We report a case of a right gluteal mass from the sacroiliac joint to the knee of an infant girl. Biopsy showed histopathological features similar to infantile fibrosarcoma (IFS). However, unlike most IFS, no ETV6-NTRK3 fusion gene abnormality was detected. Molecular analysis with TruSight RNA Pan-Cancer Panel detected the presence of KIAA1549-BRAF translocation and an oncogenic NF2p.Q459* SNV with potential clinical significance. A review revealed that the combination of this patient’s tumor site with the presence of a KIAA1549-BRAF translocation abnormality and an accompanying single nucleotide variant has not been previously described. The detection of this translocation abnormality raises the possibility that the spindle cell tumors in infants with an absence of the ETV6-NTRK3 fusion gene abnormality might have a distinct pathogenetic mechanism different from the previously known IFS and congenital mesoblastic nephroma. Furthermore, the discovery of BRAF translocation and its aberrant signaling of the mitogen-activated protein kinase (MAPK) pathway in this tumor contributes to the promise of clinical benefit of using the MEKi trametinib for the treatment of progressive disease that is refractory to conventional chemotherapy.
Purpose: The sinusoidal obstruction syndrome (SOS) of the liver is an obliterative vasculitis that involves the terminal branches of the hepatic venules and sinusoids. When it is not treated, it will be a serious risk of mortality. Here, we aim to present our patient who has been associated with recurrent cholangitis attacks due to cholelithiasis and choledocholithiasis and is associated with sinusoidal obstruction syndrome with the literature.Description of the case: A 30 years old male patient had complaints of abdominal pain and nausea for a long time. The patient had a history of choledocholithiasis and cholangitis attacks. Although ERCP was performed and a stent was placed in the biliary tract, his jaundice did not disappear. Liver function tests were high. Tumor markers were negative.Methods: We could not make a definitive diagnosis with imaging methods and biopsy and we planned surgery. We performed segmental liver resection and biliary diversion in the surgery. Histopathological examination of the resected liver tissue was compatible with SOS.Conclusion: Many studies have been done on the etiology of SOS and different causes have been revealed. Accompanied with clinical findings, a definitive diagnosis is made with the exclusion of the presumptions considered. Surgery can be performed for both diagnostic and therapeutic purposes. If patients with elevated liver function tests and bilirubin have long-term abdominal pain, SOS should be bear in mind.
Susanne Koeppen*, Jörg Hense, Kay Wilhelm Nolte and Joachim Weis
Published on: 3rd January, 2022
Treatment options in multiple myeloma (MM) based on novel agents are often limited by dose-related neurotoxicity. Bortezomib, a highly active reversible proteasome inhibitor, frequently causes peripheral neuropathy (PN). Bortezomib-induced PN (BIPN) is characterized by a length-dependent, sensory, axonal polyneuropathy (PNP) with predominant small fiber-affection. Following dose reduction or drug discontinuation, BIPN resolves within 3-4 months in the majority of patients. The pathophysiological mechanisms of BIPN are unclear. Rare cases of a severe demyelinating or mixed BIPN with prominent motor involvement have been attributed to autoimmune or inflammatory reactions. A case report, including nerve pathology, is presented of a 59-year-old man with stage III IgG-κ MM who was treated with bortezomib on the occurrence of progressive disease. After the fourth cycle, he developed a painful distal symmetric sensory PNP followed by gait instability and muscle weakness increasing over 3 months despite early cessation of bortezomib.Neurological examination revealed a distal flaccid tetraparesis mainly of the lower limbs with sensory loss and severe ataxia, electrophysiological features of a mixed axonal-demyelinating PNP, and pathomorphological evidence of neuritis. Steroid treatment was initiated, and partial recovery of the neurological symptoms within 6 months was observed. While a neurotoxic effect may explain the initial distal sensory disturbances, the worsening of neurological dysfunction after bortezomib withdrawal and the clinical pattern with steroid-responsive muscle weakness predominantly of the legs are consistent with an immune-mediated mechanism. This is in line with the sural nerve biopsy findings. Toxic BIPN followed by an immune-mediated BIPN in the same patient has not been reported before.
Background and objectives: Brainstem gliomas are tumors of the central nervous system which have varying presentations and clinical courses. This study aims to analyze the frequency, clinical and therapeutic aspects of brainstem glioma.Methods: We retrospectively analyzed the data from the record of the patients treated for brainstem glioma under the age of 20 between January 2007 and July 2020 in the Radiation Oncology department of the Ibn Rochd UHC.Results: There were fifteen patients (10 males and 5 females). The mean age of onset was 12 years (range 8 - 14 years). The duration of symptoms varied from 1 month to 2 years. Nine of the patients had intracranial hypertension due to hydrocephalus, six had cranial nerve deficits at presentation, and five patients had cerebellar signs. The lesion was pontine in 12 cases. None of the patients had a tumoral resection, nine had a ventriculo-peritoneal shunt insertion for the hydrocephalus and three had a Stereotactic biopsy that revealed one astrocytoma grade 1, one low grade glioma and one glioblastoma. The radiotherapy was indicated in all the cases but only nine patients had a 3D radiotherapy with a total dose of 54 Gy. Three patients received chemotherapy. Six patients are still alive, two are lost to follow up and seven patients are dead with a mean survival period of 8 months.Conclusion: Brainstem glioma is a devastating disease with a bad prognosis. The clinical presentation is variable and the management is multidisciplinary. Our study illustrates the importance of treatment by radiation.
A case of post-operative agranulocytosis which occurred in a 66-year-old woman following surgery for endometrial carcinoma is reported. The agranulocytosis had a rapid onset, being detected on the first post-operative day. The causative agent, cefazolin was given to the patient intraoperatively. The agranulocytosis persisted until the 22nd postoperative day. A bone marrow biopsy performed on post-operative day four showed a left-shifted myeloid maturation pattern but not a maturation arrest. The pathogenesis of drug-induced neutropenia/agranulocytosis is discussed. It is postulated that reversible binding of cefazolin to albumin accounts for the prolonged duration of agranulocytosis.
Oriba Dan Langoya*, Adrian Mwota Nampogo and Andia Irene
Published on: 15th March, 2022
Introduction: Tuberculosis (TB) continues to pose a significant public health problem worldwide. Tuberculous meningitis (TBM) is the most devastating form of extrapulmonary TB however other forms of central nervous system (CNS) disease include tuberculoma and spinal arachnoiditis. TBM carries high mortality even for a patient who is already receiving treatment. The difficulty in diagnosis often leads to a delay in treatment and subsequent mortality. The emergence of Xpert ultra has improved the rapid detection of MTB and rifampicin resistance in CSF and is the preferred diagnostic tool in TBM.Case: In this case report we present a 33 years patient of concern who presented with progressive lower limb weakness associated with pain and paresthesia for 4 months, admitted via the Orthopedic unit with a diagnosis of spinal mass (meningioma, neurofibroma, or nerve sheath tumor) for which biopsy was done and revealed a chronic inflammatory process, necrotic bone lesions with no granulomas and no malignancy, he was later diagnosed with tuberculous meningitis and promptly started anti-tuberculous therapy with a dramatic recovery and improvement in neurological function.Conclusion: Tuberculous meningitis conditions have high morbidity and mortality yet diagnosis and start of treatment continue to experience an important delay. Clinicians should keep in mind the limitations of clinical presentation due to pleiotropy and current diagnostics and should employ a combination of diagnostic modalities in addition to a high index of suspicion to prevent morbidity in patients with TBM.
A 61 - year-old physically fit and athletic man presented to his dermatologist with a 10 mm raised, dark lesion on the left side of his neck. A complete skin examination did not show any other abnormal areas of skin. Pathology was found consistent with Merkel cell cancer, and the patient was referred to surgery for a wide local excision and sentinel lymph node biopsy. A PET scan did not show any other areas of concern. At surgery, one of two sentinel lymph nodes was found to be involved with Merkel cell cancer and the patient received postoperative radiation.
Cancer metastasis to the pituitary gland is rare, but in most cases, it originates from a late-stage breast tumor or lung cancer. The most common symptoms of metastasis to the pituitary gland are diabetes insipidus and visual disturbance. The common site of metastasis is the posterior portion of the pituitary gland because it is highly vascularized. Metastases to this site represent 1% of all tumors [1]. Metastasis to the pituitary gland is difficult to diagnose by hormonal analysis and magnetic resonance imaging of the brain and requires biopsy for confirmation [2].
Lucia Zampaglione, Aurélie Bornand, Nicolas Goossens, Lucas Ramer, Giulia Magini, Marie Ongaro, Andreas Cerny, Laura Rubbia-Brandt, Jean-Louis Frossard and Laurent Spahr*
Published on: 23rd September, 2022
Acute Q fever is a worldwide zoonotic infection due to C. burnetii that may be associated with hepatitis. Nonspecific clinical and biological manifestations may accompany liver involvement, including hepatomegaly and elevated liver biological tests. However, the presence of jaundice is rare. Therefore, making a diagnosis of Q fever hepatitis may be difficult in an afebrile patient with jaundice of recent onset, altered liver function tests, excessive alcohol intake and no reported contact with animals. We report here the diagnostic work-up and complex clinical management of a patient presenting with acute hepatitis resulting from both C. burnetii infection and severe alcoholic steatohepatitis. Positive serology together with a detailed examination of the liver biopsy was able to reveal the coexistence of both Q fever hepatitis with typical fibrin-ring granulomas as well as florid lesions of alcoholic steatohepatitis. A combination of antibiotics, hydroxychloroquine and steroids, guided by the helpful description of changes in histological alterations on repeated liver biopsies during the course of the disease contributed to the slow but favorable outcome.
Panagiotis Antoniadis*, Florentina Alina Gheorghe, Madalina Ana Maria Nitu, Cezara Gabriela Nitu, Diana Roxana Constantinescu and Florentina Duica
Published on: 29th September, 2022
Through the development of new analysis technologies, many issues regarding the approach to tumoral diseases have been elucidated. With analytical assays developed in the last years, various omics technologies have evolved in such a manner that the characteristics of tumor cells and products can be evaluated (assessed) in the bloodstream of cancer patients at different times. Ovarian Cancer (OC) is one of the most difficult to diagnose umors, with low survival rates due to the high heterogeneity of these diseases that are distinct in terms of etiology and molecular characteristics, but which simply share an anatomical appearance. Recent findings have indicated that several types of ovarian cancer classified into different histotypes are in fact derived from non-ovarian issues and share few molecular similarities. Within this context, ovarian cancer screening and diagnosis can be made through the evaluation of circulating tumor cells in peripheral blood using liquid biopsy technologies. Advances in the study of various molecules analyzed by liquid biopsy have shown that elucidation of intratumoural and intertumoural heterogeneity and spatial and temporal tumor evolution could be traced by serial blood tests rather than by histopathological analyses of tissue samples from a primary tumor. Therefore, evaluation of some molecules such as circulating tumor cells (CTC), circulating tumor DNA (ctDNA), circulating cell-free RNA (non-coding and mRNA, extracellular vesicles), tumor-educated platelets or different miRNAs using liquid biopsy could lead to improvement of patient management.
Vijayalakshmi Kory*, Thirumazhisai S Gunasekaran, Kumail Hussain, Tiffany Patton, Yi Li, Cheryl LeFaiver and James Berman
Published on: 27th October, 2022
Studies in children with eosinophilic esophagitis (EoE) have reported esophageal strictures but none have examined risk factors associated with strictures. Aim: To assess risk factors associated with strictures in children with EoE. Methods: In this retrospective study, children with EoE seen over 20 years were separated into two groups; with and without strictures. Physical features, CBC, endoscopic findings, and biopsy of the distal and mid-esophagus were captured. Statistical significance with p - value and multivariate logistic regression was done. Results: Total patients 222 and 20 (9.1%) had strictures. Mean age of stricture patients 12.7 years (range 7-18) and non-stricture 9.3 years (range 1-17) (p = 0.006). Among stricture patients following were prevalent and significant; dysphagia (stricture 100% vs. non-stricture 41.6%, p = 0.0005) and food impaction (70.04% vs. 4%, p = 0.0005); EGD: rings and exudates were strongly associated with stricture, 45.0% vs. 4.5%, p = 0.0005 and 60% vs. 30.7%, p = 0.008, respectively. Abdominal pain was lower in the stricture group (5% vs. 31.2%, p = 0.017). Eosinophil counts were numerically more in the stricture group but not significant. Multivariate logistic regression confirmed that strictures are likely to occur among patients with dysphagia (p = 0.02, OR = 11.7, 95% LCL 2.0) and food impaction (p = 0.0001, OR = 80.9, 95% LCL 15.4), respectively, adjusted for age and gender. Conclusion: EoE children with dysphagia or food impaction have a higher chance of having an esophageal stricture. These EoE children 12 years or over with exudates or rings on endoscopy, should be treated and carefully monitored, to reduce the risk of stricture formation.
Kundana Rayamajhi*, Richa Bansal and Bharat Aggarwal
Published on: 14th February, 2023
Aim: To determine the correlation between mammographic features of breast cancer with molecular subtypes and to calculate the predictive value of these features. Materials and method: This is a retrospective study of breast cancer patients presenting between January 2017 and December 2021, who underwent mammography of the breast followed by true cut biopsy and immunohistochemical staining of the tissue sample. Breast carcinoma patients without preoperative mammograms, those unable to undergo histopathological and IHC examinations and h/o prior cancer treatment were excluded. On mammography, size, shape, margins, density, the presence or absence of suspicious calcifications and associated features were noted. Results: Irregular-shaped tumors with spiculated margins were likely to be luminal A/B subtypes of breast cancer. Tumors with a round or oval shape with circumscribed margins were highly suggestive of Triple negative breast cancer. Tumors with suspicious calcifications were likely to be HER2 enriched. Conclusion: Mammographic features such as irregular or round shape, circumscribed or noncircumscribed margins and suspicious calcifications are strongly correlated in predicting the molecular subtypes of breast cancer and thus may further expand the role of conventional breast imaging.
Jacob Al-Dabbagh*, Nemat Ismail, Mohammad Haitham Ismael, Lina Al-Soufi and Zuheir Al-Shehabi
Published on: 14th March, 2023
Sarcoidosis is a granulomatous disease that involves multiple systems. Cutaneous involvement can manifest in patients with sarcoidosis and can present with or without systemic involvement. We present a case of cutaneous sarcoidosis in a Syrian woman that showed improvement after a combination of methotrexate and prednisolone therapy. The patient had unusual chest radiography findings and developed an unexplained fissured tongue after 5 days of receiving methotrexate therapy. In addition, the patient developed indurated erythematous plaque and papules on her upper right arm at the same location as a performed biopsy, which increased the diagnosis of a newly formed scar sarcoidosis although she was receiving her treatment.
Raheel Khan, Atiq-ur-Rehman Selehria, Hafsa Aquil, Atif Sheraz, Sara Khan, Najwa Zahoor and Anashia Kayani*
Published on: 10th April, 2023
Gliomas are known to be one of the most grievous malignant central nervous system (CNS) tumors and have a high mortality rate with a low survival rate severe disability and increase risk of recurrence. Aim of his study is to determine the diagnostic accuracy of apparent diffusion coefficient (ADC) in differentiating low-grade and high-grade gliomas, taking histopathology as the gold standard. It is a Cross-sectional validation study conducted at the Armed Forces Institute of Radiology and Imaging, (AFIRI) Rawalpindi, Pakistan from 28th February 2022 to 27th August 2022.Materials and methods: A total of 215 patients with focal brain lesions of age 25-65 years of either gender were included. Patients with a cardiac pacemaker, breastfeeding females, de-myelinating lesions and malignant infiltrates, and renal failure were excluded. Then diffusion-weighted magnetic resonance imaging was performed on each patient by using a 1.5 Tesla MR system. The area of greatest diffusion restriction (lowest ADC) within the solid tumor component was identified while avoiding areas of peritumoral edema. Results of ADC were interpreted by a consultant radiologist (at least 5 years of post-fellowship experience) for high or low-grade glioma. After this, each patient has undergone a biopsy in the concerned ward, and histopathology results were compared with ADC findings. Results: Overall sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of apparent diffusion coefficient (ADC) in differentiating low- and high-grade gliomas, taking histopathology as the gold standard was 93.65%, 87.64%, 91.47%, 90.70% and 91.16% respectively. Conclusion: This study concluded that apparent diffusion coefficient (ADC) is the non-invasive modality of choice with high diagnostic accuracy in differentiating low- and high-grade gliomas.
Introduction: Cardiac tamponade is an emergency syndrome that requires fast diagnosis and treatment; otherwise patient follows obstructive shock and cardiac arrest. Case report: A 70-year-old female was brought to the emergency department with hypoxemia. She had a history of progressive dyspnea over the past three weeks. Past medical history includes smoking. On physical examination: tachypnea, hypoxemia (SaO2 89%), jugular venous distention, arterial pressure 220/100 mmHg, heart rate rhythmic of 82 bpm. On pulmonary auscultation: diffuse and bilateral crackles. Lung ultrasound showed a bilateral B line and the echocardiogram demonstrated a pericardial effusion with signs of tamponade. A pericardiocentesis evacuated 620 ml of hemorrhagic fluid and the patient was transferred to the intensive care unit, hemodynamically stable, with SaO2 95%. At the ICU the echocardiogram, showed resolution of the cardiac tamponade and a tumor adhered to the lateral wall of the left ventricle. Chest CT demonstrated: a left lung tumor, infiltrating the pericardial sac. A pericardium biopsy demonstrated undifferentiated carcinoma. Discussion: Cardiac tamponade diagnosis requires a high level of suspicion. Respiratory failure, chest pain, and shock, observed in cardiac tamponade, are also present in different diseases. The most common finding of cardiac tamponade is dyspnea (78% of cases). Our patient had dyspnea due to pulmonary edema, secondary to left ventricle diastolic dysfunction caused by the tamponade. A bedside echocardiogram made the diagnosis of cardiac tamponade and guided the effective pericardiocentesis. Conclusion: Cardiac tamponade must be suspected in all cases of acute dyspnea. Echocardiogram is the method of choice for the diagnosis and for guiding the pericardiocentesis.
Carlos Carmona*, Marlon Castrillón, John Fredy Nieto, Gustavo Zuluaga, Luis Fernando Arias and Cristian Álvarez
Published on: 3rd November, 2023
Kidney transplantation is the therapy of choice for patients with end-stage kidney disease (ESKD). Nevertheless, the main limitation for long-term graft survival is immune-mediated rejection. Some authors have proposed that differences in immune effector mechanisms are influenced by underlying molecular mechanisms; thereby, the identification of differentially expressed genes in acute or chronic rejection in non-invasive samples such as urine may be essential for the identification of potential biomarkers and biological processes associated with allograft outcomes. Our aim was to explore differences in gene expression and functional categories associated with acute and chronic kidney rejection in blood, biopsy, and urine of kidney transplant patients using RNA-Seq. RNA was isolated and sequenced implementing standard protocols. Analyses were addressed to identify differentially expressed genes (DEGs) and Functional Categories of Gene Ontology comparing between samples. Then we focused on immune genes and pathways to identify their association with the allograft. We identified a significant transcriptional similarity between biopsy and urine, in comparison with blood in acute and chronic rejection. Functional analyses suggested an enrichment of immune processes such as antigen processing and presentation, and regulation of B cell receptor signaling pathway in blood of acute and chronic rejection, respectively. Additionally, we observed an increase in expression of chemokines in biopsy and urine of both outcomes along with an increase in chemokine receptors in blood. Our findings suggest that urine is suitable for identifying potential biomarkers and biological processes related to renal allograft rejection, as it shares a significant number of regulated genes with biopsy.
Background: The presence of a multifaceted microbiological etiological factor of surgical infection and differentiated sensitivity to antibacterial drugs determines the need to develop more effective means and methods of influencing the purulent microflora of wounds. Physical treatment factors, in particular, low-frequency ultrasound and ionised plasma flows, should be considered promising for solving this problem.Materials and methods: The research was carried out based on the Scientific Center of Microbiology and the clinic of the Tashkent Medical Academy. Bacteriological studies of wound discharge and biopsy material were carried out. We studied the material of purulent-inflammatory diseases of soft tissues.Results: Wound-sounding through a dioxidine solution is most effective against gram-negative bacteria, and ultrasonic cavitation in combination with iodopyrone is most effective against gram-positive microorganisms. Treatment of purulent wounds with low-frequency ultrasound through a mixture of iodopyrone solution and ascorbic acid is effective against gram-positive and gram-negative microbes. Argon plasma flows have a high bactericidal effect mainly on gram-negative bacteria.Conclusion: The obtained data substantiate the need to choose a physical method of treatment of purulent wounds depending on the species composition of the wound microflora.
Elena Popa*, Raluca Ioana Avram, Andrei Emilian Popa and Adorata Elena Coman
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.
Hichem Sakhi*, Virgile Chevance, Laurette Kalifa, Riad Arana, Ariane Laparra, Guillaume Reverdito, Fares Ben Salem, Charles Pottier, Olivier Lambotte, Arshid Azarine* and Sondes Smaali
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.
Luca Damiani*, Giuseppe Argenziano, Andrea Ronchi, Francesca Pagliuca, Emma Carraturo, Vincenzo Piccolo and Gabriella Brancaccio
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.
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