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.

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.

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.

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.

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.

Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development.

Ovotesticular disorder of sexual development (OT-DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In this report, we present clinical, cytogenetic and molecular data of an Egyptian patient with ambiguous genitalia and OT-DSD, who had a unique karyotype comprising 3 different cell lines: mos 46,X,dic(X;Y)(p22.33;p11.32)/45,X/ 45,dic(X;Y)(p22.33;p11.32). This mosaic karyotype probably represents 2 different events: abnormal recombination between the X and Y chromosomes during paternal meiosis and postzygotic abnormality in mitotic segregation of the dic(X;Y) chromosome, resulting in a mosaic karyotype. The presence of the sex-determining region Y (SRY) gene explains the development of testicular tissue. On the other hand, other factors, including the presence of a 45,X cell line, partial SRY deletion, X inactivation pattern, and position effect, could be contributed to genital ambiguity. Explanation of the patient's phenotype in relation to the genotype is discussed with a literature review. We conclude that FISH analysis with X- and Y-specific probes and molecular analysis of the SRY gene are highly recommended and allow accurate diagnosis for optimal management of cases with ambiguous genitalia.

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.

The periumbilical approach in ventriculoperitoneal shunt placement: technique and long-term results.

OBJECT: The aim of this study was to examine the feasibility and safety of ventriculoperitoneal (VP) shunt placement using a periumbilical approach for distal peritoneal access. By using this minimally invasive approach, the authors hypothesized that the cosmetic outcomes would be better than could be achieved by using a traditional minilaparotomy and that clinical results would be comparable. METHODS: A periumbilical approach was used for distal catheter insertion during a first-time VP shunt placement in 20 patients (8 males and 12 females). Median age at time of surgery was 3.0 months (range 7 days-11.9 years) and mean follow-up time was 17.8 months (range 1.2-28.0 months). The median weight of the patients was 3.99 kg (range 1.95-57.0 kg). A single incision was made along the natural crease inferior to the umbilicus. The linea alba was exposed and a 1-mm incision made while the patient was temporarily held in a Valsalva maneuver. A peritoneal trocar was then inserted through the fascial incision and the distal catheter was passed into the peritoneal space. RESULTS: The incision line in all patients healed well, did not require operative revision, and was described as minimally visible by the patients' families. Mean operative time was 35 minutes. Eight patients required revision surgery. One distal failure occurred when the distal shunt tubing retracted and became coiled in the neck; this was repaired by conversion to a minilaparotomy for distal replacement. There was 1 shunt infection (5%) requiring shunt removal and replacement. One patient had significant skin thinning around the valve and proximal catheter, which required replacement of the entire shunt system, and another patient underwent a conversion to a ventriculoatrial shunt due to poor peritoneal absorption. In the remaining 4 patients who required operative revision, the peritoneal portion of the shunt was not involved. CONCLUSIONS: The periumbilical approach for peritoneal access during VP shunt placement is technically feasible, has low infection rates, and has cosmetically appealing results. It may be considered as an alternative option to standard VP shunt placement techniques.

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.

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

We describe a 5 2/12 years old male patient with a de novo deletion 1q43q44 of approximately 10.4 Mb in size. The boy presented with the classic features of chromosome 1q43q44 deletion syndrome including growth and psychomotor retardation, microcephaly, distinct facial features and various midline defects as agenesis of corpus callosum, cardiac and urogenital anomalies. Fronto-parietal simplified gyral pattern was an additional neuroimaging finding. The urogenital anomalies in our patient were remarkable in form of bladder exstrophy and severe hypogenitalism with a marked hypoplastic scrotum, small sized retractile testis and absent phallus. To the best of our knowledge, bladder exstrophy and absence phallus have not been previously reported in terminal deletion 1q43q44 syndrome. This report provides further evidence of phenotype-genotype correlation and expands the phenotypic spectrum of midline defects described with this syndrome.

Use of the implantable Doppler in free tissue breast reconstruction.

In this article, the authors discuss the advances in monitoring free tissue transfers, with a focus on the implantable Doppler system. Authors address indications and techniques for implanting the Doppler system, in addition to presenting a framework to assess the reliability and potential benefits of the implantable Doppler device.

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.

A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients.

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.

Screening of genital anomalies in newborns and infants in two egyptian governorates.

BACKGROUND: External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications. AIM: To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah governorates. SUBJECTS AND METHODS: 20,000 newborns and infants up to the age of 6 months coming for compulsory vaccination at primary health care units and centers in Great Cairo and Qalyubiyah governorates were examined in the years 2006-2007 for suspected genital anomalies. RESULTS: There were 187 (93.5/10,000) cases with external genital anomalies among the screened 20,000 participants. Various abnormalities in the form of 46,XY DSD, undescended testis, hydrocele, hypospadias, micropenis, synechia of the labia and other genital anomalies were diagnosed and classified after thorough clinical examination, and hormonal, radiological, and laparoscopic investigations. CONCLUSION: This first pilot study in Great Cairo and Qalyubiyah governorates showed a relatively high incidence of genital anomalies and DSD. Therefore, we recommend more studies including larger population sizes to detect the actual incidence of genital anomalies and DSD in Egypt in order to serve those patients and their families.

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.

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.