OpenMed/multicare-articles huggingface dataset:
Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt-Jakob Disease With the V180I Mutation
Authors: Ryuichi Koizumi, Naohisa Ueda, Atsushi Mugita, Katsuo Kimura, Hitaru Kishida, Fumiaki Tanaka
Journal: Front Neurol (2021)
Keywords: creutzfeldt–jakob disease, v180i mutation, diffusion-weighted image, early diagnostic marker, magnetic resonance imaging
MeSH terms: Case Reports

The diagnosis of presymptomatic Creutzfeldt-Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrPres) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis. Presymptomatic CJD is currently impossible to diagnose because of the lack of established early diagnostic markers. However, since MRI is increasingly used in daily clinical practice, the chance detection of such DWI abnormalities would have important implications in terms of providing a clue to examine a highly specific early diagnostic marker to be developed in the future for CJD. This will allow presymptomatic intervention by disease-modifying therapy in the near future.
Lethal Clostridium difficile Colitis Associated with Paclitaxel and Carboplatin Chemotherapy in Ovarian Carcinoma: Case Report and Review of the Literature
Authors: V Masciullo, S Mainenti, D Lorusso, P A Margariti, G Scambia
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

Clostridium difficile colitis, although rare, could represent a serious complication following chemotherapy. Prior antibiotic use has been considered the single most important risk factor in the development of C. difficile infection. Recently, the association between antineoplastic therapy and C. difficile-associated diarrhea in the absence of a prior antibiotic therapy has become more apparent. A 75-year-old woman with serous adenocarcinoma of the ovary developed lethal pancolitis caused by C. difficile after five cycles of paclitaxel- and carboplatin-based chemotherapy. She presented with diarrhea, coffee-ground emesis, and oliguria and was hospitalized immediately for aggressive treatment. Despite all the medical efforts, her condition worsened and she died after twenty days. We describe the second case reported of a patient developing a severe C. difficile colitis following chemotherapy without any recent antibiotic use and review the data of the literature, emphasizing the need to a prompt diagnosis and management that can significantly decrease the morbidity and life-threatening complications associated with this infection.
Highly Symptomatic Progressing Cardiac Paraganglioma With Intracardiac Extension Treated With 177Lu-DOTATATE: A Case Report
Authors: Alexis Huot Daneault, Mélanie Desaulniers, Jean-Mathieu Beauregard, Alexis Beaulieu, Frédéric Arsenault, Geneviève April, Éric Turcotte, François-Alexandre Buteau
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: 177lu-dotatate, prrt, dosimetry, metastatic cardiac paraganglioma, personalized activity
MeSH terms: Heart Neoplasms / radiotherapy, Octreotide / analogs & derivatives, Organometallic Compounds / therapeutic use, Paraganglioma / radiotherapy, Radiopharmaceuticals / therapeutic use, Case Reports, Heart Neoplasms / pathology, Heart Neoplasms / surgery, Humans, Male, Middle Aged, Octreotide / therapeutic use, Paraganglioma / pathology, Paraganglioma / surgery, Prognosis, Organometallic Compounds, Radiopharmaceuticals, lutetium Lu 177 dotatate, Octreotide

Introduction:
Primary cardiac paragangliomas are rare tumors. Metastatic disease is even rarer. Surgical management is technically challenging, and sometimes even impossible. Available therapeutic modalities for metastatic disease include external beam radiation therapy as well as systemic treatments, namely 131I-MIBG and more recently, peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE. To our knowledge, this is the first case of progressive unresectable cardiac paraganglioma with intracardiac extension treated with dosimetry based personalized PRRT to be reported. This case is of particular interest since it documents for the first time the efficacy, and especially the safety of the 177Lu-DOTATATE PRRT in this precarious context for which therapeutic options are limited.
Case presentation:
A 47-year-old man with no medical history consulted for rapidly decreasing exercise tolerance. The investigation demonstrated an unresectable progressing metastatic cardiac paraganglioma with intracardiac extension. The patient was treated with personalized 177Lu-DOTATATE PRRT and showed complete symptomatic and partial anatomical responses, with a progression-free survival of 13 months.
Conclusions:
PRRT with 177Lu-DOTATATE should be considered for inoperable cardiac paraganglioma. No major hemodynamic complications were experienced. Therapy resulted in safety and substantially improved quality of life.
Novel therapies delay the progression of smoldering multiple myeloma: Case report and discussion
Authors: A Jhaveri, F Muggia
Journal: Ecancermedicalscience (2010)

This clinical vignette illustrates how our therapeutic approaches to early stages of multiple myeloma have changed over the past decade with novel therapies reducing disease and preventing disease progression. Recent paradigms of multiple myeloma describe the disease as a spectrum of clinical stages, including asymptomatic 'smoldering' states that progress to symptomatic states. The average 5-year survival rate of patients with multiple myeloma diagnosed between 1996 and 2004 according to surveillance epidemiology and end results (SEER) data is 35.9%. Here, we describe the use of novel therapeutic agents including bortezomib, lenalidomide, bisphosphonates, Doxil/Caelyx, and dexamethasone, and their success in affecting the course of disease. Multiple trials have shown an increased benefit of these newer agents over prior multiple myeloma treatment regimens. At 13 years and 8 months from diagnosis, our patient is doing well, and thus is a model of how long-term control of multiple myeloma prolongs survival.
Late recurrent urothelial carcinoma in the Studer neobladder: conversion to continent reservoir
Authors: Af Kotb, M Alkosiry, N Abdelkawy, Ma Atta
Journal: Ecancermedicalscience (2012)
Keywords: late recurrence, neobladder, radical cystectomy
MeSH terms: Case Reports

Bladder cancer represents a considerable issue in Egypt and the Middle East. Radical cystectomy and orthotopic neobladder represent the standard of care for managing cases with invasive bladder tumour. There are few cases reported in the literature considering the urothelial recurrence in the urethra, connected to neobladder. We are presenting a rare case of a young female patient, with an aggressive urothelial tumour, recurring 13-year post-radical cystectomy, and the Studer neobladder. Our case was managed by urethrectomy and conversion of the neobladder into continent reservoir, with good short-term oncological and functional outcomes. We can conclude that bladder cancer cases should be followed thoroughly throughout their life. Follow-up urethroscopy and cytology should be done for all cases of post-radical cystectomy, regardless of patients' symptoms.
Key message:
Late urothelial recurrence of post-radical cystectomy is possible and, in our case, happened 13 years following surgery. The Studer neobladder can be safely converted into continent reservoir, allowing good functional outcomes. Also, recurrence in the Studer neobladder can be safely managed, allowing good oncological outcomes, without the need for any ureteroileal interventions.
Mucormycosis in patients with inflammatory bowel disease: case series and review of the literature
Authors: Maheen Z Abidi, Nayantara Coelho-Prabhu, James Hargreaves, Tim Weiland, Irminne Van Dyken, Aaron Tande, Pritish K Tosh, Randall C Walker, Nathan W Cummins
Journal: Case Rep Med (2014)

Mucormycosis is a rare and often fatal invasive fungal infection mostly seen in immune-compromised individuals. A high index of clinical suspicion is necessary, so that effective preemptive therapy can be started, as timely intervention is crucial. In this series we present three cases of invasive mucormycosis in patients with underlying inflammatory bowel disease that had received therapy with immunomodulators prior to the infection. All three had varied clinical manifestations. We also review the literature of invasive mucormycosis in patients with inflammatory bowel disease.
Therapeutic Approach to the Management of Severe Asymptomatic Hyponatremia
Authors: Thaofiq Ijaiya, Sandhya Manohar, Kameswari Lakshmi
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Hyponatremia is an electrolyte imbalance encountered commonly in the hospital and ambulatory settings. It can be seen in isolation or present as a complication of other medical conditions. It is therefore a challenge to determine the appropriate therapeutic intervention. An understanding of the etiology is key in instituting the right treatment. Clinicians must not be too hasty to correct a random laboratory value without first understanding the physiologic principle. We present such a case of a patient who presented with sodium of 98 mmol/L, the lowest recorded in the current literature, and yet was asymptomatic. Following appropriate management driven by an understanding of the underlying pathophysiologic mechanism, the patient was managed to full recovery without any clinically significant neurological sequelae.
Cystosarcoma phyllodes of the seminal vesicle: a case report and literature review
Authors: Lucio Olivetti, Francesco Laffranchi, Vincenzo De Luca
Journal: Case Rep Urol (2014)

Cystosarcoma of the seminal vesicle is a very rare malignant tumor; in the literature only four cases are reported. We present a case of cystosarcoma phyllodes arising in the right seminal vesicle of a 49-year-old man without any urinary symptom but with persistent constipation. Ultrasound examination showed a mass at the right superior base of the prostate subsequently studied with CT and MRI. The patient underwent vesiculectomy; his postoperative course was uneventful. The patient is still well, without evidence of recurrent disease.
Metastatic Prostate Cancer Manifesting as Cholestatic Jaundice: A Case Report and Review of the Literature
Authors: Deepak Ravindranathan, Emilie Elise Hitron, Greta Anne Russler, Yue Xue, Mehmet Asim Bilen
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

A paraneoplastic syndrome can often present as the first manifestation of an underlying malignancy. We report a patient who presented with cholestatic jaundice as a paraneoplastic syndrome from his newly diagnosed metastatic prostate cancer. He received initial treatment with androgen deprivation therapy followed by six cycles of docetaxel resulting in resolution of his cholestatic process, normalization of liver enzyme levels, and excellent biochemical and radiographic response. To the best of our knowledge, this is the first reported case of metastatic prostate cancer with cholestatic jaundice as a paraneoplastic phenomenon to be safely treated with androgen deprivation therapy and upfront docetaxel, reflecting the latest shift in the treatment of metastatic prostate cancer.
Treatment of hypocalcemia in hungry bone syndrome: A case report
Authors: Farahnaz Anwar, Joseph Abraham, Ahmad Nakshabandi, Eugene Lee
Journal: Int J Surg Case Rep (2018)
Keywords: calcitriol, calcium gluconate/citrate, elemental calcium, hungry bone syndrome case report, hypocalcemia, parathyroid hormone, parathyroidectomy, primary/secondary hyperparathyroidism

Introduction:
Hungry bone syndrome (HBS) is rapid, intense and prolonged hypocalcemia that follows parathyroidectomy. The focus of this paper is HBS in patients with secondary hyperparathyroidism (SHPT) due to end stage renal disease (ESRD). Various risk factors are correlated with developing HBS post-parathyroidectomy due to SHPT which include: old age (>60 years); the preoperative level of parathyroid hormone (PTH); increased osteoclasts; and evidence of bone disease before surgery.
Presentation of case:
A 25-year-old woman, who underwent parathyroidectomy of all four parathyroid glands due to SHPT caused by ESRD. Her calcium deficit was prolonged, as expected in patients who undergo parathyroidectomy, however her calcium levels remained low despite unprecedented supplementation of elemental calcium and calcitriol.
Discussion:
Unfortunately, there is not enough data-based evidence to help prevent or minimize severe complications of hypocalcemia prior to parathyroidectomy. The main goal of treatment is replenishing the calcium deficiency through supplementation with calcium salts, high doses of active metabolites of vitamin D, and electrolytes.
Conclusion:
The ultimate goal of reviewing and analyzing this particular case is to obtain a better understanding for the treatment of Hungry bone syndrome. Although, there are very few cases as severe as this patient, hopefully this case study will result in greater insight and lead to improvement in the overall treatment of hypocalcemia.
Status Epilepticus Caused by an Herbicide Poisoning
Authors: Mohammed Sidayne, Adnane Lahlou, Saïd Benlamkaddem, Mohamed Adnane Berdai, Mustapha Harandou
Journal: Case Rep Emerg Med (2019)
MeSH terms: Case Reports

Triclopyr is a pyridine derivative, widely used as an herbicide. It controls plant growth by interfering with plant growth hormones, auxins. It should have few effects in humans as these are nonexistent in mammals. It can prove however very severe in cases of acute poisoning.
Pamidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinoma and acromegaly in McCune-Albright syndrome: a case report
Authors: Carl Friedrich Classen, Monika Mix, Ulrike Kyank, Christina Hauenstein, Dieter Haffner
Journal: J Med Case Rep (2012)

Introduction:
McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly.
Case presentation:
Here, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted.
Conclusion:
Treatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base.
Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility
Authors: Daniela Olivia Lopez-Rivera, Lina Maria Castano-Jaramillo, Marco Antonio Yamazaki-Nakashimada, Rosa María Nideshda Ramirez Uribe, Celso Tomás Corcuera Delgado, Karen R Ignorosa-Arellano, Edgar Alejandro Medina-Torres, Laura Berrón Ruiz, Sara Elva Espinosa-Padilla, Selma C Scheffler-Mendoza, Gabriel López-Velázquez, Mario Ernesto Cruz-Munoz, Saul O Lugo Reyes
Journal: Front Immunol (2022)
Keywords: ebv, epstein-barr virus, nfat5 nuclear factor of activated t cells 5, inborn errors of immunity, primary immune deficiency diseases, whole-exome sequence (wes)
MeSH terms: Epstein-Barr Virus Infections / complications, Epstein-Barr Virus Infections / genetics, Lymphohistiocytosis, Hemophagocytic, Case Reports, Review, Research Support, Non-U.S. Gov't, Adolescent, Child, Female, Haploinsufficiency, Herpesvirus 4, Human, Humans, Male, Transcription Factors / genetics, NFAT5 protein, human, Transcription Factors

Introduction:
The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.
Objective:
We aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology.
Methods:
After informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells.
Results:
We describe two cases of pediatric Mexican patients with rare heterozygous missense variants in NFAT5 and EBV susceptibility, a school-age girl with chronic-active infection of the liver and bowel, and a teenage boy who died of hemophagocytic lymphohistiocytosis.
Discussion:
NFAT5 is an important regulator of the immune response. NFAT5 haploinsufficiency has been described as an immunodeficiency syndrome affecting both innate and adaptive immunity. EBV susceptibility might be another manifestation in the spectrum of this disease.
Primary Peritonitis: An Index Case of Mycoplasma hominis Infection in a Healthy Female
Authors: Sabrina Drexel, Daniel Tseng
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
Primary peritonitis in healthy immunocompetent individuals is rare. Several case reports of Streptococcus species causing peritonitis have been described. Here, we present the first case of Mycoplasma hominis as the cause of primary peritonitis in a healthy woman.
Case report:
A 42-year-old female with history of uterine fibroids was admitted with abdominal pain and intraperitoneal fluid of unknown etiology. She was initially managed nonoperatively and empirically treated with broad spectrum antibiotics. Blood and urine cultures were unrevealing. Increasing abdominal pain and peritoneal fluid prompted diagnostic laparoscopy which revealed a dense fibrinous exudate covering the entire peritoneal cavity. Peritoneal fluid and biopsies were sent for cytology and culture. The peritoneal fluid was eventually sent for 16 s ribosomal analysis, which discovered Mycoplasma hominis RNA. Her antibiotics were narrowed, and she eventually made a full recovery.
Discussion:

M. hominis is a rare source of systemic infection but has been known to colonize the urogenital tract and cause localized infections. This is the first presentation of M. hominis causing primary peritonitis in a healthy immunocompetent female. Multidisciplinary management of these patients is critical to achieve a timely diagnosis. Surgical exploration is often unavoidable to rule out secondary peritonitis.
Lung Clear "Sugar" Cell Tumor and JAK V617F Positive Essential Thrombocythemia: a Simple Coincidence?
Authors: Volkan Yazak, Gokhan Sargin, Irfan Yavasoglu, Gurhan Kadikoylu, Canten Tataroglu, Gokay Bozkurt, Zahit Bolaman
Journal: Mediterr J Hematol Infect Dis (2013)
MeSH terms: Case Reports

The primary clear cell tumor of the lung is an extremely rare benign tumor. This tumor is called "sugar tumor" since clear cell tumor of the lung contains abundant glycogen. We here present a case of lung clear cell tumor of the lung associated to essential thrombocythemia. To the best of our knowledge, there is no report about this association. A 44-Year-Old Woman admitted to our clinic with a 2-month history of fatigue. On physical examination, the spleen was 3 cm palpable below the left costal margin on the mid axillary line. The laboratory tests revealed an elevated platelet counts (1,014,000/mm(3)). A pulmonary nodule (3,5 cm) was detected in the upper right lobe on the chest X-ray. Then, thoracic computed tomography (CT) was planned. The nodule looked like benign pattern on CT scan and total excision was performed for curative and diagnostic treatment. Microscopically, the tumor was composed of nests of rounded or oval cells with distinct cell borders, optically clear cytoplasm and small nucleus. By immunohistochemistry, tumor cells were positive for HMB-45, NSE and focal S100 antigen. And, it was diagnosed as clear "sugar" cell tumor. After tumor excision the lasting thrombocytosis induced us to perform bone marrow biopsy and JAK2 mutation research. Diagnosis of Essential Thrombocythemia was made. In conclusion, it is important to make an evaluation for myeloproliferative diseases in clear "sugar" cell tumor in adults if thrombocytosis was lasting after treatment.
Spontaneous Tumor Lysis Syndrome due to Uterine Leiomyosarcoma with Lung Metastases
Authors: Vivek Alaigh, Debapriya Datta
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Tumor lysis syndrome (TLS) is an oncologic emergency characterized by a combination of metabolic derangements (hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia) caused by rapid turnover from cell destruction in certain cancers. These metabolic derangements can lead to seizures, cardiac arrhythmias, renal failure, and death. TLS is usually seen after the initiation of chemotherapy for hematologic malignancies. TLS occurring spontaneously, without initiation of chemotherapy, is rare and its occurrence in solid tumors is rarer still. We report a case of spontaneous TLS in a patient with leiomyosarcoma of the uterus, with metastasis to lung. Such a case has never been reported before.
Ecosystems of Co-Creation
Authors: Jennifer Eckhardt, Christoph Kaletka, Daniel Krüger, Karina Maldonado-Mariscal, Ann Christin Schulz
Journal: Front Sociol (2021)
Keywords: citizen science, co-creation, design, ecosystem, social innovation
MeSH terms: Review

Citizen science is becoming increasingly important as a new and participative mode of knowledge production. An essential element of citizen science is co-creation. Co-creation is by no means limited to a modus operandi for participatory science, but introduces a form of collaborative way of working with society in the sense of citizen science. Results from the H2020 SISCODE project show that co-creation is located inside and between different sectors of society. This article focuses on the question of how co-creation can be better understood in different contexts, and presents a heuristic model that has already been used for case study analyses in the SISCODE project. After an introduction to the field of co-creation and a brief description of the heuristic model, its capability is exemplarily demonstrated via application to two selected cases, followed by a discussion of central learnings and implications for further research on co-creation.