World journal of clinical pediatrics最新文献

Background: The management of caustic esophageal burns in the pediatric population has changed over the years, while the most optimal management with regards to effectiveness, availability, and cost-beneficent stays controvertible.

Aim: To describe how to utilize a chest tube for esophageal stenting in pediatrics.

Methods: Data regarding the etiology, treatment, and complications of caustic injury in pediatrics over 10 years was collected retrospectively. Furthermore, data regarding the patient's follow-up who underwent esophageal chest tube (ECT) were collected. The ECT was prepared by carving a narrowed section in the chest tube while maintaining the radiopaque section. The ECT will then be positioned from the cricopharyngeal and exited through the nostril and fixed on the patient's cheek.

Results: During the period of our study, data from 57 patients with an average age of 2.5 years (range 1-12; SD = 1.7) were obtained. The results showed that 89% of esophageal injury was due to alkaline and 9.4% were caused by acidic agents. The treatment methods showed that 29 patients (50.8%) recovered with dilatation alone. In 16 patients (28.06%), the esophageal repair was performed by using the colon, and in 5 patients (8.7%), other surgical methods were used and in 7 patients (12.2%), the ECT stents were used. ECT was inserted in 7 cases with a mean age of 2 (range: 1.5-3) years who were classified as grade IIB or III. Grading was performed by endoscopy assessment on the first day. Antibiotics and corticosteroids were administrated as initial medical management for all patients. ECT implantation was done during the first 8 d for 5 out of 7 cases (mean: 3.8 d). For the 2 patients, ECT was used after 27 (patient 6) d and 83 (patient 7) d. The reason for late stenting in these patients was a postponed referral to our center, in which patient 7 even received 4 dilation episodes before visiting our center. ECT was removed after an average of 44 d in the first 5 patients, while in the other 2 patients (6 and 7) was 2 and 1 wk, respectively. There was no complication related to, or failure of, stent placement. It is worth mentioning that none of the 7 ECT cases required gastrostomy or jejunostomy.

Conclusion: The ECT method introduced in our study can be used as a broadly available, economic, and easy-use facility for esophageal stenting, particularly in developing countries and emergency departments which have limited access to modern equipment. Further multicenter studies with higher volume patients are required for further deployment of this method.

Constipation in children is a major health issue around the world, with a global prevalence of 9.5%. They present to clinicians with a myriad of clinical signs. The Rome IV symptom-based criteria are used to diagnose functional constipation. Functional constipation is also a huge financial burden for healthcare system and has a detrimental impact on health-related quality of life of children. There are various risk factors identified globally, including centrally connected factors such as child abuse, emotional and behavioral issues, and psychological stress. Constipation is also precipitated by a low-fiber diet, physical inactivity, and an altered intestinal microbiome. The main pathophysiological mechanism is stool withholding, while altered rectal function, anal sphincter, pelvic floor, and colonic dysfunction also play important roles. Clinical evaluation is critical in making a diagnosis, and most investigations are only required in refractory patients. In the treatment of childhood constipation, both nonpharmacological (education and de-mystification, dietary changes, toilet training, behavioral interventions, biofeedback, and pelvic floor physiotherapy), and pharmacological (osmotic and stimulant laxatives and novel drugs like prucalopride and lubiprostone) interventions are used. For children with refractory constipation, transanal irrigation, botulinum toxin, neuromodulation, and surgical treatments are reserved. While frequent use of probiotics is still in the experimental stage, healthy dietary habits, living a healthy lifestyle and limiting exposure to stressful events, are all beneficial preventive measures.

Diabetic ketoacidosis (DKA) in children may lead to acute kidney injury (AKI). Among 45 children with DKA in our center, eight cases had AKI on admission, and in one child, his kidney function did not recover until 3 mo after discharge. This child was treated with antibiotics (cephalosporin), and we cannot rule out delayed AKI recovery due to the combined effects of the drug and the disease. Pediatricians should be concerned about the impact of nephrotoxic drug and disease interactions on children's kidney function, and need to follow up children with DKA and AKI to determine the development of AKI.

Background: A leukocyte adhesion defect (LAD) is a rare primary immunodeficiency disorder. LAD type 1 (LAD-1) is the most common, which is caused by ITGB2 mutation resulting in dysfunction of β2 integrin, which impairs leukocyte adherence to the endothelium.

Case summary: The first two cases of LAD-1 in Thailand presented with recurrent omphalitis, soft tissue infection, marked leukocytosis, and neutrophilia. One patient experienced delayed umbilical cord separation. Mutation analysis was performed by direct DNA sequencing of the ITGB2 gene. The results revealed two novel homozygous missense mutations, c.920C>T (p.Leu307Pro) in exon 8 and c.758G>A (p.Arg253His) in exon 7, and one novel homozygous nonsense mutation, c.262C>T (p.Gln88Ter) in exon 4, in the genomic DNA of the first and second patients, respectively. Heterozygous mutations were identified in the parents of both patients, suggesting a carrier status. The patients were administered intravenous antibiotics for infections with good clinical responses. Hematopoietic stem cell transplantation could not be performed due to the unavailability of matched donors. However, a significant decline in infections was observed after antibiotic prophylaxis. Several follow-up visits were conducted for both patients. They are currently 6 years old.

Conclusion: Molecular analysis is essential for definitive diagnosis, early treatment implementation, and prevention of LAD-1 in future pregnancy.

Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects. Most commonly children are affected with gastrointestinal symptoms, feeding issues, aversion to sweets and hypoglycemia. Liver manifestations include an asymptomatic increase of transaminases, steatohepatitis and rarely liver failure. Renal involvement usually occurs in the form of proximal renal tubular acidosis and may lead to chronic renal insufficiency. For confirmation, a genetic test is favored over the measurement of aldolase B activity in the liver biopsy specimen. The crux of HFI management lies in the absolute avoidance of foods containing fructose, sucrose, and sorbitol (FSS). There are many dilemmas regarding tolerance, dietary restriction and occurrence of steatohepatitis. Patients with HFI who adhere strictly to FSS free diet have an excellent prognosis with a normal lifespan. This review attempts to increase awareness and provide a comprehensive review of this rare but treatable disorder.

Background: Cardiovascular diseases have a high prevalence in adults and their development begins in the first decades of life. On the other hand, sports participation in childhood and adolescence provides benefits which can delay the onset of these diseases.

Aim: To synthesize the available literature on the impact of sports participation on cardiovascular outcomes in children and adolescents.

Methods: This systematic review was conducted on studies of children and adolescents (aged 8-18 years) who regularly practiced a sport and had reported cardiovascular outcomes (blood pressure and intima-media thickness) recorded. The Medline/PubMed, SciELO, Reference Citation Analysis (https://www.referencecitationanalysis.com/) and Bireme databases were searched.

Results: In total, 3314 publications for blood pressure and 122 publications for intima-media thickness were identified in the databases. After exclusions (e.g., duplicate articles, animal studies and those that did not meet the inclusion criteria), four publications for blood pressure (449 adolescents) and two publications for intima-media thickness were included (402 adolescents). For blood pressure, all publications were longitudinal in design (follow-up ranging from 12 wk to 12 mo) and involved adolescents aged from 8 years to 18 years of age. For intima-media thickness, both publications were longitudinal in design and involved adolescents aged from 11 years to 18 years of age.

Conclusion: Sports participation seems to promote benefits to cardiovascular structure and function in adolescents. However, studies with adolescents are scarce and further research is needed to understand this phenomenon.

Background: Inflammatory bowel disease (IBD) can lead to social and economic impacts worldwide. In Brazil, where its adult prevalence is increasing, the epidemiology of the pediatric population is not well known, although there is a documented increase in pediatric IBD incidence worldwide. Brazil has continental dimensions, and Espírito Santo is a state of southeastern Brazil, the region with the highest demographic densities and is the economically most important in the country.

Aim: To assess the prevalence, incidence, phenotype and medications in a Southeastern Brazilian pediatric population.

Methods: Data were retrieved from the Public Medication-Dispensing System of the Department of Health in Espírito Santo state from documentation required to have access to highly expensive medication from August 1, 2012 to July 31, 2014. There were 1048 registered patients with IBD of all ages, and of these patients, the cases ≤ 17 years were selected. The data were obtained through the analysis of administrative requests for these medications and included medical reports, endoscopy exams, histopathology and imaging tests, which followed the Clinical Protocols and Therapeutic Guidelines of the Brazilian Government. Only confirmed cases of IBD were included in the study.

Results: There were 55 pediatric patients/1048 registered patients (5.34%), with Crohn's disease (CD) representing 30/55 (55%), ulcerative colitis (UC) 24/55 (43.6%) and 1 unclassified IBD, a significant difference from adult patients (P = 0.004). The prevalence of IBD in pediatric patients was 5.02 cases/100.000 inhabitants; the incidence in 2014 was 1.36 cases/100.000 inhabitants. The mean age at diagnosis was 12.2 years (± 4.2). There were 7 children diagnosed up to 6 years old, 7 between 7 to 10 years old and 41 between 11 and ≤ 17 years old. There was no difference in the distribution of UC and CD between these age categories (P = 0.743). There was no difference in gender distribution in relation to adults. Children and adolescents with UC had a predominance of pancolitis, unlike adults (P = 0.001), and used aminosalicylates and immunomodulators for their treatment. Pediatric patients with CD did not present a difference in disease location but had a higher frequency of fistulizing behavior (P = 0.03) and perianal disease phenotype (P = 0.007) than adult patients. Patients with CD used more immunomodulators and biological therapy. Treatment with biological therapy was more frequently used in pediatric patients than in adults (P < 0.001).

Conclusion: Although the data from this study demonstrate that incidence and prevalence rates are low in southeastern Brazil, these data demonstrate the severity of IBD in pediatric patients, with the need for early diagnosis and therapy, avoiding serious damage.

Background: Lysinuric protein intolerance (LPI) is an inborn error of metabolism consequential to recessive mutations in the SLC7A7 gene. The metabolic imbalance in absorption and excretion of dibasic amino acids is considered the basis of LPI. The disease results from protein intolerance with signs and symptoms oscillating from cerebral impairment, respiratory involvement, renal failure and autoimmune complications.

Aim: To determine biochemical and clinical presentation of cases with biochemical picture suggestive of LPI in Pakistani children.

Methods: The study was conducted at the Biochemical Genetic Lab, Department of Pathology and Laboratory Medicine, AKU Plasma, and urine amino acid quantification data from January 2013 to October 2018 was included in this study. The amino acids were analyzed by high performance liquid chromatography. Prestructured requisition forms were used to obtain the clinicopathological data. Statistical analysis was done by Microsoft Excel 2017.

Results: A total of 6 patients were recognized. All the patients were male (100%). The mean age was 24 mo ± 10 d. All the patients had low plasma concentration of lysine, ornithine and arginine, whereas increased levels of lysine, ornithine and arginine in urine were observed in 2 patients. History of consanguineous marriage was present in all patients (100%). The most observed clinical symptom was feeding difficulty followed by failure to thrive (83.3%) and developmental delay (66.6%). Hepatomegaly was present in all patients (100%). No mutation analysis was done.

Conclusion: This study portrays the biochemical and clinical spectrum of LPI in Pakistan. Although clinical manifestations appeared in the first 2 years of life, most of them suffered a delay in undergoing diagnostic workup.

Background: Irritable bowel syndrome (IBS) is a highly prevalent gastrointestinal disorder in children and adults, which increased over the past twenty years. The Mediterranean diet is a well-known diet full of antioxidants and anti-inflammatory ingredients.

Aim: To evaluate the safety, tolerability, and effects of adherence to the Mediterranean diet on disease patterns in children and adolescents with IBS.

Methods: This prospective, cross-sectional case-controlled study included 100 consecutive IBS patients diagnosed according to Rome IV criteria, aged 12-18 years. Patients were subdivided into two groups (50 patients each); Group I received a Mediterranean diet, and Group II on their regular diet for six months. Besides IBS scores (IBS-SSS, IBS-QoL, and total score), different clinical and laboratory parameters were evaluated at the start and end of the study.

Results: The Mediterranean diet was safe and well-tolerated in IBS patients. IBS children and adolescents with good adherence to the Mediterranean diet (KIDMED Score ≥ 8 points); group I showed significant improvement in IBS scores. IBS-SSS in the Mediterranean diet group was 237.2 ± 65 at the beginning of the study and decreased to 163.2 ± 33.8 at the end of the study (P < 0.001). It did not show a significant improvement in the group with a regular diet (248.3 ± 71.1 at the beginning of the study compared to 228.5 ± 54.3 at the study end with P < 0.05). The mean IBS-SSS in the Mediterranean diet group significantly improved compared with the group with a regular diet. Mean IBS-QoL in group I improved from 57.3 ± 12.9 at the start of the study to 72.4 ± 11.2 at the study end (P < 0.001) and significantly improved when compared to its level in group II at the study end (59.2 ± 12.7 with P < 0.001), while group II showed no significant improvement in IBS-QoL at the study end when compared to the beginning of the study (59.2 ± 11.7 with P >0.05). The mean total IBS score in group I became 28.8 ± 11.2 at the end of our study compared to 24.1 ± 10.4 at the start (P < 0.05) and significantly improved when compared to its level in group II at the end of the study (22.1 ± 12.5 with P < 0.05), while in group II, non-significant improvement in the total score at the end of our study compared to its mean level at the start of the study (22.8 ± 13.5 with P > 0.05).

Conclusion: The Mediterranean diet was safe and associated with significant improvement in IBS scores in children and adolescent patients with IBS.

Background: Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. It has been known that human leucocyte antigen (HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes.

Aim: To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients.

Methods: Patients with biopsy-proven CD and their siblings were included in the study; those who did not have HLA genotyping were excluded from the study. All siblings were on a gluten-containing diet. The HLA genotyping, tissue transglutaminase antibody IgA antibody test, and total IgA test were performed in all participants.

Results: A total of 57 celiac patients and their 112 siblings were included in the study. The mean age of celiac patients and siblings were 10.30 ± 3.87 years and 9.90 ± 6.11 years, respectively. HLA-DQ2/DQ8 alleles were detected in 98.2% of patients with CD and 90.2% of siblings of celiac patients. HLA-DQ genotypes were present in all siblings diagnosed with CD. Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings. CD was diagnosed in 12 siblings (10.7%) by intestinal biopsy.

Conclusion: The prevalence of CD was found to be 10.7% in siblings of celiac patients in our study. One-third of the siblings diagnosed with CD were asymptomatic. We detected HLA-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. In addition, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Therefore, we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination. Since the risk of developing CD is much higher in asymptomatic siblings, we recommend that siblings should be screened for CD even if they are asymptomatic.