Kidney Biopsy in Autosomal Dominant Polycystic Kidney Disease
Published on: 19th December, 2023
Proteinuria is an easily quantified biomarker of kidney disease and often a sign of glomerular pathology. Significant proteinuria is uncommon in cystic kidney diseases and should be further evaluated to exclude the presence of another simultaneous kidney disease. While renal biopsy is a valuable part of the diagnostic evaluation of proteinuria, careful consideration of risks and benefits is necessary before proceeding in a patient with bilateral renal cysts. We report the case of a man with Polycystic Kidney Disease (PKD) who was found to have nephrotic-range proteinuria. An ultrasound-guided kidney biopsy revealed evidence of Focal Segmental Glomerulosclerosis (FSGS), which was attributed to hyperfiltration-related injury in the context of extensive kidney cysts. Genetic testing did not reveal a cause of FSGS and showed a variant of uncertain significance in PKD1. We use this case to highlight three important issues that are applicable to patients with PKD: the role of diagnostic evaluation for proteinuria in cystic kidney disease, the feasibility of kidney biopsy despite the presence of bilateral renal cysts, and the roles and limitations of genetic testing in cystic kidney disease and FSGS.
Patient with Fibroadenoma on Biopsy, Found to have Phyllodes on Final Pathology: A Case Report
Published on: 28th December, 2023
Distinguishing between fibroadenomas and phyllodes tumors is a challenge in breast surgery, despite advances in both radiology and pathology. In this case report, we analyze a patient presenting with a breast mass with multiple core needle biopsy results consistent with fibroadenoma, who underwent enucleation and was found to have phyllodes tumor on final pathology, thereby requiring surgical re-excision. This case report highlights the importance of patient clinical presentation in differentiating fibroadenomas and phyllodes tumors and explores how to achieve appropriate margins upon surgical re-excision after prior enucleation of phyllodes tumor via ultrasound localization of a seroma.
Non-invasive Serological Markers of Hepatic Fibrosis – Mini Review
Published on: 14th May, 2024
Aim: This study examines the pathological outcomes of chronic liver injuries, with a focus on liver fibrosis. It emphasizes understanding the structural changes within the liver that may lead to cirrhosis and functional impairments, crucial for developing targeted antifibrotic therapies.Methods: Our approach reviews existing literature detailing the use of traditional diagnostic methods—biochemical and serological tests alongside liver biopsies. Additionally, we evaluate the reliability and efficacy of non-invasive techniques such as serological test panels and imaging examinations. These methods are compared to understand their viability as supplementary or alternative diagnostic tools to liver biopsy.Significance: Liver fibrosis, if unmanaged, can progress to severe conditions such as cirrhosis and hepatocellular carcinoma, making it vital to understand its progression and treatment options. This study underscores the need for precise and non-invasive diagnostic tools in the clinical management of liver fibrosis, providing insight into the progression of chronic liver diseases and potential therapeutic targets.Conclusion and future perspectives: The research confirms that while liver biopsy remains the definitive method for staging liver fibrosis, its risks and limitations necessitate the use of enhanced non-invasive diagnostic techniques. These methods have shown promising results in accuracy and are critical for broadening clinical applications and patient safety.It is recommended that the scientific community continue to develop and validate non-invasive diagnostic tools. Enhancing the accuracy and reliability of these tools can provide a cost-effective, accessible, and safer alternative for large-scale screening and management of liver fibrosis in asymptomatic populations. Additionally, integrating advancements in radiologic and serological markers can further refine these diagnostic methods, improving overall patient outcomes.
Bicytopenia Revealing an Intramedullary Spinal Cord Metastatic Prostatic Carcinoma
Published on: 30th May, 2024
Usually revealed by lower urinary tract symptoms, prostate neoplasms are the most frequent urological cancer.The patient was a 70-year-old man being explored for bicytopenia in the hematology department: anemia and bicytopenia with no urinary symptoms in the first plan.Bone marrow biopsy was done and the histological and immunohistochemical concluded in an intramedullary spinal cord metastasis of an undifferentiated prostatic carcinoma.We have reviewed the literature one other case of intramedullary metastasis of prostatic cancer was detected but the main symptoms were neurological and the patient was already diagnosed with his cancer.
Fatal Immune Checkpoint Inhibitor-associated Myocarditis Mimicking Infiltrative Cardiomyopathy in a 54-year-old Woman with Metastatic Melanoma
Published on: 4th June, 2024
Introduction: Immune checkpoint inhibitors (ICI) have significantly improved cancer treatment outcomes, but cardiovascular complications such as ICI-associated myocarditis are a major concern. Diagnosing myocarditis requires integrating biomarkers, electrocardiogram (EKG), cardiac imaging, and endomyocardial biopsy. We present a case illustrating these diagnostic challenges, involving a female patient treated with pembrolizumab who developed fatal acute myocarditis mimicking infiltrative cardiomyopathy.Case report: A 54-year-old woman with mucosal melanoma, treated with pembrolizumab, was hospitalized in May 2023 due to dyspnea and elevated troponin levels. Initial cardiac workups were normal, but subsequent tests revealed borderline cardiac magnetic resonance imaging findings. In late May 2023, the patient was admitted with worsening dyspnea, elevated NT-pro-BNP, and severe hyperlactatemia. Imaging and endomyocardial biopsy confirmed acute myocarditis with atypical presentation, mimicking infiltrative cardiomyopathy. Despite aggressive immunosuppressive therapy, the patient’s condition deteriorated, resulting in cardiogenic shock and death seven days post-admission.Conclusion: This case underscores the diagnostic and management challenges of ICI-associated myocarditis, particularly with atypical presentations. It highlights the need for vigilant, comprehensive monitoring and further research to improve diagnostic and therapeutic strategies for managing these severe side effects in patients undergoing ICI therapy.
Pure Red Cell Aplasia - Post Major ABO Incompatible Allogenic Stem Cell Transplantation Role of Ibrutinib
Published on: 24th July, 2024
Pure Red Cell Aplasia (PRCA) is a well-recognized complication of Major ABO-incompatible allogeneic stem cell transplantation. It is featured by anemia, Reticulocytopenia, and the absence of erythroblasts in a normal-appearing bone marrow biopsy. The mechanism for PRCA is presumed to be the persistence of recipient isoagglutinins, produced by residual host B lymphocytes or plasma cells, which probably interfere with the engraftment of donor erythroid cells. Several risk factors for PRCA have been reported, such as the presence of Anti-A Isoagglutininsbefore transplantation, reduced intensity conditioning, absence of Graft Versus Host Disease (GVHD), sibling donor and Cyclosporin A(CsA) as GVHD prophylaxis. PRCA is not a barrier to going ahead with Hematopoietic Stem Cell Transplantation (HSCT). There are many therapeutic options however few recover spontaneously, among the available options include high-dose steroids, Erythropoietin(EPO), Plasma exchange, Donor lymphocyte Infusion (DLI), treatment with Rituximab, Bortezomib, Daratumumab and tapering or discontinuation of immunosuppression. All these options have variable success in the literature ranging from 30% - 70%, Non-responders become red cell transfusion dependent and their quality of life is impaired. We are reporting a novel therapeutic option, Ibrutinib as an armamentarium in treating the PRCA post-HSCT, which works by blocking the Bruton Tyrosine Kinase (BTK) pathway thereby inhibiting the host B cell isoagglutinins production and good clinical response.
Sinonasal Myxoma Extending into the Orbit in a 4-Year Old: A Case Presentation
Published on: 30th July, 2024
Background: Sinonasal myxomas are exceptionally rare benign tumors in pediatric patients. This report presents the case of a 4-year-old boy diagnosed with a sinonasal myxoma extending into the right orbit.Case presentation: The patient’s clinical presentation included moderate-angle esotropia and ocular torticollis. Advanced imaging revealed an expansile lesion in the right posterior ethmoid cavity with orbital involvement. The differential diagnosis considered included malignancies such as rhabdomyosarcoma and lymphoma, as well as benign neoplasms and inflammatory changes. A biopsy confirmed the diagnosis of sinonasal myxoma. The patient underwent a wide local resection performed by a multidisciplinary team, leading to a confirmed histopathological diagnosis of sinonasal myxoma.Conclusion: This case highlights the diagnostic challenges and the importance of thorough clinical and radiologic evaluation in pediatric patients with unusual ocular symptoms. The report underscores the need for a multidisciplinary approach in managing rare neoplasms such as sinonasal myxomas.
Atypical Anti-GBM with ANCA Vasculitis- A Rarest of the Rare Entity: Index Case from Eastern India
Published on: 13th September, 2024
Anti-glomerular basement membrane (GBM) antibody glomerulonephritis is an extremely rare glomerular disease. Around 90% of the patients are positive for serum anti-GBM antibodies while up to 10% can be negative. In such patients, only a kidney biopsy can reveal the anti-GBM disease it is then labeled as an atypical anti-GBM disease. Though anti-GBM disease can be associated with Anti Neutrophil Cytoplasmic Antibodies (ANCA) positivity, it is extremely rare to find atypical anti-GBM with ANCA positivity so much so that till now there are very few such cases reported from across the world.The case presented here is one such case where the patient presented with adult-onset nephrotic syndrome features with active urinary sediments and mildly deranged renal function. Myeloperoxidase (MPO) ANCA was positive and it was considered ANCA-associated crescentic glomerulonephritis (GN) but after the renal biopsy the picture was of anti-GBM disease. She was treated with pulse methylprednisolone but her creatinine increased in the meantime and considering anti-GBM she was put on Plasma Exchange (PLEX). She received 5 sessions of PLEX after which her renal function improved. She was also planned for Rituximab which could not be given due to local infection. As there are no protocols for treating such cases because of the extremely rare nature of the presentation, this case will increase the understanding of such presentations for the clinicians. This will help to plan for building the approach for such cases.
Anatomo-clinical and Etiological Profile of Nephropathies Biopsied in the Nephrology Department of the Thies Regional Hospital (Senegal)
Published on: 30th September, 2024
Introduction: In many developing countries, particularly in Africa, the use of renal biopsy (RB) in clinical nephrology is severely lacking. The objectives were to describe the anatomoclinical and etiological profile of these biopsied nephropathies, as well as the factors associated with the etiology of the nephropathies.Patients and method: This was a retrospective descriptive and analytical study from 1 April 2020 to 30 October 2022. The patients were selected from the renal biopsy register of the nephrology department of the Thiès Regional Hospital. Sociodemographic, clinical, biological, and histological parameters were studied.Results: 75 renal biopsies were included. The mean age was 33.3 ± 14.8 years, with a male predominance (65.3%). The main indications were nephrotic syndrome in 50.67% of cases. RB was adequate in 82.7%, inadequate in 13.3%, and borderline in 4%. Glomerular nephropathies predominated, with focal segmental glomerulosclerosis (FSGS) in 34.7%, membranous nephropathy (MN) in 17.3%, minimal change disease (MCD) in 10.67%, extracapillary glomerulonephritis (ECGN) in 5.3% and lupus nephritis (LN) in 3.9%. Thrombotic microangiopathy (TMA) was found in 9.3%. Chronic tubulointerstitial nephropathy (CTIN) accounted for 5.3% of all RB and acute tubular necrosis (ATN) for 4%. The etiologies were primary in 48%, secondary in 28%, and undetermined in 24%. In the bivariate analysis, the etiology was correlated with the mean SBP (p = 0.023), the mean level of hemoglobin (p = 0.028), the levels of GFR (p = 0.017), and the type of kidney disease (p = 0.000).Conclusion: Glomerular nephropathy was more frequent and FSGS was the most common histological lesion found. Primary causes predominated. Associated factors were identified to improve patient management.
A Cutaneous Metastasis of Bladder Cancer: A Case Report
Published on: 8th October, 2024
Usually affecting men in the sixth decade bladder cancer is generally revealed by hematuria or lower urinary tract symptoms. Cutaneous metastases are very rare in genitourinary tumors representing only 1.34% of cutaneous metastases of other neoplasms. The presence of cutaneous metastases is associated with a poor prognosis with a median survival of fewer than 12 months.We reported the case of a 65-year-old man current smoker who presented a cutaneous metastasis of urothelial bladder cancer confirmed after a cutaneous biopsy, palliative chemotherapy was initiated after multidisciplinary staff.
Idiopathic Immune Complex-Mediated Membranoproliferative Glomerulonephritis: A Significant Cause of End-Stage Kidney Disease in Children
Published on: 29th January, 2025
Introduction: Membranoproliferative glomerulonephritis (MPGN) is a significant cause of glomerulopathy and chronic kidney disease (CKD) or end-stage renal disease (ESRD) in children. The deposition of circulating immune complexes in the glomerulus and abnormal activation of the alternative complement pathway is believed to trigger the disease. However, there is limited knowledge regarding the optimal treatment and prognosis for children with immune complex-associated MPGN (IC-MPGN) and C3 glomerulopathy (C3G).Case report: We report the case of a 14-year-old child admitted for rapidly progressive glomerulonephritis with anuria managed on haemodialysis. The kidney biopsy showed an appearance compatible with MPGN on light microscopy, with immunoglobulin and complement C3 deposits on direct immunofluorescence. The prognosis was poor, with rapid progression to ESRD despite treatment combining corticosteroid therapy and immunosuppressants.Discussion and conclusion: Evaluating the effectiveness of different therapeutic approaches for MPGN in children is challenging due to the small sample sizes and the short duration of the published controlled studies. As a result, it is crucial to conduct more comprehensive trials that focus on both prognosis and treatment options.
The Need of Wider and Deeper Skin Biopsy in Verrucous Carcinoma of the Sole
Published on: 31st January, 2025
Verrucous carcinoma is a rare, slow-growing squamous cell carcinoma that can occur in acral regions, including the plantar surface, being named carcinoma cuniculatum. The tumor presents as a well-demarcated, exudative lesion, resembling benign conditions like warts or infections. In this case, a verrucous lesion on the left plantar surface initially appeared to be non-malignant, with multiple incisional biopsies showing only inflammation. A final excisional biopsy of a large part of it confirmed the initial suspicion of malignancy, prompting complete excision and appropriate management. This case underscores the importance of performing wide and deep biopsies for early diagnosis and timely treatment of a suspected verrucous carcinoma.
A Case of Rapidly Progressive Renal Failure with Unearthed Amyloidosis
Published on: 4th February, 2025
Amyloidosis-associated kidney disease commonly manifests with chronic glomerular symptoms including heavy proteinuria predominantly albuminuria. Clinical presentation ranges from full-blown nephrotic syndrome, hematuria, and hypertension to renal failure. In India patients with chronic kidney disease are mainly attributed to hypertension and diabetes but an underlying etiology such as amyloidosis needs to be unearthed and shouldn’t be ignored as an etiology. We report a case of a 60-year-old man with hypertension and hypothyroidism who presented with frothy urine for several years, b/l pedal edema for 15 days. Over the past 3 months, there was a serial increase in creatinine. As per CKD-EPI equation, the patient was CKD-4. As the patient was suspected to be rapidly progressive renal failure; a renal biopsy was planned. Biopsy reports were suggestive of Amyloidosis. Glomerular, vascular, and tubulointerstitial deposition of amyloid was seen. Based on renal biopsy and IHC staining; the patient’s diagnosis was AA-associated secondary renal amyloidosis. Thus in this case renal amyloidosis was an unearthed etiology.
Unmasking Renal Complications of Immunotherapy: A Case of Nivolumab-induced FSGS
Published on: 7th February, 2025
Immune Checkpoint Inhibitors (ICPIs), while revolutionizing cancer therapy through potentiation of anti-tumour responses via targeted blockade of T-lymphocyte inhibitory receptors, are associated with immune-related adverse events (irAEs), including diverse renal manifestations. This report presents a case of a 69-year-old male with urothelial carcinoma who developed Acute Kidney Injury (AKI) and nephrotic-range proteinuria following initiation of nivolumab, an anti-PD1 antibody, necessitating renal biopsy to clarify the aetiology. The biopsy revealed Focal Segmental Glomerulosclerosis (FSGS) with endotheliopathy, suggesting a direct ICPI-induced glomerular injury. This case underscores the need for heightened awareness of ICPI-associated glomerular disease, alongside more common renal adverse events such as Acute Interstitial Nephritis (AIN), and for the need for renal biopsy in such cases. While the incidence of ICPI-associated AKI is approximately 17%, and AIN is a more frequent finding, FSGS and other glomerular pathologies should also be considered. Current treatment for such renal events involves discontinuation of the ICPI agent and initiation of immunosuppression with glucocorticoids. The management of these cases requires prompt detection, timely diagnosis, and often interdisciplinary collaboration, thus highlighting the need for more case reports, research, and better treatment strategies.
Pneumothorax as Complication of CT Guided Lung Biopsy: Frequency, Severity and Assessment of Risk Factors
Published on: 12th February, 2025
Background: CT-guided lung biopsy is routinely performed minimally invasive procedure. Imaging findings in the lung can have a broad differential diagnosis; therefore, it is indicated for definitive determination of pulmonary nodules or masses. Post-biopsy complications are common with most of them manageable in daycare. As pneumothorax is the most common complication, frequency and severity of pneumothorax with assessment of risk factors and follow-up for resolution is necessary.Methods: A prospective evaluation of 123 biopsies with automated coaxial biopsy of 18 gauge was done. Post-biopsy pneumothorax was evaluated for its incidence and resolution. The studied risk factors were; patient age, sex, lesion location, lesion size, shortest pleural lesion depth, traversed lung parenchymal distance, presence of emphysema, fissure penetration, needle thoracic wall angle, and lesion characteristics.Results: Reported immediate post-procedural pneumothorax was 22% with 19% of mild, 4% of moderate and 2.4% of severe cases. 51.9% of cases showed resolution within 24 hours. The intervention was required in only 4.8% of biopsy cases. A significant p - value of pneumothorax with the nodule depth increased traversed lung parenchymal distance, acute needle angle, fissure puncture, and presence of emphysema was seen. Emphysema was an independent variable in pneumothorax in multivariate analysis.Conclusion: Pneumothorax is an unamenable consequence of CT-guided lung biopsy and a cautious approach should be kept in view of the variables that are associated with it to reduce its incidence and severity in patients.
Septic Shock on Bartholinitis: Case Report and Modern Surgical Approaches
Published on: 7th March, 2025
Bartholinitis, or Bartholin's gland abscess, is a relatively common gynecological condition among women of reproductive age. Its annual incidence is estimated at approximately 0.5 per 1,000 women, which corresponds to a lifetime cumulative risk of about 2%. The condition primarily affects patients between 20 and 50 years old, with a peak frequency observed between 35 and 50 years.After menopause, due to the natural involution of the gland, Bartholin's cysts and abscesses become less frequent, although they can still occur. Moreover, in women over 50, the appearance of a new mass in the gland region should prompt caution, as it may, in rare cases, indicate a carcinoma of the Bartholin's gland or an adjacent vulvar cancer. Therefore, for patients over 40 presenting with a newly emerged cyst or abscess, clinical guidelines recommend performing a biopsy or excision to rule out malignancy. We present the case of a 50-year-old woman with no significant medical history, who was urgently referred to the gynecological emergency department due to confusion, unexplained fever of 40 °C, and resistant leucorrhoea following a week of corticosteroid antibiotic therapy. Clinical examination revealed a large, tender right vulvar mass, indicative of an acute Bartholin's abscess. The patient exhibited signs of septic shock and was admitted to the ICU. Following a diagnosis of sepsis, broad-spectrum antibiotic therapy was initiated, alongside fluid resuscitation and norepinephrine support. Surgical drainage of the abscess confirmed the presence of E. coli. The patient's condition improved rapidly, and she was discharged on postoperative day 8 with no complications. This case underscores that while Bartholin's abscess is typically benign, severe complications, including septic shock, can occur—especially in patients over 50. The appearance of a new Bartholin's region mass in older women should prompt consideration of malignancy, necessitating biopsy or excision. Recent studies compare various therapeutic approaches including simple incision and drainage, Word catheter placement, marsupialization, silver nitrate application, and complete gland excision. Each method has its advantages and drawbacks, with marsupialization offering lower recurrence rates and higher patient satisfaction in many instances.
Clinical and Histopathological Mismatch: A Case Report of Acral Fibromyxoma
Published on: 7th April, 2025
Background: Acral Fibromyxoma (AFM) is a rare benign soft tissue tumour which is described as a fibromatous and myxoid tumour of skin and soft tissue. Case details: A 40-year-old male presented to the Dermatology outpatient department with swelling over the wrist of one year duration. The swelling was associated with mild pain, and it gradually increased in size to reach its present size. Cutaneous examination revealed a 2x2 cm mobile, cystic to firm, non-tender swelling over the dorsum of the right wrist. Based on its location and clinical features, it was provisionally diagnosed as a ganglion cyst and excision biopsy was done. Histology showed stellate-shaped cells in a myxoid background with round to oval nuclei having a small, inconspicuous nucleolus. Acral fibromyxoma presents a distinct histopathology including a myxoid stroma and spindle-shaped cells, which are essential for accurate diagnosis and management.
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