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Background: Each year, millions face natural disasters, encountering mass fatalities and severe medical issues such as crush injuries and crush syndrome. Crush syndrome, marked by acute kidney injury (AKI) and hyperkalemia, correlates with mortality. This study focuses on presenting epidemiological data on kidney disease resulting from the February 6, 2023 earthquakes centered in Kahramanmaras., Methods: This retrospective analysis included patients diagnosed with crush syndrome after the 2023 Kahramanmaras earthquakes, treated in regional hospitals or referred elsewhere in Turkey. Patient data were documented using the web-based system developed by the Turkish Nephrology Association Renal Disaster Working Group., Results: Of the 1024 analyzed patients from 46 centers, 515 (50.3%) were women. The mean age was 41 ± 16 years, with a median duration of 12 h under rubble, and the median presentation time to the first health facility was 4 h after extrication from the rubble. Upon admission, 79.8% received intravenous fluid therapy, all potassium-free. Initial serum creatinine, K + , and creatinine kinase levels averaged 2.59 ± 2 mg/dl, 5.1 ± 1 mmol/L 38,305 ± 54,303 U/L, respectively. Intensive care unit (ICU) admissions were 53.6%, with mean hospital and ICU stays of 20 and 11 days, respectively. Compartment syndrome occurred in 40.8% of patients, with 75.8% undergoing fasciotomy. Acute kidney injury developed in 67.9% of patients, with 70.3% undergoing hemodialysis, totaling 3016 sessions on 488 patients. The overall in-hospital mortality rate was 9.8%., Conclusion: Earthquakes have a significant impact on kidney health. Although our study indicates some progress compared to previous earthquake responses, there remains a crucial need for drills emphasizing post-earthquake initial response, fluid-electrolyte balance management, and emergency dialysis protocols., Competing Interests: Declarations. Conflict of interest: The authors declare no conflict of interest. Ethical approval: The study was conducted in accordance with the Declaration of Helsinki. The study protocol was reviewed and approved by Istanbul University Istanbul Faculty of Medicine Clinical Research Ethics Committee (Decision date/no: 17.02.2023/04). Human and animal rights: This study does not contain any studies with animals performed by any of the authors. Informed consent: For this type of study, formal consent is not required., (© 2024. The Author(s) under exclusive licence to Italian Society of Nephrology.)

This study investigated in-hospital outcomes and related factors in patients diagnosed with postearthquake crush syndrome after the earthquakes in Kahramanmaraş, Türkiye. One thousand twenty-four adult patients diagnosed with crush syndrome were analyzed. Data on demographic characteristics, clinical presentation, laboratory values, treatments, and outcomes were collected. A total of 9.8% of patients died during their hospital stay. Nonsurvivors were generally older, more likely to have preexisting chronic kidney disease, and faced more severe injuries and complications, including hypotension-shock, arrhythmias, elevated markers of renal dysfunction, and higher rates of acute kidney injury (AKI) and compartment syndrome. In addition, intensive care unit needs were higher. Multivariate analysis confirmed that age, injury severity, shock, high potassium, uric acid, and lactate levels on admission, development of AKI, compartment syndrome, and intensive care unit admission were significant predictors of mortality. Better disaster preparedness and improved health care infrastructure could be potential explanations for improved in-hospital mortality in the current era, as compared to previous earthquakes., (Copyright © 2024 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)

Objectives: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by the loss of expression of the paternal copy of the imprinted genes on chromosome 15q11-q13. A variety of findings have been reported on the phenotypic differences between the genetic subtypes of PWS. This article compares the clinical findings of 57 PWS patients by genetic subtype and explores possible associations in this context., Methods: Methylation‑specific multiplex ligation-dependent probe amplification and single nucleotide polymorphism microarrays were used to diagnose deletion and uniparental disomy (UPD). For phenotype-genotype correlation, clinical data were collected and genetic subgroups were compared statistically, and P  < 0.05 was considered to indicate statistical significance., Results: These 57 patients consisted of 15 type I deletions, 20 type II deletions, six atypic deletions, 11 heterodisomy UPD, four isodisomy UPD, and one translocation-type PWS. All patients had hypotonia, poor neonatal sucking, and feeding difficulties during infancy. Other PWS-related clinical findings, such as speech articulation problems (85.9%), sleep apnea (77.2%), normal birth length (71.9%), small hands/feet (71.9%), childhood polyphagia (57.9%), clinodactyly (56.1%), thick viscous saliva (54.4%), and behavioral problems (50.9%) were observed at varying rates with no statistical difference between genetic subtypes in general., Conclusion: This study highlights the phenotype-genotype associations on PWS from a cohort of Turkish pediatric patients as a single-center experience., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Crush Syndrome is a major cause of morbidity and mortality following large-scale catastrophic earthquakes. Since there are no randomized controlled studies on Crush Syndrome, knowledge on this subject is limited to expert experience. The primary objective is to analyze the epidemiological and demographic characteristics, clinical outcomes, and mortality factors of earthquake victims after the Pazarcik and Elbistan earthquakes on February 6, 2023., Methods: This cross-sectional and observational retrospective study evaluated 610 earthquake victims who presented to our center between February 6 and April 30, 2023. Among these patients, 128 with Crush Syndrome were included in the study. Patient information was gathered from hospital records during their stay and from national registries upon referral. The primary outcome was to identify risk factors for mortality. Demographic and laboratory data were analyzed by acute kidney injury (AKI) stages; mortality-affecting factors were identified through regression analysis., Results: Of the 128 Crush Syndrome patients (100 adults, 28 children), 64 were female. The AKI rate was 32.8%. Among patients with AKI, the frequency of hemodialysis requirement was 69%, and the mortality rate was 14.2%. The overall mortality rate for patients with Crush Syndrome was 4.6%, compared to 3.9% (19/482) in earthquake victims without Crush Syndrome (p=0.705). Notably, low systolic blood pressure at admission was the only factor significantly affecting mortality in Crush Syndrome patients (Hazard Ratio [HR]: 1.088, p=0.021, 95% Confidence Interval [CI])., Conclusion: Our study highlights low systolic blood pressure upon admission as a significant risk factor for increased mortality in Crush Syndrome patients. This finding may contribute to the literature by emphasizing the importance of monitoring blood pressure under rubble and administering more aggressive fluid therapy to patients with low systolic blood pressure.

Background: The aim was to evaluate the changes in the audiovestibular system in adult patients with the diagnosis of chronic renal failure who were treated with hemodialysis., Methods: Thirty-five patients diagnosed with chronic renal failure and receiving hemodialysis treatment 3 days a week and 35 healthy individuals were tested with pure tone audiometry, video head impulse test, and post-head shake nystagmus test. Dizziness Handicap Inventory was applied to all participants., Results: The Dizziness Handicap Inventory scores of the patient groups are higher than the control groups (P=.001). In the video head impulse test, there is no statistically significant difference between the patient and control groups in terms of gain asymmetry. 17.1% of the patients had both left and right lateral saccades (P=.03). A statistically significant difference was also found after the post-head shake test (P=.025). In the patient group, an inverse relationship between the presence of left anterior right posterior saccades and blood urea nitrogen-creatinine ratio and a direct relationship between the presence of right anterior left posterior saccades and creatinine elevation were determined. The presence of saccades in the video head impulse test increased significantly as the disease duration of hemodialysis patients increased., Conclusion: It was determined that the overt and covert saccades in the video head impulse test increased significantly as the creatinine increased and the duration of the disease increased in the patients with chronic renal failure. The common clinical usage of video head impulse test in monitoring the vestibular side effects of creatinine elevation and disease duration in chronic renal failure patients may be possible with future studies.

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype-phenotype correlations., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family., Case: Afghanistan descent family was affected by a novel homozygous c.362A &gt; G (p.Asp121Gly) METTL5 gene variant. This variant is predicted to be `pathogenic` by multiple in-silico tools. Patients had dysmorphic and neurodevelopmental features including intellectual disability, microcephaly, poor/absent speech, delayed walking, aggressive behavior, large/posteriorly rotated ears, broad nasal base and short stature, which seem to be the cardinal findings of the designated syndrome., Conclusions: While the data reported in these individuals indicate characteristic clinical features of METTL5 related ID syndrome, further investigations and study of additional cases are needed to improve the understanding of disease pathogenesis, and management.

POU3F3 proteins are eukaryotic transcription factors and contribute to the processes in the development of brain and kidney. Pathogenic POU3F3 variants cause a neurodevelopmental disorder called Snijders Blok-Fisher syndrome (SNIBFIS). This article reports a new SNIBFIS case harboring a novel heterozygous c.1018&#95;1019delCAinsTT (p.Gln340Leu) variant in the POU3F3 gene. This variant affects the α2 helix of POU-S domain and is predicted to be "pathogenic" by multiple in-silico tools. The proband had severe intellectual disability, hypotonia, autistic features, sleep disturbances, and dysmorphic features. The association with epilepsy and hemangioma like two of the three previously reported patients with mutations in the POU-S domain was also a remarkable finding to understand the importance of POU-S domain. This clinical report also highlights the interest of reinterpretation of molecular data and brings a new perspective to the genotype-phenotype relationship in "Snijders Blok-Fisher syndrome"., (© 2021 Wiley Periodicals LLC.)

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype., (© 2020 Wiley Periodicals LLC.)

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.

Background/aim: The aim of this study was to evaluate the clinical outcomes and identify the predictors of mortality in peritoneal dialysis patients., Materials and Methods: Medical records of all incident peritoneal dialysis (PD) patients followed up between January 2011 and May 2019 were reviewed retrospectively. All patients were followed up until death, renal transplantation, transfer to haemodialysis or the end of the study., Results: A total of 242 patients were included in the study. The incidence of peritonitis was 0.18 (ranging from 0 to 14.9) episodes per patient year. Death occurred in 28% (n: 68) of cases. Age, diabetes mellitus, malignancy and refractory heart failure were independent risk factors for all-cause mortality according to multivariate analysis. The presence of comorbid disease and diabetes mellitus and patients aged > 65 years were associated with increased risk of mortality and decreased patient survival. Peritonitis history was associated with increased risk of mortality. Between peritonitis and peritonitis-free group, there was no significant difference in Kaplan-Meier curves in terms of patient survival., Conclusion: This is the first study to define 9-year mortality predictors in PD patients in our centre. Although peritonitis is the most feared complication of PD, our study showed that peritonitis did not reduce patient survival., Competing Interests: There is no conflict of interest in this trial., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

Objectives: Kidney transplant offers an improved quality of life and prolonged survival for patients with end-stage renal disease. This study aimed to compare balance and fall risk between kidney transplant recipients and healthy adults and to determine the relationship between biochemical parameters and fall risk and balance in kidney transplant recipients. As far as we know, this is the first study in the literature that evaluated whether balance changes occur in kidney transplant recipients using the Tetrax Interactive Balance System (Sunlight Medical Ltd., Ramat Gan, Israel)., Materials and Methods: Our study included 131 kidney transplant recipients (80 male/53 female; mean age of 39 ± 12 y) and 158 healthy volunteers (86 male/69 female; mean age of 40 ± 15 y). Groups were statistically matched in age, male/female patients, and body mass index. Fall index percentages were calculated using the Tetrax posturography device. Risk of falling was compared between kidney transplant recipients and healthy participants. Kidney transplant recipients were divided into 3 groups based on risk of falling. Demographic and clinical characteristics of kidney transplant recipients were recorded, and statistical analyses were performed to analyze these parameters versus balance measurements., Results: Risk of falling was not significantly different between groups according to Tetrax measurements (32.4 ± 23.4 vs 31.6 ± 21.7; P = .08). Serum creatinine levels were significantly higher in kidney transplant recipients with a higher risk of falling (1.17 ± 0.37 vs 1.63 ± 1.18 mg/dL; P = .01). The use of oral antidiabetic drugs was shown to increase the risk of falling (P = .02)., Conclusions: Although patients with end-stage renal disease are thought to have balance impairments, kidney transplant recipients in our study had balance control similar to that shown in the healthy population. Graft function in kidney transplant recipients is important for the balance system.

Background: This study reports findings in subjects who underwent brain imaging for any reason, and examined factors influencing cerebrovascular events (CVEs) in hemodialysis (HD) patients., Methods: We reviewed the files of patients on HD between January 2015 and January 2018. A total of 432 patients who underwent HD for at least 5 months by the January 2015 and who were older than 18 years were included in the study; 264 had been examined by cerebral computed tomography or magnetic resonance imaging examination within the 3 years. Cerebrovascular pathology was detected in 139 of 264 patients., Results: Of the 139 patients, 65 (24.62%) had ischemic lesions, 25 (9.47%) had hemorrhagic lesions, and 49 (18.56%) had cerebral small vessel disease (CSVD). We compared recorded data and later clinical findings between patients with and those without CVEs. The cause of end-stage renal disease was diabetes in 58.5% of patients with ischemic lesions, 52% in those with hemorrhagic lesions, and 55% in those with CSVD (P < 0.05). Patients with cerebrovascular ischemia were older (P = 0.0001) and had lower serum creatinine (sCr) (P = 0.0001) and higher serum C-reactive protein (CRP) (P = 0.002) levels than normal subjects. Hemorrhagic patients were older (P = 0.003) and had lower sCr (P = 0.003) and serum predialysis potassium (P = 0.003) and parathyroid hormone (PTH) (P = 0.004) levels than normal subjects. Patients with CSVD were older (P < 0.0001) and had lower sCr (P < 0.0001), phosphorus (P < 0.007), and PTH (P < 0.013) and higher CRP (P < 0.002) levels than normal subjects., Conclusions: HD patients with CVEs are older and typically have diabetes mellitus and lower sCr levels.