scholarly journals Anthropometric Phenotype of Patients with PMM2-CDG

Children ◽  
2021 ◽  
Vol 8 (10) ◽  
pp. 852
Author(s):  
Patryk Lipiński ◽  
Agnieszka Różdżyńska-Świątkowska ◽  
Anna Bogdańska ◽  
Anna Tylki-Szymańska

Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and anthropometric phenotype. Materials and methods: Retrospective chart review of PMM2-CDG patients’ medical records was performed regarding the anthropometric measurements (head circumference, body length/height, body weight, body mass index) and PMM2 variants. Results: A negative tendency of growth evolution was observed. Patients found to be heterozygous for R141H grew slower than other patients. Body weight was correlated with body height. A negative tendency of the growth rate of head circumference was observed. Patients found to be heterozygous for R141H experienced slower growth than other patients. Conclusions: Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xin Li ◽  
Jin Zhu ◽  
Jun An ◽  
Yuqing Wang ◽  
Yili Wu ◽  
...  

AbstractCongenital Heart Defects (CHDs) are associated with different patterns of malnutrition and growth retardation, which may vary worldwide and need to be evaluated according to local conditions. Although tetralogy of Fallot (TOF) is one of the first described CHDs, the etiology outcomes in growth and development of TOF in early age child is still unclear in most cases. This study was designed to investigate the growth retardation status of Chinese pediatric TOF patients under 5 years old. The body height, body weight and body mass index (BMI) of 262 pediatric patients (138 boys and 124 girls) who underwent corrective surgery for TOF between 2014 and 2018 were measured using conventional methods. The average body height, body weight and BMI of the patients were significantly lower than WHO Child Growth Standards, while the most affected was body height. Meanwhile, higher stunting frequency and greater deterioration of both the body height and weight happened in elder age (aged 13–60 months) rather than in infant stage (aged 0–12 months) among these patients. Our results confirmed that intervention should be given at early age to prevent the growth retardation of TOF patients getting severer.


Animals ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 2064
Author(s):  
Zhenyu Wei ◽  
Ke Wang ◽  
Hui Wu ◽  
Zhen Wang ◽  
Chuanying Pan ◽  
...  

Stature and weight are important growth and development traits for animals, which also significantly affect the productivity of livestock. Polymorphic adenoma gene 1 (PLAG1) is located in the growth-related quantitative trait nucleotides (QTN), and its variation has been determined to significantly affect the body stature of bovines. This study found that novel 15-bp InDel could significantly influence important growth traits in goats. The frequencies of genotypes of the 15-bp mutation and relationship with core growth traits such as body weight, body height, height at hip cross, chest circumference, hip width and body index were explored in 1581 individuals among 4 Chinese native goat breeds. The most frequent genotypes of Shaanbei white Cashmere goat (SWCG), Inner Mongolia White Cashmere goat (IMCG) and Guanzhong Dairy goat (GZDG) were II genotypes (insertion/insertion), and the frequency of ID genotype (insertion/deletion) was found to be slightly higher than that of II genotype in Hainan Black goat (HNBG), showing that the frequency of the I allele was higher than that of the D allele. In adult goats, there were significant differences between 15-bp variation and body weight, chest circumference and body height traits in SWCG (p < 0.05). Furthermore, the locus was also found to be significantly correlated with the body index of HNBG (p = 0.044) and hip width in GZDG (p = 0.002). In regard to lambs, there were significant differences in height at the hip cross of SWCG (p = 0.036) and hip width in IMWC (p = 0.005). The corresponding results suggest that the 15-bp InDel mutation of PLAG1 is associated with the regulation of important growth characteristics of both adult and lamb of goats, which may serve as efficient molecular markers for goat breeding.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1343.2-1344
Author(s):  
Z. Vaghaiwalla ◽  
G. Kaeley

Background:Patients with rheumatic disease are at risk of developing glucocorticoid induced osteoporosis (GIOP) as many are prescribed systemic oral glucocorticoids as an adjunct to their maintenance therapy. Based on the 2017 ACR Guideline for the Prevention and Treatment of Glucocorticoid-Induced Osteoporosis, a good practice recommendation exists that “initial clinical fracture risk assessment should be performed as soon as possible, but at least within six months of the initiation of long term glucocorticoid treatment.1” Long-term glucocorticoid use is defined by duration of 3 months or greater. Fracture risk assessment should include dual energy-ray absorptiometry (DEXA) scan. Patients on greater than or equal to 2.5 mg of prednisone should be treated with an optimal dose of calcium and vitamin D and may benefit from oral bisphosphonate as primary prevention against GIOP if their fracture risk is moderate to high.1Objectives:The aim of this Quality Improvement Project is to assess the current status of provider implementation of GIOP recommendations in the rheumatology clinic. Ultimate goal is to improve osteoporosis prevention in the rheumatology clinic.Methods:We conducted a retrospective chart review of 60 patients in two outpatient rheumatology clinics. Clinic 1 follows patients with lower socioeconomic status and Clinic 2 follows patients with higher socioeconomics. Inclusion criteria were patients on long-term glucocorticoid use, defined as at least 3 months of corticosteroid use of at least 2.5 mg prednisone daily, as well as age less than 65. Females aged 65 or older were omitted to prevent overlap of the United States Preventative Taskforce recommendation for all women ≥ 65 years to be screened for osteoporosis with DEXA scans.2 DEXA scan orders, calcium and vitamin D prescriptions, and osteoporosis medication prescriptions were abstracted. After baseline data obtained, intervention of education of the rheumatology fellows and faculty, and internal medicine residents in the guidelines for GIOP prevention was implemented. In addition, a smartphrase in the electronic medical record was created for provider use when treating patients on chronic corticosteroids. Subsequently, two audit cycles were completed for retrospective chart review.Results:Upon completion of second audit cycle, there was no change in percentage of DEXA scan orders at Clinic 1, however there was a 10% overall improvement in DEXA scan orders in the Clinic 2.In terms of Calcium and Vitamin D prescriptions, there was an overall improvement in both clinics of 19.7% and 13.3% in Clinics 1 and 2 respectfully after the second audit cycle.Additionally, there was a 3.4% increase in osteoporosis medication prescriptions overall subsequent to the second audit cycle in Clinic 1. However in Clinic 2 there was an overall decrease in osteoporosis medication prescriptions of 6.6%.Clinic 1Prior to AuditAudit cycle 1Audit cycle 2Patient percentage without DEXA scan orders30%33.30%30%Patient percentage without Vitamin D/Calcium orders26.40%8.30%6.70%Patient percentage with osteoporosis medication orders23.30%8.30%26.70%Clinic 2Patient percentage without DEXA scan orders50%37.00%40%Patient percentage without Vitamin D/Calcium orders30%26.00%16.70%Patient percentage with osteoporosis medication orders23.30%11.10%16.70%Conclusion:Overall, the results of the intervention were strongest for improvements in Vitamin D and Calcium orders in both clinics. Improvements in DEXA scan orders and osteoporosis medications were present in Clinic 2 and not present in Clinic 1. This reveals continued efforts and education of providers need to be made for improvement in bone health monitoring.References:[1]Buckley, Lenore, et al. “2017 American College of Rheumatology Guideline for the Prevention and Treatment of Glucocorticoid-Induced Osteoporosis.” Arthritis & Rheumatology, vol. 69, no. 8, June 2017, pp. 1521–1537., doi:10.1002/art.40137.[2]Final Recommendation Statement: Osteoporosis to Prevent Fractures: Screening. U.S. Preventive Services Task Force. July 2019.Disclosure of Interests:None declared.


2020 ◽  
pp. 112067212097604
Author(s):  
Reem R Al Huthail ◽  
Yasser H Al-Faky

Objective: To evaluate the effect of chronicity on the size of the ostium after external dacryocystorhinostomy (DCR) with intubation. Methods: Design: A retrospective chart review of patients who underwent external DCR with intubation over 10 years from January 2003 at a tertiary hospital. All patients were recruited and examined with rigid nasal endoscope. Results: A total number of 66 (85 eyes) patients were included. The mean age at the time of evaluation was 53.1 years with gender distribution of 54 females (81.8 %). The mean duration ±SD between the date of surgery and the date of evaluation was 33.2 ± 33.6 (6–118 months). Our study showed an overall anatomical and functional success of 98.8% and 95.3%, respectively. The mean size of the ostium (±SD) was 23.0 (±15.7) mm2 (ranging from 1 to 80.4 mm2). The size of the ostium was not a significant factor for failure ( p = 0.907). No statistically significant correlation was found between the long-term duration after surgery and the size of the ostium ( R: 0.025, p = 0.157). Conclusions: Nasal endoscopy after DCR is valuable in evaluating the ostium with no observed potential correlation between the long-term follow-up after surgery and the size of the ostium.


2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Turki M. AlHarbi ◽  
Abdullaziz AlGarni ◽  
Fasial AlGamdi ◽  
Mona Jawish ◽  
Tariq Ahmad Wani ◽  
...  

Objective.To determine the accuracy of the Broselow Tape (BT) versions 2007 and 2011 in estimating weight among pediatric population.Methods.A cross-sectional study was conducted at King Fahad Medical City and six schools across Riyadh province on 1–143-month-old children. BT 2007 and 2011 estimated weights were recorded. Both tapes via the child’s height produce an estimated weight, which was compared with the actual weight.Results.A total of 3537 children were recruited. The height (cm) of the subjects was97.7±24.1and the actual weight (kg) was16.07±8.9, whereas the estimated weight determined by BT 2007 was15.87±7.56and by BT 2011 was16.38±7.95. Across all the five age groups, correlation between actual weight and BT 2007 ranged between 0.702 and 0.788, while correlation between actual weight and BT 2011 ranged between 0.698 and 0.788. Correlation between BT 2007 and BT 2011 across all the five age groups ranged from 0.979 to 0.989. Accuracy of both the tape versions was adversely affected when age was >95 months and body weight was >26 kilograms.Conclusions.Our study showed that BT 2007 and 2011 provided accurate estimation of the body weight based on measured body height. However, 2011 version provided more precise estimate for weight.


1993 ◽  
Vol 182 (1) ◽  
pp. 57-69 ◽  
Author(s):  
M. Wortmann ◽  
W. Zarnack

1. We simultaneously recorded lift/body weight, flight speed, body angle and 12 variables of wing movement for locusts performing tethered long-term flight with low movement scatter. The movements of the forewings and hindwings were recorded in three dimensions by means of miniature induction coils. 2. By adjusting the body angle, we could reproducibly manipulate lift generation as a consequence of induced changes in the wings' movement patterns. We were therefore able to analyse various relationships between the movement patterns and lift. 3. The most prominent variations of kinematic variables were observed for the forewing movements. The relative lift and the steady angle of pitch were positively correlated but there was a negative correlation between relative lift and pitching amplitude. We found no correlation between relative lift and flapping amplitude. Our results seem to correspond to a new theory about unsteady aerodynamics of oscillating aerofoils. 4. We sometimes observed variations in lagging. 5. The forewing downstroke was delayed by 0–8 ms following the hindwing downstroke. Relative lift was positively correlated to this delay.


2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S339-S340
Author(s):  
Kathleen R Sheridan ◽  
Joshua Wingfield ◽  
Lauren McKibben ◽  
Natalie Clouse

Abstract Background OPAT is a well-established model of care for the monitoring of patients requiring long-term IV antibiotics1. We have previously reported a reduction in the 30-day readmission rate to our facility for patients managed in our OPAT program. However, little has been published to date regarding outcomes in OPAT patients over 80 years of age 2–3. Our OPAT program was established in 2013. Patients can be discharged to a facility or home to complete their course of antibiotics. Methods We conducted a retrospective chart review of all OPAT patients discharged from our facility from 2015 to 2018. Patients were divided into two groups based on age, <80 (n = 4618) and >80 (n = 562). Results Patient demographics are listed in Table 1. The overall 30-day readmission rate for patients older than 80 was 27.8%. For patients over 80 that had a follow-up ID clinic appointment, the 30-day readmission rate decreased to 15.7%. For patients younger than 80, the 30-day readmission rate was 36.0% with a decrease to 16.2% if patients were evaluated in the outpatient clinic. Figure 1. Staphylococcus Aureus was the predominant organism in both age categories. Vancomycin was the most common antibiotic used in both age groups followed by β lactams. Conclusion In general, patients aged over 80 years were more likely to be discharged to a facility to complete their antibiotic course than younger patients. These patients also were more likely to have other comorbidities. The 30-day readmission rate in each age group was relatively similar. OPAT in patients over age 80 can have similar 30-day readmission rates as for patients less than 80 years of age Disclosures All authors: No reported disclosures.


2021 ◽  
Author(s):  
Michele Cellai

BACKGROUND We identified patients with coronavirus disease 2019 that were followed by a telemedicine clinic and eventually referred to a post COVID clinic due to persistent symptoms of COVID-19. Of those patients requiring referral to the post COVID clinic, equal percentages of patients treated acutely with inhaled corticosteroids (ICS) and/ or oral steroids required referral to a pulmonary specialist. OBJECTIVE To determine if there was a difference in long term outcomes when prescribed ICS versus oral steroids METHODS Chart review comparing new prescription ICS to new prescription oral steroid RESULTS No difference in long term outcome between the groups CONCLUSIONS It is safe to prescribe ICS or oral steroids for symptom relief, but cost may be an issue


1970 ◽  
Vol 56 (6) ◽  
pp. 325-334 ◽  
Author(s):  
Giuseppe Della Porta ◽  
José R. Cabral ◽  
Giorgio Parmiani

In a previous paper (Fd Cosmet. Toxicol., 6: 707–715, 1968) it was reported that hexamethylenetetramine (HMT) had no carcinogenic activity in long-term experiments in mice and rats. In the present study, 12 ♀ and 6 ♂ Wistar rats were given 1% HMT in the drinking water starting 2 weeks before mating. The females were kept under treatment during pregnancy and lactation. A similar untreated group of 12 ♀ and 6 ♂ served as control. Twelve treated females and eleven controls became pregnant and gave birth to 124 and 118 babies respectively; no malformations were noted. From these animals, 24 for each sex were continued on the 1% HMT up to the 20th week of age or were kept untreated. The body weight of treated animals was significantly lower than that of controls one, only up to the 9th week of age for the males and up to the 13th week for the females. At the end of the treatment both groups were sacrificed; the weight of organs was identical in the treated and control animals; there were no gross or histological pathology. In a second experiment, rats were given 1% HMT in the drinking water for 3 successive generations, up to the age of 40 weeks in the F1 and F2 groups and of 20 weeks for F3. The three groups were composed of 13 ♂ and 7 ♀, 15 ♂ and 11 ♀, 12 ♂ and 12 ♂, respectively. In addition, a group of 16 ♂ and 16 ♀ descendants of 2% HMT treated parents, were given 2% HMT for 50 weeks. A group of 48 ♂ and 48 ♀ served as untreated controls. All groups were kept under observation for over 2 years of age. No evidence of carcinogenicity was found in any of the HMT-treated groups.


Kinesiology ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 169-177 ◽  
Author(s):  
Todd C. Shoepe ◽  
Jeanette M. Ricci

Volume, or the total work performed during resistance training is one of the vital variables of resistance exercise programming. The most common definition in use by practitioners is sets x reps x external weight. While appropriate for linear loading incurred through free-weight resistance exercise, this inadequately addresses the nonlinear loading incurred with rubber resistance, a relatively new loading technique. The purpose of this investigation was to derive a theoretical model to describe a method of volume calculation for rubber band plus free-weight exercise. Men (n=51; age 19.5±1.6 years; body height 1.76±0.07 meters; body weight 77.3±11.3 kilograms) and women participants (n=66; age 18.9±1.1 years; body height 1.65±0.07 meters; body weight 62.8±9.1 kilograms) were measured for band lengths incurred at: squat with knee extended position, squat with flexed position, and change in band length was then calculated. Significant gender differences were seen for band length change as a percentage of body height (p&lt;0.5) during the squat, which mandated separate volume equations (females=33.8%; males=35.3% of body height). Equations were determined for total external volume estimation in kgm=[0.338(m+2c2+(ln(h)-0.383)2c1)]/g and kgm=[0.352(m+2c2+(ln(h)-0.382)2c1)]/g for females and males, respectively, where m is the total external resistance, c2 and c1 are constants derived from rubber-band loading parameters, h is the body height of the participant, and g is gravitational acceleration. This work provides practitioners and researchers with a simple theoretical method for work estimation using participant’s body height to estimate displacement values during the squat exercise.


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