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CEN Case Reports Jun 2024MYH9-related disorders are a group of autosomal dominant disorders caused by mutations in MYH9, and are characterized by thrombocytopenia, sensorineural hearing loss,...
MYH9-related disorders are a group of autosomal dominant disorders caused by mutations in MYH9, and are characterized by thrombocytopenia, sensorineural hearing loss, cataracts, and renal failure. Here, we report a case of chronic renal failure due to MYH9-related disorder with renal symptoms in a patient who underwent living-donor renal transplantation. The patient was diagnosed with proteinuria during a health checkup at the age of 12 years. Her renal function gradually deteriorated, and hemodialysis was initiated at 34 years of age. No definitive diagnosis of renal disease was made through renal biopsy. At the age of 35, she underwent living-donor renal transplantation from her mother as the donor. Six years after transplantation, her renal function remained stable, and no evidence of recurrent nephritis was found during renal biopsies. The family history revealed that her father, uncle, and younger brother had end-stage kidney disease. Genetic testing revealed a mutation (p.E1653D) related to the MYH9 gene. As her father had a history of renal biopsy and was diagnosed with focal segmental glomerulosclerosis (FSGS), we diagnosed chronic renal failure due to FSGS associated with MYH9 disorder. There were no findings suggestive of hearing loss, cataracts, or thrombocytopenia in the recipient or their family members with renal failure, and no symptoms other than renal failure were noted.
PubMed: 38831180
DOI: 10.1007/s13730-024-00892-0 -
Scientific Reports Jun 2024Pre-eclampsia (PE) is a hypertensive disorder characterised by systemic vascular resistance and endothelial dysfunction. It is known to influence choroidal thickness...
Pre-eclampsia (PE) is a hypertensive disorder characterised by systemic vascular resistance and endothelial dysfunction. It is known to influence choroidal thickness (CT). No previous studies have explored the antepartum and postpartum changes in CT with respect to the protein-creatinine ratio (PCR), a measure of proteinuria that is a clinical hallmark of PE. This study evaluated the correlations between antepartum and postpartum CT and the PCR in patients with PE. In this retrospective study, sixty-six eyes (66 patients) were analysed. The patients were divided into two groups according to the median PCR value (2.36 mg/mg): low PCR group (< 2.36 mg/mg) and high PCR group (≥ 2.36 mg/mg). Ophthalmologic clinical data were collected and assessed. We observed higher antepartum CT and higher mean arterial pressure in high PCR group than in low PCR group. Moreover, postpartum CT decreased significantly in high PCR group. In the multivariate analysis, CT changes were correlated with antepartum CT and antepartum PCR after logarithm transformation. In conclusion, a greater decrease in CT was observed in high PCR group than in low PCR group. Further, the antepartum PCR showed a correlation with the extent of CT reduction.
Topics: Humans; Female; Pre-Eclampsia; Pregnancy; Proteinuria; Adult; Choroid; Postpartum Period; Retrospective Studies; Creatinine
PubMed: 38830948
DOI: 10.1038/s41598-024-63359-3 -
Medical Principles and Practice :... Jun 2024This study aimed to assess the predictive value of macrophage colony stimulating factor (M-CSF) in the first trimester for hypertensive disorders complicating pregnancy...
PURPOSE
This study aimed to assess the predictive value of macrophage colony stimulating factor (M-CSF) in the first trimester for hypertensive disorders complicating pregnancy (HDCP) and its association with disease severity and adverse pregnancy outcomes. HDCP pose significant risks to both maternal and fetal health. M-CSF is implicated in the pathogenesis of HDCP by promoting inflammation and endothelial damage.
METHODS
Serum levels of M-CSF were measured using enzyme-linked immunosorbent assay, and clinical characteristics and pregnancy outcomes were compared between groups.
RESULTS
Pregnant women with HDCP had significantly higher levels of proteinuria, systolic blood pressure, and diastolic blood pressure compared to those with normal pregnancy. Among patients with HDCP, the severity of disease correlated positively with serum levels of M-CSF. Furthermore, M-CSF levels in the first trimester were significantly associated with adverse pregnancy outcomes. The findings suggest that M-CSF may serve as a potential biomarker for predicting HDCP and its severity, as well as adverse pregnancy outcomes.
CONCLUSIONS
Early detection and monitoring of M-CSF levels could aid in identifying high-risk pregnancies and implementing appropriate interventions to improve maternal and fetal outcomes.
PubMed: 38830347
DOI: 10.1159/000539619 -
The Kaohsiung Journal of Medical... Jul 2024Palpable purpura, gastrointestinal symptoms, joint involvement, and renal disease characterize immunoglobulin A vasculitis (IgAV). Renal involvement ranging from mild... (Review)
Review
Palpable purpura, gastrointestinal symptoms, joint involvement, and renal disease characterize immunoglobulin A vasculitis (IgAV). Renal involvement ranging from mild proteinuria to severe nephritic or nephrotic syndrome highlights the importance of monitoring kidney function in patients with IgAV. Recognizing these key features is crucial for early diagnosis and appropriate management to prevent long-term complications related to kidney disease. However, the pathogenesis of IgAV remains unclear. Disease mechanisms involve various factors, including the interplay of aberrantly glycosylated IgA, anti-endothelial cell antibodies, and neutrophils following infection triggers, which are the main pathogenic mechanisms of IgAV. Insights from cases of IgAV related to Coronavirus disease 2019 have offered additional understanding of the connection between infection and IgAV pathogenesis. This review provides a valuable resource for healthcare professionals and rheumatology researchers seeking a better understanding of the clinical features and pathophysiology of IgAV.
Topics: Humans; Immunoglobulin A; COVID-19; Vasculitis; SARS-CoV-2; IgA Vasculitis; Autoantibodies; Neutrophils
PubMed: 38828518
DOI: 10.1002/kjm2.12852 -
Cureus May 2024In this case report, we present the development of catastrophic antiphospholipid syndrome (CAPS), a rare and potentially fatal consequence of systemic lupus...
In this case report, we present the development of catastrophic antiphospholipid syndrome (CAPS), a rare and potentially fatal consequence of systemic lupus erythematosus (SLE), in a 33-year-old Micronesian woman. CAPS is characterized by extensive arterial thrombosis and multiorgan failure. The patient first showed signs of neuropsychiatric symptoms, brain infarctions on imaging, and severe hypoxic respiratory failure brought into the hospital by diffuse alveolar hemorrhage (DAH) along with lupus nephritis (LN). Blood urea nitrogen (BUN) and creatinine (Cr) were progressively elevated to 102/4.1 mg/dL, respectively. A urinalysis revealed microscopic hematuria and proteinuria with a urine protein/creatinine ratio of 6052 mg/g. She was also found to have had microangiopathic hemolytic anemia (MAHA) and severe venous thrombosis, both of which were indicative of CAPS. An aggressive approach, including immunosuppressive medication, therapeutic plasma exchange, and anticoagulation, had positive results, including renal recovery and the cessation of thrombotic episodes. This instance highlights how crucial it is to identify CAPS patients early and take appropriate action to improve patient outcomes for this difficult and sometimes deadly disorder.
PubMed: 38826875
DOI: 10.7759/cureus.59542 -
Cureus Apr 2024The traditional criteria for diagnosing preeclampsia include a new onset of hypertension and new-onset proteinuria at 20 weeks gestation. However recent studies...
The traditional criteria for diagnosing preeclampsia include a new onset of hypertension and new-onset proteinuria at 20 weeks gestation. However recent studies suggest preeclampsia and even eclampsia may develop in the absence of either proteinuria or hypertension. This paper reports a dual tragedy of maternal and fetal loss after 36 weeks in the third trimester. Autopsy findings revealed an enlarged liver with multiple patchy hemorrhages, and histopathology confirmed submassive hepatic necrosis. Early diagnosis with timely referrals to higher centers is always helpful for the patients in such cases.
PubMed: 38826597
DOI: 10.7759/cureus.59421 -
Experimental & Molecular Medicine May 2024Preeclampsia is caused by placental hypoxia and systemic inflammation and is associated with reduced placental growth factor (PlGF) and endothelial nitric oxide synthase...
Preeclampsia is caused by placental hypoxia and systemic inflammation and is associated with reduced placental growth factor (PlGF) and endothelial nitric oxide synthase (eNOS) levels. The molecular signaling axes involved in this process may play a role in the pathogenesis of preeclampsia. Here, we found that hypoxic exposure increased hypoxia-inducible factor-1α (HIF-1α)/Twist1-mediated miR-214-3p biogenesis in trophoblasts, suppressing PlGF production and trophoblast invasion. TNF-α stimulation increased NF-κB-dependent miR-214-3p expression in endothelial cells, impairing eNOS expression and causing endothelial dysfunction. Synthetic miR-214-3p administration to pregnant mice decreased PlGF and eNOS expression, resulting in preeclampsia-like symptoms, including hypertension, proteinuria, and fetal growth restriction. Conversely, miR-214-3p deletion maintained the PlGF and eNOS levels in hypoxic pregnant mice, alleviating preeclampsia-like symptoms and signs. These findings provide new insights into the role of HIF-1/Twist1- and NF-κB-responsive miR-214-3p-dependent PlGF and eNOS downregulation in the pathogenesis of preeclampsia and establish miR-214-3p as a therapeutic or preventive target for preeclampsia and its complications.
PubMed: 38825645
DOI: 10.1038/s12276-024-01237-8 -
Kidney & Blood Pressure Research May 2024IgA nephropathy (IgAN) is a prevalent worldwide glomerular disease with a complex pathophysiology that has significant economic implications. Despite the lack of...
INTRODUCTION
IgA nephropathy (IgAN) is a prevalent worldwide glomerular disease with a complex pathophysiology that has significant economic implications. Despite the lack of successful research, this study aims to discover the potential competing endogenous RNA (ceRNA) network of autophagy-associated genes in IgAN and examine their correlation with immune cell infiltration.
METHODS
Autophagy-related hub genes were discovered by assessing the GSE116626 dataset and constructing a protein-protein interaction network. Nephroseq v5 analysis engine was used to analyze correlations between hub genes and proteinuria, glomerular filtration rate (GFR) and serum creatinine levels. Then, a ceRNA network construction and the CIBERSORT tool for immune cell infiltration analysis were also performed. Additionally, the differentially expressed autophagy-related genes (DEARGs) were used to predict potential targeted medications for IgAN.
RESULTS
1396 differentially expressed genes (DEGs) were identified in IgAN along with 25 autophagy-related differentially expressed messenger RNAs (DEmRNAs). Enrichment analysis revealed significant involvement of autophagy and apoptosis in biological processes. Next, we evaluated the top hub nodes based on their highest degrees. The ability of IgAN discrimination was confirmed in the GSE35487 and GSE37460 datasets by validating the five hub genes: SIRT1, FOS, CCL2, CDKN1A and MYC. In the Nephroseq v5 analysis engine, the clinical correlation of the five hub genes was confirmed. Furthermore, the ceRNA network identified 18 circular RNAs and 2 microRNAs associated with hub autophagy-related genes in IgAN. Our investigation identified hsa-miR-32-3p and hsa-let-7i-5p as having elevated expression levels and substantial diagnostic value. Finally, four distinctively infiltrated immune cells were found to be associated with the hub autophagy-related genes, and 67 drugs were identified as potential therapeutic options for IgAN.
CONCLUSION
This study sheds light on a novel ceRNA regulatory network mechanism associated with autophagy in IgAN development.
PubMed: 38824914
DOI: 10.1159/000539571 -
Veterinary Medicine and Science Jul 2024The aim of this study is to describe a case of haemoglobinuria in a cat after near-drowning. A 6-year-old male neutered domestic short hair cat weighing 6.5 kg with a...
The aim of this study is to describe a case of haemoglobinuria in a cat after near-drowning. A 6-year-old male neutered domestic short hair cat weighing 6.5 kg with a pre-existing seizure disorder presented to an emergency hospital after near-drowning in a swimming pool during a seizure episode. On presentation, the patient was obtunded, dyspnoeic, bradycardic and hypothermic. Imaging revealed evidence of severe bilateral pulmonary infiltrates. Treatment with intravenous diazepam, amoxicillin, fluid therapy, active warming and oxygen therapy was administered. The cat developed haemoglobinuria approximately 6 h after nearly drowning. Despite improvements in mentation, pulse quality and heart rate, respiratory compromise and poor oxygen saturation persisted, prompting euthanasia approximately 10 h after admission. To the author's knowledge, this is the first reported clinical case of haemoglobinuria following near-drowning in veterinary medicine.
Topics: Cats; Animals; Male; Cat Diseases; Hemoglobinuria
PubMed: 38818774
DOI: 10.1002/vms3.1451 -
International Journal of Medical... 2024This study aimed to build and validate a practical web-based dynamic prediction model for predicting renal progression in patients with primary membranous nephropathy...
This study aimed to build and validate a practical web-based dynamic prediction model for predicting renal progression in patients with primary membranous nephropathy (PMN). A total of 359 PMN patients from The First Affiliated Hospital of Fujian Medical University and 102 patients with PMN from The Second Hospital of Longyan between January 2018 to December 2023 were included in the derivation and validation cohorts, respectively. Renal progression was delineated as a decrease in eGFR of 30% or more from the baseline measurement at biopsy or the onset of End-Stage Renal Disease (ESRD). Multivariable Cox regression analysis was employed to identify independent prognostic factors. A web-based dynamic prediction model for renal progression was built and validated, and the performance was assessed using. An analysis of the receiver operating characteristic and the decision curve analysis. In the derivation cohort, 66 (18.3%) patients experienced renal progression during the follow-up period (37.60 ± 7.95 months). The final prediction rule for renal progression included hyperuricemia (HR=2.20, 95%CI 1.26 to 3.86), proteinuria (HR=2.16, 95%CI 1.47 to 3.18), significantly lower serum albumin (HR=2.34, 95%CI 1.51 to 3.68) and eGFR (HR=1.96, 95%CI 1.47 to 2.61), older age (HR=1.85, 95%CI 1.28 to 2.61), and higher sPLA2R-ab levels (HR=2.08, 95%CI 1.43 to 3.18). Scores for each variable were calculated using the regression coefficients in the Cox model. The developed web-based dynamic prediction model, available online at http://imnpredictmodel1.shinyapps.io/dynnomapp, showed good discrimination (C-statistic = 0.72) and calibration (Brier score, P = 0.155) in the validation cohort. We developed a web-based dynamic prediction model that can predict renal progression in patients with PMN. It may serve as a helpful tool for clinicians to identify high-risk PMN patients and tailor appropriate treatment and surveillance strategies.
Topics: Humans; Glomerulonephritis, Membranous; Male; Disease Progression; Female; Middle Aged; Adult; Glomerular Filtration Rate; Prognosis; Kidney Failure, Chronic; Receptors, Phospholipase A2; Retrospective Studies; Kidney; Risk Factors; ROC Curve; Proteinuria
PubMed: 38818472
DOI: 10.7150/ijms.95321