K. Swyden, S. Sisson, K. Lora, Ashley E. Weedn, A. Morris, BethDeGrace, Kristen A Copel
Background: Parents’ perception of whether children are overweight can influence parenting practices. The purpose of this study was to examine parental perception of and concern for child weight in relation to parenting practices. Methods: A cross-sectional study of parents (n=75) with pre-school age children. Parents completed the Child Feeding Questionnaire and Parenting Strategies for Obesogenic Behaviors Questionnaire. Perception (overweight vs. not overweight) and concern (concerned vs. not concerned) of child weight were examined in relation to individual strategies (Chi-square) and feeding practices (independent t-tests). Findings were confirmed in analyses adjusted for child race, sex, and weight status. Results: Five percent of parents perceived their child as overweight; 61.3% of parents were concerned about their child becoming overweight; 36% of children were overweight. Parents who perceived their child as overweight agreed their child should always eat all of the food on his/her plate (75%, p=0.031). Concerned parents made sure their child did not eat too many sweets (89%, p=0.005), high fat foods (78%, p=0.001), or favorite foods (59%, p=0.009); kept some foods out of reach (76%, p=0.014); kept track of sweets eaten (87%, p=0.012) and television watched (83%, p=0.046). Parents with concern used restrictive feeding practices (3.6% vs. 2.9%, p=0.003) and had children with a higher BMI percentile (75.0 vs. 51.0, p=0.001). Adjustment for multiple analyses was more conservative (p≤0.003). Conclusions: Parents’ concern as to whether their child is overweight was associated with overall restrictive feeding practices and children with higher body mass. Individual strategies employed by parents with a perception of or concern for overweightness included restriction, monitoring, and pressure to eat.
{"title":"Relationship between parental perception and concern for child weight and influence on obesogenic parenting practices","authors":"K. Swyden, S. Sisson, K. Lora, Ashley E. Weedn, A. Morris, BethDeGrace, Kristen A Copel","doi":"10.12715/apr.2015.2.12","DOIUrl":"https://doi.org/10.12715/apr.2015.2.12","url":null,"abstract":"Background: Parents’ perception of whether children are overweight can influence parenting practices. The purpose of this study was to examine parental perception of and concern for child weight in relation to parenting practices. Methods: A cross-sectional study of parents (n=75) with pre-school age children. Parents completed the Child Feeding Questionnaire and Parenting Strategies for Obesogenic Behaviors Questionnaire. Perception (overweight vs. not overweight) and concern (concerned vs. not concerned) of child weight were examined in relation to individual strategies (Chi-square) and feeding practices (independent t-tests). Findings were confirmed in analyses adjusted for child race, sex, and weight status. Results: Five percent of parents perceived their child as overweight; 61.3% of parents were concerned about their child becoming overweight; 36% of children were overweight. Parents who perceived their child as overweight agreed their child should always eat all of the food on his/her plate (75%, p=0.031). Concerned parents made sure their child did not eat too many sweets (89%, p=0.005), high fat foods (78%, p=0.001), or favorite foods (59%, p=0.009); kept some foods out of reach (76%, p=0.014); kept track of sweets eaten (87%, p=0.012) and television watched (83%, p=0.046). Parents with concern used restrictive feeding practices (3.6% vs. 2.9%, p=0.003) and had children with a higher BMI percentile (75.0 vs. 51.0, p=0.001). Adjustment for multiple analyses was more conservative (p≤0.003). Conclusions: Parents’ concern as to whether their child is overweight was associated with overall restrictive feeding practices and children with higher body mass. Individual strategies employed by parents with a perception of or concern for overweightness included restriction, monitoring, and pressure to eat.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66237984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Zahavi, A. Hilely, D. Weinberger, M. Snir, Yonina Ron Kella
Persistent fetal vasculature (PFV) is a congenital developmental disorder manifesting as a fibrovascular remnant of the embryonal hyaloid vascular system within the vitreal space. Retinopathy of prematurity (ROP) presents as varying degrees of non-vascularized retinal tissue with potentially devastating ocular complications. Both pathologies arise from ocular vascular system abnormalities, and various treatment modalities have been attempted in the past. In this report we describe a unique case of a late manifesting PFV that may be associated with the development of ROP, complicated by a visually significant cataract. Citation: Zahavi A, Hilely A, Weinberger D, Snir M, Kella YR (2015) Unusual persistent fetal vasculature presentation in a
持续性胎儿血管(PFV)是一种先天性发育障碍，表现为胚胎玻璃状血管系统在玻璃体空间内的纤维血管残余。早产儿视网膜病变(ROP)表现为不同程度的无血管化视网膜组织，具有潜在的破坏性眼部并发症。这两种病变都是由眼部血管系统异常引起的，过去曾尝试过各种治疗方法。在本报告中，我们描述了一个独特的病例，晚期表现的PFV可能与ROP的发展有关，并伴有明显的白内障。引用本文:Zahavi A, Hilely A, Weinberger D, Snir M, Kella YR(2015)胎儿血管异常持续性表现
{"title":"Unusual persistent fetal vasculature presentation in a premature baby","authors":"A. Zahavi, A. Hilely, D. Weinberger, M. Snir, Yonina Ron Kella","doi":"10.12715/apr.2015.2.26","DOIUrl":"https://doi.org/10.12715/apr.2015.2.26","url":null,"abstract":"Persistent fetal vasculature (PFV) is a congenital developmental disorder manifesting as a fibrovascular remnant of the embryonal hyaloid vascular system within the vitreal space. Retinopathy of prematurity (ROP) presents as varying degrees of non-vascularized retinal tissue with potentially devastating ocular complications. Both pathologies arise from ocular vascular system abnormalities, and various treatment modalities have been attempted in the past. In this report we describe a unique case of a late manifesting PFV that may be associated with the development of ROP, complicated by a visually significant cataract. Citation: Zahavi A, Hilely A, Weinberger D, Snir M, Kella YR (2015) Unusual persistent fetal vasculature presentation in a","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. R. Guerra, Elaheh Vahabnezhad, Eric A. Swanson, B. Naini, L. Wozniak
Esophagitis dissecans superficialis and eosinophilic esophagitis are distinct esophageal pathologies with characteristic clinical and histologic findings. Esophagitis dissecans superficialis is a rare finding on endoscopy consisting of the peeling of large fragments of esophageal mucosa. Histology shows sloughing of the epithelium and parakeratosis. Eosinophilic esophagitis is an allergic disease of the esophagus characterized by eosinophilic inflammation of the epithelium and symptoms of esophageal dysfunction. Both of these esophageal processes have been associated with other diseases, but there is no known association between them. We describe a case of esophagitis dissecans superficialis and eosinophilic esophagitis in an adolescent patient. To our knowledge, this is the first case describing an association between esophageal dissecans superficialis and eosinophilic esophagitis.
{"title":"Esophagitis dissecans associated with eosinophilic esophagitis in an adolescent","authors":"M. R. Guerra, Elaheh Vahabnezhad, Eric A. Swanson, B. Naini, L. Wozniak","doi":"10.12715/apr.2015.2.8","DOIUrl":"https://doi.org/10.12715/apr.2015.2.8","url":null,"abstract":"Esophagitis dissecans superficialis and eosinophilic esophagitis are distinct esophageal pathologies with characteristic clinical and histologic findings. Esophagitis dissecans superficialis is a rare finding on endoscopy consisting of the peeling of large fragments of esophageal mucosa. Histology shows sloughing of the epithelium and parakeratosis. Eosinophilic esophagitis is an allergic disease of the esophagus characterized by eosinophilic inflammation of the epithelium and symptoms of esophageal dysfunction. Both of these esophageal processes have been associated with other diseases, but there is no known association between them. We describe a case of esophagitis dissecans superficialis and eosinophilic esophagitis in an adolescent patient. To our knowledge, this is the first case describing an association between esophageal dissecans superficialis and eosinophilic esophagitis.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66239460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Bruce, Camille F. Cramm, Kim Mundle, Devon P. Williams, A. Conrad
Background: Despite legislation and research evidence supporting the use of childhood vehicle restraints, motor vehicle crashes remain the leading cause of injury, death and disability among Canadian children. Methods: Working in collaboration with trained car seat specialists and police officers, roadside checks were conducted to observe correct use of child restraints. Results: Of the 1323 child vehicle restraints inspected, 99.6% of the children were restrained, 91% were in the correct seat, and 48% of restraints were correctly installed. The seat/restraint types most used incorrectly used were booster seats (31%) and seat belts (53%). The majority of incorrectly installed or fitted seats (55%) were forward facing. Common errors in installation and fit included the seat not being secured tightly enough to the vehicle, incorrect tether strap use, the harness not being tight enough, and/or the chest clip being in the wrong place. Conclusions: The greatest proportion of incorrect seat use was among those children who transitioned to a seat belt too soon. The greatest proportion of installation and fit errors were among forward facing seats. Researchers recommend: 1) targeting parents with older children (ages 3 and above) regarding transitioning too soon from forward facing seats to booster seats, and from booster seats to seat belts; 2) targeting parents with younger children regarding correct installation of rear facing and forward facing seats; 3) collaborating with police officers to review the most common errors and encourage observation at roadside checks; and 4) creating community awareness by way of roadside checks.
{"title":"Roadside observation of child passenger restraint use","authors":"B. Bruce, Camille F. Cramm, Kim Mundle, Devon P. Williams, A. Conrad","doi":"10.12715/apr.2015.2.24","DOIUrl":"https://doi.org/10.12715/apr.2015.2.24","url":null,"abstract":"Background: Despite legislation and research evidence supporting the use of childhood vehicle restraints, motor vehicle crashes remain the leading cause of injury, death and disability among Canadian children. Methods: Working in collaboration with trained car seat specialists and police officers, roadside checks were conducted to observe correct use of child restraints. Results: Of the 1323 child vehicle restraints inspected, 99.6% of the children were restrained, 91% were in the correct seat, and 48% of restraints were correctly installed. The seat/restraint types most used incorrectly used were booster seats (31%) and seat belts (53%). The majority of incorrectly installed or fitted seats (55%) were forward facing. Common errors in installation and fit included the seat not being secured tightly enough to the vehicle, incorrect tether strap use, the harness not being tight enough, and/or the chest clip being in the wrong place. Conclusions: The greatest proportion of incorrect seat use was among those children who transitioned to a seat belt too soon. The greatest proportion of installation and fit errors were among forward facing seats. Researchers recommend: 1) targeting parents with older children (ages 3 and above) regarding transitioning too soon from forward facing seats to booster seats, and from booster seats to seat belts; 2) targeting parents with younger children regarding correct installation of rear facing and forward facing seats; 3) collaborating with police officers to review the most common errors and encourage observation at roadside checks; and 4) creating community awareness by way of roadside checks.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Scharoun, R. Markoulakis, P. Fletcher, P. Bryden
Background: Parents of children with Autism Spectrum Disorders (ASD), particularly mothers, experience a unique caregiving demand. Although benefits do exist, caregivers often report a burden due to children’s lack of social interaction and ability to self-care. Development of motor skills employed in these activities is often delayed in children with ASD; however, possible links between motor skills and the experiences of their caregivers is not clearly understood. This pilot study explored caregivers’ descriptions of the functioning of children with ASD in relation to their children’s motor abilities. Methods: Five children (two male, three female, ages 6‐8) with ASD participated in the following tasks to assess lateral preference and performance: the WatHand Cabinet Test, involving a series of unimanual tasks; the Large and Small Grooved Pegboards test, which time the placement of pegs into key-shaped holes; Eyedness Tasks, such as looking through a tube with one eye; and Footedness Tasks, such as kicking a ball. The five married female primary caregivers (ages 35‐46) of these children participated in one-on-one, semistructured interviews regarding their view of their children’s functioning, and costs and benefits of their experiences. Results: Overall, parents of children who displayed weaker lateralization described their children’s motor abilities in ways that were indicative of greater difficulties with social interaction and age-appropriate selfcare. Conclusions: Implications exist for intervention planning, where service providers should be cognizant of the motor difficulties experienced by children with ASD, and plan interventions that promote functional gains.
{"title":"The influence of motor abilities in children with autism spectrum disorder on caregiver experiences: A pilot study","authors":"S. Scharoun, R. Markoulakis, P. Fletcher, P. Bryden","doi":"10.12715/apr.2015.2.19","DOIUrl":"https://doi.org/10.12715/apr.2015.2.19","url":null,"abstract":"Background: Parents of children with Autism Spectrum Disorders (ASD), particularly mothers, experience a unique caregiving demand. Although benefits do exist, caregivers often report a burden due to children’s lack of social interaction and ability to self-care. Development of motor skills employed in these activities is often delayed in children with ASD; however, possible links between motor skills and the experiences of their caregivers is not clearly understood. This pilot study explored caregivers’ descriptions of the functioning of children with ASD in relation to their children’s motor abilities. Methods: Five children (two male, three female, ages 6‐8) with ASD participated in the following tasks to assess lateral preference and performance: the WatHand Cabinet Test, involving a series of unimanual tasks; the Large and Small Grooved Pegboards test, which time the placement of pegs into key-shaped holes; Eyedness Tasks, such as looking through a tube with one eye; and Footedness Tasks, such as kicking a ball. The five married female primary caregivers (ages 35‐46) of these children participated in one-on-one, semistructured interviews regarding their view of their children’s functioning, and costs and benefits of their experiences. Results: Overall, parents of children who displayed weaker lateralization described their children’s motor abilities in ways that were indicative of greater difficulties with social interaction and age-appropriate selfcare. Conclusions: Implications exist for intervention planning, where service providers should be cognizant of the motor difficulties experienced by children with ASD, and plan interventions that promote functional gains.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Berraies, H. Snen, B. Hamdi, J. Ammar, T. Mestiri, T. Kilani, AgnèsHamzaoui
Background: The aim of the present study was to analyze the epidemiological, clinical, radiological and endoscopic characteristics of pediatric foreign body aspiration in Tunisian children. Methods: This was a retrospective study of 76 children with foreign body aspiration who were admitted to our department for flexible and/or rigid bronchoscopy between January 2002 and January 2013. Results: The median age of the children was 2.8 years (range: 1.58-6 years). Of these, 61.6% were aged between one and three years. The aspirated foreign bodies were nuts and seeds in 44.64 % of cases, with sunflower seeds representing 19.64% of these cases. Scarf pins were the most frequent metallic foreign body in 7.9% of cases. Almost half of cases were presented within 72 hours of inhalation. Diagnosis of an inhaled foreign body was delayed by more than 30 days in 23.8% of cases. In 79.6% of subjects, a typical penetration syndrome was found on interviewing the parents. Chest X-ray was normal in 18.5% of cases. All children underwent flexible bronchoscopy first, or after rigid bronchoscopy. In 73 (96%) children, the foreign body was seen during flexible bronchoscopy. Eleven foreign bodies (15.2%) were removed safely in our department, via the flexible bronchoscope under general anesthesia. Surgery for foreign body extraction, or for treatment of complications, was necessary in 21.05% of children. Conclusions: Inhalation of seeds and nuts by children is a serious problem. Education by physicians, and especially parents, is the main guarantor to significantly reduce morbidity and mortality in this pathology.
{"title":"Foreign body inhalation in Tunisian children: Experience of a pediatricrespiratory diseases department","authors":"A. Berraies, H. Snen, B. Hamdi, J. Ammar, T. Mestiri, T. Kilani, AgnèsHamzaoui","doi":"10.12715/apr.2015.2.17","DOIUrl":"https://doi.org/10.12715/apr.2015.2.17","url":null,"abstract":"Background: The aim of the present study was to analyze the epidemiological, clinical, radiological and endoscopic characteristics of pediatric foreign body aspiration in Tunisian children. Methods: This was a retrospective study of 76 children with foreign body aspiration who were admitted to our department for flexible and/or rigid bronchoscopy between January 2002 and January 2013. Results: The median age of the children was 2.8 years (range: 1.58-6 years). Of these, 61.6% were aged between one and three years. The aspirated foreign bodies were nuts and seeds in 44.64 % of cases, with sunflower seeds representing 19.64% of these cases. Scarf pins were the most frequent metallic foreign body in 7.9% of cases. Almost half of cases were presented within 72 hours of inhalation. Diagnosis of an inhaled foreign body was delayed by more than 30 days in 23.8% of cases. In 79.6% of subjects, a typical penetration syndrome was found on interviewing the parents. Chest X-ray was normal in 18.5% of cases. All children underwent flexible bronchoscopy first, or after rigid bronchoscopy. In 73 (96%) children, the foreign body was seen during flexible bronchoscopy. Eleven foreign bodies (15.2%) were removed safely in our department, via the flexible bronchoscope under general anesthesia. Surgery for foreign body extraction, or for treatment of complications, was necessary in 21.05% of children. Conclusions: Inhalation of seeds and nuts by children is a serious problem. Education by physicians, and especially parents, is the main guarantor to significantly reduce morbidity and mortality in this pathology.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Tomov, R. Bidjamshin, V. Evreinov, S. Leonchuk, D. Popkov
Background: Single-event multilevel orthopedic surgery is a modern approach in the operative treatment of children with cerebral palsy. Methods: Single-event multilevel orthopedic surgery was carried out in 108 patients with cerebral palsy. Patients’ average age was 11.3±1.7 years. Surgical results were analyzed at follow-up after 18 to 24 months, by way of detailed physical examination, functional assessment, imaging, the Edinburgh Visual Gait Score and Gillette Functional Assessment Questionnaire. Results: In our series, 647 procedures were performed during 141 surgeries. Patients had an average of 4.59 procedures per surgery. Observational gait analysis showed an improvement in stance and swing gait phases in ambulatory children. According to the Gillette Functional Assessment Questionnaire, an increase of functional level was noted in 50 patients but did not change in 32 patients. Conclusions: For children with cerebral palsy, single-event multilevel surgery is defined as two or more surgical procedures of the soft tissue or bone at two or more anatomical levels during one operative procedure. In cases where a large volume of surgery is required, two separate operations with a short break in between, but requiring only one hospital admission and one rehabilitation period, are also included. This approach requires adapted methods of surgical intervention, and appropriate methods of anesthesia and pain control in the postoperative period to the start of rehabilitation. Compliance with the above principles allowed the necessary correction of orthopedic complications to be achieved in all cases.
{"title":"Results of single-event multilevel orthopedic surgery in children withcerebral palsy","authors":"A. Tomov, R. Bidjamshin, V. Evreinov, S. Leonchuk, D. Popkov","doi":"10.12715/apr.2015.2.25","DOIUrl":"https://doi.org/10.12715/apr.2015.2.25","url":null,"abstract":"Background: Single-event multilevel orthopedic surgery is a modern approach in the operative treatment of children with cerebral palsy. Methods: Single-event multilevel orthopedic surgery was carried out in 108 patients with cerebral palsy. Patients’ average age was 11.3±1.7 years. Surgical results were analyzed at follow-up after 18 to 24 months, by way of detailed physical examination, functional assessment, imaging, the Edinburgh Visual Gait Score and Gillette Functional Assessment Questionnaire. Results: In our series, 647 procedures were performed during 141 surgeries. Patients had an average of 4.59 procedures per surgery. Observational gait analysis showed an improvement in stance and swing gait phases in ambulatory children. According to the Gillette Functional Assessment Questionnaire, an increase of functional level was noted in 50 patients but did not change in 32 patients. Conclusions: For children with cerebral palsy, single-event multilevel surgery is defined as two or more surgical procedures of the soft tissue or bone at two or more anatomical levels during one operative procedure. In cases where a large volume of surgery is required, two separate operations with a short break in between, but requiring only one hospital admission and one rehabilitation period, are also included. This approach requires adapted methods of surgical intervention, and appropriate methods of anesthesia and pain control in the postoperative period to the start of rehabilitation. Compliance with the above principles allowed the necessary correction of orthopedic complications to be achieved in all cases.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66239017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Gelatinase A (matrix metalloproteinase-2) is an important enzyme in many biologic processes. Prevailing data reveal a functional polymorphism at bp -1575 in the human gelatinase A promoter, which is associated with diminished transcriptional response to estrogen and genetic fitness. The reason for the disequilibrium of the -1575AA genotype within the Hardy-Weinberg distribution remains unknown. We therefore screened full-term and premature newborns to investigate whether the -1575AA genotype might increase the risk of premature delivery, which is often associated with decreased survival of infants. Methods: DNA from 959 full-term and 358 premature newborns of North German Caucasian origin was amplified from dried blood on filter paper used for standard newborn screening in Germany. Genotypes were defined by restriction digest of PCR products. Results: No statistically significant difference in Hardy-Weinberg distribution was discovered between fullterm and premature infants. However, a trend towards the expected number of homozygous mutants was seen in premature females. Conclusions: Our results warrant the hypothesis that the disequilibrium in -1575AA mutational variant might be due to early abortions; the reduced responsiveness to estrogen stimulation in this genotype might be responsible for inadequate estrogen-stimulated gelatinase A enhancement during trophoblast invasion and uterine implantation of the embryo. Further genotyping of couples seeking help from fertility clinics might help to answer this question.
{"title":"Potential role of a single nucleotide polymorphism in the gelatinase A promoter as a risk factor for premature birth","authors":"Z. Lukács, S. Harendza","doi":"10.12715/apr.2015.2.21","DOIUrl":"https://doi.org/10.12715/apr.2015.2.21","url":null,"abstract":"Background: Gelatinase A (matrix metalloproteinase-2) is an important enzyme in many biologic processes. Prevailing data reveal a functional polymorphism at bp -1575 in the human gelatinase A promoter, which is associated with diminished transcriptional response to estrogen and genetic fitness. The reason for the disequilibrium of the -1575AA genotype within the Hardy-Weinberg distribution remains unknown. We therefore screened full-term and premature newborns to investigate whether the -1575AA genotype might increase the risk of premature delivery, which is often associated with decreased survival of infants. Methods: DNA from 959 full-term and 358 premature newborns of North German Caucasian origin was amplified from dried blood on filter paper used for standard newborn screening in Germany. Genotypes were defined by restriction digest of PCR products. Results: No statistically significant difference in Hardy-Weinberg distribution was discovered between fullterm and premature infants. However, a trend towards the expected number of homozygous mutants was seen in premature females. Conclusions: Our results warrant the hypothesis that the disequilibrium in -1575AA mutational variant might be due to early abortions; the reduced responsiveness to estrogen stimulation in this genotype might be responsible for inadequate estrogen-stimulated gelatinase A enhancement during trophoblast invasion and uterine implantation of the embryo. Further genotyping of couples seeking help from fertility clinics might help to answer this question.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Patients with beta-thalassemia present with severe anemia requiring regular red blood cell transfusions. This can lead to iron overload and its related complications including disorders of the endocrine systems. The aim of this work was to study parathyroid function in children with beta-thalassemia major in correlation with iron load. Methods: 60 patients with beta-thalassemia major were included. The cohort included 32 males and 28 females with an age range of 6-10 years and a control group of 30 healthy children of matched age and sex. All patients underwent complete blood count, Hb electrophoresis, serum iron status, parathyroid hormone (PTH) levels, serum ionized calcium, phosphorus and alkaline phosphatase, and assessment of bone mineral density. Results: Serum ferritin, iron, phosphorus and alkaline phosphatase were significantly higher in children with beta-thalassemia, while serum total iron binding capacity, PTH and ionized calcium were significantly lower in these patients compared to controls. A significant negative correlation was found between serum parathyroid hormone levels and ferritin. Reduced bone mineral density was present in 33 patients (55%), with osteoporosis in 21 patients (35%) and osteopenia in 12 patients (20%). Conclusions: Parathyroid hormone levels are significantly lower in thalassemic patients, with a significant negative correlation with serum ferritin. Regular and continuous follow up of PTH, calcium, phosphorus, alkaline phosphatase, and 25-hydroxy vitamin D levels is recommended for early detection of hypoparathyrodism in thalassemic patients. Regular and continuous bone mineral density assessment is also recommended for early detection of osteoporosis or osteopenia.
{"title":"Parathyroid function in children with beta thalassemia and correlation with iron load","authors":"A. Hagag, M. El-Shanshory, A. M. A. El-enein","doi":"10.12715/apr.2015.2.3","DOIUrl":"https://doi.org/10.12715/apr.2015.2.3","url":null,"abstract":"Background: Patients with beta-thalassemia present with severe anemia requiring regular red blood cell transfusions. This can lead to iron overload and its related complications including disorders of the endocrine systems. The aim of this work was to study parathyroid function in children with beta-thalassemia major in correlation with iron load. Methods: 60 patients with beta-thalassemia major were included. The cohort included 32 males and 28 females with an age range of 6-10 years and a control group of 30 healthy children of matched age and sex. All patients underwent complete blood count, Hb electrophoresis, serum iron status, parathyroid hormone (PTH) levels, serum ionized calcium, phosphorus and alkaline phosphatase, and assessment of bone mineral density. Results: Serum ferritin, iron, phosphorus and alkaline phosphatase were significantly higher in children with beta-thalassemia, while serum total iron binding capacity, PTH and ionized calcium were significantly lower in these patients compared to controls. A significant negative correlation was found between serum parathyroid hormone levels and ferritin. Reduced bone mineral density was present in 33 patients (55%), with osteoporosis in 21 patients (35%) and osteopenia in 12 patients (20%). Conclusions: Parathyroid hormone levels are significantly lower in thalassemic patients, with a significant negative correlation with serum ferritin. Regular and continuous follow up of PTH, calcium, phosphorus, alkaline phosphatase, and 25-hydroxy vitamin D levels is recommended for early detection of hypoparathyrodism in thalassemic patients. Regular and continuous bone mineral density assessment is also recommended for early detection of osteoporosis or osteopenia.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66238917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joanna Szczepanek, J. Laskowska, J. Styczyński, A. Tretyn
Genome and transcriptome profiling methods are increasingly used in studies of pediatric acute myeloid leukemia (AML). AML can be distinguished from acute lymphoblastic leukemia (ALL) on the basis of gene expression profiles; so too can the various subclasses of these two forms be further distinguished and genetically characterized. Genome-wide analysis studies (GWAS) have also contributed to new insights into the biological basis of the mechanisms of drug resistance, and allow the identification of new prognostic factors and the potential for targeted therapy. On the basis of changes in gene expression level, it is also possible to predict the risk of early recurrence and prognosis at the time of diagnosis of de novo leukemia. Although the possibility to analyze gene expression profiles already presents significant progress in our understanding of the complex pathobiology of pediatric AML, the introduction of new microarrays formats, such as CGH, SNP, CpG islands or antibodies, should be considered to build a complete picture of the cells in this form of cancer.
{"title":"Pediatric acute myeloid leukemia and drug resistance in the context of microarray studies","authors":"Joanna Szczepanek, J. Laskowska, J. Styczyński, A. Tretyn","doi":"10.12715/apr.2015.2.1","DOIUrl":"https://doi.org/10.12715/apr.2015.2.1","url":null,"abstract":"Genome and transcriptome profiling methods are increasingly used in studies of pediatric acute myeloid leukemia (AML). AML can be distinguished from acute lymphoblastic leukemia (ALL) on the basis of gene expression profiles; so too can the various subclasses of these two forms be further distinguished and genetically characterized. Genome-wide analysis studies (GWAS) have also contributed to new insights into the biological basis of the mechanisms of drug resistance, and allow the identification of new prognostic factors and the potential for targeted therapy. On the basis of changes in gene expression level, it is also possible to predict the risk of early recurrence and prognosis at the time of diagnosis of de novo leukemia. Although the possibility to analyze gene expression profiles already presents significant progress in our understanding of the complex pathobiology of pediatric AML, the introduction of new microarrays formats, such as CGH, SNP, CpG islands or antibodies, should be considered to build a complete picture of the cells in this form of cancer.","PeriodicalId":72104,"journal":{"name":"Advances in pediatric research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66237970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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