OpenMed/multicare-articles huggingface dataset:
Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas
Authors: Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Aleksandr Petel'guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov
Journal: Front Genet (2024)
Keywords: ext1, ext2, exostosis, genome sequencing, mosaic deletion, multiple osteochondromas
MeSH terms: Case Reports

Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes, facilitating relatively precise clinical diagnosis through established diagnostic criteria. Despite this, a notable percentage of MO cases (10%-20%) remains unresolved after sequencing coding regions and copy number analysis of both genes. In our study, we identified mosaic structural variants in two patients who initially yielded negative results on standard genetic analysis for MO. Specifically, mosaic deletions affecting exons 8-11 and exons 2-11 in the EXT1 gene were detected. RNA analysis was performed in one case, while both cases underwent genome sequencing. To date, only six mosaic copy number variations have been reported in association with MO, representing a minority among known variants in both genes. Our report provides a detailed analysis of these findings, highlighting the significance of advanced genetic testing techniques in detecting mosaic variants in the EXT1/2 genes.
Effective treatment of advanced lung adenocarcinoma with paraneoplastic leukemoid reaction with Lorlatinib: a case report
Authors: Ruiqi Niu, Yiruo Zhang, Jingdan Pang, Qing Zhou, Yu Lei, Yingying Du
Journal: Front Oncol (2024)
Keywords: lorlatinib, leukocytosis, non-small cell lung cancer, paraneoplastic syndrome, targeted therapy
MeSH terms: Case Reports

Background:
Lorlatinib is a new generation ALK kinase inhibitor. We describe a 52-year-old patient with ALK-positive advanced lung adenocarcinoma who achieved remission after multi-line therapy combined with paraneoplastic leukemoid reaction treated with Lorlatinib.
Case report:
A 52-year-old male patient was diagnosed with stage IV right lung adenocarcinoma, ALK: (+), previously received oral Crizotinib and Alectinib. Blood routine showed white blood cells abnormally elevated after disease progression, and maximum white blood cell count was 179.14×10^9/L. The patient was enrolled in study entitled "a phase II, multicenter, open-label, dual-cohort study to evaluate the efficacy and safety of LORLATINIB monotherapy in ALK inhibitor-treated locally advanced or metastatic ALK-positive non-small cell lung cancer patients in China". With oral Lorlatinib, the white blood cell count decreased from 179.14×10^9/L to normal after two weeks of administration. PFS was 4.5 months. When follow up imaging showed lesions progression, the white blood cell count increased again, diagnosing a paraneoplastic leukemic reaction. OS was 5.2 months.
Conclusion:
In this case, fourth-line Lorlatinib treatment is effiective in ALK-positive advanced patient with paraneoplastic leukemoid reaction. ClinicalTrials.gov Identifier: NCT03909971.
Management of undifferentiated adrenal gland metastases from malignant melanoma: case report
Authors: Hannah Shortreed, Nishigandha Burute, Olexiy Aseyev
Journal: Front Oncol (2024)
Keywords: adrenal gland metastasis (agm), case report, immunotherapy, malignant melanoma, metastasectomy
MeSH terms: Case Reports

Adrenal gland metastases from malignant melanoma are a common but poorly characterised condition. Their lack of consistent clinical features and poor response to immune checkpoint inhibitors pose a significant diagnostic and therapeutic challenge to practitioners. This case report describes a 78-year-old male with no prior history of melanoma presenting with nonspecific abdominal symptoms and unintentional weight loss who was found to have undifferentiated bilateral adrenal gland metastases from malignant melanoma. Despite ongoing investigations, the primary site of the adrenal gland metastases remained unknown, prompting the consideration of primary adrenal melanoma as a diagnosis. The patient underwent four cycles of treatment with immune checkpoint inhibitors, nivolumab and ipilimumab, followed by maintenance therapy and subsequent adrenal metastasectomy. Despite therapeutic efforts, the patient's tumour was resistant to treatment and became undifferentiated. The patient continued with palliative care until his death, more than three years after the onset of symptoms. The clinical features, pathophysiology, diagnosis, treatment, and prognosis of this patient's disease are discussed in detail to help inform the management of similar cases.
Gingival Zenith Correction by Laser Gingivectomy
Authors: Shylaja Mohan, Vamsi Lavu
Journal: Cureus (2024)
Keywords: diode laser, esthetics, gingival zenith, gingivectomy, interdisciplinary
MeSH terms: Case Reports

A healthy gingival structure showcases a knife-edged gingival margin, firmly adherent to the tooth surface, accompanied by a cone-shaped or pointed interdental papilla, mirroring the lowest point in the gingival margin, termed the gingival zenith. Tooth transposition denotes an anomaly in tooth positioning, commonly involving the canine and the first maxillary premolar. It represents a form of ectopic eruption, wherein two adjacent teeth interchange positions within the same quadrant of the dental arch. Laser wavelengths are utilized for precise incision of gingival tissues to address restorative, cosmetic, and periodontal needs. Post-operatively, rapid healing and diminished discomfort are frequently observed, often eliminating the necessity for periodontal packing or sutures. Gingivectomy is the accepted modality for the establishment of esthetics in situations with abnormal gingival contour. This study highlights the use of contemporary technology namely a 940 nm diode laser for correction of gingival zenith to achieve optimal esthetics post orthodontic treatment.
Case report: From oral infection to life-threatening pneumonia: clinical considerations in Nocardia infection from a case
Authors: Kang Chen, Ying Wang, Jing Dong, Ping-Shang Wu, Jun Yang, Guo-Ping Ai
Journal: Front Med (Lausanne) (2024)
Keywords: nocardia, case report, immunocompetent patient, pulmonary coinfection, severe acute diseaseintensive care
MeSH terms: Case Reports

Nocardia is an anthropozoonotic bacteria that occurs widely in the natural environment. However, because it is a gram-positive aerobic opportunistic pathogen, it rarely occurs in patients with no prior history of immune function disease. Since the symptoms are nonspecific the diagnosis of Nocardia pneumonia is challenging. Previous studies have not reported that this anthropozoonotic bacteria colonizing the human body could cause severe pneumonia by gingival pain and pharyngeal discomfort. This case report describes a previously healthy 60-year-old female farmer who presented to the doctor with gingival pain and pharyngeal discomfort. She was treated with a dental cleaning and oral metronidazole. The patient rapidly progressed to breathing difficulties. Lung shadow was found by computerized tomography examination. The radiologist diagnosed pulmonary tuberculosis as image-based. Through laboratory examination and culture of pathogenic microorganisms in the sputum and blood of the patient, no obvious positive findings were found. The disease progressed rapidly to tracheal intubation ventilator assisted breathing. Subsequently, the patient underwent alveolar lavatory examination under endotracheal intubation fiberbronchoscopy, and the culture of alveolar lavage fluid indicated Nocardia. According to this result, the patient's disease was quickly controlled after selecting the targeted drug compound sulfamethoxazole and intravenous meropenem for treatment. In view of the reason for the high misdiagnosis rate due to the low positive rate of Nocardia culture in most cases, the clinical thinking of diagnosis and treatment from oral infection symptoms to fatal pneumonia reported in this case has certain clinical popularization and enlighten significance, not only improved the diagnosis and treatment of rare diseases, but also be reduced medical disputes.
Advanced Erosive Gouty Arthropathy of the Knee
Authors: Alexei Buruian, Susana Angelo, Emanuel Seiça, Fábio Fernandes, António Mendes
Journal: Cureus (2024)
Keywords: gout, infection, knee osteoarthritis/ koa, mssa bacteremia, total knee
MeSH terms: Case Reports

A 57-year-old male, with chronic bilateral knee pain and a history of poorly controlled hyperuricemia leading to gouty attacks, underwent orthopedic assessment. Radiographic and MRI findings confirmed chronic gouty arthropathy with erosive bony defects, the most significant on the right proximal tibia. Total knee arthroplasty (TKA) was performed without any complications, addressing the bony defect with cement and a semi-constrained prosthesis. However, a gouty attack led to prolonged wound discharge and periprosthetic infection postoperatively, prompting revision surgery with debridement, antibiotics, and implant retention (DAIR). Intraoperative cultures revealed methicillin-sensitive Staphylococcus aureus (MSSA). The treatment included vancomycin and rifampicin. Two years post-surgery, the patient walked pain-free with a knee range of motion of 0-90º. This report highlights the complexity of treating gout-related knee osteoarthritis, emphasizing early intervention to mitigate risks of extensive surgical procedures and infections.
Chronic spontaneous urticaria preceded by localized insulin reactions: case report
Authors: Zoha K Momin, Jeffrey M Chambliss
Journal: SAGE Open Med Case Rep (2024)
Keywords: type 1 diabetes, chronic spontaneous urticaria, insulin, urticaria
MeSH terms: Case Reports

Chronic spontaneous urticaria presents with wheals and/or angioedema for >6 weeks without any specific triggers. The incidence of chronic spontaneous urticaria is increased in patients with comorbid autoimmune conditions. Here, we present a case of chronic spontaneous urticaria in a 9-year-old with type 1 diabetes and autoimmune thyroid disease who first presented with insulin pump site reactions concerning an insulin-related allergy. The patient was successfully treated with antihistamines and later immunosuppression with resumption of insulin pump therapy and remission of chronic spontaneous urticaria symptoms 18 months after onset.
A case of schizophrenia refuting mind-body dualism
Authors: Mohlalefi C Letuka, Tejil Morar
Journal: S Afr J Psychiatr (2023)
Keywords: duration of untreated psychosis, holistic medicine, integrated care, mind-body dualism, psychiatry, schizophrenia
MeSH terms: Case Reports

Introduction:
The case report depicts the complex interplay between mental and physical illness and contests the notion of mind-body dualism in medicine. It emphasises the importance of holistic management of patients and the misnomer of schizophrenia as a purely mental illness.
Patient presentation:
Mr S is a 35-year-old male who presented to a South African specialist psychiatric hospital via the forensic system. He had multiple physical symptoms involving the abdominal, haematological, dermatological and neurological systems, in addition to an eight year duration of untreated psychosis with a marked decline in cognition and functioning.
Management and outcome:
An extensive medical examination during his admission excluded conditions such as early onset dementia, Huntington's disease, pellagra, Wilson's disease, autoimmune encephalitis and substance-related complications. A definitive diagnosis of schizophrenia was made, and both physical and psychiatric symptoms responded well to the administration of an antipsychotic resulting in an eventual discharge from the hospital.
Conclusion:
Mind-body dualism can result in a delayed diagnosis of schizophrenia and subsequent increased duration of untreated psychosis and other complications.
Contribution:
This case emphasises the flaws of mind-body dualism, and the interplay of mental and physical illness.
Idiopathic giant adrenal calcification: a rare case report
Authors: Zhiqiang Ji, Dalong Song, Hua Zuo, Xiaolong Chen, Wei Ji, Jiajun Yang, Qing Wang, Kehua Jiang
Journal: Front Oncol (2024)
Keywords: adrenal gland, case report, epigastric pain, giant adrenal calcification, retroperitoneoscopic
MeSH terms: Case Reports

Background:
We describe a rare case of giant adrenal calcification as the main cause of sudden onset epigastric pain in a 57-year-old female patient.
Case description:
Computed tomography (CT) of the whole abdomen in this patient showed calcified foci measuring approximately 7.8 × 5.4 × 7.1 cm in the hepatorenal recess, and no enhancement effect was seen. Secondary causes of adrenal calcification in this patient were ruled out, and a rare diagnosis of a primary giant adrenal calcification was made. Subsequently, the right adrenal gland and calcified mass were completely resected. The calcification did not recur during 6 months of follow up.
Conclusions:
Although other cases of adrenal calcification of unknown origin have been reported, cases of giant idiopathic adrenal calcification are rare. In this case, huge calcification of the right adrenal gland caused abdominal pain, which disappeared after the mass was excised. The etiology, pathogenesis, clinical symptoms, and prognosis of idiopathic adrenal calcification are still unclear. Additional case reports are needed to gain a better understanding of the diagnosis and treatment of this condition.
Exercise intervention for post-acute COVID-19 syndrome - do FITT-VP principles apply? A case study
Authors: G Torres, N Rains, P J Gradidge, D Constantinou
Journal: S Afr J Sports Med (2023)
Keywords: physical therapy, recovery, rehabilitation, symptom management
MeSH terms: Case Reports

The lack of standardisation of reporting exercise interventions hampers the development of best practice guidelines for long COVID patients. This case study on the effect of an exercise intervention in a long COVID patient applied the Consensus on Exercise Reporting Template (CERT) for reporting interventions. FITT-VP exercise prescription principles for long COVID rehabilitation are also suggested. A 58-year-old male, previously hospitalised for 14 days in the ward for the intensive care for the management of severe COVID-19 infection, joined an exercise rehabilitation programme. A medical history, anthropometric, biochemical, lung function, blood pressure, cardiorespiratory fitness and strength measures were all assessed before and after the eight week exercise intervention programme. Positive changes were found in all lung function test measures. Cardiorespiratory fitness, endurance capacity and muscle strength improved. However, the greatest improvements occurred in functional status, fatigue, dyspnoea and the state of depression levels. This case study suggested that in the absence of other instruments, the FITT-VP principles may be used for long COVID patients, and CERT for reporting interventions, but these should be further researched.
Unusual localized gingival redness: a case report
Authors: Swati Kumar, Nanditha Sujir, Anwesha Saha, Junaid Ahmed, Prem Bhushan
Journal: Front Oral Health (2023)
Keywords: case report, early diagnosis, gingival carcinoma, oral cancer, red lesion
MeSH terms: Case Reports

Inflammation of the gingiva is one of the most common and routine findings in dental practice. These routine appearances of inflammatory gingivae can show peculiarity when associated with an underlying systemic condition or because of reactive, benign, or malignant pathologies. This case highlights minute clinical signs of the gingiva that deviate from the routine presentation and warrant further investigations. A 63-year-old woman presented with a chief complaint of severe pain in relation to the lower front teeth region for 1 month. Intraoral examination revealed a gingival lesion on the labial aspect of 41, 42, and 43, and an intraoral periapical radiograph showed mild bone loss. The lesion persisted despite oral prophylaxis, and a biopsy was advised. The final diagnosis was stage 1 gingival squamous cell carcinoma (GSCC). It is important to note that the non-descript presentation of GSCC in early stages often mimics benign traumatic or inflammatory lesions of the gingiva. Peculiar clinical features of GSCC of note include the lack of traditionally associated risk factors and localized red or ulcerative lesions with increased bleeding tendencies that do not respond to routine periodontal treatment within 2 weeks.
Association of endomyocardial fibrosis and minor myocarditis sequelae with intracardiac thrombus and Ebstein like valvulopathy in a patient with Behçet disease: a case report
Authors: Hélène Ceruti, Philippe van de Borne, Daniela-Corina Mirica
Journal: Eur Heart J Case Rep (2023)
Keywords: behçet disease, case report, ebstein disease, endomyocardial fibrosis, intracardiac thrombus, myocarditis, tricuspid insufficiency
MeSH terms: Case Reports

Background:
Cardiac complications occur in 1-6% of cases of Behçet disease (BD) with intracardiac thrombus being the most frequent complication. Endomyocardial fibrosis, less common and occasionally associated with intracardiac thrombus, is reported in <20 case reports of BD, among which, three cases are described to mimic Ebstein disease based on echocardiography. We present the first case in the literature of a 34-year-old man with BD diagnosed with multiple cardiovascular complications, highlighting the challenging diagnosis and treatment of this pathology, especially regarding anticoagulation therapy.
Case summary:
A 34-year-old man, diagnosed with BD, presented to the Emergency Room with haemoptysis. Computed tomography study of the thorax diagnosed pulmonary arterial aneurysm with multiple arterial thrombi, associated with multiple intracardiac thrombi in the right ventricle and atrium. The echocardiography confirmed the presence of voluminous thrombi in the right ventricle and atrium and showed hypertrabeculation of the right ventricle and a high insertion of the posterior leaflet of the tricuspid valve inducing a moderate tricuspid insufficiency compatible with an Ebstein disease. The cardiac MRI later revealed right ventricular fibrosis consistent with endomyocardial fibrosis and sequelae of myocarditis, also described as BD rare cardiac manifestations. The patient had a favourable outcome under anticoagulant treatment and immunosuppressive drugs.
Discussion:
The association of multiple cardiovascular complications can occur in a single patient with BD. The endomyocardial fibrosis in the right heart chambers acting as a substrate for thrombus formation and subsequent pulmonary embolism; fibrosis extending to the tricuspid valve inducing an Ebstein-like morphology.
Case Report: Amiodarone-induced multi-organ toxicity
Authors: Jingrui Yan, Yuanyuan Xu, Qiang Zhu
Journal: Front Cardiovasc Med (2024)
Keywords: adverse reaction, amiodarone, atrial fibrillation, case report, liver, lung, thyroid
MeSH terms: Case Reports

Background:
Amiodarone is a class III antiarrhythmic drug that is commonly used in the clinic to treat ventricular arrhythmias and atrial fibrillation. We present a case report of the adverse effects of amiodarone and review its characteristics.
Case report:
A 73-year-old Asian female with a history of paroxysmal atrial fibrillation managed with amiodarone, well-controlled hypertension, and no substance abuse presented with gastrointestinal distress and dizziness, without chest pain or palpitations. Despite normal annual check-ups, she developed abnormal liver and thyroid function tests, and imaging revealed lung and liver changes suggestive of amiodarone toxicity. Discontinuation of amiodarone for sotalol led to symptom improvement and normalization of thyroid and liver functions, with imaging indicating recovery from interstitial fibrosis and reduced liver density.
Discussion:
Amiodarone, a widely used for treating ventricular and atrial arrhythmias, and with significant benefits in improving patient survival in cases of ventricular fibrillation. However, its long-term use is associated with serious adverse effects, including thyroid dysfunction, liver injury, and pulmonary toxicity, necessitating careful monitoring and management. Despite its efficacy, the need for research on early detection and management of amiodarone's side effects is crucial, highlighting the importance of regular monitoring and possibly adjusting therapy to mitigate these risks.
Septic Embolic Encephalitis Following Cardiac Valve Replacement
Authors: Dallin Judd, Jake Oldham, James Lish
Journal: Cureus (2024)
Keywords: bioprosthetic valve, cardiac valve replacement, diagnostic imaging, disease progression, enterococcus, septic embolic encephalitis
MeSH terms: Case Reports

This paper presents a detailed case study of a 48-year-old male who underwent ascending aortic aneurysm repair with a bioprosthetic valve five years prior and subsequently developed septic embolic encephalitis, an infrequent yet critical complication following cardiac valve replacement. The patient exhibited an array of initial symptoms, including generalized weakness, fatigue, fevers, chills, diarrhea, and altered mentation. Microbiological analysis of blood cultures revealed the presence of Enterococcus, and echocardiogram examination demonstrated vegetation on the prosthetic valve. To assess disease progression, diagnostic imaging, including CT scans and MRIs, was conducted at various time points. The imaging results unveiled several abnormalities, including subarachnoid and parenchymal bleeding, cortical infarcts, cerebritis, and meningitis. Additionally, splenic and renal infarcts were observed through an abdominal CT scan. This case report accentuates the paramount role of diagnostic imaging in corroborating suspected septic embolic encephalitis while underscoring the significance of appropriate management of patients with a history of cardiac valve replacement, thereby emphasizing the urgency of timely intervention.
Tunnel Vision: A Novel Approach for Blood Clot Retrieval Using Cryotherapy through a Flexible Bronchoscope
Authors: Fernando Figueroa Rodriguez, Parminder Minhas, Houssein A Youness
Journal: Case Rep Pulmonol (2023)
MeSH terms: Case Reports

Cryoprobes inserted through a bronchoscope in the airways have frequently been used for the removal of foreign bodies and clots. We present a case of a 72-year-old man who presented with COVID-19 pneumonia and respiratory failure, requiring intubation and proning. During his stay, he developed pneumothoraces in the left hemithorax, which necessitated the placement of two large-bore chest tubes. However, the pneumothorax recurred. There was no air leak in either chest tube, and attempts to restore their patency through flushing or suctioning were unsuccessful. A disposable flexible bronchoscope was inserted into the chest tubes, allowing visualization of the source of occlusion and identification of a blood clot obstructing both tubes. These clots were successfully removed using a cryoprobe inserted through the working channel of the bronchoscope, leading to the restoration of chest tube patency and resolution of the pneumothorax.