OpenMed/multicare-articles huggingface dataset:
Clinical rarity: simultaneous choroid plexus papilloma and extraventricular neurocytoma presenting as intraventricular hemorrhage in an adolescent
Authors: Kaleb Derouen, Kierany Shelvin, Wesley Shoap, Randall Craver, Jerome Volk, Oritsejolomi A Roberts
Journal: J Surg Case Rep (2024)
Keywords: choroid plexus papilloma, neurosurgery, pediatric neurosurgery
MeSH terms: Case Reports

We present a patient with an intraventricular hemorrhage. Imaging identified a left atrial intraventricular mass and a vague adjacent second periventricular cystic lesion. A guided trans-sulcal approach via a left parietal craniotomy resulted in a gross total resection of both lesions. These represented two distinct lesions, the periventricular cystic lesion was an extraventricular neurocytoma (EVN) and a World Health Organization grade 1 choroid plexus papilloma (CPP). The neurocytoma required methylation studies for confirmatory diagnosis. The patient had an uneventful recovery with a normal neurological exam at 12-weeks. This documents the occurrence of two distinct central nervous system tumors, a CPP and an EVN presenting with an intraventricular hemorrhage.
Diverse clinical presentation of primary spontaneous pneumothorax in patients with pectus excavatum
Authors: June Lee, Jin Yong Jeong, Jong Hui Suh, Chan Beom Park, Dulee Kim, Soo Seog Park
Journal: Front Surg (2023)
Keywords: complication, minimally invasive surgery, nuss procedure, pectus excavatum, primary spontaneous pneumothorax

Objective:
Patients with primary spontaneous pneumothorax (PSP) tend to be young, tall, and thin, as do those with pectus excavatum (PE). Notably, the Haller index, which measures the severity of PE, tends also to be higher in patients with PSP, further suggesting a potential predisposing factor for the development of PSP in individuals with PE. This study aimed to share clinical experiences with case series of concomitant PSP and PE and to emphasize the importance of evaluating these two conditions together.
Methods:
In this single-center study, we conducted a retrospective records review to identify patients who were diagnosed and treated (including surgical or conservative treatment and follow-up observation) for the diagnosis of PE between July 2011 and February 2023. From these, we selected patients who were diagnosed with both PE and PSP and analyzed their clinical presentations.
Results:
Among a total of 139 patients with PE, there were 8 (5.76%) who had concurrent diagnoses of PE and PSP and who underwent surgery for PSP, PE, or both. The average age of these 8 patients (male:female = 7:1) was 19.38 years. The 8 patients were grouped into four categories based on their clinical scenarios. Group A had 1 patient with PE diagnosed first, followed by the discovery of PSP during evaluation; Group B included 2 patients initially presenting with PSP and subsequently diagnosed with PE during evaluation; Group C consisted of 1 patient who had PSP before undergoing surgical PE correction; and Group D comprised 4 patients who developed PSP after PE correction.
Conclusions:
The incidence of PSP in patients with PE was 5.76% (8 out of 139 patients), indicating the importance of vigilant monitoring for PSP prior to PE surgery, and vice versa. Furthermore, the authors recommend close observation for PSP independent of PE surgery, even in the absence of postoperative complications.
Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV 17 deficiency: a case report and literature review
Authors: Liu-Yuan Wei, Xiu-Qi Chen, Li Huang, Qing-Wen Shan, Qing Tang
Journal: Front Surg (2024)
Keywords: mpv17 gene, chidren, liver transplant, mitochondrial dna depletion syndrome, mitochondrial disease
MeSH terms: Case Reports

Objective:
To study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant.
Case presentation:
A boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to homozygous variant c.293C>T in the MPV17 gene. Subsequently, he underwent LT from a cadaveric donor. At follow-up after 15 months, his liver function was found to be normal, without any symptoms. Additionally, a literature review was performed that included MDS patients with the MPV17 variant who underwent LT. The results demonstrated that the survival rates for MDS patients who underwent LT were 69.5%, 38.6%, 38.6%, and 38.6% at 1-year, 5-year, 10-year, and 20-year intervals, respectively. Sub-group analyses revealed the survival rate of MDS patients with isolated liver disease (83.33%, 5/6) was higher than that of hepatocerebral MDS patients (44.44%, 8/18). Fifteen variants were identified in the MPV17 gene, and patients with the c.293C>T (p.P98l) variant exhibited the highest survival rate.
Conclusion:
Hepatocerebral MDS patients without neurological symptoms may benefit from LT.
Unraveling persistent dyspnea after mild COVID: insights from a case series on hyperventilation provocation tests
Authors: Ophélie Ritter, Sofia Noureddine, Lucie Laurent, Pauline Roux, Virginie Westeel, Cindy Barnig
Journal: Front Physiol (2024)
Keywords: covid-19, petco2, dyspnea, hyperventilation provocation tests, hyperventilation syndrome

Dyspnea is a common yet poorly understood symptom of long COVID, affecting many patients. This brief report examines the role of dysfunctional breathing in persistent dyspnea among patients with mild post-COVID-19 using hyperventilation provocation tests (HVPT). In this case series, six patients with unexplained dyspnea and normal cardiopulmonary function underwent HVPT. Despite normal exercise testing results, all patients exhibited delayed PETCO2 recovery, indicative of a hyperventilation pattern consistent with chronic hyperventilation syndrome, without typical symptomatic manifestations. These findings suggest underlying post-COVID respiratory dysregulation, emphasizing the importance of targeted diagnostic and therapeutic approaches for persistent respiratory symptoms in long COVID patients.
Allo-HSCT with TBI-based preconditioning for hepatosplenic T-cell lymphoma: two case reports and systematic review of literature
Authors: Can Chen, Fan Yang, Peiwen Miu, Pengfei Shi, Shenxian Qian
Journal: Front Oncol (2024)
Keywords: allogeneic hematopoietic stem cell transplantation, hepatosplenic t cell lymphoma, preconditioning, prognosis, systematic review, total body irradiation
MeSH terms: Case Reports

Hepatosplenic T cell lymphoma (HSTCL) is a particularly difficult-to-treat form of lymphoma, with many patients exhibiting primary resistance to chemotherapy. At present, no effective strategy for treating relapsed and refractory HSTCL has been established, with treatment being hampered by questions of how best to overcome chemoresistance to allow patients to attain more durable therapeutic benefits. While there have been marked advances in immunotherapy, allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains one of the primary approaches to curing HSTCL. Of patients who undergo immunochemotherapeutic treatment, many are resistant to conventional chemotherapeutic drugs yet remain sensitive to radiotherapy. We selected to employ a transplant pretreatment regimen consisting of total -body irradiation (TBI) and administered this regimen to two patients with HSTCL. Both patients achieved complete remission (CR) after transplantation, demonstrating extended periods without disease recurrence. We systematic reviewed previously published instances involving allo-HSCT in patients with HSTCL. We have found a total of 67 patients who have received allo-HSCT. In general, age<45 and the status of CR at HSCT may have a more favorable prognosis. Although the impact of TBI on prognosis was not found to be substantial, patients in the TBI group had higher 3-year overall survival (66.7% vs. 71.1%) and 5-year overall survival (58.4% vs. 71.1%) compared to patients in the non-TBI group. In addition, the relapse rate of the TBI group is approximately half that of the non-TBI group. This regimen is well tolerated and associated with low recurrence rates or complications, suggesting that it represents a viable pretreatment regimen for young HSTCL patients undergoing allogeneic HSCT.
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series
Authors: Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Tinatin Davitaia
Journal: Front Med (Lausanne) (2023)
Keywords: alport syndrome, col4a3, consanguinity, founder effect, thin basement membrane disease
MeSH terms: Case Reports

Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3, COL4A4, and COL4A5 genes. The phenotypes can range from isolated hematuria with a non-progressive or very slowly progressive course to progressive kidney disease with extrarenal abnormalities. Timely diagnosis of Alport syndrome facilitates the early and effective implementation of treatment, as well as genetic counseling. Here, we report the COL4A3 c.765G > A, p.((=)) mutation in three ethnically Azerbaijani, apparently unrelated, consanguineous families from the village of Algeti in the Marneuli region of Georgia. We speculate that this variant could represent a founder mutation within this population and recommend offering genetic testing to Algeti village residents with persistent hematuria.
Case Report: A very rare case of a Pleural Effusion revealing Multiple Myeloma
Authors: Selsabil Daboussi, Asma Saidane, Samira Mhamdi, Marwa Kacem, Samia Essbaa, Chiraz Aichaouia, Hela Ghedira, Faten Gargouri, Issam Msakni, Zied Moatemri
Journal: F1000Res (2023)
Keywords: myeloma, malignant, pleura, thoracoscopy
MeSH terms: Multiple Myeloma / complications, Multiple Myeloma / diagnosis, Multiple Myeloma / pathology, Case Reports, Aged, Fatal Outcome, Humans, Male, Pleural Effusion / diagnosis, Pleural Effusion / diagnostic imaging, Pleural Effusion / etiology, Pleural Effusion / pathology, Pleural Effusion, Malignant / diagnosis, Pleural Effusion, Malignant / etiology, Pleural Effusion, Malignant / pathology

Multiple myeloma is a common malignant bone-based disease. Pleural effusions reported in these patients remain rare. It is commonly due to congestive heart disease, pulmonary embolism, nephrotic syndrome or a second neoplasia. The true myelomatous pleural effusion resulting from a direct tumoral invasion of the pleural are extremely rare. We report here the case of a massive pleural effusion revealing multiple myeloma in a 71-year-old patient. The chest ultrasound showed a massive pleural effusion in the left side with a multinodular thickening of the pleura. The medical thoracoscopy showed a grape-cluster appearance. The diagnosis was made by pleural guided biopsy revealing abnormal plasma cells with an intense positive CD 138 (plasma cell marker) and MUM1 (multiple myeloma oncogene1) staining with a light kappa chain in the protein electrophoresis associated with a myeloma. Unfortunately, our patient died one month after the initial diagnosis. We present also a review of the recent literature in order to highlight the clinical presentations of the myelomatous pleural effusion, the diagnostic tools, the therapeutic strategies as well as the outcomes.
Headache attributed to giant cell arteritis complicated with rheumatic polymyalgia diagnosed with F18-fluorodeoxyglucose positron emission tomography and computed tomography: a case report
Authors: Dong Wang, Zunjing Liu, Huailian Guo, Li Yang, Xinhua Zhang, Li Peng, Min Cheng, Hong Jiang
Journal: Front Neurol (2023)
Keywords: pet, case report, giant cell arteritis, headache, rheumatic polymyalgia
MeSH terms: Case Reports

Giant cell arteritis (GCA) is a kind of systemic vasculitis affecting individuals over 50 years old and is often the cause of new-onset headaches in older adults. Patients with GCA sometimes have rheumatic polymyalgia (PMR). The diagnosis of GCA generally depends on clinical manifestation, elevated erythrocyte sedimentation rate (ESR) or C-reactive protein, and positive imaging findings commonly obtained by ultrasound or temporal artery biopsy. In this study, we report a case of an 83-year-old woman with a new-onset headache and an elevated ESR. The result of the temporal artery ultrasound did not distinguish between vasculitis and atherosclerosis. The F18-fluorodeoxyglucose positron emission tomography and computed tomography (18F FDG PET-CT) were performed and suggested large vessel vasculitis with temporal artery involvement. In addition, polyarticular synovitis and bursitis were also revealed. Finally, the diagnosis of secondary headache attributed to CGA complicated with PMR was established. The patient experienced remission of symptoms after glucocorticoid therapy. PET can become a powerful tool for diagnosis and differential diagnosis when the ultrasound result is ambiguous and a biopsy is not obtained.
Case report: A combination of nitroglycerin and adenosine proves effective in repairing a cerebral arteriovenous malformation
Authors: Virginia Rojas-Nieves, Cristian Rosa-Carrasquillo, Allan Reyes-Sullivan, Marie Román, Caleb E Feliciano-Valls, Héctor M Torres-Pérez, Pamela Fernández, María J Crespo
Journal: Front Neurol (2023)
Keywords: adenosine, arteriovenous malformations (avm), embolization, nitroglycerin, transvenous
MeSH terms: Case Reports

Hemorrhage secondary to rupture of a brain arteriovenous malformations (AVM) is one of the initial manifestations, and the main cause of, morbidity and mortality in patients with this condition. Current treatment strategies include endovascular embolization with the goal of AVM obliteration and neurological preservation. In the transvenous endovascular embolization procedure, adenosine is the preferred agent to induce temporary hypotension and allow adequate AVM embolization. We describe the intraoperative management of an adenosine-resistant 38 year-old male who underwent a successful intracranial AVM embolization after concomitant administration of gradually increasing doses of nitroglycerin. This report suggests that nitroglycerin infusion can be combined with adenosine boluses to create a pronounced and dose-dependent hypotension in patients partially unresponsive to adenosine alone.
Spontaneous splenic rupture as the initial symptom of splenic angiosarcoma: case report and literature review
Authors: Peiwu Jiang, Xiaowen Li, Jie Chen, Du Li, Yehong Han
Journal: Front Oncol (2024)
Keywords: angiosarcoma, case reprot, immunohistochemistry, spleen, splenectomy, splenic rupture
MeSH terms: Case Reports

Spontaneous splenic rupture is an extremely rare occurrence, often attributed to tumorous pathologies. Among these, primary splenic angiosarcoma stands as a malignancy arising from the endothelial cells within the spleen. While sporadic cases have been reported globally, there remains a lack of comprehensive consensus on standardized approaches for diagnosis and treatment. We report a case of an 83-year-old male who underwent emergency enhanced CT due to sudden shock, revealing significant intra-abdominal fluid accumulation. Emergency surgery revealed splenic rupture necessitating splenectomy. Histopathological examination confirmed the diagnosis of splenic angiosarcoma. Despite successful surgery, the patient succumbed to severe complications two weeks postoperatively.
Beak fracture associated with leiomyosarcoma in a budgerigar (Melopsittacus undulatus): a case report and literature review
Authors: Brittany L Rasche, Daniel Felipe Barrantes Murillo, Tatiane Terumi Negrão Watanabe
Journal: Front Vet Sci (2023)
Keywords: melopsittacus undulatus, beak, budgerigar, leiomyosarcoma, neoplasia
MeSH terms: Case Reports

A 2-year-old male budgerigar (Melopsittacus undulatus) died after a 1-day history of fracture of the rostral rhinotheca with pale mucous membranes, dyspnea, dull mentation, and ataxia. Histopathology revealed an infiltrative neoplasm composed of interweaving streams of spindle cells effacing the dermis and bone of the rostral upper beak as well as a ganglion and two cranial nerves. No visceral metastasis was observed. Neoplastic cells exhibited strong cytoplasmic immunolabeling for alpha-smooth muscle actin (α-SMA) and lacked immunolabeling for S100, Melan-A, PNL2, and cytokeratin AE1/AE3. These findings were consistent with a locally invasive leiomyosarcoma Leiomyosarcomas arise from the smooth muscle and are locally invasive with rare metastases. In birds, leiomyosarcomas are mostly reported to arise from the spleen, gastrointestinal, and reproductive tracts. In the case report herein, we describe the histological and immunohistochemical features of a primary beak leiomyosarcoma in a budgerigar associated with a fracture located at the rostral rhinotheca. Leiomyosarcoma arising from the beak has not been described in the literature.
Double polytetrafluoroethylene patch repair for diaphragmatic defect caused by diaphragmatic rupture following diaphragmatic resection with endostapler
Authors: Hiroaki Komatsu, Nao Furukawa, Hirotaka Kinoshita, Kazunori Okabe
Journal: J Surg Case Rep (2024)
Keywords: ptfe patch repairment, diaphragm paralysis, diaphragmatic defect, diaphragmatic resection, diaphragmatic rupture
MeSH terms: Case Reports

A 41-year-old man developed phrenic nerve palsy after the resection of anterior mediastinal tumor, who underwent diaphragmatic resection with an endostapler. After the surgery, the surgical stump ruptured, resulting in a large diaphragmatic defect with the liver prolapsing into the thoracic cavity. Then, the diaphragmatic defect was closed with a polytetrafluoroethylene (PTFE) patch. The diaphragm was reconstructed using a second PTFE patch overlaying the diaphragmatic defect that had been closed by the first PTFE patch, because solely patching the diaphragmatic defect had a risk of recurrence of diaphragmatic elevation due to remaining original diaphragm and the presence of phrenic nerve palsy. The second PTFE patch was fixed to the lower ribs by non-absorbable suture. The postoperative course was favorable. After 3 months, his symptoms and pulmonary function improved. We underwent double PTFE patch repair in a patient with both huge diaphragmatic defect and phrenic nerve palsy.
Sudden Deterioration of a Young Patient During Elective Cesarean Section. Amniotic Fluid Embolism… or Else? - A Case Report
Authors: Ioana Roxana Codru, Marian Valeriu Codru, Bogdan Ioan Vintilă, Ioana Gherman, Dragoș Popescu
Journal: J Crit Care Med (Targu Mures) (2024)
Keywords: c-section, anaphylaxis, cardiac, deterioration, respiratory, spinal anesthesia
MeSH terms: Case Reports

Sudden respiratory and circulatory collapse during or immediately after delivery, vaginal or surgical, can have many causes that can lead to poor maternal outcomes. A pregnancy-induced amniotic fluid embolism and anaphylaxis are two distinct medical conditions that appear similar clinically but have very different underlying mechanisms and treatment approaches. Amniotic fluid embolism is a rare but life-threatening obstetric emergency that leads to a systemic inflammatory response that can be easily confounded with an anaphylactic reaction. We report the case of a patient with no comorbidities or allergies before the current pregnancy that was proposed for delivery by C-Section under spinal anesthesia. After delivery of the placenta and administering the test dose of antibiotic, the patient developed sudden circulatory collapse, altered neurological status, and critical respiratory distress. At that point, the two presumed diagnoses were amniotic fluid embolism and anaphylaxis. Concurrently with the diagnostic pathway, supportive measures (intubation, mechanical ventilation, hemodynamic support) were taken. The clinical evolution was favorable, and after day three, the patient was discharged from the hospital. Our case highlights the significance of promptly distinguishing between anaphylaxis and amniotic fluid embolism to facilitate the timely management of the critical situation.
Two Cases of Acute Diverticulitis Following Ocrelizumab Infusion in Patients With Multiple Sclerosis
Authors: Nicholas Vigilante, Cris S Constantinescu
Journal: Cureus (2024)
Keywords: diverticulitis of the appendix, drug-related side effects and adverse reactions, ocrelizumab, relapsing-remitting multiple sclerosis (rrms), sigmoid diverticulitis
MeSH terms: Case Reports

Ocrelizumab is an anti-CD20 monoclonal antibody used to treat primary progressive and relapsing-remitting multiple sclerosis. Several prior case reports have demonstrated colitis in association with ocrelizumab infusion, and one case report has shown ocrelizumab-associated diverticulitis. We report on two cases in which ocrelizumab treatment of multiple sclerosis was complicated by acute diverticulitis. A 50-year-old woman and a 41-year-old man, both with relapsing-remitting multiple sclerosis, presented with acute abdominal pain. One patient had no known gastrointestinal history while the other had a history of laparoscopic sleeve gastrectomy. Both patients had received an ocrelizumab infusion one month prior to presentation. The woman underwent exploratory laparotomy, which revealed perforated sigmoid diverticulitis. The man was initially suspected of appendicitis and was treated with appendectomy, but a pathology review demonstrated diverticular disease in the appendix. In patients with multiple sclerosis on ocrelizumab, presentation with diverticulitis should include ocrelizumab-induced diverticulitis in the differential diagnosis.
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
Authors: Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Sabina Capellari, Rocco Liguori, Valerio Carelli
Journal: Front Genet (2023)
Keywords: sod1, tbk1, amyotrophic lateral sclerosis, mitochondrial dna, oligogenic inheritance
MeSH terms: Case Reports

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypical clinical features consisting in progressive ocular ptosis and sensorineural deafness. Genetic analyses revealed two heterozygous variants, in the SOD1 (OMIM*147450) and the TBK1 (OMIM*604834) genes respectively, and furthermore mitochondrial DNA (mtDNA) sequencing identified the homoplasmic m.14484T>C variant usually associated with Leber's Hereditary Optic Neuropathy (LHON). We discuss how all these variants may synergically impinge on mitochondrial function, possibly contributing to the pathogenic mechanisms which might ultimately lead to the neurodegenerative process, shaping the clinical ALS phenotype enriched by adjunctive clinical features.