OpenMed/multicare-articles huggingface dataset:
Aberrant single metastasis to the elbow from primary rectal cancer: a rare presentation
Authors: Alessandro Bianchi, Marina Jimenez-Segovia, Jaume Bonnin-Pascual, Marga Gamundí-Cuesta, Myriam Fernandez-Isart, Monica Guillot-Morales, Diego Salinas-Gonzalez, Xavier Francesc Gonzalez-Argenté
Journal: Pan Afr Med J (2020)
Keywords: metastasis, colorectal carcinoma, elbow, rectal carcinoma
MeSH terms: Adenocarcinoma / pathology, Bone Neoplasms / secondary, Elbow / pathology, Rectal Neoplasms / pathology, Case Reports, Adenocarcinoma / diagnosis, Aged, 80 and over, Bone Neoplasms / diagnosis, Diagnosis, Differential, Elbow / diagnostic imaging, Fatal Outcome, Humans, Male, Neoplasm Staging, Rectal Neoplasms / diagnosis

Rectal adenocarcinoma usually metastasizes to the liver and lungs and when it has bone spread, it more frequently involves the vertebrae and pelvis. Thus, aberrant metastasis from a rectal adenocarcinoma to upper extremities with preservation of intra-abdominal organs is very uncommon. We present the case of an 80-year-old male patient with a diagnosis of adenocarcinoma of the rectum T4N1M1 with non-axial single bone metastases and with preservation of visceral organs. Anterior resection of rectum after neoadjuvant chemotherapy and radiotherapy were made. The bone metastasis received palliative radiotherapy and was not resected. The patient died 10 months after diagnosis. This clinical situation generally has a poor prognosis. When the patient complains of unusual bone pain it is necessary to suspect a malignant disease and even if extraordinarily rare, rectal cancer must be considered as a possible cause.
Chronic myelogenous leukemia occurring in two brothers: The opposite sides of the same coin?
Authors: Evgenia Verrou, Kyriaki Tsirou, Nikolaos Karampatzakis, Theodora Triantafyllou, Aggeliki Sevastoudi, Georgia I Grigoriadou, Pavlina Konstantinidou, Panagiotis Panagiotidis, Eirini Katodritou
Journal: Leuk Res Rep (2021)
Keywords: familial cml, tyrosine kinase inhibitors
MeSH terms: Case Reports

Herein we present a rare case of two brothers diagnosed with CML four years apart. Importantly, our case of CML occurrence among siblings is the fifth one reported and the second one investigated by both, conventional cytogenetics and RT-PCR analysis. Moreover, although Ph chromosome was detected in both our patients, RT-PCR revealed the presence of two different BCR-ABL transcripts. Finally, both our patients have been followed for a long period of time offering thus the opportunity to observe the differences in the clinical course.
Risk stratification of latent tuberculosis defined by combined interferon gamma release assays
Authors: Véronique Corbière, Gaelle Pottier, Florence Bonkain, Kinda Schepers, Virginie Verscheure, Sophie Lecher, T Mark Doherty, Camille Locht, Françoise Mascart
Journal: PLoS One (2012)
MeSH terms: Antigens, Bacterial / immunology, Bacterial Proteins / immunology, Interferon-gamma Release Tests / methods, Latent Tuberculosis / classification, Latent Tuberculosis / diagnosis, Lectins / immunology, Risk Assessment / methods, Research Support, Non-U.S. Gov't, Humans, Retrospective Studies, Antigens, Bacterial, Bacterial Proteins, ESAT-6 protein, Mycobacterium tuberculosis, Lectins, heparin-binding hemagglutinin

Background:
Most individuals infected with Mycobacterium tuberculosis develop latent tuberculosis infection (LTBI). Some may progress to active disease and would benefit from preventive treatment yet no means currently exists to predict who will reactivate. Here, we provide an approach to stratify LTBI based on IFN-γ responses to two antigens, the recombinant Early-Secreted Antigen Target-6 (rESAT-6) and the latency antigen Heparin-Binding Haemagglutinin (HBHA).
Methods:
We retrospectively analyzed results from in-house IFN-γ-release assays with HBHA (HBHA-IGRA) and rESAT-6 (rESAT-6-IGRA) performed during a 12-year period on serial blood samples (3 to 9) collected from 23 LTBI subjects in a low-TB incidence country. Both the kinetics of the absolute IFN-γ concentrations secreted in response to each antigen and the dynamics of HBHA/rESAT-6-induced IFN-γ concentrations ratios were examined.
Results:
This analysis allowed the identification among the LTBI subjects of three major groups. Group A featured stable HBHA and rESAT-6-IGRA profiles with an HBHA/rESAT-6 ratio persistently higher than 1, and with high HBHA- and usually negative rESAT-6-IGRA responses throughout the study. Group B had changing HBHA/rESAT-6 ratios fluctuating from 0.0001 to 10,000, with both HBHA and rESAT-6 responses varying over time at least once during the follow-up. Group C was characterized by a progressive disappearance of all responses.
Conclusions:
By combining the measures of IFN-γ concentrations secreted in response to an early and a latency antigens, LTBI subjects can be stratified into different risk groups. We propose that disappearing responses indicate cure, that persistent responses to HBHA with HBHA/rESAT-6 ratios ≥ 1 represent stable LTBI subjects, whereas subjects with ratios varying from >1 to <1 should be closely monitored as they may represent the highest-risk group, as illustrated by a case report, and should therefore be prioritized for preventive treatment.
Surgical excision of vaginal cysts presenting as pelvic organ prolapse: a case series
Authors: Sofia Tsiapakidou, Iakovos Theodoulidis, Grigoris Grimbizis, Themistoklis Mikos
Journal: Pan Afr Med J (2022)
Keywords: vaginal cysts, excision technique, pelvic organ prolapse, surgical management, vaginal surgery
MeSH terms: Cystocele / diagnosis, Cystocele / surgery, Cysts / diagnosis, Cysts / surgery, Pelvic Organ Prolapse / diagnosis, Pelvic Organ Prolapse / surgery, Uterine Prolapse, Vaginal Neoplasms, Case Reports, Adult, Female, Humans, Middle Aged, Vagina / surgery

Vaginal cysts are rare, benign, predominantly cystic lesions of the anterior vaginal wall, with a prevalence of 1 in 200 women. Large vaginal cysts can occasionally present as symptomatic genital prolapse; these cases may be challenging to diagnose due to their rare clinical appearance. In symptomatic large vaginal cysts, surgical excision via vaginal approach is the recommended management with good anatomical results and patient satisfaction. The series of three consecutive adult women were referred for bothersome bulging prolapse. They were found to have a sizeable vaginal cyst at the anterior wall, associated with other symptoms. All patients (mean age 37±8.5 years) underwent total trans-vaginal surgical excision of the lesion. They were followed up in the out-patient department at six weeks and six months with no recurrences mentioned. Vaginal cysts are usually solitary, small, and asymptomatic; however, they can increase in size, easily mimic other pathologies, and are misdiagnosed as cystocele. Therefore, complete surgical vaginal excision of the symptomatic vaginal lesion is feasible and constitutes a good management option.
Treatment of ampullary neuroendocrine tumor by Capecitabine (Xeloda®) and Temozolomide (Temodal®)
Authors: Sima Noorali, Shirin Haghighi
Journal: Gastroenterol Hepatol Bed Bench (2021)
Keywords: capecitabine, neuroendocrine tumors, temozolomide, vater's ampulla
MeSH terms: Case Reports

Neuroendocrine tumors of the gastrointestinal tract and pancreas include a range of rare and diverse neoplasms with unique tumor biology, natural history, and clinical management. Neuroendocrine tumors of the ampulla of Vater are extremely uncommon cancers that account for only about 0.3%-1% of all gastrointestinal neuroendocrine tumors. Approximately 139 cases have been reported to date. In this paper, we describe two patients with low to intermediate grades of ampullary neuroendocrine tumors that underwent multiple courses of chemotherapy with Capecitabine (Xeloda®) and Temozolomide (Temodal®). Our two patients had a dramatic response to this regimen. According to our study, it seems that ampullary neuroendocrine tumors have behavior like pancreatic neuroendocrine tumors which requires further studies in more patients.
Detection of Excess Presence of 99m Tc-MDP Near Injection Site-A Case Report
Authors: James R Crowley, Iryna Barvi, Debbie Greulich, Jackson W Kiser
Journal: Front Med (Lausanne) (2021)
Keywords: 99mtc-mdp, bone scans, extravasation, infiltration, injection quality
MeSH terms: Case Reports

Nuclear medicine extravasations and prolonged venous stasis may cause poor quality and quantification errors that can affect image interpretation and patient management. Radiopharmaceutical remaining near the administration site means that some portion of the radioactivity is not circulating as required for the prescribed uptake period. This case describes how detection of excess presence of 99mTc-MDP near the injection site enabled the technologist to apply mitigation tactics early in the uptake process. It also suggests that detecting an extravasation or stasis early in the injection process can be important for image interpretation and minimizing radiation dose to tissue.
Erythema Dyschromicum Perstans in an 8-Year-Old Indian Child
Authors: Alexander K C Leung, Joseph M Lam
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

We report an 8-year-old East Indian boy with erythema dyschromicum perstans. The condition has very rarely been reported in prepubertal Indian children. A perusal of the literature revealed but two cases, to which we add another one. Recognition of erythema dyschromicum perstans in prepubertal Indian children is important for proper diagnosis and to prevent unnecessary investigations.
Kikuchi-Fujimoto disease associated with community acquired pneumonia showing intrathoratic lymphadenopathy without cervical lesions
Authors: Nobuhito Naito, Tsutomu Shinohara, Hisanori Machida, Hiroyuki Hino, Keishi Naruse, Fumitaka Ogushi
Journal: Springerplus (2015)
Keywords: community acquired pneumonia, intrathoratic lymphadenopathy, kikuchi-fujimoto disease

Introduction:
Kikuchi-Fujimoto disease (KFD), or histiocytic necrotizing lymphadenitis, is a rare entity of unknown etiology in young adults that is typically characterized by cervical lymphadenopathy and persistent fever. The pathogenesis of KFD has been suggested to be an abnormal immune response, and infections or autoimmune diseases are considered to be involved in KFD. However, KFD associated with community acquired pneumonia (CAP) has not been reported.
Case description:
A 35-year-old male was admitted due to high fever, diffuse air-space consolidation in the right lung with ipsilateral pleural effusion and massive mediastinal and hilar lymphadenopathy without cervical lesions. On clinical suspicion of malignant lymphoma complicated with pneumonia, we performed a video-assisted thoracoscopic lymph node biopsy, and the diagnosis of KFD was established. Complete cure of the intrathoratic lesions was observed by administration of β-lactam antibiotics alone without steroid therapy.
Discussion and evaluation:
Previous large case series have identified no pathogenic relationship between KFD and pneumonia. The hilar adenopathy could have caused airway compression leading to pneumonia.
Conclusions:
KFD should be considered in the differential diagnosis of massive mediastinal and hilar lymphadenopathy, even when there are no superficial lesions. In addition, we need to bear in mind that unexpected disorders occasionally coexist with common diseases.
Reactive Thrombocytosis Associated with Acute Myocardial Infarction following STEMI with Percutaneous Coronary Intervention
Authors: Nat Dumrongmongcolgul, Charoen Mankongpaisarnrung, Grerk Sutamtewagul, Nattamol Hosiriluck, Timothy Chen, Alexander Trujillo, Nicholas Dcunha, Kenneth Nugent, Leigh Ann Jenkins
Journal: Case Rep Cardiol (2013)

The etiology of thrombocytosis can be classified into reactive and essential forms. The rate of thromboembolic events is higher in essential thrombocytosis, and these events include strokes, transient ischemic attacks, retinal artery or retinal vein occlusions, digital ischemia, and acute coronary syndrome. In a study of 732 medical and surgical patients with thrombocytosis, 88% had reactive thrombocytosis. Patients with reactive thrombocytosis do not require cytoreductive medications or antiplatelet treatment. We report a healthy 40-year-old man without any medical problems who developed a new episode of myocardial infarction associated with thrombocytosis after an episode of myocardial infarction followed by percutaneous coronary intervention. He had thrombocytosis, and his platelet function test did not reveal adequate inhibition. To treat his acute coronary syndrome, therapeutic enoxaparin was added, and clopidrogel was substituted with ticagrelor. We decided to start hydroxyurea to reduce platelets counts. Enoxaparin and hydroxyurea were discontinued when platelet count returned to baseline. JAK-2 and BCR/ABL mutations were negative. This case report highlights a clinical dilemma (reactive thrombocytosis), which is challenging in terms of management and pathophysiology.
Nightmare and Abnormal Dreams: Rare Side Effects of Metformin?
Authors: Theo Audi Yanto, Ian Huang, Felicia Nathania Kosasih, Nata Pratama Hardjo Lugito
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Background:
Metformin is widely known as an antidiabetic agent which has significant gastrointestinal side effects, but nightmares and abnormal dreams as its adverse reactions are not well reported.
Case presentation:
Herein we present a case of 56-year-old male patient with no known history of recurrent nightmares and sleep disorder, experiencing nightmare and abnormal dreams directly after consumption of 750 mg extended release metformin. He reported his dream as an unpleasant experience which awakened him at night with negative feelings. The nightmare only lasted for a night, but his dreams every night thereafter seemed abnormal. The dreams were vivid and indescribable. The disappearance and occurrence of abnormal dreams ensued soon after the drug was discontinued and rechallenged. The case was assessed using Naranjo Adverse Drug Reaction (ADR) probability scale and resulted as probable causality.
Conclusion:
Metformin might be the underlying cause of nightmare and abnormal dreams in this patient. More studies are needed to confirm the association and causality of this findings.
Iris Vascular Malformation with 360-Degree Iridocorneal Angle Affectation
Authors: Cristina Calleja-García, Jorge Suárez-Baraza, Enrique Mencía-Gutiérrez
Journal: Case Rep Ophthalmol Med (2020)
MeSH terms: Case Reports

Vascular iris lesions are rare and can sometimes be associated to systemic vascular lesions. They usually cause spontaneous recurrent hyphema. The differential diagnosis should be considered primarily with iris rubeosis and with highly vascular tumors as iris melanoma. Generally, vascular lesions of hemangioma type are located in the iris without extension to iridocorneal angle. We present a case of a 77-year-old male with an iris vascular lesion suggestive of racemose hemangioma, who is asymptomatic, and with 360-degree iridocorneal angle affectation showing no lesions at any other location.
Delayed presentation of pharyngeal erosion after anterior cervical discectomy and fusion
Authors: Amit Nathani, Alexander E Weber, Trevor C Wahlquist, Gregory P Graziano, Paul Park, Rakesh D Patel
Journal: Case Rep Orthop (2015)

Dysphagia after anterior cervical discectomy and fusion (ACDF) is common, with a prevalence ranging between 28% and 57% of cases. However, nearly all cases resolve spontaneously within 2 years, thus identifying patients who require more detailed or invasive work-up is a challenging task for clinicians. A review of literature reveals a paucity of case reports detailing work-up and successful management options. The authors performed a clinical and radiographic review of a case of a 47-year-old female who presented with persistent dysphagia 3 years following anterior cervical spine surgery and was found to have an erosive pharyngeal defect with exposed spinal hardware. The diagnosis was made with direct laryngoscopy and treatment consisted of plate removal and pharyngeal repair, followed by revision fusion with deformity correction. This case and the accompanying pertinent review of the literature highlight the importance of a thorough evaluation of dysphagia, especially in the mid- and late-term postoperative period following ACDF, when most cases of dysphagia should have been resolved. Correctly identifying the underlying etiology of dysphagia may lead to improved revision of ACDF outcomes. Unresolved dysphagia should be a red flag for surgeons as it may be the presentation of erosive esophageal/pharyngeal damage, a rare but serious complication following ACDF.
Late Onset Graft Plasmacytoma-Like PTLD Presenting as Acute Hyperglycemia in a Kidney-Pancreas Transplant Recipient
Authors: P Ventura-Aguiar, M T Cibeira, A Martinez, M Cuatrecasas, M Aymerich, J Ferrer, J Blade, F Diekmann, M J Ricart
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Allograft infiltration has been described in up to 20% of all patients with posttransplant lymphoproliferative disorder (PTLD), most representing EBV-positive B-cell lymphomas. Plasma cells are often observed in humoral rejection biopsies, but graft infiltration by plasmacytoma-like PTLD is rare. We report the case of a 54-year-old simultaneous pancreas-kidney transplant recipient (immunosuppression: OKT3, methylprednisolone, cyclosporine, and azathioprine), diagnosed with an IgG-kappa monoclonal gammopathy of undetermined significance eighteen years after transplant. Nine months later, pancreas allograft biopsy performed due to new-onset hyperglycemia (HgA1C 8.6%, C-peptide 6.15ng/mL and anti-GAD 0.9UI/mL) revealed a monotypic plasma cell infiltrate, CD19, CD79a, CD138 positive, with IgG-kappa light chain restriction, and EBV negative. PET-scan FDG uptake was limited to pancreas allograft. Tumor origin could not be established (using DNA microsatellite analysis). Despite treatment with bortezomib and dexamethasone, patient eventually died one month later. This is the first report of a late onset extramedullary plasmacytoma involving a pancreas allograft.
Crohn's disease manifesting as ileo-urachal fistula: Two cases reports and review of literatures
Authors: Hirosuke Kuroki, Akira Sugita, Kazutaka Koganei, Kenji Tatsumi, Ryo Futatsuki, Nao Obara, Katsuhiko Arai, Tsuneo Fukushima
Journal: Int J Surg Case Rep (2018)
Keywords: crohn’s disease, urachus, fistula

Introduction:
A fistula involving a patent urachus in a patient with Crohn's disease is rare. Here we report ileourachal fistula formation in two patients with Crohn' disease.
Case presentations:
The first patient was a 29-year-old man with Crohn's disease and ileitis, and the second patient was a 43-year-old man with Crohn's disease and ileitis. One of the patients showed pus/fecal discharge via the umbilicus. Both patients were eventually diagnosed with an ileourachal fistula associated with Crohn's disease. In the first patient, the urachal remnant was connected to the urinary bladder and a Crohn's disease-related intestinal lesion had formed a fistula to the urachus. In the second patient, a periumbilical inflammatory lesion extended to the bladder through the urachal remnant and to a longitudinal ulcer of the ileal lesion. The first patients underwent partial ileal resection, and partial cystectomy, while the second patient underwent urachal curettage, partial ileal resection, and partial cystectomy. In both.
Conclusion:
In cases of Crohn's disease with an enterocutaneous fistula or pus discharge via the umbilicus, an examination to detect an urachal remnant with a fistula from the diseased intestine should be performed.
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
Authors: Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann, Vamsi K Mootha
Journal: BMC Med Genet (2012)
MeSH terms: DNA Mutational Analysis, Exome, High-Throughput Nucleotide Sequencing, Mitochondrial Diseases / diagnosis, Wolfram Syndrome / diagnosis, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Atrophy, Brain / pathology, DNA, Mitochondrial / chemistry, Diagnosis, Differential, Exons, Homozygote, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins / genetics, Middle Aged, Mitochondrial Diseases / genetics, Mutation, Missense, Wolfram Syndrome / genetics, DNA, Mitochondrial, Membrane Proteins, wolframin protein

Background:
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci.
Case presentation:
Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome.
Conclusion:
This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.