OpenMed/multicare-articles huggingface dataset:
Ketogenic Metabolic Therapy, Without Chemo or Radiation, for the Long-Term Management of IDH1-Mutant Glioblastoma: An 80-Month Follow-Up Case Report
Authors: Thomas N Seyfried, Aditya G Shivane, Miriam Kalamian, Joseph C Maroon, Purna Mukherjee, Giulio Zuccoli
Journal: Front Nutr (2021)
Keywords: 2-hydroxyglutarate, carnivore diet, fasting, glutaminolysis, glycolysis, mitochondrial substrate level phosphorylation (mslp), standard of care
MeSH terms: Case Reports

Background: Successful treatment of glioblastoma (GBM) remains futile despite decades of intense research. GBM is similar to most other malignant cancers in requiring glucose and glutamine for growth, regardless of histological or genetic heterogeneity. Ketogenic metabolic therapy (KMT) is a non-toxic nutritional intervention for cancer management. We report the case of a 32-year-old man who presented in 2014 with seizures and a right frontal lobe tumor on MRI. The tumor cells were immunoreactive with antibodies to the IDH1 (R132H) mutation, P53 (patchy), MIB-1 index (4-6%), and absent ATRX protein expression. DNA analysis showed no evidence of methylation of the MGMT gene promoter. The presence of prominent microvascular proliferation and areas of necrosis were consistent with an IDH-mutant glioblastoma (WHO Grade 4). Methods: The patient refused standard of care (SOC) and steroid medication after initial diagnosis, but was knowledgeable and self-motivated enough to consume a low-carbohydrate ketogenic diet consisting mostly of saturated fats, minimal vegetables, and a variety of meats. The patient used the glucose ketone index calculator to maintain his Glucose Ketone Index (GKI) near 2.0 without body weight loss. Results: The tumor continued to grow slowly without expected vasogenic edema until 2017, when the patient opted for surgical debulking. The enhancing area, centered in the inferior frontal gyrus, was surgically excised. The pathology specimen confirmed IDH1-mutant GBM. Following surgery, the patient continued with a self-administered ketogenic diet to maintain low GKI values, indicative of therapeutic ketosis. At the time of this report (May 2021), the patient remains alive with a good quality of life, except for occasional seizures. MRI continues to show slow interval progression of the tumor. Conclusion: This is the first report of confirmed IDH1-mutant GBM treated with KMT and surgical debulking without chemo- or radiotherapy. The long-term survival of this patient, now at 80 months, could be due in part to a therapeutic metabolic synergy between KMT and the IDH1 mutation that simultaneously target the glycolysis and glutaminolysis pathways that are essential for GBM growth. Further studies are needed to determine if this non-toxic therapeutic strategy could be effective in providing long-term management for other GBM patients with or without IDH mutations.
Sneathia amnii bacteraemia and chorioamnionitis leading to second trimester abortion: a case report
Authors: Lien Gruwier, Aaron Sprenkels, Sofie Hulsbosch, Anne Vankeerberghen, Reinoud Cartuyvels
Journal: Access Microbiol (2021)
Keywords: 16s rrna gene sequencing, sneathia amnii, blood culture, septic abortion
MeSH terms: Case Reports

Background:

Sneathia amnii (formerly designated as Leptotrichia amnionii ) was first described in 2002 in the USA. Members of the genus Sneathia can be part of the normal flora of the genitourinary tract, but have been implicated in invasive (mostly gynaecological) infections.
Case presentation:
To the best of our knowledge, here we present the first case of S. amnii infection in Belgium, in a young woman presenting with fever leading to second trimester septic abortion.
Conclusion:
Despite its pathogenicity, S. amnii remains an underrated cause of infections due to inherent difficulties with conventional laboratory methods. By extracting the bacterial DNA directly from the blood culture broth and performing a 16S ribosomal RNA gene sequence analysis we succeeded in identifying S. amnii as the most probable cause of the septic abortion in our patient.
Case Report: Giant Congenital Left Atrial Appendage Aneurysm Presenting With Acute Massive Cerebral Infarction and Refractory Atrial Fibrillation: A Case Report and Literature Review
Authors: Rui Li, Fei Ma, Han Xiong Guan, Yue Ying Pan, Li Gang Liu, Dao Wen Wang, Hong Wang
Journal: Front Cardiovasc Med (2022)
Keywords: acute cerebral infarction, atrial fibrillation, case report, echocardiography, left atrial appendage aneurysm
MeSH terms: Case Reports

Background:
Congenital left atrial appendage aneurysm (LAAA) is a rare cardiac anomaly with a variety of presentations, from being asymptomatic to potentially serious complications such as systemic thromboembolism and atrial tachyarrhythmia.
Case presentation:
We report a case of congenital giant LAAA in a 35-year-old man presenting with acute massive cerebral infarction and atrial fibrillation (AF) with rapid ventricular rate. The AF was refractory to conventional antiarrhythmic agents, such as amiodarone and electrical cardioversion, but restored and maintained sinus rhythm after surgical resection of LAAA. The patient remained free of events and was in sinus rhythm during half-year follow-up.
Conclusion:
Giant LAAA has the potential causing serious complications and should be managed surgically in most cases.
Case report: CD38-directed CAR-T cell therapy: A novel immunotherapy targeting CD38- positive blasts overcomes TKI and chemotherapy resistance of myeloid chronic myeloid leukemia in blastic phase
Authors: Qingya Cui, Peiqi Liang, Haiping Dai, Wei Cui, Mengjie Cai, Zixuan Ding, Qinfen Ma, Jia Yin, Zheng Li, Sining Liu, Liqing Kang, Li Yao, Jiannong Cen, Hongjie Shen, Mingqing Zhu, Lei Yu, Depei Wu, Xiaowen Tang
Journal: Front Immunol (2022)
Keywords: cd38, blast phase, chimeric antigen receptor t cell, chronic myeloid leukemia, tyrosine kinase inhibitor
MeSH terms: Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy, Receptors, Chimeric Antigen / genetics, Receptors, Chimeric Antigen / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Cell- and Tissue-Based Therapy, Drug Resistance, Neoplasm / genetics, Humans, Immunotherapy, Protein Kinase Inhibitors / pharmacology, Protein Kinase Inhibitors / therapeutic use, Receptors, Chimeric Antigen, Protein Kinase Inhibitors

Resistance to tyrosine kinase inhibitor (TKI) is a tough problem in the treatment of chronic myeloid leukemia in blastic phase (CML-BP), which was often associated with acquired mutations in the kinase domain and not eliminating the leukemic stem cells. The efficacy of TKI or combination with chemotherapy in CML-BP remains unsatisfactory. Chimeric antigen receptor T (CAR-T) cell immunotherapy may overcome TKI and chemotherapy resistance. However, lack of ideal targetable antigens is a major obstacle for treating patients with myeloid malignancies. CD38 is known to be expressed on most (acute myeloid leukemia) AML cells, and its lack of expression on hematopoietic stem cells renders it as a potential therapeutic target for myeloid CML-BP. We develop a CD38-directed CAR-T cell therapy for AML, and two patients with myeloid CML-BP were enrolled (NCT04351022). Two patients, harboring E255K and T315I mutation in the ABL kinase domain, respectively, were resistant to multiple TKIs (imatinib, dasatinib, nilotinib, and ponatinib) and intensive chemotherapy. The blasts in the bone marrow of two patients exhibited high expression of CD38. After tumor reduction chemotherapy and lymphodepletion chemotherapy, 1 × 107 CAR-T-38 cells per kilogram of body weight were administered. They achieved minimal residual disease-negative and BCR::ABL1-negative complete remission and experienced grade II cytokine release syndrome manifesting as fever. Our data highlighted that CAR-T-38 cell therapy may overcome TKI and chemotherapy resistance in patients with myeloid CML-BP.
De Novo Esophageal Carcinoma in Post-liver Transplant Patient
Authors: A H Tank, V K Sutariya, P R Modi
Journal: Int J Organ Transplant Med (2014)
Keywords: carcinoma, esophageal neoplasms, esophageal squamous cell carcinoma, humans, liver transplantation, liver diseases, neoplasms, tobacco use, alcoholic, squamous cell
MeSH terms: Case Reports

De novo esophageal malignancy following liver transplantation is very rare. Esophageal squamous cell carcinoma following liver transplant is closely associated with history of alcohol intake and tobacco chewing. We report on a 45-year-old man, chronic tobacco chewer and alcoholic who underwent liver transplantation for alcoholic cirrhosis and developed esophageal squamous cell carcinoma 23 months following the procedure. He was treated surgically and has had a tumor-free survival after 34 months of regular follow-up.
Regression of Hypervascular Nodules in a Patient with Wilson's Disease Awaiting Liver Transplantation
Authors: Alcindo Pissaia, Hervé Gouya, Olivier Scatton, Filoména Conti, Yvon Calmus
Journal: J Transplant (2009)
MeSH terms: Case Reports

This paper describes the regressive course over one year of hypervascular nodules in a patient with Wilson's disease. CT revealed multiple, enhancing nodules (up to 3 cm in diameter) detected in the liver in the early arterial phase after the administration of intravenous contrast material. Most of these nodules became isodense in the portal venous phase. After one year of efficient therapy combining d-penicillamine and zinc acetate, most of the nodules had disappeared, while the liver contours had become more regular. To our knowledge, the regression of large hypervascular nodules has not previously been reported in patients with Wilson's disease.
Metastatic adenocarcinoma after laparoscopic supracervical hysterectomy with morcellation: A case report
Authors: Taylor Turner, Angeles Alvarez Secord, William J Lowery, Gregory Sfakianos, Paula S Lee
Journal: Gynecol Oncol Case Rep (2013)
Keywords: disseminated malignancy, laparoscopic hysterectomy, uterine morcellation

•Uterine morcellation is common in minimally invasive hysterectomy but should be performed with caution due to risk of unsuspected malignancy.•Intraoperative techniques should be considered to minimize dissemination of endometrial tissue during morcellation.•Strategies to ensure accurate pathologic evaluation of morcellated specimens and to improve preoperative risk stratification before morcellation procedures are necessary.
Protocol: New approaches to managing the social deficits of Turner Syndrome using the PEERS program
Authors: Jeanne Wolstencroft, William Mandy, David Skuse
Journal: F1000Res (2018)
Keywords: peers, sex chromosome aneuploidy, social skills, social skills training, turner syndrome
MeSH terms: Research Support, Non-U.S. Gov't

Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. Recent clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention programme be trialled in this population. PEERS has been successfully used in adolescents with autism spectrum conditions without intellectual disabilities. The PEERS program will be piloted with adolescents and young women with TS aged 16-20 using an uncontrolled study trial with a multiple-case series design. The program will be delivered face to face and online. The assessment battery is designed to measure social skills comprehensively from diverse informants (parent, teacher young person). It includes measures of social performance, social knowledge and social cognition. Parents and young people taking part in the intervention will also feedback on the acceptability and feasibility of the pilot. The outcomes of this small scale pilot (n=6-10) will be used to adapt the programme based on feedback and estimate the sample for a future randomised controlled trial.
Riedel's lobe of the liver: a case report
Authors: Christos Savopoulos, Nikolaos Kakaletsis, Georgia Kaiafa, Fotios Iliadis, Anna Kalogera-Fountzila, Apostolos I Hatzitolios
Journal: Medicine (Baltimore) (2015)
MeSH terms: Diagnostic Imaging / methods, Incidental Findings, Liver / abnormalities, Case Reports, Aged, Arthroplasty, Replacement, Hip, Diagnosis, Differential, Female, Humans, Hypergammaglobulinemia / etiology, Liver / diagnostic imaging, Prosthesis-Related Infections / complications, Reoperation, Tomography, X-Ray Computed, Ultrasonography

Riedel lobe of the liver is a simple anatomical variation, a downward tongue-like projection of the anterior edge of the right lobe of the liver to the right of the gallbladder with its typical case to be rare.We report the case of a 71-year-old woman with typical feature of a nonpalpable Riedel's lobe of the liver, as an incidental finding who was referred for reported hypergammaglobulinemia (22.7% [9%-19%]). Both features were attributed to a chronic inflammation because of an abscess in the right iliopsoas caused by infection due to bilateral hip replacement which underwent revision surgery. This was confirmed by her medical history, the imaging findings combined with elevated C-reactive protein, and by cross-reaction weak positive autoantibodies.Generally, knowledge or suspicion of Riedel's lobe of the liver is important, as it does not always remain clinically latent, as in our case, and it can be complicated by its torsion or hepatic tumors.
Lateral Intercostal Artery Perforator Flap to Treat Pure Cutaneous Recurrence After Breast-Conserving Surgery: A Case Report
Authors: Gabriella Savage, E-Ern Ian Ng, Eric Donaldson
Journal: Cureus (2023)
Keywords: bcs, breast cancer, cutaneous recurrence, licap flap, surveillance
MeSH terms: Case Reports

Pure cutaneous recurrence after breast-conserving surgery is rare and presents a unique challenge to clinicians. Some carefully selected patients may be amenable to further breast-conserving therapy. We present the case of a 45-year-old female with a cutaneous recurrence of previously treated right breast cancer along the operative scar in the upper outer quadrant. The patient underwent a further wide local excision with lateral intercostal artery perforator flap with a skin paddle reconstruction. We achieved volume replacement with this technique, disease control, and a pleasing cosmetic result.
The Heart Block Hat-Trick: A Case of Alternating First-, Second-, and Third-Degree Heart Blocks
Authors: Nicholas Huerta, Salman Malik, Christopher Haas
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Idiopathic third-degree atrioventricular (AV) block in a relatively young patient is an uncommon phenomenon. Even more rare is when the third-degree heart block is alternating with the first- and second-degree AV blocks. In this case, we present a 39-year-old man with varying degrees of AV block, alternating the third-degree, second-degree, and first-degree AV blocks. The patient underwent an extensive workup for underlying etiologies, and results were inconclusive. A pacemaker was implanted and set for physiologic pacing via left bundle branch area pacing (LBBAP). This case will discuss potential genetic abnormalities associated with AV block and highlight LBBAP as an emerging technique for physiologic pacing.
Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome
Authors: Marisabel Magnifico, Diana Cassi, Ilda Kasa, Marco Di Blasio, Alberto Di Blasio, Mauro Gandolfini
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The authors report a combined orthodontic-surgical correction of an adult patient's malocclusion affected by Moebius Syndrome (MS). The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic mobility with smile surgery. The postoperative stability and orthodontic results were good and the correction of the morphological problems related to the syndrome was very satisfactory.
Bone Marrow Burkitt Lymphoma in a Child
Authors: Matija Knežić, Irena Seili Bekafigo, Jelena Roganović, Ita Hadžisejdić, Nives Jonjić
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Burkitt lymphoma (BL) is a highly aggressive but potentially curable disease as long as adequately treated within due time. BL may occur primarily and exclusively in the bone marrow as a form of peripheral and extranodal disease. BL cases with isolated bone marrow involvement are challenging in regard to a prompt diagnostic process. We report a case of a sporadic extranodal subtype of isolated bone marrow BL in an 11-year-old boy. Bone marrow aspiration and biopsy, flow cytometry, and immunohistochemistry along with cytogenetics are compulsory in order to achieve the adequate diagnosis.
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
Authors: Eduardo de la Fuente-Munoz, Ana Van Den Rym, Blanca García-Solis, Juliana Ochoa Grullón, Kissy Guevara-Hoyer, Miguel Fernández-Arquero, Lucía Galán Dávila, Jorge Matías-Guiú, Silvia Sánchez-Ramón, Rebeca Pérez de Diego
Journal: Front Immunol (2022)
Keywords: stim1, calcium signalling, gain of function, infection, myopathy
MeSH terms: Dyslexia / genetics, Ichthyosis / genetics, Myopathies, Structural, Congenital / genetics, Case Reports, Research Support, Non-U.S. Gov't, Blood Platelet Disorders, Calcium / metabolism, Child, Erythrocytes, Abnormal, Gain of Function Mutation, Humans, Migraine Disorders, Miosis / genetics, Muscle Fatigue, Mutation, Neoplasm Proteins / genetics, Spleen / abnormalities, Stromal Interaction Molecule 1 / genetics, Neoplasm Proteins, STIM1 protein, human, Stromal Interaction Molecule 1, Calcium, Stormorken Syndrome

Gain-of-function (GOF) mutations in STIM1 are responsible for tubular aggregate myopathy and Stormorken syndrome (TAM/STRMK), a clinically overlapping multisystemic disease characterised by muscle weakness, miosis, thrombocytopaenia, hyposplenism, ichthyosis, dyslexia, and short stature. Several mutations have been reported as responsible for the disease. Herein, we describe a patient with TAM/STRMK due to a novel L303P STIM1 mutation, who not only presented clinical manifestations characteristic of TAM/STRMK but also manifested immunological involvement with respiratory infections since childhood, with chronic cough and chronic bronchiectasis. Despite the seemingly normal main immunological parameters, immune cells revealed GOF in calcium signalling compared with healthy donors. The calcium flux dysregulation in the immune cells could be responsible for our patient's immune involvement. The patient's mother carried the mutation but did not exhibit TAM/STRMK, manifesting an incomplete penetrance of the mutation. More cases and evidence are necessary to clarify the dual role of STIM1 in immune system dysregulation and myopathy.
Combined use of Ilizarov external fixation and Papineau technique for septic pseudoarthrosis of the distal tibia in a patient with diabetes mellitus
Authors: Stefanos D Koutsostathis, Panagiotis Lepetsos, Vasilios D Polyzois, Spyros G Pneumaticos, George A Macheras
Journal: Diabet Foot Ankle (2014)
Keywords: ilizarov, papineau technique, external fixation, infection, non-union, tibia
MeSH terms: Case Reports

The surgical treatment of open pilon fractures has a high complication rate especially in diabetic patients. In this article, we present a case of an infected tibial non-union after an open reduction and internal fixation in a diabetic patient, treated with Ilizarov external fixation combined with Papineau technique. Combined use of external fixation and Papineau technique can provide an alternative option for the treatment of septic pseudoarthrosis of the distal tibia.
Case Report: A Case Report and Literature Review on Severe Bullous Skin Reaction Induced by anti-PD-1 Immunotherapy in a Cervical Cancer Patient
Authors: Xiang Li, Li-Xin Qu, Yu-Mei Ren, Chang Hu
Journal: Front Pharmacol (2021)
Keywords: pd-1, case report, cervical cancer, literature review, severe bullous skin reactions, toxic epidermal necrolysis
MeSH terms: Case Reports

Background: Anti-programmed cell death protein 1 (PD-1) has been successfully used in carcinomas treatment. However, it causes significant adverse effects (AEs), including cutaneous reactions, particularly the life-threatening severe bullous skin reactions (SBSR) and toxic epidermal necrolysis (TEN). Case summary: Herein, we described for the first time a case report of SBSR induced by anti-PD-1 therapy in a cervical cancer patient. In addition, we revised existing literature on anti-PD-1 induced cutaneous reactions. We reported a cervical cancer patient who was treated with four successive cycles of Sintilimab and Toripalimab injections and developed systemic rashes, bullae, and epidermal desquamation, which worsened and led to infection, eventually causing death after being unresponsive to aggressive treatments. Conclusion: Anti-PD-1 antibodies commonly cause skin toxicity effects, some of which may be deadly. Therefore, healthcare providers should observe early symptoms and administer proper treatment to prevent aggravation of symptoms.
Lumbar Canal Stenosis Caused by Marked Bone Overgrowth after Decompression Surgery
Authors: Hiroya Shimauchi-Ohtaki, Manabu Minami, Toshiyuki Takahashi, Ryo Kanematsu, Fumiaki Honda, Junya Hanakita
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Narrowing of the lumbar canal due to bone regrowth after lumbar decompression surgery generally occurs at the facet joint; it is exceedingly rare for this phenomenon to occur at the laminar arch. Herein, we describe a case of restenosis caused by marked bone overgrowth at the facet joints and laminar arch after lumbar decompression surgery. A 64-year-old man underwent partial hemilaminectomy for lumbar canal stenosis at the L3/L4 level 12 years ago. His symptoms recurred 7 years after the first surgery. Overgrowth of the laminar arch and facet joints was observed at the decompression site. Thus, partial laminectomy of L3 and L4 was performed as a second surgery. Four years after the second surgery, a laminectomy of L3-L4 was performed for bone restenosis and disc herniation. The underlying mechanism of the remarkable overgrowth of the removed lamina remains unclear. Endochondral ossification signals and mechanosignals should be comprehensively examined.
Chemo-free maintenance therapy in adult T-cell acute lymphoblastic leukemia: A case report and literature review
Authors: Yuanbin Song, Shuzhao Chen, Chenfei Liu, Lezong Chen, Weida Wang, Bingyi Wu, Yang Liang
Journal: Front Pharmacol (2023)
Keywords: t-cell acute lymphoblastic leukemia, anti-programmed cell death protein 1, case report, chemo-free maintenance therapy, histone deacetylase inhibitor, literature review
MeSH terms: Case Reports

Maintenance therapy in adult T-cell acute lymphoblastic leukemia (T-ALL) is the longest phase but with limited option. The classic drugs used in the maintenance phase such as 6-mercaptopurine, methotrexate, corticosteroid and vincristine have potentially serious toxicities. Optimizing therapy in the modern age, chemo-free maintenance therapy regimens for patients with T-ALL may dramatically improve the maintenance therapeutic landscape. We report here the combination of Anti-programmed cell death protein 1 antibody and histone deacetylase inhibitor as chemo-free maintenance treatment in a T-ALL patient with literature review, thus providing a unique perspective in addition to valuable information which may inform novel therapeutic approaches.