OpenMed/multicare-articles huggingface dataset:
Enhancing Literacy and Communicative Skills of Students With Disabilities in Special Schools Through Dialogic Literary Gatherings
Authors: Aitana Fernández-Villardón, Rosa Valls-Carol, Patricia Melgar Alcantud, Itxaso Tellado
Journal: Front Psychol (2021)
Keywords: communicative skills, dialogic literary gatherings, dialogic reading, literacy, special schools, students with disabilities

Enhancing the quality of learning opportunities for students with disabilities and the learning level attained is a pending challenge. This challenge is especially relevant in the context of special schools, where the learning possibilities derived from interactions with others is limited. However, providing these students with a sufficient level of instrumental learning, such as literacy, and communicative and reasoning abilities is crucial for their subsequent educational and social opportunities. In this case study we analyse a special school that has implemented Dialogic Literary Gatherings with their students as a means to increase learning interactions within the group around the reading and debate of classical books. Semi-structured interviews were conducted with the school principal and with a teacher of the transition to adult life course, and two focus groups were conducted with teachers-one with primary education teachers and one with secondary education teachers-and two focus groups with students-one with primary education students and one secondary education and transition to adult life students-. On the one hand, results show the characteristics of the Dialogic Literary Gatherings that allowed these students to participate and learn. On the other hand, several improvements have been observed. First, regarding instrumental learning, students increased their motivation for reading, and improved their communicative and reasoning abilities and in their reading proficiency. Second, regarding students' behavior, conflict has reduced, solidarity attitudes have increased, and they have acquired dialogic and argumentative habits. Finally, at the emotional level, they gained self-esteem and confidence and feel more empowered to make their voice heard.
Acute Q fever in an Omani presenting with a febrile movement disorder - A Case Report
Authors: Zoheb Jaffer Hussein, Abdul Salam Al Jalboubi, Ibrahim Al Busaidi
Journal: IDCases (2023)
Keywords: coxiella burnetii, hemifacial spasm, movement disorder mimic, neurological manifestations of q fever, q fever
MeSH terms: Case Reports

Q fever is a zoonotic infection caused by the organism Coxiella burnetii. It is transmitted by contracting the organism from it is most known reservoirs which include cattle, sheep, and goats. It is an endemic disease with very few cases reported in the Arabian Peninsula. It can present with a wide range of clinical presentations; however, the neurological manifestation of Q fever is rare and overlooked hence we present a case report of a 38-year-old man who presented with fever, headache, and jerky movements. He had a significant exposure to livestock animals mainly goats and sheep. The work up was negative apart from positive Coxiella burnetii serology and serum PCR suggestive of acute Q fever. He had shown remarkable improvement after a course of antimicrobial therapy with complete resolution of fever and neurological symptoms. Our case report highlights the importance considering Q fever as a cause of unusual neurological symptoms in Q fever endemic areas and patients with a significant zoonotic exposure.
Combined Vascular and Orthopaedic Approach for a Pseudotumor Causing Deep Vein Thrombosis after Metal-on-Metal Hip Resurfacing Arthroplasty
Authors: Hossam Abdel-Hamid, Jonathan Miles, Richard W J Carrington, Alister Hart, Alex Loh, John A Skinner
Journal: Case Rep Orthop (2015)

Introduction. Metal-on-metal (MoM) hip resurfacings have been associated with a variety of complications resulting from adverse reaction to metal debris. Pseudotumors have rarely been reported to cause deep venous thrombosis (DVT). Study Design. A case report and a review of the literature. Case Presentation. A 75-year-old female who had left metal-on-metal hip resurfacing 6 years ago presented with left groin pain associated with unilateral lower limb edema and swelling. By duplex and MRI studies, our patient had an extensive soft tissue necrosis associated with a large pelvic mass causing extensive DVT of the lower limb secondary to mechanical compression of the left iliac vein. Results. Our case was initially treated for DVT followed by dual surgical approach. The pseudotumor was excised through a separate iliofemoral approach and revision of the hip implant was undertaken through a posterior approach in the same setting. An inferior vena cava (IVC) filter was inserted to minimise the perioperative risks of handling the iliac veins. Conclusion. A combined approach with vascular surgeons is required. Combined resection of the pseudotumor and revision of the metal bearing surfaces is essential, in order to achieve a good surgical outcome in this rare complication.
A Foley Fallacy: A Case of Bladder Rupture after "Routine" Foley Catheter Placement
Authors: Shiva Poola, Arjun Mohan
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Bladder injury is a rare condition mostly due to high-energy trauma. Bladder injury tends to be suspected during traumatic events in the setting of hematuria, pain, and voiding difficulty. Unfortunately, in end-stage renal disease patients who are oliguric or anuric these classic clinical findings would not be seen. We report a case of bladder rupture without a history of trauma or without a history of hematuria or voiding difficulties. To our knowledge this is the first case to describe such an injury with a lack of trauma history.
Internet Gaming Disorder in Adolescents With Psychiatric Disorder: Two Case Reports Using a Developmental Framework
Authors: Xavier Benarous, Pierre Morales, Hanna Mayer, Cosmin Iancu, Yves Edel, David Cohen
Journal: Front Psychiatry (2019)
Keywords: internet gaming disorder, adolescents, behavioral addiction, emotional dysregulation, externalizing disorders, gaming misuse, insecure attachment, internalizing disorders
MeSH terms: Case Reports

Internet gaming disorder (IGD) has been a controversial entity with various opinions about its clinical relevance as an independent mental disorder. This debate has also included discussions about the relationships between problematic gaming, various psychiatric disorders, and personality traits and dimensions. This paper outlines a developmental-theory based model of Internet gaming misuse inspired by the treatment of two adolescent inpatients. The two clinical vignettes illustrate distinct developmental pathways: an "internalized pathway" via the development of social anxiety, emotional and behavioral avoidance; and an "externalized pathway" with a low level of emotional regulation strategies and impulsivity. In both clinical cases, attachment issues played a key role to understand the specific associations of risk and maintaining factors for IGD, and gaming behaviors may be seen as specific forms of maladaptive self-regulatory strategies for these two youths. These clinical observations support the assumption that gaming use problematic in adolescents should be viewed with a developmental approach, including key aspects of emotional development that represent significant targets for therapeutic interventions.
Bilateral Traumatic Facial Paralysis with Hearing Impairment and Abducens Palsy
Authors: Imane Ouhbi, Taoufik Abdellaoui, Noureddine Errami, Fouad Benariba
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

The temporal bone is often affected in basilar skull fractures. Fractures involving the petrous portion are particularly significant, as they may be associated with neurovascular sequelae. Bilateral facial paralysis secondary to bilateral temporal bone fracture is a rare clinical entity, even more so when associated with other cranial nerve damage such as abducens nerve paralysis and hearing impairment. Only 4 similar cases have been reported in the literature to date. In this paper, we describe a 28-year-old male patient with bilateral facial paralysis, unilateral abducens palsy, and bilateral hearing loss due to bitemporal fractures that developed after a motor vehicle accident. Conservative management was preferred. The 6-month follow-up showed remarkable improvement. This report highlights the effectiveness of conservative management in posttraumatic complete facial and abducens palsy.
Case Report: A Novel Non-Reciprocal ALK Fusion: ALK-GCA and EML4-ALK Were Identified in Lung Adenocarcinoma, Which May Respond to Alectinib Adjuvant-Targeted Therapy
Authors: Xiaoqian Zhai, Qiang Wu, Dan Pu, Liyuan Yin, Weiya Wang, Daxing Zhu, Feng Xu
Journal: Front Oncol (2022)
Keywords: alk fusion, alk-gca and eml4-alk, adjuvant targeted therapy, alectinib, stage iiib-n2 nsclc
MeSH terms: Case Reports

Anaplastic lymphoma kinase (ALK)-positive non-small-cell lung cancers (NSCLCs) have favorable and impressive response to ALK tyrosine kinase inhibitors (TKIs). However, ALK rearrangement had approximately 90 distinct fusion partners. Patients with different ALK fusions might have distinct responses to different-generation ALK-TKIs. In this case report, we identified a novel non-reciprocal ALK fusion: ALK-grancalcin (GCA) (A19: intragenic) and EML4-ALK (E20: A20) by next-generation sequencing (NGS) in a male lung adenocarcinoma patient who was staged as IIIB-N2 after surgery. After a multidisciplinary discussion, the patient received alectinib adjuvant targeted therapy and postoperative radiotherapy (PORT). He is currently in good condition, and disease-free survival (DFS) has been 20 months so far, which has been longer than the median survival time of IIIB NSCLC patients. Our study extended the spectrum of ALK fusion partners in ALK + NSCLC, and we reported a new ALK fusion: ALK-GCA and EML4-ALK and its sensitivity to alectinib firstly in lung cancer. It is vital for clinicians to detect fusion mutations of patients and report timely the newfound fusions and their response to guide treatment.
A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
Authors: Guoqing Han, Li Ma, Huanhuan Qiao, Lin Han, Qiaoli Wu, Qingguo Li
Journal: Front Neurosci (2021)
Keywords: ccm2, chinese family, familial cerebral cavernous malformation, missense variant, susceptibility-weighted imaging

Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM. Approximately 476 mutations of three CCM-related genes have been reported, most of which were case reports, and lack of data in stable inheritance. In addition, only a small number of causative missense mutations had been identified in patients. Here, we reported that 8/20 members of a Chinese family were diagnosed with CCMs. By direct DNA sequencing, we found a novel variant c.331G > C (p.A111P) in exon 4 of the CCM2 gene, which was a heterozygous exonic variant, in 7/20 family members. We consider this variant to be causative of disease due to a weaken the protein-protein interaction between KRIT1 and CCM2. In addition, we also found the exon 13 deletion in KRIT1 coexisting with the CCM2 mutation in patient IV-2, and this was inherited from her father (patient III-1H). This study of a Chinese family with a large number of patients with CCMs and stable inheritance of a CCM2 mutation contributes to better understanding the spectrum of gene mutations in CCMs.
Giant desmoplastic small round cell tumor of the abdomen: A case report
Authors: Wuke Wang, Yunjie Chen, Chunnian Wang, Hui Su
Journal: Front Oncol (2022)
Keywords: dsrct, abdominopelvic tumor, case report, desmoplastic small round cell tumor, medium-elderly male
MeSH terms: Case Reports

Background:
Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, mesenchymal malignancy of a separate clinicopathological entity. It has a predilection for young men, with no evidence of any ethnic predilection. The current diagnostic gold standard for DSRCT includes histopathologic, immunohistochemical, and cytogenetic studies in order to confirm the variable phenotypic expression and characteristic chromosomal translocation.
Case summary:
A 65-year-old man presented with a sensation of an abdominal mass and a presentation of an incomplete bowel obstruction. Initial lab tests were in the normal range except for carbohydrate antigen. Contrast-enhanced CT showed that a large, mass-confounding density was occupied in the omentum majus area of the middle and lower abdominal wall. A 3D reconstruction of the images was performed to clarify the relationship between the tumor and the colon and was confirmed by a colonoscopy. After surgery, immunohistochemistry and fluorescence in situ hybridization (FISH) revealed EWSR1-WT1 gene rearrangement at 22q12, confirming the diagnosis of desmoplastic small round cell tumor.
Conclusion:
Being different from the predilection of DSRCT for young men, the patient in our case is a 65-year-old man with a huge mass involving the transverse colon and the bladder.
Anatomical outcome of vitreoretinal surgery using temporary keratoprosthesis and replacement of the trephined corneal button for severe open globe injuries: one-year result
Authors: Hui-Jin Chen, Chang-Guan Wang, Hong-Liang Dou, Xue-Feng Feng, Kang Feng, Yun-Tao Hu, Yi-Min Xu, Zhi-Zhong Ma
Journal: J Ophthalmol (2014)

In this case series of 74 patients with coexisting vitreoretinal injury and severe corneal opacification, after temporary keratoprosthesis (TKP) assisted pars plana vitrectomy (PPV), an allograft corneal transplant was not performed at the same time; instead, the patient's trephined corneal button was sutured back. One year after the surgery, if intraocular pressure of the injured eyes was above 8 mmHg, removing silicone oil was attempted, and penetrating keratoplasty could be performed. Finally, 10 eyes (13.5%) were enucleated due to atrophia bulbi; 46 eyes (62.2%) were silicone-oil sustained; 15 eyes (20.3%) were anatomically restored; and 3 eyes (4.0%) experienced recurrent retinal detachment. These figures only demonstrate a small percentage of the injured eyes in our series, which have PKP indications. It is a practical option to suture back the patient's trephined cornea following a TKP assisted PPV; keratoplasty was reserved for selected cases.
Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children: Case Reports and Literature Review
Authors: Gengyin Guo, Jianfeng Zhuang, Keke Zhang, Zhizhen Zhou, Yanjun Wang, Zhen Zhang
Journal: Front Surg (2022)
Keywords: adjuvant therapy, atypical teratoid/rhabdoid tumor, integrase interactor 1, molecular subgrouping, pediatric brain tumors
MeSH terms: Case Reports

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant tumor that mainly occurs in children under the age of 3 and has only been rarely described in adults. The fact that AT/RT patients have such a terrible prognosis is even more regrettable. Herein, we reported two special cases of AT/RT, both of which were under 3 years. Symptoms at presentation included increased intracranial pressure and cerebellar symptoms such as headache, altered gait, and ataxia. As for the tumor location, one was infratentorial in the posterior fossa, and the other was the right lateral ventricle. Preoperative magnetic resonance imaging scans showed calcification and heterogeneous contrast enhancement in the lesions. The mass was excised surgically for the progression of symptoms. Postoperative pathologies of the tumors, combined with immunohistochemistry, revealed AT/RT. AT/RTs are often misdiagnosed as other types of brain tumors due to the lack of specific radiological features and other key characteristics. To improve awareness of AT/RT on the differential diagnosis of intracranial lesions among clinicians, we present this report and briefly summarize previous cases.
Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin-Johnson syndrome
Authors: Chenyu Zhao, Xiaoliu Shi, Yonghong Zhang, Hui Huang
Journal: Front Genet (2022)
Keywords: abcc2, dubin–johnson syndrome, hyperbilirubinemia, multidrug resistance-associated protein 2, mutation
MeSH terms: Case Reports

Background: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease which is caused by mutations in the ABCC2 gene; it is characterized by chronic hyperbilirubinemia. Here, we report two pedigrees affected with DJS which were caused by three novel pathogenic ABCC2 mutations. Case summary: The two patients exhibited intermittent low-grade, predominantly conjugated hyperbilirubinemia and showed no other abnormalities. They were diagnosed clinically with DJS. Three novel pathogenic ABCC2 mutations-c.2980delA, c.1834C>T, and c.4465_4473delinsGGCCCACAG-were identified by whole-exome sequencing. These mutations could be responsible for DJS in the two pedigrees. The genetic test confirmed the diagnosis of DJS. Conclusion: These results contributed to the genetic diagnosis of the two patients with DJS and expanded the variant database for the ABCC2 gene.
Effects of sequential inhibitory and facilitatory repetitive transcranial magnetic stimulation on neurological and functional recovery of a patient with chronic stroke: A case report and literature review
Authors: Nan Chen, Xiao Qiu, Yan Hua, Jian Hu, Yulong Bai
Journal: Front Neurol (2023)
Keywords: case report, motor recovery, neuroplasticity, stroke, transcranial magnetic stimulation
MeSH terms: Case Reports

Background and purpose:
The effects of conventional protocols of repetitive transcranial magnetic stimulation (rTMS) in the chronic phase of stroke are limited. This study aimed to apply the sequential inhibitory and facilitatory rTMS for upper limb motor dysfunction post-stroke to observe the efficacy and explore the possible neurophysiological mechanism. We hypothesize that this protocol would both enhance the excitability of affected M1 and promote connections among motor areas.
Case description:
We reported a 55-year-old female patient with a 1-year chronic stroke and right-sided hemiplegia, who underwent the 14-session rTMS with seven sessions of low frequency (LF) and with seven sessions of high frequency (HF). Clinical scales mainly including Fugl-Meyer Assessment of Upper Extremity (FMA-UE), Action Research Arm Test (ARAT), neurophysiological measures, and functional near-infrared spectroscopy (fNIRS) were assessed before (T0), at the midpoint (T1), and after the intervention (T2).
Outcomes:
The patient exhibited post-intervention improvement in upper extremity function. There was increased excitability in the ipsilesional hemisphere and the opposite in the contralesional hemisphere. The interhemispheric inhibition (IHI) ratio increased from 2.70 to 10.81 and finally decreased to 1.34. Oxy-Hb signal was significantly decreased in affected M1 and mildly decreased in unaffected M1, while that of PMC and SMA on the affected side increased significantly.
Conclusion:
The sequential inhibitory and facilitatory rTMS significantly promoted motor recovery in the patient. Related mechanisms include upregulation of excitability in the ipsilesional hemisphere, return of interhemispheric balance, and neuroplasticity-induced cortical reorganization.
Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review
Authors: Wu Chean Lee, Tong Leng Tan, Ying Ho Chan
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Introduction:
Ochronosis arthropathy (OcA) is a rare condition which may be treated with total knee arthroplasty (TKA) at the end stage. The condition is often discovered only intraoperatively and the ideal choice of TKA is unknown.
Case presentation:
A 54-year-old male with worsening chronic bilateral mechanical knee pain had failed conservative therapy. Posterior stabilised (PS), cemented TKA and patella resurfacing was performed. Intraoperatively, collagenous structures such as the menisci and cartilage were noted to be black. Histological examination showed deposition of large amorphous brown material suggestive of ochronosis. He recovered well and underwent TKA of the contralateral knee the following year. At 2 years postindex TKA, his outcome scores improved and he was satisfied.
Discussion and conclusion:
With increasing TKA performed worldwide, a surgeon may eventually be surprised by the above findings once in their lifetime. However, OcA may be considered a likely diagnosis and it is safe to proceed with TKA. There is no particular TKA design that proved to be superior in our systematic review of 19 publications regarding TKA as all reported good outcomes. However, as the pathogenesis of OcA appears to be inflammatory in nature, we suggest using cemented PS TKA with resurfacing of the patella.
Histopathological changes in the human larynx following expanded polytetrafluroethylene (Gore-Tex(R)) implantation
Authors: K Rajkumar, Hs Khalil, M Elloy, E Sheffield, Dl Baldwin
Journal: BMC Ear Nose Throat Disord (2005)

BACKGROUND: Expanded polytetrafluroethelyne (e PTFE, Gore-Tex(R)) has been advocated as an implant material for medialization of the vocal fold. Animal studies involving rabbits and a porcine model have demonstrated host tolerance of the implant. There have been no reports describing the histological changes in a human laryngectomy specimen with a Gore-Tex implant. CASE PRESENTATION: The histological findings in a laryngectomy specimen of a patient previously implanted with e PTFE for medialization of a paralyzed vocal fold following excision of a vagal neurofibroma were studied.Histopathology revealed a mild foreign-body giant cell granulomatous reaction with some associated fibrosis. The granulomatous response was limited to the periphery of the Gore-Tex and although it closely followed the profile of the material it did not encroach into or significantly break up the material. There was no significant neutrophilic or lymphocytic inflammation. CONCLUSIONS: Our findings are consistent with the animal models confirming that Gore-Tex implantation does not result in a significant granulomatous reaction in the human larynx over a 13-month period. Moreover, there is no evidence of resorption or infection. Further, the lack of lymphocytes in association with the granulomas indicates that there is no significant immunological hypersensitivity. Histologically, the slight permeation by connective tissue is similar to that seen in Gore-Tex vascular and cardiac implants. The degree of the slight giant cell response appears to be dependent on the profile of the material; a sharp edge incited more of a response than a flat surface.
Misdiagnosis of abdominal aortic dissection: image findings with the Nellix endovascular aneurysm sealing system
Authors: Peter James de Souza, Alexander Rodway, Ajay Pankhania
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

The Nellix endovascular aneurysm sealing system is a relatively new aortic endoprosthesis designed to overcome the problems associated with traditional methods of endovascular aneurysm repair. We report a case in which a 65-year-old male with abdominal pain was mistakenly diagnosed with an acute aortic dissection 7 days postoperatively after Nellix stent insertion, on the basis of the CT angiography findings. This report highlights the typical radiological appearances of the Nellix stent.