scholarly journals Definition and prevalence of familial short stature

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Veronica Grigoletto ◽  
Alessandro Agostino Occhipinti ◽  
Maria Chiara Pellegrin ◽  
Fabio Sirchia ◽  
Egidio Barbi ◽  
...  
Keyword(s):  
Short Stature ◽  
Clinical Evaluation ◽  
Autosomal Dominant ◽  
Genetic Evaluation ◽  
Target Height ◽  
Cross Sectional ◽  
Child Height ◽  
Adequate Measurement

Abstract Objective To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured. Methods We consecutively enrolled 65 individuals referred for short stature when both parents were present. We defined “target height-related short stature” (TH-SS) when child’s height is ≤ − 2 SDS and included in the range of target height; suspected “autosomal dominant short stature” (AD-SS) when child height and at least one parent height are ≤ − 2 SDS; “constitutional familial short stature” (C-FSS) when a child with TH-SS does not have any parents with height ≤ − 2 SDS. Results Of 65 children referred for SS, 48 individuals had a height ≤ − 2 SDS. Based on the parents’ measured heights, 24 children had TH-SS, 16 subjects AD-SS, and 12 individuals C-FSS. If we had considered only the parents’ reported height, 3 of 24 children with TH-SS, 9 of 16 with AD-SS, and 10 of 12 with C-FSS would have been lost. Conclusion We suggest novel definitions to adequately detect and approach the cases of FSS since C-FSS (25%) might not need any specific investigation, while on the contrary, AD-SS (33%) should undergo genetic evaluation. Moreover, this study underlines that adequate measurement and consideration of children’s and parents’ heights (individually and together) are crucial in the clinical evaluation of every child with short stature.

scholarly journals Definition and prevalence of familial short stature

2020 ◽  
Author(s):  
Veronica Grigoletto ◽  
Alessandro Agostino Occhipinti ◽  
Maria Chiara Pellegrin ◽  
Fabio Sirchia ◽  
Egidio Barbi ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Target Height ◽  
Causative Gene ◽  
Cross Sectional ◽  
Child Height ◽  
Definition Of ◽  
Adequate Measurement ◽  
Support Treatment

Abstract Objective A significant portion of familial short stature (FSS) cases may not be recognized in clinical practice if the parents’ height is not adequately investigated. This study aimed to verify the prevalence of different definition of FSS on a cross-sectional cohort of children referred for short stature (SS) when their height and that of both parents were measured. Methods We consecutively enrolled 65 individuals referred for SS when both parents were present. We defined “target height related short stature” (TH-SS) when child height SDS was ≤-2 and included in the range of TH (i.e. TH SDS ± 1.5) and “autosomal dominant short stature” (AD-SS) when child and at least one parent heights were ≤-2 SDS. Results On 65 children referred for SS, 48 individuals had a height ≤-2 SDS. Based on measured parents’ heights, 24 children had TH-SS and 16 children AD-SS; 12 children were identified by both TH-SS and AD-SS, while 12 children with TH-SS did not have any of parents with SS. When considering reported parents’ heights, 3 out of 24 children with TH-FSS and 9 out of 16 with AD-FSS would have been missed. Conclusion This study underlines that adequate measurement and consideration of both parents’ height should be part of the clinical evaluation of every children with SS and new definitions should be used to detect and adequately approach the cases of FSS, since the identification of a causative gene in AD-SS can support treatment and follow-up decisions.

scholarly journals The Effect of The Height of a Second-Degree Relative on Children with Short Stature

2021 ◽  
Author(s):  
Seda Yılmaz Semerci ◽  
Hasan Onal ◽  
Neval Topal ◽  
Rengin Siraneci
Keyword(s):  
Short Stature ◽  
Final Height ◽  
Cross Sectional Study ◽  
Control Group ◽  
Case Group ◽  
Healthy Children ◽  
Target Height ◽  
Degree Relative ◽  
Cross Sectional ◽  
Second Degree

Objective: This study aimed to investigate the effect of the heights of second-degree relatives on adult height. Methods: This was a cross-sectional study. Healthy children who applied to the general pediatric outpatient clinic to monitor the development of growth were considered as control group. Case group consisted of patients over 3 years of age with genetic, idiopathic short stature or without short stature but below the target height. All participants had either an uncle and an aunt with a short stature. Two groups were compared for their demographic characteristics and family information. Results: The control group consisted of 43 children who were older than 3 years. A total of 101 cases of short stature were included in the study. Prevalence rates of idiopathic (39.6%: n=40), familial (36.6%: n=37), and constitutional (23.7%: n=24) short stature were as indicated. When the males included in the study were examined from different perspectives (case, control, presence of consanguineous marriage), the height of the uncle was predicted to be closer to or equal to the target height. Conclusion: In case of short stature, the ‘target height’ criterion alone is shown to be not reliable in the assessment of genetic compatibility as well as the deviation from the predicted final height. Predicted final height was demonstrated to be similar to aunt height for girls and uncle height for boys. Therefore, the height of a second-degree relative can be used as an aid in the estimation.

scholarly journals Aboveground Biomass Allocation of Boreal Shrubs and Short-Stature Trees in Northwestern Canada

Forests ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 234
Author(s):  
Linda Flade ◽  
Christopher Hopkinson ◽  
Laura Chasmer
Keyword(s):  
Short Stature ◽  
Biomass Allocation ◽  
Aboveground Biomass ◽  
Leaf Biomass ◽  
Sectional Area ◽  
Plant Component ◽  
Cross Sectional ◽  
Allometric Models ◽  
Stem Biomass ◽  
Model Fits

In this follow-on study on aboveground biomass of shrubs and short-stature trees, we provide plant component aboveground biomass (herein ‘AGB’) as well as plant component AGB allometric models for five common boreal shrub and four common boreal short-stature tree genera/species. The analyzed plant components consist of stem, branch, and leaf organs. We found similar ratios of component biomass to total AGB for stems, branches, and leaves amongst shrubs and deciduous tree genera/species across the southern Northwest Territories, while the evergreen Picea genus differed in the biomass allocation to aboveground plant organs compared to the deciduous genera/species. Shrub component AGB allometric models were derived using the three-dimensional variable volume as predictor, determined as the sum of line-intercept cover, upper foliage width, and maximum height above ground. Tree component AGB was modeled using the cross-sectional area of the stem diameter as predictor variable, measured at 0.30 m along the stem length. For shrub component AGB, we achieved better model fits for stem biomass (60.33 g ≤ RMSE ≤ 163.59 g; 0.651 ≤ R2 ≤ 0.885) compared to leaf biomass (12.62 g ≤ RMSE ≤ 35.04 g; 0.380 ≤ R2 ≤ 0.735), as has been reported by others. For short-stature trees, leaf biomass predictions resulted in similar model fits (18.21 g ≤ RMSE ≤ 70.0 g; 0.702 ≤ R2 ≤ 0.882) compared to branch biomass (6.88 g ≤ RMSE ≤ 45.08 g; 0.736 ≤ R2 ≤ 0.923) and only slightly better model fits for stem biomass (30.87 g ≤ RMSE ≤ 11.72 g; 0.887 ≤ R2 ≤ 0.960), which suggests that leaf AGB of short-stature trees (<4.5 m) can be more accurately predicted using cross-sectional area as opposed to diameter at breast height for tall-stature trees. Our multi-species shrub and short-stature tree allometric models showed promising results for predicting plant component AGB, which can be utilized for remote sensing applications where plant functional types cannot always be distinguished. This study provides critical information on plant AGB allocation as well as component AGB modeling, required for understanding boreal AGB and aboveground carbon pools within the dynamic and rapidly changing Taiga Plains and Taiga Shield ecozones. In addition, the structural information and component AGB equations are important for integrating shrubs and short-stature tree AGB into carbon accounting strategies in order to improve our understanding of the rapidly changing boreal ecosystem function.

scholarly journals Clinical evaluation of pulmonary hypertension using patient-reported outcomes: a cross-sectional study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Miguel Ángel Amor-García ◽  
Sara Ibáñez-García ◽  
Xandra García-González ◽  
Teresa Mombiela ◽  
Cristina Villanueva-Bueno ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Pulmonary Hypertension ◽  
Clinical Evaluation ◽  
Patient Reported Outcomes ◽  
Specific Treatment ◽  
Tertiary Hospital ◽  
Functional Class ◽  
Cross Sectional ◽  
Patient Reported

Abstract Background Patients with pulmonary hypertension (PH) have progressive and disabling symptoms, as well as a burden of treatments and a difficult clinical evaluation that make health-related quality of life a particularly relevant endpoint in this disease. The objective of the study was to evaluate patient-reported outcomes of patients receiving specific treatment for PH in a tertiary hospital using a specific questionnaire (Cambridge Pulmonary Hypertension Outcome Review-CAMPHOR) in the pharmacy consultation. Methods A cross-sectional, observational, descriptive study was conducted. It included all patients receiving specific treatment for PH in a tertiary hospital in Madrid, Spain. The inclusion period comprised between August to December 2019. CAMPHOR questionnaires containing three domains: symptoms, activities and quality of life were completed by the patients at the pharmacy consultation. Demographic and clinical variables, including WHO Functional Class (WHO FC), PH-specific tests and hemodynamic parameters, were recorded. Non-parametric analyses to assess relations between variables and CAMPHOR domains were performed. Results Thirty-six patients consented to participate in the study and completed the questionnaire. Median scores for symptoms, activities, and quality of life domains were 5.5 (2.5–10), 8.0 (4.5–10.5) and 3.5 (1–7.5), respectively. Statistically significant differences were found in the three domains when comparing by WHO FC, in the activities domain for 6-m walking test and in the quality of life domain for patients who had emergency visits or hospitalizations in the last year. Conclusions The CAMPHOR questionnaire could be useful as a complementary test to achieve an integrated evaluation of PH patients, who could complete it easily during their routine pharmacy visits.

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

scholarly journals Pattern of adverse effects in patients with nephrotic syndrome on oral prednisolone

2017 ◽  
Vol 6 (6) ◽  
pp. 1269
Author(s):  
Shankareswari S. ◽  
Jayapriya B. ◽  
Balamurugan P. V. ◽  
Lourdu Jafrin A. ◽  
Geetha K.
Keyword(s):  
Nephrotic Syndrome ◽  
Adverse Effects ◽  
Short Stature ◽  
Oral Prednisolone ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Glucose Levels ◽  
Long Term Follow Up ◽  
Literature Evidence ◽  
Paediatric Age

Background: Nephrotic syndrome is a common illness affecting the paediatric age group and 80% of the idiopathic syndrome is steroid sensitive. Multiple relapses make them vulnerable to the adverse effects of corticosteroids. There is limited literature evidence for the adverse effects of steroids in children with renal pathology.Methods: This descriptive, cross sectional study analyses the adverse effects of oral prednisolone in children and adults with nephrotic syndrome Fifty-five patients with nephrotic syndrome, attending nephrology or paediatric OP, more than 3 years of age and who were on oral prednisolone for a minimum of eight weeks were included in the study. Demographic details, detailed history, lab investigations and ophthalmic examination were done and the results were analysed.Results: Hypertension and behavioural changes were the most common adverse effects followed by dermatological, endocrine and metabolic changes. Infections and gastrointestinal disturbances were more in adults (p <0.05). Short stature was more in children (p< 0.05). There was no abnormality in blood glucose levels and body weight. Hypertension, cushingoid habitus, infections and short stature were statistically less in patients on alternate day prednisolone. But no statistical association could be made between the occurrence of cataract and the pattern of prednisolone use.Conclusions: Adverse effects pattern is different among adults and children. Also, the adverse effects are less with alternate day prednisolone regimen. Long term follow up into their adulthood is needed to analyse the morbidity produced by corticosteroids in these subsets of population.

scholarly journals Walking and postural balance in adults with severe short stature due to isolated GH deficiency

2019 ◽  
Vol 8 (4) ◽  
pp. 416-424 ◽  
Author(s):  
Ananda A Santana-Ribeiro ◽  
Giulliani A Moreira-Brasileiro ◽  
Manuel H Aguiar-Oliveira ◽  
Roberto Salvatori ◽  
Vitor O Carvalho ◽  
...  
Keyword(s):  
Short Stature ◽  
Postural Balance ◽  
Fall Risk ◽  
Gh Deficiency ◽  
Muscle Tone ◽  
Receptor Gene ◽  
Leg Length ◽  
Timed Up And Go ◽  
Cross Sectional ◽  
Severe Short Stature

Objectives Walking and postural balance are extremely important to obtain food and to work. Both are critical for quality of life and ability to survive. While walking reflects musculoskeletal and cardiopulmonary systems, postural balance depends on body size, muscle tone, visual, vestibular and nervous systems. Since GH and IGF-I act on all these systems, we decided to study those parameters in a cohort of individuals with severe short stature due to untreated isolated GH deficiency (IGHD) caused by a mutation in the GHRH receptor gene. These IGHD subjects, despite reduction in muscle mass, are very active and have normal longevity. Methods In a cross-sectional study, we assessed walking (by a 6-min walk test), postural balance (by force platform) and fall risk (by the 'Timed Up and Go' test) in 31 IGHD and 40 matched health controls. Results The percentage of the walked distance measured in relation to the predicted one was similar in groups, but higher in IGHD, when corrected by the leg length. Absolute postural balance data showed similar velocity of unipodal support in the two groups, and better values, with open and closed eyes and unipodal support, in IGHD, but these differences became non-significant when corrected for height and lower-limb length. The time in 'Timed Up and Go' test was higher in IGHD cohort, but still below the cut-off value for fall risk. Conclusion IGHD subjects exhibit satisfactory walking and postural balance, without increase in fall risk.

scholarly journals Clinical evaluation of mark induced dermatitis on health care workers during COVID-19 pandemic: a cross sectional study

2021 ◽  
Vol 7 (3) ◽  
pp. 413
Author(s):  
Sushma I. ◽  
Nivin Simon ◽  
A. J. S. Pravin ◽  
M. K. Padmaprasad ◽  
M. Vijayabharathi ◽  
...  
Keyword(s):  
Health Care ◽  
Clinical Evaluation ◽  
Health Care Workers ◽  
Health Care Professionals ◽  
Healthcare Workers ◽  
Skin Diseases ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Care Workers

<p class="abstract"><strong>Background: </strong>Mask induced dermatitis is common among health care workers now because of the obligatory use of facemask for a longer period during COVID-19, the clinical features vary. Very few studies could be conducted due to the COVID induced constraints. Studies regarding reactions to face masks in health workers published to date are limited and hence we decided to do this study. The objective of this study was to find out the clinical presentations of mask induced dermatitis due to long term use of facemask on healthcare workers during COVID-19 pandemic.</p><p class="abstract"><strong>Methods:</strong> A cross sectional study was conducted among 40 healthcare workers attend our OPD with face mask for 6 months. After getting informed written consent clinical evaluation was made by history and dermatologic examination.<strong></strong></p><p class="abstract"><strong>Results:</strong> Total 40 health care professionals between the age group of 21-50 years (17 females and 23 males) came to our OPD with complaints of itching and dryness with signs of erythema, scaling, papules for 6 months duration. Out of them, 15 (37.5%) patients had exacerbation of pre-existing dermatoses like atopic dermatitis, seborrheic dermatitis, chronic urticaria, acne. 10 patients (25%) had irritant contact dermatitis 7 patients (17.5%) had sweat-induced dermatitis, 4 patients (10%) had dermatitis due to sponge strip at the nasal bridge, 4 patients (10%) had dermatitis due to vehement use of ear loop involving retroauricular region.</p><p class="abstract"><strong>Conclusions:</strong> This study showed that wearing face masks results in the development and aggravation of other skin diseases due to various causes. Itch can induce scratching and thus lead to inappropriate use of face masks, which could compromise their function.</p>

scholarly journals Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood

2020 ◽  
Vol 182 (3) ◽  
pp. 363-374 ◽  
Author(s):  
Masanobu Fujimoto ◽  
Jane C Khoury ◽  
Philip R Khoury ◽  
Bhanu Kalra ◽  
Ajay Kumar ◽  
...  
Keyword(s):  
Short Stature ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Single Center ◽  
Marked Rise ◽  
Cross Sectional ◽  
Igf I ◽  
Important Regulator ◽  
The Relationship ◽  
Igfbp 3

Objective Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that cleaves IGFBP-3 and IGFBP-5. Human mutations in PAPPA2 result in short stature with a low percentage of free IGF-I. Little is known about PAPP-A2 levels and the regulation of free IGF-I throughout childhood. We examined PAPP-A2 and intact IGFBP-3 levels in childhood and explored associations between PAPP-A2, free and total IGF-I, and total and intact IGFBP-3 and their relationship to the percentage of free to total IGF-I and anthropometric factors. Design Cross-sectional study at a single center. Methods PAPP-A2, free IGF-I, and intact IGFBP-3 levels were measured in childhood (3–18 years old) and an evaluation of the relationship between these proteins and anthropometric factors. Results In 838 children, PAPP-A2 consistently decreased throughout childhood. In contrast, free IGF-I increased. A pubertal peak in free IGF-I was present in females but was less evident in males. Intact and total IGFBP-3 increased throughout childhood; however, intact IGFBP-3 had a more marked rise than total IGFBP-3. Percent free IGF-I decreased with no distinct pubertal peak. PAPP-A2 levels positively correlated with the percent free IGF-I (Male, Female; r = 0.18, 0.38; P < 0.001) and negatively with intact IGFBP-3 (Male, Female; r = −0.58, −0.65; P < 0.0001). Conclusions This is the first study to describe serum PAPP-A2 and intact IGFBP-3 in children between 3 and 18 years of age. Our correlative findings suggest that PAPP-A2 is an important regulator of the percent free IGF-I which can be a marker of perturbations in the GH/IGF-I axis.

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