OpenMed/multicare-articles huggingface dataset:
Efficacy of Venetoclax and Dexamethasone in Refractory IgM Primary Plasma Cell Leukemia with t(11;14) and TP53 Mutation: A Case Report and Literature Review
Authors: Salimah Valliani, Mir Ali, Omar Mahmoo, Sanjay Hinduja, Calvin K Chen, Lloyd Damon, Haifaa Abdulhaq
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Primary plasma cell leukemia (pPCL) is an uncommon disease. IgM multiple myeloma (MM) is an infrequent subtype that accounts for less than 1 percent of MM cases. IgM pPCL is quite rare with only a few cases published to date. We describe a case of a patient with IgM pPCL who initially presented with hyperviscosity syndrome requiring urgent plasma exchange. His bone marrow biopsy demonstrated t(11;14). He progressed on proteasome inhibitors, immunomodulating agents, and other chemotherapy medications but later achieved very good partial response (VGPR) to venetoclax and dexamethasone. Given the poor prognosis of pPCL, further studies using venetoclax alone or in combination with other novel agents as first-line treatment options are warranted particularly in patients with t(11;14).
Rapidly fatal Askin's tumor: a case report and literature review
Authors: Mustapha Laine, Ismail Abderrahmani Ghorfi, Dalal Lambatten, Fouad Kettani, Ahmed Abid
Journal: Pan Afr Med J (2014)
Keywords: askin tumor, ewing sarcoma, chest wall, malignancy, primitive neuroectodermal tumor
MeSH terms: Bone Neoplasms / pathology, Sarcoma, Ewing / pathology, Case Reports, Review, Adolescent, Adult, Fatal Outcome, Humans, Male, Young Adult, Askin Tumor

An 18-year-old male presented with a mass in the right anterior chest wall. Chest Computed tomography revealed a heterogenous mass of 19X13 cm in the right hemithorax with areas of necrosis. There was associated pleural effusion and infiltration of the soft parts of the chest wall. Bronchoscopy showed a tumor in middle lobe bronchus. CT guided biopsy of the mass was performed. Histological examination showed small round tumor cells with scanty cytoplasm, the nuclei are large and hyperchromatic. The tumor cells were positive for CD99 and neuron specific enolase, negative for cytokeratin, leukocyte common antigen and myogenin. Based on these histologic and immunohistochemical findings, the diagnosis of askin's tumor was made. The extension assessment was negative and the patient was given chemotherapy. Two months later, our patient died. Askin's tumor is a rare, highly malignant tumor affecting children and young adults. It is classified as primitive neuroectodermal tumor of the thoracopulmonary region. Prognosis remains poor. In our case, several prognostic factors may explain the shirt 'term survival, despite no distant metastasis were found: important tumor size, impossibility of surgical treatment and pleural effusion.
Colon bypass with a colon-flap augmentation pharyngoesophagoplasty
Authors: Mark Tettey, Frank Edwin, Ernest Aniteye, Martin Tamatey, Ekow Entsua-Mensah, Ernest Offosu-Appiah, Innocent Adzamli
Journal: Pan Afr Med J (2015)
Keywords: pharyngo-esophageal stricture, colon-flap, dysphagia, pharyngo-esophagoplasty
MeSH terms: Colon / surgery, Esophageal Stenosis / surgery, Esophagoplasty / methods, Pharyngeal Diseases / surgery, Case Reports, Adolescent, Burns, Chemical / complications, Child, Preschool, Constriction, Pathologic / chemically induced, Constriction, Pathologic / surgery, Esophageal Stenosis / chemically induced, Humans, Male, Pharyngeal Diseases / chemically induced, Severity of Illness Index, Surgical Flaps

Extensive caustic stricture of the upper aero-digestive system (oro- and hypo-pharynx) is a severe injury with limited surgical options. We adopted augmentation of the cicatrized upper aero-digestive tract with colon as our preferred management option. The aim of this report is to describe our initial experience with the technique of colon-flap augmentation pharyngo-esophagoplasty (CFAP) for selected patients with severe pharyngo-esophageal stricture. Between October 2011 and June 2013, three male patients (aged 16, 4 and 18 years respectively) underwent CFAP following extensive pharyngo-esophageal stricture. Postoperative recovery was uneventful in all three cases and all started swallowing within 7-10 days after surgery without significant dysphagia. Colon-flap augmentation pharyngo-esophagoplasty is an effective procedure for reconstruction of the pharynx and the hypopharynx after extensive caustic pharyngoesophageal structure in selected cases.
ELISA-Based Crossmatching Allowing the Detection of Emerging Donor-Specific Anti-HLA Antibodies through the Use of Stored Donors' Cell Lysates
Authors: G Schlaf, K Stöhr, A Rothhoff, W Altermann
Journal: Case Rep Transplant (2015)

About forty years ago the complement-dependent crossmatch assay (CDC-CM) was developed as standard procedure in order to select recipients without donor-specific antibodies directed against human leukocyte antigens of their given donors since the negative outcome of pretransplant crossmatching represents one of the most important requirements for a successful kidney graft survival. However, as a functional assay the CDC-CM strongly depends on the availability of donors' isolated lymphocytes and in particular on their vitality highly limiting its applicability for recipients treated with special drugs and therapeutic antibodies or suffering from underlying autoimmune diseases. In the great majority of these cases ELISA-based crossmatching has been demonstrated to be an adequate alternative procedure nevertheless leading to valid results. With these case reports we show for the first time that ELISA-based crossmatching is suitable to demonstrate the upcoming donor-specific anti-HLA antibodies as a consequence of allografting using deep-frozen deceased donor's material such as blood or spleen detergent lysate. Thus, this ELISA-based procedure first provides the option to routinely perform crossmatching using stored material of deceased donors in order to substitute or at least to complement virtual crossmatching, that is, the comparison of the recipients' anti-HLA antibody specificities with the donors' historically identified HLA types.
An Unusual Case of Left Atrial Mural Thrombus following Aortic Valve Replacement
Authors: Mohamed E Taha, Ammar Eljack, Hisham Ibrahim, Chanwit Roongsritong
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

The left atrial thrombus is a well-known complication of atrial fibrillation and rheumatic mitral valve disease and carries a high risk for systemic thromboembolism. They are generally dissolved after a certain period of optimal anticoagulation. A large thrombus, on the other hand, may persist even with adequate anticoagulation. The surgical removal of a thrombus theoretically poses some risk of systemic embolization, making its management a clinical dilemma. Furthermore, a refractory thrombus is uncommon. Thus, an evidence-based guideline in selecting the optimal therapy is needed. We report a case of a 74-year-old male with atrial fibrillation and a history of unprovoked pulmonary embolism who was incidentally found to have a massive left atrial thrombus shortly after discontinuing warfarin about 4 months following bioprosthetic aortic valve replacement. The thrombus was refractory to anticoagulation posing a clinical management dilemma. This case is interesting in terms of presentation and the approach to diagnosis and treatment.
Skull destruction from intracranial metastasis arising from pulmonary squamous cell carcinoma: a case report
Authors: Imran Kader, Michael Strong, Mathew George
Journal: J Med Case Rep (2013)

Introduction:
Squamous cell carcinoma of the lung represents 30% of all non-small cell lung carcinomas. It arises from dysplasia of squamous epithelium of the bronchi and is strongly associated with cigarette smoking. Squamous cell carcinoma of the lung is known to produce metastases in the brain parenchyma.
Case presentation:
We present the case of an 80-year-old indigenous Australian man with an unusual presentation of metastatic carcinoma of the lung. The case demonstrated a squamous cell carcinoma of the lung with an intracranial metastatic lesion destroying the parietal bone and extending into the extracranial soft tissue. A visible deformity as a result of the metastasis was evident on physical examination and computed tomography demonstrated extensive bone destruction.
Conclusion:
The authors were unable to find a case of this occurring from a squamous cell carcinoma of the lung anywhere in the world literature. The case report demonstrates an unusual disease presentation with a rare intracranial metastasis invading through the skull.
Superficial Inferior Epigastric Artery Flap for a Total Parotidectomy Defect
Authors: Lee W T Alkureishi, Mihir K Bhayani, Mark Sisco
Journal: Eplasty (2017)
Keywords: facial asymmetry, free flap, microsurgery, parotidectomy
MeSH terms: Case Reports

Introduction: The superficial inferior epigastric artery flap offers ample volume for reconstruction, an inconspicuous scar, and no functional donor site deficit. This report details its use for volume replacement after parotidectomy. Methods: We report a 27-year-old woman with recurrent acinic cell carcinoma, requiring left total parotidectomy and partial mastoidectomy. In anticipation of significant contour deficit and postoperative radiation, reconstruction with a superficial inferior epigastric artery adipose-free flap was performed. Results: Resection and reconstruction were carried out with no complications. The postoperative course was uneventful, with recovery of facial nerve function and an aesthetic, symmetrical outcome. The donor site scar is completely hidden by underwear. Conclusion: The superficial inferior epigastric artery flap represents an underused option in head and neck reconstruction. It offers similar benefits to that of the parascapular flap but with the advantages of a 2-team approach and a less conspicuous donor scar.
Chronic tophaceous gout with unusual large tophi: case report
Authors: Nassira Aradoini, Sofia Talbi, Khadija Berrada, Fatima Zahra Abourazzak, Taoufik Harzy
Journal: Pan Afr Med J (2015)
Keywords: gout, tophi, urate crystals
MeSH terms: Gout / pathology, Joints / pathology, Uric Acid / blood, Case Reports, Aged, Chronic Disease, Humans, Male, Uric Acid

Gout is a metabolic disease, which is characterized by acute or chronic arthritis, and deposition of monosodium urate crystals in joint, bones, soft tissues, and kidneys. But large tophi are unusual in chronic gout. We report the case of a 67-year-oldArabman presenting chronic tophaceous gout with unusual large tophi involving multiple joints: hands, feet, elbows, and knees. Laboratory workup revealed elevated serum uric acid (96 mg/l, normal: 20-74 mg/l), with normal renal function test. In untreated patients, chronic tophaceous gout may develop, which is characterized by chronic destructive polyarticular involvement and tophi. The treatment consists to decrease serum uric acid level which eventually allows the regression of tophi.
Full-endoscopic transpedicular discectomy (FETD) for lumbar herniations: Case report and review of the literature
Authors: Enrico Giordan, Jacopo Del Verme, Flaminia Coluzzi, Giuseppe Canova, Domenico Billeci
Journal: Int J Surg Case Rep (2020)
Keywords: discectomy, endoscopic, mini-invasive, percutaneous, transpedicular
MeSH terms: Case Reports

Introduction:
One of the most challenging occurrences in full-endoscopic surgery for lumbar disc protrusions are up-migrated or down-migrated herniations. Those occurrences are difficult to retrieve with transforaminal or interlaminar approaches.
Presentation of case:
We describe our experience in dealing with a right paramedian down-migrated L3-L4 disc herniation. The patient underwent full endoscopic transpedicular endoscopic discectomy (FETD), by reaming the right L4 peduncle for intracanal access and fragment retrieval. We also reviewed the recent literature to summarize the advantages of transpedicular approaches, along with current indications and contraindications for this procedure.
Discussion:
We highlighted how FETD is safe and feasible for down-migrated and up-migrated disc herniation showing excellent results in our patient and in the small cohorts of patients already published in the literature.
Conclusion:
FETD was effective in treating up-migrated and down-migrated disc herniation, as well as discal cysts, showing the feasibility and safety of the technique from any level from L1 to S1.
Granulomatosis with polyangiitis and neurofibromatosis type 1: a fortuitous association? (a case report)
Authors: Berriche Olfa, Romdhane Wiem, Arfa Sondess, Chelly Jihene, El Arbi Fatma, Alaya Wafa
Journal: Pan Afr Med J (2021)
Keywords: granulomatosis, case report, neurofibromatosis type 1, polyangiitis, vasculitis
MeSH terms: Granulomatosis with Polyangiitis / diagnosis, Neurofibromatosis 1 / diagnosis, Tomography, X-Ray Computed, Case Reports, Adolescent, Antibodies, Antineutrophil Cytoplasmic / immunology, Granulomatosis with Polyangiitis / physiopathology, Humans, Male, Neurofibromatosis 1 / physiopathology, Antibodies, Antineutrophil Cytoplasmic

Neurofibromatosis type 1 is a common neurocutaneous syndrome, caused by an alteration of the NF-1 gene, which is a tumor suppressor. It has been reported to be associated with different types of benign and malignant tumors but its association to systemic diseases is uncommon and has not been reported previously to be associated with vasculitis particularly granulomatosis with polyangiitis (GPA). We report a case of a 17-year-old male patient, who, during his follow-up for neurofibromatosis type 1, in our outpatient consultation; we objectified hypereosinophilia at 1700 eosinophils/μl without a history of asthma or atopy. He reported a nasal obstruction with epistaxis and no rhinorrhea or pruritus. Physical examination revealed afebrile patient with the lesions of his neurofibromatosis type 1 without cutaneous rash or urticaria. Rhinoscopy didn't show any lesion. Laboratory tests revealed a normal renal function, negative 24-hour urine protein, and no biological inflammatory syndrome. Immunological tests noted positives cytoplasmic antineutrophil cytoplasmic antibodies, and a slight increase in antinuclear antibodies at 1/180. Extensive infectious research was negative. Computed tomography (CT) of the sinuses revealed a non-obstructive nasal septum deviation with anatomical variations, and a chest scan showed multiple bilateral pulmonary nodules and micronodules. After ruling out the other etiologies, we retained the diagnosis of granulomatosis with polyangiitis according to American College of Rheumatology (ACR) criteria 1990 and we could start early the treatment. To our knowledge, the association between Neurofibromatosis type 1 and vasculitis, particularly GPA, has not been reported previously, which makes our case original and confirms the utility of an extensive lesion assessment during the follow-up.
Whole Abdominal-Pelvic Radiotherapy in the Management of Primary Ewing Sarcoma of the Peritoneal Cavity
Authors: Osmar Barbosa Neto, Aurelie Garant, Shakir Shakir, Josee Brossard, Perrine Garde-Granger, Carolyn Freeman
Journal: Cureus (2016)
Keywords: ewing sarcoma, extraskeletal ewing sarcoma, pediatric
MeSH terms: Case Reports

Ewing sarcoma of the abdomen is a rare entity in pediatric oncology and represents a technical challenge both for surgeons and radiation oncologists. We document the case of a young female patient with primary disseminated, intraperitoneal Ewing sarcoma who after an excellent response to chemotherapy received preoperative whole abdominal-pelvic radiotherapy with good tolerance.
Bilateral anterior ischemic optic neuropathy in patients on dialysis: A report of two cases
Authors: J Nieto, M A Zapata
Journal: Indian J Nephrol (2010)
Keywords: anterior ischemic optic neuropathy, bilateral anterior ischemic optic neuropathy, visual loss in dialysis, visual loss in uremia
MeSH terms: Case Reports

Patients under chronic dialysis treatment suffer from atherosclerotic disease and anemia more frequently than the normal population. This, together with the frequent hypotension, put these patients at increased risk for anterior ischemic optic neuropathy (AION), which may be bilateral and blinding. We present two cases of patients under chronic dialysis who developed bilateral AION after hypotensive events. Bilateral involvement is not unusual in renal replacement patients who suffer from AION. Efforts should be focused on prevention of this complication by improving anemia and blood pressure control because once established, treatment will probably be ineffective.
A Rare Case of Proximal Junctional Failure with Delayed Infection after Adult Spinal Deformity Surgery: A Report of Two Cases
Authors: Takuro Iwami, Mitsuru Yagi, Eijiro Okada, Satoshi Suzuki, Satoshi Nori, Osahiko Tsuji, Narihito Nagoshi, Kota Watanabe, Nobuyuki Fujita, Masaya Nakamura, Morio Matsumoto
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Proximal junctional failure (PJF) is one of the most devastating complications that develop after adult spinal deformity (ASD) surgery. Here, we report 2 rare cases of PJF accompanied by delayed infection after ASD surgery with a review of the relevant literatures. Late-onset infection is an infrequent complication despite acute postoperative infection is common after posterior spinal instrumentation and fusion. Among them, delayed onset pyogenic spondylitis of the adjacent vertebra to the instrumented vertebrae is an extremely rare phenomenon. We do not have a clear explanation for this pathology. Since the delayed infections developed not in the fused segments but in the adjacent vertebra, the cause of the first case can be speculated as stimulation of low-virulent organisms to fester and hematogenous seeding and that of the second case as metal fretting and a sterile inflammatory response causing hematogenous microbial seeding, respectively. Additional studies on this phenomenon are warranted to elucidate the pathogenesis of this complication.
A Rare Case of Posttraumatic Bilateral BPPV Presentation
Authors: Sinisa Maslovara, Andro Kosec, Ivana Pajic Matic, Anamarija Sestak
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

A rare case of a 38-year-old female patient who developed benign paroxysmal positional vertigo (BPPV) three weeks after head trauma is presented. The disease manifested bilaterally, which is not uncommon posttraumatically, but in this case, it manifested itself as canalithiasis of the posterior canal on both sides and cupulolithiasis of the right lateral canal, which to our knowledge is a unique and, until now, unpublished case. The aim of this review is to point out the fact that, in such a complex multicanal and bilateral clinical presentation of BPPV, it is not sufficient to perform only positioning but also additional laboratory tests. With a good knowledge of the etiopathogenesis, pathophysiology and clinical forms of BPPV, we can, in most cases, make an accurate and precise diagnosis of the disease and carry out appropriate treatment.
Detrusor Arreflexia as an End Stage of Neurogenic Bladder in HAM/TSP?
Authors: Matheus Tannus, Davi Tanajura, Michael A Sundberg, Paulo Oliveira, Neviton Castro, André Muniz Santos
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The HTLV-1 virus is a known agent involved in the development of HAM/TSP. Past studies have typically observed patients with autonomic dysfunction consisting of detrusor overactivity and detrusor-sphincter dyssynergia, with the occasional observation of underactive detrusor or detrusor arreflexia. However, studies have not yet evaluated the progression of neurogenic bladder over time. In this paper, we describe a HAM/TSP patient with the initial development of overactive detrusor, and subsequent development of detrusor arreflexia. Given a paucity of studies characterizing the effects of HTLV-1 on the autonomic nervous system, particularly aspects controlling continence, this patient's clinical course may represent one type of end point for patients with HAM/TSP and neurogenic bladder. Further cohort or case-series studies, with particular emphasis on the progression of neurogenic bladder, are needed to evaluate the significance of this described case in relation to typical disease progression patterns.
Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients
Authors: Snehal Shabrish, Madhura Kelkar, Niranjan Chavan, Mukesh Desai, Umair Bargir, Maya Gupta, Priti Mehta, Akanksha Chichra, Chandrakala S, Prasad Taur, Vinay Saxena, Babu Rao Vundinti, Manisha Madkaikar
Journal: Front Immunol (2019)
Keywords: familial hemophagocytic lymphohistiocytosis (fhl), fanconi anemia, hlh-targeted therapy, nk cell cytotoxicity, nk cell degranulation defect
MeSH terms: Cell Degranulation / immunology, Fanconi Anemia / immunology, Killer Cells, Natural / immunology, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Child, Preschool, Fanconi Anemia / pathology, Female, Humans, Inflammation / immunology, Inflammation / pathology, Killer Cells, Natural / pathology, Male

Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, short stature, and increased cancer risk. BMF in FA is multifactorial and largely results from the death of hematopoietic stem cells due to genomic instability. Also, inflammatory pathology in FA has been previously reported, however the mechanism is still not clear. In literature, decreased NK-cell count and/or impaired NK-cell activity, along with other immunological abnormalities have been described in FA-patients (1). However, to the best of our knowledge, this is the first report showing a defective degranulation mechanism leading to abnormal NK-cell cytotoxicity in FA-patients, which may explain the development of a hyperinflammatory response in these patients. This may predispose some patients to develop Hemophagocytic lymphohistiocytosis (HLH) which manifests with prolonged fever, progressive cytopenias and organomegaly. Early diagnosis and initiation of immunosuppressive therapy in these patients will help to better manage these patients. We also propose FA genes to be listed as a cause of familial HLH.
Suspected Regional Lymph Node Metastasis in Hepatic Alveolar Echinococcosis: A Case Report
Authors: Qiang Wang, Yu Cui, Li Ren, Haijiu Wang, Zhixin Wang, Hu Wang, Haining Fan
Journal: Iran J Parasitol (2020)
Keywords: china, hepatic alveolar echinococcosis, regional lymph node metastasis
MeSH terms: Case Reports

There is no direct evidence to support the existence of regional lymph node metastatic routes in hepatic alveolar echinococcosis, and only a few literature have been reported. There was a case of hepatic alveolar echinococcosis suspected of metastasis of regional lymph node in Clinical Center for Hydatidosis, Qinghai Province, China. The patient was a 24-yr-old male from pastoral area of Seda County, Sichuan Province, China in 2018. He was admitted to the hospital for physical examination and had no special discomfort. Preoperative examination showed liver occupancy and regional lymph node enlargement in the space between liver and stomach. Hepatectomy and lymph node resections were performed. Postoperative pathological results showed that both primary and metastatic lesion were of alveolar echinococcosis. Recovery of patient was good without complications and recurrence. In this case, metastasis was considered because the liver lesion was not directly connected to the lymph node. However, the case was still suspected due to the lack of pathological examination of other lymph nodes in the lymphatic return pathway. Regional lymph node metastasis may be one of the metastatic ways of alveolar echinococcosis.