Treatment of septic shock in two pediatric patients with severe diabetic ketoacidosis using invasive hemodynamic monitoring: a case report.

BACKGROUND: Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus. DKA associated with shock is a rare condition that occurs due to the fluid deficit or septic shock. It is not easy to differentiate these two conditions by clinical judgment and laboratory findings. Although the fluid therapy is the mainstay in DKA treatment, it looks like a double-edged sword-underhydration may result in organ failure whereas overhydration may lead to pulmonary and cerebral edema (CE). CASE PRESENTATION: Herein, we report on two pediatric patients presenting with DKA and septic shock. The first patient was an 8-year-old boy newly diagnosed with type 1 diabetes mellitus (T1DM) who presented with DKA and septic shock. We used a device for continuous hemodynamic monitoring (proAQT) to estimate his volume status. The patient was extubated 48 hours of hospitalization; the DKA was resolved after 52 hours of admission. He was discharged home in good condition on the 5th day. The second patient was a 13-year-old girl, a known case of T1DM, who presented with mixed DKA- hyperosmolar-hyperglycemic state (HHS) and septic shock. She was intubated and treated according to the data derived from pulse Contour Cardiac Output (PiCCO). After 3 days, she was extubated and transferred to the ward in good condition. CONCLUSION: Using invasive hemodynamic monitoring in critically ill children with severe DKA and hypotension might guide the physicians for hydration and selecting the most appropriate inotrope.

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. CASE PRESENTATION: A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. CONCLUSION: We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.

Large congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report.

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.

A Comparison of the Effect of Kegel Exercises and Conventional Therapy versus Conventional Therapy Alone in the Treatment of Functional Constipation in Children: A Randomized Clinical Trial.

Background: There have been few studies on the effect of Kegel exercises on the treatment of functional constipation in children. Hence, the present study investigated the add-on role of Kegel exercises in children with functional constipation. Methods: This clinical trial was conducted on children with functional constipation, according to Rome IV, who were referred to the pediatric department of Imam Reza Clinic (Shiraz, Iran) in 2022. The sample consisted of 64 children who were randomly assigned to either the intervention or the control groups. In the control group, a pediatrician administered conventional therapy, including diet training, defecation training, and polyethylene glycol (PEG) syrup (0.7 g/Kg daily). In the treatment group, in addition to conventional therapy, a pediatrician taught Kegel exercises to the child both verbally and in writing in the presence of their parents. To investigate the effectiveness of the intervention, frequency of defecation, defecation time, assistance used for defecation, incomplete emptying, unsuccessful defecation, abdominal pain, and painful defecation were selected as the outcomes. Independent sample t test was used for continuous variables. Categorical variables were reported as frequency and percentages. To examine the difference in categorical outcome variables, Wilcoxon (pre and post), Chi square, and Fisher exact tests were used. Data were analyzed using SPSS software version 21. P<0.05 were considered statistically significant. Results: Twenty-seven (88.4%) patients in the Kegel exercise group reported a defecation time of less than 5 min, while only 12 (37.5%) patients in the control group reached this time, and this difference was statistically significant (P=0.001). Moreover, patients in the treatment group showed significant improvements in terms of incomplete emptying of stool, unsuccessful defecation, abdominal pain, and painless defecation (P=0.001, P=0.001, P=0.001, P=0.037, respectively). After intervention, the use of laxatives, digits, or enemas to assist defecation was not significantly different between the groups (P=0.659). Conclusion: Kegel exercise was an effective adjunctive treatment for pediatric functional constipation.Trial Registration Number: IRCT20230424057984N1.

An Update of Helicobacter pylori Prevalence and Associated Risk Factors in Southern Iran: A Population-Based Study.

BACKGROUND: The childhood period is considered to be the primary period for acquisition of the Helicobacter pylori. The high prevalence rates from developing countries are associated with gastric cancer. A decreasing trend of its prevalence has been reported from different parts of the world. Determining the prevalence rate could be important in choosing preventive strategies. This study aimed to determine the prevalence of H. pylori among a group of children from southern Iran to provide an update on the current status of the disease. METHODS: This is a cross-sectional population-based study conducted in Shiraz, southern Iran, from January 2014 to December 2015. Four groups including neonates, children aged 6 months to 3 years, 10- and 15-year-old children were included. Multi-monoclonal stool antibody test was used for diagnosis. RESULTS: Among 436 participants, 24.8% (95% CI: 20.8-29.1) had a positive test for H. pylori: 25% in neonates (95% CI: 16.2-36.1), 22% in children aged 6 months to 3 years (95% CI: 15.2-30.2), 19.5% in the 10-year-old (95% CI: 12.3-29.4), and 29.2% in 15-year-old children (95% CI: 21-39). Sex, age, number of siblings, owning a pet, parents' smoking status, parental education, residential area, birth weight, and feeding status were not found to be statistically significant predictors of H. pylori antigen positivity (P > 0.05). CONCLUSION: The prevalence of H. pylori was estimated to be low in southern Iran in comparison with previous reports or other developing countries. Preventive strategies with respect to low prevalence rates may be considered in the childhood period.

Outcome of patients with psychogenic nonepileptic seizures with limited resources: A longitudinal study.

PURPOSE: The aim of the current study was to investigate the long-term outcome of patients with psychogenic nonepileptic seizures (PNES) and factors potentially associated with their outcome in Iran. METHODS: We investigated all patients with PNES admitted to the epilepsy monitoring unit at the Shiraz Comprehensive Epilepsy Center from 2008 through 2013. Patients included in this study had a confirmed diagnosis of PNES. In a phone call interview to the patients in December 2017, we obtained the following information: seizure outcome (seizure-free during the past 12 months or not), history of receiving any psychotherapy after confirming their diagnosis in the past, and number of psychotherapy sessions the patient had received. RESULTS: Eighty-six patients (54 females and 32 males) met the inclusion criteria. Seventy-four (86%) patients did not receive appropriate psychotherapy. Forty-seven (54.7%) patients were seizure-free during the past 12 months. Age at onset (P = 0.02), education (P = 0.01), and taking psychiatric drugs (P = 0.007) were associated with this outcome. CONCLUSIONS: Resources to treat patients with PNES are limited in Iran; however, more than half of the patients became free of seizures. Lower education, comorbid psychiatric problems, and a later age at the onset of seizures may affect the seizure outcome in patients with PNES. Well-designed multi-center cross-cultural long-term studies should address factors associated with outcome in patients with PNES, considering that seizure frequency should not be the only outcome measure.