OpenMed/multicare-articles huggingface dataset:
Case Report: Convalescent Plasma Therapy Induced Anti-SARS-CoV-2 T Cell Expansion, NK Cell Maturation and Virus Clearance in a B Cell Deficient Patient After CD19 CAR T Cell Therapy
Authors: Berislav Bošnjak, Ivan Odak, Christiane Ritter, Klaus Stahl, Theresa Graalmann, Lars Steinbrück, Rainer Blasczyk, Christine S Falk, Thomas F Schulz, Hans Heinrich Wedemeyer, Markus Cornberg, Arnold Ganser, Reinhold Förster, Christian Koenecke
Journal: Front Immunol (2021)
Keywords: cd19 car-t cell, covid – 19, nk cell, sars – cov – 2, t cell, convalescent plasma (cp)
MeSH terms: B-Lymphocytes / immunology, COVID-19 / immunology, COVID-19 / therapy, Immunologic Deficiency Syndromes / immunology, Immunotherapy, Adoptive, Killer Cells, Natural / immunology, T-Lymphocytes / immunology, Case Reports, Research Support, Non-U.S. Gov't, COVID-19 / complications, COVID-19 Serotherapy, Female, Humans, Immunization, Passive, Immunoglobulins, Intravenous, Immunologic Deficiency Syndromes / complications, Lymphocyte Activation, Lymphopoiesis, SARS-CoV-2, Viral Load, Immunoglobulins, Intravenous

Here, we described the case of a B cell-deficient patient after CD19 CAR-T cell therapy for refractory B cell Non-Hodgkin Lymphoma with protracted coronavirus disease 2019 (COVID-19). For weeks, this patient only inefficiently contained the virus while convalescent plasma transfusion correlated with virus clearance. Interestingly, following convalescent plasma therapy natural killer cells matured and virus-specific T cells expanded, presumably allowing virus clearance and recovery from the disease. Our findings, thus, suggest that convalescent plasma therapy can activate cellular immune responses to clear SARS-CoV-2 infections. If confirmed in larger clinical studies, these data could be of general importance for the treatment of COVID-19 patients.
Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment
Authors: Bingbo Zhou, Chuan Zhang, Lei Zheng, Zhiqiang Wang, Xue Chen, Xuan Feng, Qinghua Zhang, Shengju Hao, Liwan Wei, Weiyue Gu, Ling Hui
Journal: Front Genet (2021)
Keywords: gria2 gene, behavioral abnormalities, case report, language impairment, neurodevelopmental disorder
MeSH terms: Case Reports

Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type subunit 2 (GRIA2) gene, which manifest as impaired mental development or developmental delay, behavioral abnormalities including autistic characteristics, and language disorders. Currently, only a few mutations in the GRIA2 gene have been discovered. Methods: A GRIA2 variation was detected in a patient by whole-exome sequencing, and the site was validated by Sanger sequencing from the family. Results: We report a Chinese case of NEDLIB in a girl with language impairment and developmental delay through whole-exome sequencing (WES). Genetic analysis showed that there was a de novo missense mutation, c.1934T > G (p.Leu645Arg), in the GRIA2 gene (NM_001083619.1), which has never been reported before. Conclusion: Our case shows the potential diagnostic role of WES in NEDLIB, expands the GRIA2 gene mutation spectrum, and further deepens the understanding of NEDLIB. Deepening the study of the genetic and clinical heterogeneity, treatment, and prognosis of the disease is still our future challenge and focus.
Splenic Injury Following Endoscopic Retrograde Cholangiopancreatography - A Role for Angioembolization
Authors: Divyansh Agarwal, Philicia Moonsamy, Carlos Fernandez-Del Castillo
Journal: J Belg Soc Radiol (2022)
Keywords: ercp, splenic hematoma, angioembolization, jaundice
MeSH terms: Case Reports

Teaching Point: Splenic injury is an uncommon complication after endoscopic retrograde cholangiopancreatography (ERCP), requiring a high degree of suspicion in a patient who develops abdominal pain and/or hypotension after ERCP; in the appropriately selected patient splenic angioembolization can be the first-line treatment option.
Case Report: Intensive Inpatient Neurorehabilitation Achieves Sustained Real-World Benefits in Severe Alcohol-Related Wernicke-Korsakoff Syndrome: A Case Study With 7-Years Follow-Up
Authors: Mareike Schrader, Stephan Bamborschke, Ute Lenk, Annette Sterr
Journal: Front Psychol (2021)
Keywords: wernicke-korsakoff syndrome, case study, cognitive deficit, societal participation, tobacco alcohol optic neuropathy
MeSH terms: Case Reports

About 85% of survivors of acute Wernicke's Encephalopathy (WE), a frequent and serious consequence of thiamine deficiency and alcohol misuse, sustain chronic neurocognitive deficits also known as chronic Wernicke-Korsakoff syndrome (WKS). If alcoholism is combined with smoking, tobacco alcohol optic neuropathy (TAON) may occur which leads to visual impairment. In contrast to WKS, TAON may be treated successfully by early vitamin substitution and detoxification. Little research has been conducted on WKS longterm outcomes. Existing literature suggests poor prognosis. Symptoms remaining beyond the acute treatment with thiamine are thought to be irreversible. Whether neurorehabilitation may be an effective route to help recovery of those persistent symptoms is an open question. At our neurorehabilitation center, which specializes in the treatment of severe chronic deficits after brain injury, the opportunity arose to treat a 35 year old male with WKS, and to conduct follow-up assessments 3- and 7-years post discharge, respectively. Initially MK was admitted to emergency care with suspected postconcussive syndrome, alcohol-related thiamine deficiency, and TAON. Thiamin, cobalamin, and folate substituion improved TAON but major cognitive deficits remained. When admitted to our center 4 months later, he was fully reliant on care staff for all activities of daily living (ADL). Through intensive neurocognive training and psychological treatment he improved gradually and, after 26 months, was well enough to be discharged into the community and pursue work in a sheltered setting. Neuropsychological tests, as well as patient reports obtained at the follow-ups showed that the benefits apparent at discharge had been sustained, and for some scores, improved further. This was particularly evident in the Rey-Osterrieth Complex Figure Test which improved from percentage ranges <1 for immediate recognition and recall at discharge to rank 16 for immediate recognition and rank 5 for recall at the 7-year follow-up. This case study illustrates the immense benefits neurorehabilitation can have for WKS induced by alcohol misuse. It further demonstrates how skills and strategies, learned in the inpatient setting, translate into living well and independently, and how the latter promotes further improvement long after discharge.
When the Midline Diastema Is Not Characteristic of the "Ugly Duckling" Stage
Authors: Orlando Motohiro Tanaka, Alessandro Yuske Kusano Morino, Oscar Fernando Machuca, Neblyssa Ágatha Schneider
Journal: Case Rep Dent (2015)

This case report presents the interceptive orthodontic treatment of a 9-year, 5-month-old boy with class I malocclusion, a 9.0-mm maxillary midline diastema, and deviation from the midline. The treatment goals were to decrease the magnitude of the diastema and to simulate the characteristics of the "ugly duckling" stage. Braces were placed on the first molars and the maxillary central incisors. The biomechanics of the anchors on the first molars elicited substantial mesial movement of the left central incisor to match the midline. A flat wire segment was bonded onto the palatal surface of the central incisors for retention.
Vulval Intestinal/Enteric Heterotopia in a Patient with Crohn's Disease
Authors: Jean-Christophe Noël, Cristina Rotea, Laurine Verset, Xavier Catteau
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Intestinal/enteric heterotopia of the vulva is an extremely rare disease with only 3 cases described in the literature. We report here an unusual case of this disease occurring in a 26-year-old patient in a context of Crohn's disease. To the best of our knowledge, such type of association has not been previously described. The potential origins of these lesions including metaplastic transformation, dysontogenetic changes, or epithelial colonic displacement/implantation are discussed.
Left atrium papillary fibroelastomas: a cause of cerebral emboli
Authors: A G Ciss, P S Ba, P A Dieng, K Azarnoush, L Camilleri, E Geoffroy, A Innorta, B Legault, B Cosserant, C de Riberolles, M N'diaye
Journal: Case Rep Cardiol (2012)
MeSH terms: Case Reports

Papillary fibroelastomas are cardiac benign tumours. Among the benign cardiac tumor, papillary fibroelastomas are reported second after myxomas. Most often diagnosed incidentally, papillary fibroelastomas may embolize to cerebral circulation. Valvular locations are predominant; location in left atrium is rare. In this paper, we present a case of papillary fibroelastoma located in left atrium with symptoms of cerebral embolization. Transoesophageal echocardiography diagnosed a mobile mass. The patient was treated with surgical resection without further embolic complication.
Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency
Authors: Lin Cheng, Ying Li, Wenjuan Zhou, Tao Bo
Journal: Front Pediatr (2022)
Keywords: coagulation factor v, congenital factor v deficiency, factor v gene, mutation, uniparental disomy
MeSH terms: Case Reports

We summarized two cases of congenital factor V deficiency (FVD) associated with a novel F5 mutation, and analyzed the relationship of the clinical features and genetic characteristics in congenital FVD. Case 1 was a female newborn infant with remarkable bleeding who died of severe intracranial hemorrhage on day 42 after birth. She had significant prolongation of prothrombin time (PT) and activated partial thromboplastin time (APTT). The percentage activity of FV (PFV) was lower than 3% in case 1. The mother of case 1 showed no tendency to bleed. She had mild prolongation of PT and APTT. The PFV was only 43%. Both cases were found to have the same novel mutation in F5, which was c.5419G>A (p.Ala1807Thr) in exon 16. The variant in case 1 was inherited from the mother of case 1. Whole-exome sequencing (WES) also found a splice site mutation: a 103 Mb maternal uniparental disomy (UPD) of 1q21.1-qter in case 1, in which the F5 gene is located in this segment. So case 1 was homozygote and the mother of case 1 was heterozygote. The novel mutation of F5 was predicted to be harmful by bioinformatics software including Sorting Intolerant From Tolerant (SIFT), Polyphen2, LRT, and Mutation Taster. In summary, c.5419G>A (p.Ala1807Thr) in exon 16 of F5 is a pathogenic mutation, which causes severe congenital FVD in homozygote patients.
Diffuse cutaneous mucinosis in dermatomyositis: a case report and review of the literature
Authors: Alexandra Caitlin Perel-Winkler, Chris T Derk
Journal: Case Rep Dermatol Med (2014)

We present the case of a patient with dermatomyositis and diffuse cutaneous mucinosis and give an up-to-date detailed review of all the published cases in the English literature describing the demographics, clinical picture, pathology management, and outcomes of this unique group of patients.
Case Report: A Case of COVID Vaccine-Induced Thrombotic Thrombocytopenia Manifested as Pulmonary Embolism and Hemorrhagia. A First Reported Case From Slovakia
Authors: Martin Ihnatko, Ivana Truchla, L'udmila Ihnatková, Zoltán Prohászka, Ivica Lazúrová
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, adenoviral vector vaccine, hemorrhagia, pulmonary embolism, vaccine-induced thrombotic thrombocytopenia
MeSH terms: Case Reports

COVID-19 vaccine-induced thrombotic thrombocytopenia (VITT) is a rare complication of adenoviral vector (ChAdOx1 nCoV-19) vaccine administration. It is presented as thrombocytopenia and thrombotic manifestations in various sites, especially in cerebral veins. Pulmonary emboli have been reported rarely. We present a case of a young male patient who developed severe thrombocytopenia and pulmonary embolism 12 days after the first dose of the vaccine. Severe thrombocytopenia, skin hematomas, and segmental pulmonary emboli were detected. Anti-platelet factor 4 (aPF-4) antibody was highly positive supporting the diagnosis of VITT. Prompt treatment with fondaparinux, intravenous immunoglobulin, and prednisone led to a marked improvement of clinical condition and thrombocytes count. We report the first known case of VITT in Slovakia.
Primary Squamous Cell Carcinoma of the Breast during Pregnancy: A Case Report
Authors: John Adi Ashindoitiang, Francis Adedayo Faduyile, Olufemi Joshua Taiwo
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Primary squamous cell carcinoma of the breast (SCCB) is a very rare malignancy of the breast and is generally aggressive. It is even rarer during the gestational period. Only few cases have been reported during pregnancy and lactation (Rokutanda et al., 2000). SCCB seen within the gestational period tends to be very aggressive and has a larger size than other breast carcinomas. Pure SCCB is derived from the epidermis of the breast, nipple, or metaplasia on chronic inflammatory background (Bige et al., 2007), such as complicated breast cyst, dermoid cyst, or abscess. We report a case of SCCB in a 30-year-old primigravida that had an aggressive propensity and fatal outcome.
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families
Authors: Mohammad Al-Haggar, Osamu Sakamoto, Ali Shaltout, Amany El-Hawary, Yahya Wahba, Dina Abdel-Hadi
Journal: Case Rep Nephrol (2011)
MeSH terms: Case Reports

Background. Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA) were deleted (c.253 254delGA) and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A). Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.
A Novel Method for Predicting Disease-Associated LncRNA-MiRNA Pairs Based on the Higher-Order Orthogonal Iteration
Authors: Zhanwei Xuan, Xiang Feng, Jingwen Yu, Pengyao Ping, Haochen Zhao, Xianyou Zhu, Lei Wang
Journal: Comput Math Methods Med (2019)
MeSH terms: Breast Neoplasms / genetics, Colonic Neoplasms / genetics, MicroRNAs / genetics, Prostatic Neoplasms / genetics, RNA, Long Noncoding / genetics, Algorithms, Area Under Curve, Computer Simulation, Female, Genetic Predisposition to Disease, Humans, Male, Models, Genetic, Multigene Family, Normal Distribution, ROC Curve, Research Design, Risk Factors, Software, MicroRNAs, RNA, Long Noncoding

A lot of research studies have shown that many complex human diseases are associated not only with microRNAs (miRNAs) but also with long noncoding RNAs (lncRNAs). However, most of the current existing studies focus on the prediction of disease-related miRNAs or lncRNAs, and to our knowledge, until now, there are few literature studies reported to pay attention to the study of impact of miRNA-lncRNA pairs on diseases, although more and more studies have shown that both lncRNAs and miRNAs play important roles in cell proliferation and differentiation during the recent years. The identification of disease-related genes provides great insight into the underlying pathogenesis of diseases at a system level. In this study, a novel model called PADLMHOOI was proposed to predict potential associations between diseases and lncRNA-miRNA pairs based on the higher-order orthogonal iteration, and in order to evaluate its prediction performance, the global and local LOOCV were implemented, respectively, and simulation results demonstrated that PADLMHOOI could achieve reliable AUCs of 0.9545 and 0.8874 in global and local LOOCV separately. Moreover, case studies further demonstrated the effectiveness of PADLMHOOI to infer unknown disease-related lncRNA-miRNA pairs.
Combined Surgical Techniques for the Management of Malignant Glaucoma
Authors: Jinfei Tang, Ergang Du, Xingyu Li
Journal: J Ophthalmol (2018)

Purpose:
To characterize new combined surgical techniques for the management of malignant glaucoma.
Methods:
In a retrospective, interventional case series, goniosynechialysis, peripheral iridectomy, zonulo-hyaloidectomy, and anterior vitrectomy, with or without peripheral capsulectomy, were performed on nine eyes. If the patient was phakic, we performed both phacoemulsification and intraocular lens implantation.
Results:
Resolution of malignant glaucoma was achieved in all cases with anterior chamber deepening. Topical antiglaucoma medications were used to control the intraocular pressure in one eye. No recurrence was observed after a median follow-up of 9 months. No complications occurred during surgery or the postoperative period.
Conclusions:
The combined surgical methods can completely eliminate blockade and aqueous misdirection and represent a promising treatment for malignant glaucoma.
Sclerosing Encapsulating Peritonitis: Abdominal Cocoon
Authors: Sho Fujiwara, Ryujiro Akaishi, Tomoki Yokosawa
Journal: Cureus (2023)
Keywords: abdominal cocoon, resection, sclerosing encapsulating peritonitis, small bowel resection, small-bowel obstruction, tuberculosis peritonitis
MeSH terms: Case Reports

Sclerosing encapsulating peritonitis is a rare chronic inflammatory condition often with unknown origins. We report a case of an abdominal cocoon or sclerosing encapsulating peritonitis, which was suspected to be a result of bowel obstruction. Tuberculosis peritonitis was also suspected. However, the exact diagnosis was unclear, and it was diagnosed as an idiopathic abdominal cocoon. The patient's history is of clear relevance in this diagnosis, and this report will be of interest to clinicians attending to cases of bowel obstruction.
Conservative management of complete traumatic pancreatic body transection; A case report
Authors: W Duggan, E Hannan, C Brosnan, S O'Sullivan, K Conlon
Journal: Int J Surg Case Rep (2020)
MeSH terms: Case Reports

Introduction:
Isolated pancreatic body transection secondary to blunt abdominal trauma is a very rare injury associated with poor outcomes. Almost all previously reported cases were managed by emergency distal pancreatectomy, which is associated with high morbidity and mortality. To our knowledge, this is the first reported case of complete transection of the pancreas at the body that was successfully treated by conservative management in an adult patient.
Presentation of case:
A 19-year-old male was found to have complete transection of the pancreatic body on computed tomography (CT) following blunt force abdominal trauma. Given that he was haemodynamically stable without evidence of haemorrhage or bile leakage on imaging, a trial of conservative management was initiated. He remained well through his admission, gradually improving clinically and biochemically with stable appearances on serial imaging. He remains asymptomatic as of six months since discharge from the hospital and continues to be monitored in the outpatient setting.
Discussion:
Management of pancreatic trauma with ductal injury has typically been with emergency distal pancreatectomy, which is associated with high morbidity and mortality. The decision to operate should not be purely based on radiological findings, and should take into account clinical status, haemodynamic stability, coexisting injuries and evidence of active haemorrhage or bile leak.
Conclusion:
In select cases, it is reasonable to trial conservative management in isolated traumatic pancreatic body fracture by means of close clinical observation and serial imaging. This may allow the patient to avoid a high-risk emergency distal pancreatectomy.
Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
Authors: Halim Yilmaz, Gulten Erkin, Haluk Gumus, Lutfiye Nalbant
Journal: Case Rep Neurol Med (2013)

In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented.
A rare case of vanishing lung syndrome
Authors: Nidhi Sood, Nikhil Sood
Journal: Case Rep Pulmonol (2011)
MeSH terms: Case Reports

We describe here a rare case of Idiopathic Bullous Emphysema/Vanishing Lung Syndrome (VLS) in a 33-year-old male patient with a history of marijuana abuse who presents to the hospital with pleuritic chest pain thought to be due to pneumothorax based on the chest radiograph. This case emphasizes the need to obtain chest computed tomography in a relatively stable patient suspected of VLS to reduce the potential risk of overseeing a bronchopleural fistula.