Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

BACKGROUND: C3 glomerulopathy (C3G) is a complement-mediated disease. Although genetic studies are not required for diagnosis, they are valuable for treatment planning and prognosis prediction. The aim of this study is to investigate the clinical phenotypes, kidney survival, and response to mycophenolate mofetil (MMF) treatment in pediatric C3G patients with and without mutations in complement-related genes. METHODS: Sixty pediatric C3G patients were included, divided into two groups based on complement-related gene mutations. Demographic and clinical-pathological findings, treatment modalities, and outcome data were compared, and Kaplan-Meier analysis was performed for kidney survival. RESULTS: Out of the 60 patients, 17 had mutations. The most common mutation was in the CFH gene (47%). The mean age at diagnosis was higher in the group with mutation (12.9 ± 3.6 vs. 11.2 ± 4.1 years, p = 0.039). While the patients without mutation most frequently presented with nephritic syndrome (44.2%), the mutation group was most likely to have asymptomatic urinary abnormalities (47.1%, p = 0.043). Serum parameters and histopathological characteristics were similar, but hypoalbuminemia was more common in patients without mutation. During 45-month follow-up,10 patients progressed to chronic kidney disease stage 5 (CKD5), with 4 having genetic mutation. The time to develop CKD5 was longer in the mutation group but not significant. MMF treatment had no effect on progression in either group. CONCLUSIONS: This study is the largest pediatric C3G study examining the relationship between genotype and phenotype. We showed that the mutation group often presented with asymptomatic urinary abnormalities, was diagnosed relatively late but was not different from the without mutation group in terms of MMF treatment response and kidney survival.

Successful treatment of a 15 years-old obese adolescent patient with botulinum anti-toxin after gastric Botox and systemic botulism findings: a case report / Tratamiento exitoso de un paciente adolescente obeso de 15 años con antitoxina botulínica posterior a Botox gástrico y hallazgos de botulismo sistémico: reporte de un caso

Obesity is an increasingly common public health problem in children. The main goal in the fight against obesity is to prevent the development of obesity by healthy eating, increasing physical activity and reducing screen time. Patients with obesity should be treated in a multidisciplinary manner in accordance with the guidelines. In children and adolescents, applications such as gastric Botox, which are not included in the guidelines and for which there is insufficient literature information, should be avoided. Obese patients with Botulism side effects should be questioned about this application and Botulism antitoxin should be administered in appropriate cases. In this case report, we present a 15-year-old adolescent girl who developed botulism after gastric Botox administration in another medical institution and was successfully treated with Botulism antitoxin and prostigmine. (AU)

La obesidad es un problema de salud pública cada vez más común en los niños. El objetivo principal en la lucha contra la obesidad es prevenir el desarrollo de la obesidad mediante una alimentación saludable, aumentando la actividad física y reduciendo el tiempo de pantalla. Los pacientes con obesidad deben ser tratados de forma multidisciplinar de acuerdo con las guías. En niños y adolescentes deben evitarse aplicaciones como el botox gástrico, que no están incluidas en las guías y para las que no existe suficiente información bibliográfica. Los pacientes obesos con efectos secundarios del botulismo deben ser interrogados acerca de esta aplicación y la antitoxina del botulismo debe administrarse en los casos apropiados. En este reporte de caso, presentamos a una adolescente de 15 años que desarrolló botulismo luego de la administración de botox gástrico en otra institución médica y fue tratada exitosamente con antitoxina botulínica y prostigmina. (AU)

Blood pressure and heart rate monitoring in children and adolescent with Still's vibratory murmur.

BACKGROUND: Innocent heart murmur is common in healthy infants, children and adolescents. Although most cases are not pathologic, a murmur may be the manifestation of cardiovascular disease. It may also cause or be an indicator of blood pressure (BP) and heart rate (HR) changes. OBJECTIVE: This study aimed to document changes in BP and HR in children with Still's vibratory murmur (SVM). METHODS: This study included 226 children with SVM, and the control group included 138 healthy children that were age-, height- and weight-balanced. Patient files and our hospital registry system were retrospectively investigated for laboratory findings and electrocardiography and echocardiography results. In addition, we prospectively performed 24-h ambulatory BP monitoring in both groups. RESULTS: There were no statistically significant differences in 24-h, daytime and nighttime systolic BP, 24-h and nighttime diastolic BP and nighttime HR between the patient and control groups (P = ns). However, daytime diastolic BP, mean HR and daytime HR were significantly higher in patient group (P = 0.009, 0.039 and 0007, respectively). CONCLUSIONS: We believe that in the presence of a higher HR and a higher aortic diastolic BP, which may induce hemodynamic changes in the left ventricle, flow turbulence through the aortic valve may increase, increasing the probability of hearing a murmur. ambulatory BP monitoring could be useful to obtain a better picture of these parameters during the 24-h period.

First afebrile seizures: Clinical and radiological view with emergent testing.

BACKGROUND: The first afebrile seizures in children are an important and common reason for emergency department admissions. We aim to examine the presentation, laboratory/neurodiagnostic investigation, and emergency management of children with first afebrile seizures. METHODS: The retrospective study included 333 patients aged 1 month to 18 years admitted with a first afebrile seizure to the pediatric emergency department of Prof. Dr. Cemil Tascioglu City Hospital between January 2017 and January 2020. Age, gender, seizure duration and type, treatments for seizures, laboratory, neurophysiological, and radiological investigations, ward or intensive care unit hospitalizations, and antiepileptic drugs on discharge were recorded. RESULTS: The average age of the patients was 81.6 ± 62.9 months; 187 (56.2%) were male and 146 (43.8%) were female. Two hundred and sixty-one (78.4%) patients had only one seizure. In 45 (13.5%) of the patients, the seizure recurred in the emergency department. Hypoglycemia, hyponatremia, and hypocalcemia were detected in 13 (3.9%) patients. Patients with clinically significant cranial computed tomography results were at an increased risk for seizures lasting longer than 5 min. Patients with focal seizures had more recurrences, were given more antiepileptic drugs during the emergency, had better known etiology, more intensive care unit hospitalization, and greater post-discharge antiepileptic drug prescription. CONCLUSIONS: Biochemical abnormalities remain in the background in the etiology of afebrile seizures. Patients with abnormal neuroimaging on cranial tomography tended to have longer seizures. Patients with focal seizures followed a more complicated course as they had more recurrences and more hospitalization in the intensive care unit.

Children's only profession: Playing with toys.

The concepts of games and toys have a very important role in children's lives. It contributes to the development of cognitive, motor, psychosocial, emotional, and linguistic skills. It also plays a key role in raising self-confident, creative, and happy children. Therefore, attention should be paid to the concepts of games and toys, which are so important for the child to be a part of society as a healthy individual at every stage of his development. On the other hand, providing playgrounds where children can play comfortably and safely are essential in reducing the risk of accidents related to toys. All health-care components, especially pediatricians and family physicians, should take an active role in ensuring that these play processes, which are the most beautiful parts of childhood, are healthy and safe.

The relationship between epileptic seizure and melatonin in children.

OBJECTIVE: Studies about the relationship between epileptic seizures (ESs) and melatonin are limited in children and have been performed in heterogeneous patient groups and with different methods. In this study, it was planned to investigate this relationship according to seizure and epilepsy characteristics. MATERIAL AND METHODS: In 91 children with ES, serum melatonin levels were measured within half an hour following the seizure and on a seizure-free day. Seizures were categorized according to the diagnosis, semiology, etiology, duration, electroencephalography (EEG) findings, and response to treatment. Melatonin levels were compared between each group and control group. In addition, basal melatonin levels of 21 patients with electrical status epilepticus in sleep (ESES) were compared with a control group. RESULTS: Basal melatonin levels were found to be lower in children with ESs and ESES group compared with the control group (p < 0.001, p < 0.001). Likewise, similar results were obtained in subgroups except for remote symptomatic etiology, severe EEG findings, and refractory epilepsy. No significant difference was observed between basal and postseizure levels of melatonin. CONCLUSION: This is the first study to reveal the relationship between ESs and basal melatonin levels according to all the characteristics of seizure and epilepsy in the largest patient group. It also demonstrates the need for more detailed studies on the role of melatonin in the pathogenesis of both ESs and ESES, which may provide a basis for a future treatment.

Evaluation of Continuous Renal Replacement Therapy and Therapeutic Plasma Exchange, in Severe Sepsis or Septic Shock in Critically Ill Children.

Background and objective: Severe sepsis and septic shock are life-threatening organ dysfunctions and causes of death in critically ill patients. The therapeutic goal of the management of sepsis is restoring balance to the immune system and fluid balance. Continuous renal replacement therapy (CRRT) is recommended in septic patients, and it may improve outcomes in patients with severe sepsis or septic shock. Therapeutic plasma exchange (TPE) is another extracorporeal procedure that can improve organ function by decreasing inflammatory and anti-fibrinolytic mediators and correcting haemostasis by replenishing anticoagulant proteins. However, research about sepsis and CRRT and TPE in children has been insufficient and incomplete. Therefore, we investigated the reliability and efficacy of extracorporeal therapies in paediatric patients with severe sepsis or septic shock. Materials and methods: We performed a multicentre retrospective study using data from all patients aged <18 years who were admitted to two paediatric intensive care units. Demographic data and reason for hospitalization were recorded. In addition, vital signs, haemogram parameters, and biochemistry results were recorded at 0 h and after 24 h of CRRT. Patients were compared according to whether they underwent CRRT or TPE; mortality between the two treatment groups was also compared. Results: Between January 2014 and April 2019, 168 septic patients were enrolled in the present study. Of them, 47 (27.9%) patients underwent CRRT and 24 underwent TPE. In patients with severe sepsis, the requirement for CRRT was statistically associated with mortality (p < 0.001). In contrast, the requirement for TPE was not associated with mortality (p = 0.124). Conclusion: Our findings revealed that the requirement for CRRT in patients with severe sepsis is predictive of increased mortality. CRRT and TPE can be useful techniques in critically ill children with severe sepsis. However, our results did not show a decrease of mortality with CRRT and TPE.

Reduced cerebrospinal fluid levels of interleukin-10 in children with febrile seizures.

PURPOSE: The exact etiology of febrile seizures (FS) is still unclear. However, it is thought that cytokine network activation may have a causative role. Therefore, this study aimed to evaluate the levels of interleukin-12 (IL-12) as a proinflammatory cytokine, interleukin-10 (IL-10) as an anti-inflammatory cytokine, and interferon-ß (IFN-ß), a marker of toll-like receptor-3 activation as a host response to viruses. These cytokine levels were analyzed in the cerebrospinal fluid (CSF) of children after a FS. METHODS: With the approval of the Human Research Ethics Committee, 76 patients with FS, who underwent lumbar puncture (LP) for the exclusion of central nervous system (CNS) infection, and who didn't have CSF pleocytosis, were included in the study. The control group consisted of 10 patients with similar ages, with an acute febrile illness and who required LP to exclude CNS infection. The analyses were made by the enzyme-linked immunoassay method. RESULTS: Age, gender distribution and CSF IL-12 and IFN- ß levels did not differ, but CSF IL-10 levels were significantly lower in the FS group as compared to the control group (0.78 ± 4.5 pg/ml, versus 27 ± 29 pg/ml, p < 0.0001). CONCLUSION: The low-level of CSF IL-10, considering its anti-inflammatory properties, may play a role in the etiopathogenesis of FS.

Epidemiology, pathophysiology, clinical evaluation, and treatment of carbon monoxide poisoning in child, infant, and fetus.

Carbon monoxide (CO) poisoning is one of the most common types of poisoning causing death worldwide. In our country, it occurs particularly during winter as a result of leak from stove or water heater, or as result of inhalation during a fire. Although most poisonings occur accidentally, some cases are suicide attempt. As CO is a substance that is not visible and has no taste or smell and is therefore difficult to detect, the gas can be a "silent killer" that is not noticed until effects develop. CO reacts with oxygen, creating carboxy hemoglobin (COHb), which leads to tissue hypoxia. In addition, it has direct effect of causing cellular damage. Although symptoms of acute poisoning are most commonly observed in patients admitted to emergency rooms, effects of chronic exposure to CO can also seen. Clinically, although it affects all organ systems, involvement of central nervous system (CNS) and cardiovascular system is predominant. Most common poisoning symptoms are weakness, dizziness, headache, nausea, and nonspecific flu-like symptoms, like vomiting. Depending on severity of exposure, seizures, syncope, and arrhythmia may also be observed. In pregnant women, fetus can be harmed with relatively low level of COHb. Poisoning in infants has a more severe course than seen in other age groups. Symptoms must be associated with cause of poisoning, and careful anamnesis and treatment must be conducted quickly. Oxygen is the antidote for CO. It is administered through a mask in the form of normobaric oxygen therapy or through specific devices in the form of hyperbaric oxygen therapy. In this review, clinical data and current diagnostic and therapeutic approaches concerning CO poisoning are discussed.