OpenMed/multicare-articles huggingface dataset:
Imatinib-induced dermatomyositis sine dermatitis - a rare case report
Authors: Augusto Silva, Vasco C Romão, Raquel Campanilho-Marques
Journal: Front Immunol (2024)
Keywords: autoantibodies, dermatomyositis sine dermatitis, imatinib mesylate, inflammatory myopathies, proximal muscle weakness
MeSH terms: Dermatomyositis / chemically induced, Dermatomyositis / diagnosis, Dermatomyositis / immunology, Imatinib Mesylate / adverse effects, Imatinib Mesylate / therapeutic use, Case Reports, Aged, Antineoplastic Agents / adverse effects, Antineoplastic Agents / therapeutic use, Dermatitis / diagnosis, Dermatitis / drug therapy, Dermatitis / etiology, Female, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy

Idiopathic Inflammatory Myopathies are rare conditions with several heterogeneous disease subtypes. They can range from limited muscle or skin involvement to severe, systemic, life-threatening disease. Although the etiology is unknown, some evidence suggests a role for external agents, particularly drugs. Herein, we present a case of a 71-year-old woman with chronic myeloid leukemia who developed imatinib-induced dermatomyositis sine dermatitis. The presentation was predominantly muscular, characterized by proximal muscle weakness and myalgia of the lower limbs, with positive anti-Mi2a antibodies. Spontaneous recovery was observed after drug discontinuation, without the need for immunosuppressive therapy. This is the first confirmed description of an imatinib-induced dermatomyositis sine dermatitis. It reflects the importance of a high awareness from rheumatologists and hematologists to accurately anticipate and identify similar situations.
Case report: Right vertebral and carotid artery anomalies with an aberrant right subclavian artery in two patients
Authors: Jiang Chen, LunXin Liu, Xiaobo Kou, Chaohua Wang
Journal: Front Neurol (2023)
Keywords: aberrance, anomalous origin, aortic arch, right subclavian artery, right vertebral artery
MeSH terms: Case Reports

Abnormal origins of the vertebral artery with supra-aortic vessel variants are exceedingly uncommon. Herein, we present two cases of the vertebral artery originating from the right common carotid artery associated with the right subclavian artery arising separately as the initial branch of the aortic arch, followed by the right common carotid artery. We reviewed the embryology of the anomalous origins of the vertebral and subclavian arteries. These variants can significantly affect surgical planning and cause severe clinical symptoms.
A Canal of Nuck Cyst Presented as a Femoral Hernia: A Rare Case Report With Diagnostic Dilemma
Authors: Mohammed I Elsayed, Rashid Ibrahim, Amulya Khatri, Madan Palliyil
Journal: Cureus (2024)
Keywords: complex cyst, endometriosis, female gender, femoral hernia, the canal of nuck
MeSH terms: Case Reports

A cyst of the canal of Nuck is an uncommon disorder in females. It results from the failure of obliteration of the peritoneal fold that runs along the round ligament. This case report details a unique and rare presentation of a 38-year-old female who presented with a right groin swelling. Although her preoperative images showed only the right canal of the Nuck cyst, the intraoperative diagnosis was established as a femoral hernia containing a canal of the Nuck cyst. She underwent an elective cyst excision with repair of the femoral hernia. She had an uneventful post-operative recovery. A femoral hernia that contains a cyst of the canal of Nuck is a rare manifestation of this uncommon condition. The most effective treatment options are surgical cyst excision and repair of the femoral hernia.
Lung adenocarcinoma in a patient with Lynch syndrome: a case report and literature review
Authors: Alan Hodges, Kai Sun, Tiffany G Sheu, Eric H Bernicker
Journal: Front Oncol (2023)
Keywords: lynch syndrome, mlh1, nsclc, ctdna, immune checkpoint therapy
MeSH terms: Case Reports

This article presents a case of a 62-year-old Vietnamese woman with a history of Lynch syndrome (LS), who developed lung adenocarcinoma with EGFR L858R mutation. LS is an autosomal dominant cancer predisposition syndrome caused by a pathogenic germline variant in DNA mismatch repair genes, often leading to microsatellite instability. While LS is primarily associated with gastrointestinal, endometrial, ovarian, and urologic tract cancers, lung cancer accounts for less than 1% of LS-related cancers, with only six cases of LS-related lung cancer previously reported in the literature. The patient underwent multiple lines of treatment for her lung adenocarcinoma, including tyrosine kinase inhibitors, stereotactic body radiation therapy, pemetrexed and pembrolizumab, amivantamab, and fam-trastuzumab deruxtecan, but all resulted in only a partial response followed by a progressive disease. This case highlights the complex interplay of genetic cancer predisposition syndromes and the development of spontaneous driver mutations in the disease course and the subsequent management of tumors arising in these patients.
Cystoid Macular Edema: A Rare Adverse Reaction to Rituximab
Authors: Ana Isabel Machado, Mariana Marques, Marina Vieira
Journal: Cureus (2024)
Keywords: adverse drug events, cystoid macular edema, membranous glomerulonephritis, nephrotic syndrome, rituximab
MeSH terms: Case Reports

Membranous glomerulonephritis is the leading cause of nephrotic syndrome in non-diabetic Caucasian adults. For patients at risk of progressing to end-stage renal disease, immunosuppression, particularly rituximab, is the recommended treatment. While extremely rare, cases of cystoid macular edema associated with rituximab have been documented in the literature. In this report, we present the case of a 54-year-old male with membranous glomerulonephritis at a high risk of progressing to end-stage renal disease who experienced cystoid macular edema hours after receiving rituximab infusion. Following the discontinuation of the medication, the patient spontaneously recovered visual acuity without the need for any targeted therapy.
Case Report: Recurrent blepharal kaposiform hemangioendothelioma in an adult patient
Authors: Wei Liu, Dan Zhao, Shirui Zhou, Hong Chen
Journal: Front Surg (2024)
Keywords: adult eyelid, bleomycin, kaposiform hemangioendothelioma, rare, recurrence
MeSH terms: Case Reports

Background:
Kaposiform hemangioendothelioma (KHE) is a rare and invasive vascular tumor that mainly occurs in children and is rarely seen in adults. We report a case of KHE found on the eyelid of an adult patient.
Case report:
We present an adult patient in whom KHE recurred 6 months after tumor resection. He underwent second surgical resection and intraoperative chemotherapy. There was no evidence of recurrence at the 3-year follow-up.
Conclusion:
KHE in adults is easy to be misdiagnosed. KHE can be treated by surgical resection. Complete resection of the tumor and intraoperative chemotherapy may help prevent a recurrence.
Case Report: Tuberculosis lymphadenitis with systemic lupus erythematosus in a young woman: a case report
Authors: Yunita Arliny, Dewi Behtri Yanifitri, Wilia Aprilisa Utami, Samantha Geraldine
Journal: F1000Res (2023)
Keywords: sle, systemic lupus erythematosus, tb lymphadenitis, tuberculosis, tuberculous lymphadenitis
MeSH terms: Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / drug therapy, Lymphadenitis / complications, Lymphadenitis / drug therapy, Tuberculosis, Lymph Node / complications, Tuberculosis, Lymph Node / diagnosis, Tuberculosis, Lymph Node / drug therapy, Case Reports, Adult, Antitubercular Agents / therapeutic use, Female, Humans, Hydroxychloroquine / therapeutic use, Young Adult, Hydroxychloroquine, Antitubercular Agents

Background: Tuberculosis is a chronic infectious disease and can be categorised into pulmonary TB and extra-pulmonary TB based on its spread. TB lymphadenitis is one of the extra-pulmonary TB diseases. Patients with a weakened immune system in systemic lupus erythematosus (SLE) have an increased incidence of TB. Case: Here we present a case report of a 21-year-old female patient with SLE diagnosed with tuberculous lymphadenitis at dr. Zainoel Abidin Hospital, Banda Aceh, Indonesia. The patient complained of a lump in the right neck 4 months ago with a diameter of 4 cm, accompanied by fever, decreased appetite, and weight loss. Other than that, the patient also experiences joint pain, hair loss and sun sensitivity since 12 months ago. Chest radiography showed no abnormalities, and fine-needle aspiration biopsy results confirmed tuberculous lymphadenitis. Antinuclear antibody test was borderline. The patient had been taking steroids and hydroxychloroquine for the past 10 months. Currently, the patient is taking the advanced phase of antituberculosis drugs FDC. After undergoing the intensive phase of antituberculosis drugs, the submandibular lump got smaller to a diameter of 2 cm. Conclusion: TB lymphadenitis is a rare case but can occur in conditions of decreased immunity like SLE. It involves some of the immune disorders caused by the long-term use of immunosuppressive therapy.
Dolichoectatic arterial compression of the chiasm and optic nerve: a case report
Authors: Sara Ceuppens, Ine Lambert, Marcel Ten Tusscher
Journal: GMS Ophthalmol Cases (2023)
Keywords: anterior visual pathway, compressive opticoneuropathy, congenital cerebrovascular anomalies
MeSH terms: Case Reports

Dolichoectatic arterial compression of the anterior visual pathway is a rare but recognized condition. The functional impact, however, is still less clear. We describe a case of a 56-year-old male with diminished visual acuity in the left eye and incongruent inferior visual defect in both eyes caused by dolichoectasia due to a congenital hypoplasia of one horizontal segment of the circle of Willis and subsequent arterial compression of the chiasm and left optic nerve.
Posttraumatic Cavovarus Deformity Due to a Varus Malunited Talar Neck Fracture, Treated With Corrective Talar Osteotomy: A Case Report
Authors: Ioannis P Galanopoulos, Dimitra Sellina, Panagiotis Drakopoulos, Spyridon A Psarakis
Journal: Cureus (2024)
Keywords: corrective osteotomy, foot deformity, talar malunion, talar neck fractures, varus malunion
MeSH terms: Case Reports

Although talar fractures are frequent bone injuries, fracture displacements of the talar neck are rare, and they can lead to under-treatment and poor prognosis. Furthermore, maltreatment of the talar fractures leads to complications such as malunion (which is the most common), nonunion, osteonecrosis and hindfoot arthritis, which can cause significant disability. The most common position of the talar neck malunion is the varus malunion. Alternative treatments include open reduction with or without bone grafting, open reduction combined with ankle fusion, talar neck osteotomy and talar neck osteotomy combined with subtalar fusion. However, the outcomes of foot function after corrective arthrodesis are poor. In this paper, we present a patient who underwent an open wedge corrective osteotomy of the talus for a cavovarus deformity developed after a malunion of a comminuted talar neck fracture. The patient walked normally three months postoperatively.
Mitochondrial chaperon TNF-receptor- associated protein 1 as a novel apoptotic regulator conferring susceptibility to Pneumocystis jirovecii pneumonia
Authors: Aseervatham Anusha Amali, Kathirvel Paramasivam, Chiung Hui Huang, Abhinav Joshi, Jayshree L Hirpara, Sharada Ravikumar, Qi Hui Sam, Rachel Ying Min Tan, Zhaohong Tan, Dilip Kumar, Leonard M Neckers, Shazib Pervaiz, Roger Foo, Candice Y Y Chan, Jin Zhu, Cheryl Lee, Louis Yi Ann Chai
Journal: Front Immunol (2024)
Keywords: apoptosis, caspase, glycolysis, mitochondria, opportunistic infection, oxidative phosphorylation
MeSH terms: Apoptosis / genetics, HSP90 Heat-Shock Proteins / genetics, HSP90 Heat-Shock Proteins / metabolism, Pneumocystis carinii / genetics, Pneumonia, Pneumocystis / genetics, Pneumonia, Pneumocystis / immunology, Case Reports, Caspase 3 / metabolism, Caspase 7 / genetics, Caspase 7 / metabolism, Disease Susceptibility, Exome Sequencing, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Mitochondria / metabolism, HSP90 Heat-Shock Proteins, TRAP1 protein, human, Caspase 3, Caspase 7

Molecular chaperons stabilize protein folding and play a vital role in maintaining tissue homeostasis. To this intent, mitochondrial molecular chaperons may be involved in the regulation of oxidative phosphorylation and apoptosis during stress events such as infections. However, specific human infectious diseases relatable to defects in molecular chaperons have yet to be identified. To this end, we performed whole exome sequencing and functional immune assessment in a previously healthy Asian female, who experienced severe respiratory failure due to Pneumocystis jiroveci pneumonia and non-HIV-related CD4 lymphocytopenia. This revealed that a chaperon, the mitochondrial paralog of HSP90, TRAP1, may have been involved in the patient's susceptibility to an opportunistic infection. Two rare heterozygous variants in TRAP1, E93Q, and A64T were detected. The patient's peripheral blood mononuclear cells displayed diminished TRAP1 expression, but had increased active, cleaved caspase-3, caspase-7, and elevated IL-1β production. Transfection of A64T and E93Q variants in cell lines yielded decreased TRAP1 compared to transfected wildtype TRAP1 and re-capitulated the immunotypic phenotype of enhanced caspase-3 and caspase-7 activity. When infected with live P. jiroveci, the E93Q or A64T TRAP1 mutant expressing cells also exhibited reduced viability. Patient cells and cell lines transfected with the TRAP1 E93Q/A64T mutants had impaired respiration, glycolysis, and increased ROS production. Of note, co-expression of E93Q/A64T double mutants caused more functional aberration than either mutant singly. Taken together, our study uncovered a previously unrecognized role of TRAP1 in CD4+ lymphocytopenia, conferring susceptibility to opportunistic infections.
Ophthalmia neonatorum complicated with neonatal orbital cellulitis: A case series
Authors: Ngee Ling Law, Vi Chee Tan, Thiam Hou Lim, Asyikin Nurul Rosli
Journal: Malays Fam Physician (2024)
Keywords: delayed treatment, neonatal orbital cellulitis, ophthalmia neonatorum
MeSH terms: Case Reports

Orbital cellulitis is an extremely rare but potentially lethal condition in neonates. The clinical presentation of neonatal orbital cellulitis can be non-specific, and minimal signs of periorbital inflammation may go unrecognised by inexperienced parents or primary care medical personnel, leading to delayed treatment. Herein, we present a case series describing ophthalmia neonatorum complicated with neonatal orbital cellulitis owing to delayed treatment. The clinical presentation, management and outcomes are described. One neonate had orbital cellulitis, while the other had impending orbital cellulitis, with both cases resulting from delayed treatment of ophthalmia neonatorum. Both neonates were hospitalised for systemic antibiotic treatment and fully recovered with good outcomes. Timely identification and treatment of ophthalmia neonatorum are critical to mitigate potential severe sequelae, such as neonatal orbital cellulitis.
Treatment of Gingival Recession and Root Coverage Outcomes Using Fascia Lata Allograft: A Case Report with Two Years of Follow-Up
Authors: Fatima Liliana De Freitas Correia, Beatriz Raquel Yáñez-Ocampo, Cesar Augusto Esquivel Chirino, Daniela Carmona Ruiz, Delina Montes-Sánchez
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Mucogingival surgery is a procedure for the treatment of gingival recession, which is a shift of marginal gingival tissue to the cementoenamel junction (CEJ), exposing the surface of the root teeth. One treatment for gingival recession is the Langer and Langer bilaminar technique, which involves the use of the fascia lata (FL) membrane. This membrane is harvested from the aponeurosis of the external muscles. The purpose of this case report was to present the clinical results of a 2-year follow-up using the Langer and Langer bilaminar technique modified with FL in a patient with gingival recession. Recessions are a shift of marginal gingival tissue to the CEJ, which exposes the surface of the root teeth. At the 2-year follow-up, the patient presented with a gingival recession in tooth 41, which resulted in complete root coverage, reaching 83.3%; the amount of keratinized tissue increased to 3 mm in each tooth, changing the gingival biotype from thin to thick and scalloped. This case report supports the use of FL as a successful alternative treatment.
Complete Heart Block After Aortic Valve Repair and Septal Myectomy in a Patient With Rheumatic Heart Disease
Authors: Marvi Moreno, Wilbur Ji, Brianna Yee, Kachon Lei, Chowdhury Ahsan
Journal: Cureus (2024)
Keywords: aortic valve repair, complete heart block, hypertrophic obstructive cardiomyopathy, preoperative assessment, rheumatic heart disease, septal myectomy
MeSH terms: Case Reports

Surgical myectomy with concomitant valvular repair has been demonstrated to be safe in the treatment of hypertrophic obstructive cardiomyopathy (HOCM). It is unclear which risk factors predispose patients to develop complete heart block (CHB). We present a unique case of a 66-year-old female with rheumatic heart disease and HOCM admitted for aortic valve (AV) repair and septal myectomy, complicated by a presentation of complete heart block. The histology slide showed fibrosis of the septum, suggesting atrioventricular conduction disease from rheumatic fever, which likely contributed to her presentation. This case highlights the importance of elucidating the etiology of HOCM before undergoing cardiac surgery to guide postsurgical management and improve clinical outcomes.
A Rare Case of Lumbar Region Diastematomyelia in a 25-year-old Woman With Lower Back Pain
Authors: Vladislav Velchev, Bogomil Iliev, Petar-Preslav Petrov, Ilko Ilyov, Plamen Penchev
Journal: Cureus (2024)
Keywords: diastematomyelia, low back pain, rare case, scoliosis, visual analog scale (vas)
MeSH terms: Case Reports

Diastematomyelia is an infrequent congenital anomaly that anatomically presents with a longitudinal division of the spinal cord at the level of one or several sections. It is generally diagnosed and treated in children. We present a 25-year-old female patient who has entered the Neurosurgery clinic after a traumatic experience with severe low back pain evaluated with 7 points on the visual analog scale (VAS). Magnetic resonance imaging (MRI) of the lumbar area discovered evidence for diastematomyelia type 1 at levels L3-L5 with deformations in L4 and L5 vertebrae and mild scoliosis. Because of the lack of neurological deficiency, the patient's treatment was conservative and included a 10-day intake of nonsteroid anti-inflammatory drugs (NSAIDs) in combination with myorelaxant and physiotherapy. On the 15th day, the patient was evaluated with 2 points on VAS. Neurological follow-up examinations were conducted on the third and the sixth month and the patient was evaluated with VAS 1, which proves that conservative treatment is successful for diastematomyelia in adults without neurological deficiency.
Laparoscopic cholecystectomy after conservative subcapsular hepatic hematoma management: A rare case report
Authors: Anung Noto Nugroho, Ida Bagus Budhi Surya Adnyana, Kristanto Yuli Yarso, Monica Bellynda, Riza Setya Agrensa, Faizal Muhammad
Journal: Int J Surg Case Rep (2024)
Keywords: abdominal pain, endoscopic retrograde cholangiopancreatography, jaundice, liver, subcapsular hepatic hematoma
MeSH terms: Case Reports

Introduction and importance:
Endoscopic Retrograde Cholangiopancreatography (ERCP) is a less invasive procedure to diagnose and treat biliary disease. However, it has a mortality rate of 0.43-1 %. ERCP has several complication that can arise, one of which is a subcapsular hepatic hematoma (SCH). Incidence of subcapsular hematoma is about 1 %.
Case presentation:
In this case we reported a 33-years-old female complained of jaundice in the entire and right upper abdominal pain. She underwent ERCP and stent placement due to an obstruction in the biliary system. The day after ERCP, she has complained about persistent sharp pain on the upper abdomen. Abdominal ultrasound showed SCH. She then underwent laparoscopic diagnostic and showed the hematoma at the subcapsular of the right upper lobe.
Clinical discussion:
Then it was decided to conservative therapy with an antibiotic and analgesics. Cholecystectomy was also performed to treat cholelithiasis. Patient discharge from hospital in three days after surgery with a good condition and no symptom about stomachache.
Conclusion:
Conservative treatment is the goal while managing SCH in a good hemodynamic state. Once a hematoma has been identified, treatment with a broad-spectrum antibiotic should be started since the hematoma may turn into a secondary infection that requires invasive techniques and drainage.
Sarcomatoid Carcinoma of the Breast: An Unusual Clinical Presentation
Authors: Abhilasha Bhargava, Suraj Agrawal
Journal: Cureus (2024)
Keywords: breast cancer, breast pathology, metastatic carcinoma, sarcomatoid, spindle cell carcinoma
MeSH terms: Case Reports

Breast sarcomatoid carcinoma, which are malignant tumors that form from the mesenchymal tissue of the mammary gland, are extremely uncommon and come in two varieties: primary and secondary (development associated to therapy). Breast sarcomas are malignancies that are aggressive and have a bad prognosis. Multidisciplinary surgery, chemotherapy, and radiotherapy are among the treatment possibilities. This case report reports a case of 35-year-old female presented to our hospital with a palpable tumor in her right breast and pungent discharge from her nipples. These signs persisted for over five years. A sarcomatoid breast cancer was discovered by postoperative histology.
Primary mediastinal choriocarcinoma requiring differentiation from non-small cell lung cancer: An autopsy case report
Authors: Takahiro Matsuyama, Koji Kubota, Kentaro Tsuruzono, Hiroko Uchida, Tetsuro Hamasaki, Keiko Mizuno, Hiromasa Inoue
Journal: Respir Med Case Rep (2024)
Keywords: autopsy, choriocarcinoma, mediastinal tumor, serum β-human chorionic gonadotropin
MeSH terms: Case Reports

A 65-year-old man with dyspnea and hemoptysis presented with a right upper lobe mass associated with enlarged mediastinal lymph nodes and bilateral pulmonary nodules on chest computed tomography (CT), suspected lung cancer. Bronchial and CT-guided biopsies revealed poorly differentiated carcinoma. His condition deteriorated rapidly before a definitive diagnosis could be made. Autopsy revealed primary mediastinal choriocarcinoma. Primary mediastinal choriocarcinomas are rare, difficult to diagnose early and have a poor prognosis. In patients with a tumor expanding across the lung and mediastinum and exhibiting pathologic findings of a pooly differentiated carcinoma, we should consider choriocarcinoma, evaluating the serum β-human chorionic gonadotropin levels.