OpenMed/multicare-articles huggingface dataset:
Challenges in autoimmune polyendocrine syndrome type 2 with the full triad induced by anti-programmed cell death 1: a case report and review of the literature
Authors: Qin Pan, Ping Li
Journal: Front Immunol (2024)
Keywords: adrenal crisis, adrenal insufficiency, anti-programmed cell death protein 1, autoimmune polyendocrine syndrome type 2, hypothyroidism, type 1 diabetes mellitus
MeSH terms: Immune Checkpoint Inhibitors / adverse effects, Immune Checkpoint Inhibitors / therapeutic use, Polyendocrinopathies, Autoimmune / diagnosis, Polyendocrinopathies, Autoimmune / drug therapy, Case Reports, Review, Research Support, Non-U.S. Gov't, Diabetes Mellitus, Type 1 / chemically induced, Diabetes Mellitus, Type 1 / diagnosis, Diabetes Mellitus, Type 1 / drug therapy, Female, Humans, Middle Aged, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Immune Checkpoint Inhibitors, Programmed Cell Death 1 Receptor, PDCD1 protein, human

Background:
Immune checkpoint inhibitors (ICPis) induce autoimmune diseases, including autoimmune polyendocrine syndrome type 2 (APS-2), which is defined as a combination of at least two of the following endocrinopathies: autoimmune thyroid disease, type 1 diabetes, and Addison's disease. Cases with the full triad are rare. We present a case of an elderly woman who developed APS-2 with the complete triad shortly after starting anti-programmed cell death 1 (anti-PD1) treatment and review the related literature.
Case:
A 60-year-old woman, without any personal or family history of autoimmune and endocrine diseases, started the immunotherapy of anti-PD1 (camrelizumab) for squamous cell carcinoma of the urethral meatus. She developed primary hypothyroidism with elevated antibodies to thyroid peroxidase and thyroglobulin after 25 weeks of treatment, and developed primary adrenal insufficiency with adrenal crisis and fulminant type 1 diabetes with ketoacidosis after 45 weeks. Therefore, this patient met the diagnosis of APS-2 and was given multiple hormone replacement including glucocorticoid, levothyroxine and insulin therapy. Continuous improvement was achieved through regular monitoring and titration of the dosage.
Conclusions:
Different components of APS-2 may appear at different time points after anti-PD1 administration, and can be acute and life-threatening. A good prognosis can be obtained by appropriate replacement with multiple hormones.
Insights:
With the clinical application of ICPis to APS-2, the complexity of its treatment should be paid enough attention.
Diabetic mastopathy: about two cases
Authors: Karam Harou, Amirath Adoufè Sanni, Illyass Essaoudy, Soukaina El Aziz, Abderrahim Aboulfalah, Hamid Asmouki, Abderraouf Soummani
Journal: Pan Afr Med J (2024)
Keywords: mastopathy, case report, diabetes, insulin
MeSH terms: Breast Diseases / diagnosis, Breast Diseases / pathology, Diabetes Mellitus, Type 1 / complications, Diabetes Mellitus, Type 1 / diagnosis, Case Reports, Abscess / diagnosis, Abscess / pathology, Adult, Biopsy, Breast Neoplasms / complications, Breast Neoplasms / diagnosis, Breast Neoplasms / pathology, Down Syndrome / complications, Female, Humans, Mastodynia / diagnosis, Mastodynia / etiology, Morocco

Diabetic mastopathy is a rare and benign pathology affecting young individuals with type 1 diabetes or autoimmune diseases. It clinically resembles breast cancer, necessitating a histological examination for a definitive diagnosis. These cases underscore the diagnostic challenges and the importance of histological examination. This report details two cases of diabetic mastopathy at Mohammed VI Hospital in Marrakech. The first case involved a 35-year-old with type 1 diabetes and mastodynia, revealing a 4 x 3 cm nodule in the left breast. Biopsies confirmed fibrous breast tissue with lymphocytic infiltrates, characteristic of diabetic mastopathy, with no recurrence during follow-up. The second case featured a 38-year-old with trisomy 21 and type 1 diabetes presenting with a right breast abscess. Drainage revealed lymphocytic infiltrates, confirming diabetic mastopathy. Though diagnostically challenging, diabetic mastopathy lacks a direct link to breast cancer. Long-term cancer risks in affected patients mirror the general population.
Mechanical Ventilation during Bronchiolitis: The Macklin Effect
Authors: Badri Haider, Paolo Simoni
Journal: J Belg Soc Radiol (2024)
Keywords: barotrauma, bronchiolitis, macklin effect, mechanical ventilation
MeSH terms: Case Reports

This is a case of barotrauma imaging (Macklin effect) after invasive mechanical ventilation in a 14-week-old newborn with complicated bronchiolitis. Teaching point: Imaging could help us improve defining the anatomical boundaries of the Macklin effect, an incompletely known anatomo-physiological entity.
Case report: Three cases of systemic lupus erythematosus presenting primarily with massive ascites and significantly elevated CA-125 levels and a review of pseudo-pseudo Meigs' syndrome in literature
Authors: Qiyu Li, Bailing Tian
Journal: Front Immunol (2024)
Keywords: ca12 - 5, pseudo-pseudo meigs' syndrome, sle - systemic lupus erthematosus, ascite, multiple serous cavity effusion
MeSH terms: Ascites / diagnosis, Ascites / etiology, CA-125 Antigen / blood, Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Meigs Syndrome / diagnosis, Meigs Syndrome / etiology, Case Reports, Review, Adult, Biomarkers, Female, Humans, Middle Aged, Pleural Effusion / diagnosis, Pleural Effusion / etiology, CA-125 Antigen, Biomarkers

This article presents three detailed case reports and a brief review of the literature on a rare manifestation of systemic lupus erythematosus (SLE) known as Pseudo-Pseudo Meigs' Syndrome (PPMS). The patients' condition was characterized by elevated CA-125 levels, massive ascites andpleural effusion which is typically associated with ovarian malignancies but can also present in various non-malignant conditions, including SLE. A thorough literature review was conducted, summarizing similar cases and their clinical outcomes to provide a broader understanding of this uncommon syndrome. The findings emphasize the need for heightened awareness and consideration of pseudo-pseudo Meigs' syndrome in patients with SLE presenting with unexplained ascites and pleural effusion.
Severe drug eruption from oral terbinafine for mild onychomycosis-A case report from family practice and literature review: "Just an innocent little pill?"
Authors: Roeland M Watjer, Just Ah Eekhof, Koen D Quint, Mattijs E Numans, Tobias N Bonten
Journal: SAGE Open Med Case Rep (2024)
Keywords: case reports, drug eruption, drug-related side effects, onychomycosis, terbinafine
MeSH terms: Case Reports

Onychomycosis is the most prevalent nail disease and is frequently encountered in clinical practice. Despite having multiple therapeutic options, of which systemic antifungals are the most effective, treatment is not always mandatory in all patients. Especially when considering systemic treatment, the risk of adverse reactions may outweigh the potential benefits of treatment. In this case report, we present a clinical case of a 49-year-old male patient with a blank past medical history who experienced a severe drug eruption from terbinafine prescribed for mild onychomycosis that required discontinuation of terbinafine, additional evaluation, and treatment of this adverse reaction.
Case report: Primary vulvar adenocarcinoma of mammary gland type-its genetic characteristics by focused next-generation sequencing
Authors: Lina Hu, James Tiesinga
Journal: Pathol Oncol Res (2024)
Keywords: mlva, immune markers, immunohistochemical features, mutations by ngs, triple positive
MeSH terms: Adenocarcinoma / pathology, Mammary Glands, Human / metabolism, Mammary Glands, Human / pathology, Vulvar Neoplasms / genetics, Vulvar Neoplasms / metabolism, Vulvar Neoplasms / pathology, Case Reports, Breast / pathology, Female, High-Throughput Nucleotide Sequencing, Humans, Middle Aged

Mammary-like vulvar adenocarcinoma (MLVA) is an exceedingly rare subtype of vulvar adenocarcinoma that shares features with mammary gland tissue. Due to its rarity and lack of consensus, MLVA presents diagnostic challenges to pathologists. We present the case of a 59-year-old female with an ulcerated mass on the right side of the external genitalia, diagnosed as MLVA. Comprehensive immunohistochemistry (IHC) and gene sequencing studies were performed to characterize the tumor. IHC analysis revealed triple expression of hormonal receptors (estrogen receptor, progesterone receptor, and HER2), supporting the mammary gland origin of the tumor. Gene sequencing identified unique genetic mutations associated with the expression of hormonal markers. One fusion gene (ERBB2-NAGLU) has not been reported in any tumors, and other mutations with unique mutation types have not been previously reported in MLVA. Our findings shed light on the molecular characteristics of MLV and may help improve the diagnosis and treatment of this rare type of vulvar adenocarcinoma.
Case report: Dupilumab therapy for alopecia areata in a 4-year-old patient resistant to baricitinib
Authors: Lu Cai, Yi Wei, Min Zhao, Jia Zhuo, Xiao Tao, Mao Lin
Journal: Front Med (Lausanne) (2023)
Keywords: th1, th2, alopecia areata, dupilumab, pediatric patients, resistant to baricitinib
MeSH terms: Case Reports

Alopecia areata (AA) is a non-scarring hair loss disorder. Alopecia totalis (AT) and alopecia universalis (AU) are the severe subtypes of AA. Age of onset before 6 years of age, disease duration of more than 1 year, and extensive alopecia involving more than 50% of the scalp (including AT or AU) suggest a poorer prognosis. Topical corticosteroids are the preferred first-line treatment for pediatric AA. While some treatments, such as intralesional corticosteroids, systemic steroids, contact immunotherapy with squaric acid dibutyl ester, and JAK inhibitors, showed efficacy in adults with AA, their safety profiles limit their use in pediatric AA patients. Dupilumab is a biologic that effectively addresses the patho-physiology of Th2 allergic diseases, and treats atopic diseases by inhibiting the helper Th2 immune axis. AA has been reported to be significantly improved with dupilumab for atopic dermatitis (AD) in children and adults. We report hair regrowth over all of the scalp, eyebrows, and eyelashes after 10 months of dupilumab therapy in a 4-year-old AU patient resistant to baricitinib.
Angiomyolipoma With Epithelial Cysts: A Rare but Distinct Variant of Angiomyolipoma
Authors: Vijai R, Pritam Sharma, Parth A Patel, Pratik Patil
Journal: Cureus (2024)
Keywords: angiomyipoma, epithelial cyst, infertility, pancytokeratin, renal lesion
MeSH terms: Case Reports

Renal angiomyolipomas, common benign tumors, can exhibit slow growth in sporadic cases or have aggressive tendencies when linked to genetic conditions like tuberous sclerosis. This case report focuses on the exceptionally rare angiomyolipoma with epithelial cysts (AMLEC) variant, particularly challenging to diagnose due to its scarcity. Describing a 41-year-old woman's case, initially suspected to be renal cell carcinoma during an infertility evaluation, subsequent partial nephrectomy revealed a tumor comprising smooth muscle, blood vessels, and fat, with cystic regions featuring cuboidal linings and a layer devoid of abnormal cell activity. Immunohistochemistry confirmed specific markers within different tumor components, highlighting the diagnostic complexities of AMLEC and emphasizing the crucial role of histopathological examinations in accurate characterizations.
Targeted Physiotherapy for an Interesting Case of Spontaneously Resolving Extracapsular Infarct: A Case Report
Authors: Neha P Arya, Nikita H Seth, Ghanishtha C Burile, Raghumahanti Raghuveer
Journal: Cureus (2024)
Keywords: balance, case report, external capsule, gait, ischemic stroke, physiotherapy, rehabilitation, strength
MeSH terms: Case Reports

Stroke is a prevalent and disabling illness that is becoming more common in developing countries. After a stroke, physical inactivity frequently results in long-term deconditioning and disappointing consequences. This case study focuses on an infrequent 0.3% of ischemic stroke cases that occur in the external capsular (ECC) or extreme capsular (EXC) region. In sub-insular infarcts, ECC-EXC lesions are distinct and frequently linked to the anterior opercular syndrome. We are presenting the case of an 86-year-old female patient who had a fall and loss of consciousness. Diagnostic tests revealed that the patient had an extracapsular ischemic event; due to unstable vital signs and frequent drop in saturation of peripheral oxygen (SpO2) levels, the patient was intubated and admitted to the intensive care unit (ICU). When stable, the patient experienced generalized weakness, for which she was referred for physical therapy. Balance and gait impairments were secondary to weakness. A planned two-week structured physiotherapy intervention was created with an emphasis on gait training, muscle strengthening, and balance. Adaptive gait training, progressive exercises, and balancing activities addressed the patient's limitations. This case study demonstrates how an elderly individual with an external capsule ischemic event can benefit from targeted physical therapy for increasing muscle strength, balance, and gait performance. Positive results emphasize how crucial early and targeted physiotherapy is for supporting stroke survivors' neurological recovery.
Case report: MRI changes of the inner ear in an MD patient with suspected immune dysfunction
Authors: Yurun Chen, Pengfei Zhao, Xin Ma, Tongxiang Diao, Lisheng Yu
Journal: Front Neurol (2023)
Keywords: mri, meniere’s disease, endolymphatic hydrops, immune and inflammatory responses, pathophysiology
MeSH terms: Case Reports

Objectives:
The primary objective of this study was to present the progressive changes from labyrinthitis to endolymphatic hydrops (EH) demonstrated in the inner ear MRI of a patient with MD and suspected immune dysfunction.
Patient:
This 31-year-old male was diagnosed with MD and suspected autoimmune diseases.
Interventions:
Immunosuppressants and biological agents.
Main outcomes measures:
Inner ear MRI images.
Results:
Changes in the patient's progress revealed that inner ear immune and inflammatory changes might induce EH, which may eventually turn into MD.
Conclusion:
This case is the first documented case of MRI revealing progressive changes from inflammatory response to endolymphatic hydrops in the inner ear. It shows the correlation between MD and inflammation visually. It is of great significance to reveal the pathogenesis of MD to further assist in the guidance of treatment decision making.
Disseminated emergomyces orientalis infection in a patient with systemic lupus erythematosus
Authors: Jun Luo, Na An, Yarong Liu, Yisheng Li
Journal: Front Cell Infect Microbiol (2024)
Keywords: amphotericin b, emergomyces, emergomyces orientalis, emergomycosis, itraconazole, mngs (metagenomic next-generation sequencing)
MeSH terms: Lupus Erythematosus, Systemic / complications, Case Reports, Bone Marrow / microbiology, Bone Marrow / pathology, Humans, Male, Middle Aged, Mycoses / diagnosis, Mycoses / microbiology, Spores, Fungal

A case of Eimonosis orientalis was reported in a 52-year-old male farmer who presented with cough, phlegm, fever, headache, and nausea for more than 4 days. Haemophilic cells and fungal spores were identified in the bone marrow smear and confirmed as Aemon orientalis by culture. The same bacteria were also isolated from blood cultures.
Can Salmonella typhi Cause Acute Appendicitis?
Authors: Reda H Mithany, Amarah Shaikh, Catherine Scott, Mazin Abdalla, Matthew Graham, Ioannis N Gerogiannis
Journal: Cureus (2024)
Keywords: acute appendicitis, appendicectomy, case report, causes of acute appendicitis, salmonella typhi, terminal ileitis, typhlitis
MeSH terms: Case Reports

Salmonella typhi, commonly known for causing typhoid fever, is recognized as a bacterium responsible for a wide range of gastrointestinal and systemic infections. While its systemic manifestations have been well-documented, its association with localized gastrointestinal complications, such as appendicitis, remains relatively rare and less explored. This case report presents a compelling clinical case of a 55-year-old patient who presented with symptoms of gastrointestinal distress and was diagnosed with S. typhi-induced appendicitis. The patient's history, clinical presentation, laboratory investigations, radiological findings, management, and outcomes are thoroughly discussed. The report also touches upon the broader context of appendicitis etiology and highlights the significance of prompt diagnosis and intervention in cases of Salmonella-induced appendicitis.
Case report: Unilateral paralysis of the hypoglossal nerve as the only clinical sign of clivus meningioma - a case report and literature review
Authors: Jelena Stamenović, Biljana Živadinović, Vanja Đurić
Journal: Front Oncol (2024)
Keywords: clivus meningioma, case report, dysarthria, dysphagia, hypoglossal nerve paralysis
MeSH terms: Case Reports

Introduction:
Clivus meningiomas are benign tumors that occur at the skull base in the posterior cranial fossa. Symptoms usually progress several months or years before diagnosis and may include: headache, vertigo, hearing impairment, ataxia with gait disturbances, sensory problems. In the neurological findings, paralysis of the lower cranial nerves is most often seen, which in the later course can be accompanied by cerebellar and pyramidal signs until the development of a consciousness impairment.
Case presentation:
We presented the case of a patient who at the time of diagnosis had only unilateral hypoglossal nerve paralysis with dysarthria and mild dysphagia. After the neurosurgical procedure, pathohistological analysis confirmed meningothelial meningioma.
Conclusion:
Early recognition of clivus tumors, which include meningiomas, is necessary in order to implement an adequate therapeutic procedure and prevent further deterioration of the patient's condition.
Paediatric fibrosarcoma treatment
Authors: Adrián Cano-Padilla, Augusto Ramírez, Paola Cervantes-Rivera, Rosalba Bellido-Magaña, Gilberto Flores-Vargas, Nicolás Padilla-Raygoza
Journal: Ecancermedicalscience (2023)
Keywords: children, fibrosarcoma, soft tissue, surgery
MeSH terms: Case Reports

Introduction:
Soft tissue sarcomas make up 7%-15% of childhood solid tumours. The aetiology of this disease is unknown. It is a fast-growing, painless tumour; histologically similar to adult fibrosarcoma, but having a lesser risk of metastasis and a better prognosis. The treatment is aimed towards localised intervention; complete surgical resection is the appropriate treatment as long as it can be performed.
Case report:
An 11 years old female was referred for resection of a soft tissue tumour on the right elbow with significant peripheral vascularisation. Tumour resection was scheduled, with the placement of a partial thickness skin graft, and a piece was sent to pathology; a histological type consistent with paediatric fibrosarcoma was obtained with margins less than 1 mm from the lesion. Therefore, the patient was referred to the paediatric oncology unit. Further studies with positron emission tomography were requested, in which no evidence of macroscopic anatomy-metabolic tumour activity was found. Subsequently, treatment was started by paediatric oncology with 2 sessions of chemotherapy and 20 sessions of radiotherapy with sufficient progress; finally, assessment by plastic and reconstructive surgery was performed and an adequate quality of graft was observed, without the need for any other intervention by their service.
Conclusion:
The involvement of the vascular surgeon in performing the tumour resection permitted the preservation of the best circulation to the extremity, thereby, avoiding amputation. The difficult decision made by the reconstructive surgeon to place a partial thickness graft over the surgical site, and to start radiotherapy/chemotherapy by paediatric oncology, were key to the success in achieving the patient's satisfactory progress.
Case report: Rare presentation of double primary malignancies of the lung and thyroid: a difficult diagnosis
Authors: Shun-Ping Chen, Peng Li, Yi-Fei Pan, Xin Jiang
Journal: Front Oncol (2024)
Keywords: alk, brafv600e, mpcs, ptc, double cancer, lung adenocarcinoma, multiple primary cancers, papillary thyroid carcinoma
MeSH terms: Case Reports

This report describes a rare case of double primary cancer in a female patient aged 49 years who died 2 years after diagnosis. The patient was diagnosed with BRAFV600E-mutant metastatic papillary thyroid carcinoma (PTC) and ALK fusion-positive metastatic lung adenocarcinoma. She presented with multifocal thyroid lesions and underwent radical thyroidectomy and bilateral cervical lymphadenectomy. Thyroid ultrasound revealed the presence of five hypoechoic nodules with irregular margins and microcalcifications; an irregular inhomogeneous hypoechoic level IV cervical lymph node was also found on the right side. Histological analysis confirmed the presence of metastatic PTC, and the tumor tested positive for the BRAFV600E mutation. Ultrasound of the neck, which was performed 4 months postdischarge, revealed enlargement of the left-sided cervical lymph nodes; a biopsy from these nodes confirmed a diagnosis of metastatic PTC. Positron emission tomography-computed tomography scans revealed the presence of multiple pulmonary hypermetabolic foci scattered across bilateral lung fields. Multiple hypermetabolic foci were also observed in the lymph nodes on both sides of the neck, axillae, and mediastinum; in addition, there was evidence of bone destruction with hypermetabolic foci. Supplementary reports from the histological and immunohistochemical analyses of cervical lymph node tissue obtained during primary surgery confirmed the presence of metastatic PTC and poorly differentiated lung adenocarcinoma. In particular, one enlarged cervical lymph node located on the right side of the neck demonstrated tumor components of both PTC and lung adenocarcinoma. Pathological analysis of axillary lymph node puncture biopsy confirmed the presence of metastatic lung adenocarcinoma, and gene analysis revealed the presence of ALK fusion. The patient received targeted therapy based on a multidisciplinary discussion. However, she had a poor prognosis and died 2 years after the diagnosis. The initial thyroid ultrasound findings were reviewed retrospectively; the findings suggested that the possibility of double primary cancers should be considered in cases where the enlarged cervical lymph nodes are highly suspicious of PTC and present as inhomogeneous hypoechoic masses with irregular morphology.