OpenMed/multicare-articles huggingface dataset:
A complex variant t(3;15) (q26;q13) representing cryptic/masked acute promyelocytic leukaemia with a novel breakpoint of chromosome 15-a case report
Authors: Sandhya Appachu, Chintaparthi Obulareddy, Nagesh T Sirsath, Kuntejowdahalli C Lakshmaiah, Prasanna Kumari
Journal: Ecancermedicalscience (2013)
Keywords: apml, atra, variant translocation

Acute promyelocytic leukaemia (APML) is a biologically and clinically distinct variant of AML, currently classified as acute myeloid leukaemia with recurrent cytogenetic anomalies t(15;17) (q22;q21), promyelocytic leukaemia-retinoic acid receptor alpha, diagnosis regardless of blast count in the World Health Organization classification system. It is one of the curable malignancies, has a unique clinical presentation, often with disseminated intravascular coagulation, and has a targeted therapy for its treatment in the form of all trans retinoic acid (ATRA) and arsenic trioxide (ATO). Here, we report a complex type of variant APML t(3;15) (q26;q13), the need for conventional karyotyping for diagnosing such rare variants, and its response to ATRA and ATO.
Cytomegalovirus pneumonia in an immunosuppressed sarcoidosis patient; a rare case of cytomegalovirus infection in a sarcoidosis patient
Authors: Mahnaz Mozdourian, Rozita Khodashahi
Journal: Caspian J Intern Med (2021)
Keywords: cytomegalovirus, pneumonia, sarcoidosis
MeSH terms: Case Reports

Background:
Sarcoidosis is a multisystemic granulomatosis disease that is mostly treated with immunosuppressive regimens. Studies demonstrated that these patients are prone to develop various infections. However, some infections including viral severe pneumonia is rare complications in sarcoidosis patients. In the present report, we described for cytomegalovirus (CMV) pneumonia in a female patient with sarcoidosis which has been successfully managed by ganciclovir.
Case presentation:
Herein, we present a known case of sarcoidosis admitted to the emergency department because of fever, dyspnea, and productive cough. The patient was receiving prednisolone and methotrexate for months. The primary chest x-ray imaging revealed bilateral infiltration, especially in the upper lobes and hilar lymphadenopathy. The lung high resolution computed tomography showed a bilateral diffuse nodular pattern. After 72 hours of antimicrobial treatment, the fever was still present and the patient became a candidate for fiberoptic bronchoscopy. The gram staining of the bronchial fluid, polymerase chain reaction for tuberculosis, and PCP was also unremarkable. However, the PCR-CMV was positive. The quantitative PCR for CMV form blood sample was taken and the result came back as 3.6*103. With the impression of CMV pneumonia, a daily dose of 5mg of ganciclovir was prescribed. After 3 weeks of receiving 5mg/kg of ganciclovir twice daily (600mg daily), clinical symptoms, and dyspnea improved. Also, the radiological findings improved.
Conclusion:
In the present report, we demonstrated that sarcoidosis patients' receiving immunosuppressives are prone to develop CMV pneumonia, and fever and dyspnea were the alarm signs of CMV pneumonia is our patient which was successfully managed by ganciclovir.
A Change in the Classical Order of Setting of Porous Metal Augments with Locked Cups in Hip Revision Surgery: Technical Note and Case Report
Authors: Antonio Murcia-Asensio, Francisco Ferrero-Manzanal, Pablo Sanz-Ruiz, Hermenegildo Cañada-Oya, Raquel Lax-Pérez, Christian Goetze
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Introduction:
Reconstruction of acetabular bone defects by the combination of trabecular metal augments and porous cups can be complex when extensive bone loss and poor-quality bone exists. The onset of porous cups with an interlocking mechanism may simplify surgical technique due to its superior initial mechanical stability. We endorse the possibility for a change in the classical order of setting of the augments and the cup.
Methods:
We present a technical modification and a series of cases of three patients with Paprosky IIB and IIIA acetabular defects operated with a combination of porous metal augments and a porous cup. In all the three patients, the setting of the cup was done first and secured with locked screws, and then the augments were set in place as a wedge and fixed with screws in a standard fashion.
Results:
The postoperative X-ray showed good position of implants with restoration of the center of rotation, and the patients had good recovery. Radiological evaluation in the midterm follow-up did not show mobilization of implants. Discussion. The use of metal porous augments is widely used for severe acetabular defects, being a versatile system to adapt to the different size defects. Nevertheless, its use may be technically demanding and time consuming. It is not infrequent that the setting of the augments conditions the final position of the cup with a possible interference with initial stability and eventually bone ingrowth of the cup. The interlocking mechanism offers an additional biomechanical stability and thus may allow us to place the cup first in the desired position with a less demanding technique.
Conclusion:
With the use of locked-screw porous metal cups, the order of setting of implants may be changed in order to obtain a better restoration of the center of rotation and increased host-bone implant contact with a simplified surgical technique.
A Case of Systemic Lupus Erythematosus in a Patient Presenting with Libman-Sacks Endocarditis
Authors: Mariann Al-Jehani, Faisal Al-Husayni, Ahmed Almaqati, Jomanah Shahbaz, Saad Albugami, Wail Alameen
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Background:
Libman-Sacks endocarditis (LSE) is a rare cardiovascular manifestation of systemic lupus erythematosus/antiphospholipid syndrome that is described as a sterile verrucous nonbacterial vegetative lesion. These lesions can cause progressive damage to the heart valves leading to valve surgery. The most common valves to be affected are the aortic and mitral valves. Libman-Sacks endocarditis is associated with malignancies, other systemic diseases like systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS). The majority of LSE patients are usually asymptomatic. Case Summary. We describe a 39-year-old male patient who presented with increasing shortness of breath and pulmonary congestion. He was found to have severe mitral valve regurgitation and mitral stenosis. Transesophageal echocardiogram confirmed the diagnosis of Libman-Sacks endocarditis with thickened mitral valve leaflets with symmetrical mass-like structure causing a restriction in the valve function during both cardiac phases later diagnosed with systemic lupus erythematosus by immunology. The patient was started on diuretics, anticoagulants, angiotensin inhibitors, beta-blockers, and hydroxychloroquine. He underwent successful mechanical mitral valve replacement with a 27 mm St. Jude valve. The mitral valve was found to be grossly thickened with friable tissue and complete amalgamation of the leaflets with subvalvular apparatus. The patient suffered some warfarin adverse effects a year later but did well otherwise.
Conclusion:
This case demonstrates that Libman-Sacks endocarditis can be the first manifestation of systemic lupus erythematosus. Early and prompt diagnosis of LSE can prevent and lessen the many side effects associated with thromboembolism. Additionally, addressing the underlying disease is key to successful treatment.
Periodontal disease and pregnancy outcomes
Authors: Dolapo A Babalola, Folashade Omole
Journal: J Pregnancy (2010)
MeSH terms: Fetal Death, Gingivitis / complications, Periodontitis / complications, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Chronic Disease, Female, Humans, Pregnancy, Stillbirth, Anti-Bacterial Agents

An increasing number of studies are confirming an association between periodontal disease (PD) and adverse outcomes in pregnancy. PD places pregnant women at greater risk for preterm birth than alcohol consumption or smoking. This underscores the importance of offering dental screening to women who are pregnant or contemplating pregnancy and the need for physicians who provide obstetric care to be aware of the possible connection between poor dental health and poor pregnancy outcomes.
Case report: Sandwich therapy of CAR-T combined with ASCT: Sequential CAR-T cell therapy with ASCT after remission with CAR-T therapy caused long-term survival in a patient with relapsed/refractory Burkitt's lymphoma with TP53 mutations
Authors: Qi Zhang, Xiaojian Zhu, Bo Liu, Yicheng Zhang, Yi Xiao
Journal: Front Immunol (2023)
Keywords: asct, burkitt’s lymphoma, car-t, tp53 mutations, relapsed/refractory
MeSH terms: Burkitt Lymphoma / genetics, Burkitt Lymphoma / therapy, Receptors, Chimeric Antigen / genetics, Case Reports, Research Support, Non-U.S. Gov't, Cell- and Tissue-Based Therapy, Humans, Mutation, Neoplasm Recurrence, Local, Tumor Suppressor Protein p53 / genetics, Receptors, Chimeric Antigen, TP53 protein, human, Tumor Suppressor Protein p53

Burkitt's lymphoma (BL) with TP53 mutation often has poor outcome after standard chemoimmunotherapy. Adoptive chimeric antigen receptor (CAR)-T cell therapy may be a new paradigm for treating refractory/relapsed (r/r) BL, but its therapeutic effects remain inconclusive. Here, we report a patient with r/r BL who failed to achieve complete remission (CR) and progressed rapidly after multiple protocol chemotherapy. The patient achieved CR with CAR19 and CAR22 T-cell cocktail therapy and obtained long-term disease-free survival after autologous hematopoietic stem cells (ASCT) and subsequential CAR19 and CAR22 T-cell cocktail therapy. The clinical evolution and genetic features of this case may provide some guidance for CAR-T therapy in overcoming relapses associated with TP53 gene mutations.
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
Authors: Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Journal: Front Genet (2021)
Keywords: xylt2, exome sequencing (es), skeletal dysplasia, spondyloocular syndrome (sos), xylosyltransferase ii
MeSH terms: Case Reports

Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant c.1586dup p(Thr530Hisfs*) in the XYLT2 gene was detected by exome sequencing (ES). The first patient (9 years) presented short stature with skeletal defects, long face, hearing loss and cataract. The second patient, evaluated at a few days of life, showed macrosomia, diffuse hypertrichosis on the back, overabundant skin in the retronucal area, flattened facial profile with drooping cheeks, elongated eyelid rims, wide and flattened nasal bridge and turned down corners of the mouth. During the prenatal period, high nuchal translucency and intestinal hyperechogenicity were observed at ultrasound. In conclusion, these two siblings with a novel pathogenic variant in XYLT2 further expand the clinical and mutational spectrum of SOS.
Laparoscopic drainage of a hepatic echinococcal cyst: a case report
Authors: Steven B Goldin, James J L Mateka, Michael J Schnaus, Sujat Dahal
Journal: Case Rep Gastrointest Med (2011)
MeSH terms: Case Reports

The Echinococcus granulosus tapeworm causes hepatic echinococcosis. It is endemic in the Mediterranean region, Middle East, and South America. Human infection is secondary to accidental consumption of ova in feces. Absorption through the bowel wall and entrance into the portal circulation leads to liver infection. This case involves a 34 y/o Moroccan male with an echinococcal liver cyst. His chief complaint was RUQ pain. The patient was treated with albendazole and praziquantel. His PMH and PSH was noncontributory. Patient was not on any other medications. ROS was otherwise unremarkable. The patient was AF VSS. He was tender to palpation in RUQ. Liver function tests were normal. Echinococcal titers were positive. CT demonstrated a large cystic lesion in the right lobe of the liver measuring 13.5 cm in diameter. The patient underwent successful laparoscopic drainage and excision of echinococcal cyst. Final pathology demonstrated degenerating parasites (E. granulosus) of echinococcal cyst.
Effectiveness and safety of anakinra in gouty arthritis: A case series and review of the literature
Authors: Sicylle Jeria-Navarro, Alejandro Gomez-Gomez, Hye Sang Park, Enrique Calvo-Aranda, Hector Corominas, Maria Antonia Pou, Cesar Diaz-Torne
Journal: Front Med (Lausanne) (2023)
Keywords: il-1 blockade, il-1 blocking agents, il-1 inhibition, anakinra, biological therapies, gout, gout flare, gouty arthritis

Background:
Gout is the most common type of inflammatory arthritis. Nonsteroidal anti-inflammatory drugs, corticosteroids, and colchicine are the first-line agents, although they are contraindicated in many patients. Blockade of IL-1 with anakinra can be an alternative.
Objective:
To present a case series of 10 difficult-to-treat gout patients treated with anakinra and perform a scoping review of the effectiveness and safety of anakinra in gout patients.
Methods:
A total of 1,519 citations were screened. The reviewers ran a two-stage screening process by title/abstract and full-text reading. Thirty-eight articles finally met the selection criteria and were included for data extraction and synthesis. Experience in difficult-to treat and complex clinical scenarios, such as active infection, hemodialysis, and transplantation, were specifically described.
Results:
The study sample comprised 551 patients, from whom 648 flares were finally analyzed. The mean age was 57.9 years, and 82.9% were men. The clinical presentation was polyarticular in 47.5% and tophaceous in 66.9%. Sixty-five patients with an active infection, 41 transplanted patients and 14 in haemodyalisis treated with anakinra are described. More than half of the patients had >1 associated comorbidity. Anakinra was effective both for flares (94%) and for long-term treatment (91%) and well tolerated. In the case of flares, 34 (6.7%) adverse effects were registered. Adverse events were more prevalent in long-term treatment.
Conclusion:
Anakinra was effective and safe for management of gout flares in difficult-to-treat patients. It has been used in multiple complex scenarios, such as active infections, dialysis, transplantation, chronic kidney disease, and polyarticular gout. Anakinra has also proven effective as long-term treatment, although there are more concerns about its safety.
Minimally Invasive Approach of a Retrocaval Ureter
Authors: Nuno Fidalgo, Hugo Pinheiro, Frederico Ferronha, Jorge Morales, Luís Campos Pinheiro
Journal: Case Rep Urol (2016)

The retrocaval ureter is a rare congenital entity, classically managed with open pyeloplasty techniques. The experience obtained with the laparoscopic approach of other more frequent causes of ureteropelvic junction (UPJ) obstruction has opened the method for the minimally invasive approach of the retrocaval ureter. In our paper, we describe a clinical case of a right retrocaval ureter managed successfully with laparoscopic dismembered pyeloplasty. The main standpoints of the procedure are described. Our results were similar to others published by other urologic centers, which demonstrates the safety and feasibility of the procedure for this condition.
Spontaneous Distal Extrusion of Kuntscher Intramedullary Nail
Authors: W B Teh, R Kuharajan, A H Noor Shafika, I G Nur Azhani
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Migration of femoral Kuntscher intramedullary nail (K-nail) proximally or distally within the femoral medullary cavity is a well-known documented complication, but spontaneous extrusion of a distally migrated K-nail is a rare complication. This is a case report of a 33-year-old lady who complained of sudden onset left knee pain and presented with spontaneous extrusion of a Kuntscher nail 12 years postinsertion. She underwent a successful K-nail removal surgery and showed a good clinical outcome after 6 months of outpatient follow-up.
Designing tailored Web-based instruction to improve practicing physicians' preventive practices
Authors: Linda L Casebeer, Sheryl M Strasser, Claire M Spettell, Terry C Wall, Norman Weissman, Midge N Ray, Jeroan J Allison
Journal: J Med Internet Res (2003)
MeSH terms: Computer-Assisted Instruction / methods, Education, Medical, Continuing / methods, Internet / trends, Physicians, Practice Patterns, Physicians' / trends, Preventive Medicine / methods, Evaluation Study, Multicenter Study, Research Support, U.S. Gov't, P.H.S., Adolescent, Adult, Chlamydia / isolation & purification, Chlamydia Infections / diagnosis, Female, Humans, Mass Screening / statistics & numerical data, Needs Assessment, Preventive Medicine / trends, Private Practice / trends, Problem-Based Learning / methods

Background:
The World Wide Web has led to the rapid growth of medical information and continuing medical educational offerings. Ease of access and availability at any time are advantages of the World Wide Web. Existing physician-education sites have often been designed and developed without systematic application of evidence and cognitive-educational theories; little rigorous evaluation has been conducted to determine which design factors are most effective in facilitating improvements in physician performance and patient-health outcomes that might occur as a result of physician participation in Web-based education. Theory and evidence-based Web design principles include the use of: needs assessment, multimodal strategies, interactivity, clinical cases, tailoring, credible evidence-based content, audit and feedback, and patient-education materials. Ease of use and design to support the lowest common technology denominator are also important.
Objective:
Using these principles, design and develop a Web site including multimodal strategies for improving chlamydial-screening rates among primary care physicians.
Methods:
We used office-practice data in needs assessment and as an audit/feedback tool. In the intervention introduced in 4 phases over 11 months, we provided a series of interactive, tailored, case vignettes with feedback on peer answers. We included a quality-improvement toolbox including clinical practice guidelines and printable patient education materials.
Results:
In the formative evaluation of the first 2 chlamydia modules, data regarding the recruitment, enrollment, participation, and reminders have been examined. Preliminary evaluation data from a randomized, controlled trial has tested the effectiveness of this intervention in improving chlamydia screening rates with a significant increase in intervention physicians' chlamydia knowledge, attitude, and skills compared to those of a control group.
Conclusions:
The application of theory in the development and evaluation of a Web-based continuing medical education intervention offers valuable insight into World Wide Web technology's influence on physician performance and the quality of medical care.
Case Report: Covid-19 in Multiple Sclerosis Patients Treated With Ocrelizumab: A Case Series
Authors: Stefania F De Mercanti, Marco Vercellino, Chiara Bosa, Anastasia Alteno, Valentina Schillaci, Marinella Clerico, Paola Cavalla
Journal: Front Neurol (2021)
Keywords: covid-19, sars-cov-2, disease-modifying treatment, multiple sclerosis, ocrelizumab
MeSH terms: Case Reports

Introduction: Limited data are available on the course of Coronavirus disease 2019 (COVID-19) in people with Multiple Sclerosis (MS). More real-world data are needed to help the MS community to manage MS treatment properly. In particular, it is important to understand the impact of immunosuppressive therapies used to treat MS on the outcome of COVID-19. Methods: We retrospectively collected data on all confirmed cases of COVID-19 in MS patients treated with ocrelizumab, followed in two MS Centers based in University Hospitals in Northern Italy from February 2020 to June 2021. Results: We identified 15 MS patients treated with ocrelizumab with confirmed COVID-19 (mean age, 50.47 ± 9.1 years; median EDSS, 3.0; range 1.0-7.0). Of these, 14 were confirmed by nasal swab and 1 was confirmed by a serological test. COVID-19 severity was mild to moderate in the majority of patients (n = 11, 73.3%; mean age, 49.73; median EDSS 3.0). Four patients (26.7%; mean age, 52.5 years; median EDSS, 6) had severe disease and were hospitalized; one of them died (age 50, EDSS 6.0, no other comorbidities). None of them had underlying respiratory comorbidities. Conclusion: This case series highlights the large variability of the course of COVID-19 in ocrelizumab-treated MS patients. The challenges encountered by the healthcare system in the early phase of the COVID-19 pandemic might have contributed to the case fatality ratio observed in this series. Higher MS-related disability was associated with a more severe COVID-19 course.
Cerebral Amyloid Angiopathy Presenting as Massive Subarachnoid Haemorrhage: A Case Study and Review of Literature
Authors: Satoshi Saito, Yoshihiko Ikeda, Daisuke Ando, Roxana Octavia Carare, Hatsue Ishibashi-Ueda, Masafumi Ihara
Journal: Front Aging Neurosci (2020)
Keywords: case report, cerebral amyloid angiopathy, intracerebral haemorrhage, pathology, subarachnoid haemorrhage

Cerebral amyloid angiopathy (CAA) is characterised by the progressive accumulation of β-amyloid (Aβ) in the walls of cerebral capillaries and arteries representing a major cause of haemorrhagic stroke including lobar intracerebral haemorrhage (ICH) and convexity subarachnoid haemorrhage (SAH). Haemorrhaging from CAA predominantly involves smaller arteries rather than arterial aneurysm. Restricted bleeding into the subarachnoid space in CAA results in asymptomatic or mild symptomatic SAH. Herein, we present an autopsied case of massive SAH related to CAA. An 89-year-old male with a history of mild Alzheimer's disease (AD) and advanced pancreatic cancer with liver metastasis developed sudden onset of coma. Head CT illustrated ICH located in the right frontal lobe and right insula, as well as SAH bilaterally spreading from the basal cistern to the Sylvian fissure, with hydrocephalus and brain herniation. He died about 24 h after onset and the post-mortem examination showed no evidence of arterial aneurysm. The substantial accumulation of Aβ in the vessels around the haemorrhagic lesions led to the diagnosis of ICH related to CAA and secondary SAH, which may have been aggravated by old age and malignancy. This case suggests that CAA can cause severe SAH resembling aneurysmal origin and thus may be overlooked when complicated by atypical cerebral haemorrhage.