OpenMed/multicare-articles huggingface dataset:
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia
Authors: Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay, Teresa de Souza Fernandez
Journal: Mol Cytogenet (2018)
Keywords: atm, acute myeloid leukemia, classical cytogenetics, fish, fanconi anemia, kmt2a, myelodysplastic syndrome, t(9, 11)
MeSH terms: Case Reports

Background:
Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, mainly in the indication for hematopoietic stem cell transplantation (HSCT). The most frequent chromosomal alterations in the BM of FA patients are gains of the chromosomal regions 1q and 3q, and partial or complete loss of chromosome 7. However, the significance and the predictive value of such clonal alterations, with respect to malignant progress, are not fully understood and data from molecular cytogenetic studies are very limited.
Case presentation:
A five-year-old boy presented recurrent infections and persistent anemia. The BM biopsy revealed hypocellularity. G-banding was performed on BM cells and showed a normal karyotype. The physical examination showed to be characteristic of FA, being the diagnosis confirmed by DEB test. Five years later, even with supportive treatment, the patient presented severe hypocellularity and BM evolution revealing megakaryocyte dysplasia, intense dyserythropoiesis, and 11% myeloblasts. G-banded analysis showed an abnormal karyotype involving a der(9)t(9;11)(p24;q?22). The FISH analysis showed the monoallelic loss of ATM and KMT2A genes. At this moment the diagnosis was MDS, refractory anemia with excess of blasts (RAEB). Allogeneic HSCT was indicated early in the diagnosis, but no donor was found. Decitabine treatment was initiated and well tolerated, although progression to AML occurred 3 months later. Chemotherapy induction was initiated, but there was no response. The patient died due to disease progression and infection complications.
Conclusions:
Molecular cytogenetic analysis showed a yet unreported der(9)t(9;11)(p24;q?22),der(11)t(9;11)(p24;q?22) during the evolution from FA to MDS/AML. The FISH technique was important allowing the identification at the molecular level of the monoallelic deletion involving the KMT2A and ATM genes. Our results suggest that this chromosomal alteration conferred a poor prognosis, being associated with a rapid leukemic transformation and a poor treatment response.
Presence of autoimmune antibody in chikungunya infection
Authors: Wirach Maek-A-Nantawat, Udomsak Silachamroon
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Chikungunya infection has recently re-emerged as an important arthropod-borne disease in Thailand. Recently, Southern Thailand was identified as a potentially endemic area for the chikungunya virus. Here, we report a case of severe musculoskeletal complication, presenting with muscle weakness and swelling of the limbs. During the investigation to exclude autoimmune muscular inflammation, high titers of antinuclear antibody were detected. This is the report of autoimmunity detection associated with an arbovirus infection. The symptoms can mimic autoimmune polymyositis disease, and the condition requires close monitoring before deciding to embark upon prolonged specific treatment with immunomodulators.
Axillary enlargement in gestational gigantomastia, an uncommon presentation of a rare disease. A case report
Authors: Mohammad Naser Athamnah, Mohammad Saleh Al-Share, Enas Mohammed Hajjaj, Liqa N Athamneh, Omar M Abuelaish
Journal: Int J Surg Case Rep (2020)
Keywords: axillary enlargement, case report, conservative management, gestational gigantomastia, gravid macromastia
MeSH terms: Case Reports

Background:
Gestational gigantomastia presents in pregnancy as a rapid and excessive enlargement of the breast reducing the quality of life and causing psychological and physical impairment. Huge axillary enlargement due to Gestational gigantomastia is not mentioned in the literature before. Best treatment remains unclear as conservative and medical management are options beside the more aggressive surgical treatment.
Case presentation:
This is a special case of Gestational gigantomastia presented by huge axillary and breast enlargement in a 34-year-old female. Treated successfully in a conservative manner, a near complete spontaneous resolution happened two months post-delivery.
Conclusion:
Axillary involvement is not mentioned in the limited literature discussing the rare disease of gestational gigantomastia. Not only breast but also axillary area can be involved and enlarge due to this disease. Conservative non-operative management was successful.
Case Report: A Rare Case of Lupus Nephritis Associated With Mantle Cell Lymphoma
Authors: Daorina Bao, Ying Tan, Xiaojuan Yu, Bingjie Wang, Hui Wang, Rong Xu, Fude Zhou, Minghui Zhao
Journal: Front Med (Lausanne) (2021)
Keywords: acute kidney injury, lupus nephritis, mantle cell lymphoma, non-hodgkin lymphoma, secondary sle
MeSH terms: Case Reports

In this research, we described a very rare case of secondary lupus nephritis associated with B-cell lymphoma. An 84-year-old man was hospitalized at our institute for lower extremity edema persisting for over 2 months. He was diagnosed with systemic lupus erythematosus based on clinical and laboratory criteria, which showed impaired renal function and nephrotic syndrome with predominant hematuria. Renal biopsy showed IV+V lupus nephritis with highly infiltrated lymphoid cells in the kidney. Secondary lupus nephritis was suspected based on the possible pathogenesis of glomerular injury due to mantle cell lymphoma. Low-dose dexamethasone, rituximab, and lenalidomide were immediately started on the patient, and his renal function was improved after the first cycle of chemotherapy.
Partial absence of PD-1 expression by tumor-infiltrating EBV-specific CD8+ T cells in EBV-driven lymphoepithelioma-like carcinoma
Authors: Yannick Simoni, Etienne Becht, Shamin Li, Chiew Yee Loh, Joe Poh Sheng Yeong, Tony Kiat Hon Lim, Angela Takano, Daniel Shao Weng Tan, Evan W Newell
Journal: Clin Transl Immunology (2020)
Keywords: cd39, cd8, ebv, lelc, pd‐1, cancer, lymphoepithelioma‐like carcinoma, tetramer, tumor
MeSH terms: Case Reports

Objectives:
Lymphoepithelioma-like carcinoma (LELC) is an uncommon lung cancer, typically observed in young, non-smoking Asian populations. LELC is associated with Epstein-Barr virus (EBV) infection of lung tumor cells of epithelial origin, suggesting a carcinogenic role of EBV as observed in nasopharyngeal carcinoma (NPC). Here, we studied the antigen specificity and phenotype of EBV-specific CD8+ T cells in blood and tumor of one LELC patient positive for EBV infection in lung tumor cells.
Methods:
Using multiplex MHC class I tetramers, mass cytometry and mRNA sequencing, we studied EBV-specific CD8+ T cells at the transcriptomic and phenotypic levels in blood and tumor tissues of the LELC patient.
Results:
Lymphoepithelioma-like carcinoma lung tumor cells were positive for EBV infection. In both blood and tumor tissues, we detected two populations of EBV-specific CD8+ T cells targeting the EBV lytic cycle proteins: BRLF1 and BMLF1. Transcriptomic analyses of these two populations in the tumor, which can be considered as tumor-specific, revealed their distinct exhausted profile and polyclonal TCR repertoire. High-dimensional phenotypical analysis revealed the distinct phenotype of these cells between blood and tumor tissues. In tumor tissue, EBV-specific CD8+ TILs were phenotypically heterogeneous, but consistently expressed CD39. Unexpectedly, although the LELC tumor cells expressed abundant PD-L1, these tumor-specific CD8+ tumor-infiltrating lymphocytes (TILs) mostly did not express PD-1.
Conclusion:
Epstein-Barr virus-specific CD8+ TILs in EBV-driven tumor are heterogeneous and partially lack PD-1 expression, suggesting that anti-PD1/PD-L1 immunotherapy may not be an appropriate strategy for disinhibiting EBV-specific cells in the treatment of LELC patients.
Vertebral Arteriovenous Fistula: An Unwelcome Thrill
Authors: Matthew K Edwards, Erica N Christenson, Brian M Corliss, Adam J Polifka, Brandon R Allen
Journal: Case Rep Emerg Med (2017)
MeSH terms: Case Reports

Cervical vertebral AV fistulae are uncommon vascular lesions involving abnormal communication between the extradural vertebral artery and surrounding venous structures. We examine the case of a female evaluated in the emergency department with a vertebral AV fistula presenting classically as pulsatile tinnitus and later successfully treated with standard endovascular techniques. A discussion on the etiology, pathophysiology, and management of vertebral AV fistulae follows.
Atypical exophytic liver mass: Giant pedunculated hepatic haemangioma masquerading as a gastrointestinal stromal tumour of the gastric wall
Authors: Venkatram Krishnan, Sunil K Bajaj, Abhilash Sethy, Neetika Gupta
Journal: SA J Radiol (2019)
MeSH terms: Case Reports

Haemangioma is the most common benign tumour of the liver. However, an exophytic hepatic haemangioma, especially the pedunculated form, is very rare. Giant pedunculated haemangiomas are prone to complications because of the narrow size of the pedicle. A large number of lesions can potentially present as exophytic liver masses, and accurate diagnosis can sometimes be challenging. We report a case of an incidentally discovered asymptomatic giant pedunculated liver haemangioma in the region of the lesser sac in a prospective renal donor, which was initially suspected to be a gastrointestinal stromal tumour of the stomach wall. Multiphasic computed tomography and confirmatory magnetic resonance imaging scans ultimately revealed the true nature of the lesion, which turned out to be an exophytic pedunculated hepatic haemangioma from the left lobe of the liver. The lesion was then surgically resected and histopathologically confirmed to be a haemangioma. The patient subsequently underwent successful renal donation as planned. Being a benign lesion with characteristic imaging features, accurate radiological diagnosis is absolutely essential for the appropriate management of such atypical haemangiomas.
A bullet in the supraspinatus compartment successfully removed by arthroscopy: case report and review of the literature
Authors: Alexandre Galland, Alexandre Lunebourg, Stéphane Airaudi, Renaud Gravier
Journal: Case Rep Orthop (2015)

Arthroscopic removal of bullet from intra-articular compartment has been described for several joints. Only few reports dealing with this condition in the shoulder have been reported especially for the glenohumeral and the subacromial compartments. We report the story of a fifty-seven-year-old man presenting a bullet in the supraspinatus compartment of his left shoulder successfully removed by arthroscopy.
Vital Life-Threatening Hematoma after Implant Insertion in the Anterior Mandible: A Case Report and Review of the Literature
Authors: Eik Schiegnitz, Maximilian Moergel, Wilfried Wagner
Journal: Case Rep Dent (2015)

Dental implant insertion is considered a safe and reliable surgical procedure and severe complications are seldom reported. However, we present a case of a 52-year-old patient who attended our Department of Oral and Maxillofacial Surgery, Johannes Gutenberg University Medical Center, Mainz, with spreading hematoma in the floor of the mouth and acute airway obstruction after insertion of a dental implant in the anterior mandible. The hematoma was removed and submentally drained by a silicon drainage. However, the progressive swelling of the tongue and the floor of the mouth necessitated a temporary tracheotomy for three days. The review of the literature summarizes guidelines for prevention and management of this life-threatening complication.
A successfully treated case of Lemmel syndrome with pancreaticobiliary maljunction: A case report
Authors: Mitsuru Yanagaki, Hiroaki Shiba, Shin Hagiwara, Masato Hoshino, Hitoshi Sakuda, Yoshiyuki Furukawa, Katsuhiko Yanaga
Journal: Int J Surg Case Rep (2020)
Keywords: lemmel syndrome, pancreaticobiliary maljunction, parapapillary diverticulum
MeSH terms: Case Reports

Background:
Lemmel syndrome is a rare condition that leads to cholangitis and/or pancreatitis due to intraduodenal diverticulum. Surgery is considered for the treatment of severe or repeated symptoms in patients with this condition.
Case presentation:
An 81-year-old woman was admitted to our hospital, complaining of general fatigue, BT 38.8 degree, and right hypochondoralgia. Her hepatobiliary enzyme levels were elevated, and enhanced abdominal computed tomography revealed dilation of the common bile duct and intraduodenal diverticulum. After restarting oral intake, her symptoms were exacerbated. Endoscopic retrograde cholangio-pancreatography (ERCP) revealed pancreaticobiliary maljunction and parapapillary diverticulum. Under a diagnosis of Lemmel syndrome with pancreaticobiliary maljunction complicated by acute pancreatitis and cholangitis, we performed extrahepatic bile duct resection with cholecystectomy and papilloplasty. Her postoperative course was uneventful, and the patient was discharged 20 days after surgery. She remains well at 5 months after surgery.
Conclusion:
We herein report a successfully diagnosed and treated case of Lemmel syndrome with pancreaticobiliary maljunction.
Multilineage Lymphoblastic Lymphoma as an Initial Presentation of Mixed Phenotype Acute Leukemia
Authors: Mako Ikeda, Wataru Nakahara, Mizuki Asako, Yuka Umeki, Yoshiki Matsuoka, Takuya Terakawa, Hitomi Matsunaga, Yuki Iwasa, Riko Saito, Yuki Iwama, Takahiro Matsui, Kazumasa Oka, Shuji Ueda
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Mixed phenotype acute leukemia (MPAL) is characterized by leukemic blasts that express markers of multiple lineages. Compared with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), MPAL is considered to have a poor treatment outcome. We report a case of MPAL T/myeloid not otherwise specified that was initially presented as multilineage lymphoblastic lymphoma and subsequently developed into leukemic MPAL. An acute lymphoblastic leukemia-based treatment regimen was ineffective, but azacitidine and venetoclax therapy resulted in hematological complete remission. Our case suggests that multilineage lymphoblastic lymphoma should be considered to be the same disease as MPAL, albeit with different clinical presentations. Optimal treatment for MPAL has not been established yet, but azacitidine and venetoclax therapy may be a potential approach.
Stevens-Johnson Syndrome and Herpes Simplex Type 1 Infection during Adalimumab Therapy for Crohn's Disease
Authors: Jenny Roselli, Tommaso Innocenti, Erica Nicola Lynch, Laura Parisio, Pasquale Apolito, Tommaso Mello, Giuseppe Macrì, Monica Milla, Maria Rosa Biagini, Mirko Tarocchi, Stefano Milani, Andrea Galli
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Stevens-Johnson syndrome (SJS) is a severe mucocutaneous adverse drug reaction with a relatively high mortality rate. SJS is described during herpes simplex virus type 1 (HSV1) infection and, rarely, even during adalimumab therapy. We report the case of a patient with Crohn's disease who developed SJS during an HSV1 infection and a contemporaneous anti-TNFα therapy with adalimumab. Remission was achieved with suspension of adalimumab and high doses of intravenous steroids and antivirals. Patients with HSV1 infection and on adalimumab therapy have a combined risk of SJS and should be monitored closely.
Atrial fibrillation in healthy adolescents after highly caffeinated beverage consumption: two case reports
Authors: Jennifer R Di Rocco, Adelaide During, Peter J Morelli, Marybeth Heyden, Thomas A Biancaniello
Journal: J Med Case Rep (2011)

Introduction:
Energy drinks and highly caffeinated drinks comprise some of the fastest growing products of the beverage industry, often targeting teenagers and young adults. Cardiac arrhythmias in children related to high caffeine consumption have not been well described in the literature. This case series describes the possible association between the consumption of highly caffeinated drinks and the subsequent development of atrial fibrillation in the adolescent population.
Case presentations:
We report the cases of two Caucasian adolescent boys of 14 and 16 years of age at the time of presentation, each without a significant cardiac history, who presented with palpitations or vague chest discomfort or both after a recent history of excessive caffeine consumption. Both were found to have atrial fibrillation on electrocardiogram; one patient required digoxin to restore a normal sinus rhythm, and the other self-converted after intravenous fluid administration.
Conclusion:
With the increasing popularity of energy drinks in the pediatric and adolescent population, physicians should be aware of the arrhythmogenic potential associated with highly caffeinated beverage consumption. It is important for pediatricians to understand the lack of regulation in the caffeine content and other ingredients of these high-energy beverages and their complications so that parents and children can be educated about the risk of cardiac arrhythmias with excessive energy drink consumption.
A Coronary Conundrum: Papillary Muscle Rupture and Ischemic Mitral Regurgitation Secondary to Coronary Thromboembolism in Antiphospholipid Syndrome
Authors: Amar Shere, Pradyumna Agasthi, Farouk Mookadam, Sudheer Konduru, Reza Arsanjani
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: antiphospholipid syndrome, coronary thromboembolism, ischemic mitral regurgitation, papillary muscle rupture
MeSH terms: Heart Rupture / complications, Heart Valve Prosthesis Implantation, Mitral Valve Insufficiency / surgery, Papillary Muscles / surgery, Thromboembolism / complications, Case Reports, Antiphospholipid Syndrome / complications, Heart Rupture / surgery, Humans, Male, Middle Aged, Mitral Valve Insufficiency / etiology, Papillary Muscles / injuries

Antiphospholipid syndrome (APS) is an autoimmune disorder that has a strong propensity for a hypercoagulable state and is known to be associated with venous and arterial thromboembolism. We describe an uncommon case of APS in the setting of non-Hodgkin's lymphoma, with thromboembolism, and a rare complication after an uncommon etiology of myocardial infarction. This case highlights the importance of early and appropriate type of anticoagulation to reduce the morbidity and mortality in patients with APS.
Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance
Authors: Shu Liu, Yue Ren, Di Wang, Dan Xiao, Zhuang Li, Dan Xu, Yan Sun, Zhuoshi Wang, Jijing Pang
Journal: Front Med (Lausanne) (2023)
Keywords: crb1 gene, clinical manifestations, familial (isolated) foveal retinoschisis, genetic testing, recessive mutation
MeSH terms: Case Reports

X-linked retinoschisis is more common in male children and rare in females. Clinically, male patients mainly present with early onset visual impairment or vision loss, and retinal retinoschisis due to division of the inner retina. We report a long-term observation of a female patient with familial foveal retinoschisis (FFR) caused by CRB1 gene with complex heterozygotic mutation. The initial symptoms of the female patient reported in this study were very similar to some early manifestations of X-linked retinoschisis (XLRS) caused by RS1 mutations involving macular fovea. However, as time going on, the splitting height at retinal fovea of FFR gradually decreased, and the splitting extent at retinal fovea of FFR gradually decreased.
Primary pulmonary hodgkin lymphoma simulating a mediastinal tumour: an uncommon occurrence
Authors: Stefano Fratoni, Elisabetta Abruzzese, Pasquale Niscola, Malgorzata Monika Trawinska, Edoardo Mercadante, Andrea Casullo, Paolo de Fabritiis, Alessio Perrotti, Giuseppe Santeusanio
Journal: Mediterr J Hematol Infect Dis (2013)
MeSH terms: Case Reports

The case of a patient with primary pulmonary Hodgkin Lymphoma simulating a mediastinal tumour is reported for its rarity and the diagnostic concerns encountered by us.
A case of left frontal high-grade glioma diagnosed during pregnancy
Authors: Kotoe Kamata, Risa Fukushima, Minoru Nomura, Makoto Ozaki
Journal: JA Clin Rep (2017)
Keywords: awake craniotomy, decision-making, high-grade glioma, pregnancy, therapeutic strategy

Background:
As pregnancy accelerates glioma growth, therapeutic abortion has been recommended prior to tumor resection. Additionally, it has also been suggested that the extent of glioma resection is closely correlated with patient survival.
Case presentation:
A 162-cm, 61.4-kg, 30-year-old, right-handed primigravida was referred to our institution at 21 weeks gestation to obtain a second opinion. At 18 weeks gestation, the patient developed new-onset generalized convulsive seizures (GCSs), which were poorly controlled by anticonvulsant polytherapy, early in the second trimester. A 6-cm lesion located in her left frontal supplementary motor area (SMA) was suspected as a grade III glioma, classified according to the World Health Organization (WHO) guidelines. Due to the limited evidence on the use of adjuvant therapy during pregnancy, tumors causing neurological symptoms and seizures must be treated, in order to stabilize the maternal condition and enable a safe birth. In the case of pregnant patients, awake craniotomy using intraoperative magnetic resonance imaging (iMRI) is considered advantageous, achieving gross total resection with a reduction of direct cortical stimulation, which may induce seizure, and so reducing fetal exposure to anesthetics. The "Asleep-Awake-Asleep" technique was performed at 27 weeks and 2 days gestation. As use of propofol in pregnant patients is prohibited, general anesthesia was maintained through administration of sevoflurane and remifentanil until the first scan of iMRI, and was subsequently re-induced with dexmedetomidine when tumor removal had been accomplished. A supraglottic airway (SGA) was used until the patient's cranium was opened. There were no complications during either the procedure or the post-operative period. At 35 weeks gestation, the patient delivered a healthy baby of 2317 g. Pathological examination of the patient, revealed an anaplastic astrocytoma, thus radiotherapy and chemotherapy began 2 months post-delivery. There is no evidence of tumor recurrence in the patient and the child did not show any medical or developmental concerns at the point of the 17-month follow-up.
Conclusions:
Since evidence on the use of adjuvant therapy during pregnancy is limited, extensive resection with functional monitoring is recommended if a brain tumor is presumed to be malignant. Awake craniotomy is considered advantageous to pregnant patients because subjective movement preserves the patient's motor function and reduces fetal exposure to anesthetics. Therefore, providing multidisciplinary discussion takes place within the decision-making process, as well as careful perioperative preparation, awake craniotomy should be considered, even in the case of pregnant patients.