OpenMed/multicare-articles huggingface dataset:
Case report of renal manifestations in X-linked agammaglobulinemia
Authors: Shuisen Wan, Meiling Cao, Jiahui Zou, Yaojia Bai, Mingyue Shi, Hongkun Jiang
Journal: Front Immunol (2024)
Keywords: x-linked agammaglobulinemia, inborn errors of immunity, primary antibody deficiency, renal disease, tubulointerstitial lesions
MeSH terms: Agammaglobulinemia / complications, Agammaglobulinemia / diagnosis, Agammaglobulinemia / genetics, Genetic Diseases, X-Linked / complications, Genetic Diseases, X-Linked / diagnosis, Genetic Diseases, X-Linked / genetics, Genetic Diseases, X-Linked / immunology, Immunoglobulins, Intravenous / therapeutic use, Case Reports, Child, Child, Preschool, Humans, Male, Immunoglobulins, Intravenous, Bruton type agammaglobulinemia

Introduction:
X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disorder characterized by recurrent infections, severe hypogammaglobulinemia, and a deficiency of circulating B cells. While the hallmark clinical manifestations of XLA typically include the respiratory, dermatological, and gastrointestinal systems, renal involvement is infrequent. In this article, we report two cases of XLA with concurrent renal disease, supplemented with a review of documented cases.
Case description:
The two cases described involve twin brothers, both presenting with respiratory tract infections and renal manifestations. Subsequent genetic testing confirmed the diagnosis of XLA. The younger brother exhibited improvement following intravenous immunoglobulin (IVIG) therapy and anti-infection treatment. Due to financial constraints, the older brother received only anti-infection and symptomatic treatments. Seven months after discharge, the older brother developed nephritis. However, he showed improvement following IVIG treatment.
Conclusion:
Immune profiling and genetic testing should be considered in male children with recurrent infections to facilitate the effective diagnosis of XLA. Regular monitoring is also imperative to detect and treat immune-mediated renal diseases in patients with XLA.
Musculoskeletal Tuberculosis of the Pectoralis With Bilateral Pleural Base Nodular Lesions: A Rare Report of Its Type in an Immunocompetent Female
Authors: Sankalp Yadav
Journal: Cureus (2024)
Keywords: cartridge-based nucleic acid amplification test (cbnaat), culture, muscle tuberculosis, mycobacterium tuberculosis (mtb), pectoralis muscle
MeSH terms: Case Reports

Musculoskeletal tuberculosis is a rare infection caused by Mycobacterium tuberculosis. This type of extrapulmonary tuberculosis is mainly attributed to hematogenous infection or direct inoculation and is usually seen in immunocompromised individuals. Here, a case of musculoskeletal tuberculosis of the right pectoralis with bilateral pleural base nodular lesions in an immunocompetent female is presented. A challenging diagnosis was achieved through a detailed clinical examination, aspiration of the pus, and radiometric investigations. Management was done through antituberculous chemotherapy per the national guidelines. Further, a detailed literature review revealed that tuberculosis of the pectoralis with bilateral pleural base nodular lesions is never reported in an immunocompetent female.
Case report: Preventive infusion of donor-derived CD7 chimeric antigen receptor T cells after allogeneic hematopoietic stem cell transplantation
Authors: Ying Jiang, Dan Feng, Jun Zhu, Daolin Wei, Chuxian Zhao, Huixia Liu, Shan Shao, Chun Wang
Journal: Front Immunol (2024)
Keywords: cd7 car-t, hsct, t-all/lbl, complete remission, preventive infusion
MeSH terms: Antigens, CD7 / immunology, Hematopoietic Stem Cell Transplantation / adverse effects, Immunotherapy, Adoptive / adverse effects, Immunotherapy, Adoptive / methods, Receptors, Chimeric Antigen / immunology, Transplantation, Homologous, Case Reports, Adult, Humans, Male, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / immunology, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / therapy, T-Lymphocytes / immunology, Tissue Donors, Treatment Outcome

Chimeric antigen receptor T cells (CAR T) targeting CD7 for T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) showed promising efficacy and safety in some clinical trials. However, most of them were bridged with allogeneic hematopoietic stem cell transplantation (allo-HSCT). We described successful treatment with preventive donor-derived anti-CD7 CAR-T therapy in a case of refractory T lymphoblastic lymphoma following allo-HSCT, who could not receive autologous anti-CD7 CAR-T products due to the low-quality of T lymphocytes. To date, the patient's complete remission has persisted for 20 months after HSCT.
Aumolertinib: effective treatment for asymptomatic pulmonary giant cell carcinoma with EGFR L858R mutation - a case report
Authors: Wenxing Yang, Ze Yang, Kaiqiang Wang, Peiquan Zhu, Jiangtao Pu
Journal: Front Oncol (2023)
Keywords: egfr mutation, l858r, pgcc, aumolertinib, treatment
MeSH terms: Case Reports

Aumolertinib, as a novel third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI), has been widely employed as a first-line treatment for advanced non-small cell lung cancer (NSCLC) patients with EGFR mutation. However, reports regarding the benefit of using aumolertinib as a monotherapy in pulmonary giant cell carcinoma are relatively scarce. In this report, we present a pulmonary giant cell carcinoma case harboring the EGFR Leu858Arg (L858R) mutation, with the patient at stage cT2bN3M1c IVB. Through the use of autolearning as a single agent, we effectively controlled the progression of pulmonary giant cell carcinoma, achieving a 6-month progression-free survival during the treatment course. Notably, the patient's tumor not only ceased its growth but also continued to shrink, highlighting a significant therapeutic effect. This case reveals the effectiveness of aumolertinib as a monotherapy in controlling disease progression. The finding underscores the therapeutic advantage of aumolertinib in this particular subgroup of patients, offering a novel treatment option for pulmonary giant cell carcinoma.
Maxillary Odontoma Associated With Noonan Syndrome: A Case Report
Authors: Hussam Z Alsalem, Munira Alshahrani, Bader Fatani, Ali A Alshehri, Rana M Almutairi, Raghad F Almuqrin
Journal: Cureus (2024)
Keywords: maxillary odontoma, maxillofacial surgery, noonan syndrome, odontoma, supernumerary teeth
MeSH terms: Case Reports

Noonan syndrome (NS) is a common congenital syndrome characterized by multiple anomalies commonly observed in children. In this article, we describe a case of a patient with congenital heart disease, severe mitral regurgitation, and Nonaan syndrome presented with left maxillary swelling and pain, which was treated by complete surgical excision of the left maxillary odontoma. Based on this case, we conclude that numerous oral abnormalities may be related to NS and thus necessitate interdisciplinary treatment planning and prompt therapy. The importance of including oral manifestations as a scoring criterion in diagnosing NS cannot be overstated, as the significance of oral findings in NS has largely been overlooked.
Innovative ultrasound-guided one-stop surgery for complex cardiovascular cases: a case report
Authors: Meng Zhang, Xinyi Ma, YanHui Li
Journal: J Surg Case Rep (2024)
Keywords: atrial echocardiography, heart septal defects, one-stop surgery, operative transcatheter aortic valve implantation, transesophageal imaging
MeSH terms: Case Reports

Elderly patients with multiple comorbidities often face complex cardiac challenges, including aortic valve issues and atrial septal defects. Traditional open-heart surgery may not be viable for this demographic. Transcatheter aortic valve implantation (TAVI) emerges as a preferred alternative. In this case, a frail patient with multiple comorbidities, atrial septal defect, and significant aortic stenosis and regurgitation underwent a one-stop procedure, combining TAVI and atrial septal defect closure, guided by advanced imaging, including three-dimensional ultrasound. Ultrasound played a pivotal role in the perioperative phase, offering precise screening and guidance. This innovative technique, minimizing surgical trauma and recovery time, significantly improved the patient's quality of life.
Health benefits of bluefin tuna consumption: (Thunnus thynnus) as a case study
Authors: F Chamorro, L Cassani, P Garcia-Oliveira, M Barral-Martinez, A O S Jorge, A G Pereira, Paz Otero, M Fraga-Corral, M Beatriz P P Oliveira, M A Prieto
Journal: Front Nutr (2024)
Keywords: thynnus thunnus, beneficial properties, food safety, nutritional composition, risk-benefit ratio
MeSH terms: Review

Consumers are increasingly interested in food products with high nutritional value and health benefits. For instance, fish consumption is linked with diverse positive health benefits and the prevention of certain widespread disorders, such as obesity, metabolic syndrome, or cardiovascular diseases. These benefits have been attributed to its excellent nutritional value (large amounts of high-quality fatty acids, proteins, vitamins, and minerals) and bioactive compounds, while being relatively low-caloric. Atlantic bluefin tuna (Thunnus tynnus) is one of the most consumed species worldwide, motivated by its good nutritional and organoleptic characteristics. Recently, some organizations have proposed limitations on its consumption due to the presence of contaminants, mainly heavy metals such as mercury. However, several studies have reported that most specimens hold lower levels of contaminants than the established limits and that their richness in selenium effectively limits the contaminants' bioaccessibility in the human body. Considering this situation, this study aims to provide baseline data about the nutritional composition and the latest evidence regarding the beneficial effects of Atlantic bluefin tuna consumption. A review of the risk-benefit ratio was also conducted to evaluate the safety of its consumption, considering the current suggested limitations to this species' consumption.
Case report: Durable response of ensartinib targeting EML4-ALK fusion in osimertinib-resistant non-small cell lung cancer
Authors: Yongkuan Guo, Ran Zhang, Yiran Meng, Li Wang, Liuqing Zheng, Jian You
Journal: Front Pharmacol (2024)
Keywords: eml4-alk, case report, ensartinib, osimertinib, resistance mechanism
MeSH terms: Case Reports

Background:
Despite significant benefits from targeted therapy in patients with driver mutations, inevitable drug resistance usually occurred in non-small cell lung cancer, highlighting the necessity for sequential treatments to prolong overall survival. Unfortunately, durable drug response has not been reported in posterior-line therapy of cases with acquired EML4-ALK fusion after resistance to osimertinib, urging the need of referable decision-making in clinical management.
Case presentation:
We present a case of a 71-year-old Chinese female, never smoker, diagnosed with invasive adenocarcinoma in the left inferior lobe of her lung, with metastases in regional lymph nodes. She received erlotinib treatment after the detection of coexistent EGFR L858R/G719S and BRAF V600E via next-generation sequencing of resected tumor tissue. Routine imaging revealed disease progression approximately 14 months after starting erlotinib treatment, followed by the detection of EGFR L858R through non-invasive liquid biopsy. Subsequently, osimertinib was administered, showing clinical activities for nearly 19 months until the emergence of an EML4-ALK fusion. Given the EML4-ALK fusion, a relatively rare resistance mechanism to osimertinib, she received third-line ensartinib treatment. One month later, alleviated tumor lesions plus normal serum marker levels demonstrated the effectiveness of ensartinib in overcoming resistance to osimertinib. Of note, the clinical response to ensartinib persisted for more than 14 months, superior to the previously reported efficacy of aletinib and crizotinib in osimertinib-failure cases. As of the last follow-up in July 2022, the patient showed no signs of recurrence and maintained a good life quality.
Conclusion:
We reported a third-line ensartinib therapy in a patient with lung adenocarcinoma who developed an acquired EML4-ALK fusion after sequential treatment with erlotinib and osimertinib. Given the rarity of the EML4-ALK fusion as a resistance mechanism to osimertinib, ensartinib emerges as a promising treatment option for this specific clinical challenge, offering superior efficacy and good safety.
Primary Bone Lymphoma of the Spine: A Case Report Highlighting Diagnostic Complexities and Treatment
Authors: Eisuke Tsukamoto, Yoshitaka Nagashima, Yusuke Nishimura, Kyoko Kuwabara, Ryuta Saito
Journal: Cureus (2024)
Keywords: diffuse large b cell lymphoma (dlbcl), pathological vertebral fracture, posterior fixtation, posterior spinal decompression, primary bone lymphoma
MeSH terms: Case Reports

The diagnosis of primary bone lymphoma (PBL) of the spine is challenging due to its nonspecific symptoms and radiographic features. This report details the case of an 81-year-old female who presented with lower limb weakness and thoracic pain, consequent to a vertebral pathological fracture and spinal cord compression. The initial surgical intervention revealed granulomas with caseous necrosis; however, a definitive diagnosis remained elusive. Following a third surgical procedure and further histopathological examination, the patient was finally diagnosed with diffuse large B-cell lymphoma. The therapeutic course following diagnosis involved chemotherapy, resulting in a marked improvement of the symptoms. Previous studies have highlighted the diagnostic difficulties associated with PBL, reporting the frequent need for multiple biopsies to confirm the diagnosis due to the prevalence of necrosis, crush artifacts, or inadequate sample volume. While PBL of the spine has shown responsiveness to chemotherapy and radiation therapy, early surgical intervention is advocated in cases of severe spinal cord compression or vertebral instability. The presented case highlights the importance of making a definitive pathology diagnosis in cases of suspected PBL of the spine.
Microscopic Colitis in a Young Male: Unveiling the Rarity
Authors: Yumna Shahid, Zahabia Sohail, Adeel Urrehman, Zeeshan Uddin
Journal: Cureus (2024)
Keywords: irritable bowel syndrome, microscopic colitis, persistent diarrhea, rare cause of diarrhea, sigmoidoscopy, young adult male
MeSH terms: Case Reports

In recent decades, microscopic colitis (MC) has become increasingly recognized as a common contributor to diarrhea and lower gastrointestinal symptoms, particularly among the older demographic. The condition is distinguished by persistent diarrhea with loose watery stools, and endoscopic examination is typically normal with characteristic histopathologic findings. MC is rarely seen under 30 years of age and is less common in males. Our case highlights an exceedingly uncommon clinical setting as it involves a young male who was diagnosed with collagenous colitis. The diagnosis of MC can easily be missed by physicians during initial evaluation. Specifically in irritable bowel syndrome patients with diarrhea predominant symptoms, a colonoscopy should be performed and biopsies should be taken from the entire colon to rule out MC.
Case report: Primary cardiac lymphoma manifesting as superior vena cava syndrome
Authors: Joseph Kassab, Georges Gebrael, Michel Chedid El Helou, Joseph El Dahdah, Elio Haroun, Rebecca Kassab, Saad Abou Ali, Ziad Khabbaz, Roland Kassab
Journal: Front Cardiovasc Med (2023)
Keywords: cardiac lymphoma, diffuse large b cell lymphoma, lymphoma, primary cardiac lymphoma, superior vena cava syndrome
MeSH terms: Case Reports

A 64-year-old man presented with symptoms indicative of superior vena cava syndrome. Imaging work-up revealed an obstructing right atrial mass, which was subsequently excised and diagnosed as primary cardiac lymphoma. Post-surgery, the patient showed significant clinical improvement and was started on a chemotherapy regimen with complete remission at 1 year.
Case report: Rapid recovery after intrathecal rituximab administration in refractory anti-NMDA receptor encephalitis: report of two cases
Authors: Mahasen Reda, Rosette Jabbour, Asad Haydar, Fatima Jaafar, Nabil El Ayoubi, Omar Nawfal, Ahmad Beydoun
Journal: Front Immunol (2024)
Keywords: anti-n-methyl-d-aspartate receptor, case report, encephalitis, intrathecal rituximab, refractory
MeSH terms: Anti-N-Methyl-D-Aspartate Receptor Encephalitis / complications, Anti-N-Methyl-D-Aspartate Receptor Encephalitis / diagnosis, Anti-N-Methyl-D-Aspartate Receptor Encephalitis / drug therapy, Case Reports, Central Nervous System, Humans, Receptors, N-Methyl-D-Aspartate, Rituximab / therapeutic use, Seizures / drug therapy, Rituximab, Receptors, N-Methyl-D-Aspartate

Background:
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the most prevalent etiologies of autoimmune encephalitis. Approximately 25% of anti-NMDAR encephalitis cases prove refractory to both first- and second-line treatments, posing a therapeutic dilemma due to the scarcity of evidence-based data for informed decision-making. Intravenous rituximab is commonly administered as a second-line agent; however, the efficacy of its intrathecal administration has rarely been reported.
Case summary:
We report two cases of severe anti-NMDAR encephalitis refractory to conventional therapies. These patients presented with acute-onset psychosis progressing to a fulminant picture of encephalitis manifesting with seizures, dyskinesia, and dysautonomia refractory to early initiation of first- and second-line therapeutic agents. Both patients received 25 mg of rituximab administered intrathecally, repeated weekly for a total of four doses, with no reported adverse effects. Improvement began 2-3 days after the first intrathecal administration, leading to a dramatic recovery in clinical status and functional performance. At the last follow-up of 6 months, both patients remain in remission without the need for maintenance immunosuppression.
Conclusion:
Our cases provide evidence supporting the intrathecal administration of rituximab as a therapeutic option for patients with refractory anti-NMDAR encephalitis. Considering the limited penetration of intravenous rituximab into the central nervous system, a plausible argument can be made favoring intrathecal administration as the preferred route or the simultaneous administration of intravenous and intrathecal rituximab. This proposition warrants thorough investigation in subsequent clinical trials.
Case series report: use of vibroacoustic pulmonary therapy in patients with thoracic trauma complicated by acute respiratory failure
Authors: Aidos Konkayev, Assema Bekniyazova, Zaituna Khamidullina, Maiya Konkayeva
Journal: Front Med (Lausanne) (2024)
Keywords: case series, chest trauma, polytrauma, respiratory failure, vibroacoustic therapy
MeSH terms: Case Reports

Chest injury is often accompanied by polytrauma and is complicated by respiratory failure. This article presents a series of cases with verified acute respiratory failure in patients with chest injury, where vibroacoustic pulmonary therapy was used in complex treatment. Dynamic X-rays and respiratory drive indicators reflected the effect of the use of vibroacoustic lung therapy. Early diagnosis of respiratory disorders and complex therapy using vibroacoustic pulmonary therapy can improve results. As a result, the time spent in the hospital and in the intensive care unit is reduced, and the frequency of adverse outcomes is reduced.
Rare pelvic peritoneal defect causing small bowel obstruction in a young female with virgin abdomen
Authors: Yunpeng Jack Deng, Emily Baker, Sumeet Toshniwal
Journal: J Surg Case Rep (2024)
Keywords: pouch of douglas, internal hernia, peritoneal defect, small bowel obstruction
MeSH terms: Case Reports

This case report discusses a 46-year-old female with no prior surgical history who presented with severe abdominal pain and generalized tenderness. She was found to have a small bowel obstruction secondary to internal hernia caused by a rare congenital pelvic peritoneal defect in the Pouch of Douglas. She required diagnostic laparoscopy and repair of the pelvic peritoneal defect. Congenital peritoneal defect is an extremely rare cause of small bowel obstruction but should remain a possible differential diagnosis in patients with virgin abdomen presenting with acute abdominal pain.
Multiple sclerosis in a 4-year-old boy: a case report and literature review
Authors: Ula Arkar, Tina Vipotnik Vesnaver, Damjan Osredkar, Mirjana Perković Benedik, Neli Bizjak
Journal: Front Neurol (2024)
Keywords: disease modifying therapies, multiple sclerosis, pediatric onset multiple sclerosis, rituximab, very early onset multiple sclerosis
MeSH terms: Case Reports

Pediatric onset multiple sclerosis (POMS) in the very young is a very rare entity and presents a difficult diagnostic challenge due to overlapping signs and symptoms with other diseases. We present a 4-year-old boy who initially presented with right-sided hemiparesis and demyelinating lesions on MRI. Follow-up MRI examinations 3 and 6 months later revealed new demyelinating lesions. Ten months after initial presentation, he presented with right-sided hemiparesis, central facial nerve palsy on the right side and new demyelinating lesions on MRI. Two clinical events and new MRI lesions on follow-up MRIs confirmed the diagnosis of POMS. He was treated with rituximab and experienced no further relapses or radiological progression during the follow-up period.
Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report
Authors: Derek Chaves Lopes, Lorenna Sena Teixeira Mendes, Inês Catão Henriques Ferreira
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Autism Spectrum Disorder / complications, Autism Spectrum Disorder / diagnosis, Hypotrichosis / complications, Hypotrichosis / diagnosis, Hypotrichosis / genetics, Intellectual Disability / complications, Intellectual Disability / diagnosis, Case Reports, Child, Facies, Humans, Male, Nicolaides Baraitser syndrome

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.