=5%). Results: By using the original method, the estimated height included the actual height in 51.6% (n = 16), with concordance of 38.7% (n = 12) for quadrant 3 and 32.3% (n = 10) for quadrant 4. Similar overall agreement was observed for the modified method (51.6%; n = 16), with 35.5% (n = 11) and 32.3% (n = 10) concordancies for quadrants 1 and 2, respectively. There was no significant difference between sexes. The height was underestimated by the original method in 58.1% (n = 18), regardless of the analyzed quadrant, being overestimated in 3.2% (n = 1) in quadrant 3, and 9.7% (n = 3) in quadrant 4. The modified method underestimated the height in 45.2% (n = 14) for quadrant 1, and in 38.7% (n = 12) for the quadrant 2. The overestimation occurred in 19.4% (n = 6) in quadrant 1 and 29.0% (n = 9) in quadrant 2. Low correlation coefficients were obtained between the real values and the estimated ones. Conclusions: Both orginal and modified Carrea methods presented questionable applicability, and should be used carrefully.

Stature and the Neolithic transition– Skeletal evidence from southern Sweden

Human stature is a variable often used to study health changes in present and past populations. In this study possible differences in stature from the late Mesolithic-Early Bronze Age, based on skeletal data from southern Sweden, are investigated. The sample comprises n=203 femora where maximum lengths were evaluated using non-parametric testing. Sex was assessed primarily using criteria on the pelvis and secondarily through statistical testing of sexual dimorphism. Measurements of the vertical diameter of the femoral head, femoral anterior-posterior and medial-lateral were evaluated using an iterative discriminant analysis. Results confirm a significant difference in femoral length between archaeological culture groups for both sexes. Male femoral lengths evidence a significant increase in the Battle Axe Culture that remained high throughout the Late Neolithic and Early Bronze Age. Only a minor increase in male stature associated with the transition to agriculture could be noticed; stature then remained constant until the Pitted Ware Culture. There was no change in female stature following the Neolithic transition. Female stature then increased gradually throughout the Neolithic, but decreased somewhat in the later part of the Late Neolithic-Early Bronze Age. These findings suggest that the transition to agriculture did not affect health in any profound way, and that the high stature in the BAC-Early Bronze Age are dependent on a mix of genetic influx, population increase and good nutrition and health, possibly linked to an intensification and consolidation of the agro-pastoral economy.

Estimation of stature from hand length and foot length in Nagpur region of Maharashtra State

Aim and Objectives: Stature (body height) is an important and useful anthropometric parameter for identification of an individual. The present study was undertaken to set up a standard formulae to estimate stature from hand length and foot length in medical students of Nagpur region of Maharashtra state. Method: Four hundred healthy and normal adult medical students comprising of 200 males and 200 females in 18-25 years age group were included in the study. The hand length and foot length were measured independently on left and right side of each individual using a Sliding caliper and spreading calipers respectively. Stature of individuals was measured with the help of a Stadiometer. Results: The paired sample t test showed that the statistical difference between males and females on both sides was highly significant for all the measurements (p < 0.0001). The correlation between stature and various parameters studied in both the sexes were found to be positive and statistically highly significant (p < 0.0001). The correlation coefficient of foot length in both males and females together depicts higher correlation with stature than hand length with highest correlation coefficient 0.87. The correlation between stature and hand length as well as stature and foot length was higher in females than males. Linear and multiple regression equations for stature estimation were calculated separately for males and females as well as for both sexes together. Conclusion: The significant positive correlations between the explanatory variables and stature indicate that these variables can be successfully used to predict stature.

Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine.

Achondroplasia (ACH) is a rare, genetically determined health condition. Patients suffer from disproportional short stature and multiple physical and functional impairments as well as socioemotional problems. Despite the burden of disease, only few studies focus on health-related quality of life (HrQoL) of young ACH patients. In a series of studies, the BKMF e.V. in cooperation with the UKE studied ACH patients' and parents' experience of HrQoL, their responses to HrQoL questionnaires and their evaluation of a HrQoL based intervention. Both qualitative and quantitative approaches were used. Psychometrically appropriate instruments were identified and the wellbeing of young patients with ACH was analyzed showing no difference from a healthy norm sample using generic instruments. However, disease-specific instruments showed discrepancies between patients with proportional and disproportional short stature. Still, results show a significant effect by age and the evaluation of the counselling concept reveals that young ACH-patients especially benefit from such intervention.

Self-Awareness of Growing Up with Short Stature Structured Social Care for Children.

In this article two short statured young women talk about their particular challenges when growing up. To be short means, you are always the centre of attention with advantages and disadvantages. At the age of 30 years both resumed, it balances itself out. Attention may be positive but is sometimes exhausting and offending to always be the middle of attention. In order to cope with today's achievement-orientated society BKMF e.V. developed for children and adolescents with restricted growth a structured program how to cope with the challenges and barriers of today's life. Exchange of experiences as well as transfer of knowledge gives them support for self-determination in life. Especially for short-statured adolescents, their brothers and sisters, the BKMF e.V. has been holding different seminars giving information on job training, gaining skills as well as recreational activities.

Patients with Silver-Russell-Syndrome from Birth to Adulthood: Diagnosis, Development and Medical Care.

Silver-Russell syndrome (SRS) is a rare congenital disorder, characterized by a wide spectrum of signs and symptoms, which vary significantly between affected individuals. The understanding of the genetic basis of the phenotype has advanced greatly during the past decades. Together with the typical clinical picture intrauterine growth retardation and severe short stature are the key features. Failure to thrive in conjunction with frequent feeding problems in infancy and early childhood are a major challenge for the parents. In parallel to the genetic research, medical care of these children improved dramatically, and this article describes the most important issues. Treatment of short stature with rhGH as part of the approved SGA indication is able to improve growth and final height in these children. This article reviews some of the major aspects related to some of these issues.

Comparison of Nutritional Status and Socio-demographic Condition among the Children of Bengali, Santhal & Oraon Community in North-Western Part of Bangladesh

Bangladesh is a densely populated country of South East Asia that has a rich tribal presence. It has 1.2 million tribal people which is just above one percent of the total population which belong to in about 58 tribal groups who are living in different parts of the country. The Study was conducted at the Rajshahi Division, in the Naogaon and Rajshahi district at different villages where the Santali and Oraon people lived from their ancestors. Information on their socio-demography, health, disease condition and other related information were collected through a pre-planned questionnaire and the collected data were analyzed to reveal the desire status through Excel and SPSS. The survey covered a random sample of 150 children among three groups (Bengali, Santhal and Oraon). This investigation deals with the assessment of nutritional status and socio-demographic condition through anthropometric indices of children. Most of the child of study area was dropped out before completing primary level education and high number of Bengali respondent of this area completed education from high school and College. Socioeconomic conditions and nutritional status of Bengalis were better than the tribal. Majority of the tribal were thin and lean with medium to short stature. The study showed that females are more underweight then the males. Normal weight group of Bengali male children (57%) was higher than other ethnic groups Santhal (33%) and Oraon male children (30%). This scenario was also same to female. Food adequacy was much lower in Oraon group than Bengali and Santhal. Tribal children were unable to take adequate and nutritional essential food. Only 44% of Santhal and 36% of Oraon intake adequate food as needed for them where 92% of Bengali child took adequate food. Diseases rate was higher in Santali children (40%), than Bengali (16%) and Oraon (38%). The outcome of this study will give an authentic view about the Santhal and Oraon children’s current nutritional status and health condition which may draw the attention of policy makers, health workers and social workers to take necessary steps as soon as possible for ensuring their basic needs for better livelihood.

In Memoriam: Gerhard Levy, PharmD

In Memoriam: Gerhard Levy, PharmD

Young Thai sisters with growth hormone insensitivity or Laron syndrome

Background: Growth hormone insensitivity (GHI) or Laron syndrome can result from GH receptor (GHR) or postreceptor defects, such as in GH binding or transduction, or insulin-like growth factor 1 (IGF-1) synthesis. Multiple defects in GHI have been reported in cohorts from the Middle East, Ecuador, and the Mediterranean, but rarely reported from Southeast Asia. Methods: Genomic DNA was isolated from peripheral blood leukocytes of young Thai sisters with severe short stature. Coding exons, including the intronic boundaries of the GHR were amplified from genomic DNA by PCR, and products were purified and sequenced. Serum GH, IGF-1, and IGF binding protein-3 were assayed immunometrically. Results: We found an extreme GHI phenotype and a homozygous mutation in exon 7 of GHR. Conclusions: This mutation can cause a new donor splice site and interfere with mRNA splicing. To our knowledge, these are first cases of Laron syndrome in Thais confirmed by genotyping. Keywords: Growth hormone, growth hormone insensitivity, growth hormone receptor, insulin-like growth factor-1

Clinical-grade gene curation strategy in the development of short stature related gene panel by next generation sequencing

Objective Design short stature panel with gene curration strategy. Methods The gene curation process was introduced in detail. The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence. This process in short stature panel design and its effect on gene selection was further demonstrated. Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705. The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients. The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate. Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.(Chin J Lab Med, 2017, 40: 500-504) Key words: Growth disorders; High-throughput nucleotide sequencing; Molecular diagnostic techniques