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Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized in patients with inflammatory bowel disease (IBD), but accurate, disease-specific predictive tools are lacking. This study aimed to identify key risk factors and develop tailored prediction models for MASLD in IBD patients. Material and methods: In a retrospective-prospective cohort of 157 IBD patients (Ulcerative colitis: 51.6%; Crohn's disease: 48.4%), we performed serial clinical, laboratory, and imaging evaluations across four clinical visits. Hepatic steatosis was assessed using transient elastography with controlled attenuation parameter (CAP >273 dB/m). Logistic regression identified independent risk factors for MASLD, leading to the development of an additive clinical score and a logistic regression-based score. Their diagnostic performances were compared with established indices (Hepatic steatosis index (HSI), Fatty liver index (FLI)). Results: MASLD was diagnosed in 37 patients (23.5%). Independent predictors included smoking (OR 3.55), dyslipidemia (OR 2.82), hypertension (OR 2.77), prolonged IBD duration, higher BMI, male sex, frequent disease flares, and corticosteroid exposure. The additive score (cut-off ≥3) showed good sensitivity (36.1%) but high specificity (94%). The logistic score (cut-off ≥3.5) achieved moderate specificity (45.3%) with excellent sensitivity (86.1%). Both models outperformed HSI (AUC 0.671) and FLI (AUC 0.701). CAP remained the most accurate tool (AUC 0.957). Conclusion: MASLD is highly prevalent in IBD patients, driven by both metabolic and disease-specific factors. The proposed clinical scores provide simple, accessible tools for early risk stratification, potentially guiding personalized surveillance in settings lacking advanced imaging technologies.

Childhood obesity has been increasingly recognized as a risk factor for acute pancreatitis (AP). This study investigates the impact of obesity and a novel composite metabolic risk variable (MAC - Metabolic at Risk in Context) on the biochemical, inflammatory, and clinical profiles of Romanian children with AP.

Material and methods: A retrospective cohort study included 90 pediatric patients hospitalized for a first episode of AP at Grigore Alexandrescu Children's Emergency Clinical Hospital in Bucharest over a three-year period. Patients were classified as obese or non-obese based on BMI percentiles. The MAC variable was defined as positive if the patient had at least one of the following: total cholesterol >170 mg/dL, GGT >40 U/L, or total lipids >500 mg/dL. Associations between obesity, MAC, inflammatory markers, disease severity, and recurrence were analyzed using regression models.

Results: Nineteen patients (21.1%) were obese, and 35 (38.9%) were MAC-positive. Obese patients were older (median age 15 vs. 9.5 years) and had significantly higher total cholesterol, GGT, and total lipid levels. MAC positivity was more frequent in obese patients (68.4% vs. 26.8%, p < 0.001). Biliary pancreatitis was significantly more common among obese patients (p = 0.0043), while no association was found between MAC and biliary etiology. Neither obesity nor MAC predicted severity or recurrence. In contrast, lower lymphocyte counts were inversely associated with severity (p<0.01), suggesting that lymphopenia may serve as a biomarker of severe disease.

Conclusions: Obesity and metabolic abnormalities are frequent in pediatric AP and are associated with biliary etiology, but not with increased severity or recurrence. The use of the MAC variable provides a novel approach to identify children at metabolic risk beyond BMI status. Additionally, lymphocyte counts may serve as a practical biomarker for identifying children at risk for severe AP. These findings highlight the need for integrated metabolic and immune assessments in pediatric AP management.

Prenatal genetic diagnostics have undergone a remarkable transformation, progressing from early cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) to chromosomal microarray analysis (CMA) and, most recently, whole exome sequencing (WES). WES has emerged as a groundbreaking tool, allowing for identifying single-gene mutations, small insertions and deletions, and other pathogenic variants responsible for rare and complex diseases. Unlike conventional approaches, which primarily detect large chromosomal abnormalities, WES provides a high-resolution analysis of the fetal genome, significantly improving diagnostic accuracy and enabling early intervention. This review explores the historical evolution of prenatal genetic testing, highlighting key milestones from the introduction of cytogenetics in the 1960s to the integration of WES in clinical practice over the last decade. WES has proven instrumental in diagnosing monogenic disorders, uncovering the genetic basis of fetal anomalies, and investigating cases of stillbirth and recurrent pregnancy loss (RPL). However, despite its immense clinical utility, challenges such as the interpretation of variants of uncertain significance (VUS), ethical concerns surrounding incidental findings, and the financial burden associated with sequencing continue to impact its widespread adoption. Future directions in WES include its potential integration with non-invasive prenatal testing (NIPT), advancements in artificial intelligence (AI)-driven bioinformatics, and its role in precision medicine, offering more personalized and data-driven approaches to prenatal care. As technological innovations continue to enhance the speed, accuracy, and affordability of WES, its role as a cornerstone of modern prenatal diagnostics is expected to expand, shaping the future of fetal genetic screening and clinical decision-making.

Cytokine release syndrome (CRS) is a potentially life-threatening inflammatory condition that can occur after immune-based therapies, such as bispecific antibodies. We present the case of a 66-year-old woman with relapsed/refractory multiple myeloma who developed fatal CRS following treatment with Teclistamab, a bispecific antibody that targets CD3 on T cells and B-cell maturation antigen on myeloma cells. The patient had previously achieved remission with rituximab, bortezomib, and autologous stem cell transplantation but experienced a relapse after eight years. Teclistamab was initiated with a step-up dosing regimen. Before treatment, she received premedication with intravenous fluids, steroids, and tocilizumab. Despite this premedication, the patient was readmitted with fever, chills, and shortness of breath, leukopenia, and hypoxia. Imaging studies indicated pneumonia. During her hospitalization, her condition deteriorated rapidly, resulting in respiratory failure and refractory shock. She was transferred to the intensive care unit (ICU), where she required mechanical ventilation and multiple pressor support. Despite aggressive resuscitation efforts, she progressed to multi-organ failure, and the family ultimately chose to withdraw care. CRS is characterized by a systemic inflammatory response with rapid and excessive release of cytokines, particularly IL-6, IL-2, IL-10, IFN-γ, and GM-CSF. Severe CRS can clinically resemble sepsis. Management strategies include early recognition, supportive care, and immunomodulatory therapy, particularly with tocilizumab and corticosteroids. This case underscores the diagnostic and therapeutic challenges of differentiating severe CRS from infection. This case uniquely contributes to current understanding by highlighting the limitations of current premedication protocols and emphasizing the critical need for enhanced monitoring and rapid intervention protocols in managing Teclistamab-induced CRS. It highlights the critical need for prompt, targeted intervention to prevent fatal outcomes in patients receiving novel immunotherapies.

A 36-year-old woman with surgically repaired transposition of the great vessels was admitted with psychiatric symptoms. The 12-lead ECG showed ST-segment elevation in the inferior leads, a positive P wave in aVR, and an absent R wave progression in the precordial leads. The findings were attributed to atrial repolarization (Ta) waves in the setting of dextrocardia and low atrial rhythm, causing ST-segment elevation in the inferior leads. No cardiac symptoms were present, and additional tests ruled out ischemia. Atrial repolarization waves are typically imperceptible on ECG but can become evident in certain conditions, such as low atrial rhythm. This case represents a rare coexistence of dextrocardia and ST-segment elevation due to an inverted atrial repolarization wavefront in the setting of low atrial rhythm. Recognizing this pattern is essential to prevent misdiagnosis and avoid unnecessary procedures.

Carbamazepine (CBZ) toxicity is a medical emergency due to severe neurological and cardiovascular risks. Management is challenging due to CBZ's prolonged elimination, enterohepatic recirculation, and active metabolites. We report a severe CBZ intoxication in a 23-year-old male who ingested 24 g in a suicide attempt. He presented in profound coma (Glasgow Coma Scale 3) with respiratory failure, requiring orotracheal intubation and mechanical ventilation. ECG showed sinus tachycardia and slightly widened QRS complexes. Echocardiography revealed myocardial depression with a left ventricular ejection fraction of 40%. His CBZ plasma level was critically high (44 mcg/mL). Treatment included multiple-dose activated charcoal, intravenous lipid emulsion, and continuous venovenous hemodiafiltration, leading to rapid CBZ clearance, cardiotoxicity reversal, and neurological recovery. He was extubated on day three and discharged in stable condition. This case highlights severe CBZ-induced cardiotoxicity and emphasizes early recognition and advanced therapies for improved outcomes.

Guillain-Barré syndrome (GBS) is a rare but serious neuropathy in hematopoietic stem cell transplant recipients. Immunosuppressants, particularly tacrolimus, have been implicated as potential triggers. We present a 27-year-old man with BCR-ABL-positive acute myeloid leukemia who developed an acute demyelinating polyneuropathy possibly related to tacrolimus therapy post-transplantation, highlighting diagnostic challenges and management considerations. The patient developed progressive ascending weakness, areflexia, sensory loss, and bulbar symptoms 58 days after an allogeneic stem cell transplant from an HLA-matched sibling donor. Cerebrospinal fluid (CSF) analysis showed elevated protein (1,900 mg/L) with lymphocytic pleocytosis (51 cells/μL), an atypical finding for GBS. Magnetic resonance imaging revealed subtle nerve root enhancement, and nerve conduction studies demonstrated markedly slowed conduction velocities and prolonged distal latencies consistent with an acute inflammatory demyelinating polyneuropathy. Extensive infectious work-up (including viral PCR panels and cultures) was negative, and no leukemic cells were seen in CSF. Tacrolimus was discontinued (trough level 3.1 ng/mL, below therapeutic range) and intravenous immunoglobulin (2 g/kg total over five days) initiated. The patient's neurological deficits improved rapidly, with near-complete recovery within four weeks. Notably, withdrawal of tacrolimus immunosuppression did not precipitate graft-versus-host disease, and the patient's acute leukemia remained in remission on ponatinib monotherapy. This case illustrates an acute demyelinating polyneuropathy in a post-transplant patient, associated with tacrolimus. It underscores the importance of careful diagnostic assessment of GBS in transplant recipients, including consideration of atypical CSF findings and alternative diagnoses. Prompt recognition and management - including immunosuppressant adjustment and immunotherapy - can achieve full neurological recovery without compromising transplant outcomes.

Malignant gastrointestinal neuroectodermal tumor (GNET) is a distinctive and relatively newly described neoplasm that is seldom encountered in routine clinical practice. It is characterized by a predominantly monomorphic population of polyhedral to epithelioid cells, exhibiting pale eosinophilic or clear cytoplasm, rounded nuclei with vesicular chromatin, and occasionally prominent eosinophilic nucleoli. These cells are arranged in a heterogeneous pattern, forming small nests, compact solid areas, and pseudo-papillary or pseudo-microcystic structures. Within the tumor, osteoclast-like giant cells may be a notable feature, although their presence is variable. This tumor consistently demonstrates positivity for S100, SOX10, and vimentin, while it is invariably negative for Melan-A, HMB45, desmin, CD117, and pan-cytokeratin. Additionally, it exhibits variable expression of the following immunohistochemical markers: synaptophysin, chromogranin, CD56, neuron-specific enolase (NSE), and neurofilament protein (NFP). A specific mutation in the Ewing's sarcoma breakpoint region 1 (EWSR1) gene has been described for GNET, characterized by EWSR1-CREB1 and EWSR1-ATF1 fusions. This article discusses the clinical, pathological, immunophenotypic, and genetic features of one clinical case of GNET, followed by a literature review of 127 cases published in the PubMed database, for which full-length articles were accessible. According to this review, approximately 10% of GNETs have been initially misdiagnosed, with about 6% being misclassified as neuroendocrine tumors or neuroendocrine carcinomas.

The nephrotic syndrome (NS) is caused by increased glomerular permeability. We report a case of NS in a 3-year-old girl, complicated with central nervous system venous thrombosis. Physical examination revealed anasarca (edema, pleurisy, and ascites), intensely foaming urine. The lab tests showed severe, non-selective proteinuria, marked hypoproteinemia, dyslipidemia; also associated with abnormal thyroid panel due to urinary binding protein loss. Once the diagnosis was established and pathogen-specific treatment was started, the clinical and paraclinical evolution were favorable. A prolonged right body seizure was the onset symptom of cerebral venous infarction due to sagittal sinus thrombosis. Short- and long-term outcomes of the thrombosis can be severe, so anticoagulant therapy was promptly initiated.

Background: Sessile serrated lesions (SSLs) are recognized as precursor lesions in the pathogenesis of colorectal cancer, particularly in the context of microsatellite instability (MSI). This study evaluates the role of immunohistochemical (IHC) markers in understanding the molecular and immunologic characteristics of SSLs.

Materials and methods: A retrospective analysis was performed on 45 colonic neoplastic lesions diagnosed as SSLs. An IHC staining panel was conducted, including MLH1, p53, CD44, CD3, CD8, MUC2, MUC5AC, MUC6, chromogranin and Ki67 antibodies.

Results: MLH1 and p53 expressions showed correlations with dysplastic changes. Immunological markers CD3 and CD8 indicated a variable immune response, potentially reflecting the tumor's ability to evade immune surveillance in certain situations. CD44 was overexpressed in all SSLs. The number of neuroendocrine cells was overall reduced.

Conclusions: SSLs are heterogeneous lesions, exhibiting a wide range of histological and molecular features. Using IHC might enhance diagnostic accuracy, particularly in lesions with ambiguous histological features, when dysplasia develops. Accurate identification of SSLs and understanding their molecular characteristics are crucial for assessing their malignant potential.