OpenMed/multicare-articles huggingface dataset:
Deep Phenotyping of T-Cells Derived From the Aneurysm Wall in a Pediatric Case of Subarachnoid Hemorrhage
Authors: Giorgia Moschetti, Chiara Vasco, Francesca Clemente, Eugenia Galeota, Marco Carbonara, Mauro Pluderi, Marco Locatelli, Nino Stocchetti, Sergio Abrignani, Elisa R Zanier, Fabrizio Ortolano, Tommaso Zoerle, Jens Geginat
Journal: Front Immunol (2022)
Keywords: t-cells, flow cytometry, intracranial aneurysm, phenotype, subarachnoid haemorrhage
MeSH terms: Aneurysm, Ruptured, Intracranial Aneurysm / etiology, Subarachnoid Hemorrhage / metabolism, Case Reports, Research Support, Non-U.S. Gov't, CD8-Positive T-Lymphocytes / metabolism, Child, Humans, T-Lymphocyte Subsets

Intracranial aneurysms (IAs) are very rare in children, and the characteristics of the T-cells in the IA wall are largely unknown. A comatose 7-years-old child was admitted to our center because of a subarachnoid hemorrhage due to a ruptured giant aneurysm of the right middle cerebral artery. Two days after the aneurysm clipping the patient was fully awake with left hemiparesis. T-cells from the IA wall and from peripheral blood of this patient were analyzed by multi-dimensional flow cytometry. Unbiased analysis, based on the use of FlowSOM clustering and dimensionality reduction technique UMAP, indicated that there was virtually no overlap between circulating and tissue-infiltrating T-cells. Thus, naïve T-cells and canonical memory T-cells were largely restricted to peripheral blood, while CD4-CD8-T-cells were strongly enriched in the IA wall. The unique CD4+, CD8+ and CD4-CD8-T-cell clusters from the IA wall expressed high levels of CCR5, Granzyme B and CD69, displaying thus characteristics of cytotoxic and tissue-resident effector cells. Low Ki67 expression indicated that they were nevertheless in a resting state. Among regulatory T-cell subsets, Eomes+Tr1-like cells were strongly enriched in the IA wall. Finally, analysis of cytokine producing capacities unveiled that the IA wall contained poly-functional T-cells, which expressed predominantly IFN-γ, TNF and IL-2. CD4+T-cells co-expressed also CD40L, and produced some IL-17, GM-CSF and IL-10. This report provides to our knowledge the first detailed characterization of the human T-cell compartment in the IA wall.
Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report
Authors: Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann
Journal: Front Genet (2023)
Keywords: alport syndrome, col4a4, fabry disease, gla, case report, chronic kidney disease, microhematuria
MeSH terms: Case Reports

We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria. Genetic testing by whole exome sequencing revealed two novel variants in COL4A4 (NM_000092.5: c.1181G>T, NP_000083.3: p.Gly394Val, heterozygous, likely pathogenic; Alport syndrome, OMIM# 141200, 203780) and GLA (NM_000169.3: c.460A>G, NP_000160.1: p.Ile154Val, hemizygous, variant of uncertain significance; Fabry disease, OMIM# 301500), respectively. Extensive phenotyping revealed no biochemical or clinical evidence for the presence of Fabry disease. Thus, the GLA c.460A>G, p.Ile154Val, is to be classified as a benign variant, whereas the COL4A4 c.1181G>T, p.Gly394Val confirms the diagnosis of autosomal dominant Alport syndrome in this patient.
Reconstruction of a Damaged Lower Polar Artery for Kidney Transplantation Using Tubularised Donor Aorta
Authors: A J Vicéns-Morton, C Callaghan, J Olsburgh
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Introduction:
Live donors, extended donor criteria, and the maximum usage of organs with anatomical variants are some of the mechanisms used to increase the number of organs available.
Case:
We present the case of a kidney transplant, in which the organ had an iatrogenic injury to a lower pole arterial branch during retrieval. The donor was a 35-year-old male (DCD, Maastricht III). The right kidney was accepted; it had three veins in a single cava patch and three renal arteries, the main artery with aorta patch that is 8 cm long. A small lower pole artery was sectioned during retrieval surgery at approximately 1 cm from its origin as well as a third small mid-lower pole artery. The lower pole damaged artery was reconstructed using tubularised aorta patch to a total length of 5 cm. No additional donor vessels had been sent. After construction of the tubulised aorta, E-E anastomosis to the damaged polar artery was done with interrupted 7-0 Prolene sutures.
Conclusion:
While the waiting list for a kidney continues to rise and we continue to have organ shortness, vascular retrieval injury should not be an absolute contraindication for transplant.
Langerhans Cell Histiocytosis Presenting as Progressively Worsening Neck Pain: A Case Report With a Review of Literature
Authors: Nithya Krishnan, Lara Zuberi, Amal Shukri, Arun Gopinath, Dalys Haymes
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: langerhans cell histiocytosis, histiocytosis x, neck mass, rare childhood diseases
MeSH terms: Histiocytosis, Langerhans-Cell / diagnosis, Neck Pain / etiology, Case Reports, Review, Adult, Cervical Atlas / diagnostic imaging, Cervical Atlas / pathology, Drug Therapy, Female, Genetic Testing, Histiocytosis, Langerhans-Cell / drug therapy, Histiocytosis, Langerhans-Cell / pathology, Humans, Immunophenotyping, Tomography, X-Ray Computed

A 29-year-old female with past medical history of chronic serous otitis media presented with worsening neck stiffness and pain over a period of 2 weeks. The patient described non-specific symptoms that were localized to the right side of her neck. She presented to the hospital only when the pain was so extreme that it limited her range of motion. The differential for acute neck pain without fever, chills or any inciting trauma is vast. They include medical emergencies such as meningitis, acute coronary syndromes and extend to rheumatologic diseases or simply musculoskeletal strain. On review of systems, she denied dizziness, headache, vision changes, dysphagia, or other facial pain. Based on the severity of her pain, she underwent a Computed Tomography scan of the neck, which was concerning for erosive calavarial lesions. Further imaging revealed multiple lytic foci and erosions from the right maxillary sinus to the right mandible to the C1 vertebra. Following requisite surgical intervention, she was found to have Langerhans cell histiocytosis, a rare disease of myeloid cells, usually affecting pediatric populations. Little is known about the adult manifestations of Langerhans Cell Histiocytosis. This review contributes to broadening the literature on this topic which can present with complaints as typical as neck pain.
Langerhans Cell Histiocytosis of the Thyroid Leading to the Diagnosis of a Disseminated Form
Authors: Ibtissem Ben Nacef, Sabrine Mekni, Chedi Mhedhebi, Ines Riahi, Imen Rojbi, Mchirgui Nadia, Karima Khiari
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) is a rare sporadic proliferative disorder of Langerhans cells. LCH rarely involves the thyroid gland. We report herein a case of a disseminated chronic form of LCH with a diagnosis established by histological examination of the thyroid gland. It is about a 37-year-old female who underwent total thyroidectomy for a thyroid nodule of the right lobe. Histological study showed a granulomatous thyroiditis, and the immunohistochemistry study revealed a strong positivity of histiocytes for the CD1 antigen and for the S100 protein. The incidence of LCH involving the thyroid gland, either as an isolated lesion or as a part of multisystemic disease, is extremely rare.
Hemorrhagic Tamponade as Initial Manifestation of Systemic Lupus with Subsequent Refractory and Progressive Lupus Myocarditis Resulting in Cardiomyopathy and Mitral Regurgitation
Authors: Nicole Marijanovich, Alexandra Halalau
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a wide range of clinical and serological manifestations. Cardiac disease among patients with SLE is common and can involve the pericardium, myocardium, valves, conduction system, and coronary arteries. We are reporting a case of SLE in a young woman that is unique is unique in that initial symptoms consisted of pericarditis and hemorrhagic tamponade which remained progressive and resistant to aggressive immunosuppressive treatment and led to severe cardiomyopathy (ejection fraction of 25%) and severe (+4) mitral regurgitation. Her immunosuppressive treatment included hydroxychloroquine, high-dose steroids, intravenous immunoglobulins, azathioprine, and mycophenolate mofetil. Her disease progression was felt to be due to underlying uncontrolled SLE because the complement levels remained persistently low throughout the entire course and PET Myocardial Perfusion and Viability study showed stable persistent active inflammation. Eventually, she was treated with cyclophosphamide which led to improvement in ejection fraction to 55% with only mild mitral regurgitation.
A case of nodular fasciitis that was difficult to distinguish from sarcoma
Authors: Hisato Nagano, Tomoharu Kiyosawa, Shimpo Aoki, Ryuichi Azuma
Journal: Int J Surg Case Rep (2019)
Keywords: case report, histopathological diagnosis, malignant peripheral nerve sheath tumor, nodular fasciitis, sarcoma, spontaneous regression

Introduction:
Nodular fasciitis is a reactive proliferative lesion. It is often difficult to distinguish from sarcoma, such as malignant peripheral nerve sheath tumor (MPNST). Therefore, both pathological findings and clinical features must be considered.
Presentation of case:
A 75-year-old man presented with a 1 × 1 cm mass on his left forearm that had enlarged rapidly without specific symptoms. Magnetic resonance imaging revealed a mass adjacent to brachioradialis. The lesion showed iso-intensity to muscle on T1-weighted images and hyperintensity on T2-weighted images. We made a clinical diagnosis of nodular fasciitis. Under observation, the mass gradually decreased in size and disappeared after two months. Four years later, another lesion appeared at the same site. We performed total excisional biopsy and histopathological examination indicated low grade MPNST or recurrent nodular fasciitis. Since malignancy could not be excluded, wide resection was performed. At 4 years postoperatively, there has been no recurrence.
Discussion:
In this patient, nodular fasciitis of the right forearm was diagnosed clinically and showed spontaneous regression. However, recurrence was noted after four years. While the clinical features suggested recurrent nodular fasciitis, pathological findings indicated the possibility of low grade MPNST.
Conclusion:
When it is difficult to determine whether a lesion such as nodular fasciitis is benign or malignant, the patient should be managed by considering the possibility of malignancy.
Adenoid (Acantholytic) Squamous Cell Carcinoma of Mandibular Gingiva
Authors: T Raut, S Keshwar, M R Jaisani, A Shrestha
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Introduction:
Adenoid (acantholytic) squamous cell carcinoma (ASCC) is a histological variant of squamous cell carcinoma which occurs mainly in the sun-exposed areas of the head and neck region. It is commonly seen among males which mainly occurs in the sixth and seventh decade of life with lip being predominately affected. Limited scientific literature is documenting the intraoral presentation of ASCC in contrast to its usual extraoral lesions associated with the skin. Characteristic pseudo glandular alveolar space formation seen in ASCC often mimics carcinoma of salivary gland origin. In-depth knowledge of histopathological features of ASCC is important to diagnose this uncommon variant. Case Description. An 80-year-old female presented with the chief complaint of the nonhealing lesion in the right lower back region of the jaw for 2 months, associated with pain. A provisional diagnosis of oral cancer was considered, and an incisional biopsy was done. Histopathological presentation of the epithelial tumor island, pseudo glandular duct-like structures, and neoplastic cells showing features of dysplasia and keratin pearl formation confirmed the diagnosis as adenoid (acantholytic) squamous cell carcinoma.
Conclusion:
The histopathological presentation of adenoid (acantholytic) squamous cell carcinoma reflects the prognosis and metastatic behavior of the diseases. The knowledge of histopathological features of ASCC would be a guide to the untrained eye for the diagnosis and management of this uncommon variant to minimize the rate of metastasis or reoccurrence.
Treatment of Vascular Lesions of the Tongue with Nd:YAG Laser
Authors: Joana Dias Coelho, Vasco Serrão
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

The treatment of vascular lesions of the tongue is a very challenging procedure since the maintenance of the lingual tissue is of critical importance. Numerous treatment options have been described in literature but the Nd:YAG Laser appears to be one of the safest therapeutic options. We described a successful treatment of vascular lesions of the tongue with an excellent clinical result after only one treatment session with the Nd:YAG laser, with conservation of the lingual tissue and its functionality.
Case report: a case of multiple splenic abscesses in a child and literature review
Authors: Yingchun Yang, Jian Liu, Zebing Zheng, Chengyan Tang, Daiwei Zhu, Xingrong Xia, Lu Huang, Qing Du, Yongxing Hao, Yuanmei Liu, Zhu Jin
Journal: Front Pediatr (2023)
Keywords: children, enhanced magnetic resonance imaging, laparoscopic total splenectomy, multiple splenic abscesses, splenic abscess
MeSH terms: Case Reports

Splenic abscesses in children are very rare, and multiple splenic abscesses are rarer. These lesions are difficult to diagnose quickly because of their low incidence and the low specificity of the associated clinical and imaging findings. The treatment of splenic abscesses includes conservative treatment, percutaneous drainage, and splenectomy, but the selection criteria for treatment are still unclear. We present a case of a 13-year-old girl with multiple splenic abscesses. Her blood culture report was negative. We eventually confirmed the diagnosis by enhanced magnetic resonance imaging (MRI). The patient underwent a successful laparoscopic total splenectomy, and her symptoms were resolved thereafter.
Quantifying the incremental value of deep learning: Application to lung nodule detection
Authors: Theodore Warsavage Jr, Fuyong Xing, Anna E Barón, William J Feser, Erin Hirsch, York E Miller, Stephen Malkoski, Holly J Wolf, David O Wilson, Debashis Ghosh
Journal: PLoS One (2020)
MeSH terms: Lung Neoplasms / classification, Lung Neoplasms / diagnosis, Radiographic Image Interpretation, Computer-Assisted / methods, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Algorithms, Databases, Factual, Deep Learning, Humans, Image Processing, Computer-Assisted / methods, Lung, Machine Learning, Neural Networks, Computer, Precancerous Conditions, Tomography, X-Ray Computed

We present a case study for implementing a machine learning algorithm with an incremental value framework in the domain of lung cancer research. Machine learning methods have often been shown to be competitive with prediction models in some domains; however, implementation of these methods is in early development. Often these methods are only directly compared to existing methods; here we present a framework for assessing the value of a machine learning model by assessing the incremental value. We developed a machine learning model to identify and classify lung nodules and assessed the incremental value added to existing risk prediction models. Multiple external datasets were used for validation. We found that our image model, trained on a dataset from The Cancer Imaging Archive (TCIA), improves upon existing models that are restricted to patient characteristics, but it was inconclusive about whether it improves on models that consider nodule features. Another interesting finding is the variable performance on different datasets, suggesting population generalization with machine learning models may be more challenging than is often considered.
Clinical Challenge: Patient With Severe Obesity BMI 46 kg/m2
Authors: Gitanjali Srivastava, Caroline M Apovian
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: anti-obesity medications, bariatric surgery, combination therapy, lifestyle intervention, weight loss drugs
MeSH terms: Case Reports

Obesity causes and exacerbates many disease processes and affects every organ system. Thus it is not surprising that clinical providers are often overwhelmed with the multitude of symptomatology upon initial presentation in patients with obesity. However, despite a "complicated medical history," a systematic, organized approach in obesity medicine utilizes a personalized-tailored treatment strategy coupled with understanding of the disease state, presence of comorbidities, contraindications, side effects, and patient preferences. Here, we present the case of a young patient with Class 3b severe obesity, several obesity-related complications, and extensive psychological history. Through synergistic and additive treatments (behavioral/nutritional therapy combined with anti-obesity pharmacotherapy and concurrent enrollment in our bariatric surgery program), the patient was able to achieve significant -30.5% total body weight loss with improvement of metabolic parameters. Though these results are not typical of all patients, we must emphasize the need to encompass all available anti-obesity therapies (lifestyle, pharmacotherapy, medical devices, bariatric surgery in monotherapy or combination) in cases of refractory or severe obesity, as we do similarly for other disease modalities such as refractory hypertension or poorly controlled Type 2 diabetes that requires robust escalation in therapy.
Anticonvulsant hypersensitivity syndrome after phenytoin administration in an adolescent patient: a case report and review of literature
Authors: Malik Ghannam, Shaden Mansour, Aya Nabulsi, Qusay Abdoh
Journal: Clin Mol Allergy (2017)
Keywords: adolescent patient, case report, dress, hypersensitivity, literature review, phenytoin, rare condition
MeSH terms: Case Reports

Background:
Hypersensitivity is a rare adverse drug reaction (ADR) associated with anti-epileptic medications. Phenytoin is one of the commonly used drugs for treatment of epilepsy that encounters a hypersensitivity reaction. This reaction can be ranged from mild cutaneous rash to anticonvulsant hypersensitivity syndrome (AHS) or drug reaction with eosinophilia and systemic symptoms (DRESS) that includes fever, rash, eosinophilia and involvement of multiple internal organs.
Case presentation:
A 15 year old middle eastern female patient from Gaza strip with free past medical and allergic history. She presented to An-Najah National University Hospital (NNUH) in Nablus with intermittent high grade fever, jaundice, rash and skin peeling. On examination, she had axillary and inguinal lymphadenopathy, moderate splenomegaly and diffuse maculopapular rash. The patient was on phenytoin which started 1 month prior to her presentation as a seizure prophylaxis due to previous head injury. Eventually, the patient was diagnosed with AHS/DRESS.
Conclusions:
AHS is a diagnosis of exclusion and it is significantly underreported that requires a high index of suspicion. We liked to share this case and shed the light in more details on AHS/DRESS. Our goal was to help making AHS more reported in the literature in adolescent patients, as well as to make physicians more alert of this condition's seriousness when they prescribe antiepileptic medications in particular. In this report, we included the first case of AHS which was reported in an adolescent patient in Palestine. Moreover, we reviewed the available literature for a better understanding of the pathophysiology and management of AHS. We still believe that the full understanding of the pathogenesis of AHS is lacking, and also we are lacking a clinical tool or scoring system to determine the severity of AHS/DRESS.
Non-traumatic scapholunate dissociation in a 10-year-old female: A case report
Authors: Diletta Bandinelli, Alessia Pagnotta, Edoardo Maria Pieracci, Luca Basiglini, Angelo Gabriele Aulisa
Journal: Front Surg (2022)
Keywords: carpal injuries, child, non-traumatic, scapholunate dissociation, young age
MeSH terms: Case Reports

Introduction:
Severe or minor repetitive trauma, inflammation, infection, tumors, and congenital ligamentous laxity have been etiologically implicated in scapholunate dissociation (SLD). While a few cases of patients with asymptomatic SLD have been reported in the literature, despite radiographically demonstrated widened scapholunate angles and rotatory subluxation of the scaphoid bone, these patients experienced only mild or no pain and no dorsal intercalated segment instability deformity. Here, we report the case of a monolateral non-traumatic SLD in a young 10-year-old girl that led to an important range of motion impairment with no wrist pain. The case represents a rarity for no previous history of trauma, young age, and no pain.
Main symptoms and important clinical findings:
In our patient, an examination revealed a reduced range of motion in the left wrist and no pain during passive or active mobilization. The X-ray showed a 16 mm scapholunate gap in the anteroposterior roentgenogram. In this case, we suggested that congenital or developmental ligamentous laxity may be the cause of SLD. The diagnostic assessment was completed with a wrist MRI and CT.
Therapeutic interventions and outcomes:
The patient underwent an open dorsal surgery: we directly reduced the dislocated bones and fixed them with five percutaneous 1 mm k-wires. Finally, the scapholunate ligaments were repaired using bone-absorbable anchor sutures. The wrist was immobilized in a volar cast for 8 weeks. The patient was able to resume her daily life activities (included sport) within 12 months.
Conclusion:
Carpus injuries are rare in children, and treatment, especially for young-age patients, is fraught with risks and remains controversial. Our case demonstrates that the patient has had a good clinical outcome. The physio-rehabilitation program for this patient has been of long duration. Most previous studies have shown excellent clinical results after an average of 2.4 years.