OpenMed/multicare-articles huggingface dataset:
Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
Authors: Patricia Guevara-Ramírez, Santiago Cadena-Ullauri, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Rafael Tamayo-Trujillo, Viviana A Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano
Journal: Front Cardiovasc Med (2023)
Keywords: lmna, ngs, cardiovascular disease, genome, precision medicine
MeSH terms: Case Reports

Introduction:
Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes. In Ecuador, cardiovascular diseases were the primary cause of death in 2019, accounting for 26.5% of total deaths. Cardiac laminopathy-associated mutations involve genes coding for structural proteins with functions related to heart development and physiology.
Family description:
Two Ecuadorian siblings, self-identified as mestizos, were diagnosed with cardiac laminopathies and suffered embolic strokes. Moreover, by performing Next-Generation Sequencing, a pathogenic variant (NM_170707.3:c.1526del) was found in the gene LMNA.
Discussion and conclusion:
Currently, genetic tests are an essential step for disease genetic counseling, including cardiovascular disease diagnosis. Identification of a genetic cause that may explain the risk of cardiac laminopathies in a family can help the post-test counseling and recommendations from the cardiologist. In the present report, a pathogenic variant ((NM_170707.3:c.1526del) has been identified in two Ecuadorian siblings with cardiac laminopathies. The LMNA gene codes for A-type laminar proteins that are associated with gene transcription regulation. Mutations in the LMNA gene cause laminopathies, disorders with diverse phenotypic manifestations. Moreover, understanding the molecular biology of the disease-causing mutations is essential in deciding the correct type of treatment.
A case of chronic granulomatous disease with a necrotic mass in the bronchus: a case report and a review of literature
Authors: Ali Cheraghvandi, Majid Marjani, Saeid Fallah Tafti, Logman Cheraghvandi, Davoud Mansouri
Journal: Case Rep Pulmonol (2012)

Chronic granulomatous disease is a rare phagocytic disorder with recurrent, severe bacterial and fungal infections. We describe an unusual case of chronic granulomatous disease manifesting as an invasive pulmonary aspergillosis with an obstructive necrotic mass at the right middle bronchus. The patient was successfully treated with a bronchoscopic intervention for the removal of the obstructive mass and a medical therapy.
Rhabdomyosarcoma-Induced Uterine Inversion
Authors: Kin Li, Gavin Davis, Colleen Wittenberg, Alireza Abidi
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Nonpuerperal uterine inversion is a rare clinical condition that involves prolapse of the uterine fundus into the uterine cavity and vaginal vault and possibly passed the introitus. The majority of these cases commonly involve benign tumors such as leiomyoma. However, another common cause of nonpuerperal uterine inversion is due to malignancies such as sarcomas. Rhabdomyosarcoma is a rare and aggressive malignancy of soft tissue cells that are common in children and rare in adults. One subtype called embryonal rhabdomyosarcoma is exceptionally rare. Therefore, report of embryonal rhabdomyosarcoma-induced uterine inversion is an exceedingly scarce and rarely documented clinical condition. In this case report, we present a rare case of a nulliparous 27-year-old female who presented with embryonal rhabdomyosarcoma-induced uterine inversion.
Angio-Seal™ Embolization: A Rare Etiology of an Acute Distal Limb Ischemia
Authors: Glenmore Lasam, Joshua Brad Oaks, Jeffrey Brensilver
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

We herein report a serious vascular complication of diagnostic cardiac catheterization due to an embolization of an Angio-Seal closure device causing acute lower limb ischemia. The Angio-Seal was deployed via the right femoral artery following the catheterization which embolized several hours later to the right popliteal artery. Fogarty embolectomy restored perfusion to the right lower limb; however, compartment syndrome subsequently developed which required evacuation of a hematoma and repair of right popliteal artery.
Treatment of Arachnoid Cyst With Spontaneous Hemorrhage With Atorvastatin
Authors: Bei Liu, Chao Wang, Yan Qu
Journal: Front Pharmacol (2019)
Keywords: arachnoid cyst, atorvastatin, children, neurosurgery, subdural hematoma
MeSH terms: Case Reports

As one of the common neurological diseases, pediatric middle fossa arachnoid cysts(MFACs) can develop intracystic hemorrhage and subdural hematoma. Risk factors for pediatric arachnoid cyst rupture/hemorrhage is very complicated in mechanism. Although surgery is the first choice for children with MFACs and subdural hematoma, the rate of recurrence of the subdural hematoma is very high after 1 or more surgeries. Atorvastatin has proven to be a bold and safe choice in the management of subdural hematoma with mild symptoms. The present study has described a 7-year-old child with a recurrent rupture of arachnoid cyst develops into a subdural hematoma. We demonstrate that atorvastatin is safe and effective in pediatric patient who has failed surgical treatment of middle fossa arachnoid cyst and subdural hematoma. The patient received atorvastatin monotherapy, once daily for the first week, with an initial dose of 5 mg, followed by 10 mg once daily for 7 weeks. In the third month after the initial treatment, the neurological function recovered, and the hematoma completely resolved. This case report supports the concept that atorvastatin can promote the absorption of subdural hematoma.
Amyloid A amyloidosis with subcutaneous drug abuse
Authors: Jair Munoz Mendoza, Vasil Peev, Mario A Ponce, David B Thomas, Ali Nayer
Journal: J Renal Inj Prev (2013)
Keywords: aa amyloidosis, proteinuria, renal failure, subcutaneous drug abuse, suppurative skin infections
MeSH terms: Case Reports

Introduction:
Amyloid A (AA) amyloidosis is a systemic form of amyloidosis secondary to chronic infections and inflammatory disorders. An acute-phase protein produced by the liver, serum amyloid A (SAA) is the precursor of AA amyloid fibrils. AA amyloid deposition occurs predominantly in the kidneys, spleen, adrenal glands, liver and gastrointestinal tract. The manifestations of AA amyloidosis involving the kidneys include proteinuria, tubular dysfunction and progressive loss of renal function.
Case:
We report a 47-year-old drug addict who developed AA amyloidosis as a result of recurrent suppurative skin infections secondary to subcutaneous drug injection. Elevated C-reactive protein concentrations attested to the presence of a chronic systemic inflammatory state. He suffered from the nephrotic syndrome and insidious loss of renal function. Isosthenuria and glycosuria were indicative of renal tubular dysfunction. Renal biopsy demonstrated AA amyloidosis involving the glomeruli, tubular basement membranes and blood vessel walls.
Conclusion:
Superimposed acute tubular necrosis due to concomitant endocarditis and cocaine use accelerated his renal disease. CASE presentation is followed by a brief discussion of clinical features, natural history and outcome of AA amyloidosis with a particular emphasis on AA amyloidosis as a complication of subcutaneous drug abuse.
Case report: A rare case of recurrent right atrial mass dramatically disappeared after anticoagulation
Authors: Huarui Wang, Jie Zi, Qiao Li, Yuanyuan Sun, Ling Zhu
Journal: Front Cardiovasc Med (2022)
Keywords: anticoagulation, pulmonary embolism, right atrial mass, thrombomodulin, thrombophilia
MeSH terms: Case Reports

A young man repeatedly found a right atrial mass with severe wheezing and extreme dyspnea. His condition was critical and complicated. The process of correct diagnosis was full of twists and turns. Finally, he got better and was discharged from the hospital after anticoagulation therapy, which suggested that correct clinical thinking and decision are particularly important in the process of diagnosis and treatment.
Robot-Assisted Laparoscopic Nephroureterectomy for Transitional Cell Carcinoma of a Right Pelvic Kidney
Authors: Michael E Rezaee, Zubin Shetty, David Pridmore, Chirag N Dave, Sugandh D Shetty
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Nephroureterectomy is the standard of care for transitional cell carcinoma (TCC) involving the upper urinary tract. However, few published case reports exist describing the surgical treatment of ectopic kidneys with TCC. Surgical removal of a pelvic kidney can be complicated by aberrant vasculature supply, a tortuous ureter and abutting anatomical structures. Thus, it is necessary to determine the most appropriate surgical technique for treatment of pelvic kidneys with suspected malignancy.
Case presentation:
A 65-year-old female who presented with hematuria and lower abdominal pain was found to have a right pelvic kidney with a heterogeneous mass on computed tomography (CT) urogram. A robot-assisted laparoscopic nephroureterectomy of the right pelvic kidney was performed. Histopathological analysis revealed high-grade TCC with microscopic extension through the muscularis propria of the renal pelvis and superficially into the renal parenchyma.
Conclusion:
This case demonstrates the successful use of robot-assisted laparoscopic nephroureterectomy in the treatment of a pelvic kidney with TCC. Preoperative CT angiography is critical to define vascular anatomy and to prevent significant blood loss and damage to surrounding structures during surgery. This case was presented because TCC of a pelvic kidney is a rare occurrence and the use of robot-assisted nephroureterectomy for treatment of this disease is novel.
Design and process optimization of combined medical and elderly care services: An integrated service blueprint-TRIZ model
Authors: An-Jin Shie, Wei-Feng Wu, Ming Yang, Xiaoji Wan, Hailin Li
Journal: Front Public Health (2022)
Keywords: fuzzy-fmea, combined medical and elderly care, service blueprint (sb), service innovation, theory of inventive problem solving (triz)
MeSH terms: Problem Solving, Research Support, Non-U.S. Gov't, Aged, Health Services for the Aged, Humans

China's increasingly aging population is resulting in an imbalance between supply and demand for elderly care resources. The theory of "combined medical and elderly care" (CMEC) has introduced a new perspective in the conception of China's elderly care problems. This study employed the service blueprint, fuzzy failure mode and effects analysis (Fuzzy-FMEA), and the theory of inventive problem solving (TIPS or the Russian acronym TRIZ) for the process optimization of CMEC services in three phases. In the first phase (service process analysis), potential service failure points in the service process were analyzed using the service blueprint technique. In the second phase (service failure diagnosis), Fuzzy-FMEA was applied to diagnose the service failure modes and explore the possible causes and effects. The service failure modes were then prioritized based on fuzzy numbers and the cumulative fuzzy risk priority number (Fuzzy-RPN). Finally, in the third phase (generation of service optimization solutions), the TRIZ parameters, inventive principles, and contradiction matrix were first employed to select TRIZ inventive principles. The selected TRIZ inventive principles were then used to inspire inventive solutions for new service processes. Finally, a case study was conducted on the service processes of elderly care institutions to demonstrate the applicability of the optimization solutions.
Toxoplasmic retinochoroiditis: The influence of age, number of retinochoroidal lesions and genetic polymorphism for IFN-γ +874 T/A as risk factors for recurrence in a survival analysis
Authors: Ana Luisa Quintella do Couto Aleixo, Raquel Vasconcelos C de Oliveira, Maíra Cavalcanti Albuquerque, Ana Luiza Biancardi, André Luiz Land Curi, Eliezer Israel Benchimol, Maria Regina Reis Amendoeira
Journal: PLoS One (2019)
MeSH terms: Chorioretinitis / genetics, Interferon-gamma / genetics, Polymorphism, Genetic / genetics, Toxoplasmosis, Ocular / genetics, Research Support, Non-U.S. Gov't, Adolescent, Anti-Infective Agents / therapeutic use, Chorioretinitis / drug therapy, Female, Humans, Male, Prospective Studies, Recurrence, Risk Factors, Survival Analysis, Toxoplasmosis, Ocular / drug therapy, Visual Acuity / genetics, Anti-Infective Agents, Interferon-gamma

Purpose:
To analyze risk factors for recurrent toxoplasmic retinochoroiditis.
Design:
Single center prospective case series.
Population and methods:
A total of 230 patients with toxoplasmic retinochoroiditis were prospectively followed to assess recurrences. All patients were treated with a specific drug regime for toxoplasmosis in each episode of active retinochoroiditis. Individuals with chronic diseases and pregnant women were excluded. Survival analysis by extended Cox regression model (Prentice-Williams-Peterson counting process model) was performed to evaluate the time between recurrences according to some potential risk factors: age, number of retinochoroidal lesions at initial evaluation, sex and interferon gamma +874 T/A gene polymorphism. Hazard Ratios (HR) and 95% confidence intervals (CI) were provided to interpret the risk effects.
Results:
One hundred sixty-two recurrence episodes were observed in 104 (45.2%) patients during follow-up that lasted from 269 to 1976 days. Mean age at presentation was 32.8 years (Standard deviation = 11.38). The risk of recurrence during follow up was influenced by age (HR = 1.02, 95% CI = 1.01-1.04) and number of retinochoroidal lesions at the beginning of the study (HR = 1.60, 95% CI = 1.07-2.40). Heterozygosis for IFN-γ gene polymorphism at position +874 T/A was also associated with recurrence (HR = 1.49, 95% CI = 1.04-2.14).
Conclusion:
The risk of ocular toxoplasmosis recurrence after an active episode increased with age and was significantly higher in individuals with primary lesions, which suggests that individuals with this characteristic and the elderly could benefit from recurrence prophylactic strategies with antimicrobials. Results suggest an association between IFN-γ gene polymorphism at position +874T/A and recurrence.
Case report: Irinotecan-induced interstitial lung disease in an advanced colorectal cancer patient resurfacing decades after allogeneic bone marrow transplantation for aplastic anemia; a case report and narrative review of literature
Authors: Keisuke Baba, Yasuo Matsubara, Yoshihiro Hirata, Yasunori Ota, Satoshi Takahashi, Narikazu Boku
Journal: Front Oncol (2023)
Keywords: bone marrow transplantation (bmt), colorectal cancer, drug-induced interstitial lung disease (dild), graft-versus-host disease (gvhd), irinotecan, late-onset non-infectious pulmonary complication (lonipc)
MeSH terms: Case Reports

Two mechanisms of drug-induced interstitial lung disease (DILD) have been reported: 1) direct injury of lung epithelial cells and/or endothelial cells in lung capillaries by the drug and/or its metabolites and 2) hypersensitivity reactions. In both mechanisms, immune reactions such as cytokine and T cell activation are involved in DILD. While past and present lung diseases and accumulative lung damage due to smoking and radiation are risk factors for DILD, the association between the immune status of the host and DILD is not well known. Herein, we report a case of advanced colorectal cancer with a history of allogeneic bone marrow transplantation for aplastic anemia more than 30 years prior, in which DILD occurred early after irinotecan-containing chemotherapy. Bone marrow transplantation might be a potential risk factor for DILD.
Rituximab for retroperitoneal fibrosis due to IgG4-related disease: A case report and literature review
Authors: Mohammad Almeqdadi, Mohammed Al-Dulaimi, Aleksandr Perepletchikov, Kevin Tomera, Bertrand L Jaber
Journal: Clin Nephrol Case Stud (2018)
Keywords: igg4-related disease, acute kidney injury, hydronephrosis, retroperitoneal fibrosis, rituximab
MeSH terms: Case Reports

Retroperitoneal fibrosis (RPF) is a progressive fibroinflammatory disease that can be complicated by urinary obstruction. RPF can be the only manifestation of IgG4-related disease (IgG4-RD). Treatment of IgG4-related RPF is challenging and mostly consists of long-term glucocorticoids leading to significant side effects and treatment intolerance. Recent exploration of the role of rituximab as a B-cell depleting therapy in the treatment of IgG4-RD provides therapeutic potential as a well-tolerated alternative to glucocorticoids. We present a case of IgG4-related RPF for which rituximab was instituted as a steroid-sparing treatment strategy. Following 4 doses, kidney function partially recovered, and the disease went into remission. We discuss the potential merit of rituximab for the treatment of patients with IgG4-related RPF.
Complete Pathologic Responses With Immunotherapy in Metastatic Renal Cell Carcinoma: Case Reports
Authors: Matthew D Tucker, Kathryn E Beckermann, Jennifer B Gordetsky, Giovanna A Giannico, Nancy B Davis, Brian I Rini
Journal: Front Oncol (2020)
Keywords: case reports, immunotherapy, kidney neoplasms, pathologic complete responders, pembrolizumab
MeSH terms: Case Reports

Immunotherapy-based combinations have become standard of care in advanced renal cell carcinoma (RCC). Despite the potential for complete radiographic response, complete pathologic responses have been rarely reported. We present two cases of confirmed complete pathologic response to immunotherapy despite residual radiographic abnormalities. The first case describes a 68-year-old female with metastatic RCC who was treated with upfront pembrolizumab plus axitinib. She underwent nephrectomy after 15 doses of pembrolizumab with pathology revealing no evidence of viable tumor. To our knowledge, this is the first reported case of a complete pathologic response with pembrolizumab in metastatic RCC. The second case describes a 64-year-old female with metastatic RCC who was treated with second-line nivolumab after progression on cabozantinib. After 13 doses of nivolumab, she underwent nephrectomy with pathology revealing no evidence of viable tumor. These cases highlight the potential for scar tissue, fibrosis, and necrosis to persist radiographically after treatment with immunotherapy despite the absence of viable tumor cells.
Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray
Authors: Areerat Hnoonual, Phawin Kor-Anantakul, Chariyawan Charalsawadi, Juthamas Worachotekamjorn, Pornprot Limprasert
Journal: Front Genet (2021)
Keywords: angelman syndrome, autism, methylation-specific pcr, microarray, uniparental disomy
MeSH terms: Case Reports

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are etiologically heterogeneous. Chromosomal microarray is now recommended as the first-tier clinical diagnostic test for ASD. We performed chromosomal microarray in 16 Thai patients with ASD using an Illumina HumanCytoSNP-12 v2.1 array and found one case with uniparental disomy (UPD) of chromosome 15. Methylation-specific PCR showed abnormal methylation of the maternal SNRPN allele. Haplotype analysis revealed that the patient had received both chromosomes 15 from his father. These results were consistent with Angelman syndrome. However, his clinical features had no clinical significance for classic Angelman syndrome. He had first presented at the pediatric clinic with no speech, poor social interaction skills and repetitive behaviors consistent with ASD based on the DSM-IV criteria at 2 years of age and later confirmed by ADOS at 5 years of age. He was strikingly overweight but had no dysmorphic facies, seizures nor ataxia and was diagnosed as non-syndromic ASD, a diagnosis which was believed until at 10 years of age, his DNA was included for analysis in this current cohort study. Our findings suggest that ASD patients with unknown etiology should be considered for methylation-specific PCR testing for Angelman syndrome where chromosomal microarray is not available. In the study, we also review the clinical features of Angelman syndrome caused by UPD and the frequency of ASD in individuals with Angelman syndrome.
A case of primary bacteraemia caused by Salmonella enterica serovar Corvallis in an immunocompetent adult after travel to Southeast Asia
Authors: Sho Nakakubo, Kentaro Nagaoka, Masaru Suzuki, Satoshi Konno, Yasushi Shibue, Tetsuya Ikeda, Masaharu Nishimura
Journal: Access Microbiol (2019)
Keywords: salmonella enterica serovar corvallis, bacteraemia, non-typhoidal salmonella, traveller, tropical infection
MeSH terms: Case Reports

Introduction:
Non-typhoidal Salmonella (NTS) that typically causes diarrhoeal disease in humans has a dramatically more severe and more invasive presentation than typhoid fever in immunocompromised adults. However, the incidence and significance of NTS primary bacteraemia in immunocompetent adults have been unclear.
Case presentation:
A 24-year-old man presented to our hospital with a high fever 14 days after travelling to Vietnam and Cambodia for 14 days. His past medical history, family history and social history were unremarkable, except for his dietary intake history during his stay in Southeast Asia. He did not have any abdominal pain, diarrhoea, enterocolitis, arthritis, or abscesses, as determined by multiple examinations, which included computed tomography. The initial blood cultures identified the presence of Gram-negative bacilli, which were finally identified as the Salmonella enterica subspecies serovar Corvallis. Thus, S. enterica serovar Corvallis was the most likely primary bacteria in this patient. Since domestic outbreaks of NTS infections are extremely rare, our case patient was diagnosed with travel-related bacteraemia. The patient had an uneventful recovery after antibiotic administration.
Conclusion:
We report a rare case of bacteraemia caused by S. enterica serovar Corvallis in an immunocompetent adult after travelling through Vietnam and Cambodia. From the experience of our case, we suggest that more caution is necessary when diagnosing the unique clinical features of travel-related NTS infections.
Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review
Authors: Yuhao Wu, Long Wen, Peiru Wang, Xiuli Wang, Guolong Zhang
Journal: Front Genet (2022)
Keywords: fam111b, case report, congenital poikiloderma, literature review, mutation
MeSH terms: Case Reports

Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. FAM111B gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In this report, we described a boy with congenital poikiloderma confirmed by clinical manifestations. Next-generation sequencing based on a gene probe panel consisting of 541 genetic loci of genodermatoses, was used to screen mutations of the proband and his parents. Results showed that a missense mutation in the FAM111B gene c.1883G>A (rs587777238) was identified in the proband, but absent in his parents, indicating the mutation is de novo. In conclusion, a new case of congenital poikiloderma in China was reported, and the hotspot mutations in codon 628 of FAM111B gene was reviewed, as well as authenticating the uncertain association between genotypes and phenotypes in this rare disease.