Pub Date : 2022-01-01Epub Date: 2022-11-28DOI: 10.21037/pm-21-70
Samara Pollock, Meghana Rajashekara Swamy, Elise Schlissel Tremblay, Lisa Shen
Objective: This narrative review aims to provide readers with a comprehensive overview of the current literature of acanthosis nigricans (AN) in the pediatric and adolescent population, including best practices for identifying the condition, with a focus on the recommended management in the primary care setting to enable early and enhanced intervention.
Background: AN is frequently seen in obese and overweight children and adolescents. Current research suggests an association with insulin resistance, type 2 diabetes mellitus, and obesity, and often primary care physicians are the first point of contact for individuals with this dermatologic condition. However, identifying the condition at an early stage may be difficult.
Methods: We identified case and cross-sectional studies, clinical trials, and literature reviews of pediatric AN for ages 0 to 18 years in the United States and internationally. We considered publications for background from before the year 2000 and publications for approach to management from after the year 2000.
Conclusions: AN in the pediatric population can be a harbinger for underlying metabolic syndrome and insulin resistance. A thorough investigation and appropriate screening of children at risk, with a focus on early identification of the dermatologic condition and its associated comorbidities in the primary care setting, and early treatment is recommended to prevent long term consequences and decrease the risk of cardiovascular complications.
{"title":"Acanthosis nigricans in the pediatric population: a narrative review of the current approach to management in primary care.","authors":"Samara Pollock, Meghana Rajashekara Swamy, Elise Schlissel Tremblay, Lisa Shen","doi":"10.21037/pm-21-70","DOIUrl":"10.21037/pm-21-70","url":null,"abstract":"<p><strong>Objective: </strong>This narrative review aims to provide readers with a comprehensive overview of the current literature of acanthosis nigricans (AN) in the pediatric and adolescent population, including best practices for identifying the condition, with a focus on the recommended management in the primary care setting to enable early and enhanced intervention.</p><p><strong>Background: </strong>AN is frequently seen in obese and overweight children and adolescents. Current research suggests an association with insulin resistance, type 2 diabetes mellitus, and obesity, and often primary care physicians are the first point of contact for individuals with this dermatologic condition. However, identifying the condition at an early stage may be difficult.</p><p><strong>Methods: </strong>We identified case and cross-sectional studies, clinical trials, and literature reviews of pediatric AN for ages 0 to 18 years in the United States and internationally. We considered publications for background from before the year 2000 and publications for approach to management from after the year 2000.</p><p><strong>Conclusions: </strong>AN in the pediatric population can be a harbinger for underlying metabolic syndrome and insulin resistance. A thorough investigation and appropriate screening of children at risk, with a focus on early identification of the dermatologic condition and its associated comorbidities in the primary care setting, and early treatment is recommended to prevent long term consequences and decrease the risk of cardiovascular complications.</p>","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40702887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bronchopulmonary dysplasia (BPD): a change in perspective","authors":"G. Stichtenoth, E. Herting","doi":"10.21037/pm-22-53","DOIUrl":"https://doi.org/10.21037/pm-22-53","url":null,"abstract":"","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44909913","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}
{"title":"Growth factors and their roles in cardiac development and regeneration: a narrative review","authors":"G. Brown, Jihyun Jang, Deqiang Li","doi":"10.21037/pm-22-17","DOIUrl":"https://doi.org/10.21037/pm-22-17","url":null,"abstract":"","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42022725","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}
{"title":"Newborn jaundice—an introductory overview","authors":"D. K. Stevenson, R. Wong","doi":"10.21037/pm-21-79","DOIUrl":"https://doi.org/10.21037/pm-21-79","url":null,"abstract":"","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44695047","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. Al-Hadidi, M. Almahariq, Samuel K. Osei, L. Gowans, A. Stallion
: Desmoid tumors are rare, benign soft tissue tumors that occur spontaneously, or less frequently, in patients with a genetic predisposition. With an unpredictable course, desmoid tumors are often locally aggressive and have a high rate of recurrence even after complete surgical excision. Desmoid tumors often become a chronic problem for patients, making them a major source of morbidity, and may even lead to mortality. Management of these tumors can be frustrating, with patients often requiring multiple modes of therapy in pursuit of a cure. We present a patient with a history of familial adenosis polyposis (FAP) who presented early on in life with an extra-abdominal desmoid tumor that proved to be a major source of morbidity during his childhood. We review a chronological approach to the management of our patients’ tumor with the resulting outcomes following each mode of therapy, which included observation, surgical resection, systemic therapy, and radiotherapy. Additionally, we review the currently literature with regards to the recommended management of desmoid tumors in different settings, including an in-depth discussion on the outcomes and failures of management following observation, systemic therapy with non-cytotoxic and cytotoxic therapies, surgical resection alone, radiation therapy (RT) alone, and a combination of surgical resection and RT.
{"title":"Management of rapidly growing recurrent extra-abdominal pediatric desmoid tumor: case report","authors":"A. Al-Hadidi, M. Almahariq, Samuel K. Osei, L. Gowans, A. Stallion","doi":"10.21037/pm-21-28","DOIUrl":"https://doi.org/10.21037/pm-21-28","url":null,"abstract":": Desmoid tumors are rare, benign soft tissue tumors that occur spontaneously, or less frequently, in patients with a genetic predisposition. With an unpredictable course, desmoid tumors are often locally aggressive and have a high rate of recurrence even after complete surgical excision. Desmoid tumors often become a chronic problem for patients, making them a major source of morbidity, and may even lead to mortality. Management of these tumors can be frustrating, with patients often requiring multiple modes of therapy in pursuit of a cure. We present a patient with a history of familial adenosis polyposis (FAP) who presented early on in life with an extra-abdominal desmoid tumor that proved to be a major source of morbidity during his childhood. We review a chronological approach to the management of our patients’ tumor with the resulting outcomes following each mode of therapy, which included observation, surgical resection, systemic therapy, and radiotherapy. Additionally, we review the currently literature with regards to the recommended management of desmoid tumors in different settings, including an in-depth discussion on the outcomes and failures of management following observation, systemic therapy with non-cytotoxic and cytotoxic therapies, surgical resection alone, radiation therapy (RT) alone, and a combination of surgical resection and RT.","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41313739","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}
Feifan Xiao, K. Yan, Huijun Wang, Bingbing Wu, L. Hu, Lin Yang, Wenhao Zhou
Genetic diseases are caused by gene variants or chromosomal anomalies. Common genetic diseases include congenital defects, chromosomal disorders, and metabolic disorders. Approximately 5% of newborns will be diagnosed with a genetic disease prior to until 25 years of age (1). Genetic diseases during the neonatal period can influence neonatal mortality (2). The neonatal period (the first 4 weeks of a child’s life) is the most vulnerable time for a child’s survival. According to data from the World Health Organization, the global average neonatal mortality rate was 17 per 1,000 live births in 2019 (3). Kingsmore et al. (4) found that approximately 21% of deceased infants were diagnosed with genetic diseases. It has been reported that genetic diseases impose a substantial economic burden on healthcare system (5,6). Moreover, genetic diseases cause significant psychological burdens for patients and their families. Study Protocol
{"title":"Protocol of the China Neonatal Genomes Project: an observational study about genetic testing on 100,000 neonates","authors":"Feifan Xiao, K. Yan, Huijun Wang, Bingbing Wu, L. Hu, Lin Yang, Wenhao Zhou","doi":"10.21037/pm-21-29","DOIUrl":"https://doi.org/10.21037/pm-21-29","url":null,"abstract":"Genetic diseases are caused by gene variants or chromosomal anomalies. Common genetic diseases include congenital defects, chromosomal disorders, and metabolic disorders. Approximately 5% of newborns will be diagnosed with a genetic disease prior to until 25 years of age (1). Genetic diseases during the neonatal period can influence neonatal mortality (2). The neonatal period (the first 4 weeks of a child’s life) is the most vulnerable time for a child’s survival. According to data from the World Health Organization, the global average neonatal mortality rate was 17 per 1,000 live births in 2019 (3). Kingsmore et al. (4) found that approximately 21% of deceased infants were diagnosed with genetic diseases. It has been reported that genetic diseases impose a substantial economic burden on healthcare system (5,6). Moreover, genetic diseases cause significant psychological burdens for patients and their families. Study Protocol","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47726297","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}
Orlando Cortes, T. Rabbani, R. Thomas, Kristen Cares
Background: In adult studies, red blood cell distribution width (RDW) has been suggested to be a predictor of small intestinal atrophy in celiac disease (CD). Our goal is to assess whether RDW can similarly be used as a reliable marker of compliance and predictor of atrophy in pediatric patients with CD. Methods: We performed a retrospective study of children aged 1–17 years old diagnosed with CD from 2008–2018. We reviewed patient demographics, laboratory parameters prior to CD diagnosis, laboratory findings after management with gluten free diet, and histologic findings at the time of diagnosis. Results: Overall, 128 patients met inclusion criteria. No significant difference in RDW was found prior to diagnosis versus after treatment (13.3 vs . 13.1, P=0.590). In addition, RDW did not show clinical significance in detecting villous atrophy (13.4 vs . 13.2, P=0.113). However, further analysis revealed a statistically significant association among patients having a RDW >12.9 and presence of atrophy (P=0.04). Conclusions: There is a clear disparity between adult studies and pediatric studies in the usefulness in RDW as a predictive marker for intestinal atrophy and compliance in patients with CD, as RDW did not show clinical significance in detecting villous atrophy or compliance with a gluten free diet.
背景：在成人研究中，红细胞分布宽度（RDW）被认为是乳糜泻（CD）小肠萎缩的预测指标。我们的目标是评估RDW是否可以类似地用作CD患儿依从性的可靠标志物和萎缩的预测指标。方法：我们对2008-2018年诊断为CD的1-17岁儿童进行了回顾性研究。我们回顾了患者的人口统计数据、CD诊断前的实验室参数、无麸质饮食治疗后的实验室结果以及诊断时的组织学结果。结果：总体而言，128名患者符合入选标准。诊断前和治疗后的RDW没有发现显著差异（13.3 vs 13.1，P=0.590）。此外，RDW在检测绒毛萎缩方面没有显示出临床意义（13.4 vs 13.2，P=0.113）。然而，进一步的分析显示，RDW>12.9的患者与存在萎缩的患者之间存在统计学上显著的相关性（P=0.04）。结论：成人研究和儿童研究在RDW作为CD患者肠道萎缩和依从性的预测标志的有用性方面存在明显差异，因为RDW在检测绒毛萎缩或对无麸质饮食的依从性方面没有显示出临床意义。
{"title":"Significance of red blood cell distribution width in children with celiac disease","authors":"Orlando Cortes, T. Rabbani, R. Thomas, Kristen Cares","doi":"10.21037/pm-21-24","DOIUrl":"https://doi.org/10.21037/pm-21-24","url":null,"abstract":"Background: In adult studies, red blood cell distribution width (RDW) has been suggested to be a predictor of small intestinal atrophy in celiac disease (CD). Our goal is to assess whether RDW can similarly be used as a reliable marker of compliance and predictor of atrophy in pediatric patients with CD. Methods: We performed a retrospective study of children aged 1–17 years old diagnosed with CD from 2008–2018. We reviewed patient demographics, laboratory parameters prior to CD diagnosis, laboratory findings after management with gluten free diet, and histologic findings at the time of diagnosis. Results: Overall, 128 patients met inclusion criteria. No significant difference in RDW was found prior to diagnosis versus after treatment (13.3 vs . 13.1, P=0.590). In addition, RDW did not show clinical significance in detecting villous atrophy (13.4 vs . 13.2, P=0.113). However, further analysis revealed a statistically significant association among patients having a RDW >12.9 and presence of atrophy (P=0.04). Conclusions: There is a clear disparity between adult studies and pediatric studies in the usefulness in RDW as a predictive marker for intestinal atrophy and compliance in patients with CD, as RDW did not show clinical significance in detecting villous atrophy or compliance with a gluten free diet.","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45217955","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: There is growing recognition of the prevalence of mental health disorders in children, and of the importance for recognition and selective prevention in the pediatric setting. Pediatric Primary Care Clinicians (PPCCs) need a tool to capture their observations, weigh risks against strengths, identify problems, and develop intervention plans, particularly when specialty mental health consultation is lacking or when referral for mental health treatment is difficult. Methods: A Mental Health Dashboard is described as an innovative clinical tool to organize information about the mental health of children. This tool considers the child’s life situation and clinical manifestations, organized in eight domains, and considering the child’s developmental level. The tool allows identifying symptom patterns of concern, as well as child and family strengths, and guiding intervention planning. Screening tools may augment and anchor the findings. Results: Case vignettes for a pre-school child with trauma, a school-age child with learning disability and symptoms of ADHD, and an adolescent with mood symptoms and substance use illustrate use of the Dashboard. Conclusions: Primary Care Clinicians, who know the patient and family, are positioned to identify emerging symptoms as well as family strengths, and to mobilize community resources for intervention planning when the option of specialty mental health referral is not indicated or is unavailable. The Mental Health Dashboard arrays observations and organizes an intervention plan.
{"title":"Iterative and comprehensive mental health assessment and treatment planning: the mental health dashboard","authors":"P. Knapp","doi":"10.21037/pm-20-72","DOIUrl":"https://doi.org/10.21037/pm-20-72","url":null,"abstract":"Background: There is growing recognition of the prevalence of mental health disorders in children, and of the importance for recognition and selective prevention in the pediatric setting. Pediatric Primary Care Clinicians (PPCCs) need a tool to capture their observations, weigh risks against strengths, identify problems, and develop intervention plans, particularly when specialty mental health consultation is lacking or when referral for mental health treatment is difficult. Methods: A Mental Health Dashboard is described as an innovative clinical tool to organize information about the mental health of children. This tool considers the child’s life situation and clinical manifestations, organized in eight domains, and considering the child’s developmental level. The tool allows identifying symptom patterns of concern, as well as child and family strengths, and guiding intervention planning. Screening tools may augment and anchor the findings. Results: Case vignettes for a pre-school child with trauma, a school-age child with learning disability and symptoms of ADHD, and an adolescent with mood symptoms and substance use illustrate use of the Dashboard. Conclusions: Primary Care Clinicians, who know the patient and family, are positioned to identify emerging symptoms as well as family strengths, and to mobilize community resources for intervention planning when the option of specialty mental health referral is not indicated or is unavailable. The Mental Health Dashboard arrays observations and organizes an intervention plan.","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44317678","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 pyriform sinus fistula is a rare congenital anomaly that involves failure of obliteration of the third or fourth pharyngeal pouches during the embryological period. It is recognized as a cause of acute suppurative thyroiditis. We describe a case of a 14-year-old girl with Neurofibromatosis-1 that presented with malaise, sore throat, trouble sleeping, palpitations, dysphagia, and heat intolerance. Physical exam showed a tender thyroid nodule. Further evaluation revealed transient thyrotoxicosis. She had elevated free T4, low thyroid-stimulating hormone, and an elevated white blood cell count. A neck ultrasound and non-contrast computed tomography (CT) showed no evidence of a thyroid abscess. Radioactive iodine uptake revealed a cold nodule. Fine needle aspiration of the thyroid nodule diagnosed a thyroid abscess. Investigation of the anatomy during the direct laryngoscopy discovered a thyroid abscess caused by an infected pyriform sinus fistula. Antibiotics were given and the abscess was drained. After resolution of the infection, a hemi-thyroidectomy was performed to prevent re-infection. Acute thyrotoxicosis of unknown origin should prompt investigation for a thyroid infection and a primary cause such as a pyriform sinus fistula. If discovery of a pyriform sinus fistula is made, the fistula should be surgically removed after resolution of the infection in order to prevent recurrence of infection.
{"title":"Pyriform sinus fistula as a cause of acute suppurative thyroiditis presenting as hyperthyroidism in a teenager with neurofibromatosis 1: a case report","authors":"Erica Haught, S. Bendre","doi":"10.21037/PM-21-25","DOIUrl":"https://doi.org/10.21037/PM-21-25","url":null,"abstract":"A pyriform sinus fistula is a rare congenital anomaly that involves failure of obliteration of the third or fourth pharyngeal pouches during the embryological period. It is recognized as a cause of acute suppurative thyroiditis. We describe a case of a 14-year-old girl with Neurofibromatosis-1 that presented with malaise, sore throat, trouble sleeping, palpitations, dysphagia, and heat intolerance. Physical exam showed a tender thyroid nodule. Further evaluation revealed transient thyrotoxicosis. She had elevated free T4, low thyroid-stimulating hormone, and an elevated white blood cell count. A neck ultrasound and non-contrast computed tomography (CT) showed no evidence of a thyroid abscess. Radioactive iodine uptake revealed a cold nodule. Fine needle aspiration of the thyroid nodule diagnosed a thyroid abscess. Investigation of the anatomy during the direct laryngoscopy discovered a thyroid abscess caused by an infected pyriform sinus fistula. Antibiotics were given and the abscess was drained. After resolution of the infection, a hemi-thyroidectomy was performed to prevent re-infection. Acute thyrotoxicosis of unknown origin should prompt investigation for a thyroid infection and a primary cause such as a pyriform sinus fistula. If discovery of a pyriform sinus fistula is made, the fistula should be surgically removed after resolution of the infection in order to prevent recurrence of infection.","PeriodicalId":74411,"journal":{"name":"Pediatric medicine (Hong Kong, China)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46949627","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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