OpenMed/multicare-articles huggingface dataset:
Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans
Authors: Qing Zhang, Yongzhi Ju, Xia You, Tingting Sun, Yi Ding
Journal: Front Oncol (2022)
Keywords: dfsp (dermatofibrosarcoma protuberans), ercc2 gene, ngs - next generation sequencing, sarcoma, xeroderma pigmentosa
MeSH terms: Case Reports

Dermatofibrosarcoma protuberans (DFSP) is a kind of soft tissue sarcoma, mostly occurs in the trunk, followed by proximal extremities and head and neck. Surgical resection is the most important treatment for DFSP, but the local recurrence rate of DFSP is high. Except reported specific chromosomal tran7slocations occurred in DFSP, the association between DNA repair gene mutations and DFSP still unknown. In this report we found a 19-year-old boy with DFSP carries a novel heterozygous germline ERCC2 mutation, which belongs to the nucleotide excision repair (NER) pathway and genetic defects in ERCC2 may contribute to the cancer susceptibility xeroderma pigmentosum (XP), Cocaine syndrome (CS), and trichothiodystrophy (TTD). Different mutations of the ERCC2 gene can lead to diverse diseases, but there are no targeted therapies. In summary, our results enlarged the mutation spectrum of the DFSP patients. It also provides new insights into genetic counseling and targeted therapeutic strategies for patients with DFSP.
Extensive Bone Lengthening for a Patient with Linear Morphea
Authors: Kenichi Mishima, Hiroshi Kitoh, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Naoki Ishiguro
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Localized scleroderma, also known as morphea, is a rare condition characterized by progressive sclerosis of the skin and associated atrophy of the underlying tissues. The linear type of localized scleroderma is the most frequent form in childhood, usually affecting unilateral extremities. Fibrosclerosis of the fasciae and muscles can spread across joints and impair the range of motion of the joint. Dysplastic and/or atrophic bones of the affected lower extremity can lead to clinically significant leg length discrepancy (LLD). Limb reconstruction surgery has rarely been indicated for LLD in patients with linear morphea. We report on a case of extensive bone lengthening for appreciable LLD in a pediatric patient with linear morphea. A Japanese girl with linear morphea underwent staged simultaneous lengthening of the femur and tibia twice at seven and eleven years of age using a unilateral external fixator. A healing index exceeded 100 days/cm except for the first femoral lengthening that was complicated by regenerate fracture. At the final follow-up, LLD of 38 mm remained, but she could walk independently without a brace or a crutch. Due to soft tissue tightness and poor regenerative ability in the affected limb, cautions should be taken to prevent regenerate fracture and/or malalignment of the limb.
Management of a Type I Hypersensitivity Reaction to IV Etoposide in a Woman with a Yolk Sac Tumor: A Case Report
Authors: David Starks, Deborah Prinz, Amy Armstrong, Lindsay Means, Steven Waggoner, Robert Debernardo
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Type I hypersensitivity reactions to intravenous administration of etoposide are extremely rare. Etoposide is an essential component of several chemotherapy regimens used in gynecologic oncology, and discontinuation of this drug during a course of treatment should only be due to severe patient intolerance. We report the successful use of intravenous etoposide phosphate as a substitute drug in a patient with a yolk sac tumor who manifested a Type I hypersensitivity to intravenous etoposide. The patient ultimately completed all 4 cycles of bleomycin, etoposide, cisplatin (BEP) using etoposide phosphate as a substitute drug.
Incidental Anomalous Left Coronary Artery in a Transplanted Heart
Authors: Sri Harsha Patlolla, Saraschandra Vallabhajosyula, Malcolm R Bell
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Anomalous coronary artery is an uncommon congenital cardiac anomaly that is often detected incidentally on coronary angiography. It has rarely been reported in the donor heart of patients who have undergone cardiac transplantation. Here, we report a case of a 72-year-old patient who received a second heart transplant and has been identified to have an anomalous left main coronary artery originating from the right coronary sinus on postoperative coronary angiography.
Nivolumab-induced capillary leak syndrome associated with chylothorax in a melanoma patient: A case report and review of the literature
Authors: Carole Neuville, François Aubin, Eve Puzenat, Dragos Popescu, Thomas Crepin, Charlée Nardin
Journal: Front Oncol (2022)
Keywords: vegf, adverse event, anti-pd1, capillary leak syndrome, chylothorax, immune checkpoint inhibitor
MeSH terms: Case Reports

Introduction:
Adverse events (AEs) of immune checkpoint inhibitors (ICIs) are frequent and mainly due to an overactivity of the immune system leading to excessive inflammatory responses (immune-related AE) that can affect any organ of the body. Beside the most frequent AEs, there are rare AEs whose diagnosis and treatment can be challenging. We report here a singular case of capillary leak syndrome (CLS) associated with chylothorax occurring in a patient who has been treated with adjuvant nivolumab (anti-PD1) for resected AJCC stage IIB primary melanoma.
Case presentation:
A 43-year-old woman was diagnosed with a nodular stage IIB melanoma of her left thigh, according to the AJCC 8th edition (T3bN0M0). The woman was treated with adjuvant nivolumab. She stopped the treatment after 4 infusions due to thrombopenia. Three months later, she developed facial and leg edema and ascites due to capillary leak syndrome. The CLS was associated with chylothorax and elevated vascular endothelial growth factor. The patient was initially treated with several pleural puncturing and steroids. CLS and chylothorax progressively decreased with intravenous immunoglobulins and fat-free diet without recurrence of melanoma at one-year follow-up.
Conclusion:
CLS is a rare and potentially life-threatening AE of ICIs such as anti-PD1. This AE may be associated with chylothorax probably related to lymphatic permeability induced by anti-PD1.
Intraperitoneal bladder rupture mimicking acute renal failure
Authors: K G Arun, Salahauddin, V Leela, J Noel, K Venkatesh, S Ramakrishnan, R Dilip
Journal: Indian J Nephrol (2008)
Keywords: acute renal failure, bladder rupture
MeSH terms: Case Reports

We describe a patient who presented with acute onset of abdominal pain, oliguria, gross hematuria and uremia. Further examination revealed spontaneous intraperitoneal rupture of the urinary bladder. Upon repair of the rupture, his biochemistry normalized within 24 h. Acute renal failure is characterized by an abrupt decline in glomerular filtration rate (GFR), biochemically reflected by elevation in serum creatinine level. It usually displays multifactorial etiology and can be classified as prerenal, renal and postrenal. In this case report, we describe a situation in which the increase in serum creatinine level was not related to any of these factors and was associated with normal GFR and absorption of urine across the peritoneal membrane following spontaneous rupture of bladder.
Case Report: Malignant Melanoma Associated With COVID-19: A Coincidence or a Clue?
Authors: A Arturo Leis, Anna Peyton Montesi, Sariya Maryam Khan, Michael Montesi
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, sars-cov-2, cytokines, inflammation, malignant melanoma (mm), tumorigenic
MeSH terms: Case Reports

Following SARS-CoV-2 infection in humans, there is upregulation of proinflammatory molecules S100 calcium binding protein B (S100B), high-mobility group box-1 (HMGB1), osteopontin (OPN), tumor necrosis factor alpha (TNF-α), and other cytokines that promote hyperinflammation. The same immunoregulatory proteins that fuel the COVID-19 "cytokine storm" are also produced by melanoma cells and various other cancers to promote tumorigenesis. We report three cases of malignant melanoma (MM) associated with severe COVID-19, the first two with amelanotic melanoma and the third with hypopigmented melanoma. It is noteworthy that we did not search for these cases. Patient 1 is a personal acquaintance and cases 2 and 3 were hospitalized and worked at our rehabilitation center, respectively. We hypothesize that SARS-CoV-2 induced inflammatory tumorigenic proteins in the microenvironment that may have contributed to the de novo development (case 1), aggressive growth (case 2), or recurrence (case 3) of these malignant tumors. Moreover, high concentrations of the same proinflammatory proteins found in the "cytokine storm" associated with COVID-19, including TNF-α, interleukin (IL)-1α, IL-1β, IL-6, and ferritin, also induce skin depigmentation or hypopigmentation by interfering with tyrosinase synthesis, the enzyme that catalyzes the rate-limiting step of pigmentation. Hence, the marked elevation of the biological effectors that decrease skin pigmentation may also reduce pigmentation in MMs, resulting in amelanotic or hypopigmented lesions. Although it is certainly possible that the occurrence of melanoma following COVID-19 is coincidental, the ability of SARS-CoV-2 to increase expression of proinflammatory and tumorigenic molecules warrants further investigations to determine if there is an association between these disease processes or implications for patients with melanoma or other cancers who develop COVID-19.
Diagnosis and Treatment of Myeloproliferative Neoplasms With PCM1-JAK2 Rearrangement: Case Report and Literature Review
Authors: Yingxin Sun, Yifeng Cai, Jia Chen, Jiannong Cen, Mingqing Zhu, Jinlan Pan, Depei Wu, Aining Sun, Suning Chen
Journal: Front Oncol (2021)
Keywords: pcm1-jak2, case report, myeloproliferative neoplasms, pegylated interferon, ruxolitinib
MeSH terms: Case Reports

Myeloproliferative neoplasm (MPN) with PCM1-JAK2 rearrangement is a rare disease with poor prognosis and lacks uniform treatment guidelines. Several studies confirmed the efficacy of ruxolitinib in hematological malignancies with PCM1-JAK2 fusion, but the efficacy is variable. Here, we report two patients diagnosed with MPN with PCM1-JAK2 fusion who were treated with ruxolitinib-based regimen, including the first case of ruxolitinib combined with pegylated interferon (Peg-IFN), and we conduct a literature review. We found that ruxolitinib combined with Peg-IFN is an effective treatment option in the case of poor efficacy of ruxolitinib monotherapy.
Use of hemodialysis for the treatment of intracerebral hemorrhage in patients on dabigatran with normal renal function
Authors: Thin Thin Maw, Brian L Henry, Tripti Singh
Journal: Clin Nephrol Case Stud (2014)
Keywords: dabigatran, hemodialysis, intracerebral hemorrhage
MeSH terms: Case Reports

Dabigatran is a direct thrombin inhibitor which is approved by the Food and Drug Administration (FDA) for prevention of embolic stroke in patients with atrial fibrillation. Dabigatran has been shown to be non- inferior to warfarin in preventing stroke in patients with atrial fibrillation [1, 6]. The rate of major bleeding in patients taking dabigatran is also similar to that seen in patients on warfarin [1]. Unlike warfarin, there is currently no antidote available for reversal of anticoagulant effects of dabigatran [2, 3]. Dabigatran is excreted renally and accumulates in patients with acute kidney injury (AKI). Hemodialysis has been reported to increase clearance of dabigatran in patients with acute kidney injury and life-threatening bleeding [4, 5]. We present two cases of dabigatran-associated intracranial hemorrhage where hemodialysis was used to accelerate clearance of dabigatran from the blood in patients with normal renal function.
Adverse events with ayurvedic medicines- possible adulteration and some inherent toxicities
Authors: Buddhi Paudyal, Astha Thapa, Keshav Raj Sigdel, Sudeep Adhikari, Buddha Basnyat
Journal: Wellcome Open Res (2019)
Keywords: ayurvedic medicine, adulteration, alkaloids, heavy metals
MeSH terms: Case Reports

Ayurvedic medicine, a traditional system of medicine practiced in the Indian subcontinent is considered to be devoid of adverse events. We report three cases which highlight the possibility of adverse events related with the use of ayurvedic products. A 35 year old woman with hepatitis took ayurvedic powder medicine and swarnabhasma (gold salt) and had her liver injury worsened, possibly due to alkaloids, and developed nephrotic syndrome, possibly due to gold salt. A 57 year old hypertensive man was taking ayurvedic medicine containing reserpine which had long been withdrawn from the allopathic system of medicine due to wide range of side effects. A 47 year old woman with rheumatoid arthritis was taking an unknown tablet containing steroid as an adulterant for 2 years and developed side effects typical of steroid excess. We would like to highlight the fact that ayurvedic medicines do have propensity to cause adverse events due to adulteration or inherent constituents like alkaloids, and hence may not always be completely safe.
Snakebite Induced Thrombotic Microangiopathy Leading to Renal Cortical Necrosis
Authors: Ying Mao Gn, Arvind Ponnusamy, Vikram Thimma
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Renal complications from snakebite result in high mortality and morbidity. Acute kidney injury (AKI) occurs in 5-30% of cases. Renal manifestation could include acute tubular necrosis, cortical necrosis, interstitial nephritis, glomerulonephritis, and vasculitis. We present a case of thrombotic microangiopathy (TMA) resulting in renal cortical necrosis. Renal biopsy showed fibrin thrombi in glomeruli and arterioles with cortical necrosis. Our patient progressed to end-stage renal disease.
Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child with DiGeorge Syndrome
Authors: Lotte Møller Smedegaard, Claus Bohn Christiansen, Linea Cecilie Melchior, Anja Poulsen
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Introduction:
Chickenpox is caused by varicella zoster virus (VZV). Although predominantly a mild disease, it can cause considerable morbidity and in rare occasions even mortality in healthy children as well as increased morbidity and mortality in immunocompromised patients. The aetiology of appendicitis is largely unknown but is thought to be multifactorial. Appendicitis is a suspected, but not well documented, complication from varicella zoster virus infection.
Case presentation:
A five-year-old girl diagnosed with DiGeorge syndrome and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, vomiting, and poor general condition. She developed perforated appendicitis and an intraperitoneal abscess. VZV DNA was detected by PCR in two samples from the appendix and pus from the abdomen, respectively. The child was treated with acyclovir and antibiotics and the abscess was drained twice. She was discharged two weeks after referral with no sequela.
Conclusion:
Abdominal pain in children with viral infections can be a challenge, and appendicitis has to be considered as a complication to acute viral diseases, especially if the child is immunocompromised.
Whole-body magnetic resonance for staging and response assessment of lymphoma in a pregnant woman treated with antenatal chemotherapy
Authors: Domenico Albano, Caterina Patti, Donatella Narese, Antonino Mulè, Massimo Midiri, Massimo Galia
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A 32-year-old pregnant female presented with bilateral supraclavicular swelling, diffuse itching and right shoulder pain. After lymph nodal biopsy, a diagnosis of nodular sclerosis Hodgkin's lymphoma was obtained. A multidisciplinary team decided to start chemotherapy before the delivery, and whole-body MRI was used to stage the disease and evaluate the response after antenatal chemotherapy. This case shows that whole-body MRI is an attractive procedure that avoids radiation exposure and contrast administration, and enables staging and follow-up of a pregnant patient without risk to the fetus.
Gigant transethmoidal meningoencephalocele operated by full endonasal endoscopic approach: case report
Authors: Omar Lopez Arbolay, Jorge Rojas Manresa, Justo Gonzalez Gonzalez, Jose Luis Bretón Rosario
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Intranasal meningoencephaloceles have historically been managed by neurosurgeons, although their main clinical manifestations are rhinological. Recent advances in endoscopic skull base surgery has significantly improved the treatment of these lesions and consequently diminished appreciable surgical morbidity. We report an ethmoidal meningoencephalocele case operated on by endonasal endoscopic approach for removal of the lesion and reconstructing the associated skull base. From this experience, we conclude that removal of the lesion and watertight closure of the skull base irrespective of the size of the mass and anterior skull base defect are the operation's most important aspects.
Four Acid-Base Disturbances in a Critically-Ill Patient Undergoing Emergent Abdominal Surgery
Authors: Orestes Mavrothalassitis, Balkarn S Thind, Ashish Agrawal
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Lactic acidosis is common in critically-ill surgical patients, but not all perioperative acid-base imbalances are attributable to tissue hypoperfusion. Other causes of acid-base abnormalities can be missed when focused on acute resuscitation of a surgical pathology. This report presents the case of a 60-year-old woman with no past medical history who underwent exploratory laparotomy for umbilical hernia with incarcerated and perforated bowel whose perioperative management was complicated by four acid-base disturbances, including starvation ketosis. This case highlights the importance of early recognition of acid-base imbalances to explain concurrent medical pathology and accurately predict a patient's expected post-operative course.
Case Report: Tocilizumab for the Treatment of SARS-CoV-2 Infection in a Patient With Aplastic Anemia
Authors: Gina Keiffer, Zachary French, Lindsay Wilde, Joanne Filicko-O'Hara, Usama Gergis, Adam F Binder
Journal: Front Oncol (2020)
Keywords: covid-19, sars-cov-2, aplastic anemia, cytokine storm, tocilizumab
MeSH terms: Case Reports

While cytokine storm develops in a minority of patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, novel treatment approaches are desperately needed for those in whom it does. Tocilizumab, an interleukin-6 receptor antibody, has been utilized for the treatment of cytokine storm in a number of severe inflammatory conditions, including in patients with severe coronavirus disease 2019 (COVID-19). Here, we present the first published case utilizing this therapy in a patient with underlying immunodeficiency. Our patient with aplastic anemia developed cytokine storm due to COVID-19 manifested by fever, severe hypoxia, pulmonary infiltrates, and elevated inflammatory markers. Following treatment with tocilizumab, cytokine storm resolved, and the patient was ultimately safely discharged from the hospital.
Celiac Disease After Administration of Immune Checkpoint Inhibitors: A Case Report
Authors: Julie Leblanc, Solene Hoibian, Agathe Boucraut, Jean-Philippe Ratone, Louis Stoffaes, Domitille Dano, Delphine Louvel-Perrot, Brice Chanez, Anne-Sophie Chretien, Anne Madroszyk, Philippe Rochigneux
Journal: Front Immunol (2021)
Keywords: case report, celiac disease, digestive toxicity, immune checkpoint inhibitors, immune toxicity, nivolumab
MeSH terms: Celiac Disease / chemically induced, Immune Checkpoint Inhibitors / adverse effects, Mesothelioma / drug therapy, Nivolumab / adverse effects, Pleural Neoplasms / drug therapy, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Case Reports, Research Support, Non-U.S. Gov't, Aged, Autoantibodies / blood, Celiac Disease / diagnosis, Celiac Disease / immunology, Celiac Disease / therapy, Diet, Gluten-Free, Glucocorticoids / therapeutic use, Humans, Immunoglobulin A / blood, Male, Mesothelioma / immunology, Pleural Neoplasms / immunology, Programmed Cell Death 1 Receptor / immunology, Protein Glutamine gamma Glutamyltransferase 2 / immunology, Proton Pump Inhibitors / therapeutic use, Treatment Outcome, Autoantibodies, Glucocorticoids, Immune Checkpoint Inhibitors, Immunoglobulin A, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Proton Pump Inhibitors, TGM2 protein, human, Nivolumab, Protein Glutamine gamma Glutamyltransferase 2

Immune checkpoint inhibitors (ICI) reinvigorate the immune system to recognize and destroy tumor cells. Because of this biological mechanism, patients might develop autoimmune toxicities, notably in the digestive tract (most frequently, hepatitis or colitis). A 70-year-old man with relapsed mesothelioma was treated with nivolumab in 3rd line. He was hospitalized for watery and foul-smelling diarrhea. He underwent gastrointestinal endoscopy, showing duodenitis and villous atrophy and measurement of serum IgA antibodies to tissue transglutaminase (tTG-IgA+), leading to the diagnosis of ICI-induced celiac disease. He was treated with steroids, proton pump inhibitors, and a gluten-free diet. If ICI-induced celiac disease is rare in the literature, increasing reports suggest that celiac disease might represent an underestimated ICI toxicity. This case highlights the necessity of complementary investigation (including tTG-IgA and endoscopic biopsies) in patients with atypical digestive symptoms during immunotherapy.
Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
Authors: Keneilwe Molebatsi, Anthony A Olashore
Journal: S Afr J Psychiatr (2018)
MeSH terms: Case Reports

DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch. Evidence from cytogenetic studies has linked the pathogenesis of DGS with a deletion of a gene located in chromosome 22-band 22q11. In most affected individuals, the deletion is de novo; however, inheritance has been reported in 10% - 25% of patients. DGS commonly presents with a classical triad of conotruncal cardiac anomalies, hypoplastic thymus and hypocalcaemia. DGS may be of focus to a psychiatrist as it is associated with cognitive deficits, high rates of schizophrenia and anxiety disorders. Patients may also present to mental health care workers with learning disabilities, developmental delay and behavioural disorders such as attention-deficit or hyperactivity disorder. Mental health workers therefore play an invaluable role in the diagnosis and timely treatment of the disorder. In a resource-limited area such as Botswana, with scarce mental health professionals, paediatricians and neurologists, DGS may be frequently misdiagnosed with consequent inappropriate interventions that may increase morbidity. Herein, we present a case to raise awareness and demonstrate one of the varied ways the syndrome may present. The multifaceted nature of DGS presentation underscores the need for a multidisciplinary approach to treatment.