OpenMed/multicare-articles huggingface dataset:
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils
Authors: Nina K Serwas, Jakob Huemer, Régis Dieckmann, Ester Mejstrikova, Wojciech Garncarz, Jiri Litzman, Birgit Hoeger, Ondrej Zapletal, Ales Janda, Keiryn L Bennett, Renate Kain, Dontscho Kerjaschky, Kaan Boztug
Journal: Front Immunol (2018)
Keywords: c/ebpε, granule organization, neutrophil granulocytes, primary immunodeficiency, specific granule deficiency
MeSH terms: CCAAT-Enhancer-Binding Proteins / genetics, Lactoferrin / deficiency, Leukocyte Disorders / etiology, Leukocyte Disorders / metabolism, Mutation, Neutrophils / metabolism, Proteome, Case Reports, Research Support, Non-U.S. Gov't, Adult, Biomarkers, Case-Control Studies, Child, Child, Preschool, Cytoplasmic Granules / immunology, Cytoplasmic Granules / metabolism, Epitopes / immunology, Glycoproteins / immunology, Glycoproteins / metabolism, Humans, Lactoferrin / metabolism, Membrane Glycoproteins / immunology, Membrane Glycoproteins / metabolism, Middle Aged, Neutrophils / immunology, Proteomics / methods, Biomarkers, CCAAT-Enhancer-Binding Proteins, Epitopes, Glycoproteins, Membrane Glycoproteins, Proteome, CEBPE protein, human, Lactoferrin, Specific Granule Deficiency

Specific granule deficiency (SGD) is a rare disorder characterized by abnormal neutrophils evidenced by reduced granules, absence of granule proteins, and atypical bilobed nuclei. Mutations in CCAAT/enhancer-binding protein-ε (CEBPE) are one molecular etiology of the disease. Although C/EBPε has been studied extensively, the impact of CEBPE mutations on neutrophil biology remains elusive. Here, we identified two SGD patients bearing a previously described heterozygous mutation (p.Val218Ala) in CEBPE. We took this rare opportunity to characterize SGD neutrophils in terms of granule distribution and protein content. Granules of patient neutrophils were clustered and polarized, suggesting that not only absence of specific granules but also defects affecting other granules contribute to the phenotype. Our analysis showed that remaining granules displayed mixed protein content and lacked several glycoepitopes. To further elucidate the impact of mutant CEBPE, we performed detailed proteomic analysis of SGD neutrophils. Beside an absence of several granule proteins in patient cells, we observed increased expression of members of the linker of nucleoskeleton and cytoskeleton complex (nesprin-2, vimentin, and lamin-B2), which control nuclear shape. This suggests that absence of these proteins in healthy individuals might be responsible for segmented shapes of neutrophilic nuclei. We further show that the heterozygous mutation p.Val218Ala in CEBPE causes SGD through prevention of nuclear localization of the protein product. In conclusion, we uncover that absence of nuclear C/EBPε impacts on spatiotemporal expression and subsequent distribution of several granule proteins and further on expression of proteins controlling nuclear shape.
Gastrointestinal Hemorrhage in Patient with Granulomatosis with Polyangitis
Authors: Nikhil Madan, Vipul Patel
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Granulomatosis with polyangitis (GPA) is characterized by a necrotizing granulomatous vasculitis of small arteries and veins. It most commonly affects the upper and lower respiratory tract and kidneys. However, other organs including the gastrointestinal tract can be affected. Gastrointestinal manifestations of GPA are rare and can include ischemia, bowel infarction, and perforation. Hemorrhage is an extremely rare presentation of GPA. We present a case of a woman with GPA and pulmonary renal syndrome on treatment who presents with severe gastrointestinal hemorrhage.
Six-Year Complete Remission of Type-1 Diabetes Mellitus in an Adult Treated With Sitagliptin
Authors: Vânia Benido Silva, Maria Teresa Pereira
Journal: Cureus (2023)
Keywords: dipeptidyl peptidase 4 (dpp-4), honeymoon phase, low-carb, remission, type 1 diabetes
MeSH terms: Case Reports

A "honeymoon" phase is a transient period of type 1 diabetes (T1D) remission, characterized by a significant reduction in insulin requirements and good glycemic control due to a temporary restoration of pancreatic β-cell function. This phenomenon occurs in about 60% of adults with this disease, is usually partial, and lasts for up to 1 year. We present a case of a 6-year complete remission of T1D in a 33-year-old man, the longest remission ever described in the literature to our knowledge. He was referred for presenting a 6-month history of polydipsia, polyuria, and weight loss of 5 kg. Laboratory studies confirmed the diagnosis of T1D (fasting blood glucose of 270 mg/dL; HbA1c of 10.6%, and positive antiglutamic acid decarboxylase), and the patient started intensive insulin therapy. After 3 months, a complete remission of the disease was assumed, he suspended insulin administration and since then, he has been under treatment with sitagliptin 100 mg daily, a low-carbohydrate diet, and regular aerobic physical activity. This work aims to highlight the potential role of these factors in delaying disease progression and preserving pancreatic β-cells when introduced at the time of presentation. More robust, prospective, and randomized studies will be needed to confirm its protective effect on the natural course of the disease and support its indication in adults with newly diagnosed T1D.
Trastuzumab Emtansine for the Treatment of HER-2 Positive Carcinoma Ex-pleomorphic Adenoma Metastatic to the Brain: A Case Report
Authors: Ihab Hassanieh, Lara Hilal, Karine A Al Feghali, Ibrahim Khalifeh, Bassem Youssef
Journal: Front Oncol (2018)
Keywords: brain metastases, carcinoma ex-pleomorphic adenoma, radiotherapy, trastuzumab emtansine, treatment
MeSH terms: Case Reports

Background: Carcinoma Ex-pleomorphic adenoma is a malignant transformation of the common benign neoplasm of the salivary glands, "pleomorphic adenoma." Only two cases were ever reported with brain metastases, with absence of good evidence guiding management of such cases. Case Presentation: A 61-year-old woman presenting with facial paralysis was found to have carcinoma ex-pleomorphic adenoma of the parotid gland. Twenty months after local treatment, she developed brain metastases, treated with whole brain radiation therapy. The patient then had progressive intracranial disease after the end of radiation therapy in addition to the appearance of liver metastases. Pathology showed overexpression of HER2, so she was treated with Trastuzumab Emtansine (TDM1). Follow-up imaging revealed significant decrease in the number and size of the metastatic brain lesions in keeping with a good response to TDM1 treatment. Conclusion: Prognosis of metastatic carcinoma ex-pleomorphic adenoma is very poor, and there is no clear management for such cases. We present a case of carcinoma ex-pleomorphic adenoma with brain and liver metastases with a very good response to TDM1 treatment.
Case Report: Response to Almonertinib in a Patient With Metastatic NSCLC Resistant to Osimertinib due to Acquired EGFR L718Q Mutation
Authors: Gang Shen, Lei Shi, Xin Tian, Depei Huang, Hao Chen, Chan Gao, Xudong Shen, Hushan Zhang
Journal: Front Pharmacol (2021)
Keywords: egfr, l718q, nsclc-lung adenocarcinoma-egfr-alk-braf-kras-ret-met-pd-l1-ros1, tki-tyrosine kinase inhibitor, almonertinib
MeSH terms: Case Reports

Osimertinib shows strong clinical activity in first- and second-line treatment of nonsmall-cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations, especially EGFR T790M. However, when patients develop resistance, there is currently no definite postosimertinib treatment option. Herein, we report a patient with metastatic NSCLC who benefited from almonertinib after developing resistance to osimertinib.
Spectral domain optical coherence tomography in diffuse unilateral subacute neuroretinitis
Authors: Carlos Alexandre de A Garcia Filho, Ana Claudia Medeiros de A G Soares, Fernando Marcondes Penha, Carlos Alexandre de Amorim Garcia
Journal: J Ophthalmol (2011)
MeSH terms: Case Reports

Purpose. To describe the SD-OCT findings in patients with diffuse unilateral subacute neuroretinitis (DUSN) and evaluate CRT and RNFL thickness. Methods. Patients with clinical diagnosis of DUSN who were submitted to SD-OCT were included in the study. Complete ophthalmologic examination and SD-OCT were performed. Cirrus scan strategy protocols used were 200 × 200 macular cube, optic nerve head cube, and HD-5 line raster. Results. Eight patients with DUSN were included. Mean RNFL thickness was 80.25 μm and 104.75 μm for affected and normal eyes, respectively. Late stage had mean RNFL thickness of 74.83 μm compared to 96.5 μm in early stage. Mean CMT was 205.5 μm for affected eyes and 255.13 μm for normal fellow eyes. Conclusion. RNFL and CMT were thinner in DUSN eyes compared to normal eyes. Late-stage disease had more pronounced thinning compared to early-stage patients. This thinning in RNFL and CMT may reflect the low visual acuity in patients with DUSN.
Successful Treatment of Massive Pulmonary Thromboembolism with Reteplase: Case Series
Authors: Hassan Ghobadi, Zahra Amirajam, Afshin Habibzadeh
Journal: Tanaffos (2018)
Keywords: bleeding, pulmonary thromboembolism, reteplase

Massive pulmonary thromboembolism (PTE) has an increased risk of mortality. Thrombolytic therapy is the accepted treatment. Reteplase, a variant of tissue plasminogen activator, has been used in acute myocardial infarction with acceptable safety and efficacy, but studies in massive PTE are rare. In this study we report five cases of successful treatment of massive PTE with reteplase.
Severe myocardial depression in a patient with aluminium phosphide poisoning: a clinical, electrocardiographical and histopathological correlation
Authors: Viral Shah, Seema Baxi, Tanmay Vyas
Journal: Indian J Crit Care Med (2009)
MeSH terms: Case Reports

Aluminium phosphide poisoning is very common in India. It is one of the most fatal poisons. The clinical spectrum of poisoning varies depending upon the dosage and duration of consumption. The main effect of the poison is due to the release of phosphine which inhibits cytochrome oxidase and thereby hampers cellular oxygen utilization. Almost any organ can be affected by aluminium phosphide poisoning. We report a case where the heart was the predominantly affected organ. We describe the clinical symptoms and signs and their correlation with electrocardiographic and histopathological examinations.
Suprascapular Nerve Pulsed Radiofrequency for Chronic Shoulder Pain in a Pediatric Patient
Authors: Federico Cristiani, Maria A Hernandez
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Pulsed radiofrequency of the suprascapular nerve has shown efficacy in adults with chronic shoulder pain, but its use in pediatrics is relatively new. We present a case of a successful use of pulsed radiofrequency to treat refractory chronic shoulder pain in an adolescent patient. Case Report. We present a 53 kg, 14-year-old female, with a medical history of septic arthritis of the left shoulder within the first month of life leading to persisting pain during childhood. She presented with a complaint of progressive pain starting at age 12, refractory to analgesics including opioids and intra-articular injection of local anesthetic and steroids. After pulsed radiofrequency of the suprascapular nerve, significant pain relief and improvement of the range of motion was obtained. These results were maintained at the 1-, 3-, and 6-month follow-up visits with the pain being reported as mild and manageable with nonsteroidal anti-inflammatory drugs. Conclusion. There is limited data today of the use of pulsed radiofrequency for pediatric chronic pain. We successfully used this intervention in a 14-year-old patient with chronic shoulder pain extrapolating from adult experience and as a last resort after all other treatments had failed.
Atrial Fibrillation as a Rare Complication of the Use of Nifedipine as a Tocolytic Agent: A Case Report and Review of the Literature
Authors: Nikolina P Docheva, Emily D Slutsky, Roger Sandelin, James W Van Hook
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Calcium channel blockers are commonly used tocolytic agents on Labor and Delivery units worldwide as part of the management of preterm labor. Despite their overall reassuring safety profile, rare cardiovascular complications have been reported. In this report, we describe the case of threatened preterm labor managed with nifedipine with subsequent development of atrial fibrillation. This type of cardiac arrhythmia may have considerable consequences for both the mother and the fetus. The aim of this case report and comprehensive review of the literature is to raise awareness.
IgG4-Related Disease Presenting as Isolated Scleritis
Authors: Eran Berkowitz, Ella Arnon, Alona Yaakobi, Yuval Cohen, Beatrice Tiosano
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

A rare case of IgG4-related disease (IgG4-RD) manifesting as nodular scleritis is presented in a 20-year-old female. Patient complained of left eye pain and redness for one week. Ocular examination together with ancillary testing led to the diagnosis of nodular scleritis. Since the patient did not show apparent improvement after one week of systemic steroidal treatment, she underwent a biopsy of the affected area revealing histopathological characteristics of IgG4-RD. Long-term treatment with corticosteroids and a steroid-sparing agent (methotrexate) led to significant improvement in signs and symptoms. This case highlights the significance of IgG4-RD in the differential diagnosis of scleritis and raises the question as to whether various organs affected by IgG4-RD may have different underlying pathophysiological mechanisms in which pathogenic T cells play a role.