OpenMed/multicare-articles huggingface dataset:
Intraosseous cavernous hemangioma of inferior turbinate: a rare case report
Authors: M N Akiner, M T Akturk, M Demirtas, E O Atmis
Journal: Case Rep Otolaryngol (2011)
MeSH terms: Case Reports

Objectives. To investigate hemangiomas in the differential diagnosis of the nasal cavity neoplasms, even though it is an extremely rare mesenchymal tumor of the nasal cavity, and the world literature was reviewed. Case Report. A 57-year-old woman applied to our department with a 5-year history of left-sided nasal obstruction without history of epistaxis, nasal packaging, or facial trauma. Anterior rhinoscopic examination revealed a mass originating from inferior turbinate that completely obstructs the left nasal cavity. Paranasal computed tomography (CT) showed that the bony mass originated from the anterior part of the left inferior turbinate. Surrounding tissues were normal, and there was not any erosion or destruction. Mass was excised by the endoscopic approach. Histological diagnosis was reported as osseous cavernous hemangioma. Conclusion. Hemangiomas are a rare cause of intranasal masses. Its unusual site and masked presentation makes the differential diagnosis difficult. When a bony hard, well-shaped mass was seen in the nasal cavity, the possibility of intraosseous hemangioma must be remembered.
Endovascular Graft Suprarenal Bare Metal Stent Separation After Endovascular Aneurysm Repair: Case Reports and Literature Review
Authors: Jeffrey M A van der Krogt, Anne C van Erp, Stefan P M Smorenburg, Martine C M Willems, Johanna H Nederhoed
Journal: EJVES Vasc Forum (2023)
Keywords: aortic aneurysm, device failure, endovascular aneurysm repair, stent graft, suprarenal fixation
MeSH terms: Review

Objective:
Suprarenal bare metal stent separation is a rare complication after endovascular aneurysm repair. In this report, two new cases of this type of device failure are presented and the literature is reviewed to identify similar cases and evaluate associated clinical characteristics.
Methods:
A literature search was conducted in March 2022 using PubMed, Embase, and The Cochrane Library, with MeSH terms including aortic aneurysm, stents, and device failure. Two authors independently selected studies eligible for inclusion.
Results:
Twelve patients with endovascular graft suprarenal bare metal stent separation were identified. Endovascular aneurysm repair (EVAR) devices were implanted between May 1996 and November 2017. Suprarenal bare metal stent separation was detected after a median duration of five years post-operatively.
Conclusion:
Endovascular graft suprarenal bare metal stent separation demands a high level of awareness. A better understanding of the involved failure mechanisms and associated risk factors is required to further optimise EVAR follow up protocols.
Conjunctival Involvement of T-Cell Lymphoma in a Patient with Mycosis Fungoides
Authors: Sultan S Aldrees, Pablo Zoroquiain, Sarah A Alghamdi, Patrick T Logan, Sonia Callejo, Miguel N Burnier Jr
Journal: Case Rep Ophthalmol Med (2016)

Background. Ocular involvement in mycosis fungoides (MF) cases occurs in one-third of patients with the eyelid being the most frequent site affected; however, conjunctival involvement is rarely reported. Herein, we report a rare case of conjunctival involvement of MF. Case Presentation. A 66-year-old man who was previously diagnosed with MF in 2010 and was treated presented in 2014 complaining of foreign body sensation and redness in both eyes. Slit lamp examination of both eyes showed erythematous conjunctival growth that extended circumferentially. Physical examination revealed erythematous skin lesions on different body parts. Conjunctival biopsy was performed and revealed a dense, highly polymorphic lymphocytic population. The immunophenotype demonstrated a neoplastic T-cell origin consistent with MF. A diagnosis of conjunctival involvement by MF was made. The conjunctiva was treated with radiotherapy resulting in tumor regression. There were no recurrences at the 6-month follow-up. Conclusion. T-cell lymphoma should be considered in patients with a history of MF presenting with conjunctival and skin lesions.
A Case of Severe and Refractory Membranous Nephropathy Associated to Mucous Membrane Pemphigoid
Authors: Eric Mereniuk, Laura Sabbah, Jean-Paul Makhzoum
Journal: Case Rep Nephrol (2021)
MeSH terms: Case Reports

Primary membranous nephropathy (MN) and mucous membrane pemphigoid (MMP) are two autoimmune conditions with well-defined diagnostic and treatment guidelines. MN has been linked to bullous pemphigoid (BP) in certain case reports, though little is known regarding the association of MN and other bullous diseases. The association of MN and MMP has rarely been described, and very little data exist regarding the treatment of this association. We report a case of severe refractory membranous nephropathy secondary to mucous membrane pemphigoid successfully treated with rituximab. A 35-year-old woman with known MMP was referred to our clinic for new-onset generalized edema and proteinuria. MN was confirmed on renal biopsy. Despite therapy with high-dose systemic glucocorticoids, combined with mycophenolate mofetil, and later azathioprine, nephrotic-range proteinuria persisted even at a daily dose of prednisone of 40 mg. The patient was then started on rituximab infusions, which induced remission of both mucous membrane pemphigoid and membranous glomerulonephritis. This suggests that MN can be secondary to MMP, and rituximab may be useful induce remission in cases that are refractory to standard therapy.
Non-motor Adverse Effects Avoided by Directional Stimulation in Parkinson's Disease: A Case Report
Authors: Fernando Alonso-Frech, Carla Fernandez-Garcia, Victor Gómez-Mayordomo, Mariana H G Monje, Celia Delgado-Suarez, Clara Villanueva-Iza, Maria Jose Catalan-Alonso
Journal: Front Neurol (2022)
Keywords: parkinson's disease, deep brain stimulation, local field potential (lfp), non-motor symptoms, subthalamic nucleus, tractography
MeSH terms: Case Reports

Introduction:
Deep brain stimulation (DBS) is widely used for treatment of advanced, medication-refractory Parkinson's disease (PD). However, a significant proportion of patients may suffer adverse effects; up to 10% will present one or more transient or permanent neurobehavioral events.
Patient and methods:
In our case study, a 44-year-old woman diagnosed with PD 6 years previously who was suffering from motor fluctuations, dyskinesia, and freezing of gait episodes was submitted for DBS and implanted with directional electrodes. Intraoperative local field potentials (LFPs) were recorded. After surgery, conventional monopolar revision was performed. Preoperative 3T MRI studies and postoperative 3D and X-ray data were integrated using the Guide DTI software application (Brainlab), and diffusion tensor imaging tractography traced from cortical areas to each subthalamic nucleus (STN) using Elements software (Brainlab).
Results:
We observed that left STN stimulation in the ring mode significantly improved motor symptoms, but the patient presented uncontrollable mirthful laughter. Stimulation was then switched to the directional mode; laughter remained when using the more posteromedial contact (3-C+) but not 2-C+ or 4-C+ at the same parameters. Interestingly, LFP recordings showed the highest beta-band activity over contacts 4 and 2, and very scarce beta power over contact 3. The orientation of the directional leads was selected based on the 3D postoperative X-rays. Associative fibers showed the shortest distance to contact number 3.
Conclusion:
Stimulation of the STN can affect motor and associative loops. The use of directional electrodes is a good option to avoid not only undesirable capsular or lemniscal effects, but also limbic/associative events. Oscillatory activity in the beta range that preferentially takes place over the somatomotor STN region and is closely related to motor improvement, provides a reliable guide for optimizing the DBS programming. The importance of the exact location of electrical stimulation to determine the non-motor symptoms such as mood, apathy, attention, and memory, as well as the usefulness of biological markers such as LFP for optimal programming, is discussed in relation to this case.
Intra-operative Ultrasound-guided Thrombectomy and Thrombolysis for Post-operative Portal Vein Thrombosis in Living Liver Donors
Authors: O Abdelaziz, K Hosny, O Elmalt, S Emad-Eldin, A Hosny
Journal: Int J Organ Transplant Med (2015)
Keywords: liver transplant, living donor, portal vein, postoperative complications, thrombectomy, thrombolytic therapy, venoplasty
MeSH terms: Case Reports

There are few reports of portal vein thrombosis among living donor liver transplant donors and no published data on the management of this event. In this report, we present our experience in the diagnosis and management of this rare complication in two living donor liver transplantation donors who developed post-operative portal vein thrombosis. Both cases were successfully managed with intra-operative ultrasound-guided thrombectomy, vein patch venoplasty, and catheter-directed thrombolysis. The two donors are symptom-free two years after the event.
Laparoscopic Removal of Angelchik Prosthesis Followed by Interval Sleeve Gastrectomy
Authors: Faryal G Afridi, Morgan Johnson, Kelsey A Musgrove, Salim Abunnaja, Lawrence E Tabone, David C Borgstrom, Nova Szoka
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
The Angelchik prosthesis (AP) is a historic antireflux device which consists of a C-shaped silicone ring placed around the gastroesophageal junction (GEJ) and secured by Dacron tape. We present a rare experience with an AP and its impact on bariatric surgical outcomes.
Case:
Our patient is a 66-year-old woman who had an open antireflux procedure with an AP in 1987. She presented to a bariatric clinic for consideration of bariatric surgery for the treatment of morbid obesity and associated comorbidities. She also reported significant problems with reflux and dysphagia. After an appropriate work-up, an AP was identified at her GEJ. She was taken to the operating room for laparoscopic removal with planned interval laparoscopic sleeve gastrectomy. Intraoperatively, the AP was identified around the GEJ; after extensive adhesiolysis, the prosthesis was removed. Postoperatively, in order to determine if the AP had caused any lasting esophageal motility problems, the patient underwent a high-resolution esophageal manometry which demonstrated normal esophageal motility. Interval laparoscopic sleeve gastrectomy was performed safely 9 weeks later.
Conclusion:
Although rarely used, it is still possible to encounter an Angelchik prosthesis in practice. General and bariatric surgeons need to be aware of this rare device and understand how to manage its related complications.
Clinical and Molecular Differentiation Between Malignant Rhabdoid Tumor of the Kidney and Normal Tissue: A Two-Case Report
Authors: Chenghao Zhanghuang, Shuo Chen, Li Li, Zhen Yang, Yucheng Xie, Jiwei Li, Haoyu Tang, Xiaoli He, Liuyi Dong, Bing Yan
Journal: Front Oncol (2021)
Keywords: biosystems, go, kegg, rna-sequencing, child preschool, malignant rhabdoid tumor of kidney

Background:
Malignant rhabdoid tumor of the kidney (MRTK) is a rare type of tumor that lacks typical clinical manifestations. Herein, we presented clinical data of 2 children with MRTK. In addition, we used a high-throughput RNA-sequencing (RNA-seq), GO analysis, and KEGG signaling pathway analysis to examine gene expression differences at the transcripts level between 2 patients with MRTK and 3 patients with non-tumor diseases without other symptoms.
Case report:
Preoperative B-scan ultrasonography and computed tomography (CT) examination in 2 cases suggested nephroblastoma. Both patients were treated with radical nephrectomy. After the operation, MRTK was confirmed by pathological examination. Child 1 and Child 2 then received 7 courses and 12 courses of regular chemotherapy, respectively. Child 1 was followed up for 2 years, and Child 2 for 3.1 years without showing symptoms. RNA-seq results showed 2203 differential genes (DEGs) in the kidney tissue of children with MRTK compared to normal tissue (p <0.01). GO analysis suggested that most DEGs participate in protein binding. KEGG results showed that the DEGs were mainly involved in the PI3K-Akt signaling pathway and microRNA-related proteins.
Conclusion:
The PI3K-Akt signaling pathway and microRNA-related proteins as targets have extremely high potential value for the diagnosis and treatment of MRTK.
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases
Authors: Harsh Sheth, Jhanvi Shah, Aadhira Nair, Premal Naik, Jayesh Sheth
Journal: Front Genet (2021)
Keywords: ccn6, gujarat, patni, progressive pseudorheumatoid dysplasia, recurrent variant
MeSH terms: Case Reports

Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder-progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnormal posture, and absence of inflammation, resulting in significant morbidity. The largest case series of PPD from India suggests c.233G>A and c.1010G>A to be the most common mutations in the CCN6 gene, although the distribution of these variants among endogamous communities in India has not been carried out. We here report three cases of PPD from three independent families belonging to the Patni community of Gujarat, a community known to practice endogamy. All three cases had short stature, gait disturbance, scoliosis, and interphalangeal joint deformities. Analysis by whole-exome sequencing in the first case showed the presence of a previously known, homozygous, missense variant c.298T>A (p.Cys100Ser) in exon 3 of the CCN6 gene in all cases. Due to all three families belonging to the same community, analysis by Sanger sequencing in the remaining two cases for the variant mentioned earlier showed both cases to be of homozygous mutant genotype. Unaffected family members, i.e., parents and siblings, were either heterozygous carriers or wildtype for the said variant. The present case series is the first report of a recurrent variant occurring across multiple PPD-affected individuals from unrelated families belonging to the same community from India.
Hernia with spermatocele, cord and testis inside sac: Case report
Authors: Imtiaz Wani
Journal: Int J Surg Case Rep (2018)
Keywords: cord, hernia, spermatocele, testis

Introduction:
Giant spermatocele,testis and spermatic cord as content of sac in an indirect hernia is extremely rare. These are congenital in.nature.
Case report:
A 61 year old male was diagnosed as a case of giant spermatocele.Exploration documented giant spermatocele and an indirect inguinal hernia of complete type with the testicle, cord and spermatocele as a content of herrnia sac Excision of spermatocele with placement of cord outside sac was done.This is a first kind of case report with new type of hernia reported with cord as content.
Conclusion:
Giant spermatocele is to be excised.Testis and spermatic cord inside hernia sac have to be made extrasacal to prevent recurrence.
Penile reconstruction for a case of genital lymphoedema secondary to proteus syndrome
Authors: F Ashouri, J Manners, R Rees
Journal: ISRN Urol (2011)
MeSH terms: Case Reports

To our knowledge penile lymphoedema secondary to Proteus syndrome has not previously been reported. Hence we report a case of a 16-year-old male who was referred with features of right hemi-hypertrophy and severe lymphoedema affecting his scrotum and penis. He had previously undergone scrotal reduction surgery at the age of 13, but had since developed worsening penile oedema. His main concern was that of cosmetic appearance prior to sexual debut, and he also complained of erectile dysfunction. An MRI confirmed gross oedema of the penile skin, but normal underlying cavernosal structure, and no other anatomical abnormality. Under general anaesthesia, the entire diseased penile skin was excised. Two full thickness skin grafts were harvested from the axillae, and grafted onto the dorsal and ventral penile shaft respectively. A compressive dressing and urinary catheter was applied for 7 days. Follow-up at 4 months confirmed complete graft take with minimal scarring, and the patient was very satisfied with the cosmetic outcome. He had also noticed a recovery in erectile activity, and feels psychologically and physically more prepared for sexual relations.
Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
Authors: Mariarita Sciumè, Giusy Ceparano, Cristina Eller-Vainicher, Sonia Fabris, Silvia Lonati, Giorgio Alberto Croci, Luca Baldini, Federica Irene Grifoni
Journal: Front Oncol (2021)
Keywords: kit d816v mutation, clonal evolution, imatinib, myeloid neoplasm with pdgfra rearrangement, systemic mastocytosis
MeSH terms: Case Reports

Systemic mastocytosis (SM) is a rare neoplasm resulting from extracutaneous infiltration of clonal mast cells (MC). The clinical features of SM are very heterogenous and treatment should be highly individualized. Up to 40% of all SM cases can be associated with another hematological neoplasm, most frequently myeloproliferative neoplasms. Here, we present a patient with indolent SM who subsequently developed a myeloid neoplasm with PDGFRA rearrangement with complete response to low-dose imatinib. The 63-year-old patient presented with eosinophilia and elevated serum tryptase level. Bone marrow analysis revealed aberrant MCs in aggregates co-expressing CD2/CD25 and KIT D816V mutation (0.01%), and the FIP1L1-PDGFRA fusion gene was not identified. In the absence of 'B' and 'C' findings, we diagnosed an indolent form of SM. For 2 years after the diagnosis, the absolute eosinophil count progressively increased. Bone marrow evaluation showed myeloid hyperplasia and the FIP1L1-PDGFRA fusion gene was detected. Thus, the diagnosis of myeloid neoplasm with PDGFRA rearrangement was established. The patient was treated with imatinib 100 mg daily and rapidly obtained a complete molecular remission. The clinical, biological, and therapeutic aspects of SM might be challenging, especially when another associated hematological disease is diagnosed. Little is known about the underlying molecular and immunological mechanisms that can promote one entity prevailing over the other one. Currently, the preferred concept of SM pathogenesis is a multimutated neoplasm in which KIT mutations represent a "phenotype modifier" toward SM. Our patient showed an evolution from KIT mutated indolent SM to a myeloid neoplasm with PDGFRA rearrangement; when the eosinophilic component expanded, a regression of the MC counterpart was observed. In conclusion, extensive clinical monitoring associated with molecular testing is essential to better define these rare diseases and consequently their prognosis and treatment.
An Unusual Presentation of T-Cell Lymphoblastic Lymphoma with Isolated Renal Involvement
Authors: Sultan Aydın Köker, Alper Koker, Adem Yasin Köksoy, Yasemin Kayadibi, Ülkü Gül Şiraz, Emine Tekin
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

The clinical presentation of Non-Hodgkin lymphoma (NHL) is frequently associated with the involvement of the abdomen and mediastinal lymphadenopathies, but rarely the kidney, ovaries, and testicles. Here, we report a rare case of T-cell lymphoblastic lymphoma (T-LBL) presenting with bilateral nephromegaly without acute renal failure (ARF) as the first manifestation. A 30-month-old boy was admitted to the department of pediatric nephrology exhibiting abdominal distension. Physical examination revealed bilateral renal palpation up to the inguinal region. Elevated lactate dehydrogenase (LDH) levels were detected in his blood. Bilateral diffuse enlarged kidneys with increased hypoechogenicity were found on abdominal ultrasonography. In the next step, contrast-enhanced computed tomography showed diffusely enlarged kidneys, which were compressing the intestinal bowels and midline structures. Renal biopsy demonstrated precursor T-LBL. We wish to report our patient with renal T-LBL presenting with diffuse renal enlargement, which has rarely been reported in the literature.
Case Report: Indocyanine Green-Based Angiography for Real-Time Assessment of Superficial Brachialis Axial Pattern Flap Vascularization in Two Dogs
Authors: David Michalik, Mirja Christine Nolff
Journal: Front Vet Sci (2022)
Keywords: icg, indocyanine green, nira, axial pattern flaps, near infrared angiography, skin reconstruction, superficial brachial
MeSH terms: Case Reports

This case report describes the method and feasibility of near-infrared angiography (NIRA) to improve the surgical procedure of two superficial brachial axial pattern flaps intraoperatively using two camera systems. Two client-owned dogs were treated for tumors on their antebrachia with wide surgical excision. The defects were closed with a superficial brachial flap in both cases. A different NIRA camera system was used for each case to identify the perforator vessel and flap margins accordingly. Case 1 developed a seroma and healed without further complications. Case 2 developed partial flap necrosis, underwent revision surgery, and healed by secondary intent. NIRA proved useful intraoperatively in identifying the perforator vessel and determining flap margins. As these are only two cases, caution should be used in extrapolating the results.
Magnetic Resonance Imaging and Histopathologic Findings From a Standard Poodle With Neonatal Encephalopathy With Seizures
Authors: Yoshihiko Yu, Daisuke Hasegawa, James K Chambers, Kazuhiro Kojima, Rikako Asada, Gary S Johnson, Kazuyuki Uchida
Journal: Front Vet Sci (2020)
Keywords: atf2, eeg, mri, activating transcription factor 2, canine, dog, epilepsy
MeSH terms: Case Reports

Neonatal encephalopathy with seizures (NEwS) is an epileptic encephalopathy with an autosomal recessive inheritance pattern found in Standard Poodle puppies. The causal genetic variant for NEwS has been identified as a homozygous missense mutation in ATF2 (c.152T>G, p.Met51Arg), and a pathological cerebellar change has been reported. Magnetic resonance imaging showed reduced whole-brain size, dilated ventricles, developmental abnormalities of the white matter of the cerebrum, white matter signal abnormalities in the occipital lobe, and abnormal morphology of the cerebellum. Histopathology included previously unrecognized irregular neuronal migration in the subventricular zone around the lateral ventricles in the frontal lobe and white matter rarefaction especially at the level of the occipital lobe in the cerebrum in addition to the cerebellar cortical dysplasia that has been previously described. The findings of this case may highlight the critical role of ATF2 in neurodevelopmental processes in the canine brain.