Objectives: Obesity is one of the most common diseases of children across the globe with repercussion because of comorbidities like diabetes for the future followed by premature deaths. We aimed to report the world first case of robotic-assisted mini-gastric by-pass in 15 years old boy to treat diabetes and obesity. Surgical technique and review of the literature has been presented. Patient and Methods: Fifteen years old male with Body Mass Index (BMI) 58.6 at 125 percentile, and the patient was followed by dietetic counseling and with increasing metformin dosage treatment because of insulin resistance in his country. After 3 years of follow up the patient’s treatment was not successful and therefore the family addressed to our obesity council. Our genetic consultant assured the boy doesn’t have MC4R mutation. Other endocrinologic comorbidities was evaluated by a pediatrician specialist on obesity and referred to a pediatric endocrinologist. The Type 2 diabetes was diagnosed. Robotic assisted mini-gastric by-pass was planned. Under general anesthesia five instrument ports were placed. Then the robot was docked. The stomach was divided with stapler at the junction of the body and antrum, at a location where the jejunal loop can be brought up comfortably. The jejunal loop is brought up antecolic, and the stapler is used to anatomose the stomach and the small bowel at this point. The distal end of the gastric tube is anastomosed to the side of the small bowel. Methylene blue was given to ensure there was no leakage at the anastomosis and the stapling sites. The antidiabetics were stopped by the operation. The patient was followed for a month with a normalization of blood glucose levels and without medical nor surgical complication. Results: Operative time was 105 minutes. No intraoperative complication was encountered. The patient started walking 6 hours postoperatively. The first postoperative day glucose levels were within the normal limits. Oral contrast CT demonstrated neither leakage nor obstruction on the first day. Patient started oral intake within 24 hours and was discharged in 3 days without any postoperative complication. After 1 month of follow up we didn`t saw any perturbation on blood glucose level. Conclusion: Robotic-assisted mini gastric by-pass is feasible in diabetic children. The main postoperative advantages are early recovery, less pain and better cosmesis with a easily revisable and reversible operation.
Ornithine transcarbamylase deficiency (OTCD) is the most common X-linked hereditary disorder of urea cycle disorders that is caused by neonatal hyperammonemia. OTC gene sequence variations are common causes of OTCD. The current study presents a 28-month-old baby girl proband with phenotypical characteristics of OTCD such as irritability, somnolence, intermittent vomiting, and high levels of serum ammonium. Whole-exome sequencing revealed a de novo c.275G > A p. (Arg92Gln) variant within the OTC gene. In silico analysis revealed a possible differential affinity between wild-type and mutant OTCase, while Arg92Gln decreases the binding ability of OTCase to the substrate, which can disrupt the urea cycle and explains the molecular pathogenicity of clinical hyperammonemia. In light of the fact that the genotype and phenotype correlation of OTCD is still uncertain, the present in silico analysis outcome can enhance our knowledge on this complicated, rare, and severe genetic disorder.
Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. The prevalence of SKS, with 27 patients reported so far, is still unknown. Rubinstein Taybi Syndrome Type 2 (RSTS2) is another rare genetic condition that prevalance is <1/1.000.000. It is characterized by mental and developmental retardation, dysmorphic findings. We present a seven-year-old girl who was diagnosed with SKS and RSTS2 based on identification of a novel de novo pathogenic variant in the MTOR and EP300 genes (MIM #616638 and #613684) by Whole Exome Sequencing and supported by some characteristic clinical features. In our patient, pathogenic mutations belonging to two different ultra-rare syndromes were found. However, the patient had clinical findings of only Smith Kingmore Syndrome among the syndromes. Although he had a pathogenic mutation, she did not have the clinical findings of Rubinstein Taybi Syndrome. This the first case presenting two different mutation of these two ultra-rare syndromes.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.