OpenMed/multicare-articles huggingface dataset:
Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review
Authors: Ahmed Noor Eddin, Mohammed Al-Rimawi, Feham Peer-Zada, Khalid Hundallah, Amal Alhashem
Journal: Front Neurol (2023)
Keywords: covid-19, sars-cov-2, tlr7, case report, genetics, hemizygous, immunodeficiency, neurological deterioration
MeSH terms: Case Reports

The neurological complications of coronavirus disease 2019 (COVID-19) can range from simple tremors and dystonia to features of encephalopathy. Toll-like receptor 7 (TLR7) belongs to a family of innate immune receptors responsible for viral RNA detection (such as SARS-CoV-2) and immune response initiation. TLR7 loss of function variants have been previously reported as genetic risk factors for severe COVID-19 infection in young patients with no comorbidities. In this case, we report a pediatric patient who developed severe long-term neurological deterioration following his COVID-19 infection. Presenting first to the clinic with episodic dystonia and finger spasticity, the patient's condition rapidly deteriorated with a significant drop in the Glasgow Coma Scale (GCS). Despite improvement following initial treatment with rituximab and intravenous immunoglobulin, the patient's symptoms relapsed, and GCS further dropped to 3/15. Serial brain magnetic resonance imaging scans revealed diffuse parenchymal atrophy, ventricular enlargement, and spinal cord thickening. Autoimmune investigations were negative but clinical whole genome sequencing prioritized four gene variants, the most significant of which was a novel frameshift null variant of the X chromosomal TLR7 gene (c.1386_1389dup, p.[His464Ilefs*7]). This case illustrates a role for TLR7 in long-term COVID-19 complications and highlights that TLR7 deficiency in the future may be addressed as a therapeutic measure.
Lichenoid mucocutaneous reactions associated with sintilimab therapy in a non-small cell lung adenocarcinoma patient: case report and review
Authors: Shuting Zhou, Zhenyu Zhang, Xiaodong Feng, Chengjian Zhao, Lu Jiang
Journal: Front Pharmacol (2023)
Keywords: pd-1 inhibitor, sintilimab therapy, immune checkpoint inhibitors (icis), immune-related adverse events (iraes), lichenoid reactions, mucocutaneous reactions, non-small cell lung adenocarcinoma
MeSH terms: Case Reports

The immune checkpoint inhibitor (ICI), anti-programmed cell death receptor-1 (PD-1) antibody, has gained widespread approval for treating various malignancies. Among the immune-related adverse reactions (irAEs) during ICI treatment, the lichenoid reaction is noteworthy. Sintilimab, a new PD-1 inhibitor, has secured approval in China for treating refractory non-Hodgkin's lymphoma, and phase I/II clinical trials for other solid tumors are ongoing both domestically and abroad. This paper presents a case of a mucocutaneous lichenoid reaction associated with sintilimab therapy, its diagnosis, and management. Our study, using multiplex immunofluorescence staining, reveals localized infiltration of CD4+ and CD8+ T lymphocytes in the subepithelial lamina propria region with upregulated PD-1 expression, implying an association between PD-1 expression upregulation and lichenoid reactions provoked by PD-1 monoclonal antibody. We provide a summary of clinical characteristics and treatment guidelines for lichenoid reactions induced by ICIs from previous reports, highlighting the success of a combined therapeutic regimen of oral antihistamines and topical corticosteroids in controlling symptoms without interrupting ICI treatment.
Case Report: A giant right atrial appendage aneurysm in a child
Authors: Yulan Luo, Dou Yuan
Journal: Front Cardiovasc Med (2024)
Keywords: aneurysm, child, giant aneurysm, right atrial appendage, surgical resection
MeSH terms: Case Reports

Right atrial appendage aneurysm is an extremely rare cardiac anomaly. With unclear etiology, there is still no standard treatment method. Clinical symptoms and complications are important indicators for surgical resection. A 2-year-old boy without obvious cardiac symptoms was diagnosed with a giant right atrial outpouching arising from the right atrial appendage by computed tomography. The right atrial outpouching measured approximately 95 × 43 mm. Due to its large size and potential impact on function of right atrium and ventricle, the aneurysm was resected in surgery. During the surgery a 105 × 55 mm noncontractile cystic structure was found locating on the right anterior side of the right atrium. No other abnormalities like intracavity thrombus were detected. The patient was discharged five days after surgery. Postoperative recovery was uneventful.
Case report: Treatment of constrictive epicarditis using the waffle procedure in a dog that had previously undergone a subtotal pericardiectomy
Authors: Rebecca Saunders, Steven Garnett, Brittany Lucchetti, Sophy Jesty
Journal: Front Vet Sci (2024)
Keywords: constrictive, epicarditis, pericardial effusion, pericardiectomy, waffle
MeSH terms: Case Reports

A 10 year-old female spayed German Short-haired Pointer dog weighing 26.8 kg (59 lb) presented with a 2 week history of recurrent ascites. The dog had a 4 year history of idiopathic pericardial effusion causing sporadic episodes of cardiac tamponade and secondary ascites. A subtotal pericardiectomy was performed 3 months prior to presentation. The patient had done well for 2 months following this procedure, at which point the large-volume modified transudate ascites recurred, necessitating abdominocentesis every 10 days. Thoracic and abdominal computed tomography (CT) revealed no abdominal or vascular cause of ascites. Transthoracic echocardiography performed under general anesthesia showed constrictive epicarditis (visceral pericarditis) resulting in diastolic dysfunction and right-sided congestive heart failure. A sternotomy was performed for a pericardial waffle procedure or crosshatch pericardiotomy-scoring of crosshatched incisions into the thickened epicardium. Echocardiographic findings postoperatively were consistent with resolved constrictive epicarditis. At 8 months postoperatively, the dog was clinically normal and had only required one abdominocentesis one month after the waffle procedure. This case report describes the successful treatment of a dog with constrictive epicarditis using a novel surgical technique (waffle procedure) that has not yet been described in veterinary medicine.
Case Report: Early diagnosis and bevacizumab-based chemotherapy for primary pericardial mesothelioma: a case with occupational asbestos exposure history
Authors: Daniel Wang, Yung Hsuan Wang, Sung Chao Chu
Journal: Front Cardiovasc Med (2023)
Keywords: asbestos, bevacizumab, chemotherapy, occupational exposure, primary pericardial mesothelioma
MeSH terms: Case Reports

Background:
Primary pericardial mesothelioma (PPM) is an exceedingly rare malignant cancer and has a poor prognosis, which has been partly attributed to its frequently delayed diagnosis due to its nonspecific syndromes, its similar presentation to benign pericardial diseases, and its non-definitive etiology. In many PPM cases, the time from presentation to definite diagnosis may last for several months or even over one year. Unlike pleural mesothelioma, the relationship between PPM and asbestos exposure remains unsettled. To date, there is no consensus on the treatment of PPM.
Case report:
The patient is a 57-year-old male who had nonspecific syndromes and inconclusive image findings. The occupational long-term asbestos exposure history of this patient raised our concerns regarding potential malignancy when confronted with unexplained pericardial effusion accompanied by cardiac tamponade. The heightened suspicion prompted us to perform pericardiocentesis and biopsy on the third day after admission to our department. An early diagnosis of PPM was established by the pathological and immunohistochemical evaluation of the biopsy specimen two weeks after admission. Positron emission tomography-computed tomography revealed that the lesion was localized at the anterior part of the mediastinum without distant metastasis. This patient refused to receive cardiac surgery. He subsequently underwent six cycles of chemotherapy (cisplatin plus pemetrexed) in combination with bevacizumab (a humanized anti-VEGF antibody) as the first-line treatment, resulting in complete relief of symptoms and satisfactory outcomes with no complications. Four months after the first course, the patient initiated a second course of chemotherapy with a similar regimen, but he opted to discontinue the medical treatment after the initiation of the second course. The patient was transferred to the hospice care unit and unfortunately expired one year after the initial presentation.
Conclusion:
We present a case of an early multidisciplinary clinical approach to diagnose and manage PPM with consideration of occupational asbestos exposure history and clinical symptoms. Bevacizumab-based chemotherapy remains an option for the treatment of PPM.
Systemic juvenile idiopathic arthritis: The Great Ormond Street Hospital experience (2005-2021)
Authors: C M Foley, D McKenna, K Gallagher, K McLellan, H Alkhdher, S Lacassagne, E Moraitis, C Papadopoulou, C Pilkington, M Al Obaidi, D Eleftheriou, P Brogan
Journal: Front Pediatr (2023)
Keywords: il-1 blockade, il-6 blocking, still’s disease, biologic, systemic jia

Systemic juvenile idiopathic arthritis (sJIA) is a complex, systemic inflammatory disorder driven by both innate and adaptive immunity. Improved understanding of sJIA pathophysiology has led to recent therapeutic advances including a growing evidence base for the earlier use of IL-1 or IL-6 blockade as first-line treatment. We conducted a retrospective case notes review of patients diagnosed with sJIA over a 16-year period (October 2005-October 2021) at Great Ormond Street Hospital for Children. We describe the clinical presentation, therapeutic interventions, complications, and remission rates at different timepoints over the disease course. We examined our data, which spanned a period of changing therapeutic landscape, to try and identify potential therapeutic signals in patients who received biologic treatment early in the disease course compared to those who did not. A total of 76-children (female n = 40, 53%) were diagnosed with sJIA, median age 4.5 years (range 0.6-14.1); 36% (27/76) presented with suspected or confirmed macrophage activation syndrome. A biologic disease-modifying anti-rheumatic drug (bDMARD) alone was commenced as first-line treatment in 28% (n = 21/76) of the cohort; however, at last review, 84% (n = 64/76) had received treatment with a bDMARD. Clinically inactive disease (CID) was achieved by 88% (n = 67/76) of the cohort at last review; however, only 32% (24/76) achieved treatment-free CID. At 1-year follow-up, CID was achieved in a significantly greater proportion of children who received treatment with a bDMARD within 3 months of diagnosis compared to those who did not (90% vs. 53%, p = 0.002). Based on an ever-increasing evidence base for the earlier use of bDMARD in sJIA and our experience of the largest UK single-centre case series described to date, we now propose a new therapeutic pathway for children diagnosed with sJIA in the UK based on early use of bDMARDs. Reappraisal of the current National Health Service commissioning pathway for sJIA is now urgently required.
Case Report: Benefits of LSVT LOUD in a multilingual patient with hypokinetic-hyperkinetic dysarthria and suspected progressive supranuclear palsy
Authors: Amanda Sebestyen, Allison Hilger, Holly Kleiber
Journal: Front Rehabil Sci (2024)
Keywords: lee silverman voice treatment (lsvt), dysarthria, multilingual, progressive supranuclear palsy, speech therapies
MeSH terms: Case Reports

Purpose:
This case study measured how well the Lee Silverman Voice Treatment (LSVT) improved vocal features, intelligibility, and communicative effectiveness for a multilingual participant with hypokinetic-hyperkinetic dysarthria secondary to suspected progressive supranuclear palsy. LSVT treatment was chosen for the participant due to the strengths and deficits he presented with prior to treatment, and for the anticipated challenges in treatment that may arise from the presence of multilingualism and impaired cognitive functioning.
Methods:
A multilingual patient in their 60's (English, Spanish, and French) with hypokinetic-hyperkinetic dysarthria secondary to suspected progressive supranuclear palsy completed the standard treatment sessions for LSVT. Assessment measures were taken at baseline, immediately post-treatment, and three-months post-treatment.
Results:
Improvements were measured in vocal quality, vocal loudness, intelligibility, and communicative effectiveness immediately post-treatment. Three months post-treatment, improvements in vocal quality and intelligibility were maintained.
Conclusion:
This case study illustrates that LSVT may be a beneficial treatment for complex clients who are multilingual and present with complex comorbidities and cognitive deficits. LSVT resulted in some meaningful changes in vocal quality, intelligibility, and communicative effectiveness for this individual. Clinicians who work with complex patients may wish to consider the theoretical underpinnings of LSVT, client profile, areas of client need, and ability and desire to complete an intensive treatment program to determine if trialing LSVT is appropriate. The use of LSVT with complex clients may yield positive outcomes.
Case Report: Langerhans cell histiocytosis involving the cervical spine in an adult patient
Authors: Dipak Chaulagain, Volodymyr Smolanka, Andriy Smolanka, Taras Havryliv
Journal: F1000Res (2023)
Keywords: cervical spine, histiocytosis, langerhans cell histiocytosis
MeSH terms: Cervical Vertebrae / diagnostic imaging, Cervical Vertebrae / pathology, Cervical Vertebrae / surgery, Histiocytosis, Langerhans-Cell / complications, Histiocytosis, Langerhans-Cell / diagnosis, Histiocytosis, Langerhans-Cell / pathology, Histiocytosis, Langerhans-Cell / surgery, Case Reports, Adult, Humans, Male, Young Adult

Langerhans Cell Histiocytosis (LCH) is a typically benign disorder that affects infants predominately, with adult occurrence being uncommon. We discuss the case of a 22-year-old guy who visited our clinic complaining of three months of acute nape pain and upper limb radiculopathy. Notably, the patient had no history of trauma, fall injuries, or tuberculosis. Radiological tests identified a single osteolytic lesion within the C3 vertebral body. The lesion was removed, an anterior C3 corpectomy and discectomy were performed, and the patient's spine was reconstructed with a titanium cage and plating. The patient's nape discomfort and radiculopathy vanished almost instantly after surgery. A definitive diagnosis of LCH was confirmed through histological examination. This case report illustrates the unusual and uncommon occurrence of LCH at the C3 vertebral body, for which fusion surgery was the only viable therapeutic option. The patient's recovery from radiating pain following the surgical procedure demonstrates the effectiveness of the intervention. LCH in the cervical spine is rather rare, but it is nevertheless important to be aware of the possibility of developing it.
Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report
Authors: Yikai Liu, Chenkai Li, Zian Zhang, Xinzhe Lu, Haining Zhang
Journal: Front Med (Lausanne) (2023)
Keywords: alkaptonuria, joint pain, ochronotic arthropathy, total hip arthroplasty, total knee arthroplasty
MeSH terms: Case Reports

Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints, which is referred to as ochronotic arthropathy. In this case report, we describe diagnosis and treatment of ochronotic arthropathy in a patient who underwent total hip arthroplasty (THA) and total knee arthroplasty (TKA). The Harris hip score was 26 preoperatively and 45, 68, 76, 90, 92, and 94 at 1, 3, 6, 9, 11, and 14 months, respectively, postoperatively. The forgotten joint score (FJS) of the hip was 27.8, 52.8, 81.1, 89.0, 90.6, and 92.4 at 1, 3, 6, 9, 11, and 14 months, respectively, postoperatively. TKA was performed 8 months after THA. The Knee Society Score was 36 before TKA and 74, 82, and 90 at 1, 3, and 6 months, respectively, after TKA. The FJS of the knee was 36.6, 63.9, and 84.5 at 1, 3, and 6 months, respectively, after TKA. The patient's knee range of motion returned to normal, with significant reduction in pain and improved satisfaction levels after TKA. THA and TKA can achieve good clinical outcomes in patients with ochronosis accompanied by severe joint pain.
Resistant anemia in a kidney transplant recipient: Pure red cell aplasia due to parvovirus B19 infection
Authors: Hassan Choudry, Fateh Chattah, Hilal Shalla, Farooq Ghulam, Saddam Hussain Abbasi, Jorge Jesus-Silva
Journal: Qatar Med J (2024)
Keywords: intravenous immunoglobulin (ivig), pure red cell aplasia (prca), anemia, cyclosporine, immunosuppression, kidney transplant, mycophenolate mofetil, parvovirus b19 infection, renal transplant, tacrolimus
MeSH terms: Case Reports

Anemia in kidney transplant recipients can stem from a diverse array of etiologies, including dietary deficiencies, inflammatory processes, allograft dysfunction, as well as viral and bacterial infections. We present a case of refractory anemia in a 49-year-old male patient occurring within the initial month following a kidney transplant, which persisted despite numerous transfusions, posing a formidable challenge. The patient was maintained on the standard immunosuppressant regimen-Tacrolimus, Mycophenolate, and Prednisolone. Diagnostic evaluations eliminated well-established causes such as dietary deficiencies, gastrointestinal losses, and prevalent infections. Subsequently, after viral PCR testing, a diagnosis of Pure Red Cell Aplasia (PRCA) due to infection with parvovirus B19 was made. Although the patient had a reduction in the immunosuppression drugs and received a course of Intravenous Immunoglobulins (IVIG) on two separate occasions spanning two months, the anemia relapsed. Subsequently, after an additional dose of IVIG with further modification and reduction of the immunosuppressant regimen, including stopping the mycophenolate and switching tacrolimus with cyclosporine, the patient ultimately achieved successful resolution of his symptoms and a significant decrease in viral load. Our case highlights the significance of unconventional etiologies when confronted with anemia in the setting of kidney transplantation. Furthermore, it also provides further insights into therapeutic avenues for addressing PRCA in kidney transplant recipients.
Severe esophagitis induced by antituberculosis drugs: a case report
Authors: Roxana Flores Mamani, Franciele Moreira Silva, Marcos Vidal de Lima-Júnior, Juliana Paitach de Oliveira Lima, Vitor Montez Vianna, Rivelino Trindade de Azevedo, Billy McBenedict, Ezequias Batista Martins
Journal: Rev Inst Med Trop Sao Paulo (2024)
MeSH terms: Esophagitis / chemically induced, Tuberculosis, Pulmonary / drug therapy, Case Reports, Antitubercular Agents / adverse effects, Female, Humans, Middle Aged, Antitubercular Agents

Tuberculosis stands as one of humanity's oldest afflictions, intrinsically intertwined with social disparities. This formidable disease spares no age group and remains the prevailing cause of infection-induced mortality worldwide, particularly in developing nations. We present a case of a 56-year-old woman with diabetes who was diagnosed with Pulmonary Tuberculosis. After receiving antituberculosis drugs as part of her treatment, she experienced a range of systemic manifestations and suffered from severe ulcerative esophagitis. This adverse reaction led to uncontrollable gastrointestinal intolerance, tragically resulting in her untimely demise. The incident underscores the potential seriousness of adverse reactions that can arise from tuberculosis treatment medications.
Management of Primary Infertility: A Comprehensive Approach With Magnetic-Activated Cell Sorting in an Asthenozoospermic Patient
Authors: Princee Tyagi, Akash More, Namrata Chaudhary, Shivani Khemani, Prerana Dagwar
Journal: Cureus (2024)
Keywords: art, icsi, infertility, macs, sperm dna fragmentation
MeSH terms: Case Reports

This report presents the cases of a 34-year-old male and a 29-year-old female who visited a fertility clinic and were experiencing primary infertility for the past three years. No previous medical history was identified in the couple. After a failed attempt of intrauterine insemination, the male partner was diagnosed with asthenozoospermia. A second attempt of intracytoplasmic sperm injection (ICSI) was performed which failed again. Subsequently, magnetic-activated cell sorting (MACS) technique was used as the sperm selection technique. The male patient's sperms were selected through MACS before ICSI. After performing MACS, successful pregnancy was achieved, which resulted in the production of blastocysts and a positive beta-human chorionic gonadotropin test. This case report highlights the prospect of successful results, despite the presence of sperm DNA fragmentation, and a comprehensive strategy for managing infertility issues. Promoting knowledge of lifestyle factors and how they affect fertility remains an essential aspect of comprehensive infertility care.
Case report: Unusual breast cancer metastasis manifesting as a scalp lesion in a patient with invasive lobular carcinoma
Authors: Nam Hee Koh, Ha Yeun Oh
Journal: Front Oncol (2024)
Keywords: cutaneous metastasis, distant metastasis, invasive lobular carcinoma of the breast, metastatic breast cancer, scalp metastasis, scalp nodule
MeSH terms: Case Reports

Breast cancer is the most prevalent cancer in women globally, often leading to distant metastasis in the lung, liver, or bones. Cutaneous metastasis represents an uncommon pattern in breast cancer, but when observed, it tends to manifest in the thorax and upper abdomen, primarily due to lymph node involvement. Therefore, occurrences of cutaneous metastasis on the scalp and extremities are infrequent. Moreover, invasive lobular carcinoma metastasizing to remote skin is rare among the breast cancer. This report presents a case of cutaneous metastasis of invasive lobular carcinoma to the scalp in a patient treated for breast cancer six years ago, with no signs of local recurrence or metastasis to other organs.
Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy
Authors: Sethapong Lertsakulbunlue, Boonsub Sakboonyarat, Piradee Suwanpakdee, Boonchai Boonyawat
Journal: Case Rep Neurol Med (2024)
MeSH terms: Case Reports

Rhabdomyolysis, an emergency medical condition linked to muscle necrosis and intracellular substances released into the bloodstream, significantly endangers military personnel in heat-stress conditions. Rhabdomyolysis can also be an initial presentation in inherited muscle disorders. This study reports a novel case of calpainopathy (LGMDR1) diagnosed in a 19-year-old male military cadet who initially presented with recurrent rhabdomyolysis during training, a rare presentation in LGMD patients. Furthermore, a persistent creatine kinase (CK) elevation was observed at baseline. The diagnosis was confirmed by identifying a compound heterozygous of a novel frameshift, c.606dup (p.Ala203CysfsTer9), a mutation in exon 4, and a missense, c.956C > T (p.Pro319Leu), a mutation in exon 7 of the CAPN3 gene, via whole exome sequencing. This case highlights the necessity of diagnostic investigation in individuals who have persistent high CK levels during the rhabdomyolysis episodes and possibly CK screening prior to military training to preemptively identify and mitigate complications from undiagnosed muscular dystrophies in military personnel in the future.