OpenMed/multicare-articles huggingface dataset:
Excellent Outcome Following Sibling Peripheral Blood Hematopoietic Stem Cell Transplantation for Glanzmann Thrombasthenia: A Case Report
Authors: Jian Hua Li, Shu Wen Sun, Yuan Ai, Xue Yang, Yi Ping Zhu
Journal: Front Pediatr (2022)
Keywords: glanzmann thrombasthenia, bone marrow transplantation, peripheral blood stem cell transplantation, platelet disorder, sibling
MeSH terms: Case Reports

Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding. GT diagnosis mainly depends on platelet function analysis, flow cytometry, and gene detection. Treatment methods include conservative symptomatic treatment and allogeneic hematopoietic stem cell transplantation (allo-HSCT). Allo-HSCT is the only clinical radical method for GT. Herein, we report a 2-year-old boy with GT successfully cured by related identical peripheral blood stem cell transplantation (PBSCT). The platelet disorder was corrected to a normal level after PBSCT, with no significant complication related to the transplantation. Hematopoietic stem cell transplantation with full-matched donor in early stage could be a treatment option for GT.
Fibroadenoma of Axillary Ectopic Breast Tissue
Authors: Nazmi Kurt, Elif Mercan Demirtas, Nermin Tuncbilek
Journal: J Belg Soc Radiol (2021)
Keywords: axilla, fibroadenoma, mri, ultrasound
MeSH terms: Case Reports

Teaching point: Ectopic breast fibroadenoma is a rare benign neoplasm that may mimic pathological lymph node clinically and on imaging.
Periosteal Pedicle Flap Harvested during Vestibular Extension for Root Coverage
Authors: Shubham Kumar, Krishna Kumar Gupta, Rahul Agrawal, Pratima Srivastava, Shalabh Soni
Journal: Case Rep Dent (2015)

Root exposure along with inadequate vestibular depth is a common clinical finding. Treatment option includes many techniques to treat such defects for obtaining predictable root coverage. Normally, the vestibular depth is increased first followed by a second surgery for root coverage. The present case report describes a single-stage technique for vestibular extension and root coverage in a single tooth by using the Periosteal Pedicle Flap (PPF). This technique involves no donor site morbidity and allows for reflection of sufficient amount of periosteal flap tissue with its own blood supply at the surgical site, thus increasing the chances of success of root coverage with simultaneous increase in vestibular depth.
Global suppression of electrocortical activity in unilateral perinatal thalamic stroke
Authors: Liudmila Kharoshankaya, Peter M Filan, Conor O Bogue, Deirdre M Murray, Geraldine B Boylan
Journal: Dev Med Child Neurol (2014)
MeSH terms: Cerebral Cortex / physiopathology, Functional Laterality, Seizures / complications, Seizures / etiology, Thalamus / pathology, Case Reports, Research Support, Non-U.S. Gov't, Brain Infarction / etiology, Brain Infarction / pathology, Electroencephalography, Humans, Infant, Magnetic Resonance Imaging, Male

We present an unusual case of persistent generalized electroencephalography (EEG) suppression and right-sided clonic seizures in a male infant born at 40(+2) weeks' gestation, birthweight 3240g, with an isolated unilateral thalamic stroke. The EEG at 13 hours after birth showed a generalized very low amplitude background pattern, which progressed to frequent electrographic seizures over the left hemisphere. The interictal background EEG pattern remained grossly abnormal over the next 48 hours, showing very low background amplitudes (<10μV). Magnetic resonance imaging revealed an isolated acute left-sided thalamic infarction. This is the first description of severe global EEG suppression caused by an isolated unilateral thalamic stroke and supports the role of the thalamus as the control centre for cortical electrical activity.
Mesenchymal Hamartoma of the Liver: Complete Excision Always Necessary
Authors: Suman B Koganti, Venu Madhav Thumma, Bheerappa Nagari
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Mesenchymal hamartoma (MH) is not an uncommon tumor of the liver in the age group of 2-10 years. It is the second most common benign liver tumor in children. Previously considered a developmental anomaly, newer insights into other theories of origin including toxic-metabolic, ischemic, and a true neoplastic process are in progress. Previous understanding of a purely benign nature of the tumor is being overridden by a real malignant transformation. Complete excision of the tumor with clear margins is recommended to achieve a long term cure. A thorough understanding of the natural history of these tumors and skillful surgical treatment are indispensable elements of care.
On the Relation between the General Affective Meaning and the Basic Sublexical, Lexical, and Inter-lexical Features of Poetic Texts-A Case Study Using 57 Poems of H. M. Enzensberger
Authors: Susann Ullrich, Arash Aryani, Maria Kraxenberger, Arthur M Jacobs, Markus Conrad
Journal: Front Psychol (2017)
Keywords: emophon, enzensberger, basic affective tone, general affective meaning, interlexical measures, neurocognitive poetics, phonological iconicity

The literary genre of poetry is inherently related to the expression and elicitation of emotion via both content and form. To explore the nature of this affective impact at an extremely basic textual level, we collected ratings on eight different general affective meaning scales-valence, arousal, friendliness, sadness, spitefulness, poeticity, onomatopoeia, and liking-for 57 German poems ("die verteidigung der wölfe") which the contemporary author H. M. Enzensberger had labeled as either "friendly," "sad," or "spiteful." Following Jakobson's (1960) view on the vivid interplay of hierarchical text levels, we used multiple regression analyses to explore the specific influences of affective features from three different text levels (sublexical, lexical, and inter-lexical) on the perceived general affective meaning of the poems using three types of predictors: (1) Lexical predictor variables capturing the mean valence and arousal potential of words; (2) Inter-lexical predictors quantifying peaks, ranges, and dynamic changes within the lexical affective content; (3) Sublexical measures of basic affective tone according to sound-meaning correspondences at the sublexical level (see Aryani et al., 2016). We find the lexical predictors to account for a major amount of up to 50% of the variance in affective ratings. Moreover, inter-lexical and sublexical predictors account for a large portion of additional variance in the perceived general affective meaning. Together, the affective properties of all used textual features account for 43-70% of the variance in the affective ratings and still for 23-48% of the variance in the more abstract aesthetic ratings. In sum, our approach represents a novel method that successfully relates a prominent part of variance in perceived general affective meaning in this corpus of German poems to quantitative estimates of affective properties of textual components at the sublexical, lexical, and inter-lexical level.
Rare finding of concomitant pseudomelanosis of stomach and duodenum; case report and literature review
Authors: Tagore Sunkara, Megan E Caughey, Vinaya Gaduputi
Journal: Gastroenterol Hepatol Bed Bench (2018)
Keywords: hyperpigmentation, melanosis duodeni, melanosis gastri, pseudomelanosis
MeSH terms: Case Reports

Melanosis of the stomach and duodenum is a rare entity and a striking finding diagnosed by upper gastrointestinal endoscopy. Here, we describe the case of an 83-year-old female, with a complicated medical history, who was referred to gastroenterologist to assess bleeding risk. From the endoscopy, it was determined that she had both melanosis gastri and duodeni. Although both are rare, gastric melanosis appears to be even more unusual than duodenal melanosis, with only a few reported cases documented in the literature thus far.
Donor-Derived CD123-Targeted CAR T Cell Serves as a RIC Regimen for Haploidentical Transplantation in a Patient With FUS-ERG+ AML
Authors: Sun Yao, Chen Jianlin, Liu Yarong, Li Botao, Wang Qinghan, Fang Hongliang, Zhang Lu, Ning Hongmei, Wang Pin, Chen Hu, Hu Liangding, Zhang Bin
Journal: Front Oncol (2019)
Keywords: cd123, fus-erg, acute myeloid leukemia, allogeneic hematopoietic stem cell transplantation, chimeric antigen receptor, cytokine release syndrome, graft-vs-host disease
MeSH terms: Case Reports

Background: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) following chemotherapy is part of standard treatment protocol for patients with acute myeloid leukemia (AML). FUS-ERG+ AML is rare but has an extremely poor prognosis even with allo-HSCT in remission, possibly due to its a leukemia stem cell (LSC)-driven disease resulting in chemotherapy resistance and a novel therapy is urgently required. It has been reported that FUS-ERG-positive AML expresses CD123, a marker of LSC, in some cases. CD123-targeted CAR T cell (CART123) is promising immunotherapy, but how to improve the complete remission (CR) rate and rescue potential hematopoietic toxicity still need to explore. Case Presentation: We used donor-derived CART123 as part of conditioning regimen for haploidentical HSCT (haplo-HSCT) in a patient with FUS-ERG+ AML who relapsed after allogeneic transplantation within 3 months, resists to multi-agent chemotherapy and donor lymphocyte infusion (DLI) and remained non-remission, aiming to reduce these chemotherapy-resistant blasts and rescue potential hematopoietic toxicity. The blasts in BM were reduced within 2 weeks and coincided with CAR copies expansion after CART123 infusion. The patient achieved full donor chimerism, CR with incomplete blood count recovery, and myeloid implantation. Conclusion: Our results hints that CART123 reduces the chemotherapy-resistant AML blasts for FUS-ERG+ AML without affecting the full donor chimerism and myeloid implantation.
Identification of water use behavior and calculation of water footprint: a case study
Authors: Pelin Okutan, Atilla Akkoyunlu
Journal: Appl Water Sci (2021)
Keywords: climate change, resilience, smart city, sustainability, virtual water footprint, water footprint

This article adds to the literature on the investigation of water use behavior of people under their daily routines. A self-administrated survey of water users was conducted for both graduate and undergraduate students at Boğaziçi University, Turkey in 2019. This study quantifies and maps the water footprint (WF) of Boğaziçi University (BU). It reports preferences of students and personnel in terms of indoor water use, outdoor water use, and virtual water use such as transportation, shopping, and dietary preferences. Water footprints are estimated per person for both engineering students and all students of BU. WF of an average BU student is above the average WF of Turkey as well as the average global WF. The attributes that influence the water use behavior of people were broadly categorized into two groups, which were dietary preferences and shopping preferences. Moreover, the eating pattern of a person regarding whether a person consumes meat was the largest contributor to the WF of BU. The results of this study can help to develop a basic understanding of WF and how it is affected by people's choices. This study is also unique by calculating water footprint in terms of direct and virtual water footprint by considering people's daily choices in Turkey.
Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
Authors: Aleksandra Szczawińska-Popłonyk, Lidia Ossowska, Katarzyna Jończyk-Potoczna
Journal: Front Pediatr (2020)
Keywords: children, granulomatous liver disease, hyper-igm phenotype, hypersplenism, primary immunodeficiency
MeSH terms: Case Reports

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, combined immunodeficiency, and oculocutaneous telangiectasia. The hyper-IgM phenotype of A-T, correlating with a class-switch recombination defect, IgG and IgA deficiency, T helper and B cell lymphopenia, immune dysregulation, proinflammatory immune response, autoimmune disease, and a high risk of lymphomagenesis. Progressive liver disease is a hallmark of classical A-T with the hyper-IgM phenotype and manifests as non-alcoholic hepatic steatosis and fibrosis. We report a case of a 17-year-old male A-T patient, in whom a progressive granulomatous liver disease with portal hypertension, has led to massive splenomegaly and hypersplenism, metabolic liver insufficiency, bleeding from esophageal varices and pancytopenia. In this patient, an unusual severe disease course with a highly variable constellation of A-T symptomatology includes granulomatous skin, visceral, and internal organs disease with liver involvement. The liver disease is associated with the hyper-IgM immunophenotype and escalating neurodegeneration, creating a vicious circle of immune deficiency, permanent systemic inflammatory response, and organ-specific immunopathology.
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome
Authors: Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called "dynamic mosaicism", phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1-r(13)(p13q32.3), patient 2-r(13)(p11q33.3), and patient 3-r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.
α 4 β 7 Integrin Antagonist Vedolizumab for the Treatment of Refractory Ileitis
Authors: Rafał Filip, Błażej Goliat, Małgorzata Dziechciaż, Piotr Dąbrowski, Michał Osuchowski, Piotr Paluszkiewicz
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Background and aims:
Ulcerative colitis (UC) is a superficial diffuse inflammation restricted to the colon and rectum. Inflammation within the small bowel may occur several years after a pancolectomy. The pathogenesis is unknown and seems to be different from Crohn's disease or other causes of diseases of the small intestine, but an association with colectomy due to UC is very likely.
Methods and results:
We describe the case of a patient with a probable diagnosis of pan-UC accompanied by Sjögren's syndrome and partial IgA deficiency, who developed enteritis after a restorative pancolectomy. For induction and maintenance of remission, the patient was successfully treated with mycofenolate mofetil (MMF) and vedolizumab (VDZ).
Conclusions:
We suggest that a previously refractory to standard therapy UC-related enteritis can be treated with combination MMF and VDZ.
Case Report: Successful Immunotherapy Improved the Prognosis of the Unfavorable Subset of Cancer of Unknown Primary
Authors: Jie Mei, Hao Wang, Honghong Fan, Junli Ding, Junying Xu
Journal: Front Immunol (2022)
Keywords: pd-l1, cancers of unknown primary, case report, combinational therapy, immunotherapy, molecular profiling
MeSH terms: Neoplasms, Unknown Primary / therapy, Case Reports, Research Support, Non-U.S. Gov't, Humans, Immunotherapy, Male, Middle Aged, Paclitaxel, Positron Emission Tomography Computed Tomography, Prognosis, Paclitaxel

Background:
Cancer of unknown primary (CUP) is heterogeneous and has a wide variety of clinical presentations and a poor prognosis in most patients, with a median overall survival of only 6 months. The development of molecular profiling contributes to precision therapy, and targeted drugs and immune checkpoint inhibitors (ICIs) greatly promote individualized treatment.
Case presentation:
Here, we reported a case of an unfavorable subset of CUP who had a long time of survival after the immunotherapy-prominent comprehensive treatment. A 48-year-old man presented with back pain and a cough. A diagnostic work-up showed bone marrow, multiple bones, and lymph node metastasis. Lymph node pathology implies metastatic poorly differentiated cancer. Next-generation sequencing (NGS) showed no special targets, but the tumor proportion score (TPS) of programmed death-ligand 1 (PD-L1) was 80% and the tumor mutation burden (TMB) was 16.7 per million bases. After two cycles of pembrolizumab 200 mg D1 plus nanoparticle albumin-bound (nab)-paclitaxel 200 mg D1&8 (q3w), PET-CT and bone marrow aspiration cytology showed a complete response (CR). Subsequently, pembrolizumab alone was used for three months. The left inguinal lymph nodes showed new metastasis. After two cycles of the combination treatment of pembrolizumab and (nab)-paclitaxel, a partial response (PR) was achieved. After seven months, retroperitoneal lymph nodes showed new metastasis, and the sequential treatment with radiotherapy and pembrolizumab exhibited encouraging efficacy. To date, the patient has survived nearly 40 months with the combination therapy.
Conclusions:
The ICI-prominent comprehensive treatment provided clinical benefit for the reported case of CUP. Thus, CUP patients with markers of benefiting from immunotherapy should be actively treated with immunotherapy to improve their prognosis.
Infected "Mycotic" Aneurysm of the Common Carotid Artery-A Differential Diagnosis to Tumor of the Neck
Authors: Patrick R G Eriksen, Gitte B Hvilsom, Preben Homøe
Journal: Front Surg (2018)
Keywords: deep neck infections, diagnostic imaging, differentional diagnostic, mycotic aneurysm, neck surgery, syphilis, unknown primary cancer
MeSH terms: Case Reports

Introduction: Infected "mycotic" Aneurysm (IA) of the extracranial carotid artery is a rare condition that can be fatal if mistaken for other pathology. An 83-year-old man presented with a mass on the neck initially suspected malignant. Weeks later it grew rapidly and was found to be an IA, thus requiring acute surgery. Via this case report, we discuss diagnostics and approach when diagnosing masses in relation to vessels of the neck not readily explained. Case Report: After diagnostic imaging and clinical assessment an unknown primary tumor of the neck was suspected. Fine needle aspiration was inconclusive. The patient did not present with any signs of infection or neurological symptoms-only discomfort and pain. Approximately two weeks later, the mass grew and the patient became dysphagic, febrile, and confused. Computed tomography angiography revealed an IA of the right common carotid artery. The patient underwent acute surgery consisting of ligation of the internal and external carotid arteries and resection of the internal jugular vein. The pathogen found was E. coli, supposedly from the bladder after surgical intervention due to polyposis. Conclusion: IA is a very rare entity and can have many etiologies. Since it can be fatal, it is necessary to keep IA in mind when diagnosing masses in relation to vessels of the neck. As shown in this case of a E. coli-induced IA, patients can present with atypical symptoms, on diagnostic imaging it can be mistaken for other pathology, and pathogenesis can be unclear.
A Case of Paediatric Anti-Glomerular Basement Membrane Disease Associated with Thrombotic Thrombocytopenic Purpura
Authors: Joseph McAllister, Pradeep Nagisetty, Kay Tyerman
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

Anti-GBM disease is a rare vasculitis that causes rapid progressive glomerulonephritis and pulmonary haemorrhage. It is usually an adult diagnosis with isolated paediatric cases reported. Thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy mainly affecting adults that causes multiorgan ischaemia, microangiopathic haemolytic anaemia, and thrombocytopenia. We present the first paediatric case of concurrent anti-GBM disease and TTP. A 14-year-old boy presented with acute kidney failure and severe pulmonary haemorrhage due to anti-GBM disease, confirmed on auto-antibody testing. There was thrombocytopenia and moderately low ADAMTS13 activity suggestive of TTP. The renal prognosis was poor with a need for dialysis. He was severely unwell with pulmonary haemorrhages requiring the use of extracorporeal membrane oxygenation (ECMO). His disease was treated with corticosteroids, plasma exchange (PEX), rituximab, and cyclophosphamide, resulting in remission. Anti-GBM disease is rare in children but should be considered in those presenting with acute kidney injury, particularly where there has been exposure to pulmonary irritants. An aggressive presentation warrants aggressive treatment with methylprednisolone, PEX, and cyclophosphamide. Rituximab may benefit patients that have concurrent TTP. TTP may exacerbate pulmonary disease, but complete respiratory recovery is possible. Disease relapse is rare in the paediatric age group, and these patients are candidates for kidney transplantation.
Maxillary first molars with six canals diagnosed with the aid of cone beam computed tomography: a report of two cases
Authors: Mamta Kaushik, Neha Mehra
Journal: Case Rep Dent (2013)

The case reports present the endodontic management of two maxillary first molars with six canals. The diagnosis of morphology of multiple canal systems was identified under magnification of the dental operating microscope and was confirmed with the help of cone beam computed tomography. This paper discusses the variations in the canal morphology and the use of the latest adjuncts in successfully diagnosing and treating unusual canal anatomy.