Search Results (115)

Background/Objectives: We aimed to report three novel MAGED2 variants associated with transient antenatal Bartter syndrome (TABS) and to summarize the prenatal and postnatal features of MAGED2-related TABS through case analysis and literature review. Methods: Three unrelated Chinese families with polyhydramnios-affected pregnancies underwent genetic testing. Clinical data, including prenatal imaging, delivery details, and postnatal outcomes were reviewed. A literature review of reported MAGED2 variants and associated phenotypes was conducted. Results: Three previously unreported MAGED2 variants were identified: two frameshift variants (c.1511del [p.Gly504Alafs*72] and c.338del [p.Pro113ArgfsTer4]) and one deletion (chrX:54,820,664–54,839,053 [GRCh37]). All fetuses presented with polyhydramnios; two were large for gestational age (LGA). Additional findings included ventriculomegaly and scrotal enlargement. Two male infants were delivered at 33 weeks following repeated amnioreduction, with transient postnatal electrolyte abnormalities and normal neurodevelopment at 3 and 4 years. One fetus with a frameshift variant died in utero at 26 + 1 weeks. A literature review of 53 cases revealed 38 distinct MAGED2 variants, predominantly null variants (65.8%). Polyhydramnios was the most consistent antenatal sign. No intellectual disability was reported in surviving individuals. Conclusions: These findings expand the MAGED2 mutational spectrum. Polyhydramnios and LGA represents the most frequent features in TABS. In fetuses presenting with early-onset severe polyhydramnios (around 19–20 weeks of gestation), particular attention should be paid to possible exon-level or partial deletions involving MAGED2 during genetic evaluation. Full article

Background: Postoperative complications following colorectal surgery remain a persistent clinical challenge. Traditional risk stratification has focused on patient characteristics, while conventional modeling approaches treat procedural factors such as operative duration and surgical approach as independent predictors, potentially obscuring interaction effects. Methods: This study developed a machine learning model stratifying 7908 colorectal surgery patients into four distinct procedural risk categories based on combined surgical approach and operative duration (laparoscopic-short, laparoscopic-long, open-short, open-long), rather than treating these factors as separate variables. A gradient boosting ensemble classifier with RUSBoost resampling was trained on predictor variables including patient demographics, comorbidities, and intraoperative factors. Results: Feature importance analysis revealed that the open-long category emerged as the single most important predictor, substantially exceeding all other variables. Weight loss, body mass index, patient age, and electrolyte abnormalities ranked as the next most important predictors. Stratified complication rates demonstrated a critical interaction: prolonged duration more than doubled complication risk in open procedures (short-duration: 9.99%, long-duration: 20.46%), whereas laparoscopic procedures showed only a modest increase from short-duration (10.45%) to long-duration (14.08%) cases. Logistic regression benchmark analysis confirmed the duration-approach interaction (OR = 1.53, 95% CI: 0.97–2.39), achieving comparable discrimination (c-statistic 0.678 vs. 0.665 for the ensemble model). Decision curve analysis demonstrated logistic regression provided superior clinical utility across most threshold probabilities. Conclusions: The dual analytical framework (i.e., statistical inference for quantifying associations and machine learning for predictive feature ranking) offers complementary insights for clinical application. These findings demonstrate that stratified feature engineering can elucidate complex risk phenotypes that may be obscured when procedural factors are analyzed independently. Full article

Background: Dialysis patients have a very high burden of cardiovascular mortality, yet the contribution of specific serum electrolytes to sudden cardiac death (SCD) and cardiovascular death across haemodialysis (HD) and peritoneal dialysis (PD) remains uncertain. Methods: We conducted a PROSPERO-registered systematic review and meta-analysis (2010–2025) of cohort studies reporting adjusted hazard ratios (HRs) for the association between baseline or time-averaged serum electrolytes and cardiovascular mortality or SCD in adult maintenance HD and/or PD. Random-effects models with modality-specific and pooled analyses were applied. Results: Thirty-five cohorts (over 200,000 patients) met inclusion criteria. Across modalities, categorical analyses showed that high phosphate and low magnesium were consistently associated with approximately 2-fold higher cardiovascular mortality, while extreme potassium categories conferred similar excess risk, driven largely by PD. In HD, hypomagnesaemia and hyperphosphataemia were each associated with around 2-fold higher risk, and lower continuous sodium levels were linearly related to higher cardiovascular mortality. In PD, severe potassium abnormalities, hypomagnesaemia and high phosphate categories were strongly associated with cardiovascular death, and a lower Na/Cl ratio identified patients at particularly high risk. Heterogeneity was generally modest for categorical magnesium and phosphate, but substantial for some potassium and continuous-exposure models. Sensitivity analyses confirmed the robustness of key findings. Conclusions: Across HD and PD, abnormalities in phosphate, magnesium, potassium and sodium are strong and largely consistent markers of cardiovascular mortality, and likely SCD, with important modality-specific patterns. These data support intensified, modality-tailored management of electrolyte profiles as a central component of cardiovascular and SCD risk reduction in dialysis. Full article

The high potential of saliva for use in the non-invasive diagnosis of a number of diseases raises a number of questions regarding the substantiation of normal and abnormal salivary composition criteria. Factors that must be considered when forming patient cohorts include age, hormonal status, and circadian variability. However, the influence of sex remains controversial. The aim of this study was to investigate the influence of sex on the biochemical composition of normal saliva, including amino acid and lipid profiles, cytokine levels, and electrolytes. The study involved 120 healthy volunteers (75 females and 45 males). The amounts of electrolytes (NH₄⁺, K⁺, Na⁺, Mg²⁺, Ca²⁺, Cl⁻, SO₄²⁻, NO₂⁻, NO₃⁻, F⁻, PO₄³⁻), amino acids (Arg, Lys, Tyr, Phe, His, Leu+Ile, Met, Val, Pro, Thr, Ser, Ala, Gly), cytokines (VEGF, MCP-1, TNF-α, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-18, INF-α, INF-γ), and biochemical parameters (protein, urea, total content of α-amino acids, imidazole compounds, lipid peroxides) were analyzed. Lipid content was determined based on the intensity of absorption bands at 1396, 1458, 2853, 2923, and 2957 cm⁻¹ in the IR spectra of salivary lipid extracts. A clear sex correlation was found for amino acid and lipid content in saliva. For electrolytes and biochemical parameters, median differences were demonstrated in some cases; however, the range of variation for all parameters overlapped. Although overall cytokine profiles did not show clear multivariate separation, significant differences between sexes were observed for individual cytokines (IL-1β and IL-10). A comprehensive assessment of all parameters (amino acids, lipids, cytokines, etc.) allows for the formation of a sex-associated metabolic profile of saliva. Therefore, it is recommended to avoid the use of mixed cohorts when analyzing the amino acid and lipid profiles of saliva. Full article

Cardiac disturbances are well-recognized in traumatic brain injury (TBI), but most involve supraventricular arrhythmias or repolarization abnormalities, while sinus arrest is rarely reported. We present a case of a 37-year-old man who developed recurrent, prolonged sinus arrest following severe TBI. He arrived intubated for airway protection after an assault, and imaging demonstrated an acute, depressed, comminuted right temporoparietal skull fracture scattered subarachnoid hemorrhage, and bilateral humeral head fractures with posterior shoulder subluxation. After craniotomy and placement of an external ventricular drain (EVD) for intracranial pressure (ICP) monitoring, the patient experienced multiple spontaneous sinus arrest episodes lasting up to 15 s despite normal metabolic, electrolyte, and toxicology evaluations. A transvenous pacemaker (TVP) was inserted to maintain adequate cardiac output and cerebral perfusion. As ICP improved, the sinus arrests resolved and the TVP was removed. This case highlights a rare neurocardiac manifestation of TBI, demonstrating that elevated ICP can precipitate profound conduction disturbances that may require temporary pacing to manage hemodynamics and prevent secondary brain injury. Full article

Background/Objectives: Refeeding syndrome (RFS) is challenging to prevent and manage in hospitalized patients receiving enteral nutrition (EN). Nebraska Medicine implemented an Electronic Medical Record (EMR) Refeeding Risk Order Set (RROS) to standardize prevention measures, including structured electrolyte monitoring, thiamine supplementation, and conservative EN initiation. This study evaluated whether RROS implementation reduced RFS occurrence or severity and assessed its operational impact. Methods: In this retrospective cohort study, adults receiving EN before and after RROS implementation were compared. Primary outcomes were RFS occurrence and severity; secondary outcomes included EN initiation and advancement rates, electrolyte trends, lab frequency, and electrolyte repletion. Results: RFS occurrence did not differ significantly between groups (92.3% vs. 91.3%, p = 0.694), nor did severity (p = 0.535). The post-RROS group received more electrolyte boluses on EN Day 0 (p = 0.027) and had a lower EN starting rate (15.7 vs. 18.3 mL/h, p = 0.045). Conclusions: Although the RROS did not reduce RFS occurrence or severity, integrating American Society for Parenteral and Enteral Nutrition (ASPEN)-based guidance into the EMR was highly feasible and adopted immediately. Automating electrolyte monitoring, micronutrient supplementation, and conservative feeding initiation reduces the risk of errors and promotes consistent care. These benefits improve workflow efficiency and support providers during high census periods, limited staffing, or when experience varies. Future research should explore combining EMR tools with predictive analytics to optimize early risk identification and individualized management. Full article

Abnormal electrolyte levels can lead to failures in lead-acid batteries. The capacitive method, as a non-invasive liquid level inspection technique, can be applied to the nondestructive detection of electrolyte level abnormalities in lead-acid batteries. However, due to the high viscosity of sulfuric acid in lead-acid batteries, residual liquid films are easily adhered to the tube walls during rapid liquid level drops, resulting in significant dynamic measurement errors in capacitive methods. To eliminate dynamic measurement errors caused by residual liquid film adhesion, this study proposes a hybrid deep learning model—Poly-LSTM. This model combines polynomial feature generation with a Long Short-Term Memory (LSTM) network. First, polynomial features are generated to explicitly capture the complex nonlinear and coupling effects in the sensor inputs. Subsequently, the LSTM network processes these features to model their temporal dependencies. Finally, the time information encoded by the LSTM is used to generate accurate liquid level predictions. Experimental results show that this method outperforms other comparative models in terms of liquid level estimation accuracy. At a rapid drop rate of 0.12 mm/s, the average absolute error (MAE) is 0.5319 mm, the root mean square error (RMSE) is 0.7180 mm, and the mean absolute percentage error (MAPE) is 0.1320%. Full article

Background and Clinical Significanc: Congenital duodenal diaphragm (CDD) is a rare congenital condition causing partial or complete obstruction of the duodenum, most frequently located in the second part of the duodenum. It is a rare but important cause of intestinal obstruction in infants and young children. Clinically, it often presents with persistent vomiting and failure to thrive. Diagnosis can be made through abdominal X-ray showing the characteristic “double bubble” sign, upper gastrointestinal (GI) series, or gastroscopy. Case Presentation: A 17-month-old female infant with known psychomotor retardation was admitted for evaluation of inadequate weight gain and intermittent postprandial vomiting, both present since birth. Laboratory investigations, including metabolic and electrolyte panels, were within normal limits. Given the persistent clinical symptoms, an upper gastrointestinal series was performed to assess for possible anatomical abnormalities. Imaging revealed a significant delay in the passage of contrast into the second portion of the duodenum, with marked prestenotic dilatation. Subsequent gastroscopy identified a duodenal diaphragm nearly occluding the duodenal lumen at the same site, impeding the passage of the endoscope. Associated findings included gastritis and the presence of food debris in the stomach and proximal duodenum, indicating impaired gastric emptying. The patient underwent successful surgical management via duodenotomy with resection of the septum. Postoperative recovery was uneventful. Conclusions: In infants or young children with persistent postprandial vomiting and inadequate weight gain, anatomical causes such as duodenal diaphragm/web should be considered in the differential diagnosis. Once identified, treatment should be initiated promptly, either endoscopically or surgically, depending on the severity and anatomical characteristics of the obstruction. Full article

Background/Objectives: The objective of this study was to analyze the clinical and laboratory features, management, outcomes, and complications of PRES in children with malignancies or following hematopoietic cell transplantation (HCT). Methods: This was a multicenter retrospective analysis of PRES episodes diagnosed between 2014 and 2022 in Polish pediatric hematology and oncology (PHO) centers and HCT units. The study included 438 patients treated for malignancy or post-HCT: 120 with PRES (study group) and 318 without PRES (control group). Results: PRES was diagnosed in children aged 1.7–16.5 years (median = 7.7 years). The most common underlying diagnosis was ALL (76.7%; n = 92). Symptoms of PRES included disturbances of consciousness (84.2%), seizures (80.0%), hypertension (74.2%), apathy (64.2%), abdominal pain (45.0%), visual disturbances (28.3%), and headaches (26.7%). Electrolyte abnormalities were observed in 75.0% of children, most commonly hyponatremia (49.2%) and hypokalemia (37.5%). Children with PRES were more likely to require admission to the intensive care unit (ICU) than controls (50.0% vs. 29.6%, p < 0.001). The most frequent long-term complications of PRES were hypertension (22.5%) and epilepsy (20.8%). Among PHO patients, those with PRES had significantly lower DFS (76.7% vs. 93.7%, p < 0.001) and OS (79.2% vs. 93.4%, p < 0.001). In the HCT group, PRES was also associated with lower DFS (40.0% vs. 83.3%, p = 0.012) and OS (40.0% vs. 77.8%, p = 0.047). Conclusions: PRES is a significant complication of oncological and transplant treatment in children. Its occurrence was associated with worse overall and disease-free survival. We proposed a predictive index for PRES, diagnostic criteria, and a revised name for this syndrome. Full article

Magnesium metal boasts a high theoretical volumetric specific capacity and abundant reserves. Magnesium batteries offer high safety and environmental friendliness. In recent years, magnesium-ion batteries (MIBs) with Mg or Mg alloys as anodes have garnered extensive interest and emerged as promising candidates for next-generation competitive energy storage technologies. However, MIBs are plagued by issues such as sluggish desolvation kinetics and slow migration kinetics, which lead to limitations including a limited electrochemical window and poor magnesium storage reversibility. Herein, the sodium vanadium phosphate @ carbon (Na₃V₂(PO₄)₃@C, hereafter abbreviated as NVP@C) cathode material was synthesized via a sol–gel method. The electrochemical performance and magnesium storage mechanism of NVP@C in a 0.5 M magnesium bis(trifluoromethanesulfonyl)imide/ethylene glycol dimethyl ether (Mg(TFSI)₂/DME) electrolyte were investigated. The as-prepared NVP@C features a pure-phase orthorhombic structure with a porous microspherical morphology. The discharge voltage of NVP@C is 0.75 V vs. activated carbon (AC), corresponding to 3.5 V vs. Mg/Mg²⁺. The magnesium storage process of NVP@C is tentatively proposed to follow a ‘sodium extraction → magnesium intercalation → magnesium deintercalation’ three-step intercalation–deintercalation mechanism, based on the characterization results of ICP-OES, ex situ XRD, and FTIR. No abnormal phases are generated throughout the process, and the lattice parameter variation is below 0.5%. Additionally, the vibration peaks of PO₄ tetrahedrons and VO₆ octahedrons shift reversibly, and the valence state transitions between V³⁺ and V⁴⁺/V⁵⁺ are reversible. These results confirm the excellent reversibility of the material’s structure and chemical environment. At a current density of 50 mA/g, NVP@C delivers a maximum discharge specific capacity of 62 mAh/g, with a capacity retention rate of 66% after 200 cycles. The observed performance degradation is attributed to the gradual densification of the CEI film during cycling, leading to increased Mg²⁺ diffusion resistance. This work offers valuable insights for the development of high-voltage MIB systems. Full article

Background: Partial nephrectomy (PN) and radical nephrectomy (RN) are surgical options for localized renal cell carcinoma; however, PN is p referred for preserving renal function in patients with chronic kidney disease (CKD). This study compares the risks of end-stage renal disease (ESRD), hemodialysis, and cardiovascular complications between PN and RN in patients with stable stage 4 CKD, with a further focus on postoperative electrolyte imbalances as outcome predictors. Methods: This retrospective cohort study used TriNetX data (between 2005 and 2023). Patients with stable stage 4 CKD undergoing nephron-sparing procedures or RN were included. Propensity-score matching ensured balanced baseline characteristics. The analyzed outcomes included renal function, hemodialysis, electrolyte imbalances, and cardiovascular events. Statistical analyses were hazard ratios (HRs) and risk ratios (RRs) with 95% confidence intervals (CIs). Results: The PN and RN groups showed no statistically significant differences in their progression to ESRD or need for long-term hemodialysis. Patients undergoing RN had a higher risk of pulmonary embolism (HR: 2.60; 95% CI: 1.12–6.02). Electrolyte imbalances, particularly abnormal calcium and phosphate levels, were more common in the RN cohort in the early postoperative period, but they stabilized over time. Notably, these electrolyte imbalances were associated with an increased risk of cardiovascular complications. The study limitations include the absence of tumor grade, tumor staging, and pathological information. Conclusions: Nephron-sparing PN did not reduce ESRD risk compared with RN, but provided a lower incidence of certain postoperative complications, such as pulmonary embolism and early electrolyte disturbances. Early postoperative electrolyte imbalances, especially abnormal calcium and phosphate levels, may predict adverse renal and cardiovascular outcomes. Full article

Objective: To identify distinct subtypes of ICU patients with Acute Kidney Injury (AKI) using serum electrolyte data and assess their associations with in-hospital mortality risk. Methods: This study used the eICU Collaborative Research Database (eICU-CRD) as its primary data source. AKI patients were identified according to the KDIGO clinical practice guidelines. Using K-Medoids clustering, we identified distinct AKI subtypes based on the first serum electrolyte measurements taken within 24 h of AKI diagnosis in the ICU. Logistic regression analysis was then employed to assess associations between these subtypes and in-hospital mortality risk. Within each subtype, we further examined the relationship between two AKI-related treatments, diuretics and renal replacement therapy (RRT), and mortality risk. Finally, to validate the identified subtypes, we replicated the entire analysis using a critical care dataset from a grade A tertiary hospital in Beijing, China. Results: We identified three distinct AKI subtypes from 15,838 eligible patients in the eICU-CRD. Subtype 1 (6364 patients, 40.2%) showed the lowest risk of in-hospital death and had all serum electrolyte levels within normal ranges. Subtype 2 (6624 patients, 41.8%) carried a moderate death risk and was characterized by abnormally high chloride levels. Subtype 3 (2850 patients, 18.0%) had the highest death risk, presenting with high serum phosphate and low bicarbonate levels. Importantly, the associations between treatments and mortality risk differed significantly by subtype. In the high-risk Subtype 3, both diuretics (OR = 0.71, p = 0.010) and RRT (OR = 0.78, p = 0.045) were associated with a lower risk of in-hospital death. However, in Subtype 2, both diuretics (OR = 1.30, p = 0.044) and RRT (OR = 1.56, p = 0.003) were associated with an increased risk. Neither treatment showed a significant association with death risk in Subtype 1. These findings were validated in the critical care database (431 AKI patients) from a Chinese local hospital, where the same three subtypes emerged with consistent electrolyte patterns, death risk profiles, and associations between treatments and mortality risks, validating the stability of the identified subtypes. Conclusions: Serum electrolyte data can help identify ICU AKI subtypes with different mortality risks. Additionally, associations between treatments (diuretics and RRT) and mortality risk vary significantly across these subtypes. These results generate the hypothesis that AKI subtyping could potentially inform personalized management strategies. Full article

Case Presentation: A 67-year-old man presented with transient loss of consciousness and dizziness after weeks of vomiting, weakness, and recurrent syncopal episodes. Initial laboratory findings showed hyponatremia (Na 125 mEq/L), severe hypokalemia (K 2.3 mEq/L), hypochloremia (Cl 77 mEq/L), metabolic alkalemia (pH 7.5; HCO₃⁻ 34 mEq/L), low serum osmolality (263 mOsm/L) with inappropriately concentrated urine (332 mOsm/kg), and prerenal azotemia (creatinine 3.4 mg/dL; eGFR 19 mL/min/1.73 m²; blood urea 209 mg/dL). Contrast-enhanced CT, along with colonoscopy, identified a large mucus-secreting villous adenoma in the upper rectum. After fluid and electrolyte replacement, the patient underwent surgical resection with complete remission of symptoms and correction of electrolyte abnormalities on follow-up. Conclusion: Rectal villous adenomas should be considered in older adults with unexplained hypovolemia, hypokalemic hyponatremia, and metabolic alkalemia. Early recognition and definitive resection are curative and prevent kidney injury. Full article

New-onset vertigo, dizziness and gait imbalance are amongst the most common symptoms presenting to the emergency department, accounting for 2.1–4.4% of all patients. The broad spectrum of underlying causes in these patients cuts across many specialties, which often results in diagnostic challenges. For patients meeting the diagnostic criteria for acute vestibular syndrome (AVS, i.e., presenting with acute-onset prolonged vertigo/dizziness with accompanying gait imbalance, motion intolerance, nausea/vomiting, with or without nystagmus), the typical differential diagnosis is vertebrobasilar stroke and acute unilateral vestibulopathy. However, other disorders may also present with AVS. These include non-neurological causes such as drug side-effects or intoxication, electrolyte disturbances, cardiac disease, severe anemia, carbon monoxide poisoning, endocrine disorders and others. Other non-stroke neurological disorders may also present with AVS or episodic vertigo/dizziness, including demyelinating CNS diseases, posterior fossa mass lesions, acute thiamine deficiency and vestibular migraine. Furthermore, acute physiological abnormalities (e.g., hypotension, fever, severe anemia) may unmask previous vestibular impairments that had been well-compensated. Here, we review the diagnostic approach to patients with acute-onset dizziness in the emergency room and discuss the most important differential diagnoses beyond stroke and acute unilateral vestibulopathy. Full article

Introduction: Hyponatremia is a common finding in hospitalized patients, especially the elderly. Symptoms of hyponatremia can vary depending on the concentration of sodium in serum as well as the dynamics of its escalation. Hyponatremia can have many etiologies, including medication, vomiting, or diarrhea, and central nervous system disorders, including tumors, trauma, and infections. Case report: In this case, we present a 74-year-old patient who was admitted to the Department of Internal Medicine with symptomatic, acute, and severe hyponatremia in the course of the syndrome of inappropriate antidiuretic hormone secretion due to varicella zoster virus meningoencephalitis. Clinical improvement and normalization of natremia occurred after the initiation of causal treatment. Conclusion: Given the complexity of the potential causes of hyponatremia and the variety of treatments available, it is essential to thoroughly consider the possible reasons for electrolyte abnormalities, including uncommon ones such as central nervous system infections. Full article