OpenMed/multicare-articles huggingface dataset:
Pulmonary Vein Occlusion and Lung Infarction after Radiofrequency Ablation of Atrial Fibrillation
Authors: Julyan Al Fori, Maryam Al Belushi, Mohammed Al Shuraiqi, Ghalia Al Mohanny, Rashid Al Umairi, Nasser Al Busaidi
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Background:
Pulmonary vein (PV) radiofrequency ablation (RFA) is an effective technique for a selected group of patients with atrial fibrillation (AF) refractory to antiarrhythmic drugs (Alfudhili et al., 2017). However, pulmonary vein occlusion is a potentially rare, sometimes severe, complication which may present clinically as nonspecific respiratory symptoms, signifying pulmonary vein stenosis, that are often underrecognized or misdiagnosed, leading to progression of the low-grade stenosis to complete occlusion if not treated with timely intervention (Alfudhili et al., 2017). Case Presentation. We report the first case of haemoptysis, three months postradiofrequency ablation (i.e., late complication) secondary to pulmonary vein occlusion that was diagnosed by computed tomography angiogram (CTA), which showed occlusion of 2 out of 4 native pulmonary veins.
Conclusion:
The cause of haemoptysis in this patient was pulmonary vein occlusion, secondary to radiofrequency ablation, as demonstrated in the CTA.
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
Authors: Carlos A Calvache, Estefanía C Vásquez, Vanessa I Romero, Kazuyoshi Hosomichi, Juan C Pozo
Journal: Front Pediatr (2022)
Keywords: ecuador, sox9 gene, campomelic dysplasia, high-mobility group box (hmg), self-dimerization domain (dim)
MeSH terms: Case Reports

Background:
Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene.
Case presentation:
We herein report a case involving a 4-year-old female patient with CD, female sex reversal, type 1 Arnold-Chiari malformation, and bilateral conductive hearing loss and investigate the causal mutation. Whole-exome sequencing analysis detected a novel Trp115X* variant in the SOX9 gene. We performed a literature review of the reported cases and demonstrated that the missense variants were located only in the self-dimerization domain (DIM) and high-mobility group box domains. We also reported that variants in the DIM domain do not cause sex reversal and identified that the amino acid sequences that were mutated in the patients with campomelic dysplasia are evolutionarily conserved among primates.
Conclusions:
We suggest that missense variants cannot be located in the K2, PQA, and PQS given that these domains function critically for transcriptional activation or repression of target genes and evolve under purifying selection.
Intralobar Pulmonary Sequestration Presenting as Hemothorax Secondary to Spontaneous Pneumothorax: Case Report and Literature Review
Authors: Tian Chen, Jie Yu, Na Zhang, Chenghao Chen, Libing Fu, Qi Zeng
Journal: Front Pediatr (2022)
Keywords: hemothorax, intralobar, pneumothorax, pulmonary sequestration, spontaneous
MeSH terms: Case Reports

Introduction:
Patients with pulmonary sequestration (PS), a rare congenital lung malformation, are mostly asymptomatic. Recurrent localized infection is a major complication, while sudden hemothorax is extremely rare. We present a case of intralobar PS presenting as hemothorax secondary to spontaneous pneumothorax and comprehensively review the relevant literature.
Case report:
A 16-year-old male presented with chest pain after strenuous exercise. Chest X-ray showed a moderate pneumothorax. After admission and conservative treatment, he developed dizziness, amaurosis, and urinary incontinence. Bedside chest X-ray suggested a massive pleural effusion, and hemothorax was further identified via catheter drainage. Contrast-enhanced computed tomography was performed, and no abnormal blood vessels or leakage of contrast agent were observed. As the hemoglobin level continued to drop, exploratory thoracoscopic surgery was performed immediately. The abnormal systemic artery supplying the lung tissue was found to be ruptured; therefore, ligation of the abnormal artery with resection of the diseased lung tissue was performed. Pathological examination revealed non-specific manifestations of PS. He was followed up for 1 year without related complications.
Conclusion:
Our case suggests that the abnormal supply vessels of PS are unstable, which may cause sudden hemothorax. Therefore, patients with PS should undergo surgery promptly after diagnosis. In patients with hemothorax, we should consider the diagnosis of PS; however, contrast-enhanced computed tomography or angiography cannot confirm the diagnosis in all cases. Surgical intervention is recommended in emergency settings.
Synchronous adenocarcinoma and carcinoid tumor of the terminal ileum in a Crohn's disease patient
Authors: Ugo Cioffi, Matilde De Simone, Stefano Ferrero, Michele M Ciulla, Alessandro Lemos, Ettore Contessini Avesani
Journal: BMC Cancer (2005)
MeSH terms: Adenocarcinoma / complications, Carcinoid Tumor / complications, Crohn Disease / complications, Ileal Neoplasms / complications, Neoplasms, Second Primary / diagnosis, Case Reports, Adenocarcinoma / diagnosis, Carcinoid Tumor / diagnosis, Chromogranin A, Chromogranins / metabolism, Crohn Disease / diagnosis, Female, Humans, Ileal Neoplasms / diagnosis, Ileal Neoplasms / pathology, Ileum / pathology, Immunohistochemistry, Middle Aged, Chromogranin A, Chromogranins

Background:
Several malignancies have been described in association with inflammatory bowel diseases, the most common being adenocarcinoma. Carcinoid tumor and Crohn disease has also been previously reported, however the coexistence of both neoplasms is quite rare and the clinical diagnosis is very difficult. Here we report what we believe to be the fourth case of a mixed adenocarcinoid tumor coexisting with Crohn's disease.
Case report:
The patient presented with clinical and radiological features of intestinal obstruction. Laparotomy showed a stricturing lesion in the last 6 cm of the terminal ileum with proximal dilation. Only the histology of the resected surgical specimen proved the presence of a mixed adenocarcinoid tumor involving the terminal ileum.
Conclusion:
Carcinoid tumor should be suspected in elderly patients with Crohn's disease presenting with intestinal obstruction and laparotomy should be considered to exclude malignancy.
Successful Closed Reduction of a Lateral Elbow Dislocation
Authors: Kenya Watanabe, Takuma Fukuzawa, Katsuhiro Mitsui
Journal: Case Rep Orthop (2016)
MeSH terms: Case Reports

In this report, we present a case of lateral elbow dislocation treated with closed reduction. Lateral elbow dislocation is rare, and a closed reduction is reported with even less frequency. The reduction can be hindered by swelling and soft tissue interposition, and we describe the use of a nonoperative reduction technique performed under mild sedation with early physiotherapy to avoid joint stiffness. No additional complication was observed, and the normal range of elbow movement and function was obtained by early physiotherapy.
Rare Case of Dental Implantation in the Segment with Residual Filling Material in the Mandibular Canal
Authors: Yury Georgievich Sedov, Kamil Nail'evich Khabiev, Zulfiya Iltuzurovna Yarulina, Vasiliy Stanislavovich Tarasuk, Anatoliy Mikhailovich Avanesov, Nikolay Ivanovich Sergeev, Vitaliy Georgievich Pantsulaya, Irina Gennad'evna Sedova
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Dental implantation is the most popular method of restoring lost teeth. There are risk factors for dental implantation. These risk factors include the localization of residual filling material in the lumen of the mandibular canal in the selected jaw segment for implantation. A rare clinical case of dental implant placement with preservation of the safety zone relative to the residual siler in the mandibular canal is presented. A surgical guide was used for precise positioning. The treatment protocol was carried out without an immediate loading stage to monitor the possible development of symptoms.
Isolated cervical extraosseous intradural chordoma attached to the C5 nerve root: a case report
Authors: Juliana Rotter, Kyle Mueller, Ashley MacConnell, Jason McGowan, Steven Spitz
Journal: Chin Neurosurg J (2019)
Keywords: cervical spine, chordoma, extraosseous, intradural extramedullary, nerve root
MeSH terms: Case Reports

Background:
As chordomas are slow growing and locally invasive with high recurrence rates, initial recommendations include complete surgical resection with or without radiation therapy. A large proportion of recurrences occur years after initial resection necessitating lengthy follow-up. The novel biomarker brachyury and the repurposing of pharmaceutical products have the potential to substantially impact long-term recurrence rates.
Case presentation:
A 43-year-old woman presented with an isolated, cervical extraosseous intradural extramedullary chordoma attached to a nerve root underwent a C3-5 laminectomy, C3-5 lateral mass screw instrumentation, and mass resection. All symptoms resolved by the 12-month postoperative follow-up visit.
Conclusions:
This is the first report of an isolated, cervical extraosseous intradural extramedullary chordoma attached to a nerve root, and this case adds to the previous six Type IV chordomas in the literature. Unfortunately, the very rare form of extraosseous intradural chordoma is poorly understood: the lack of detailed knowledge in how they are differentiated from other forms of chordoma confounds the development of optimal treatment strategies and follow-up guidelines.
A 37 mm Spindle Cell Lipoma on the Floor of the Mouth
Authors: Eve Malthiery, Valérie Costes-Martineau, Marie-Alix Fauroux, Jacques-Henri Torres
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Spindle cell lipoma (SCL) is a rare variety of lipoma that mostly arises in male patients and rarely affects the oral cavity. The floor of the mouth is an uncommon site for SCL, and very few cases have been reported in this location. A case of SCL is reported in a 70-year-old woman who had noticed a swelling of the floor of the mouth without any functional consequence. Both ultrasonography and RMI suggested a diagnosis of ranula, whereas clinical palpation showed a nonfluctuant mass. The lesion was excised under local anesthesia. A 37 × 32 mm encapsulated yellow mass was removed. Histological features (mature adipocytes and CD34+ spindle cells) led to a diagnosis of SCL. Medical imaging assessment of this lesion could have been influenced by the high frequency of the ranulas in the floor of the mouth. This case appears to be quite infrequent because of its location (floor of the mouth), its size (over 3.5 cm), and the patient's gender (female).
Benefits of Home-Based Exercise Training Following Critical SARS-CoV-2 Infection: A Case Report
Authors: Igor Longobardi, Danilo Marcelo Leite do Prado, Karla Fabiana Goessler, Gersiel Nascimento de Oliveira Júnior, Danieli Castro Oliveira de Andrade, Bruno Gualano, Hamilton Roschel
Journal: Front Sports Act Living (2022)
Keywords: case report, exercise training, fatigue, long covid, physical rehabilitation, severe acute respiratory syndrome
MeSH terms: Case Reports

In the current scenario, in which an elevated number of COVID-19 survivors present with severe physical deconditioning, exercise intolerance, persistent symptoms, and other post-acute consequences, effective rehabilitation strategies are of utmost relevance. In this study, we report for the first time the effect of home-based exercise training (HBET) in a survivor patient from critical COVID-19 illness. A 67-year-old woman who had critical COVID-19 disease [71 days of hospitalization, of which 49 days were in the intensive care unit (ICU) with invasive mechanical ventilation due to respiratory failure] underwent a 10-week HBET aiming to recovering overall physical condition. Before and after the intervention, we assessed cardiopulmonary parameters, skeletal muscle strength and functionality, fatigue severity, and self-reported persistent symptoms. At baseline (3 months after discharge), she presented with severe impairment in cardiorespiratory functional capacity (<50% age predicted VO2peak). After the intervention, remarkable improvements in VO2peak (from 10.61 to 15.48 mL·kg-1·min-1, Δ: 45.9%), oxygen uptake efficiency slope (OUES; from 1.0 to 1.3 L·min-1, Δ: 30.1%), HR/VO2 slope (from 92 to 52 bpm·L-1, Δ: -43.5%), the lowest VE/VCO2 ratio (from 35.4 to 32.9 L·min-1, Δ: -7.1%), and exertional dyspnea were observed. In addition, handgrip strength (from 22 to 27 kg, Δ: 22.7%), 30-s Sit-to-Stand (30-STS; from 14 to 16 repetitions, Δ:14.3%), Timed-Up-and-Go (TUG; from 8.25 to 7.01 s, Δ: -15%) performance and post-COVID functional status (PCFS) score (from 4 to 2) were also improved from baseline to post-intervention. Self-reported persistent symptoms were also improved, and Fatigue Severity Scale (FSS) score decreased (from 4 to 2.7) from baseline to post-intervention. This is the first evidence that a semi-supervised, HBET program may be safe and potentially effective in improving cardiorespiratory and physical functionality in COVID-19 survivors. Controlled studies are warranted to confirm these findings.
Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord
Authors: Samantha Mascelli, Mariasavina Severino, Alessandro Raso, Paolo Nozza, Elisa Tassano, Giovanni Morana, Patrizia De Marco, Elisa Merello, Claudia Milanaccio, Marco Pavanello, Andrea Rossi, Armando Cama, Maria Luisa Garrè, Valeria Capra
Journal: Mol Cytogenet (2014)
Keywords: 15q duplication, 22q112 deletion, pilocytic astrocytoma, semicircular canal dysplasia, spinal cord
MeSH terms: Case Reports

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.
Refractory hypoglycemia induced by a duodenal wall gastrointestinal stromal tumor: A case report
Authors: Foolad Eghbali, Reza Karami
Journal: Caspian J Intern Med (2021)
Keywords: gist, hypoglycemia, igf-ii
MeSH terms: Case Reports

Background:
Tumor-associated hypoglycemia can be caused by non-islet cell tumors including gastrointestinal stromal tumor (GIST) which is a rare paraneoplastic syndrome that leads to the release of insulin-like growth factor-2 (IGF-2).
Case presentation:
We report the case of a 45-year old woman who was admitted to our hospital with refractory hypoglycemic episodes. We found normal serum insulin and c-peptide level and abdominal CT-scan showed a small duodenal wall lesion suggesting insulinoma. After tumor resection, hypoglycemia symptoms were recovered, but the pathological findings demonstrated the lesion was GIST.
Conclusion:
In a small gastrointestinal lesion with hypoglycemic symptoms we should consider IGF-II secreting GIST in addition to insulinoma.
Gastric adenocarcinoma appearance in leiomyoma: A case report
Authors: Kaoru Wada, Hirofumi Tazawa, Toshiaki Komo, Naoto Hadano, Takashi Onoe, Takeshi Sudo, Yosuke Shimizu, Kazuya Kuraoka, Takahisa Suzuki, Hirotaka Tashiro
Journal: Int J Surg Case Rep (2020)
Keywords: adenocarcinoma in leiomyoma, solitary heterotopic gastric gland
MeSH terms: Case Reports

Introduction:
We experienced an extremely rare case of gastric adenocarcinoma wrapped by leiomyoma.
Presentation of case:
A 65-year-old man had an abnormality (filling defect) of the upper gastrointestinal series in his first medical checkup five years prior. Esophagogastroduodenoscopy detected a 10 mm submucosal tumor-like lesion in the greater curvature of the upper gastric remnant body. Despite repeated biopsy from the lesion, there was no sign of malignancy. A delle was observed on the top of the tumor at another visit five year after the first and a biopsy specimen revealed poorly differentiated adenocarcinoma. Therefore, laparoscopic gastrectomy was performed. Histological assessment revealed a 28 × 22 mm elevated lesion with a slight depression. Microscopically, papillary adenocarcinoma was observed at the submucosa with a solitary heterotopic gastric gland adjacent to the lesion. The final diagnosis was papillary adenocarcinoma arising from a solitary heterotopic gastric gland in the leiomyoma. No recurrence has occurred during a follow-up of two and a half years after surgery.
Conclusions:
This is the first report of gastric adenocarcinoma arising from a submucosal tumor.
Case report: Long response to PD-1 blockade after failure of trastuzumab plus chemotherapy in advanced Epstein-Barr virus-associated gastric cancer
Authors: Yan Pan, Linbin Lu, Huan Liu, Di Chen, Ning Han, Ruirong Yao, Xinlin Wang, Xianchun Gao, Jun Yu, Ling Chen, Fenli Zhou, Guangjun Hao, Yuanyuan Lu, Mengbin Li, Guangbin He, Fei Kang, Zengshan Li, Yongqiang Tang, Jinsong Zhang, Lichun Wei, Yongzhan Nie
Journal: Front Immunol (2022)
Keywords: epstein-barr virus, her2, pd-1, gastric cancer, immunotherapy
MeSH terms: Epstein-Barr Virus Infections / complications, Stomach Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, B7-H1 Antigen / genetics, Herpesvirus 4, Human, Humans, Male, Middle Aged, Positron Emission Tomography Computed Tomography, Trastuzumab / therapeutic use, Trastuzumab, B7-H1 Antigen

Background:
Trastuzumab-containing chemotherapy is the first-line treatment for advanced gastric cancer (GC) with HER2 positive. Although PD-1 inhibitors significantly improved the outcome of GC patient's refractory to previous chemotherapy regimens, few studies explore the role of anti-PD-1 therapy overcomes resistance to trastuzumab plus chemotherapy in advanced Epstein-Barr Virus-associated gastric cancer (EBVaGC) with PD-L1 and HER2 positive.
Case presentation:
We report a case of advanced EBVaGC in a 45-year-old man presenting with fatigue, dysphagia, and weight loss for several months. Initial endoscopy revealed a large tumor at the gastroesophageal junction. Computed tomography revealed GC accompanied by multiple lymph nodes and hepatic and pulmonary metastases. The immunohistochemistry indicated that HER-2 and PD-L1 were overexpressed, and tumor cells were positive for EBV-encoded small RNA (EBER) by in situ hybridization. Trastuzumab plus DCS was started as first-line chemotherapy with a PFS of 4 months and shifted to trastuzumab plus FOLFIRI or gemcitabine as second-/third-line therapy. After five-cycle nivolumab monotherapy, the patient received partial response and was treated with total radical gastrectomy plus sequential radiotherapy. He continued the postoperative immunotherapy over 30 cycles with a PFS of 28 months. Due to a new abdominal lymph node metastasis confirmed by PET-CT, he received toripalimab as the next-line treatment and achieved complete remission as the best objective response.
Summary:
We presented an advanced HER2-positive EBVaGC patient with PD-L1 high expression, refractory to trastuzumab plus chemotherapy, and had a durable clinical benefit sequence with a single dose of the PD-1 inhibitor.
Management of women with surgically staged 1 uterine papillary serous cancer
Authors: Laurie Elit, Andre Laroche, Lauren Smith, John Mazurka, Francois Moens, Jan Hauspy, Waldo Jimenez
Journal: ISRN Obstet Gynecol (2011)

Objective. To review the management and outcomes of women with surgically staged 1 UPSC. Methods. We report on a case series from 2008-2010 from Hamilton Canada. We summarize the data from a literature search on surgically staged 1 UPSC. Results. There is a group women with Stage 1A UPSC with no residual disease at time of surgery who do not require adjuvant therapy. Vault recurrences appear to be lower in women who received adjuvant vault radiation. Chemotherapy appears to confer longer survival for those women with Stage 1B or 1C disease compared of those observed or who had radiation alone. Conclusion. Adjuvant therapy appears to confer benefit in certain groups of women with stage 1 UPSC. A randomized controlled study would clarify the degree of benefit.
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Authors: Ema Ivandic, Marjan Maric, Vesna Elvedi-Gasparovic, Margareta Fistrek Prlic, Lovro Lamot, Bojan Jelakovic, Ivana Vukovic Brinar
Journal: Front Med (Lausanne) (2023)
Keywords: case report, chronic kidney disease, cystinuria, multidisciplinary approach, pregnancy
MeSH terms: Case Reports

Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations. Patients with cystinuria have excessive urinary excretion of cystine, which can lead to the formation of stones. Up to 70% of patients will develop chronic kidney disease that can progress even to end-stage renal disease. Symptoms usually start in the first two decades of life with a typical presentation consisting of flank pain and renal colic, usually accompanied by urinary tract infection and deterioration of kidney function. Men are typically affected twice as often as women and have a more severe clinical course. Diagnosis is made by spectrophotometric analysis of the stones that are collected after spontaneous expulsion or medical intervention. Genetic testing is not mandatory but is recommended in uncertain cases or as a part of genetic counseling. Treatment consists of diet modification, alkalization of urine, and thiol-based therapies if other measures fail to prevent stone formation. In pregnancy, cystinuria with the formation of cystine stones represents a therapeutic challenge and requires a multidisciplinary approach consisting of an uro-nephrology team and a gynecologist. We present the case of a 34-year-old woman with cystinuria on whom the diagnosis was made by analysis of the expulsed stone. While her previous pregnancies were without complications, her third pregnancy was accompanied by frequent urinary tract infections, acute worsening of kidney function, and urological interventions during pregnancy due to the formation of new stones. Despite the complicated course, the pregnancy was successfully carried to term with the delivery of a healthy female child.