OpenMed/multicare-articles huggingface dataset:
Management of Congenital Methemoglobinemia in the Perioperative Setting: A Case Report and Review of Current Literature
Authors: Moncef Ben Ghoulem Ben Saad, Arunabha Karmakar, Tayseer Salih Mohamed Salih, Wajeeha Arshad, Muhammad Jaffar Khan
Journal: J Blood Med (2024)
Keywords: cyanosis, general anesthesia, methemoglobinemia, methylene blue, perioperative management
MeSH terms: Case Reports

Background:
Methemoglobin is an altered state of hemoglobin where iron in hemoglobin is oxidized and incapable of binding oxygen; leading to complications such as cyanosis, dyspnea, headache, and heart failure. Methemoglobinemia can be congenital or acquired. Congenital methemoglobinemia is a rare disease and its worldwide incidence is unclear. We recently encountered the first documented case of congenital methemoglobinemia at our institution, necessitating perioperative care.
Case presentation:
In the present case, a 22-year-old man with congenital methemoglobinemia underwent general anesthesia for dental extraction. The surgeon was informed to avoid local anesthetics and oxygenation was performed with FiO2 of 1.0. Arterial blood gas analysis showed a PH of 7.337, PaO2 of 302 mm Hg, PaCO2 of 44 mm Hg, oxyhemoglobin level of 63.4%, and methemoglobin level of 37.8%. The patient had a stable course. No methylene blue therapy was required, although cyanosis was observed during surgery.
Conclusion:
In summary, though rare, congenital methemoglobinemia poses fatal risks during surgery. Its management involves preoperative recognition and optimization, oxygenation status, multidisciplinary care, avoiding precipitating or oxidizing agents, discussing treatment options, maintaining cardiopulmonary stability, and ensuring perioperative safety measures with the medical team.
Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant
Authors: Yuxi Jin, Juan Xu, Yimin Hua, Haiyang Zhang, Yifei Li
Journal: Front Cardiovasc Med (2024)
Keywords: ecmo, tnni3, heart failure, heart transplantation, restrictive cardiomyopathy
MeSH terms: Case Reports

Background:
Restrictive cardiomyopathy (RCM) represents a rare cardiovascular disorder stemming from filament-associated genes. Nonetheless, treating RCM presents considerable challenges, particularly concerning device implantation and mechanical support. Furthermore, elucidating the molecular function of specific variants holds promise in benefiting patients and enhancing prognosis, given the significant heterogeneity among RCM variants.
Case presentation:
The proband, an eight-year-old female, was admitted to our hospital post cardiopulmonary resuscitation due to sudden cardiac arrest. Echocardiography revealed bilateral atrial enlargement. Whole-exome sequencing uncovered a novel heterozygous mutation (c.509G>A, p.R170Q) in TNNI3. Evaluation using the MutationTaster application deemed c.509G>A pathogenic (probability = 0.99). Following clinical manifestations, imaging assessments, and genetic screening, the proband received an RCM diagnosis. ECMO was recommended along with continuous renal replacement therapy. However, persistent atrial flutter ensued post-ECMO withdrawal. Attempts to restore cardiac rhythm with cardioversion, metoprolol, and amiodarone proved futile. Subsequent heart failure led to the patient's demise due to cardiac shock. Based on crystal protein structural analysis, we observed that cTnI-R170Q and R170W exerted similar impacts on protein structural stability and formation. However, both differed significantly from cTnI-R170G, primarily influencing amino acid regions 32-79 and 129-149, involved in TnC and actin binding. Therefore, cTnI-R170Q was revealed to induce RCM via the same molecular mechanism as cTnI-R170W.
Conclusion:
Managing RCM remains a critical challenge. This study underscores the discouragement of device implantations for cardiac pump functional support in RCM, particularly for non-short-term scheduled HTx. Additionally, considering catheter ablation for atrial fibrosis-induced AFs is recommended. Mechanistically, cTnI-R170Q primarily diminishes troponin-actin interactions and destabilizes thin filaments.
Case report: Perilymphatic fistula from a round window microfissure
Authors: Toru Seo, Arata Kemmochi, Yosuke Koike, Mizuho Aomi, Tatsuya Shinohe, Manabu Komori
Journal: Front Neurol (2023)
Keywords: exploratory tympanotomy, hearing loss, microfissure, perilymphatic fistula, round window niche
MeSH terms: Case Reports

A microfissure near the round window niche is an anatomical structure that communicates between middle ear and the ampulla of the posterior semicircular canal. It has been suggested that the microfissure can cause inner ear symptoms; however, the etiology has not yet been confirmed clinically. We report, to our knowledge, the first case of microfissure with complaint of hearing loss and vertigo and improvement in hearing after surgical sealing of the microfissure. A 50-year-old man complained of hearing disturbance, tinnitus with flowing-water sound in the left ear, and a floating sensation upon pushing the left tragus. He had moderate sensorineural hearing loss (43.3 dB) in the left ear for 3 days. His hearing worsened and he complained of severe vertigo. An exploratory tympanotomy was performed 8 days after onset. A microfissure and accumulation of clear fluid in the floor of the round window niche were detected, and leakage point was packed with connective tissue. One month after surgery, his hearing (20.0 dB) and disequilibrium had improved. The inner ear symptoms improved after the surgery in this case, suggesting that the microfissure might have caused the symptoms.
Unveiling early stage autoimmune gastritis: novel endoscopic insights from two case reports
Authors: Yunfeng Yu, Xueli Shangguan, Rong Yu, Yangpeng Wu, En Xu, Chuanchuan Tan
Journal: Front Immunol (2024)
Keywords: autoimmune gastritis, collecting venules, early-stage, endoscopy, yellowish-white cobblestone-like elevations
MeSH terms: Autoimmune Diseases / diagnosis, Autoimmune Diseases / immunology, Autoimmune Diseases / pathology, Gastritis / diagnosis, Gastritis / immunology, Gastritis / pathology, Case Reports, Adult, Aged, Autoantibodies / immunology, Biopsy, Female, Gastric Mucosa / immunology, Gastric Mucosa / pathology, Gastroscopy, Humans, Male, Middle Aged, Parietal Cells, Gastric / immunology, Parietal Cells, Gastric / pathology, Autoantibodies

The predominant characteristic of autoimmune gastritis (AIG) is corpus-dominant advanced atrophy, which is mostly observed in the middle to late stages. More reports are needed on the endoscopic features of the early stage. In this report, we present two cases of early-stage AIG in which endoscopic examinations showed no atrophy of the gastric mucosa but displayed a transition of collecting venules from a regular to an irregular arrangement. In addition, yellowish-white cobblestone-like elevations were observed in the fundic gland region. Histologically, the observed manifestations included pseudohypertrophy and protrusion of parietal cells into the lumen, possibly along with hyperplasia of G cells, lymphocytic infiltration and potentially pseudopyloric gland metaplasia. Serologically, the anti-parietal cell antibody returned positive results, whereas the anti-intrinsic factor antibody yielded negative results. In this study, we summarized some endoscopic features of two patients, aiming to provide clues for endoscopists to detect early-stage AIG.
Subtotal diaphyseal replacement of the femur with modular mega-endoprosthesis following interprosthetic fracture. A case report
Authors: Mohamed Ghanem, Christina Pempe, Andreas Roth
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2024)
MeSH terms: Case Reports

Mega-endoprostheses enable wide management options in the treatment of primary and periprosthetic fracture of the lower extremities. In this study, we report on the use of custom-made subtotal diaphyseal endoprosthetic replacement in treatment of interprosthetic femoral fracture. This procedure is off-label, but in this particular case, it was the safest and most stress-stable treatment option. The implant was delivered within three weeks. The surgical procedure for subtotal replacement of the femoral diaphysis was performed without any intra- or postoperative complication. The duration for the surgical intervention was one hour and 40 minutes. The patient was then mobilized with full weight bearing. At one-year follow-up, the patient did not complain of any pain. The Harris Hip Score HHS improved from 26 to 83 at one-year follow-up, the Western Ontario and McMaster Universities Osteoarthritis Index WOMAC improved from 88 to 16. Mega-endoprostheses enable a wide range of management options in the treatment of primary, peri- and interprosthetic fractures of the lower extremities. In many cases, an individual therapeutic plan is necessary ranging up to the use of custom-made implants.
Relapsing polychondritis-associated meningoencephalitis initially presenting as seizure: a case report and literature review
Authors: Dan Zhang, Jiamin Shi, Xinhua Zhang, Jin Wang, Yuquan Shao
Journal: Front Neurol (2023)
Keywords: immunosuppressants, inflammatory meningoencephalitis, neuroimmune disease, relapsing polychondritis, seizure
MeSH terms: Systematic Review

Background and purpose:
Relapsing polychondritis (RP) is a rare rheumatologic disorder that may affect the neurological system with various presentations. In this study, we present a case and summarize the clinical characteristics of RP-associated meningoencephalitis.
Case presentation:
A 48-year-old man presented with first-ever seizures that were well controlled by valproate. Physical examination results were unremarkable, except for binaural deformation. The initial brain magnetic resonance imaging (MRI) without contrast and electroencephalogram (EEG) findings were normal. However, the patient subsequently developed recurrent fever, scleritis, headache, lethargy, and left arm paresis. Repeated brain MRI with contrast demonstrated increased enhancement of the pia mater and abnormal diffusion-weighted imaging (DWI) signals in the bilateral auricles. The cerebrospinal fluid (CSF) analysis showed 2 leukocytes/μL, 736.5 mg/L of protein, and no evidence of infectious disease or autoimmune encephalitis. Meningoencephalitis secondary to RP was considered. The patient's condition improved significantly and quickly with the administration of dexamethasone (10 mg per day). Oral methylprednisolone was continued, and the patient remained well without relapse during the 9-month follow-up period.
Conclusion:
RP-associated meningoencephalitis is rare but fatal. Although symptoms vary, red or deformed ears remain the most common and suggestive features. Non-specific parenchymal changes and/or meningeal enhancement can be observed on brain MRI scans. CSF lymphocytic pleocytosis with mild protein elevation was observed in most patients.
Stem Cell Therapy: A Possible Role in the Treatment of Patients with Chronic Limb-Threatening Ischemia?
Authors: Annabella Olson, Bright Benfor, Eric Peden
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: chronic limb-threatening ischemia, peripheral arterial disease, stem cell therapy
MeSH terms: Endovascular Procedures / adverse effects, Endovascular Procedures / methods, Peripheral Arterial Disease / diagnostic imaging, Peripheral Arterial Disease / surgery, Case Reports, Cell- and Tissue-Based Therapy, Chronic Disease, Chronic Limb-Threatening Ischemia, Humans, Ischemia / diagnostic imaging, Ischemia / surgery, Limb Salvage / methods, Retrospective Studies, Risk Factors, Treatment Outcome

Chronic limb-threatening ischemia (CLTI) is a severe form of peripheral arterial disease that portends high morbidity and mortality. Patients may undergo various endovascular or open procedures with the goal of limb salvage. No-option CLTI patients represent a vulnerable population for whom conventional options have been exhausted, or anatomy precludes any attempts at revascularization, often resulting in amputation. Stem cell therapy is under investigation for these no-option CLTI patients. Regardless of revascularization technique, these patients are clinically challenging and require multidisciplinary efforts to achieve the best outcomes. Here we present a patient with unfavorable anatomy who underwent stem cell therapy injection for a nonhealing right first toe wound, and we include points to remember when considering stem cell treatment in patients with CLTI.
Probable secondary hemophagocytic lymphohistiocytosis manifesting as central nervous system lesions after COVID-19 vaccination: a case report
Authors: Ju Hye Kim, Ji Yeon Chung, Jeong Bin Bong
Journal: Front Neurol (2024)
Keywords: covid-19 vaccines, chadox1 ncov-19, acute disseminated encephalomyelitis, hemophagocytic lymphohistiocytosis, natural killer cell
MeSH terms: Case Reports

Background:
Hemophagocytic lymphohistiocytosis (HLH) is a rare systemic inflammatory disease commonly characterized by histiocyte infiltration in multiple organs, such as the liver, spleen, lymph nodes, bone marrow, and central nervous system. The clinical features of HLH include fever, splenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and elevated blood ferritin levels. HLH is categorized as either primary or secondary. Coronavirus disease 2019 (COVID-19) vaccines may occasionally trigger secondary HLH, which is related to hyperinflammatory syndrome.
Case presentation:
A 58-year-old woman, previously diagnosed with Graves' disease, presented with cognitive decline 2 weeks after receiving the first dose of the ChAdOx1 nCoV-19 vaccine. Brain MRI revealed a hyperintense lesion on T2-weighted and fluid-attenuated inversion recovery images in the bilateral subcortical white matter and right periventricular area. Vaccination-associated acute disseminated encephalomyelitis was suspected and methylprednisolone and intravenous immunoglobulin (IVIg) were administered. From the 5th day of IVIg administration, the patient developed fever and pancytopenia. In the findings of bone marrow biopsy, hemophagocytosis was not observed; however, six of the eight diagnostic criteria for HLH-2004 were met, raising the possibility of HLH. Although there was no definitive method to confirm causality, considering the temporal sequence, suspicion arose regarding vaccine-induced HLH. Splenectomy was considered for therapeutic and diagnostic purposes; however, the patient died on the 28th day of hospitalization owing to multiple organ failure.
Conclusion:
To date, 23 cases of COVID-19 vaccine-related HLH have been reported. Additionally, HLH in COVID-19 patients has been reported in various case reports. To the best of our knowledge, this is the first reported case of central nervous system involvement in HLH related to any type of COVID-19 vaccine. This case suggests that even when there are no systemic symptoms after COVID-19 vaccination, HLH should be considered as a differential diagnosis if brain lesions are suggestive of CNS demyelinating disease.
Hepatic perivascular epithelioid cell tumor resembling hepatic adenoma and hepatocellular carcinoma on preoperative imaging: a case report
Authors: Dongling Zhu, Shuang Song, Dongdong Wang, Dong Kuang, Siyuan Cheng, Jianyuan Zhou, Sijuan Zou
Journal: Front Oncol (2024)
Keywords: 18f-fdg, 68ga-fapi, pecoma, melanocytic, smooth muscle
MeSH terms: Case Reports

Perivascular epithelioid cell tumor (PEComa), an uncommon mesenchymal neoplasm, arises from specialized perivascular epithelioid cells exhibiting distinct features of smooth muscle and melanocytic differentiation with unpredictable behavior. PEComa tends to occur more commonly in the uterus and kidneys; its occurrence in the liver is exceedingly rare. We presented a case of a 29-year-old woman with hepatic PEComa and evaluated the tumor with MRI, integrated 18F-fluorodeoxyglucose (FDG), and 68Ga-fibroblast activation protein inhibitor (FAPI) PET/CT scans at presentation. The patient had a history of intermittent utilization of oral contraceptive drugs for several years. An abdominal ultrasound in a physical examination from an outside institution revealed a mass in the liver. A contrast-enhanced abdominal MRI revealed restricted diffusion on diffusion-weighted imaging (DWI) and rapid contrast enhancement and washout patterns in the hepatic lesion, suggesting hepatic adenoma (HA) or hepatocellular carcinoma (HCC). Further assessment was carried out using 18F-FDG and 68Ga-FAPI PET/CT scans. The hepatic lesion was non-FDG avid, whereas increased tracer uptake was observed on the 68Ga-FAPI PET/CT. Subsequently, laparoscopic partial resection of liver segment V was performed. Immunohistochemical analyses demonstrated positive staining for HMB45, Melan-A, and SMA while showing negative results for AFP, glypican-3, hepatocyte, and arginase-1. The results were indicative of a hepatic PEComa diagnosis based on these findings. We also review the current literature on the clinical characteristics, pathological features, and challenges in the diagnosis of hepatic PEComa.
Anlotinib combined with pembrolizumab as first-line treatment for advanced pulmonary sarcomatoid carcinoma: a case report and literature review
Authors: Yingmei Wen, Yi Dong, Lina Yi, Guifang Yang, Mengxia Xiao, Qingqing Li, Chen Zhao, Dafu Ye, Yi Yao
Journal: Front Oncol (2023)
Keywords: anlotinib, case report, genomic analysis, immune checkpoint inhibitors, pembrolizumab, pulmonary sarcomatoid carcinoma
MeSH terms: Case Reports

Pulmonary sarcomatoid carcinoma (PSC) is an uncommon variant of non-small cell lung cancer (NSCLC), known for its unfavorable prognosis. Previous studies have elucidated that PSC generally exhibits a significant expression of programmed death-ligand 1 (PD-L1), an elevated tumor mutation burden, and marked vascular invasion. These factors imply the possible effectiveness of treatments like immunotherapy and anti-angiogenic therapy. The subject of this case was a 65-year-old male diagnosed with advanced PSC, characterized by high PD-L1 expression and devoid of known driver gene mutations. Owing to the restrictions imposed by the COVID-19 pandemic, the patient initially underwent home-based treatment with anlotinib, which led to symptomatic improvement after a single treatment cycle. Subsequent hospitalization allowed for the administration of anlotinib plus Pembrolizumab, resulting in a partial response. Radiotherapy was necessitated due to local disease progression. But after 15 cycles of treatment with Pembrolizumab, hyperprogression was observed. The patient's overall survival spanned 14 months, with no evident adverse reactions to the medications. Genomic analysis revealed potential associations between treatment efficacy and mutations in the TP53, NF1, and MET genes. This case underscores the effectiveness and safety of a first-line treatment regimen combining pan-target anti-angiogenic therapy (anlotinib) with anti-tumor immunotherapy.
Psychogenic Nonepileptic Seizures Associated with an Eating Disorder and PTSD Are Responsive to Cognitive Processing Therapy
Authors: Marina G Gearhart, Timothy D Brewerton
Journal: Case Rep Psychiatry (2023)
MeSH terms: Case Reports

Objective:
Eating disorders (EDs) are often associated with prior histories of trauma, subsequent PTSD and related psychiatric comorbidities. There is a paucity of information about their relationship to somatic symptom disorders, specifically psychogenic nonepileptic seizures (PNES), a type of functional neurological symptom disorder or conversion disorder.
Methods:
We report a case of a 39-year-old bisexual female with bulimia nervosa (BN), PTSD, recurrent major depressive disorder (MDD), cannabis use disorder, and PNES who responded to integrated trauma-focused treatment during residential ED treatment using cognitive processing therapy (CPT). Symptoms of ED, PTSD, major depression, and state-trait anxiety were measured using validated assessment instruments.
Results:
During the course of CPT treatment, the patient's total scores on the PTSD Symptom Checklist for DSM-5 (PCL-5) went from 59 to 26, which is below the diagnostic threshold for PTSD. In addition, she demonstrated improvements in the Eating Disorder Examination Questionnaire (EDE-Q) Global Severity score, the Eating Disorder Inventory (EDI-2) total score, the Patient Health Questionnaire (PHQ-9) total score, the Spielberger State and Trait Anxiety Inventory scores, and the Eating Disorder Quality of Life (EDQOL) total score. Furthermore, her PNES also abated, and she remained seizure free for ∼1 year following discharge with the exception of one short seizure, per report of the patient.
Conclusion:
The use of CPT as part of an integrated trauma-informed treatment approach during residential ED treatment was successful in a woman with PNES, BN, PTSD, MDD, and cannabis use disorder.
Novel Surgical Approach for Large Intraosseous Subchondral Cysts of Talus: A Case Report and Technical Innovation
Authors: Pradeep Moonot, Shubham Dakhode, Nikhil Karwande
Journal: Cureus (2024)
Keywords: bone grafting, intraosseous lesion, novel surgical approach, subchondral cyst, talar dome
MeSH terms: Case Reports

Large subchondral bone cysts in the medial talar body and dome are common and can cause persistent pain and swelling during axial loading. Open debridement and bone grafting are often necessary to treat these lesions but can require extensive soft-tissue dissection or malleolar osteotomies. A 40-year-old woman presented with ankle pain and swelling for 1 year, worsening with activity and no history of trauma. X-rays showed a cystic lesion in the medial talar dome with no joint line disruption. CT confirmed the cystic lesion without bone collapse or expansion. An anterior approach to the ankle joint was extended to access the talar neck. A window was created in the talar neck to debride and curette the medial talar dome, and the void was filled with allograft. The patient was non-weight-bearing for 6 weeks, followed by gradual weight-bearing and ankle range of motion exercises starting on postoperative day 1. The patient returned to her pre-injury status within 3 months and was asymptomatic at the 6-year follow-up, with good bone graft integration and no symptoms. This technical note presents a novel approach to lesions of the medial talar body and dome through the talar neck, avoiding the need for malleolar osteotomy or disruption to the tibiotalar joint, and resulting in good functional outcomes.
Hidradenitis suppurativa patient requiring cardiac procedure with inguinal access: Case management with ertapenem
Authors: Laurence Mainville, Jimmy MacHaalany, Hélène Veillette
Journal: SAGE Open Med Case Rep (2024)
Keywords: hidradenitis suppurativa, cardiac catheterization, ertapenem
MeSH terms: Case Reports

Hidradenitis suppurativa is a chronic inflammatory skin disease that usually presents in young adults with painful abscesses in intertriginous areas. We present a case of severe hidradenitis suppurativa (Hidradenitis Suppurativa Investigator Global Assessment (HS-IGA) = 5; Hurley stage III) investigated by cardiology and respirology specialists for dyspnea. The patient's symptoms required right-sided cardiac catheterization via the right femoral vein in the inguinal area. The patient was able to undergo this invasive cardiac procedure without infectious complications using multidisciplinary management (dermatology, cardiology, respirology, internal medicine, and infectious diseases specialists), intravenous ertapenem 1 g/day for 6 weeks perioperatively, biologic therapy, and treatment of diabetes with semaglutide. The administration of ertapenem preoperatively and postoperatively of an invasive procedure can be beneficial, particularly when the upcoming intervention requires access to skin areas severely affected by hidradenitis suppurativa. Comorbidities such as obesity and diabetes should be addressed as their treatment might contribute to improve hidradenitis suppurativa.