OpenMed/multicare-articles huggingface dataset:
Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules
Authors: Yumi Okubo, Ritsuko Masuyama, Akira Iwanaga, Yuta Koike, Yutaka Kuwatsuka, Tomoo Ogi, Yosuke Yamamoto, Yuichiro Endo, Hiroshi Tamura, Atsushi Utani
Journal: PLoS One (2017)
MeSH terms: Calcinosis / genetics, Carbon-Carbon Ligases / genetics, Dermis / pathology, Fibroblasts / pathology, Osteogenesis / genetics, Up-Regulation / genetics, Case Reports, Alkaline Phosphatase / metabolism, Biomarkers / metabolism, Bone Morphogenetic Proteins / metabolism, Calcinosis / pathology, Calcium-Binding Proteins / metabolism, Cell Transdifferentiation, Extracellular Matrix Proteins / metabolism, Gene Deletion, Homozygote, Humans, Intracellular Space / metabolism, Male, Middle Aged, Protein Transport, Pseudoxanthoma Elasticum / enzymology, Pseudoxanthoma Elasticum / pathology, Signal Transduction, Syndrome, Biomarkers, Bone Morphogenetic Proteins, Calcium-Binding Proteins, Extracellular Matrix Proteins, matrix Gla protein, Alkaline Phosphatase, Carbon-Carbon Ligases, glutamyl carboxylase

Gamma-glutamyl carboxylase (GGCX) gene mutation causes GGCX syndrome (OMIM: 137167), which is characterized by pseudoxanthoma elasticum (PXE)-like symptoms and coagulation impairment. Here, we present a 55-year-old male with a novel homozygous deletion mutation, c.2,221delT, p.S741LfsX100, in the GGCX gene. Histopathological examination revealed calcium deposits in elastic fibers and vessel walls, and collagen accumulation in the mid-dermis. Studies of dermal fibroblasts from the patient (GGCX dermal fibroblasts) demonstrated that the mutated GGCX protein was larger, but its expression level and intracellular distribution were indistinguishable from those of the wild-type GGCX protein. Immunostaining and an enzyme-linked immunosorbent assay showed an increase in undercarboxylated matrix gamma-carboxyglutamic acid protein (ucMGP), a representative substrate of GGCX and a potent calcification inhibitor, indicating that mutated GGCX was enzymatically inactive. Under osteogenic conditions, calcium deposition was exclusively observed in GGCX dermal fibroblasts. Furthermore, GGCX dermal fibroblast cultures contained 23- and 7.7-fold more alkaline phosphatase (ALP)-positive cells than normal dermal fibroblast cultures (n = 3), without and with osteogenic induction, respectively. Expression and activity of ALP were higher in GGCX dermal fibroblasts than in normal dermal fibroblasts upon osteogenic induction. mRNA levels of other osteogenic markers were also higher in GGCX dermal fibroblasts than in normal dermal fibroblasts, which including bone morphogenetic protein 6, runt-related transcription factor 2, and periostin (POSTN) without osteogenic induction; and osterix, collagen type I alpha 2, and POSTN with osteogenic induction. Together, these data indicate that GGCX dermal fibroblasts trans-differentiate into the osteogenic lineage. This study proposes another mechanism underlying aberrant calcification in patients with GGCX syndrome.
Acute Myocardial Infarction Followed by Cerebral Hemorrhagic Infarction in Polycythemia Vera: Case Report and Literature Review
Authors: XiangSen Shao, ZhuoTing Liu, ChunChang Qin, Fei Xiao
Journal: Front Cardiovasc Med (2021)
Keywords: acute myocardial infarction, cerebral infarction, diagnosis, polycythemia vera, thrombus
MeSH terms: Case Reports

A 60-year-old man presented to our emergency room with severe chest pain. Based on the electrocardiogram and elevated serum troponin T levels, acute coronary syndrome was suspected. Coronary angiography revealed total occlusion of the middle of the left anterior descending coronary artery. However, blood cell count abnormalities were not of concern. Twelve days later, the patient developed hemorrhagic infarction in the right parieto-occipital lobe. Acute coronary syndrome and cerebral hemorrhagic infarction were primarily caused by thrombus formation due to polycythemia vera (PV), based on the presence of increased blood consistency on admission. PV was diagnosed after bone marrow biopsy and genetic testing. The patient was treated with descending cell and antiplatelet therapy. Our case highlights the importance of the urgent identification of PV. When acute myocardial infarction occurs in patients with no significant risk factors for cardiovascular disease, blood routine abnormalities should be paid close attention to. If PV was diagnosed as early as possible, thrombotic and hemorrhagic complications could be prevented in the early stages.
Reversible Wernicke encephalopathy caused by hyperemesis gravidarum in the second trimester of pregnancy: a case report
Authors: Nadia Ben Jdidia, Sawssan Ben Halima, Hana Hakim, Sahbi Kebaili, Ines Koubaa, Hedi Chelly, Kais Chaabane
Journal: Pan Afr Med J (2021)
Keywords: wernicke encephalopathy, case report, gravidarum, hyperemesis
MeSH terms: Hyperemesis Gravidarum / complications, Hyperemesis Gravidarum / diagnosis, Thiamine Deficiency / complications, Thiamine Deficiency / diagnosis, Wernicke Encephalopathy / diagnosis, Wernicke Encephalopathy / drug therapy, Wernicke Encephalopathy / etiology, Case Reports, Adult, Female, Humans, Magnetic Resonance Imaging / methods, Pregnancy, Pregnancy Trimester, Second, Thiamine, Thiamine

Wernicke encephalopathy is a potentially life-threatening neurologic syndrome caused by acute thiamine (vitamin B1) deficiency. It is usually associated with excessive alcohol consumption. Less frequently, this syndrome can be caused by persistent vomiting. This is a case report of a 33-year-old woman diagnosed with Wernicke encephalopathy (WE) during the second trimester of pregnancy. The presence of neurological and ophthalmological symptoms in the context of hyperemesis gravidarum led us to evoke the diagnosis of WE, and it was confirmed when specific lesions were found in the brain magnetic resonance imaging (MRI). Luckily for our patient, WE was diagnosed promptly and the signs were reversible after thiamine supplementation. In conclusion, any first line care taker or midwife must know the symptoms of Wernicke encephalopathy because prompt diagnosis and treatment can lead to recovery.
Bing-Neel Syndrome Case Report: A Previously Undocumented IgG Variant with MRI, PET/CT, and PET/MRI Imaging
Authors: Daniel Halperin, Simon Hallam, Athar Haroon, Tom Butler, Samir Agrawal
Journal: Case Rep Hematol (2016)

Waldenstrom's macroglobulinaemia is the most commonly reported subtype of lymphoplasmacytic lymphoma (LPL); it is characterised by IgM secretion. Neurological complications are common usually as a result of hyperviscosity. In rare cases, cells can infiltrate the central nervous system; this is known as Bing-Neel syndrome. We report the case of a 57-year-old male with lymphoplasmacytic lymphoma of the IgG-subtype with neurological symptoms and the consequent finding of lymphoplasmacytoid cells in his cerebrospinal fluid as well as deposits on MRI and PET-CT imaging. This is the first report of Bing-Neel syndrome in IgG-subtype LPL. We discuss the biological and radiological markers of his disease, including PET imaging, which has been minimal in this area to date.
ANCA-Negative Vasculitis in Eosinophilic Granulomatosis with Polyangiitis Complicated with Membranous Nephropathy: A Case Report and Brief Literature Review
Authors: Eri Kasama, Jun Ino, Fumika Iemura, Saeko Kumon, Mio Kodama, Keitaro Sato, Hitoshi Eizumi, Kosaku Nitta, Junichi Hoshino
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

Renal involvement in eosinophilic granulomatosis with polyangiitis (EGPA) typically occurs in anti-neutrophil cytoplasmic autoantibody (ANCA)-positive cases presenting with rapidly progressive renal insufficiency and urinary abnormalities induced by primarily necrotizing crescentic glomerulonephritis (NCGN). Recently, ANCA-negative EGPA has also been reported to manifest with renal involvement, such as NCGN or non-NCGN, including membranous nephropathy (MN). Herein, we report a 70-year-old female who presented with purpura on the lower legs, upper limb numbness, renal dysfunction (eGFR, 20.5 ml/min/1.73 m2), and eosinophilia (eosinophils, 37,570/μl). MPO-and PR3-ANCA were negative, and urinalysis revealed urine protein (0.63 g/day) but without red blood cells in the urine sediment. Thus, she was diagnosed with ANCA-negative EGPA with rapidly progressive renal dysfunction. A renal biopsy revealed vasculitis in the interlobular arteries without NCGN, with the vasculitis being complicated by MN. Micrograph findings on fluorescence immunostaining contained both primary and secondary characteristics of MN (dominance of IgG subclass 4 more than subclass 1 vs. negativity of PLA2R and THSD7A). After treatment with prednisolone, her eosinophil counts normalized, and renal dysfunction improved. Furthermore, urine protein did not increase above 1.0 g/day during the clinical course. This is a rare case of ANCA-negative EGPA presenting with acute renal dysfunction without NCGN and subclinical MN with unknown etiology. It is important to recognize that EGPA pathology varies widely throughout the disease course, and the clinical course of subclinical MN should be carefully assessed in further follow-ups.
Successfully treated congenital cystic adenomatoid malformation by open fetal surgery: A care-compliant case report of a 5-year follow-up and review of the literature
Authors: Dazhi Fan, Shuzhen Wu, Rui Wang, Yi Huang, Yao Fu, Wen Ai, Meng Zeng, Xiaoling Guo, Zhengping Liu
Journal: Medicine (Baltimore) (2017)
MeSH terms: Cystic Adenomatoid Malformation of Lung, Congenital / surgery, Fetal Therapies / methods, Case Reports, Review, China, Cystic Adenomatoid Malformation of Lung, Congenital / diagnostic imaging, Female, Follow-Up Studies, Humans, Treatment Outcome, Ultrasonography, Prenatal, Young Adult

Background:
Congenital cystic adenomatoid malformation (CCAM) is a rare hamartomatous cystic lesion. Open fetal surgery currently provides a potential therapeutic option for management of a fetus with CCAM diagnosis.
Case summary:
A 22-year-old G2P0 woman presented at (Equation is included in full-text article.)weeks' gestation for evaluation of a fetus with a left lung lesion and diagnosed as CCAM at (Equation is included in full-text article.)weeks' gestation. Open fetal surgery was performed to resection the lesion at (Equation is included in full-text article.)weeks' gestation under deep maternal general anesthesia. The mother presented at (Equation is included in full-text article.)weeks after open fetal surgery with preterm premature rupture of membranes (PPROM) and underwent cesarean delivery at (Equation is included in full-text article.)weeks' gestation. A vigorous woman infant of 1955 g, with good Apgar score, was delivered. At 1 month, 4 years, and present, 5 years after birth, she has continued to do well without any obvious deficit and both respiration and circulation were well maintained.
Conclusion:
We present one case of CCAM which was cured by open fetal surgery and continued to do well at follow-up of 5 years. The success of treatment provided preliminary experience for further carrying out such interventions in China.
Imaging Features of Primary T Cell Lymphoma in Bone: A Case Report and Review of Literature
Authors: Suli Yu, Jianqiang Xu
Journal: Front Oncol (2021)
Keywords: case report, imaging feature, peripheral t cell lymphoma, primary bone lymphoma, treatment strategy
MeSH terms: Case Reports

Primary bone lymphoma (PBL) is a less frequent type of extranodal lymphoma, which is defined as a single skeletal tumor or multiple bone lesions without visceral or lymph node involvement. Most published cases have reported diffused large B cell lymphoma (DLBCL) of PBL, and the prognosis is good after conventional treatment. Primary T-cell lymphoma is extremely rare in the literature. The clinical symptoms, imaging findings, diagnosis, treatment and prognosis of primary T-cell lymphoma of bone are still unclear. The case details a young male patient who was treated for bone tuberculosis and was diagnosed with T-cell lymphoma during an open surgical biopsy. Further imaging evidence showed the lymphoma was localized within the femur. The patient responded poorly to combined chemo- and radiotherapy. He was confirmed with local lung metastases 11 months later and died at the 17th month of onset. I would like to provide PBL entities with some rare information about primary bone peripheral T-cell lymphoma and discuss the best strategy for the treatment of rare PBL subtypes.
A Novel Surgical Technique for Fixation of Recurrent Acromioclavicular Dislocations: AC Dog Bone Technique in Combination with Autogenous Semitendinosus Tendon Graft
Authors: Patrick Holweg, Wolfgang Pichler, Gerald Gruber, Ellen Tackner, Franz Josef Seibert, Patrick Sadoghi, Gloria Hohenberger
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Various surgical techniques have been described for the fixation of acromioclavicular (AC) dislocations. However, recurrent dislocation is one of the main complications associated with the majority of these techniques. We report a case of postoperative AC joint redislocation. In order to overcome recurrent dislocation after revision surgery, a reconstruction of the conoid and trapezoid ligament with the use of a free tendon graft in combination with a FiberTape was provided within a novel surgical technique. After 12 months, the patient was very satisfied with the functional outcome. The patient achieved excellent results in the Constant (98 points), SPADI (0 points), and QuickDASH score (0 points). The described technique results in an anatomic reconstruction of the AC joint. The nonrigid nature of the intervention seems to restore the normal arthrokinematics by reconstructing the coracoclavicular ligaments with an autograft which is then protected by the AC Dog Bone artificial ligaments during the healing period. The arthroscopic approach to the AC joint with minimal exposure reduces the risks and complications of the intervention. This is the first case in literature that utilizes the artificial dog bone ligament securing the autograft in an anatomic AC reconstruction.
First Case in Italy of Fatal Intoxication Involving the New Opioid U-47700
Authors: Enrico Gerace, Alberto Salomone, Clemente Luciano, Daniele Di Corcia, Marco Vincenti
Journal: Front Pharmacol (2018)
Keywords: nps, u-47700, intoxication, postmortem, synthetic opioid
MeSH terms: Case Reports

The drug commonly known as U-47700 is a strong μ-opioid agonist with an approximate potency 7.5 times higher than morphine. It has been available in Europe since 2014, where it is usually sold through the internet or black market as an abuse morphine-like substance. In the case reported here, a Caucasian man was found dead in his apartment. Next to the body, the police seized one transparent plastic bag containing a white powder and two amber glass bottles with nasal spray containing few milliliters of a transparent liquid. During the autopsy, no evidence of natural disease or trauma was found to account for the death. Blood, urine and pubic hair were collected and submitted for toxicological analysis. The content of the seized materials was also submitted to a general screening analysis in order to determine its composition. U-47700 was detected in blood, urine and hair samples using an UHPLC/MS-MS method purposely developed. The blood and urine concentrations were 380 and 10,400 ng/mL, respectively. No other drugs of abuse nor ethanol were found in blood and urine specimens. Pubic hair analysis revealed a frequent past exposure to U-47700. Finally, U-47700 was identified as the main component of the powder and the liquids contained in the nasal spray bottles. The combined circumstantial elements and toxicological results of the case revealed the occurrence of an acute intoxication produced by U-47700 abuse. To the best of our knowledge, this is the first fatal intoxication case reported on the Italian territory involving the synthetic opioid U-47700.
Sugammadex-Associated Hypotension, Bradycardia, Asystole, and Death
Authors: Kazim Mirza, Kathryn Landoski, Dilip Thakar, Jagtar Heir-Singh, Timothy Jackson, Cynthia Kassab
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

On December 16, 2015, the Food and Drug Administration (FDA) in the United States approved sugammadex (Bridion, Merck and Co), a modified gamma-cyclodextrin, to be used as a reversal agent. It is a first and unique selective nondepolarizing steroidal muscle relaxant (NDSMR) binding agent with a great affinity for rocuronium and vecuronium. However, there have been several recently published case reports of bradycardia and asystole immediately after sugammadex administration for the reversal. This report presents a case of sugammadex administration followed by rapidly progressing bradycardia leading to asystole and subsequent death. The family has provided the written consent to share this case report.
Esophagitis after Clozapine Use in a 61-Year-Old Woman with Refractory Schizophrenia
Authors: Sung Min Ma, Junghyun Lim, Chunsu Jiang, Luminita Luca
Journal: Case Rep Psychiatry (2022)
MeSH terms: Case Reports

Clozapine-induced esophagitis has been rarely reported. We herein report a case of a 61-year-old woman with schizophrenia who developed hematemesis, fever, and tachycardia after the initiation of clozapine. An esophagogastroduodenoscopy showed esophageal mucosal ulcerations. Her gastrointestinal symptoms resolved with pantoprazole, allowing continuation of her clozapine treatment. We report here an unusual association of severe esophagitis with clozapine use.
Case Report: Kikuchi-Fujimoto Disease: A case of supraclavicular lymphadenopathy
Authors: Shiza Sarfraz, Hamza Rafique, Hassam Ali, Syed Zawahir Hassan
Journal: F1000Res (2019)
Keywords: cervical lymphadenopathy, lymphadenitis, lymphoma, tuberculosis
MeSH terms: Case Reports

Kikuchi-Fujimoto Disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare cause of cervical lymphadenopathy. Patients usually present with localized lymphadenopathy, fever and fatigue. Because of the poorly understood etiology, it can be mistaken for an infectious disease or even malignance. Here we discuss a case of KFD that initially presented with left sided cervical lymphadenopathy that later progressed to left supraclavicular lymph nodes. Due to its characteristic overlap with other disorders like tuberculous lymphadenitis and lymphoma, KFD remains an arduous diagnosis for physicians. Therefore, one should be made aware of symptoms that can lead to misdiagnosis in patients.
Managing Transition in Patients Treated with Growth Hormone
Authors: Berthold P Hauffa, Philippe Touraine, Tanya Urquhart-Kelly, Ekaterina Koledova
Journal: Front Endocrinol (Lausanne) (2017)
Keywords: adolescent, endocrinology, growth hormone deficiency, pediatric, personalized medicine, transition

Growth hormone (GH) promotes growth in children, but is also essential for bone strength, body composition, metabolic factors, such as lipid profile, and maintenance of quality of life. The Merck KGaA (Germany) funded "360° GH in Europe" meeting, held in Lisbon, Portugal, in June 2016, comprised three sessions entitled "Short Stature Diagnosis and Referral," "Optimizing Patient Management and Adherence," and "Managing Transition." The scientific program covered all stages of pediatric GH treatment, and reported here are the outcomes of the third session of the meeting, which considered transition from pediatric GH treatment to teenage and young adult GH therapy. A large number of patients with chronic diseases, including GH deficiency, drop out of therapy during the transition period. Multiple factors are associated with this, such as lack of understanding of the disease process, insufficient knowledge of treatment options, the patient becoming more independent, and requirement for interaction with a new set of health-care workers. Education regarding disease management and treatment options should be provided from an early age and right through the transition period. However, endocrine specialists will view the transition period differently, depending on whether they are pediatric endocrinologists who mainly deal with congenital diseases, in which auxology is important, or adult endocrinologists who are more concerned with body composition and metabolic factors. View points of both a pediatric and an adult endocrine specialist are presented, together with a case study outlining practical aspects of transition. It was noted in the meeting discussion that having one person to guide a patient through transition from an early age is important, but may be constrained by various factors such as finances, and options will differ by country.
Nivolumab induced myxedema crisis
Authors: Uqba Khan, Humaira Rizvi, Dahlia Sano, Jane Chiu, Tarik Hadid
Journal: J Immunother Cancer (2017)
Keywords: hyperthyroidism, immunotherapy, myxedema crisis, nivolumab
MeSH terms: Antibodies, Monoclonal / adverse effects, Antineoplastic Agents / adverse effects, Myxedema / chemically induced, Case Reports, Carcinoma, Squamous Cell / drug therapy, Female, Humans, Lung Neoplasms / drug therapy, Middle Aged, Myxedema / drug therapy, Nivolumab, Thyroxine / therapeutic use, Antibodies, Monoclonal, Antineoplastic Agents, Nivolumab, Thyroxine

Background:
Nivolumab is an anti-programmed cell death (anti-PD-1) monoclonal antibody that is approved by Food and Drug Administration for treatment of metastatic non-small cell lung cancer, metastatic melanoma, relapsed Hodgkin lymphoma and advanced renal cell cancer. We report a rare case of myxedema crisis induced by nivolumab in a patient with metastatic squamous cell carcinoma of lung.
Case presentation:
Fifty three-year old woman with metastatic squamous cell carcinoma currently on treatment with nivolumab presented with diffuse facial and tongue swelling, slurred speech, depressed mentation, fatigue and weakness. Initial evaluation revealed severe hypothyroidism with thyroid stimulating hormone of 237 micro Unit/mL (Normal Reference range: 0.27-4.20 micro unit/mL) and undetectable free T4. Patient was diagnosed with nivolumab induced myxedema crisis. She was treated successfully with levothyroxine with complete resolution of her symptoms. Nivolumab was safely restarted once the symptoms of myxedema resolved.
Conclusion:
Nivolumab can cause immune-mediated endocrinopathies including thyroiditis, hypophysitis, adrenal insufficiency and type 1 diabetes mellitus. High index of suspicion and periodic measurement of thyroid function tests are recommended in patients receiving nivolumab therapy. Our case also suggests that once the myxedema crisis is treated and symptoms are resolved, nivolumab can be safely re-challenged.