Pediatric kidney care experience after the 2023 Turkey/Syria earthquake.

BACKGROUND/AIMS: Two earthquakes on February 6th, 2023 destroyed ten cities in Türkiye. We report our experience with pediatric victims during these catastrophes, with a focus on crush syndrome related-acute kidney injury (Crush-AKI) and death. METHOD: A web-based software was prepared. Patient demographics, time under rubble (TUR), admission laboratory data, dialysis, and kidney and overall outcomes were asked. RESULTS: 903 injured children (median age: 11.62 years) were evaluated. Mean TUR was 13 h (Interquartile range-IQR: 32.5), max 240 h). 31 of 32 patients with a TUR of >120 h survived. The patient who rescued after ten days survived.Two-thirds of the patients were given 50 mEq/L sodium-bicarbonate in 0.45% sodium-chloride solution on admission day. 58% of patients were given intravenous fluid (IVF) at a volume of 2000-3000 mL/m2 body surface area (BSA), 40% of 3000-4000 mL/m2 BSA, and only 2% of >4000 mL/m2 BSA. 425 patients had surgeries, 48 suffered from major bleeding. Amputations were recorded in 96 patients. Eighty-two and 66 patients required ventilator and inotropic support, respectively.Crush-AKI developed in 314 patients (36% of all patients). 189 patients were dialyzed. Age > 15 years, creatine phosphokinase (CK)≥20 950 U/L, TUR≥10 h, and the first-day IVF volume < 3000-4000 mL/m2 BSA were associated with Crush-AKI development. 22 deaths were recorded, 20 of 22 occurred in patients with Crush-AKI and within the first 4 days of admission. All patients admitted after 7 days survived. CONCLUSIONS: This is the most extensive pediatric kidney disaster data after an earthquake. Serum CK level was significantly associated with Crush-AKI at the levels of >20 950 U/L, but not with death. Adolescent age and initial IVF of less than 3000-4000 mL/m2 BSA were also asscoiated with Crush-AKI. Given that mildly injured victims can survive longer periods in the disaster field, we suggest uninterrupted rescue activity for at least 10 days.

Investigation of the combined cytotoxicity induced by sodium butyrate and a flavonoid quercetin treatment on MCF-7 breast cancer cells.

Quercetin (QUE) belonging to the flavonoid class is a common phytochemical present in the daily diet of some individuals. Quercetin is an important source of free radical scavengers. This property makes this flavonoid a reliable antioxidant with the following properties: anti-inflammatory, anti-diabetic, antimicrobial and anti-carcinogenic. Sodium butyrate (NaBu) acts as a histone deacetylase inhibitor (HDACi) and is known to regulate apoptosis in cancer cells. Combining natural flavonoids such as QUE with different substances may synergistically enhance their anti-carcinogenic capacity. Thus, the aim of this study was to examine the combined treatment effects of QUE and NaBu in hormone-sensitive breast cancer cells in vitro. MCF-7 breast cancer cells were treated with QUE alone, NaBu alone, as well as QUE and NaBu combined to determine the following: cell proliferation, levels of protein annexin A5 (ANXA5) and reactive oxygen species (ROS), mRNA protein expression, as well as cell and nuclear morphology. Data demonstrated that either QUE or NaBu alone inhibited cell proliferation, and reduced levels protein ANXA5, ROS and mRNA protein expression, The combination of QUE and NaBu produced a significant synergistic inhibitory effect compared to treatment groups of QUE or NaBu alone. In conclusion, our findings showed that the combination treatment of QUE and NaBu may constitute a promising therapeutic approach to breast cancer treatment but this needs further molecular and in vivo investigations.

N-myc-Mediated Translation Control Is a Therapeutic Vulnerability in Medulloblastoma.

Deregulation of neuroblastoma-derived myc (N-myc) is a leading cause of malignant brain tumors in children. To target N-myc-driven medulloblastoma, most research has focused on identifying genomic alterations or on the analysis of the medulloblastoma transcriptome. Here, we have broadly characterized the translatome of medulloblastoma and shown that N-myc unexpectedly drives selective translation of transcripts that promote protein homeostasis. Cancer cells are constantly exposed to proteotoxic stress associated with alterations in protein production or folding. It remains poorly understood how cancers cope with proteotoxic stress to promote their growth. Here, our data revealed that N-myc regulates the expression of specific components (∼5%) of the protein folding machinery at the translational level through the major cap binding protein, eukaryotic initiation factor eIF4E. Reducing eIF4E levels in mouse models of medulloblastoma blocked tumorigenesis. Importantly, targeting Hsp70, a protein folding chaperone translationally regulated by N-myc, suppressed tumor growth in mouse and human medulloblastoma xenograft models. These findings reveal a previously hidden molecular program that promotes medulloblastoma formation and identify new therapies that may have impact in the clinic. SIGNIFICANCE: Translatome analysis in medulloblastoma shows that N-myc drives selective translation of transcripts that promote protein homeostasis and that represent new therapeutic vulnerabilities.

In vitro chemo-protective effect of Eisenia foetida coelomic fluid against histone deacetylase inhibitor-induced oxidative toxicity in breast cancer cells.

Developing new drugs from natural products is important for therapeutic effects to minimise tissue toxicity of drugs used in cancer treatment. Eisenia foetida is a worm with a double transport system consisting of coelomic fluid (ECF) that can be used as alternative medicine. It is important to eliminate or reduce the high cytotoxicity of sodium butyrate (NaBu), a chemotherapeutic agent used in breast cancer treatment, for both neoplastic and normal cells. We aimed to evaluate the effect of ECF on the oxidative toxicity induced by NaBu in MCF-7 cells, changes in ROS production levels and expression of cell death and ROS-related genes. It was determined that the expression levels of Bax and Bcl-2 genes remained unchanged, while the amount of ROS decreased significantly in MCF-7 cells exposed to NaBu with ECF. Thus, ECF may be a potential therapeutic molecule with fewer side effects in cancer treatment in the future.

Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.

BACKGROUND: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a novel mutation in the SGPL1 gene causing hypocalcemia, primary adrenal insufficiency (PAI), nephrotic syndrome, subclinical hypothyroidism, lymphopenia, ptosis, and pathologic neuroimaging findings. CASE: A Turkish male infant presented with bruising at 2 months of age and was diagnosed with hypocalcemia, PAI, and subclinical hypothyroidism. At the age of 15 months, he was admitted to the hospital with ptosis. Other systemic manifestations included persistent lymphopenia and nephrotic syndrome. Magnetic resonance imaging (MRI) of the brain and orbit demonstrated asymmetric contrast enhancement in the left cavernosal sinus, orbital apex, and thinning at the bilateral optic nerve. Whole exome sequencing (WES) revealed a homozygous c.1432C > G (p.Gln478Glu) variant in the SGPL1 gene (NM_003901.4), which has not previously been reported in the literature. CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.

Comparison of infants and children with urolithiasis: a large case series.

We evaluated the demographic features, etiologic risk factors, treatment strategies, and outcome of the infants and children with urolithiasis (UL). A retrospective multicenter study was conducted including 23 Pediatric Nephrology centers in Turkey. The medical records of 2513 children with UL were reviewed. One thousand, three hundred and four boys and 1209 girls (1.1:1) were reported. The mean age at diagnosis was 39.5 ± 35 months (0.4-231 months), and 1262 patients (50.2%) were in the first year of life (infants). Most of the cases with infantile UL were diagnosed incidentally. Microlithiasis (< 3 mm) was found in 794 patients (31.6%), and 64.5% of the patients with microlithiasis were infants. Stones were located in the pelvis-calyces in 63.2% (n: 1530) of the cases. The most common stone type was calcium oxalate (64.6%). Hypocitraturia was the most common metabolic risk factor (MRF) in children older than 12 months, but in infancy, hypercalciuria was more common. Fifty-five percent of the patients had received at least one medical treatment, mostly potassium citrate. At the end of a year's follow-up, most of the patients with microlithiasis (85%) showed spontaneous remission. The rate of spontaneous stone resolution in infants was higher than in children. Spontaneous remission rate was higher in cases with MRF ( - ) stones than in MRF ( +) stones. However, remission rate with medical treatment was higher in cases with MRF ( +) stones. This study represents the results of a large series of infants and children with UL and showed that there are several differences such as underlying metabolic and anatomic abnormalities, clinical course, and stone remission rates between infants and children with urinary stone disease.

The effect of stress management training on perceived stress, anxiety and hopelessness levels of women with high-risk pregnancy.

The aim of this study was to investigate the effect of stress management training on the perceived stress, anxiety and hopelessness levels of women with high-risk pregnancy. The sample of this experimental study consisted of 206 high-risk pregnant women (intervention = 103; control = 103). Data were collected using a Personal Information Form, the Perceived Stress Scale, the Beck Hopelessness Scale and the State-Trait Anxiety Inventory. In the second follow-up after the training, there was a statistically significant difference amongst the Perceived Stress Scale, Beck Hopelessness Scale and State-Trait Anxiety Inventory mean scores in the intervention and control groups (p < .05). Perceived stress scores of the control group who did not receive training during discharge increased. The state and trait anxiety scores and hopelessness scores of the intervention group received training decreased compared with the control group.IMPACT STATEMENTWhat is already known on this subject? Mental problems such as anxiety and stress are more common in high-risk pregnancies compared with healthy pregnancies.What do the results of this study add? After the training 51.4% of women in the intervention group, 75.7% of women in the control group had stress. The state and trait anxiety and hopelessness scores of the intervention group having training decreased compared to the control group.What are the implications of these findings for clinical practice and/or further research? Health professionals should provide stress management training in high-risk pregnant women to reducing perceived stress, anxiety and hopelessness levels.

Renal manifestations in children with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous syndrome affecting various parts of the body, including the renovascular and urinary systems. We evaluated the renovascular, urinary, glomerular, and tubular functions of children with NF1. We compared blood pressures, urinary findings, and renal glomerular and tubular functions in children with NF1 with those of a healthy age- and gender-matched control group. We evaluated 46 NF1 patients and 33 healthy controls. The mean ages of the NF1 group (female/male: 20/26) and the control group (female/male: 15/18) were 10.1 ± 4.6 and 10.6 ± 4.3 years respectively. Six NF1 patients were hypertensive. The mean blood pressures of the NF1 group were significantly higher than those of the control group. Renal artery stenosis was detected in one NF1 patient. Urinary tract anomalies were evident in 21.7% of NF1 but only 9% of control subjects. The mean estimated glomerular filtration rate (eGFR) of the NF1 group was significantly lower than that of the control group. Six NF1 patients evidenced eGFRs < 90 mL/min. In the NF1 group, tubular phosphorus reabsorption was significantly lower and uric acid excretion significantly higher than in the control group.Conclusion: Hypertension, urinary tract anomalies, and impaired renal function were more common in NF1 patients than healthy controls. Regular blood pressure measurements and evaluation of urinary tract and kidney function are essential for NF1 patients. What is Known: • NF1 is most commonly associated with systemic hypertension due to renal artery vasculopathy and the development of a pheochromocytoma. • Hydronephrosis and bladder involvement have been documented in NF1. What is New: • Renal glomerular and tubular functions may be affected in NF1.

Endocan levels in children with renal hypodysplasia.

AIMS: Severe reduction in nephron numbers that are characteristic of renal hypodysplasia (RHD) are one of the cause of childhood chronic kidney disease (CKD). Glomerular hyperfiltration, glomerular hypertrophy, progressive glomerular scarring, and interstitial fibrosis due to reduced nephron number are risk factors for CKD. In recent years, studies on specific markers for early diagnosis of renal failure and mortality have been carried out. The objectives of this study were to identify serum and urinary endocan levels that are expressed in glomerular endothelial cells and tubular epithelial cells in RHD. MATERIALS AND METHODS: 29 children with RHD were compared to 26 healthy controls in terms of serum and urinary endocan levels. RESULTS: The mean serum endocan level in the RHD group and the control group was 700.72 ± 323.19 and 426.86 ± 233.14 pg/mL, respectively. The mean serum endocan level was significantly higher (p = 0.003) in the RHD group. The mean urinary endocan level in the RHD group was 63.62 ± 92.46 pg/mL, and in the control group it was 80.26 ± 142.49 pg/mL. The mean urinary endocan level did not change between groups (p = 0.95). There was also a significant correlation between serum endocan level and uric acid level in the study group (r = 0.325, p = 0.028). CONCLUSION: To our knowledge, this was the first study that evaluated serum and urinary endocan levels in children with RHD. Although serum endocan level was found to be significantly higher in patients with RHD, further studies are needed to validate whether endocan could serve as a marker of poor renal prognosis in RHD.

Fecal calprotectin levels in Helicobacter pylori gastritis in children.

BACKGROUND: Fecal calprotectin is an important inflammatory marker in intestinal diseases and is not routinely used in the upper gastrointestinal system disorders. The aim of this study was to show whether there is a relationship between fecal calprotectin levels and Helicobacter pylori (H pylori) gastritis in children and to determine the association of fecal calprotectin levels with gastric biopsy results in terms of chronic inflammation and neutrophil activity. METHODS: Patients with the complaints of the upper gastrointestinal system (epigastric pain, heartburn, nausea and vomiting) who were planned to undergo endoscopy were enrolled prospectively. The presence of H pylori was defined according to the gastric antrum biopsy results. Fecal calprotectin level was tested in the stool sample of the patients. The fecal calprotectin levels, upper gastrointestinal endoscopy and gastric biopsy results of 89 patients were evaluated. RESULTS: H pylori was found to be positive in the gastric biopsies of 51 (57.3%) patients. In the H pylori positive group mean fecal calprotectin level was 74.8 ± 67 µg/g, and in the H pylori negative group mean fecal calprotectin level was 52.7 ± 46 µg/g and the difference was significant (p= 0.039). We also found a significant relationship between fecal calprotectin levels and gastric neutrophil activity grades (p= 0.034). CONCLUSIONS: Mean fecal calprotectin levels were found to be higher in H pylori positive subjects in our study. Fecal calprotectin levels were correlated with gastric neutrophil activity grades. Fecal calprotectin represents gastric neutrophilic inflammation. When interpreting a high fecal calprotectin level, H pylori infection should be kept in mind.

A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion.

BACKGROUND: Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. CASE: Here we present a 17 -year- old adolescent refugee mother who applied to the pediatric emergency department with the complaint of diffuse abdominal pain at puerperium. The patient was hypertensive, and had convulsions after admission. Hyponatremia (serum sodium; 121 meq/L) was detected, and syndrome of inappropriate anti-diuretic hormone secretion (SIADH) was found to be the cause of hyponatremia which responded well to fluid restriction. Infectious, autoimmune and toxicologic laboratory work-up did not reveal any specific pathologies. Despite prompt utilization of analgesic treatment, the patient continued to have unbearable abdominal pain. The preference of prone position to relieve the pain and the family history of a mother who had died with similar symptoms, led us to the diagnosis of AIP. Genetic analysis showed a heterozygous mutation in hydroxymethylbilane synthase (HMBS) gene (c160+6T > A) which confirmed our diagnosis. CONCLUSION: Acute porphyrias should be considered in differential diagnosis of abdominal pain, especially when there are accompanying symptoms like hyponatremia, seizures, mental changes and hypertension.

The effect of training given to parents with mentally disabled children on their life satisfaction self-stigma of seeking help depression and stress-coping styles.

BACKGROUND: It is important to identify problem areas of parents with mentally disabled children, to support them, to address their stress sources and to effectively cope with them. The aim of this study is to evaluate the effect of training given to parents with mentally disabled children on their life satisfaction, self-stigma of seeking help, depression and stress-coping styles. MATERIAL: Families with disabled children who continued their education at the Special Education Centers in Sivas created the sample of this pre- and post-test study (with control group). The data were collected with the Satisfaction With Life Scale (SWLS), the Beck Depression Inventory (BDI), the Self-Stigma of Seeking Psychological Help Scale (SSPHS) and the Ways of Coping Questionnaire (WCQ). The scales were re-applied to the experimental group (n = 75) after the application of scales and 5-week training. Individuals in the control group were not given any training. The Mann-Whitney U test, t test and Kruskal-Wallis variance analysis were used in the evaluation of the data. RESULTS: The mean SWLS score was 19.14 ± 7.24 (min: 3; max: 31) before the training and 21.68 ± 7.39 (min: 6; max: 35) after the training. The mean BDI score was 16.92 ± 10.84 (min: 1; max: 60) before the training and 10.24 ± 7.77 (min: 0; max: 33) after the training. The mean SSPHS score was 58.18 ± 9.96 (min: 32; max: 82) before the training and 52.65 ± 14.28 (min: 28; max: 84) after the training. The mean optimistic approach score of SSPHS was 9.73 ± 2.67 (min: 2; max: 15) before the training and 10.58 ± 2.19 (min: 4; max: 15) after the training. It was determined that the difference between mean scores of the control group before and after the training was not significant (p > .05). CONCLUSION: The training has positively affected the decrease in depression and self-stigmatization, and the increase in life satisfaction and stress-coping styles after the training. It is recommended to plan research studies to identify the need for support of parents, and to structure the trainings to be given according to the results of the educational intervention researches.