OpenMed/multicare-articles huggingface dataset:
Epstein-Barr Virus-Associated T-Cell Lymphoproliferative Disorder Presenting as Chronic Diarrhea and Intestinal Bleeding: A Case Report
Authors: Yaxin Wang, Yajun Li, Xiangwei Meng, Xiumei Duan, Meilan Wang, Wenqing Chen, Tongyu Tang, Yuqin Li
Journal: Front Immunol (2018)
Keywords: epstein-barr virus infection, t-cell lymphoproliferative disease, clinical features, differential diagnosis, endoscopic features
MeSH terms: Epstein-Barr Virus Infections / diagnosis, Inflammatory Bowel Diseases / diagnosis, Intestines / pathology, Lymphoproliferative Disorders / diagnosis, T-Lymphocytes / immunology, Case Reports, Research Support, Non-U.S. Gov't, Cell Proliferation, Chronic Disease, Colectomy, Cytotoxicity, Immunologic, Diagnosis, Differential, Diarrhea, Fatal Outcome, Female, Hemorrhage, Herpesvirus 4, Human / physiology, Humans, Lymphocyte Activation, Middle Aged

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease (EBV+ T-LPD) is extremely rare. Primary acute or chronic active Epstein-Barr virus infection triggers EBV+ T-LPD's onset and the disease involves clonal proliferation of infected T-cells with activated cytotoxic phenotype. The adult-onset EBV+ T-LPD (ASEBV+ T-LPD) is even rarer and needs to be extensively studied. Further, according to literature review, it is a challenge to find patients who are immunocompetent and diagnosed with ASEBV+ T-LPD involving gastrointestinal tract. This case report discusses a previously healthy middle aged woman who presented with unique symptoms mimicking inflammatory bowel disease, and required a total colectomy and terminal ileum rectomy, as reveled by endoscopic examinations, due to severe gastrointestinal bleeding. Post-surgery histopathological findings were confirmatory for the diagnosis of ASEBV+ T-LPD (II: Borderline). This patient died 7 months after the diagnosis.
Synchronous adenocarcinoma and mucosa-associated lymphoid tissue lymphoma of the colon
Authors: Padmalaya Devi, Lucy Pattanayak, Sagarika Samantaray
Journal: Saudi J Gastroenterol (2011)
MeSH terms: Adenocarcinoma / pathology, Colonic Neoplasms / pathology, Lymphoma, B-Cell, Marginal Zone / pathology, Neoplasms, Multiple Primary / pathology, Case Reports, Adenocarcinoma / therapy, Aged, Colectomy, Colonic Neoplasms / therapy, Female, Humans, Lymphoma, B-Cell, Marginal Zone / therapy, Neoplasms, Multiple Primary / therapy

Mucosa-associated lymphoid tissue (MALT) tumors are a distinct subtype of non-Hodgkin's lymphoma. Synchronous appearance of adenocarcinoma and colonic MALT lymphoma in the same patient is quite rare. In the present report, we describe a 68-year-old female who presented with a history of bleeding per rectum. She had no history of fever, loss of weight or drenching night sweats. Rectal examination revealed no abnormality. Colonoscopy showed a large ulceroproliferative mass arising from the hepatic flexure, biopsy of which came out to be adenocarcinoma of colon. A right hemicolectomy was performed and microscopic study revealed the tumor type to be synchronous adenocarcinoma with lymphoma. The final diagnosis of this patient turned out to be a synchronous manifestation of both colonic adenocarcinoma and colonic MALT lymphoma. Although the patient remains asymptomatic two years after surgery, the case highlights the therapeutic dilemma that prevails in the definitive management in such scenarios.
Vitrectomy using 0.025% povidone-iodine irrigation for treating post-traumatic endophthalmitis due to intraocular foreign bodies: Two case reports
Authors: Chi Liu, Ke Xu, Ying Hu, Xiaotong Zhuang, Bo Fu, Lin Wang, Xinzhu Jia, Li Xu
Journal: Front Surg (2023)
Keywords: 0025% povidone-iodine, balanced salt solution plus, case report, foreign body (fb), traumatic endophthalmitis
MeSH terms: Case Reports

Traumatic eye injury-related endophthalmitis is a serious traumatic complication that threatens the vision of many patients worldwide. Herein, we present two cases of traumatic endophthalmitis that underwent 0.025% povidone-iodine treatment and hoped to introduce the bactericidal effect of 0.025% povidone-iodine in balanced salt solution PLUS (0.025% PI-BSS PLUS) and its use in vitrectomy for traumatic endophthalmitis. The 0.025% PI-BSS PLUS solution is bactericidal and nontoxic when used as an irrigation solution in pars plana vitrectomy. The two cases of traumatic endophthalmitis were resolved by pars plana vitrectomy using 0.025% PI-BSS PLUS.
Gastrointestinal stromal tumour of the rectum: a report of two cases
Authors: Tarik Chekrine, Hassan Jouhadi, Zineb Bouchbika, Nadia Benchakroun, Nezha Tawfiq, Souha Sahraoui, Abdelatif Benider
Journal: Pan Afr Med J (2012)
Keywords: rectum, diagnosis, gastrointestinal stromal tumour, treatment
MeSH terms: Gastrointestinal Stromal Tumors / diagnosis, Rectal Neoplasms / diagnosis, Case Reports, Aged, Female, Humans, Male

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract in adults, although rectal localisation of these tumours is very rare. We report here two cases of rectal stromal tumours in a 77-year-old woman and a 65-year-old man, confirmed by histology and immunohistochemistry. Surgery for rectal GIST patients is the standard treatment and adjuvant imatinib, a tyrosine kinase inhibitor, is indicated for GISTs with a high risk of malignancy, as well as in the case of metastatic or unresectable tumours.
Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification
Authors: Yuqi Shen, Shi Shu, Yaqiong Ren, Weibo Xia, Jianhua Chen, Liling Dong, Haijun Ge, Shiqi Fan, Lei Shi, Bin Peng, Xue Zhang
Journal: Front Genet (2021)
Keywords: pdgfb, pfbc, slc20a2, mutation, primary familial brain calcification
MeSH terms: Case Reports

Primary familial brain calcification (PFBC, OMIM#213600), also known as Fahr's disease, is characterized by bilateral and symmetric brain calcification in the basal ganglia (globus pallidus, caudate nucleus, and putamen), thalamus, subcortical white matter, and cerebellum. PFBC can be caused by loss-of-function mutations in any of the six known causative genes. The most common clinical manifestations include movement disorders, cognitive impairment, and neuropsychiatric signs that gradually emerge in middle-aged patients. To broaden the PFBC mutation spectrum, we examined nine members of a family with PFBC and two sporadic cases from clinical departments, and sequenced all PFBC-causative genes in the index case. Two novel frameshift mutations in SLC20A2 [NM_001257180.2; c.806delC, p.(Pro269Glnfs*49) and c.1154delG, p.(Ser385Ilefs*70)] and one novel splice donor site mutation (NM_002608.4, c.456+1G>C, r.436_456del) in PDGFB were identified in the patient cohort. c.806delC co-segregated with brain calcification and led to SLC20A2 haploinsufficiency among the affected family members. The c.456+1G>C mutation in PDGFB resulted in aberrant mRNA splicing, thereby forming mature transcripts containing an in-frame 21 base pair (bp) deletion, which might create a stably truncated protein [p.(Val146_Gln152del)] and exert a dominant negative effect on wild-type PDGFB. All three mutations were located in highly conserved regions among multiple species and predicted to be pathogenic, as evaluated by at least eight common genetic variation scoring systems. This study identified three novel mutations in SLC20A2 and PDGFB, which broadened and enriched the PFBC mutation spectrum.
Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
Authors: Elisa Brandigi, Francesco Molinaro, Anna Lavinia Bulotta, Rossella Angotti, Maria Pavone, Mario Messina
Journal: Ital J Pediatr (2013)
MeSH terms: Abnormalities, Multiple / genetics, Chromosome Disorders / genetics, Chromosome Duplication / genetics, Chromosomes, Human, Pair 1 / genetics, Chromosomes, Human, Pair 18 / genetics, Vesico-Ureteral Reflux / genetics, Case Reports, Review, Child, Chromosome Deletion, Chromosome Disorders / diagnosis, Clubfoot / genetics, Face / abnormalities, Female, Hernia, Umbilical / genetics, Humans, Intellectual Disability / genetics, Karyotyping, Single Umbilical Artery / genetics, Treatment Outcome, Ultrasonography, Prenatal, Vesico-Ureteral Reflux / diagnosis, Vesico-Ureteral Reflux / surgery, Chromosome 18 deletion syndrome

Background:
Vesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).
Case report:
The patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.
Conclusions:
This is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.
Case Report: A Rare Complication Following Catheter Ablation of Scar-Related Ventricular Tachycardia
Authors: Xiaoyong Xu, Ming Ye, Yaxun Sun, Qiang Liu, Fusheng Ma, Chenyang Jiang
Journal: Front Cardiovasc Med (2021)
Keywords: catheter ablation, complication, homologous ventricular separation, substrate modification, ventricular tachycardia
MeSH terms: Case Reports

Background: The substrate for ventricular tachycardia (VT) in patients with structural heart disease is usually complex and often requires extensive ablation. As a result, the incidence of major procedure-related complications has been reported to be higher when compared to patients without structural heart disease. In this study, we present a rare complication after extensive substrate modification of scar-related VT. Case: A 65-year-old man with ischemic cardiomyopathy was referred to the electrophysiology laboratory for radiofrequency ablation of VT following repetitive implantable cardioverter defibrillator shocks within a short period. As with hemodynamic intolerance of induced VT, an approach involving extensive endocardial substrate modification to reduce the arrhythmogenicity of the scars was adopted. After the procedure, the heart function of the patient deteriorated significantly. The postprocedural ECG showed a bizarre, extremely wide surface QRS complex (360 ms), termed as homologous ventricular separation. The pronounced dyssynchrony of the ventricle was corrected by an upgrade to cardiac resynchronization therapy with defibrillation (CRT-D). As a result, the symptoms of the patient improved significantly. The width of the intrinsic QRS complex was not recovered during an 18-month follow-up. Conclusion: Homologous ventricular separation is a rare arrhythmia, manifested as two separated QRS waves. This case report demonstrates, for the first time, that homologous ventricular separation may occur after extensive substrate modification of scar-related VT. CRT-D can correct the dyssynchronous ventricle caused by homologous ventricular separation.
Plasmapheresis, Rituximab, and Ceftriaxone Provided Lasting Improvement for a 27-Year-Old Adult Male with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS)
Authors: Adam Krouse, Huihua Li, Joseph A Krenzer, William Nicholas Rose
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a specific autoimmune response to group-A streptococcal (GAS) infections in children and adolescents with a sudden onset of neuropsychiatric disorders including obsessive-compulsive disorder (OCD) or tic-like symptoms. We present a case report of a 27-year-old male patient who had lasting improvement with plasmapheresis, rituximab, and ceftriaxone. Our patient first developed sudden psychosis and confusion after GAS infections at age 17. He had elevated anti-streptolysin O (ASO) titers, negative urine drug screen, no ETOH in blood, normal CBC, normal TSH, normal salicylate, normal acetaminophen, and a normal head CT. The tentative diagnosis of PANDAS was made, and the patient was thereafter treated with antipsychotics, antibiotics, tonsillectomy, and IVIG which resulted in remissions and relapses of his neuropsychiatric symptoms. Once he reached age 27, he received a trial of therapeutic plasma exchange (TPE), rituximab, and ceftriaxone. This eventually resulted in sustained benefit and minimal fluctuations of his clinical symptoms. Our report is noteworthy in three ways.One, he is a 27-year-old adult with PANDAS.Two, he improved after TPE, rituximab, and ceftriaxone. Our literature search yielded minimal data on the use of plasmapheresis for nonteenage adults with PANDAS. Three, he had unusual symptoms of PANDAS, as the typical OCD and/or tic-like symptoms were not observed.
Colovaginoplasty in a case of mayer-rokitansky-kuster-hauser syndrome
Authors: Muhammad Saleem, Muhammad Zafar Iqbal, Mazher Rafee Jam, Mushtaq Ahmad, Bilal Mirza
Journal: APSP J Case Rep (2014)
Keywords: colovaginoplasty, mayer-rokitansky-kuster-hauser syndrome, vaginal agenesis
MeSH terms: Case Reports

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) is characterized by various abnormalities of paramesonephric duct structures; vaginal aplasia being the commonest anomaly in the spectrum. We report a 17-year-old girl; a case of MRKHS with vaginal agenesis. The cervix was present but atretic; uterus, fallopian tubes and ovaries were normal. There were no associated renal or skeletal defects. Colovaginoplasty was done to bridge the gap between uterus and introitus. Postoperatively, small part of colovaginoplasty flap became necrotic posteriorly, which was ultimately managed by insetting of labial flap.
Creutzfeldt-Jakob disease in a post-COVID-19 patient: did SARS-CoV-2 accelerate the neurodegeneration?
Authors: Taha K Alloush, Adel T Alloush, Yaser Abdelazeem, Hossam M Shokri, Khaled O Abdulghani, Ahmed Elzoghby
Journal: Egypt J Neurol Psychiatr Neurosurg (2023)
Keywords: covid-19, neurodegenerative disorder, pet/mri brain, sars-cov-2, sporadic creutzfeldt–jakob disease (scjd)
MeSH terms: Case Reports

Background:
Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder, with few months as a usual duration from onset to death.
Case presentation:
In this case report, a patient of Sporadic CJD (sCJD) who presented one month after severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. The diagnosis of this case was established after confirming findings from clinical, neurophysiology, radiological, and laboratory features of this disease.
Conclusion:
Putting in mind all the updated data on the pathogenesis of CJD and the immune responses to SARS-CoV-2, we can suggest that COVID-19 can lead to accelerated pathogenesis and exaggerated manifestations of this fatal neurodegenerative disease.
Streptococcus intermedius Causing Necrotizing Pneumonia in an Immune Competent Female: A Case Report and Literature Review
Authors: Faris Hannoodi, Israa Ali, Hussam Sabbagh, Sarwan Kumar
Journal: Case Rep Pulmonol (2016)

We report a case of a 52-year-old immunocompetent Caucasian female treated for necrotizing Streptococcus intermedius pneumonia and review available literature of similar cases. Our patient presented with respiratory failure and required hospitalization and treatment in the intensive care unit. Moreover, she required surgical drainage of right lung empyema as well as decortication and resection. The review of literature revealed three cases of S. intermedius pneumonia, one of which was a mortality. Comparison of the published cases showed a highly varied prehospital course and radiological presentations, with a symptomatic phase ranging from 10 days to five months. Radiological findings varied from an isolated pleural effusion to systemic disease with the presence of brain abscesses. Immunocompetence appears to correlate well with the overall prognosis. In addition, smoking appears to be an important risk factor for S. intermedius pneumonia. In 2 (50%) of cases, pleural fluid analysis identified S. intermedius. In contrast, no organism was found in our patient, necessitating the acquisition of lung tissue sample for the diagnosis. In conclusion, both medical and surgical management are necessary for effective treatment of S. intermedius pneumonia. The outcome of treatment is good in immunocompetent individuals.
Case report: Treatment of anterior cerebral artery aneurysms with combined remodeling technique and flow diverter deployment through a dual lumen balloon catheter
Authors: Leonardo Renieri, Francesco Capasso, Sergio Nappini, Antonio Laiso, Carolina Capirossi, Nicola Limbucci
Journal: Front Neurol (2022)
Keywords: difficult aneurysms, distal aneurysms, endovascular treatment (evt), flow diverter (fd), remodeling technique
MeSH terms: Case Reports

We present the technical aspects of embolization for two unruptured medium-sized aneurysms of the anterior cerebral artery treated with balloon-remodeling technique and loose coiling of the sac with the final deployment of a 0. 017-compatible flow diverter. Both procedures were performed with dual antiplatelet therapy premedication and under general anesthesia. The anatomy of the two aneurysms was similar with a wide neck and the presence of a collateral artery branching off it, which required the additional use of a compliant balloon in order to retain patency and avoid coil protrusion. After initial coiling, a nitinol flow-diverter was deployed through a coaxial dual lumen balloon microcatheter. Both these interventions encountered no complications, and the patient was discharged on day 2. At 6-month clinical and radiological follow-up, neither patient had neurological deficits, the aneurysms were both completely occluded, nor the stented arteries were patent along with their collateral branches.
Parathyroid Apoplexy Following Cinacalcet Treatment in Primary Hyperparathyroidism
Authors: Giulia Di Dalmazi, Cesidio Giuliani, Giorgio Napolitano
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: cinacalcet, hungry bone syndrome, hypocalcemia, parathyroid apoplexy, primary hyperparathyroidism
MeSH terms: Case Reports

Cinacalcet, a calcimimetic drug, is considered a safe and valid option for the treatment of hypercalcemia in patients with primary hyperparathyroidism who are unable to undergo parathyroidectomy. Hypocalcemia and gastrointestinal adverse reactions are the main side effects reported in patients treated with cinacalcet. We present here the case of an 80-years-old patient with primary hyperparathyroidism treated with cinacalcet for 17 months who developed a severe and symptomatic episode of hypocalcemia requiring hospitalization 1 month after reaching a daily dose of 180 mg. Follow-up laboratory and imaging exams showed remission of primary hyperparathyroidism and disappearance of the parathyroid adenoma, suggesting a possible association between cinacalcet therapy and parathyroid infarction resulting in normalization of the elevated serum parathyroid hormone levels and severe hypocalcemia. No known cases of iatrogenic parathyroid apoplexy have thus far been described. We report here the first case of parathyroid apoplexy associated with the administration of cinacalcet in a patient with primary hyperparathyroidism. Parathyroid apoplexy features heterogeneous clinical manifestations ranging from relatively asymptomatic to potentially life-threatening cases. The occurrence of this complication should be carefully considered in patients with primary hyperparathyroidism in therapy with cinacalcet.
Voluminous Intrapericardial Lipoma Mimicking Pericardial Effusion
Authors: Fabíola Prado de Morais, Noah Romero Nakajima, Olívia Félix Marconi Andalécio, Pedro de Santana Prudente, Guilherme Emílio Ferreira, Andrea de Martino Luppi, Fernando Costa Mundim, Olga Maria Lima Aguiar, Juliana Salomão Daud Melo, Bruno de Carvalho Dornelas
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Lipomas are rare primary heart tumors and may involve the endocardium, myocardium, or pericardium. Signs and symptoms depend on the tumor location and size. The intrapericardial lipoma we report has massive dimensions and mimics a pericardial effusion. A 38-year-old male complained of dyspnea and precordial pain. On physical examination, heart sounds were diminished. The patient had received extensive medication for a clinically suspected pericardial effusion due to heart failure. A voluminous mass resembling fat within the pericardial sac was revealed by transesophageal echocardiography and a computed tomography scan. The tumor was removed successfully by a subxiphoid surgical approach. The diagnosis of a 635 gram intrapericardial lipoma was confirmed by pathological examination. After surgery, the patient recovered well and was completely asymptomatic at a follow-up at 90 days. No medications were being taken since. The diagnosis of a pericardial effusion should be secured by imaging exams to avoid unnecessary medications. Cardiac lipomas can be readily recognized by their typical features on radiologic imaging. The surgical pathology examination confirms the diagnosis and rules out malignancy criteria.