OpenMed/multicare-articles huggingface dataset:
Acute Encephalopathy Workup for a Patient With a History of Lupus Cerebritis and Unremarkable Inflammatory Markers: A Case Report
Authors: Connor Dasbach, Doo Hee Kim, Ryan Pinti, Bibban Bant Deol
Journal: Cureus (2024)
Keywords: lupus cerebritis, lupus flare, non inflammatory lupus, sle and lupus encephalitis, systemic lupus erythematosis
MeSH terms: Case Reports

Lupus is a relatively rare disease; however, many of the patients diagnosed with lupus experience an acute confusional state. Despite the prevalence, lupus cerebritis remains a diagnosis of exclusion due to the number of differential diagnoses of the cause of acute confusional state and unreliable clinical markers. This case report highlights the significant duration it takes to work up a broad differential before initiating treatment for lupus. Our case involves a 65-year-old woman with a documented history of lupus, who presented with acute encephalopathy. Following the comprehensive diagnostic investigation, the patient was treated with high-dose steroids that resolved the patient's symptoms. This report considers the option of empiric steroid treatment in the setting of acute encephalopathy in individuals with a history of lupus cerebritis with inconclusive test results.
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals
Authors: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F Chinnery, Catarina Olimpio, Rita Horvath
Journal: Front Neurol (2023)
Keywords: dna-j heat shock protein family (hsp40) member c30 (dnajc30), leber hereditary optic neuropathy (lhon), autosomal recessive lhon (arlhon), c152a>g (ptyr51cys), idebenone, mitochondrial lhon (mtlhon), recessive optic neuropathy
MeSH terms: Case Reports

Background:
Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in mitochondrial DNA (mtDNA); however, recent studies have identified an autosomal recessive form of LHON (arLHON) caused by point mutations in the nuclear gene, DNAJC30.
Case presentations:
In this study, we report the cases of three Eastern European individuals presenting with bilateral painless visual loss, one of whom was also exhibiting motor symptoms. After a several-year-long diagnostic journey, all three patients were found to carry the homozygous c.152A>G (p.Tyr51Cys) mutation in DNAJC30. This has been identified as the most common arLHON pathogenic variant and has been shown to exhibit a significant founder effect amongst Eastern European individuals.
Conclusion:
This finding adds to the growing cohort of patients with arLHON and demonstrates the importance of DNAJC30 screening in patients with molecularly undiagnosed LHON, particularly in Eastern European individuals. It is of heightened translational significance as patients diagnosed with arLHON exhibit a better prognosis and response to therapeutic treatment with the co-enzyme Q10 analog idebenone.
Case report: Unveiling the unforeseen: a catastrophic encounter of giant aortic aneurysm rupture during re-sternotomy in a patient with bicuspid aortic valve and previous surgical aortic valve replacement
Authors: Hao Niu, Lu Liu, Xiangfeng Gong, Haochen Wang, Yingqiang Guo, Eryong Zhang, Zhenghua Xiao
Journal: Front Cardiovasc Med (2023)
Keywords: aortic aneurysm rupture and hemorrhage, bicuspid aortic valve, case report, deep hypothermia circulatory arrest, giant aortic aneurysm, redo cardiac surgery
MeSH terms: Case Reports

Due to structural abnormalities in the leaflets, patients with bicuspid aortic valve (BAV) may develop isolated aortic valve disease, such as aortic regurgitation, aortic stenosis, or a combination of both. In addition to valvular pathology, numerous studies have indicated that approximately 40% of BAV patients exhibit aortic pathologies characterized by aortic dilatation. According to guidelines for valvular diseases, patients with BAV who require surgical aortic valve replacement (SAVR) and have a diameter of the aortic sinuses or ascending aorta ≥4.5 cm are recommended to undergo concomitant replacement of the aortic sinuses or ascending aorta. However, we encountered a case in 2020 involving a patient with severe aortic regurgitation due to BAV and an ascending aortic diameter of 4.2 cm. This patient underwent SAVR and ascending aortoplasty surgery at our center. Remarkably, three years postoperatively, the patient's aortic diameter rapidly expanded by nearly threefold, which also suggests the risk of encountering a giant aortic root aneurysm during reoperation. Unfortunately, a fatal rupture of a giant aortic root aneurysm was encountered during re-sternotomy. Fortunately, with adequate preoperative planning, we successfully managed to avert this perilous situation. The patient recovered without complications and was discharged on the 8th day. Individualized surgical plans were formulated based on a comprehensive evaluation of the perioperative conditions.
Case report: An OSAS patient with comorbid RLS/PLMS - a closer look at the causes of PAP intolerance
Authors: Christina A H Dirks, Cornelius G Bachmann
Journal: Front Neurol (2023)
Keywords: pap-therapy, augmentation, hypoglossal nerve stimulation, obstructive sleep apnea, periodic limb movements in sleep, restless legs syndrome, tongue pacemaker
MeSH terms: Case Reports

Since 2017, hypoglossal nerve stimulation has been included in the S3-guidelines on restorative sleep/sleep disorders as an alternative treatment for patients with obstructive sleep related breathing disorders who cannot tolerate conventional PAP-therapy. Under certain conditions, some of these patients have the option to have a tongue pacemaker implanted during a surgical procedure to regain a restful night's sleep. However, in some cases it does not solve the problem. In this case report, we present a patient who continued to have restless sleep despite implantation of a hypoglossus nerve stimulator. We provide a closer look at the underlying causes of PAP intolerance and emphasize the importance of a combined pneumological and neurological approach to sleep medicine in sleep-specific therapy evaluation.
Case report and literature review: management of Paxlovid (nirmatrelvir/ritonavir)-induced acute tacrolimus toxicity in a patient with systemic lupus erythematosus
Authors: Chenxiao Jiang, Xiaodi Yan, Peng Xia, Xuemei Luo, Haoyue Zheng, Hanwen Tong, Yun Liu, Huaijun Zhu, Peng Xu, Jun Wang
Journal: Front Pharmacol (2024)
Keywords: cyp induction, case report, nirmatrelvir/ritonavir, systemic lupus erythematosus, tacrolimus
MeSH terms: Case Reports

Despite the availability of effective vaccines and treatments for SARS-CoV-2, managing COVID-19 in patients with systemic lupus erythematosus (SLE) remains challenging, particularly considering drug-drug interactions (DDIs). Here, we present a case of DDIs between Tacrolimus (Tac) and nirmatrelvir/ritonavir (NMV/r) in a 32-year-old male with SLE. Following self-administration of NMV/r and resumption of Tac after 5 days, the patient experienced acute nephrotoxicity and neurotoxicity, accompanied by supratherapeutic Tac levels, despite Tac being withheld during NMV/r. The primary cause of this acute toxicity is attributed to ritonavir's inhibitory effect on both CYP3A4 enzymes and P-glycoprotein. Upon admission, Tac was discontinued, and supportive therapies were initiated. Phenytoin, a CYP3A4 inducer, was administered to lower Tac levels under the guidance of clinical pharmacists, effectively alleviating the patient's acute toxic symptoms. The half-life of Tac during the treatment of phenytoin was calculated to be 55.87 h. And no adverse reactions to phenytoin were observed. This case underscores the persistence of enzyme inhibition effects and demonstrates the effectiveness and safety of utilizing CYP3A4 enzyme inducers to mitigate Tac concentrations. Furthermore, it emphasizes the importance of healthcare providers and patients being vigilant about DDIs in Tac recipients. Lastly, it highlights the indispensable role of pharmacist involvement in clinical decision-making and close monitoring in complex clinical scenarios. Although our findings are based on a single case, they align with current knowledge and suggest the potential of individualized combination therapy in managing challenging COVID-19 cases in immunocompromised patients.
Case Report: Identification of a novel STAT3 mutation in EBV-positive inflammatory follicular dendritic cell sarcoma
Authors: Megan C Ramsey, Peter J B Sabatini, Geoffrey Watson, Tanya Chawla, Michael Ko, Ali Sakhdari
Journal: Front Oncol (2023)
Keywords: epstein barr virus (ebv), stat3, chemotherapautic, inflammatory follicular dendritic cell sarcoma, mutational profile
MeSH terms: Case Reports

EBV-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) is an uncommon disease primarily observed in Asia. It is characterized by the development of tumors believed to originate from follicular dendritic cells (FDC). The consistent association between this condition and clonal EBV infection suggests EBV's involvement as an etiological factor. However, diagnosing EBV+ IFDCS can be challenging due to its morphological variability and diverse immunohistochemical staining patterns. The genetic characteristics of EBV+ IFDCS remain insufficiently understood. To address this knowledge gap, we present a case study of a 47-year-old male patient diagnosed with EBV+ IFDCS. We utilized a Next-generation sequencing (NGS) platform to investigate the genetic profile of the tumor cells. We identified a single pathogenic mutation (G618R) in the STAT3 gene. This finding provides valuable insights into the genetic alterations associated with EBV+ IFDCS and potentially contributes to our understanding of the disease's pathogenesis.
Delayed Presentation of Popliteal Artery Injury after Salter-Harris III Proximal Tibia Fracture
Authors: Alexandra H Seidenstein, Timothy W Torrez, Jacob A Garcia, Shadi K Awad, Henry Debell, Shawn R Gilbert, Kevin A Williams
Journal: Case Rep Orthop (2023)
MeSH terms: Case Reports

Introduction:
Proximal tibia physeal fractures in children are not very common but can be dangerous because they can harm popliteal fossa structures, especially the popliteal artery. Popliteal artery injuries (PAI) are most commonly the result of trauma to the lower extremity, including blunt force, hyperextension injuries, complex fractures, and knee dislocations that can compromise popliteal neurovascular structures. Case Presentation. A 14-year-old boy presents to the emergency department after being transferred from an outside hospital 24 hours after a left lower extremity hyperextension injury. Radiographs demonstrated a Salter-Harris III proximal tibia fracture with posterior displacement. ABIs were deferred due to palpable distal pulses and no evidence of compartment syndrome. Closed reduction and percutaneous pinning were planned to correct the fracture. Intraoperatively, it was discovered that knee extension decreased lower extremity perfusion while knee flexion returned perfusion. An angiography revealed a popliteal artery occlusion with no distal flow. Based on this, an above-knee to below-knee popliteal bypass using the contralateral great saphenous vein was performed followed by closed reduction and percutaneous pinning of the proximal tibia.
Conclusion:
Proximal tibia physeal injuries, especially the Salter-Harris III and IV injuries, warrant a high index of suspicion of popliteal artery injuries. Palpable pulses and delayed presentation in the distal lower extremity do not rule out a PAI because collateral flow to the anterior and posterior tibial arteries may mask signs of an avascular limb, highlighting the need for a thorough history and physical exam. The authors present this case to reaffirm the importance of an ankle-brachial index when evaluating hyperextension injuries with proximal tibial epiphyseal fractures.
Overcoming the Odds: Successful Treatment of Disseminated Mucormycosis with Gastrointestinal and Jaw Involvement in a Patient with Acute Myeloid Leukemia
Authors: Thuraya Al-Busaidi, Fatma Al-Bulushi, Adil Al-Zadjali, Abdulaziz Bakathir, Abdullah Balkhair, Ibrahim Al Busaidi
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Disseminated mucormycosis is a rare life-threatening fungal infection that is uniquely seen in severely immunocompromised patients including those with hematological malignancies. We report a case of disseminated mucormycosis with a biopsy-proven gastrointestinal and oral cavity involvement in a patient with acute myeloid leukemia during induction chemotherapy. The patient had a successful outcome with limited resection of the involvement bowel segment, multiple maxillary dental extractions, debridement of the alveolus and hard palate, and combined antifungal therapy. After clinical improvement, stable infection on serial abdominal imaging, and completion of 6 weeks of combined antifungal therapy, consolidation chemotherapy was given, and molecular remission was achieved. The patient remained clinically well on secondary antifungal prophylaxis.
Case Report: "Aggressive" perioperative antiseizure medication prophylaxis in patients with glioma-related epilepsy at high risk of early postoperative seizures following awake craniotomy
Authors: Brin E Freund, Kurt Jaeckle, Alfredo Quinones-Hinojosa, Anteneh M Feyissa
Journal: Front Surg (2024)
Keywords: brain tumor surgery, direct cortical stimulation, early postoperative seizure, epilepsy, glioma, postoperative seizure, seizure
MeSH terms: Case Reports

Early postoperative seizures (EPS) are a common complication of brain tumor surgery. EPS can lead to hemorrhage, cerebral hypoxia, increased intracranial pressure, longer hospitalization, reduced quality of life, decreased overall survival, and increased morbidity. However, there are no formal guidelines on perioperative antiseizure medication (ASM) management in patients with tumor-related epilepsy who are deemed high risk for EPS. In this study, we describe the case of a 38-year-old man with isocitrate dehydrogenase-mutant mixed glioma and two episodes of EPS manifesting with status epilepticus during prior tumor surgeries and who presented with tumor progression. The Tumor Board recommended awake craniotomy with direct electrical stimulation (DES). The patient was administered aggressive preoperative "prophylactic" ASMs by increasing the maintenance doses of lacosamide and levetiracetam by 25% 48 h before surgery. An intravenous load of fosphenytoin (20 mg/kg) was administered in the operating room before DES, followed by a maintenance dosing of 300 mg/day for 14 days. EPS did not occur, and he was discharged home on postoperative day 4. Our case illustrates that aggressive perioperative prophylactic ASM therapy beyond the maintenance ASM regimen can be considered in patients with tumor-related epilepsy at risk of EPS.
Successful remote treatment of a client with Hikikomori using internet-delivered cognitive therapy for social anxiety disorder: a case report
Authors: Motohiro Sakai, Naoki Yoshinaga, Graham R Thew, David M Clark
Journal: Front Psychiatry (2024)
Keywords: case study, cognitive therapy, hikikomori, internet-based intervention, social anxiety disorder
MeSH terms: Case Reports

Hikikomori (prolonged social withdrawal) has been discussed as a hidden worldwide epidemic and a significant social and healthcare issue. Social anxiety disorder is the most common psychiatric disorder preceding the onset of Hikikomori. Although studies exist suggesting the effectiveness of family-support interventions, little is known about psychotherapeutic approaches for Hikikomori individuals. Here, we present a case of Hikikomori wherein an internet-delivered cognitive therapy for social anxiety disorder (iCT-SAD) worked effectively in improving the client's social anxiety symptoms and social interaction behaviors. This case study demonstrates the principle that evidence-based psychological interventions focusing on social anxiety can be effective for clients with Hikikomori. Furthermore, the online mode of treatment delivery, along with a variety of relevant modules, may facilitate clients' engagement with treatment at home. The findings suggest that iCT-SAD might be a promising option for Hikikomori clients who have social anxiety problems, within the recommended stepped-intervention approach.
Extra-abdominal growth of a large low-grade appendiceal mucinous tumour through the femoral canal-a rare case report
Authors: Yan Kang, Junfeng Ma, Xiaolong Li, Zhong Yang, Mingxu Da
Journal: Front Oncol (2024)
Keywords: cytoreductive surgery, hyperthermic intraperitoneal chemotherapy, low-grade appendiceal mucinous neoplasms, oncology, pseudomyxoma peritonei
MeSH terms: Case Reports

Low-grade appendiceal mucinous neoplasms (LAMNs) are rare and heterogeneous diseases that, despite their increased incidence, are well differentiated, tend to be painless, and histologically lack distinctive invasive features without infiltrative growth, destructive infiltration, or associated pro-fibroproliferative responses. However, the biological behaviour of these tumours is difficult to determine preoperatively or intraoperatively, and the possibility of rupture puts patients at risk for peritoneal pseudomucinous neoplasms (PMPs).Patients with low-grade appendiceal mucinous tumours and peritoneal pseudomucinous tumours experience slow disease progression and are incurable and have a high risk of recurrence, morbidity, and ultimately death, despite the reported 5- and 10-year survival rates of 50-86% and 45-68%, respectively. In this article, we report the case of a 80-year-old male with a giant low-grade appendiceal mucinous tumour associated with a peritoneal pseudomucinous tumour, and discuss the diagnostic and management strategies for giant low-grade appendiceal mucinous tumours in the context of a literature review.
Laser Excisional Biopsy of Bleeding Tumor near Newly Erupted Tooth in an 11-Month-Old Patient under General Anesthesia
Authors: Amir Mansour Shirani, Parnian Tadayonnezhad, Sarah Arzani, Seyed Omid Kiansadr, Nasser Kaviani
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Pyogenic granuloma (PG) is a well-known tumor-like growth that commonly appears in the gingiva of the oral cavity. This reactive lesion can develop in response to local irritation, chronic low-grade trauma, long-term low-grade infection, or hormonal imbalances. PG is more frequently observed in individuals during their second and third decades of life, although it can occur at any age. It is more prevalent in young females than males, but on rare occasions, it can be found in children, even infants. Several treatment options exist for PG lesions, which apply after a final diagnosis specified by biopsy and histopathological investigations. Surgical excision is the most common treatment choice for PG lesions. However, comparisons between laser therapy and surgical excision have shown numerous advantages for laser treatment, making it a preferred option for soft tissue lesions. Laser excision offers benefits such as precise and deep incisions, preservation of sterile conditions, improved hemostasis, avoidance of sutures, and less invasive procedures resulting in reduced intra- and postoperative discomfort, pain, and bleeding. This report is aimed at presenting a case of an 11-month-old infant with a gradually growing pyogenic granuloma (PG) lesion that appeared in the palate behind the upper left first deciduous tooth, with a duration of approximately 2 months. The parents reported a history of bleeding associated with the lesion, which emerged after the eruption of the mandibular tooth. An excisional biopsy was done by the application of an 810 nm diode laser under general anesthesia, and the specimen was evaluated by a pathologist. No posttreatment complications or relapses were observed in this case.
Heterogeneous SSTR2 target expression and a novel KIAA1549:: BRAF fusion clone in a progressive metastatic lesion following 177Lutetium-DOTATATE molecular radiotherapy in neuroblastoma: a case report
Authors: Se Whee Sammy Park, Susanne Fransson, Fredrik Sundquist, Joachim N Nilsson, Per Grybäck, Sandra Wessman, Jacob Strömgren, Anna Djos, Henrik Fagman, Helene Sjögren, Kleopatra Georgantzi, Nikolas Herold, Per Kogner, Dan Granberg, Mark N Gaze, Tommy Martinsson, Kasper Karlsson, Jakob J E Stenman
Journal: Front Oncol (2024)
Keywords: 177lutetium-dotatate, kiaa1649
MeSH terms: Case Reports

In this case report, we present the treatment outcomes of the first patient enrolled in the LuDO-N trial. The patient is a 21-month-old girl diagnosed with high-risk neuroblastoma (NB) and widespread skeletal metastasis. The patient initially underwent first-line therapy according to SIOPEN HRNBL-1 but was switched to second-line treatments due to disease progression, and she was finally screened for enrollment in the LuDO-N trial due to refractory disease. Upon enrollment, the patient received two rounds of the radiolabeled somatostatin analogue lutetium-177 octreotate (177Lu-DOTATATE), which was well tolerated. A dosimetry analysis revealed a heterogeneous uptake across tumor lesions, resulting in a significant absorbed dose of 54 Gy in the primary tumor, but only 2 Gy at one of the metastatic sites in the distal femur. While the initial treatment response showed disease stabilization, the distal femoral metastasis continued to progress, leading to the eventual death of the patient. A tissue analysis of the biopsies collected throughout the course of the disease revealed heterogeneous drug target expression of somatostatin receptor 2 (SSTR2) across and within tumor lesions. Furthermore, genomic profiling revealed a novel KIAA1549::BRAF fusion oncogene amplification in the distal femoral metastasis at recurrence that might be related with resistance to radiation, possibly through the downregulation of SSTR2. This case report demonstrates a mixed response to molecular radiotherapy (MRT) with 177Lu-DOTATATE. The observed variation in SSTR2 expression between tumor lesions suggests that heterogeneous target expression may have been the reason for treatment failure in this patient's case. Further investigation within the LuDO-N trial will give a more comprehensive understanding of the correlation between SSTR2 expression levels and treatment outcomes, which will be important to advance treatment strategies based on MRT for children with high-risk NB.
Case Report: Uniportal robot-assisted thoracoscopic double-sleeve lobectomy after neoadjuvant immunotherapy
Authors: Ziyao Fang, Chang Li, Mugurel L Bosinceanu, Cheng Ding, Jun Zhao, Diego Gonzalez-Rivas
Journal: Front Surg (2024)
Keywords: lung cancer, minimally invasive and robotic surgery, robot-assisted thoracoscopic surgery (rats), sleeve resection, uniportal video-assisted thoracoscopy (uniportal vats)
MeSH terms: Case Reports

Minimally invasive thoracic surgery, including video-assisted thoracoscopic surgery and robot-assisted thoracoscopic surgery, has been proven to have an advantage over open thoracotomy with less pain, fewer postoperative complications, faster discharge, and better tolerance among elderly patients. We introduce a uniportal robot-assisted thoracoscopic double-sleeve lobectomy performed on a patient following neoadjuvant immunotherapy. Specialized instruments like customized trocars with a reduced diameter, bulldog clamps, and double-needle sutures were utilized to facilitate the maneuverability through the single incision. This technique integrates the merits of multiport robot-assisted thoracic surgery with uniportal video-assisted thoracoscopic surgery.