OpenMed/multicare-articles huggingface dataset:
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies
Authors: Djuro Karanovic, Ian C Michelow, Anthony R Hayward, Suk See DeRavin, Ottavia M Delmonte, Michael E Grigg, Adam Kerry Dobbs, Julie E Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D Rosenzweig, Gulbu Uzel, Luigi D Notarangelo
Journal: Front Immunol (2019)
Keywords: apds2, pi3k, pi3k3r1, immunodeficiency, toxoplasmosis
MeSH terms: Class I Phosphatidylinositol 3-Kinases / genetics, Class Ia Phosphatidylinositol 3-Kinase / genetics, Immunologic Deficiency Syndromes / immunology, Mutation / genetics, Toxoplasma / physiology, Toxoplasmosis, Congenital / immunology, Case Reports, Research Support, N.I.H., Intramural, Review, Adult, Antibodies, Protozoan / blood, Child, Female, Humans, Immunity, Maternally-Acquired, Immunologic Deficiency Syndromes / diagnosis, Immunologic Deficiency Syndromes / genetics, Infant, Lymphadenopathy, Mothers, Phenotype, Toxoplasmosis, Congenital / diagnosis, Toxoplasmosis, Congenital / genetics, Antibodies, Protozoan, PIK3R1 protein, human, Class I Phosphatidylinositol 3-Kinases, Class Ia Phosphatidylinositol 3-Kinase, PIK3CD protein, human

Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysregulation. We describe here the first cases of disseminated and congenital toxoplasmosis in a mother and child who share a pathogenic mutation in PIK3R1 and review the mechanisms underlying susceptibility to severe Toxoplasma gondii infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.
Imatinib administration in two patients with liver metastases from GIST and severe jaundice
Authors: T De Pas, R Danesi, C Catania, G Curigliano, F De Braud, Italia Sarcoma Group
Journal: Br J Cancer (2003)
MeSH terms: Antineoplastic Agents / pharmacology, Gastrointestinal Neoplasms / pathology, Jaundice / etiology, Liver Neoplasms / complications, Liver Neoplasms / secondary, Piperazines / pharmacology, Pyrimidines / pharmacology, Case Reports, Adult, Aged, Antineoplastic Agents / administration & dosage, Antineoplastic Agents / adverse effects, Benzamides, Female, Gastrointestinal Neoplasms / complications, Humans, Imatinib Mesylate, Male, Piperazines / administration & dosage, Piperazines / adverse effects, Pyrimidines / administration & dosage, Pyrimidines / adverse effects, Stromal Cells / pathology, Treatment Outcome, Antineoplastic Agents, Benzamides, Piperazines, Pyrimidines, Imatinib Mesylate

Imatinib is the only effective and approved systemic therapy for the treatment of patients with advanced gastrointestinal stromal tumours (GISTs). Although metastases from GISTs most commonly involve the liver, yielding hyperbilirubinaemia, very few data on imatinib administration in subjects with jaundice are available. We provide evidence that imatinib tolerability was not adversely affected by jaundice in two patients with advanced GIST.
Olfactory neuroblastoma treated with minimally invasive surgery and adjuvant radiotherapy: a case report and review of the literature
Authors: Domenico Cante, Cristina Piva, Piera Sciacero, Pierfrancesco Franco, Edoardo Petrucci, Valeria Casanova Borca, Fabrizio Marola, Libero Tubino, Giorgio Vellani, Maria Rosa La Porta
Journal: BJR Case Rep (2018)
MeSH terms: Case Reports

Olfactory neuroblastoma (ON) is a rare tumour of the olfactory neuroepithelium that is characterized by a pattern of slow growth and local recurrences. Combination of surgery and radiotherapy, with or without chemotherapy, is considered to be the standard of care for primary site disease. Recent literature supports the view that endoscopic resection followed by adjuvant radiotherapy correlates with better outcome. In this short communication, we present a case report of olfactory neuroblastoma arising in the right nasal sinus in a 34-year-old male. This patient was treated with endoscopic resection and external beam radiotherapy to the right nasal sinus with intensity-modulated radiation therapy (IMRT) technique. After 2 years follow-up, the patient is free of tumour without any late effect related to therapies. We believe that, in such patients, a treatment strategy including endoscopic resection followed by adjuvant radiotherapy may be effective and feasible and should be considered the gold standard of care.
Left main coronary artery atresia in a 2-year-old toddler with de novo heart failure: Case report and review of the literature
Authors: Sahar Asl Fallah, Mohammad Mahdavi, Kiara Rezaei-Kalantari, Salah D Qanadli, Saeed Mirsadraee
Journal: Front Cardiovasc Med (2022)
Keywords: anomalous left coronary artery from the pulmonary artery (alcapa), cardiac magnetic resonance (cmr), congenital coronary anomaly, de novo heart failure, left main artery atresia
MeSH terms: Case Reports

Congenital coronary anomalies are among the rare disorders of the otherwise normal heart. A 2-year-old toddler was evaluated for de novo heart failure after a flu-like event 2 months before being suspicious of post-Covid-19 dilated cardiomyopathy. The cardiac magnetic resonance (CMR) technique displayed the basal to mid subendocardial to transmural scar, suggestive of an ischemic etiology. Further assessment with CT and invasive angiography confirmed the very uncommon left main coronary artery atresia (LMCAA) as the main cause of the patient's heart failure. This is not only the first reported LMCAA case that had undergone a CMR study but was also initially suspected with characteristic CMR findings.
Transvenous Extraction and Removal of Pacing Leads Placed after Cardiac Transplantation
Authors: Caleb Norton, Benjamin Holmes, Asad Al Aboud, Eun-Jeong Kim, Holly Gonzales, Christopher Ellis, Roy John, George H Crossley 3rd, Jay Montgomery
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

There is an increasing prevalence of cardiac implantable electronic devices (CIEDs) due to expanding adoption and availability of these evidence-based therapies. With the increased prevalence of these life-saving devices, there has also been an increased demand for lead removal and lead extraction. Understanding the specific subgroups of patients at high risk for complications during and after lead extraction has become imperative to properly manage endovascular CIED leads. There have been multiple published studies describing clinical variables that predict adverse outcomes in CIED system extractions; however, the risk of complications in leads placed after cardiac transplantation has not specifically been addressed to date. We present four cases of transvenous extraction and removal of pacing leads placed after cardiac transplantation. There were no major complications related to extraction in these four cases; however, three of the four patients died within one year after the procedure. While the etiology of death in these cases seemed to be unrelated to the extraction procedure, the indications for extraction (infection in the setting of immunosuppression and calcineurin-associated ESRD and poor sensing/capture possibly secondary to chronic rejection and/or frequent right heart biopsies) likely contributed at least indirectly to the subsequent death.
Refractory Epstein-Barr Virus (EBV)-Related Post-transplant Lymphoproliferative Disease: Cure by Combined Brentuximab Vedotin and Allogeneic EBV-Specific T-Lymphocytes
Authors: Thomas Mika, Katharina Strate, Swetlana Ladigan, Clemens Aigner, Uwe Schlegel, Iris Tischoff, Sabine Tischer-Zimmermann, Britta Eiz-Vesper, Britta Maecker-Kolhoff, Roland Schroers
Journal: Front Med (Lausanne) (2019)
Keywords: ptld, aggressive lymphoma, allohsct, brentuximab vedotin (bv), third-party ebv-specific t-lymphocytes
MeSH terms: Case Reports

Post-transplant lymphoproliferative disease (PTLD) represents a serious complication following allogeneic hematopoietic stem cell transplantation (alloHSCT). Previously, survival rates of PTLD have improved due to the introduction of rituximab. However, reports on curative management of refractory PTLD are scarce. Today, there is no consensus how to treat rituximab-refractory PTLD, especially in highly aggressive disease. Here, we describe successful management of refractory EBV-associated PTLD, specifically DLBCL, with combined brentuximab vedotin and third-party EBV-specific T-cells in a multidisciplinary treatment approach.
Migration of the Anterior Spinal Rod to the Right Thigh, a Rare Complication of Anterior Spinal Instrumentations: A Case Report and a Literature Review
Authors: Camino Willhuber Gaston, Taype Zamboni Danilo, Carabelli Guido, Barla Jorge, Sancineto Carlos
Journal: Case Rep Orthop (2015)

Posterior and anterior fusion procedures with instrumentation are well-known surgical treatments for scoliosis. Rod migration has been described as unusual complication in anterior spinal instrumentations; migration beyond pelvis is a rare complication. A 32-year-old female presented to the consultant with right thigh pain, rod migration was diagnosed, rod extraction by minimal approach was performed, and spinal instrumentation after nonunion diagnosis was underwent. A rod migration case to the right thigh is presented; this uncommon complication of spinal instrumentation should be ruled out as unusual cause of sudden pain without any other suspicions, and long-term follow-up is important to prevent and diagnose this problem.
Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
Authors: Yoh Fujimoto, Yuki Taniguchi, Yasushi Oshima, Yoshitaka Matsubayashi, Keita Okada, Nobuhiko Haga, Sakae Tanaka
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.
Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review
Authors: Chih-Hong Lee, Chin-Song Lu, Wen-Li Chuang, Tu-Hsueh Yeh, Shih-Ming Jung, Chia-Ling Huang, Szu-Chia Lai
Journal: ScientificWorldJournal (2013)
MeSH terms: Asian People / genetics, Genotype, Pantothenate Kinase-Associated Neurodegeneration / genetics, Pantothenate Kinase-Associated Neurodegeneration / pathology, Phenotype, White People / genetics, Case Reports, Research Support, Non-U.S. Gov't, Review, Adult, Autopsy, Brain / metabolism, Brain / pathology, Electromyography, Fatal Outcome, Genetic Association Studies, Heterozygote, Humans, Iron / metabolism, Male, Mutation, Pantothenate Kinase-Associated Neurodegeneration / diagnosis, Phosphotransferases (Alcohol Group Acceptor) / genetics, Phosphotransferases (Alcohol Group Acceptor) / metabolism, Young Adult, Iron, Phosphotransferases (Alcohol Group Acceptor), pantothenate kinase

Objectives:
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN.
Methods:
Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations.
Results:
We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations--lower prevalence of pyramidal signs, mental impairment, and parkinsonism--than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians.
Conclusions:
Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.
A Dual Biomechanical Failure: Exeter Stem and Pubic Rami Insufficiency Fracture, following Hybrid Total Hip Arthroplasty
Authors: Inderpaul Samra, Christos Paliobeis
Journal: Case Rep Orthop (2015)

Introduction. Incidence of Exeter stem fracture is extremely uncommon. Pubic rami insufficiency fractures following arthroplasty are also rare. To our knowledge no cases of spontaneous stem failure with previous insufficiency fractures have yet been reported. Case Presentation. This report describes a case of spontaneous fracture through a cemented Exeter stem in a 66-year-old patient who had previously undergone a hybrid total hip replacement and was found to have bifocal pubic rami insufficiency fractures. The patient presented 18-year postprimary surgery with spontaneous fracture of the middle third of the cemented femoral stem and adjacent proximal femur. Conclusion. This report demonstrates a unique case of Exeter stem fracture with previous pelvic insufficiency fractures. The case adds to the rare occurrences of Exeter stem failure in the literature and highlights the risk of potential insufficiency fractures in patients undergoing total hip replacement.
Bilateral Testicular Infarction from IgA Vasculitis of the Spermatic Cords
Authors: Mazen Toushan, Ashka Atodaria, Stephen D Lynch, Hassan D Kanaan, Limin Yu, Mitual B Amin, Mamon Tahhan, Ping L Zhang, Paul S Kellerman, Abhishek Swami
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

A 51-year-old man with type 2 diabetes mellitus and chronic obstructive pulmonary disease presented to the emergency room with increasing bilateral leg pain, rash, and scrotal swelling with pain. Skin biopsy from his thigh revealed IgA-associated vasculitis. Due to hematuria, a renal biopsy was performed and showed an IgA glomerulonephritis with focal fibrinoid necrosis and neutrophil accumulation. Bilateral orchiectomies were performed in two separate procedures ten and thirteen days after the renal biopsy, as a result of uncontrolled abscess formation in testicles. Microscopically, both testicles revealed large abscess formation destroying almost the entire testicular parenchyma without tumor cells. Spermatic cord margins were further scrutinized microscopically to show bilateral vasculitis in many small size vessels, confirmed by positive endothelial staining for IgA. Some of the affected arteries revealed central organizing thrombi with recanalization features, highly suggestive of vasculitis-associated thrombi formation, resulting in testicular ischemic infarction and abscess formation. We conclude that this adult patient developed a severe form of Henoch-Schönlein purpura, with vasculitis affecting multiple organs, including the most serious and unusual complication of bilateral testicular infarction.
Epiphysiolysis Type Salter I of the Medial Clavicle with Posterior Displacement: A Case Series and Review of the Literature
Authors: C Siebenmann, F Ramadani, G Barbier, E Gautier, P Vial
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Physeal fractures of the medial clavicle with posterior displacement of the metaphysis are very rare injuries, but additional injuries can be life-threatening. Due to the specific clavicular ossification process, skeletally immature patients present usually not true sternoclavicular joint (SCJ) dislocations accordingly to adults but rather displaced physeal fractures. There is no consensus in the current literature on the best treatment of this lesion. Conservative treatment is not resulting in good outcome; closed reduction is often not successful, and open reduction with internal fixation is finally required. Several methods are described for stabilizing these physeal fractures. We treated three osseous immature patients with this lesion. Due to the small dimension of the medial clavicular epiphysis, we performed in one case a transosseous figure-of-eight suture of the clavicular metaphysis towards the sternum, and in the two other cases, a transosseous suture from the clavicular metaphysis on the anterior clavicular periosteum. The latter technique avoids harm to the small epiphysis or the SCJ and minimizes the risk of retrosternal complications.
Case report: Primary intracranial EWs/PNET in adults: Clinical experience and literature review
Authors: Xianwen Hu, Qi Huang, Ju Wang, Dandan Li, Pan Wang, Jiong Cai
Journal: Front Oncol (2022)
Keywords: ews/pnet, ewing sarcomas, pet/ct, intracranial, magnetic resonance imaging, primitive neuroectodermal tumors
MeSH terms: Case Reports

Introduction:
Adult primary intracranial Ewing sarcomas (EWs)/primitive neuroectodermal tumors (PNETs) are extremely rare, with only 30 patients published before us. The imaging features and treatment strategies of primary intracranial EWs/PNETs are unclear due to its rarity. The aim of this study was to investigate the clinical features, imaging findings, treatment, survival analysis, and prognosis of adult EWs/PNETs, and a systematic review was conducted based on the patient we treated and published literature.
Case description:
A 19-year-old male patient suffered from head pain due to an accidental fall on a motorcycle that occurred more than 10 days before going to the hospital, and underwent computed tomography (CT) examination; it was found that the left temporo-occipital fossa was occupied. Magnetic resonance imaging (MRI) was recommended to understand the nature of the lesion, and the result showed that it has a high probability of being a meningioma. He underwent surgical removal of the mass under general anesthesia, and surprisingly, postoperative pathology revealed EWs/PNET. The disease has a high degree of malignancy, and the patient developed multiple metastases throughout the body 5 years after surgery.
Conclusion:
Primary intracranial EWs/PNETs in adult patients are rare, of which imaging findings should be considered as one of the differential diagnoses of meningioma, hemangiopericytoma, and malignant triton tumor. Larger solid-cystic masses with septum-like enhancement may be relatively specific imaging findings of intracranial EWs/PNETs. The prognosis of primary adult intracranial EWs/PNETs is poor. Radical tumor resection combined with radiotherapy and chemotherapy is currently the main and possibly the most effective treatment method.
Decreased Rivaroxaban Levels in a Patient with Cerebral Vein Thrombosis Receiving Phenytoin
Authors: Ana F Becerra, Tomas Amuchastegui, Aldo H Tabares
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Combined use of antiepileptic drugs and anticoagulants is common. We describe the first case documenting laboratory interaction between rivaroxaban and phenytoin. A 48-year-old woman was admitted to our hospital due to cerebral venous thrombosis, bilateral pulmonary embolism, and deep vein thrombosis. She came from a small town with difficult access to warfarin monitoring. She was receiving phenytoin 100 mg three times daily (t.i.d.) and started enoxaparin 60 mg twice daily (b.i.d.). An abdominal mass was diagnosed and removed by laparoscopy (gastrointestinal stromal tumor). On day 5, she was switched to rivaroxaban 15 mg b.i.d. First peak anti-Factor Xa was 70 ng/ml (reference value: 100-300 ng/ml). She was discharged on rivaroxaban 15 mg b.i.d. and phenytoin 100 mg t.i.d. A week later, anti-Xa levels were 90 ng/ml. Due to concerns about thrombosis progression, she was switched to dabigatran. During follow-up, she remained asymptomatic and thrombin time >180 s was measured several times along 3 months as surrogate for dabigatran activity. Phenytoin is a combined CYP3A4 and P-glycoprotein inducer, which might reduce rivaroxaban levels. Dabigatran is substrate of P-glycoprotein, meaning potential malabsorption. Despite unavailability of plasmatic dabigatran essays, our patient improved her symptoms without further symptomatic thromboembolism. Facing these interactions, either monitoring serum levels of anticoagulants or other therapeutic options should be considered.
Carbamazepine Toxicity Masquerading as Complex Febrile Seizures in a Pediatric Patient
Authors: Richard J Chen, Muhammad Ershad, Maricel Dela Cruz, Ahmed Mamdouh Taha Mostafa
Journal: Case Rep Emerg Med (2020)
MeSH terms: Case Reports

Carbamazepine is an antiepileptic drug that can cause seizures in overdose. In certain patient populations, this may be misdiagnosed as a seizure disorder. We describe a case of a 20-month-old female who presented with fever and seizure-like activity who was initially thought to have complex febrile seizures. Further historical information prompted carbamazepine level to be checked, which was found to be 29 mcg/ml (therapeutic range of 4-12 mcg/ml). Her carbamazepine levels downtrended with multidose activated charcoal. Her condition improved, and she was discharged without evidence of permanent neurologic sequelae. This case illustrates that xenobiotic exposure should often be considered, even if historical clues are not present, as they can often present as other conditions leading to misdiagnosis and delayed treatment.
Pneumococcal meningitis in a patient with severe COVID-19 on dexamethasone and tocilizumab: A case report
Authors: Yoshiaki Murayama, Tomohiko Ishimine, Mikio Sasano, Takafumi Todaka, Takashi Matsumoto, Taiga Shimabukuro, Risa Yonaha
Journal: IDCases (2023)
Keywords: covid-19, meningitis, sars-cov-2, secondary-infection, streptococcus pneumoniae, tocilizumab
MeSH terms: Case Reports

Although various therapeutic agents have been tried for coronavirus disease-2019 (COVID-19) and evidence has accumulated, the risk of secondary infection is increased by underlying disease and immunosuppressive drugs. We report a case of pneumococcal meningitis in a patient with severe COVID-19 who was receiving dexamethasone and tocilizumab. The patient's symptoms improved with appropriate diagnosis and antimicrobial therapy, and she fortunately returned to society without any neurological sequelae of meningitis.
Mistletoe treatment in cancer-related fatigue: a case report
Authors: Kathrin Wode, Thomas Schneider, Ingrid Lundberg, Gunver S Kienle
Journal: Cases J (2009)

Cancer-related fatigue (CRF) is a major and very common disabling condition in cancer patients. Treatment options do exist but have limited therapeutic effects. Mistletoe extracts are widely-used complementary cancer treatments whose possible impact on CRF has not been investigated in detail. A 36-year-old Swedish woman with a 10-year history of recurrent breast cancer, suffering from severe CRF, started complementary cancer treatment with mistletoe extracts. Over two and a half years a correspondence was observed between the intensity of mistletoe therapy and the fatigue. Mistletoe extracts seemed to have a beneficial, dose-dependent effect on CRF. Although such effect has also been noted in clinical studies, it has never been the subject of detailed investigation. More research should clarify these observations.