Advocacy in pediatric gastroenterology: An academic clinician's impact and guide.

The current state of policy-making necessitates clinicians and their organizations to be more engaged. This article provides practical examples of how to engage in various levels of advocacy within pediatric gastroenterology.

Yoga in Pediatric Gastroenterology.

PURPOSE OF REVIEW: Pediatric use of yoga as an integrative medicine modality has increased in prevalence over the last several decades. In this article, we review the available evidence for yoga in pediatric gastrointestinal disorders. RECENT FINDINGS: Evidence supports that in many pediatric disorders of gut brain interaction (DGBI), including irritable bowel syndrome, functional abdominal pain and functional dyspepsia, yoga decreases pain intensity and frequency and increases school attendance. Yoga has been shown to improve health-related quality of life and improve stress management as an effective adjunct to standard medical therapy in pediatric inflammatory bowel disease (IBD). Further studies are needed regarding optimal frequency, duration of practice and evaluation of the impact on IBD disease activity measures. Yoga may benefit pediatric gastroenterology patients with DGBIs and IBD through improving quality of life and reducing pain. Future yoga studies could investigate biomarkers and continued research will help integrate this modality into routine pediatric gastroenterology care.

Trends of Magnet Ingestion in Children, an Ironic Attraction.

BACKGROUND AND OBJECTIVES: Ingestion of rare earth magnets is a serious ongoing hazard for pediatric patients. Our study aims to investigate whether 2012 Consumer Product Safety Commission (CPSC) policy action, in coordination with efforts from consumer and physician advocacy groups, decreased the incidence of magnet ingestions in children in the United States since 2012. METHODS: Data from the National Electronic Injury Surveillance System (NEISS) was used to evaluate trends in emergency department (ED) encounters with pediatric patients (<18 years) who presented with suspected magnet ingestions (SMI) from 2010 to 2015. National estimates of SMI were made using the NEISS-supplied weights and variance variables. RESULTS: An estimated 14,586 children (59% male, 50% age <5 years) presented to the ED for SMI from 2010 to 2015. A significant upward trend in magnet-related ED visits preceded the CPSC action, with the peak ingestions of 3167 (95% confidence interval, 1612-4723) recorded in 2012. This was followed by a steady decrease in the rate of SMI to 1907 (95% confidence interval, 1062-2752) in 2015, an average annual decrease of 13.3%. Most importantly, post-federal action estimates demonstrated a downward trend in overall SMI ED visits (P = 0.03). CONCLUSIONS: The frequency of magnet ingestions continued to rise from 2010 and then peak in 2012, followed by a decline in magnet ingestion ED visits during the post-federal action years. This down trend emphasizes the importance of advocacy on decreasing magnet ingestions in children. Further study will be required to determine the impact of the court decision to lift the magnet ban in 2016.

Prospective evaluation of 1-day polyethylene glycol-3350 bowel preparation regimen in children.

OBJECTIVES: The aim of the present study was to evaluate efficacy, safety, and tolerability of a pediatric colonoscopy bowel preparation regimen composed of polyethylene glycol-3350 (PEG-3350) and a sports drink completed in a few hours. METHODS: A prospective, open-label trial of a colonoscopy bowel preparation in children ages 8 to 18 years that included 238 g of PEG-3350 mixed with 1.9 L of Gatorade completed in a few hours. Efficacy was determined using the Boston Bowel Preparation Scale. Basic metabolic profiles and questionnaires were obtained that assessed for safety, adverse effects, tolerability, and patient acceptability. RESULTS: Forty-six patients completed the study. Patients were predominately boys (56.5%) with a mean age of 14.50 years (SD ± 2.9 years). Forty-three (93.5%) were able to complete the regimen. All of the colonoscopies were completed to the cecum and 84% had terminal ileum visualization. Seventy-seven percent were found to be effective preparations. Nausea/vomiting were the most common reported adverse effect (60%) followed by abdominal pain/cramping (44%) and fatigue/weakness (40%). Overall, the regimen was acceptable with 1 exception being the large volume to drink. There were no clinically significant changes in basic metabolic profiles, although there was a statistically significant decrease in the mean potassium (0.16 mEq/L; P = 0.016), blood urea nitrogen (2.68 mg/dL; P < 0.0001), and carbon dioxide (1.89 mmol/L; P < 0.0001). CONCLUSIONS: This study demonstrated that PEG-3350 + Gatorade administered in a few hours is an effective, safe, and moderately tolerable bowel preparation regimen for colonoscopy in children.

Thickened gastrointestinal wall findings on computed tomography in children: a reason for endoscopy?

OBJECTIVES: Bowel wall thickening on computed tomography (CT) scans in children may raise concern for inflammatory bowel disease (IBD). The significance of this radiological finding is unclear. Our purpose was to evaluate the clinical outcomes with regard to IBD in children with no known underlying disease, presenting with abdominal pain and thickened bowel wall on CT scan. METHODS: A retrospective analysis of pediatric patients with abdominal pain and CT findings of thickened bowel wall was performed between 2006 and 2010. Endoscopic findings, clinical variables, and follow-up assessments were evaluated. RESULTS: Fifty-six patients presenting with abdominal pain and thickened bowel wall findings on CT scan were identified. Overall, 30 (54%) had terminal ileum wall thickening, 17 (30%) had isolated colonic wall thickening, and 9 (16%) had other small bowel wall thickening. Of the 56 patients, 21 (38%) underwent endoscopy, of which 14 (67%) had positive findings-11 (79%) had histologic evidence of chronic colitis, and 5 (36%) had duodenitis/ileitis. Ultimately, 11/56 (20%) were diagnosed as having IBD, 8/56 (14%) with functional abdominal pain/constipation, 9/56 (16%) appendicitis, 10/56 (18%) infectious gastroenteritis, and 18/56 (32%) with miscellaneous diagnoses. Median levels of erythrocyte sedimentation rate, C-reactive protein, albumin, and platelet count were significantly abnormal in the IBD group compared to the non-IBD group. Additional follow-up of those who did not undergo endoscopic evaluation revealed no new diagnoses of IBD. CONCLUSIONS: The presence of thickened bowel wall on CT scans is a nonspecific finding in children. Laboratory evaluation may help distinguish which patients require additional evaluation and endoscopy.

Magnet ingestions in children presenting to US emergency departments, 2002-2011.

BACKGROUND AND OBJECTIVE: In the last 10 years, there have been an increasing number of case reports concerning gastrointestinal injury related to magnet ingestions; however, the magnitude of the problem remains to be clearly defined. The aim of the study was to examine the epidemiology of magnet ingestion-related emergency department (ED) visits among children in the United States. METHODS: We performed a trend analysis using a nationally representative sample from the US Consumer Product Safety Commission, National Electronic Injury Surveillance System (NEISS) database for ED visits involving magnet ingestion in children younger than 18 years from 2002 to 2011. RESULTS: A national estimate of 16,386 (95% CI 12,175-20,598) children younger than 18 years presented to EDs in the United States during the 10-year study period with possible magnet ingestion. The incidence of visits increased 8.5-fold (from 0.45/100,000 to 3.75/100,000) from 2002 to 2011 with a 75% average annual increase per year. The majority of patients reported to have ingested magnets were younger than 5 years (54.7%). From 2009 to 2011 there was an increase in older children ingesting multiple small and/or round magnets, with a mean average age of 7.1 ± 0.56 years during the study period. CONCLUSIONS: There has been an alarming increase in ED visits for magnet ingestion in children. Increased public education and prevention efforts are needed.

Therapeutic activity of green synthesized selenium nanoparticles from turmeric against cisplatin-induced oxido-inflammatory stress and cell death in mice kidney.

Cisplatin (CDDP) is a commonly prescribed chemotherapeutic agent; however, its associated nephrotoxicity limits its clinical efficacy and sometimes requires discontinuation of its use. The existing study was designed to explore the reno-therapeutic efficacy of turmeric (Tur) alone or conjugated with selenium nanoparticles (Tur-SeNPs) against CDDP-mediated renal impairment in mice and the mechanisms underlying this effect. Mice were orally treated with Tur extract (200 mg/kg) or Tur-SeNPs (0.5 mg/kg) for 7 days after administration of a single dose of CDDP (5 mg/kg, i.p.). N-acetyl cysteine NAC (100 mg/kg) was used as a standard antioxidant compound. The results revealed that Tur-SeNPs counteracted CDDP-mediated serious renal effects in treated mice. Compared with the controls, Tur or Tur-SeNPs therapy remarkably decreased the kidney index along with the serum levels of urea, creatinine, Kim-1, and NGAL of the CDDP-injected mice. Furthermore, Tur-SeNPs ameliorated the renal oxidant status of CDDP group demonstrated by decreased MDA and NO levels along with elevated levels of SOD, CAT, GPx, GR, GSH, and gene expression levels of HO-1. Noteworthy, lessening of renal inflammation was exerted by Tur-SeNPs via lessening of IL-6 and TNF-α besides down-regulation of NF-κB gene expression in mouse kidneys. Tur-SeNPs treatment also restored the renal histological features attained by CDDP challenge and hindered renal apoptosis through decreasing the Bax levels and increasing Bcl-2 levels. Altogether, these outcomes suggest that the administration of Tur conjugated with SeNPs is effective neoadjuvant chemotherapy to guard against the renal adverse effects that are associated with CDDP therapy.

A Comparison of Knowledge and Skills Related to Up-to-Date Implant Techniques Among Prosthodontists, Periodontists, and Oral Surgeons: A Cross-Sectional Study.

Background A dental implant is used in the treatment of complete and partial edentulism. Implant application has increased significantly in modern dentistry. The anatomy, medical condition, practitioner knowledge, and surgical technique are key factors that eventually affect the overall outcome of dental implants. For a better treatment outcome for dental implants, adequate multidisciplinary communication, cooperation, and support must be achieved while considering the periodontics, prosthodontics, and oral surgery specialties. Objective This study aims to compare the knowledge and skills regarding up-to-date implant techniques among prosthodontists, periodontists, and oral surgeons in Riyadh, Saudi Arabia. Materials and methods The data were collected from prosthodontists, periodontists, and oral surgeons working in Riyadh, Saudi Arabia from April 2022 to August 2022. The targeted subjects were residents, specialists, and consultants working in Riyadh, Saudi Arabia. Results A total of 181 dentists were surveyed in the current study. A significantly higher proportion of oral surgeons have perceived that the BTI brand (BTI Biotechnology Institute, Álava, Spain) had a high load torque before screw fracture (p = 0.025). Periodontists had significantly higher knowledge levels related to the technique with the lowest marginal bone loss (p = 0.003). Knowledge levels were significantly higher among prosthodontists for the items related to the fact that both early and late implant placement following alveolar ridge placement would have the least changes in periodontal parameters (p = 0.013). Conclusion All the targeted specialties exhibited a comparable impression regarding implant techniques and their outcomes. Each specialty had its own aspect of treatment during the placement of dental implants depending on multiple factors. Significant knowledge was observed from each specialty regarding implant brands, techniques, and antibiotic prescriptions for dental implants.

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity. To date, only 9 families have been reported in the literature to have mutations in the leptin receptor gene. The clinical features include severe early onset obesity, severe hyperphagia, hypogonadotropic hypogonadism, and T cell and neuroendocrine/metabolic dysfunction. Here we report two cousins with severe early onset obesity and recurrent respiratory tract infections. Their serum leptin levels were elevated but they were within the range predicted by the elevated fat mass in both cousins. Direct sequencing of the entire coding sequence of the leptin receptor gene revealed a novel homozygous missense mutation in exon 6, P316T. The mutation was found in the homozygous form in both cousins and in the heterozygote state in their parents. This mutation was not found in 200 chromosomes from 100 unrelated normal weight control subjects of Egyptian origin using PCR-RFLP analysis. In conclusion, finding this new mutation in the LEPR beside our previous mutation in the LEP gene implies that monogenic obesity syndromes may be common in the Egyptian population owing to the high rates of consanguineous marriages. Further screening of more families for mutations in LEP, LEPR, and MC4 might confirm this assumption.

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care centers (PHCCs) in Giza Governorate; Neonatal intensive care unit (NICU) in the selected hospitals and Outpatients Human Genetics Clinics (NRC). 62819 persons visited the outpatients clinics of selected hospitals and PHCCs in Giza governorate. Out of these persons 731 cases (1.16%) proved to have known genetic disorders or malformations. 7755 neonates were delivered in the selected hospitals. Out of these neonates 666 newborns entered NICU and 3% (20 neonates) of them had genetic or congenital disorders. Also, 2686 patients were ascertained from the Human Genetics Clinics, NRC. The overall parental consanguinity rate among the 3417 diagnosed cases was 55%, ranging from 29.5-75%. The study showed a high prevalence of genetic/malformation disorders among Egyptians, with frequencies comparable to other Arab populations (Tab. 4, Ref. 25). Full Text (Free, PDF) www.bmj.sk.

Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.

PURPOSE: Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). It is caused by homozygous or compound heterozygous inactivating mutations in the human luteinizing hormone/chorionic gonadotropin hormone receptor (LHCGR) gene. In Leydig cell hypoplasia type I, patients are characterized by predominantly female external genitalia, which usually go unrecognized until the age of puberty. METHODS: This study reports three patients descending from two unrelated families. We performed clinical, hormonal, histopathological, molecular, and bioinformatics studies for the studied cases. RESULTS: All investigations suggested 46,XY DSD and Leydig cell hypoplasia. Molecular analysis showed two novel homozygous inactivating mutations (p.Glu148Ter and p.Leu104Pro) within the extracellular domain of the LHCGR gene. CONCLUSION: Although the mutations of the LHCGR gene are distributed heterogeneously, without hotspot or recurrent mutations, about one fifth of the reported mutations worldwide have been detected in Arab patients. This is probably due to the high consanguinity rate in these populations, which increases the percentage of autosomal recessive disorders and the homozygous LHCGR gene mutations.

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

Congenital leptin deficiency is a rare recessive genetic disorder resulting in severe hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding leptin. To date, only two mutations have been identified in the LEP gene, Delta133G and R105W. We present the third reported mutation identified in an Egyptian patient with very low serum leptin levels and severe early onset obesity (BMI = 51). Direct sequencing of the coding region of the LEP gene revealed a novel homozygous missense mutation, N103K. The N103K mutation was not found in 100 alleles from 50 unrelated Egyptian normal-weight control subjects using polymerase chain reaction and restriction fragment length polymorphism analysis. In conclusion, this study presents the third reported mutation of the LEP gene and will provide further insight into the physiologic role of leptin in human obesity.

Upper extremity compartment syndrome in the setting of deep venous thrombosis and phlegmasia cerulea dolens: case report.

Forearm compartment syndrome is an uncommon but emergent condition that can threaten limb and life. An uncommon cause of compartment syndrome is deep venous thrombosis, usually in the setting of phlegmasia cerulea dolens of the lower extremity. We present a case of compartment syndrome secondary to venous occlusion of the upper extremity due to phlegmasia cerulea dolens in a patient with metastatic lung cancer.

Differential diagnosis of disorders of sex development in Egypt.

BACKGROUND: Disorders of sex development (DSD) with birth of an infant with ambiguous genitalia require medical attention to elucidate the differential diagnosis. This group of disorders is not uncommon in Egypt (1:3,000 livebirths). AIMS: We want to provide an extensive review of a patient collective with ambiguous genitalia from 6 years experience at the Department of Clinical Genetics at the National Research Center in Egypt. METHODS: 208 patients with ambiguous genitalia were recruited from the genetic clinic from 2000 to 2005. They were subjected to history taking, pedigree analysis. Full clinical examination, cytogenetic study, hormonal, radiological investigations, and molecular studies were performed where possible. RESULTS: 46,XY DSD was more common than 46,XX DSD constituting 65.9% of total cases. Consanguinity was high with 61% in the affected families; however, only 21 cases had a positive family history. There was preference of male sex of rearing (regardless of karyotype), despite a severe degree of ambiguity. CONCLUSION: Disorders of sex development have a broad range of underlying causes also in Egypt with some preference of rare monogenic disorders. For improving diagnostic standards, the provision of centers of tertiary pediatric care is recommended for patients with DSD even in developing countries.

The Pacific Island Health Care Project (PIHCP): experience with rheumatic heart disease (RHD) from 1998 to 2006.

Rheumatic heart disease (RHD) continues to be a major health problem in developing countries. The burden of disease in many countries, especially those of Oceania, is very high and is still the leading cause of heart-related deaths. Several factors contribute to the prevalence of RHD in the Pacific Basin including poverty, poor access to care, distance for travel, and limited resources. The Pacific Island Health Care Project (PIHCP) at Tripler Army Medical Center (TAMC) is a unique program which provides indigenous, medically under-served peoples in the United States Associated Pacific Islands (USAPIs) with definitive medical and surgical care. The program has been an important source of patients to enhance Graduate Medical Education (GME) at TAMC. Beginning in 1998, a secure, Web-based, store-and-forward telemedicine network was developed. It was ultimately deployed to 11 sites in the USAPIs. This unique platform has facilitated the selection and definitive care of Pacific Islanders at TAMC. The purpose of this study was to review our experience with RHD in patients referred from the USAPIs utilizing a unique telemedicine system. All patient records that were archived in the PIHCP database were retrospectivelyreviewed for the diagnosis of RHD from 1998 (telemedicine program began) to 2006. Descriptive analysis of the data is displayed in a tabular format. Of the 150 patient consults with RHD in the PIHCP 76 were accepted for care at TAMC and 74 came to Honolulu. Most patients were younger than 40 years of age. Almost all patients evaluated at TAMC had mitral valve involvement, and 81% of patients underwent a surgical procedure to correct the valvular disease. Our experience with RHD and its management illustrates a number of challenges that must be addressed by those who attempt to provide technically advanced care to persons from the developing world. In the case of RHD, patient selection, choice of intervention, and early return of the patient home are critical to the success of any such program. Despite these problems the PIHCP has restored many patients to health and returned them to their island homes as contributing members of society.

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Oral manifestations tend to be pathognomonic such as multiple broad labial frenula and congenital missing teeth. In this study we report three Egyptian families with six cases of EVC syndrome. An unusual pattern of inheritance with father to son or to daughter transmission was observed in 2 consanguineous families thus demonstrating pseudo-dominant inheritance, probably for the first time in the literature. A new consistent orodental anomaly found in all our cases was bifid tip of the tongue. We emphasize study of orodental anomalies in future cases for accurate diagnosis of Ellis-van Creveld syndrome and its probable differential diagnosis from Weyers acrodental dysostosis.

A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis.

Androgen insensitivity syndrome (AIS) is an X-linked disease caused by mutations in the androgen receptor (AR) resulting in various degrees of defective masculinization in 46,XY individuals. In the present study, we describe a novel mutation in exon 7 of the AR gene in an Egyptian patient with partial AIS (PAIS). Sequencing analysis of the AR gene revealed a novel missense mutation, P817A, within the ligand-binding domain (LBD). This is the first report of a mutation within the short amino acid motif (codons 815-817) of the beta-strand lying between helices H8 and H9 of the AR LBD. The functional defects of the mutated protein were characterized by in vitro study and included significantly decreased ligand-binding affinity and impaired transactivation potential. Limited proteolysis assays performed with the wild-type and mutant AR receptors incubated with the synthetic agonist R1881 revealed that the P817A mutation resulted in a reduced stabilization of the AR active conformation. Structural analyses showed that this mutation is likely to perturb the beta-sheet interaction between residues 815-817 and 911-913. This structural alteration destabilizes the position of the C-terminal extension, which contains residues critical for androgen function.

Home treadmill injuries in infants and children aged to 5 years: a review of Consumer Product Safety Commission data and an illustrative report of case.

Approximately 8700 injuries from home exercise equipment occur annually in children in the United States. Home treadmills, which have been growing steadily in popularity during the past decade, pose a specific hazard to infants and children aged 5 years or younger, a population at increased risk of injury to the upper extremities (ie, arm, forearm, wrist, hand, and fingers). The authors also provide an illustrative report of case of a 2-year-old boy whose hand injury resulted from a home treadmill. Analysis and frequency reporting of United States Consumer Product Safety Commission data for home treadmill injuries in this demographic group are presented. From January 1, 1996, to September 30, 2000, the number of home treadmill injuries reported to the National Electronic Injury Surveillance System was 1009. Three hundred of these (29.7%) were in infants and children aged to 5 years. Abrasions or contusions (or both) of the upper extremities were the most common injury. Although the number of home treadmill injuries to children being reported is low, the potential for costly and serious complications has been demonstrated previously. The authors conclude that additional home treadmill safety measures and guidelines must be established.

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

17-ß-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46,XY karyotype and low testosterone/Δ4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c.198G>A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene.