OpenMed/multicare-articles huggingface dataset:
Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency
Authors: Abdullah A Alangari, Fahad Al-Zamil, Abdulrahman Al-Mazrou, Saleh Al-Muhsen, Stéphanie Boisson-Dupuis, Sitalbanat Awadallah, Abdelmageed Kambal, Jean-Laurent Casanova
Journal: Clin Dev Immunol (2011)
MeSH terms: BCG Vaccine / adverse effects, Interferon-gamma / therapeutic use, Mycobacterium Infections / drug therapy, Mycobacterium bovis / drug effects, Receptors, Interleukin-12 / deficiency, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Female, Humans, Interferon-gamma / administration & dosage, Interferon-gamma / adverse effects, Lymphocyte Activation, Mycobacterium Infections / immunology, Mycobacterium Infections / microbiology, Mycobacterium bovis / immunology, Receptors, Interleukin-12 / genetics, Treatment Outcome, BCG Vaccine, IL12RB1 protein, human, Receptors, Interleukin-12, Interferon-gamma

IFN-γ has been used in the treatment of IL-12Rβ1 deficiency patients with disseminated BCG infection (BCGosis), but the optimal dose to reach efficacy is not clear. We used IFN-γ in the treatment of a 2.7-year-old patient with IL-12Rβ1 deficiency and refractory BCG-osis. IFNγ was started at a dose of 50 μg/m² 3 times per week. The dose was upgraded to 100 mcg/m² after 3 months, then to 200 mcg/m² 6 months afterwards. Serum mycobactericidal activity and lymphocytes number and function were evaluated throughout the study. There was no clinical response to IFN-γ with 50 or 100 μg/m² doses. However, there was some response to the 200 μg/m² dose with no additional adverse effects. The serum mycobactericidal activity was not significantly different during the whole treatment period. Lymphocytes proliferation in response to PHA was significantly higher after 3 months of using the highest dose as compared to the lowest dose. The tuberculin skin test reaction remained persistently negative. We conclude that in a patient with IL-12Rβ1 deficiency, IFN-γ at a dose of 200 μg/m², but not at lower dosages, was found to have a noticeable clinical effect with no additional adverse effects.
Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency
Authors: Kevin Y Wu, Pooja Purswani, Boglarka Ujhazi, Krisztian Csomos, Mihailova Snezhina, Naumova Elissaveta, Stefan Stefanov, Svetlana Sharapova, Maryssa Ellison, Diana Milojevic, Sinisa Savic, Ravishankar Sargur, Jolan E Walter
Journal: Front Pediatr (2019)
Keywords: rag deficiency, primary immunodeficiency, recombination activating gene, refractory arthritis, rheumatoid arthritis, tocilizumab
MeSH terms: Case Reports

Autoimmunity is becoming an increasingly recognized complication in patients with primary immunodeficiencies (PIDs), including a variety of combined immune deficiencies such as Recombination Activating Gene (RAG) defects. The approach to treating autoimmunity in PID patients is complex, requiring a balance between immunosuppression and susceptibility to infection. Inflammatory arthritis is a feature of immune dysregulation in many PIDs, and the optimal treatment may differ from first line therapies that usually consist of disease-modifying anti rheumatic drugs (DMARDs). An example of mechanism-based therapy of arthritis in PID uses blockade of IL-6 signaling with tocilizumab for patients with STAT 3 gain-of-function (GOF) mutation and augmented IL-6 pathway. Herein, we describe two PID cases with arthritis who were found to have defects in RAG. One patient with refractory inflammatory arthritis experienced remarkable improvement in symptoms with tocilizumab therapy. Arthritis can be a clinical feature of immune dysregulation in RAG deficiency, and tocilizumab therapy has been suggested to have utility in treatment of arthritis in RAG deficiency.
Diagnosis of exclusion: a case report of probable glatiramer acetate-induced eosinophilic myocarditis
Authors: Christopher J Michaud, Heather M Bockheim, Muhammad Nabeel, Timothy E Daum
Journal: Case Rep Neurol Med (2014)

Importance. Medication-induced eosinophilia is an acknowledged, often self-limiting occurrence. Glatiramer acetate, a biologic injection used in the management of relapsing-remitting multiple sclerosis, is widely regarded as a safe and effective medication and lists eosinophilia as an infrequent side effect in its package insert. Contrary to reports of transient, benign drug-induced eosinophilia, we describe a case of probable glatiramer acetate-induced eosinophilia that ultimately culminated in respiratory distress, shock, and eosinophilic myocarditis. Observations. A 59-year-old female was admitted to the hospital after routine outpatient labs revealed leukocytosis (43,000 cells/mm(3)) with pronounced hypereosinophilia (63%). This patient had been using glatiramer acetate without complication for over 10 years prior to admission. Leukocytosis and hypereosinophilia persisted as a myriad of diagnostic evaluations returned negative, ultimately leading to respiratory depression, shock, and myocarditis. Glatiramer acetate was held for the first time on day 6 of the hospital stay with subsequent resolution of leukocytosis, hypereosinophilia, respiratory distress, and shock. Conclusions and Relevance. Glatiramer acetate was probably the cause of this observed hypereosinophilia and the resulting complications. Reports of glatiramer-induced eosinophilia are rare, and few case reports regarding medication-induced hypereosinophilia describe the severe systemic manifestations seen in this patient.
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
Authors: Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior
Journal: Arch Endocrinol Metab (2018)
MeSH terms: Gonadal Dysgenesis, Mixed / pathology, Gonadoblastoma / pathology, Testicular Neoplasms / pathology, Case Reports, Biopsy, Female, Gonadal Dysgenesis, Mixed / complications, Gonadal Dysgenesis, Mixed / surgery, Gonadoblastoma / etiology, Gonadoblastoma / surgery, Humans, Infant, Male, Risk Factors, Testicular Neoplasms / etiology, Testicular Neoplasms / surgery, Testis / pathology, Treatment Outcome

A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence.
Adenosquamous Carcinoma of Skene's Gland: A Case Report and Literature Review
Authors: Qian Gao, Xiaoyun Liu, Lin Ye, Tingting Lv, Yanyi Teng, Jian Lan, Tingchao Li, Min Tian, Juqi Chen, Shanshan He, Shengyan Xie, Yan Zou
Journal: Front Oncol (2022)
Keywords: adenosquamous carcinoma, paraurethral gland, skene’s gland adenocarcinoma, skene’s gland carcinoma, urethral adenocarcinoma
MeSH terms: Case Reports

Skene's gland is homologous to the male prostate and can secrete prostate fluid. However, Skene's gland carcinoma is extremely rare, with only 20 cases reported in the literature thus far. We report the first case of adenosquamous carcinoma of Skene's gland. The patient was a 54-year-old woman who was admitted to our hospital due to vaginal bleeding and a vaginal mass, accompanied by multiple lymph nodes and vulvar metastases. She had a history of dysuria and episodic hematuria for 2 years. Contrast-enhanced pelvic MRI showed a mass in the right labia majora and swelling of the right inguinal lymph nodes. In addition, a mass in the anterior vaginal wall surrounded the urethra and grew in a semi-encircled manner. After receiving neoadjuvant chemotherapy, MRI revealed that the mass surrounding the urethra had shrunk, and the nodular shadow of the right labia majora was larger than before. The patient underwent elective surgery. Surgical pathology showed adenosquamous carcinoma, and immunohistochemistry suggested intestinal differentiation. Forty-six days after surgery, the patient subsequently died of tumor consumption and organ insufficiency due to cerebral infarction, recurrence, and multiple metastases. This paper describes the clinical, radiological, and histopathologic features as well as the prognosis of the rare disease adenosquamous carcinoma of Skene's gland. In addition, we briefly review the published literature.
Posttransplant Lymphoproliferative Disorder in a Patient with Worsening Ascites after Liver Transplantation
Authors: Harsh D Patel, Moises I Nevah Rubin
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Posttransplant lymphoproliferative disorder (PTLD) is a spectrum of diseases that involves abnormal lymphoid and/or plasmacytic proliferation in patients with solid organ or hematopoietic cell transplantation. It is a condition with a low incidence of 3.5-4.3% in liver transplant (LT) recipients. This case involves a 63-year-old male with history of LT for chronic HCV induced cirrhosis who presented with abdominal distension related to worsening ascites. Cytological ascitic fluid analysis revealed EBV (+) malignant cells without a malignant focal point on imaging. Diagnosis of monomorphic PTLD with primary effusion lymphoma-like morphology and immunophenotype was established. This case highlights the complexity in diagnosis, different diagnostic modalities, and rare clinical presentations of PTLD.
Male Child with Van Wyk-Grumbach's Syndrome and Other Complications of Long-Standing Primary Hypothyroidism: A Case Report
Authors: Ahmed Omran, Jing Peng, Biswas Shrestha, Muhammad Usman Ashhab, Fei Yin
Journal: Case Rep Pediatr (2012)

Primary hypothyroidism in the juvenile population generally leads to retardation of linear growth and delay or even arrest of puberty. However, in rare conditions, children with long-standing hypothyroidism present with signs of Van Wyk-Grumbach's syndrome (VWGS) which include juvenile hypothyroidism, delayed bone age, and pseudoprecocious puberty. We report a rare case of prepubertal male child from Asian origin, presented with long-standing untreated hypothyroidism complicated with VWGS and other complications including obesity, short stature, hepatomegaly, asymptomatic mild pericardial effusion, and pituitary hyperplasia.
Atraumatic forearm swelling in a patient with poorly controlled asthma
Authors: Matthew Leon, Robert Liotta, Shambhu Aryal, Peter Vangeertruyden, Scott Tintle, Mary Klassen-Fischer, Aaron Holley, William Kelly, Jacob Collen
Journal: Respir Med Case Rep (2021)
Keywords: asthma, bal, bronchoalveolar lavage, bronchiectasis, ct, computed tomography, darier-roussy disease, ed, emergency department, extrapulmonary, granulomatous disease, sarcoidosis, subcutaneous, tbbx, transbronchial biopsy
MeSH terms: Case Reports

We present a case of sarcoidosis presenting as unilateral forearm swelling. A 65-year-old male with a long history of asthma presented with unexplained left forearm and hand swelling. Over many years, chest imaging had been devoid of adenopathy or parenchymal findings suspicious for sarcoid, until after the extremity findings emerged. The patient was diagnosed based on subcutaneous, dermal and mediastinal lymph node histopathology. Sarcoid presenting with isolated extremity findings prior to more typical pulmonary manifestations is rare even for cutaneous or soft tissue sarcoid, highlighting the need to maintain a high index of suspicion for sarcoidosis.
Successful Therapeutic ERCP in a 99-Day-Old Child With Common Bile Duct Stones: A Case Report and Discussions on the Particularities of the ERCP in Children
Authors: Qifeng Lou, Jianliang Sun, Xiaofeng Zhang, Hongzhang Shen
Journal: Front Pediatr (2020)
Keywords: ercp (endoscopic retrograde cholangiopancreatography), anesthesiology, child, common bile duct (cbd) obstruction, experience, particularities
MeSH terms: Case Reports

Backgroud: At present, therapeutic endoscopic retrograde cholangiopancreatography (ERCP) has gradually been used in the diagnosis and treatment of biliary and pancreatic diseases in children, but reports on and the application of ERCP in children, especially in infants, are still highly limited. Case Presentation: This case report describes a 99-day-old infant with choledocholithiasis who successfully underwent ERCP to relieve an obstruction. The infant developed obstructive jaundice during chemotherapy for a malignant tumor, and a routine blood examination showed signs of infection. Liver damage also occurred. B-ultrasound suggested stones in the lower segment of the common bile duct (CBD). After sufficient communication and preparation, biliary drainage was successfully carried out in the infant using adult duodenoscope (JF240) and related instruments with cooperation from the Department of Anesthesiology. Conclusions: This paper preliminarily introduces our experience with adult duodenoscope in children, providing a good example for hospitals without a special duodenoscope for children to carry out pediatric ERCP. Clinicians should pay close attention to the need of careful use of ERCP in infants.
Hickam's Dictum Incarnate: A Case of Simultaneous Left-Sided Urolithiasis and Ruptured Iliac Artery Aneurysm
Authors: Melissa Bouwsema, Colin Bell
Journal: POCUS J (2022)
Keywords: abdominal aortic aneurysm, iliac artery aneurysm, nephrolithiasis, point of care ultrasound, ultrasound, urolithiasis
MeSH terms: Case Reports

A 51-year-old man with a history of nephrolithiasis presented to the Emergency Department after a sudden onset of left-sided groin pain and syncope. At presentation, he described his pain as similar to prior renal colic episodes. At his initial assessment, point of care ultrasound (POCUS) was used, which revealed findings consistent with obstructive renal stones, as well as a substantially enlarged left iliac artery. Computed tomography (CT) imaging confirmed the comorbid diagnoses of left-sided urolithiasis and a ruptured isolated left iliac artery aneurysm. POCUS facilitated expedited definitive imaging and operative management. This case highlights the importance of performing related POCUS studies in reducing anchoring and premature closure bias.
Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine
Authors: Hao Zhang, Yingping Deng, Ke Ma, Chengshu Sun, Jing Tang
Journal: Front Med (Lausanne) (2022)
Keywords: congenital corneal dystrophy, corneal deposit, gene mutation, human papillomavirus vaccine, small-incision lenticule extraction
MeSH terms: Case Reports

Background:
Deposits located between the Descemet memberane and the corneal endothelial layer in both eyes has not yet been reported after SMILE.
Case report:
Grayish white fine deposits was found between the Descemet memberane and the corneal endothelial layer in both eyes of the patient's cornea, and no other abnormalities were observed in the anterior and posterior segments of patient's eyes with ophthalmic examination instrument. However, the visual acuity of patient remained unchanged. Significantly, the patient had a sister who had undergone the same procedure a year earlier without any complications. After careful questioning, we learned that the patient received the 9-valent human papillomavirus (HPV) vaccine on the third post-operative day without any other special experiences. We performed immunological examination and genetic testing on the patient. The results of immunological examination of patient showed no obvious abnormality, which was consistent with the routine trend after vaccination. In particular, a homozygous variation of the ARSG gene was found in the patient and her sister.
Conclusion:
There are two possible causes of corneal changes in patients. The first is IGA elevation caused by vaccination, deposited in the cornea. Second, the ARSG gene mutation of the patient leads to a potential congenital corneal dystrophy, and clinical manifestations occur under the stimulation of the vaccine.
Case Report: A Case Study Documenting the Activity of Atezolizumab in a PD-L1-Negative Triple-Negative Breast Cancer
Authors: Fara Brasó-Maristany, Miriam Sansó, Nuria Chic, Débora Martínez, Blanca González-Farré, Esther Sanfeliu, Lucio Ghiglione, Esther Carcelero, Javier Garcia-Corbacho, Marcelo Sánchez, Dolors Soy, Pedro Jares, Vicente Peg, Cristina Saura, Montserrat Muñoz, Aleix Prat, Ana Vivancos
Journal: Front Oncol (2021)
Keywords: biomarkers, breast cancer, case report, ctdna, immunotherapy
MeSH terms: Case Reports

The immune checkpoint inhibitor atezolizumab is approved for PD-L1-positive triple-negative breast cancer (TNBC). However, no activity of atezolizumab in PD-L1-negative TNBC has been reported to date. Here, we present the case study of a woman with TNBC with low tumor infiltrating lymphocytes and PD-L1-negative disease, which achieved a significant response to atezolizumab monotherapy and durable response after the combination of atezolizumab and nab-paclitaxel. The comprehensive genomic analysis that we performed in her tumor and plasma samples revealed high tumor mutational burden (TMB), presence of the APOBEC genetic signatures, high expression of the tumor inflammation signature, and a HER2-enriched subtype by the PAM50 assay. Some of these biomarkers have been shown to independently predict response to immunotherapy in other tumors and may explain the durable response in our patient. Our work warrants further translational studies to identify biomarkers of response to immune checkpoint inhibitors in TNBC beyond PD-L1 expression and to better select patients that will benefit from immunotherapy.
Image of the Month: Decision-Making in Surgery for Late Onset Hirschsprung Disease
Authors: Anisha Apte, Elise McKenna, Marc A Levitt
Journal: European J Pediatr Surg Rep (2020)
Keywords: hirschsprung disease, chronic constipation, chronic distension, colonic dysmotility, pull-through
MeSH terms: Case Reports

We present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.
Case Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti
Authors: Licong Liang, Yiliu Yang, Shaochong Bu, Fang Lu
Journal: Front Med (Lausanne) (2021)
Keywords: vegf, case report, conbercept, cotton-wool spots, incontinentia pigmenti
MeSH terms: Case Reports

Introduction: Incontinentia pigmenti (IP) is a rare X-linked neuroectodermal dysplasia affecting multiple organs. One of its most significant ophthalmic manifestations is retinal neovascularization due to retinal ischemia, which has been traditionally treated with laser photocoagulation or cryotherapy. The application of anti-vascular endothelial growth factor (VEGF) has been reported for the treatment of retinopathy of IP with beneficial results. However, clinicians should be aware of the possible ocular and systemic side effects of the intravitreal injection of anti-VEGF agents. Case Report: A 4-month-old female infant with IP was treated with intravitreal injection of conbercept in both eyes. However, cotton-wool spots were noticed in the left eye 1 week after the injection. Laser photocoagulation was performed as an adjunct treatment. The cotton-wool spots were absorbed 1 month after the first intravitreal injection and have eventually disappeared. Discussion: The cotton-wool spots, after intravitreal injection of conbercept for the treatment of IP, indicated severe retinal ischemia resulting from the neutralization of excessive VEGF, which was shown on fundus photograph and fluorescent angiography. Anti-VEGF agents could cause retinal arteriolar vasoconstriction and artery occlusion on rare occasions. The administration of anti-VEGF agents in pediatric cases with severe neovascularization and retinal ischemia should be carefully considered.
Extraneural Metastasis of Primary Glioma Occurring in a Setting of Occupational Ionizing Radiation Exposure
Authors: Nitya Prabhakaran, Douglas C Miller, N Scott Litofsky, Shellaine R Frazier
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Malignant gliomas account for 60% of all primary brain tumors in adults. Glioblastoma Multiforme (GBM) is the most common primary glial tumor with a dismal prognosis and a median survival of approximately 14 months. Extra-neural metastases from primary brain tumors are unusual with an incidence rate of less than 2%. This has been attributed to factors such as short survival, lack of true lymphatics in the CNS, and physical barriers provided by the dura, extracellular matrix, and basement membrane. Although most GBMs occur sporadically, there is a known association with therapeutic radiation exposure and with work in nuclear disaster cleanup. To our knowledge, no case of GBM with metastasis occurring in a patient with occupational radiation exposure currently exists in the literature. In this article, we present a case of GBM with lung metastasis occurring in a 51-year-old Caucasian male, whose history is significant for occupational exposure to ionizing radiation, and review the literature on GBM risk factors and potential mechanisms of metastasis.
Unusual allergen in a butcher with respiratory symptoms
Authors: Ingrid Sander, Claus Keller, Christina Czibor, Ursula Meurer, Rolf Merget, Monika Raulf
Journal: Allergol Select (2020)
Keywords: streptomyces mobaraensis, allergy, butcher, respiratory symptoms, transglutaminase
MeSH terms: Case Reports

A 37-year-old butcher developed respiratory symptoms during sausage and chicken production in a large company. In addition to various spices, the enzyme transglutaminase was a possible cause. The lung function test showed mild partial reversible airway obstruction and severe bronchial hyperresponsiveness. The IgE test showed sensitizations to various spice mixtures, coriander (0.74 kU/L), and to the ImmunoCAP-bound transglutaminase preparation from the workplace (7.12 kU/L). The skin prick tests with this transglutaminase were also positive. In the immunoblot of this preparation, a 40-kD protein reacted with the patient's IgE and was identified as transglutaminase from Streptomyces mobaraensis by inhibition experiments. This is the first case of a butcher with an allergy to transglutaminase. After moving to a small enterprise without enzyme use, his symptoms improved. Sensitization and the course of the symptoms indicate a dominant role of transglutaminase in the patient's allergic asthma.
Case Report: A case of synchronous right upper lobe adenocarcinoma and left lower lobe squamous cell carcinoma treated with immune checkpoint inhibitor plus chemotherapy
Authors: Yujiao Liu, Han Yu, Youhong Dong, Dongdong Zhang
Journal: Front Oncol (2023)
Keywords: adenocarcinoma, intrapulmonary metastases, multiple primary lung cancers, squamous cell carcinoma, synchronous mplc
MeSH terms: Case Reports

Globally, lung cancer is the leading cause of cancer-related mortality. Multiple primary lung cancers (MPLC) account for a very small portion of all primary lung cancer cases. Importantly, a quick and precise differentiation between MPLC and intrapulmonary metastases is directly related to patient prognoses as treatment strategies vary according to pathological type. Synchronous MPLC are most commonly seen in the same lung. Here, we report a rare case of a patient with synchronous MPLC of both lungs. A 67-year-old man, with a 1-month cough and expectoration history, was admitted in our hospital. Computed tomography (CT) chest scan revealed a lower lobe nodule in the left lung and an upper lobe nodule in the right lung. He underwent successive fiberoptic bronchoscopy and CT-guided percutaneous pulmonary aspiration biopsy of both lungs. The pathological diagnosis was squamous cell carcinoma of the left lung and adenocarcinoma of the right lung.