biopsy

Gastric mucosal calcinosis is a very rare pathology of the gastric mucosa. It may develop secondary to several diseases but may also be idiopathic in some cases. In this case, gastric mucosal calcinosis was diagnosed with endoscopic biopsy performed for a patient who presented to our clinic with heartburn and abdominal discomfort. This case involves a very rare gastric pathology, and is being studied here with reference to literature data.

Aim: Percutaneous core needle biopsy (CNB) is considered the gold standard technique for initial histological diagnosis of suspicious breast lesions seen on screening mammogram, but it is less reliable for diagnosing atypical ductal hyperplasia (ADH) due to significant rates of diagnosis upstaging to malignant disease after excision biopsy. The purpose of this study was to identify factors that predict diagnosis upstage to carcinoma in patients diagnosed with ADH on core biopsy. Methods: A retrospective database search identified 52 consecutive CNB of suspicious breast lesions revealing pure ADH. Inclusion criteria included asymptomatic women presenting for screening mammogram, who subsequently underwent surgical excision. Logistic regression analysis evaluated clinical, radiological, and histological factors. Results: A total of 52 patients with ADH on CNB were identified who met our criteria. Twenty-six of 52 patients (50%) were upstaged to ductal carcinoma in situ or invasive carcinoma, based on histological interpretation of the surgically excised specimen. Lesion size was showed to be a statistically significant predictor on univariable logistic regression analysis. Multivariate logistic regression analysis revealed Asian ethnicity and lesion size as independent predictors of malignancy (p = 0.050 and 0.011, respectively). Conversely, women of Middle Eastern and European origin and lesions < 15 mm on mammography were negative predictors of malignancy. Conclusion: Lesion size ≥ 15 mm on mammography and Asian ethnicity are independent risk factors for breast carcinoma in asymptomatic patients diagnosed with ADH on CNB.

A 51-year-old women presented with asymptomatic multiple polypoidal nodules over scalp with simultaneous papularnodular skin eruptions involving nose, nasolabial folds and forehead for 40 years duration. Her daughter also noted to be having multiple papularnodular skin eruptions involving nose, nasolabial folds and forehead which raised curiosity of possible familial condition. The punch biopsy of polypoidal nodule indicating histological evidence of spiradenoma was favour in diagnosis of Brook Spienger Syndrome. We report this case as this is a rare clinical entity.

McArdle’s Disease, or Glycogen Storage Disease Type V, is the result of a deficiency in one of the enzymes responsible for the metabolism of glycogen in the body. Individuals with this disease, lack or produce very small concentrations of the myophosphorylase or glycogen phosphorylase enzyme. McArdle’s disease is a metabolic and recessive genetic disease caused by a mutation on the PYGM gene located on chromosome 11q13. This gene is responsible for the synthesis of the myophosphorylase (or glycogen phosphorylase) enzyme. It is the most common form of muscular glycogenesis. We present here the clinical case of a 35 years old woman diagnosed with McArdle’s disease at the age of 21 after a visit to a Neurologist. It was confirmed that the patient had shown symptoms of this disease at least 10 years before definitive diagnosis: intolerance to exercise, asthenia and muscular weakness. In this report we describe the different signs and symptoms of the disease, as well as the tests performed to confirm the diagnosis by muscle biopsy and genetic analysis. McArdle’s disease is classified as a rare disease and often its diagnosis is delayed due to a lack of knowledge about its symptoms and signs. Our intention is to make, with the description of our clinical case, the information about this disease more available to physicians to prevent future misinterpretations and delayed diagnosis. A medical documentary we have created on “McArdle’s Disease” can be seen in YouTube using the following links: https://youtu.be/HAhoZ7jxz7Q (English version) and https://youtu.be/uZopzSHOl20 (Spanish version).

Background: Pulmonary artery bleeding secondary to iatrogenic injury is a troublesome intraoperative complication. The likelihood of encountering this complication is significantly higher in redo surgery for a number of reasons, including distortion of anatomical structures, adhesions and loss of tissue planes. Significant blood loss, although rare, remains a concern, and can occasionally be life-threatening. When significant bleeding from the pulmonary artery occurs, it can be a challenging situation to manage. Case Report: A 65 year old female was undergoing redo thoracic surgery in the setting of a completion lobectomy for biopsy-proven primary adenocarcinoma of the lung. Iatrogenic injury to the pulmonary artery resulted in significant bleeding that could not be managed by gaining proximal control due to dense adhesions. The novel decision to utilize a Foley catheter for balloon tamponade was taken, in order to provide sufficient haemostasis for definitive surgical repair of the defect to be undertaken Conclusion: The increased technical difficulties of redo thoracic surgery are well recognised. We describe the first case of Foley catheter balloon tamponade being utilized in the context of iatrogenic pulmonary artery bleeding during thoracic surgery.

Microvillositary inclusion disease also known as microvillositary atrophy is a rare congenital enteropathy containing a border abnormality in the brushes of enterocytes, manifesting as severe rebellious diarrhea in newborns and infants. It was first described in 1978 by Davidson, et al. The autosomal recessive mode of transmission is suggested because of the frequency of familial cases and inbreeding. Histopathology plays an essential role in establishing the diagnosis. In 2008, a common mutation was identified in most of the patients studied in the MYO5B gene that codes for the Myosin Vb protein, which helped in understanding the etiopathogeny of this pathology poorly described in the literature. The prognosis for this pathology is extremely bleak, requiring total parenteral nutrition for child survival. Intestinal transplantation is for the moment the only long-term solution. Materials and methods: We report the case of an infant aged 6 months, with no perinatal antecedent. There is 1st degree consanguinity, the mother has a history of deaths in younger siblings in undetermined circumstances. Who since the age of 3 days presents profuse liquid diarrhoea with malnutrition, dehydration and enormous abdominal distension? Several diagnoses were suspected before the jejune biopsy was carried out, which led to the diagnosis of a microvilliositary inclusion disease. The aim of our work is to highlight the rarest cause of neonatal rebel diarrhoea and to know how to include it among other differential diagnoses.

Physicists are generally trained in the Standard Model of Physics (SMP). This implies that they perceive and account for only 3 dimensions of space in a moment in time (3S-1t) (a 4-dimensional [4D] model). However, applying the SMP, more than fifty significant conundrums have arisen that are unexplained or incomplete. Explaining these within the SMP 4D fabric led to hypothesizing a ‘fifth force’, most recently the hypothetical ‘X17 particle’. We propose this hypothetical X17 may better be explained by a 9-dimensional model (9D) with gimmel. Our model, the Neppe-Close Triadic Dimensional Vortical Paradigm (TDVP) has amplified the ‘physics’ from 4 dimensions to 9D, specifically first postulating and then further demonstrating mathematically—starting with derivations of the Cabibbo angle—that 9 dimensions must exist. Moreover, this data is empirically demonstrated because the neutron, proton and electron mass-energy-gimmel equivalence in the Triadic Rotational Units of Equivalence (TRUE) as part of the TDVP model, exactly corresponds with the normalized data for the mass-energy equivalence volumetric data for these particles in the CERN Large Hadron Collider. This data shows definitively that we exist in a 9-dimensional finite, quantized, volumetric, spinning reality. This is, furthermore, embedded in an infinite continuity (9D+). Mathematically, applying this 9D+ model definitively requires an extra third component that is massless and energyless (‘gimmel’). Without gimmel, no particle in the universe would be stable. TDVP unifies nature because the same laws apply across the quantum, macro-world and cosmological reality. Our 4D experience is simply the physical component of 9D+ existence. Summary Amplification: At all levels, there is the consistent application of a 9-Dimensional quantized finite reality embedded within an infinite continuity. The application of gimmel specifically requires applying the 9-dimensional model and is based on necessary mathematical calculations not only at the quantal level (where the fifty plus unsolved, unexplained or contradictory conundrums can be explained somewhat, and there is no longer ‘quantum weirdness’), but at the macroscale level with more gimmel in the life elements (which, additionally, are consistently all cubic multiples of 108 cubed), as well as cosmologically, where the correlations with proportionate Dark Matter and Dark Energy are overwhelming. Moreover, these 9-dimensional plus factors together with Triadic Rotational Units of Equivalence (TRUE) and gimmel, allow numerous solutions that couldn’t otherwise be solved. For example, importantly, applying the simple mathematics of TRUE, we can demonstrate why gluons, while adequate in 4D, are impossible applying 9D. These solutions are simpler because we have markedly adapted George Spencer-Brown’s ‘Laws of Form’ to applying a new method of mathematical calculation, Edward Close’s ‘Calculus of Distinctions’ (COD) which recognizes quantal limits and that the nature of finite reality is quantized and volumetric. The COD includes distinguishing between content, extent, and impact. We emphasize the pioneering works of Wolfgang Pauli with his multidimensional model and his ‘Pauli Exclusion Principle’, Alfred Whitehead with ‘Process Philosophy’ and his ‘Principia Mathematica’ (with Bertrand Russell), Georg Cantor with Set Theory, and Roger Penrose with spinors and twistors. TDVP is a prime example of our broad new specialty of ‘Dimensional Biopsychophysics’ (DBP). DBP extends physics, consciousness, and the biopsychosocial to extra dimensions and applies mathematics empirically. Like Max Tegmark, we recognize the key role of mathematics as fundamental in nature, not just for application in calculation and operations.

58-year-old male patient who came to the dermatology service for a clinical picture consisting of generalized erythematous scaly and pruritic lesions of 2 years of evolution. The clinical judgments provided were: pityriasis versicolor, drop psoriasis, pityriasis rubra pilaris and secondary syphilis (without serology confirming this last hypothesis then). A biopsy of a lesion located on the right costal side was performed. The serology was negative in a second time.

Lesions that spontaneously come and go in central nervous system without any treatment at different time points and at different locations (CNS) usually lead ones to think of the possibilities of multiple sclerosis. However, sometimes there are exceptions. Surgical biopsy remains an important tool for definitive diagnosis in difficult cases. We report a case of intracranial diffuse large B cell lymphoma that spontaneously disappeared without any treatment and then reappeared at different time points and different locations.

A 61-year-old Brazilian black woman consulted with a nephrologist due to proteinuria identified on a routine urine test. She has a personal history of thymoma resection five years ago, followed by multiple episodes of pulmonary infections including mycobacteriosis, recurrent mucocutaneous candidiasis, and paraneoplastic pemphigus. Physical examination showed no edema or hypertension and laboratory tests identified proteinuria of 2.43 g/day without hematuria, serum creatinine of 0.69 mg/dl, urea 34 mg/dl, serum albumin of 2.4 g/dl, hemoglobin 10.9 g/dl, platelets 292,000/mm3, leukocytes 4950/mm3, lymphocytes 594/mm3 and neutrophils 3910/mm3. The hemolysis tests were negative and serum iron was low. Analysis of glicemia and serum lipids levels were normal as well as serum complement and imunoglobulins, except for an IgM level of 283 mg/dl (normal values 40 to 230 mg/dl) and undetectable IgE. Serologies for Syphilis, HIV, hepatitis B, C and antibodies for autoimmune diseases were negative. 

Granulomatosis with polyangiitis (GPA), a form of ANCA-associated vasculitis (AAV), is a rare disease with an often-occult presentation. It is more common in 4th and 5th decades of life but can be seen in all ages. This case report details a 76-year-old female presenting with abdominal pain, generalized weakness, and malaise, who was found to have pulmonary nodules on chest imaging. Biopsy of the lung nodule showed organizing pneumonia. Initially, antibiotics were used to treat the patient. However, she developed acute renal failure a few days after presentation and found to have positive serum C-ANCA as well as elevated ANCA-PR3 serologies. A subsequent kidney biopsy demonstrated pauci-immune necrotizing and crescentic glomerulonephritis that was consistent with GPA and the patient was started immediately on combination immunosuppressive therapy, plasmapheresis, and hemodialysis. GPA’s clinical and radiological presentation can mimic other common conditions such as pneumonia, malignancy, bacterial sinusitis, pulmonary tuberculosis, sarcoidosis, and urinary tract infection. Because of this, a high level of suspicion is required for early diagnosis and treatment to alter the high mortality rate in this disease entity. All forms of ANCA-associated vasculitis (AAV) should be in the differential diagnosis for all patients presenting with multiorgan system involvement particularly in individuals with pulmonary and renal manifesations.

Acute renal injury is a rare complication of idiopathic nephrotic syndrome with mesPGN. Here we present a 2-year-old male patient with 4 days history of anuria, generalized edema and hypervolemia. Any evidence other than proteinuria and renal failure could not be identified with laboratory tests and doppler ultrasonography. Anuric presentation was thought to be related with rapidly progressive glomerulonephritis, diffuse mesangial sclerosis or acute tubular necrosis. However, renal biopsy revealed mesangial proliferative glomerulonephritis (mesPGN). Prednisolone 2 mg/kg/day was prescribed. Diuresis was started gradually and on the 10th day of disease, anuria was resolved and acute renal injury recovered without any sequel. This case is presented because of the incompatibility between clinical findings and histopathologic diagnosis. It is concluded that although rare, anuria and acute renal injury could be the presenting symptom of idiopathic nephrotic syndrome in childhood. 

Oxalate nephropathy due to Hyperoxaluria and elevated serum oxalate level is a well-known cause for interstitial fibrosis, and ESRD. Conditions associated with high serum Oxalate, should be considered as a possible contributing factor for a patient’s tubular injury. Well known cause for Hyperoxaluria including enteric Hyperoxaluria (due to gastric bypass, chronic pancreatitis, small Bowel resection, or malabsorption, as well as depletion of enteric oxalate-degrading bacteria [e.g., Oxalobacter). Other known causes of oxalate nephropathy include primary Hyperoxaluria, ethylene glycol intoxication, vitamin B6 deficiency, excessive ingestion of vitamin C or dietary substances rich in oxalic acid, aspergillosis, prolonged renal failure and various drugs (e.g., Known medications to cause Oxalate Nephropathy are: Orlistat, Praxilene, COX-2 inhibitors). Unusual presentation with Acute Kidney Injury with incidental finding of high serum Oxalate in a patient with a known CKD stage III, recently started on Polyethelene Glycol to treat his constipation.

Atheroembolic disease (AED), or Cholesterol Crystals Embolism, is a systemic disease presented as a complication of severe atherosclerosis [1], where older age, male sex, diabetes hypercholesterolemia, smoking and hypertension [2], are the main risk factors for the development of Atherosclerosis, it is known that spontaneous atherosclerotic renal disease is rare in the absence of any vascular intervention [3], and in the absence of anticoagulant [4], or the absence of calcified aorta, with the most common presentation of the disease is subacute kidney injury progress into renal dysfunction occurs in like a staircase pattern and the renal dysfunction is usually observed several weeks after a possible intervention, caused by dislodging the micro cholesterol plaques from a major artery, and start showering multiple organs causing micro and macro embolic phenomena. In our case, we report acute kidney injury on a previously stable kidney disease in a female with diabetes mellitus type 2 presented with severe anemia, dyspnea, massive fluid overload with bilateral pleural effusion, patient had a history of multiple IV contrast exposures, with peripheral vascular occlusive disease (PVOD), required amputation of right below the knee amputation, presented during the COVID-19 pandemic, found with nephrotic syndrome, a kidney biopsy has shown cholesterol crystal embolization compatible with Athero-embolic Disease with severe Diabetic Nephropathy.

Flow cytometry (FCM) is a unique technique that allows rapid quantitative measurement of multiple parameters on a large number of cells at the individual level. FCM is based on immunolabelling with fluorochrome-conjugated antibodies, leading to high sensitivity and precision while time effective sample preparation. FCM can be performed on tissue following enzymatic or mechanical dissociation. The expression of epithelial antigens and cytokeratin isoforms help in distinguishing tumor cells from adjacent epithelial cells and from tumor infiltrating leukocytes. Tumor phenotypes can be characterized on expression intensity, aberrancies and presence of tumor-associated antigens as well as their cell proliferation rate and eventual heteroploidy. FCM can measure quantitative expression of hormone or growth factor receptors, immunoregulatory proteins to guide adjuvant therapy. Expression of adhesion molecules tells on tumor’s capacity for tissue invasion and metastasis seeding. Tumor heterogeneity can be explored quantitatively and rare, potentially emerging, clones with poor prognosis can be detected. FCM is easily applicable on fine needle aspiration and in any tumor related biological fluids. FCM can also be used to detect circulating tumor cells (CTC) to assess metastatic potential at diagnosis or during treatment. Detecting CTC could allow early detection of tumors before they are clinically expressed although some difficulties still need to be solved. It thus appears that FCM should be in the pathologist tool box to improve cancer diagnosis, classification and prognosis evaluation as well as in orientating personalized adjuvant therapy and immunotherapy. More developments are still required to better known tumor phenotypes and their potential invasiveness

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. 

Background: Relapsing polychondritis is a rare systemic disease characterized by recurrent inflammation, and often destruction, of cartilaginous tissues. Renal manifestations are rare. Membranous nephropathy complicating relapsing polychondritis has been reported only once previously, and there is no standardized treatment for membranous nephropathy associated with relapsing polychondritis.Case presentation: A 67-year-old Caucasian man with a history of chronic renal disease presented with 9 months of progressive dyspnea on exertion and 5 months of erythema, pain, and collapse of auricular cartilage. Imaging studies confirmed active inflammation of laryngeal, auricular, and costal cartilage and he was diagnosed with relapsing polychondritis.  Patient had longstanding proteinuria and renal biopsy demonstrated membranous nephropathy. Patient initially showed renal and respiratory improvement with etanercept, a tumor necrosis factor alpha inhibitor, treatment. However, subsequent disease and treatment-related complications led to a progressive overall clinical decline and patient died approximately 1 year following relapsing polychondritis diagnosis.Conclusion: Membranous nephropathy may rarely complicate relapsing polychondritis. In our case, both the cartilaginous inflammation and the renal disease improved after treatment with tumor necrosis factor alpha blockade, however complications of existing airway disease led to recurrent hospitalizations and eventually death.

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.

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.