OpenMed/multicare-articles huggingface dataset:
Curing of chronic hepatitis C combined with coronavirus disease 2019 in a couple over 85 years old: a case series study
Authors: Qing-Lei Zeng, Xue-Yan Lv, Ru-Yue Chen, Ya-Jie Pan
Journal: Front Microbiol (2024)
Keywords: chronic hepatitis c, coronavirus disease 2019, elderly, nirmatrelvir/ritonavir, severe acute respiratory syndrome coronavirus 2, sofosbuvir/velpatasvir

Introduction:
Data on the management of patients aged more than 85 years with chronic hepatitis C virus (HCV) and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequential infections are lacking.
Methods:
The current study described the management of an older couple aged more than 85 years with these above-mentioned two diseases treated with 12 weeks of sofosbuvir/velpatasvir (Epclusa®) and 5 days of nirmatrelvir/ritonavir (Paxlovid®) sequentially. The effectiveness and safety profiles were closely monitored during therapy and till 9 months posttreatment.
Results:
In late March 2023, the husband with the main complaint of repeated gingival bleeding and asymptomatic wife were 86 and 85 years old, and had HCV RNA levels of 91,800 and 6,630,000 IU/mL, respectively. On the fourth day of sofosbuvir/velpatasvir treatment, the husband had a moderate headache, and the wife had severe headache and moderate fever and dizziness. We then found that their SARS-CoV-2 test results were positive. After careful consideration, the expert panel decided to treat the couple with oral nirmatrelvir/ritonavir (300 mg/100 mg, twice daily) beginning on the fifth day of sofosbuvir/velpatasvir treatment for 5 days. During the 5 days of nirmatrelvir/ritonavir treatment, the patient's symptoms and signs gradually improved, and the patient was negative for SARS-CoV-2 RNA on the fifth day of nirmatrelvir/ritonavir therapy. Meanwhile, the husband's HCV RNA was not detectable after one week of sofosbuvir/velpatasvir treatment till posttreatment month 9, and his ALT level was normal beginning at week 1 of sofosbuvir/velpatasvir treatment. Moreover, the wife's HCV RNA was not detectable after week 4 of sofosbuvir/velpatasvir treatment till posttreatment month 9. Notably, no other symptoms or signs occurred during the treatment or follow-up period, and other serum biochemical parameters remained stable until 9 months after the discontinuation of sofosbuvir/velpatasvir treatment.
Conclusion:
The older couple aged more than 85 years with chronic HCV and SARS-CoV-2 sequential infection were safely cured by the sofosbuvir/velpatasvir and nirmatrelvir/ritonavir sequential treatment.
Discussion:
This study suggested that old age should not be a barrier to HCV/SARS-CoV-2 treatment. Given that the proportion of older HCV-infected patients is increasing, clinical trials of direct-acting antiviral agents should include older HCV-infected individuals.
Case report: Malignant transformation of ovarian endometrioma during long term use of dienogest in a young lady
Authors: Yi-Ting Chang, Ting-Fang Lu, Lou Sun, Yu-Hsiang Shih, Shih-Tien Hsu, Chin-Ku Liu, Sheau-Feng Hwang, Chien-Hsing Lu
Journal: Front Oncol (2024)
Keywords: clear cell carcinoma, dienogest, endometrioma, endometriosis, ovarian cancer
MeSH terms: Case Reports

Endometriosis is a benign disease, which is also regarded as a precursor to ovarian malignancy. Dienogest is a progestin treatment for endometriosis with efficacy and tolerability. A 35-year-old Taiwanese lady with ovarian endometrioma had taken dienogest for the last 5 years. During sonographic follow-up, surgery was suggested owing to suspicious of malignant transformation of ovarian endometrioma. While she hesitated and turned to receive two cycles of oocyte retrieval because of nulliparity. Meanwhile, more papillary growth in the ovarian endometrioma with intratumor flow was found during follow-up. Laparoscopic enucleation was performed later, and pathology revealed clear cell carcinoma with peritoneal involvement, at least FIGO stage IIB. She then underwent debulking surgery to grossly no residual tumor and received adjuvant chemotherapy with no tumor recurrence in post-operative 17-months follow-up. Considering fertility preservation, conservative treatment of ovarian endometrioma is typically indicated for those women who have not yet completed childbearing. However, malignant transformation may still occur despite long-term progestin treatment. Therefore, careful image follow-up is still indispensable.
Small cell carcinoma with neuroendocrine differentiation of subglottic larynx- a case report
Authors: Rafał Becht, Kajetan Kiełbowski, Justyna Żychowska, Wiktoria Dembowska, Małgorzata Król, Bożena Birkenfeld, Mateusz Owsiak, Magdalena Lewandowska, Jadwiga Kubrak, Katarzyna Amernik
Journal: Front Oncol (2023)
Keywords: laryngeal cancer, laryngeal neuroendocrine cancer, laryngeal small cell cancer, neuroendocrine neoplasm, small cell cancer
MeSH terms: Case Reports

Small cell cancer (SCC) is a neuroendocrine neoplasm, which is most frequently found in the lungs. Extrapulmonary location of SCC is rare and may involve 2.5-5% of SCCs. We present a case of a 31-year-old male patient with an extremely uncommon subglottic SCC. The patient was qualified for a radical sequential chemoradiotherapy. After treatment, patient's condition suggested complete remission. Recurrence was detected one year later, and the disease rapidly progressed, despite a second line chemotherapy. The patient died 29 months after initial diagnosis. This case aims to raise awareness on the aggressive laryngeal SCC and its good response to first line chemotherapy composed of cisplatin and etoposide, followed by radiotherapy.
Case report: Naturally occurring neurogenic stunned myocardium in a dog secondary to status epilepticus
Authors: Jacob Dunham, Mallory Horridge, Ji-Hey Lim, Bridget M Lyons, Kelly Wiggen
Journal: Front Vet Sci (2024)
Keywords: echocardiogram, epilepsy, epileptic seizures, esmolol, seizures, troponin, ventricular dyskinesia
MeSH terms: Case Reports

A 4-year-old male neutered Boston Terrier was presented with status epilepticus. He was diagnosed with idiopathic epilepsy and hospitalized with supportive care. During hospitalization, the patient developed both supraventricular and ventricular arrhythmias as well as focal left ventricular dyskinesis. Cardiac troponin I was significantly increased, which was supportive of myocardial damage. Neurogenic stunned myocardium was suspected, and the patient was treated and responded to esmolol. Follow-up echocardiography demonstrated the resolution of the ventricular dyskinesia. This report describes the clinical presentation, diagnostic findings, treatment, management, and outcome of the first reported case of naturally occurring neurogenic stunned myocardium in a dog. Electrocardiogram monitoring, cardiac troponin I, and echocardiography should be considered in patients presenting with seizure activity, especially when exhibiting cluster seizures or in status epilepticus.
Pacemaker-induced Cardiomyopathy in Patients with Coronary Artery Disease: A Report of Three Cases
Authors: Enes Elvin Gul, Muhammad Salman Ghazni, Gehad Gamal
Journal: J Innov Card Rhythm Manag (2024)
Keywords: cardiac resynchronization therapy, coronary artery disease, pacemaker-induced cardiomyopathy
MeSH terms: Case Reports

Pacing-induced cardiomyopathy (PICM) is defined as a drop in left ventricular ejection fraction (LVEF) in the setting of chronic, high-burden right ventricular pacing. Cardiac resynchronization therapy (CRT) and conduction system pacing (CSP) have been proposed to manage PICM. Although acute myocardial infarction has been described as a predictor of PICM, there are no guideline recommendations for CRT or CSP in patients with coronary artery disease (CAD) and preserved LVEF. In this report, we present and discuss three cases of PICM in patients with CAD and preserved LVEF.
Solitary Extramedullary Plasmacytoma of the Left Lower Eyelid: A Case Report and Review of Literature
Authors: Ogochukwu Ugochukwu, Chukwunonso Ezeani, Marshall Stagg, Gregory Henkelmann
Journal: Cureus (2024)
Keywords: extramedullary plasmacytoma (emp), eyelid mass, plasma cell myeloma, plasma cell tumor, solitary extramedullary plasmacytoma
MeSH terms: Case Reports

Solitary extramedullary plasmacytoma (SEP) is a collection of plasma cells in soft tissue tumors characterized by monoclonal plasma cells without systemic symptoms or evidence of bone disease. We present a case of SEP in a 49-year-old African American patient who presented with a slowly enlarging eyelid mass and underwent an excisional biopsy with ophthalmology before the diagnosis was confirmed by pathology in the absence of systemic symptoms or bone disease. Our review found only six confirmed cases of SEP of the eyelid described in the literature. In such cases, treatment is typically surgical excision or radiotherapy. Our patient was treated with radiation after the excision was incomplete. This case report adds another rare case of SEP of the eyelid to the literature.
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
Authors: Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D Schlieben, Dominic Lenz, Eva Tschiedel
Journal: Front Pediatr (2024)
Keywords: megdhel syndrome, serac1, hyperammonemia, lactic acidosis, liver failure, neurometabolic disorder
MeSH terms: Case Reports

Background/purpose:
MEGDHEL syndrome is a rare autosomal recessive metabolic disorder, which is characterized by 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy and Leigh-like syndrome. It is caused by biallelic pathogenic variants in the SERAC1 gene. Due to the unspecific symptoms and the diverse manifestations of the clinical phenotype, the diagnosis is challenging. Infantile MEGDHEL syndrome often has a severe disease course with acute liver failure. Differentiation from other metabolic disorders is difficult and requires a multidisciplinary approach.
Case presentation:
A two-day-old small for gestational age neonate was admitted to our pediatric intensive care unit (PICU) due to severe liver failure with distinct hyperammonemia and hypoglycemia without elevation of transaminases or cholestasis. Due to high ammonia level, continuous hemodialysis was established immediately after admission. In addition, protein intake was stopped, and the patient anabolized with intravenous glucose. Temporary stabilization could be achieved after four days. In the further course, severe neurological and cardiocirculatory complications occurred, which ultimately led to the infant's death. In the metabolic diagnostics, a pronounced lactate acidosis and in urine an increased excretion of 3-methylglutaconic acid as well as other metabolites of mitochondrial energy metabolism has been the leading findings besides the hyperammonemia. Post-mortem trio whole genome analysis detected a homozygous pathogenic variant in SERAC1 with evidence of SERAC1 deficiency leading to the diagnosis of infantile MEGDHEL syndrome.
Conclusion:
When pediatricians are faced with hepatopathy or even acute liver failure without elevation of transaminases or cholestasis in newborns, SERAC1 deficiency should be considered as a potential differential diagnosis. The initial treatment is based on the recommended management of suspected metabolic disorders. Even while no cure is available yet, patients should be offered proper supportive management through a multidisciplinary team. In addition, genetic confirmation of the diagnosis is important for the families, especially regarding further family planning.If a newborn presents with hyperammonemia, hypoglycemia and impaired liver synthesis function without elevation of transaminases or cholestasis, the possible presence of MEGDHEL syndrome due to a SERAC1 mutation should be considered.
A Case of Pneumocystis Pneumonia Developed During Rheumatoid Arthritis Treatment With Methotrexate and Golimumab
Authors: Toyoshi Yanagihara, Yusuke Oka, Atushi Moriwaki, Yuki Moriuchi, Hiroaki Ogata, Akiko Ishimatsu, Junji Otsuka, Kazuhito Taguchi, Makoto Yoshida
Journal: Cureus (2024)
Keywords: golimumab, methotrexate, pneumocystis jirovecii pneumonia, rheumatoid arthritis, severe respiratory failure
MeSH terms: Case Reports

Here, we report a case of an 87-year-old female patient with rheumatoid arthritis (RA) treated with methotrexate (MTX) and golimumab who developed severe pneumocystis pneumonia (PCP), also known as Pneumocystis jirovecii pneumonia. The patient presented with chief complaints of dyspnea on exertion, dry cough, and fatigue. A high-resolution chest CT scan revealed diffuse, unevenly distributed ground-glass opacities throughout both lungs. The patient was clinically diagnosed with PCP based on the clinical settings, imaging, and a high level of serum β-D-glucan. While the patient required high-flow oxygen therapy, low-dose trimethoprim/sulfamethoxazole and corticosteroid therapy improved her condition, and the patient was discharged on day 25. Although to our knowledge no case report has been published regarding PCP in patients with RA treated with golimumab, this case emphasizes the importance of attention to opportunistic infections in elderly patients receiving immunosuppressive therapy. MTX use alongside tumor necrosis factor inhibitors like golimumab may increase the risk of serious infections such as PCP. The case underscores the necessity of prophylactic measures and early intervention for PCP, highlighting the delicate balance between immunosuppression benefits and infection risks in RA management.
Atypical lobular endocervical glandular hyperplasia: two case report and literature review
Authors: Ziqing Wan, Shuang Liu, Na Sang, Yi Tang, Peng Wen, Pu Zhang, Chuqiang Shu
Journal: Front Oncol (2023)
Keywords: atypical lobular endocervical glandular hyperplasia, diagnosis, gastric-type adenocarcinoma, human papillomavirus, pathology, therapy
MeSH terms: Case Reports

Atypical lobular endocervical glandular hyperplasia (ALEGH) is considered a precancerous lesion of gastric-type adenocarcinoma (GAS)/minimal deviation adenocarcinoma (MDA) characterized by an insidious onset, atypical symptoms, and often negative human papillomavirus (HPV) screening. Early screening for this disease is challenging, leading to a high rate of missed clinical diagnoses and the development of malignant tumors at the onset. Increased vaginal discharge and the presence of imaging cystic masses at the internal cervical ostium are often observed in patients with ALEGH. Therefore, we reviewed the clinical data of two cases of ALEGH that were identified and diagnosed in the early stages at our hospital. Through a comprehensive analysis of the medical history and diagnosis plan, combined with a review of relevant literature, to improve the early recognition and diagnosis of ALEGH, as well as strengthen the management of cervical precancerous lesions.
Hand-foot synkinesis in a patient with phenytoin intoxication
Authors: Gohei Yamada, Takanari Toyoda, Eiichi Katada, Noriyuki Matsukawa
Journal: Clin Park Relat Disord (2024)
Keywords: cerebellum, hand-foot synkinesis, phenytoin intoxication, synkinesis
MeSH terms: Case Reports

Here we report the first case of phenytoin intoxication that was closely associated with hand-foot synkinesis. This case suggests a close association between cerebellar dysfunction and hand-foot synkinesis. In patients with hand-foot synkinesis, lesions of not only the secondary motor areas but also the cerebellum should be considered.
Open reduction and internal fixation of a radius and ulna fracture in a patient with an elbow arthrodesis: a case report
Authors: Kyle Mangum, Taylor Blackwood, Tammam Hanna, Justin Harder, Evan Hernandez, Brendan MacKay
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: open reduction and internal fixation (orif), titanium elastic nail system (tens), elbow arthrodesis
MeSH terms: Case Reports

This case report outlines the effective use of the Titanium Elastic Nail System (TENS) for treating a peri-implant mid-shaft radius and ulna fracture in a patient with previous elbow arthrodesis and rotational full-thickness flap coverage. Given the paucity of literature surrounding this complex problem, we present a minimally - invasive treatment option which facilitated complete fracture healing, demonstrating the TENS's efficacy in complex orthopedic scenarios.
A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis
Authors: Roger F Tonna, Rakahn Haddadin, Humzah Iqbal, Hatim Gemil
Journal: Cureus (2024)
Keywords: acute pancreatitis, autosomal recessive genetic disorder, c282y and h63d mutations, hereditary hemochromatosis, heterozygous hemochromatosis, heterozygous hfe gene mutation, primary iron overload, rare cause of acute abdominal pain
MeSH terms: Case Reports

Hereditary hemochromatosis (HH) is the most common autosomal recessive genetic disorder globally for Caucasians. HH is known as an iron metabolism disorder where there is an increase in iron absorption in the body. HH is not localized but a systemic disease; the manifestations of HH include cirrhosis, diabetes mellitus, cardiomyopathy, and pancreatitis. This case is about a 53-year-old female with a past medical history of heterozygous hereditary hemochromatosis who presents to the emergency department with abdominal pain, nausea, and vomiting and was found to have acute pancreatitis. This case report helps signify the importance of identifying and treating symptomatic heterozygous carriers of the HH gene mutation.
Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena
Authors: Dirk Dhossche, Clément de Billy, Claudine Laurent-Levinson, Marie T Le Normand, Christophe Recasens, Laurence Robel, Anne Philippe
Journal: Front Psychiatry (2023)
Keywords: 22q133 deletion, heller, phelan mcdermid syndrome, shank3, wernicke-kleist-leonhard school, abnormal movement, autism spectrum disorder, catatonia

Background:
Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards in PMS prompts exploration of the hypothesis that this clinical entity may be an early-onset form of catatonia. The largest cohort of children with childhood catatonia was studied by the Wernicke-Kleist-Leonhard school (WKL school), which regards catatonia as a collection of qualitative abnormalities of psychomotricity that predominantly affecting involuntary motricity (reactive and expressive). The aim of this study was to investigate the presence of psychomotor signs in three young adults carrying a mutation or intragenic deletion of the SHANK3 gene through the prism of the WKL school conception of catatonia.
Methods:
This study was designed as an exploratory case study. Current and childhood psychomotor phenomena were investigated through semi-structured interviews with the parents, direct interaction with the participants, and the study of documents reporting observations of the participants at school or by other healthcare professionals.
Results:
The findings show catatonic manifestations from childhood that evolved into a chronic form, with possible phases of sub-acute exacerbations starting from adolescence.
Conclusion:
The presence of catatonic symptoms from childhood associated with autistic traits leads us to consider that this singular entity fundamentally related to SHANK3 mutations could be a form of early-onset catatonia. Further case studies are needed to confirm our observations.
Q fever, a rare cause of secondary hemophagocytic lymphohistiocytosis
Authors: Juan Francisco Nieves Salceda, Pablo Lozano Cuesta, Sara Hermoso de Mendoza Aristegui, Jonathan Fernández-Suárez, Claudia Madrid Carbajal, Marta María García Clemente
Journal: GMS Infect Dis (2023)
Keywords: coxiella, hepatitis, pneumonia, pulmonary medicine
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome in which Coxiella burnetii is a very infrequent etiology. We present the case of a 62-year-old male with progressive pulmonary infiltrates, fever, hepatitis, and bicytopenia despite broad spectrum antibiotics. A thorough clinical evaluation led to a high suspicion of Coxiella burnetii infection, subsequently confirmed through a positive serum polymerase chain reaction (PCR) analysis. HLH diagnosis was established based on the fulfillment of 5/8 diagnostic criteria, obviating the need for a bone marrow biopsy. Targeted antibiotic treatment and dexamethasone led to full recovery within two weeks, eliminating the need for stronger immunosuppressive therapy.
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
Authors: Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3: c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]) in Case 1 and c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]) in Case 2. Both cases had characteristic recurrent respiratory infections. Neither case had symptoms of oral-facial-digital syndrome type I. We identified a variant (c.2632_2635delGAAG) that has not been previously reported in any case of OFD1-PCD.
Management of a complex transjugular intrahepatic portosystemic shunt dysfunction with endotipsitis through rotational thrombectomy
Authors: Francesco Vizzutti, Emanuele Casamassima, Gianmarco Falcone, Giacomo Gabbani, Martina Rosi, Valentina Adotti, Fabio Marra, Fabrizio Fanelli
Journal: BJR Case Rep (2024)
Keywords: ehpvo, tips, biliary fistula, endotipsitis, portal vein thrombosis, rotational thrombectomy
MeSH terms: Case Reports

Transjugular intrahepatic portosystemic shunting (TIPS) is an established strategy for the management of complications of portal hypertension. Endoprosthetic infection ("endotipsitis") is a rare but serious and difficult-to-treat complication of TIPS placement. Here we report the occurrence of an infected thrombus complicating TIPS placement in a patient with extra-hepatic portal vein obstruction, recurrent variceal bleeding and portal biliopathy accompanied by recurrent cholangitis. Infected thrombotic material within TIPS could be removed only by employing rotational thrombectomy. This procedure revealed the presence of a biliary fistula which carried pathogens in the systemic circulation. The multiple episodes of sepsis did no longer recur following exclusion of the biliary fistula. This case highlights the possibility to use rotational thrombectomy for the management of complex cases of TIPS dysfunction.
A rapid and simple endoscopic resection of gastric fundus submucosal tumors
Authors: Mingwen Guo, Bing Yang, Yi Juan Guo, WenGuang Yang, SiChao Wen, YuHong Ren
Journal: DEN Open (2024)
Keywords: cost saving, endoscopic submucosal dissection, gastric submucosal tumors, rapid endoscopic resection, simple endoscopic resection
MeSH terms: Case Reports

A 56-year-old male patient was diagnosed with a submucosal tumor in the fundus of the stomach. The conventional operation method is endoscopic submucosal dissection. We present a case of rapid tumor resection without employing traditional endoscopic submucosal dissection instruments such as a mucotomy knife and endoscopic injection needle, resulting in substantial cost savings for the patients.