OpenMed/multicare-articles huggingface dataset:
CAR T-Cell Therapy Is Effective but Not Long-Lasting in B-Cell Lymphoma of the Brain
Authors: Tongjuan Li, Lei Zhao, Yuanyuan Zhang, Yi Xiao, Di Wang, Liang Huang, Liya Ma, Liting Chen, Songya Liu, Xiaolu Long, Fankai Meng, Xiaojian Zhu, Jia Wei, Bin Xu, Jianfeng Zhou, Xiaoxi Zhou
Journal: Front Oncol (2020)
Keywords: car t-cell therapy, cns lymphoma, cres, recurrence, tumor immunosuppressive microenvironment
MeSH terms: Case Reports

Advanced central nervous system (CNS) lymphoma is an exclusion criterion for most chimeric antigen receptor (CAR) T-cell studies due to the associated levels of neurotoxicity. In this study, we described five patients with chemorefractory B-cell CNS lymphoma who received CAR19 and CAR22 T-cell "Cocktail" therapy and follow-up for 6-16 months. All patients experienced cytokine release syndrome (CRS). Two patients experienced CAR T-cell-related encephalopathy syndrome (CRES), which was controllable. The best response was observed in two patients, who successfully achieved complete remissions (CR), and the other three patients achieved partial remissions (PR). Four patients had progressive disease (PD) after remission. In addition, one CR patient and one PD patient accepted CAR T-cell infusion following hematopoietic stem cell transplantation therapy in the 3rd month and were in ongoing remission for 14 and 6 months of follow-up, respectively. The targeted antigens in two patients were still positive, and CAR T-cells were reboosted in the cerebrospinal fluid (CSF) after PD, but a small number of CD3-positive T-cells were observed to infiltrate into the tumor. Our study indicates the efficacy of CAR T-cell therapy for CNS lymphoma with an acceptable safety profile; however, the remission did not last long, perhaps due to the tumor immunosuppressive microenvironment (TME) of the CNS. CAR T-cell therapy should be combined with other treatments to help improve the TME of cerebral lymphoma.
A Rare Granular Cell Tumor with a Center Ulcer of the Rectum
Authors: Jeonghun Lee, Younghye Kim
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

We report a very rare case of granular cell tumor with a center ulcer of the rectum, which was detected in a 47-year-old man during screening colonoscopy. It is difficult to distinguish granular cell tumor from other subepithelial tumors. However, our case had a center ulcer unlike previous cases. We confirmed the diagnosis using histological and immunohistochemical examinations. In addition to our case report, we discuss the morphology, size, layer of invasion, and treatment of rectal granular cell tumors based on a literature review.
Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
Authors: Laura Zanatta, Francesca Biscaro, Silvia Bresolin, Maurizio Marzaro, Samantha Sarcognato, Ivana Cataldo, Antonio Marzollo, Stefano Martelossi
Journal: Front Pediatr (2022)
Keywords: ha20, tnfaip 3, anemia, autoimmune diseases (ad), autoinflammatory diseases (aid), colitis, haploinsuffciency
MeSH terms: Case Reports

Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype.
Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography
Authors: Paweł Petkow Dimitrow, Marek Krzanowski, Anetta Undas
Journal: Cardiovasc Ultrasound (2005)
MeSH terms: Coronary Disease / diagnostic imaging, Coronary Disease / etiology, Coronary Vessels / diagnostic imaging, Echocardiography / methods, Echocardiography, Doppler, Color / methods, Fabry Disease / complications, Fabry Disease / diagnostic imaging, Case Reports, Blood Flow Velocity, Coronary Circulation, Humans, Male, Middle Aged

Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional coronary flow reserve from different vascular beds. In this patient all the three vascular beds supplied diffusely hypertrophied myocardium. Coronary flow disturbances in small intramyocardial perforating arteries were visible. The coronary flow reserve was reduced to a similar level (around to 2.0) in all three major arteries. In our patient with Anderson-Fabry disease, the coronary vasodilatation was blunted in a diffuse pattern corresponding to the myocardial hypertrophy distribution. In small intramyocardial arteries coronary flow was also disturbed. Accordingly, retrograde systolic flow and accelerated anterograde diastolic flow were documented.
Changes in Root-Shoot Allometric Relations in Alpine Norway Spruce Trees After Strip Cutting
Authors: Petia Simeonova Nikolova, Jan Geyer, Peter Brang, Paolo Cherubini, Stephan Zimmermann, Holger Gärtner
Journal: Front Plant Sci (2021)
Keywords: norway spruce, biomass allocation, edge trees, mountain forests, root-shoot allometric responses, strip cutting, tree size

Silvicultural interventions such as strip cuttings can change the resource availability of the edge trees. This may alter tree allometry, as light regime, water, and nutrient availability can change at the forest edge. Increased root growth may optimize resource uptake and/or enhance tree anchorage to withstand the altered wind regime. However, little is known about the patterns of the root-shoot allometric responses to strip cuttings. In three alpine stands differing in climate, site productivity, and stand characteristics, we selected 71 Norway spruce trees and took increment cores from stems, root collars, and main roots. This enabled us to study changes in the long-term root-stem allometry for 46 years and short-term allometric responses to intervention. The effects of cutting were compared between edge trees and trees from the stand interior in 10 years before and after the intervention. The long-term allocation to roots increased with stem diameter, with the strongest effects on the regularly managed stand with the tallest and largest trees. These results support the allometric biomass partitioning theory, which postulates resource allocation patterns between different plant organs to depend on plant size. Strip cutting on north-facing slopes boosted edge-tree growth in all plant compartments and enhanced allocation to roots. This change in allometry started 2 years after cutting but disappeared 7-8 years later. In the post-cutting period, the highest root-shoot increase was observed in the small trees independent of the site. This indicates the change in growing conditions to have the strongest effects in formerly suppressed trees. Thus, the effect of such acclimation on the wind firmness of subdominant spruce trees is a question with high importance for optimizing cutting layouts in lowering post-cutting vulnerability to disturbance. The results from this case study contribute to a better understanding of the structural acclimation of spruce trees from high-elevation forests to new forest edges. However, for a more mechanistic understanding of environmental drivers, further analyses of tree-ring stable isotopes are recommended.
Case Report: Pirfenidone in the Treatment of Post-COVID-19 Pulmonary Fibrosis
Authors: Xianglin Zhou, Danhui Yang, Xianglong Kong, Chengli Wei, Siqi LvQiu, Lin Wang, Yongkang Lin, Zhilan Yin, Zhiguo Zhou, Hong Luo
Journal: Front Med (Lausanne) (2022)
Keywords: long covid, pirfenidone, post-covid-19, pulmonary fibrosis, sequelae
MeSH terms: Case Reports

Background:
Pulmonary fibrosis is one of the sequelae of the COVID-19, which seriously affects the quality of life of survivors. Currently, there are no optimal evidence based guidelines targeting this population.
Case presentation:
We report a 66-year-old female patient without underlying comorbidities admitted to Changsha Public Health Center because of COVID-19. During hospitalization, she developed co-bacterial infection and acute respiratory distress syndrome, and received broad-spectrum antibacterial therapy, invasive mechanical ventilation and extracorporeal membrane oxygenation. After the acute phase, she developed post-COVID-19 pulmonary fibrosis subsequently treated with pirfenidone. Over 96 weeks after pirfenidone treatment, her modified Medical Research Council Dyspnea level improved to 2 from 4 at discharge. Her 6 minutes walk test distance, total lung capacity, and diffusion capacity for carbon monoxide all increased. Chest CT performed on 2 years after illness onset showed regressing fibrosis. The Hospital Anxiety and Depression Scale, Athens Insomnia Scale, and 36-Item Short Form Health Survey questionnaire all improved.
Conclusion:
Post-COVID-19 pulmonary fibrosis is a challenging consequence of COVID-19, and our case suggests that pirfenidone may be an effective treatment option.
Case Report: Therapeutic Use of Ibrutinib in a Patient With Schnitzler Syndrome
Authors: Yuehua Huang, Yanying Wang, Fan Yu, Xuehan Mao, Bianhong Wang, Jingxian Li, Lihong Li
Journal: Front Immunol (2022)
Keywords: bruton tyrosine kinase inhibitor, schnitzler syndrome, case report, ibrutinib, interleukin-1
MeSH terms: Exanthema, Schnitzler Syndrome / diagnosis, Schnitzler Syndrome / drug therapy, Urticaria, Case Reports, Adenine / analogs & derivatives, Adult, Antibodies, Monoclonal / therapeutic use, Female, Humans, Piperidines / therapeutic use, Antibodies, Monoclonal, Piperidines, ibrutinib, Adenine

Schnitzler syndrome is a rare adult-onset acquired autoinflammatory disorder typically characterized by chronic urticarial rash and immunoglobulin M (IgM) (rarely IgG) monoclonal gammopathy. Its clinical symptoms usually respond well to interleukin-1 blockade therapy, which, however, does not impact the underlying monoclonal gammopathy. Herein, we described a female patient who presented with urticarial rash, recurrent fevers, and fatigue for 7 years. Laboratory investigations revealed IgMκ monoclonal protein and MYD88 L265P mutation, but no lymphoplasmacytic lymphoma on bone marrow examination. She fulfilled the diagnosis of Schnitzler syndrome and was treated with the Bruton tyrosine kinase inhibitor ibrutinib in combination with prednisone. Her symptoms improved dramatically, and the level of IgMκ monoclonal protein also declined. She tolerated the treatment well. This case highlights the potential therapeutic role of Bruton tyrosine kinase inhibitors in Schnitzler syndrome.
Oral inactivated whole cell vaccine for mucosal immunization: ETVAX case study
Authors: Richard I Walker, A Louis Bourgeois
Journal: Front Immunol (2023)
Keywords: etec vaccine, adjuvant, immunity, oral immunization, vaccine
MeSH terms: Escherichia coli Infections, Escherichia coli Vaccines, Research Support, Non-U.S. Gov't, Adjuvants, Immunologic, Bacteria, Humans, Immunization, Vaccination, Escherichia coli Vaccines, Adjuvants, Immunologic

Oral immunization is an effective strategy for inducing protective immunity against mucosal enteric pathogens. Although live-attenuated as well as subunit approaches have been explored for vaccination against enteric pathogens, inactivated whole bacterial cells may also be effective in introducing protective immunity. Successfully accomplishing this goal with inactivated whole bacterial cells will require that a complex antigenic repertoire be presented in controlled immunogenic amounts, in a safe and relatively simple and self-contained delivery format. The benefit from immunization with whole cell vaccines can be further enhanced through genetic engineering to over-express selected antigens and also by the use of mucosal adjuvants to direct a more robust immunologic response. These steps are being taken for the development of ETVAX, the most clinically advanced vaccine candidate against the major enteric pathogen, enterotoxigenic Escherichia coli (ETEC) with significant positive impact.
Ischaemic heart disease and pregnancy: the tale of two stories
Authors: Mamotabo R Matshela
Journal: Cardiovasc J Afr (2018)
MeSH terms: Acute Coronary Syndrome / diagnosis, Acute Coronary Syndrome / physiopathology, Acute Coronary Syndrome / therapy, Coronary Artery Disease / diagnosis, Coronary Artery Disease / physiopathology, Coronary Artery Disease / therapy, Myocardial Infarction / diagnosis, Myocardial Infarction / physiopathology, Myocardial Infarction / therapy, Pregnancy Complications, Cardiovascular / diagnosis, Pregnancy Complications, Cardiovascular / physiopathology, Pregnancy Complications, Cardiovascular / therapy, Case Reports, Adult, Coronary Angiography, Coronary Artery Bypass / adverse effects, Electrocardiography, Female, Humans, Percutaneous Coronary Intervention / adverse effects, Pregnancy, Risk Factors, Treatment Outcome

Ischaemic heart disease (IHD) is presumed to be rare in pregnancy. Based on that assumption, patients go undiagnosed or undertreated. IHD in pregnancy frequently occurs as a result of an unusual aetiology, therefore each patient needs to be managed individually since each may present differently. This may pose challenges to the consulting clinician. Pregnancy itself is a risk factor for cardiovascular disease, due to its associated hypercoagulable state. From current reports, the prevalence of IHD in females is increasing due to lifestyle changes, including cigarette smoking, diabetes and stress. In our modern societies, women delay childbearing until they are older, allowing time for risk factors to cluster. Although presumed to be rare in pregnant women, IHD is currently estimated to occur three to four times more often during pregnancy in middle- and high-income women, warranting an extensive review highlighting cases of IHD in pregnancy.
Effectiveness of Baricitinib in Refractory Seronegative Rheumatoid Arthritis and Uveitis: A Case Report
Authors: Yutaka Kaneko, Takanori Murakami, Koichi Nishitsuka, Yuya Takakubo, Michiaki Takagi, Hidetoshi Yamashita
Journal: Front Med (Lausanne) (2022)
Keywords: jak inhibitor, baricitinib, new therapeutic target, rheumatoid arthritis, uveitis
MeSH terms: Case Reports

Baricitinib is a Janus kinase (JAK) inhibitor used to treat refractory rheumatoid arthritis and blocks the subtypes JAK1 and JAK2. A 35-year-old man with seronegative rheumatoid arthritis complicated by bilateral severe non-granulomatous panuveitis was resistant to steroid treatment, multiple conventional disease-modifying antirheumatic drugs (methotrexate and salazosulfapyridine), and TNF-α inhibitors (adalimumab and infliximab). Therefore, the TNF-α inhibitors were switched to baricitinib to decrease the activity of systemic arthritis. Along with the amelioration of inflammatory activity in seronegative rheumatoid arthritis, the inflammatory activity of uveitis was decreased. Vitreous opacity, serous retinal detachment, and anterior chamber cells showed improvement. Baricitinib was effective not only in refractory systemic arthritis but also in uveitis, which may provide a new treatment option for patients with refractory uveitis.
Polymyositis-Dermatomyositis and Interstitial Lung Disease in Pregnant Woman Successfully Treated with Cyclosporine and Tapered Steroid Therapy
Authors: Saito Mayu, Sakiko Isojima, Yoko Miura, Shinichiro Nishimi, Mika Hatano, Takahiro Tokunaga, Ryo Takahashi, Keiko Koide, Yusuke Miwa
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Polymyositis-dermatomyositis is extremely rare during pregnancy, and immunosuppressive therapy should be administered after carefully considering the effects on both the mother and fetus. Several reports have associated the disease activity with fetal prognosis, higher rates of eclampsia, preterm births, and fetal deaths. We report our experience with a patient who was diagnosed with polymyositis-dermatomyositis complicated by interstitial lung disease during pregnancy and was treated with a combination-immunosuppressant regimen. To the best of our knowledge, this is the first case wherein cyclosporine was used concomitantly with a steroid for the treatment of polymyositis diagnosed during pregnancy, with successful outcome of childbirth without any complications.
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
Authors: Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen, Yiping Shen
Journal: Mol Cytogenet (2016)
Keywords: 17q112, chromosomal microarray, developmental delay, microcephaly, microdeletion, snp array, short stature
MeSH terms: Case Reports

Background:
Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.
Case presentation:
Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval.
Conclusions:
A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. Seven genes, TAOK1, PHF12, NUFIP2, SLC26A4, SEZ6, GIT1 and TRAF4 are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
Authors: Malene Djursby, Karin Wadt, Jane Hübertz Frederiksen, Majbritt Busk Madsen, Lukas Adrian Berchtold, Jane Preuss Hasselby, Gro Linno Willemoe, Thomas V O Hansen, Anne-Marie Gerdes
Journal: Hered Cancer Clin Pract (2020)
Keywords: apc, adenocarcinoma, colorectal cancer, missense variant, polyposis, splicing
MeSH terms: Case Reports

Background:
We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing analysis reveal that the variant results in skipping of the last 70 nucleotides of the exon, which leads to the introduction of a frameshift and a premature stop codon.
Case presentation:
The variant was detected in two, apparently unrelated, Danish families with an accumulation of colorectal cancers, colonic adenomas and other cancers. The families both have an attenuated familial adenomatous polyposis phenotype, which is consistent with the association of pathogenic variants in the 5' end of the gene.One variant-carrier also had Caroli Disease and a Caroli Disease associated hepatic mucinous cystadenocarcinoma. This is the first description of a person with both Caroli Disease and a pathogenic APC variant, and although the APC variant is not known to be connected to the development of the hepatic malformations in Caroli Disease, it remains unclear whether the variant could have contributed to the carcinogenesis of the liver tumour.
Conclusions:
Based on functional and co-segregation data we classify the APC c.289G>A, p.(Gly97Arg) variant as pathogenic (class 5). Our findings emphasize the importance of a functional evaluation of missense variants although located far from the exon-intron boundaries.
Multiple preputial stones: A case report and literature review
Authors: Muhammad Asykar Palinrungi, Khoirul Kholis, Syakri Syahrir, Syarif, Muhammad Faruk
Journal: Int J Surg Case Rep (2020)
Keywords: case report, circumcision, infection, phimosis, preputial stone, smegma
MeSH terms: Case Reports

Introduction:
Preputial stones are a very rare form of urinary tract stone, and only small number cases have been reported in the literature, and tend to occur in uncircumcised males with poor genital hygiene, low socioeconomic status, and phimosis.
Presentation of case:
Here, we report a case in a male who presented with more than 100 preputial stones. The stones were evident on clinical examination by palpation on the preputial. The patient was treated by dorsal slit circumcision.
Discussion:
Preputial stones can occur at any age but are far more common in adult males. All cases of preputial stone are associated with severe phimosis in uncircumcised males. The symptoms and signs are due to phimosis, like in these patients, which causes urinary stasis beneath the foreskin. The stone is often palpable on examination of the prepuce, and a plain radiograph can confirm this. Neglected preputial stones can cause serious morbidities. Treatment involves the removal of stone and elimination of the predisposing cause.
Conclusions:
This case reminds us of the necessity of circumcision for adult uncircumcised males.