Journal of European Internal Medicine Professionals

Dandy Walker Malformation in a Patient Presenting with Hyponatremia

Can Hüzmeli — Mon, 27 Oct 2025 00:00:00 +0300

Hyponatremia is defined as a serum sodium concentration of less than 135 mmol/L and is a common electrolyte abnormality. The most common causes of hyponatremia following central nervous system disorders are syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral salt wasting (CSW). In this case report, we discuss the diagnosis and treatment of CSW in a 30-year-old male patient with recurrent episodes of hyponatremia, in the context of the literature. CSW develops after central nervous system disorders and is characterized by hypovolemia, low serum osmolality, high urine osmolality, and high urine sodium levels.

Euglycemic Ketoacidosis in a Patient with Prolonged Malnutrition Syndrome

Luís Veiga, Anita Campos, Maria Eduarda Martins, Inês Burmester — Mon, 27 Oct 2025 00:00:00 +0300

We present the case of a 53-year-old woman admitted to the emergency department for vomiting and abdominal pain, ultimately diagnosed with euglycemic ketoacidosis. The patient had a history of severe malnutrition associated with depressive disorder, with almost exclusive fruit intake for at least 2 months. Evaluation revealed high anion gap metabolic acidosis, significant ketonemia, but normal blood glucose levels. Exogenous intoxication and diabetes mellitus were excluded. Fluid resuscitation and bicarbonate led to clinical and laboratory improvement. This case highlights the importance of considering malnutrition as a cause of ketosis and metabolic acidosis.

Comment on “What’s Missing in Diabetes Treatment? A Novel Agent, Finerenone?”

Arzu Akgül, Berrak Itır Aylı — Mon, 27 Oct 2025 00:00:00 +0300

Letter to Editor - No Abstract

Novel Pharmacological Approaches to Neurological Diseases: A Review of Recent Clinical Breakthroughs

Songül Turğut; İskender Samet Dalbatan — Mon, 27 Oct 2025 00:00:00 +0300

Neurological diseases present significant global health challenges due to their high prevalence, substantial disability burden, and previously limited therapeutic options. Recent breakthroughs in neuropharmacology and precision medicine have dramatically advanced treatment paradigms, ushering in targeted medications that alter disease progression, alleviate symptoms, and improve patient quality of life. This review systematically examines recent pharmacological innovations across Alzheimer's disease, Parkinson's disease (PD), and multiple sclerosis (MS). For AD, landmark disease-modifying therapies such as aducanumab and lecanemab targeting amyloid pathology, and the introduction of transdermal donepezil, have expanded therapeutic possibilities. In PD, novel formulations like opicapone and sublingual apomorphine provide enhanced control of motor fluctuations. For MS, oral sphingosine-1-phosphate receptor modulators (ozanimod, ponesimod), home-administered B-cell therapies (ofatumumab), novel fumarate formulations (monomethyl fumarate), and optimized monoclonal antibodies (ublituximab) represent significant therapeutic advancements. This review provides clinicians and researchers comprehensive, structured insights into these novel pharmacotherapies, highlighting their clinical efficacy, dosing considerations, and safety profiles, thereby facilitating informed clinical decision-making and promoting precision medicine in neurology.

NT-proBNP as a Predictor of Chronic Kidney Disease Progression

Sema Seçilmiş, Murat Duranay — Mon, 27 Oct 2025 00:00:00 +0300

Background: N-terminal pro–B-type natriuretic peptide (NT-proBNP) is a cardiac biomarker with emerging relevance in chronic kidney disease (CKD). While elevated NT-proBNP levels are commonly attributed to cardiac dysfunction, recent evidence suggests they may also reflect renal pathology and predict CKD progression. This single-center study aimed to evaluate the predictive role of NT-proBNP in CKD progression independent of structural heart disease.

Methods: We enrolled 24 patients with stage 3–5 CKD, all with normal cardiac function confirmed by echocardiography (normal ejection fraction and left ventricular indices). Baseline NT-proBNP and comprehensive metabolic parameters (renal function, lipids, glycemic markers, inflammatory markers, nutritional indicators) were measured and repeated at 24 weeks. Changes in NT-proBNP were correlated with changes in renal function (creatinine clearance) and other variables. Statistical significance was set at p<0.05. We also considered advanced analyses (ROC curve and multivariate regression) to further assess NT-proBNP’s prognostic performance.

Results: NT-proBNP levels rose significantly over 24 weeks (p<0.001) as renal function declined (creatinine clearance decreased, p<0.001). There was an inverse correlation between the change in NT-proBNP and the change in creatinine clearance (r = –0.437, p<0.05), even after excluding patients with heart failure or other cardiac abnormalities. Baseline NT-proBNP correlated negatively with serum albumin and total protein (r = –0.525 and –0.414, respectively), and these correlations persisted at follow-up (r = –0.577 and –0.483; p<0.01). Subgroup analysis showed the NT-proBNP–renal function relationship was more pronounced in diabetic CKD patients (r = –0.638, p<0.05) than in non-diabetics. NT-proBNP changes were not significantly associated with body mass index, blood pressure, lipid profile, or HbA1c. High-sensitivity C-reactive protein (hs-CRP) levels increased during follow-up; however, the change in hs-CRP did not correlate with the change in NT-proBNP.

Conclusion: NT-proBNP levels increased in tandem with CKD progression, suggesting NT-proBNP is a promising marker for monitoring renal deterioration independent of heart function. Its strong association with nutritional status (albumin/protein levels) implies a multifactorial biomarker role. Larger prospective studies and advanced statistical analyses (e.g., threshold determination via ROC, multivariate models) are warranted to validate NT-proBNP’s prognostic value and to integrate it into clinical decision-making for CKD.

Association Between Peritoneal Transport Changes and Arterial Stiffness Parameters in Peritoneal Dialysis Patients

Mon, 27 Oct 2025 00:00:00 +0300

Background: Alterations in peritoneal membrane transport characteristics are common in long-term peritoneal dialysis (PD) patients and may reflect underlying microvascular dysfunction. Such changes are commonly associated with peritonitis episodes, prolonged use of glucose-based dialysate, and microvascular injury to the peritoneal membrane, reflecting structural and functional deterioration of the peritoneum. Arterial stiffness, particularly measured via augmentation index (AIx) and pulse wave velocity (PWV), is a known morbidity and closely related with macro and microvascular disease in this population. However, the relationship between longitudinal changes in peritoneal transport and arterial stiffness remains unclear.

Methods: This retrospective observational cohort study included all adult patients who had initiated PD and underwent a baseline peritoneal equilibration test (PET), with a follow-up duration of at least two years. AIx and PWV were measured in all participants using a non-invasive method. Patients were categorized into two groups based on the stability of their PET classification: stable PET vs. changed PET. Demographic, clinical, laboratory, and arterial stiffness parameters (PWV and AIx) were compared between groups.

Results: There were no significant differences in age, sex, comorbidities, laboratory values, or dialysis and adequacy measures between the two groups. PWV values were comparable (9.3 ± 2.1 m/s vs. 9.3 ± 1.9 m/s; p = 0.90). However, the AIx was significantly higher in the changed PET group compared to the stable group (30.6 ± 10.2 vs. 23.0 ± 10.6; p = 0.02).

Conclusion: The findings indicate an associative relationship between peritoneal transport changes and increased small artery stiffness. AIx may serve as a sensitive, non-invasive indicator of microvascular alterations in PD patients. These associations should be interpreted cautiously, and prospective studies are warranted to confirm the temporal and mechanistic links.

The Retrospective Analysis of Clopidogrel Resistance Tests

Gamze Gök, Turan Turhan — Mon, 27 Oct 2025 00:00:00 +0300

Background: Clopidogrel binds to P2Y₁₂ and inhibits platelet aggregation. Clopidogrel resistance can be categorized into two main categories: laboratory clopidogrel resistance and clinical clopidogrel resistance. Laboratory clopidogrel resistance refers to the inadequate in vitro antiplatelet effects of clopidogrel. In the present study, we aimed to evaluate the clopidogrel resistance test results from the perspective of laboratory specialists.

Methods: All clopidogrel resistance test results from the Bilkent City Hospital laboratory information system, between February 1, 2019, and May 31, 2025, were collected. Clopidogrel resistance tests were performed using the adenosine diphosphate-induced platelet aggregation method using an aggreometer device (Stago Chrono-Log Model 700). Data were expressed as mean, minimum, and maximum levels, numerically and as percentages. The Chi-square test was performed a categorical data comparison between the created groups. IBM SPSS Statistics performed statistical analyses for Windows, Version 27.0 (IBM Corp., Armonk, NY, USA).

Results: A total of 285 clopidogrel resistance test results were included. Negative and positive clopidogrel test results were as follows: 95 (33.3 %) and 190 (66.7 %). The present study consisted of 98 (34.4 %) females, 187 (65.6 %) males’ clopidogrel resistance tests. There were 107 (37.5%) clopidogrel resistance test results in the under 65 years old group, while there were 178 (62.5%) in the 65 and older years group. The neurology clinic requested clopidogrel resistance tests mostly (N:72, 62.5 %). No statistical differences were found in gender among age intervals (p>0.05), in clopidogrel resistance tests among gender (p>0.05), and in clopidogrel resistance tests among age intervals (p>0.05).

Conclusion: The most appropriate laboratory test to assess clopidogrel resistance has not yet been determined. The present study, evaluated from a laboratory perspective, may be useful for future research; however, prospective studies combining laboratory and clinical findings may be more effective.

Clinical Outcomes and Counseling Impact of Exome Sequencing in a Low-Risk Prenatal Cohort

Umut Altunoğlu, Ebru Çelik, Tuğba Saraç Sivrikoz, Atıl Yüksel, Hülya Kayserili — Mon, 27 Oct 2025 00:00:00 +0300

Background: Prenatal exome sequencing (pES) is recommended mainly for fetuses with major or multiple structural anomalies when conventional karyotyping and chromosomal microarray are non-diagnostic. Outside these indications, its clinical value is uncertain.

Methods: We retrospectively reviewed 10 fetuses tested with pES at our center (2016–2025) despite lacking guideline-based indications. Indications included advanced maternal age (n=1), sex-chromosome anomalies (n=5), parental gonadal mosaicism risk (n=2), and isolated soft ultrasonographic marker (n=2). All cases had karyotype and/or chromosomal microarray (CMA) before pES.

Results: One fetus carried a pathogenic SETD5 (NM_001080517.3) c.1541del, p.(Lys514Argfs*2) variant, along with 45,X/46,XY mosaicism and transient ascites/pleural effusion. The SETD5 variant was considered incidental in the prenatal context, though it influenced management and led to medical termination. A second fetus had a maternally inherited heterozygous NSD1 (NM_022455.4) c.2410C>T, p.(Pro804Ser) variant of uncertain significance supporting pregnancy continuation, but the pregnancy was terminated in an external center. One other fetus was lost to follow-up; all other live-born infants appeared normal on postnatal examination.

Conclusion: In this small “out-of-indication” series, pES was management-changing in one pregnancy and created uncertainty in another, which complicated the family’s decision-making process. The latter finding aligns with current recommendations discouraging pES in low-risk antenatal settings due to its limited yield. Nonetheless, in select situations involving unresolved diagnostic ambiguity, pES may still uncover variants with potential relevance to counseling and management.