OpenMed/multicare-articles huggingface dataset:
Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report
Authors: Jinglin Li, Huiwei Qi, Bingxin Xu, Jing Zhao, Hongjun Gao, Xiya Ma, Xiaoqing Liu
Journal: Front Oncol (2019)
Keywords: fat atypical cadherin 1, genomic profiles, hepatoid adenocarcinoma of lung, immunotherapy, α-fetoprotein
MeSH terms: Case Reports

Hepatoid adenocarcinoma of lung (HAL) is a rare and aggressive tumor. The current study reported a new HAL case in the right lower lung with high serum α-fetoprotein (AFP) level in a 71-year-old male patient. After the confirmation of morphology and immunohistochemistry, the patient was diagnosed clinically with HAL and treated with radio-frequency ablation. However, the patient whose disease progressed eventually died 4 months after diagnosis. Whole genome sequencing analysis identified a driver gene mutation in the FAT atypical cadherin 1 gene (FAT1) and the copy number loss. The tumor was microsatellite-stable and tumor mutation burden (TMB) was 1.69 mutations/Mb. PD-L1 expression was negative by IHC. Our finding provide further clues for the molecular basis of HAL and the efficacy of immunotherapy needs to be explored.
Peripheral Solitary Osteoma of the Zygomatic Arch: A Case Report and Literature Review
Authors: Thomas Starch-Jensen
Journal: Open Dent J (2017)
Keywords: dentistry, diagnostic imaging, facial bones, general surgery, neoplasms, osteoma
MeSH terms: Review

Osteoma is a benign slow-growing osteogenic neoplasm commonly occurring in the craniofacial skeleton, characterized by the proliferation of compact and/or cancellous bone. Osteomas may be peripheral, central, or extraskeletal. Peripheral osteomas arise from the periosteum and are quite uncommon in the jaw bones. The exact aetiology and pathogenesis of peripheral osteoma are unknown. Clinically, peripheral osteomas are usually asymptomatic, but depending on the location and size of the lesion, it may cause swelling, pain, esthetic disfigurement and functional impairment. On radiological imaging, a peripheral osteoma appears often as well-circumscribed, round to oval, pedunculated radiopaque mass attached to the cortex by a broad base or a pedicle. Asymptomatic osteomas are treated conservatively, while surgical excision is indicated when the lesion is symptomatic, actively growing, or for cosmetic reasons. Histologically, osteomas are composed of a normal-appearing, dense mass of lamellar bone. Recurrence of peripheral osteoma after surgical removal is extremely rare and there are no reports of malignant transformation. A review of the literature disclosed only 7 well-documented cases of peripheral osteoma located at the zygomatic bone. The purpose of this article is to present the clinical, radiographic, surgical and histological features of a solitary peripheral osteoma of the left zygomatic arch in a 55-year-old woman and to review the literature about this uncommon pathologic entity.
Synergistic application of cardiac sympathetic decentralization and comprehensive psychiatric treatment in the management of anxiety and electrical storm
Authors: Sahib S Khalsa, Leila Shahabi, Olujimi A Ajijola, Alexander Bystritsky, Bruce D Naliboff, Kalyanam Shivkumar
Journal: Front Integr Neurosci (2014)
Keywords: ptsd, anxiety disorders, autonomic nervous system, cognitive behavioral therapy, electrical storm, implantable cardioverter defibrillator, interoceptive awareness, stellate ganglion
MeSH terms: Case Reports

We report here, for the first time, two cases demonstrating a synergistic application of bilateral cardiac sympathetic decentralization and multimodal psychiatric treatment for the assessment and management of anxiety following recurrent Implantable Cardioverter Defibrillator (ICD) shocks. In a first case the combination of bilateral cardiac sympathetic decentralization (BCSD), cognitive behavioral psychotherapy and anxiolytic medication was sufficient to attenuate the patient's symptoms and maladaptive behaviors, with a maintained benefit at 1 year. Among the more prominent subjective changes in the post-lesion state we observed a decrease in aversive interoceptive sensations, particularly of the heartbeat. The patient continued to experience cognitive threat appraisals on a frequent basis, although these were no longer incapacitating. In a second case, we report the effect of BCSD on autonomic tone and subjective state. In the post-lesion state we observed attenuated sympathetic responses to the valsalva maneuver, isometric handgrip and mental arithmetic stressor, including decreased systolic and diastolic blood pressure and, decreased skin conductance. Collectively, these preliminary findings suggest that an integrative, multidisciplinary approach to treating anxiety disorders in the setting of ventricular arrhythmias and recurrent ICD shocks can result in sustained improvements in physical, psychological, and functional status. These findings raise the possibility of a potential role for the stellate ganglion in the modulation of emotional experience and afferent transmission of interoceptive information to the central nervous system.
Synchronous multiple small bowel intussusceptions in an adult with blue rubber bleb naevus syndrome: Report of a case and review of literature
Authors: Clement Lee, Debasish Debnath, Tara Whitburn, Mark Farrugia, Federico Gonzalez
Journal: World J Emerg Surg (2008)

Background:
Blue rubber bleb naevus syndrome (BRBNS), is an uncommon condition characterised by cavernous haemangiomas of skin and gastrointestinal tract. The most common complication of this syndrome is gastrointestinal bleeding. Intussusception of bowel, although a known complication, has rarely been reported.
Case presentation:
We report the case of a 37-year-old man who presented with multiple intussusceptions of small bowel. He required an urgent laparotomy and bowel resections. He suffered from BRBNS. This is the first reported case of multiple synchronous intussusceptions affecting both jejunum and ileum, secondary to haemangiomas occurring in an adult with BRBNS. The underlying conditions of acute abdomen in patients with BRBNS may include intramural haemorrhage, infarction, volvulus or intussusception of bowel. Treatment options include pharmacological manipulation, bowel resection, and interventions such as sclerotherapy, angiographic embolisation, endoscopic ligation, electrocautery and laser photocoagulation for visceral lesions.
Conclusion:
A high index of suspicion is required whilst dealing with acute abdomen in patients with BRBNS. Clinical trials may provide some answers as to the preference of treatment in individual cases, as the current level of evidence does not offer a clear choice of optimal treatment.
Signet Ring Cell Carcinoma of the Colon in Young Adults: A Case Report and Literature Review
Authors: Farida Abi Farraj, Hadi Sabbagh, Tarek Aridi, Najla Fakhruddin, Fadi Farhat
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Colorectal cancer (CRC), one of the leading causes of cancer-related deaths, presents with challenging features related to its diagnosis and management. The incidence of CRC in the adolescent and young adult (AYA) population has increased over the past couple of decades despite the decline in the overall occurrence of CRC in the general population. Signet ring cell carcinoma is one of the rare histopathologic subtypes of CRC; however, it is more prevalent in AYA patients than in older adults and presents with unconventional histologic characteristics, a distinct clinical behavior, and a poor prognosis. We report a case of a primary signet ring cell adenocarcinoma of the ascending colon in a 19-year-old male who presented with unusual signs and symptoms and was diagnosed with stage IVA (T4a N0 M1, with peritoneal seeding). The unusual presentation and location of the tumor in this case warrant further investigation.
Xanthoma of bone: a case report
Authors: Hasnae Guerrouj, Ayat Mouaden, Nouzha Benrais
Journal: Case Rep Endocrinol (2012)
MeSH terms: Case Reports

Bone xanthoma is a rare disease due to the presence of cholesterol deposits in the bone. We report a case of a 56-year-old patient who was hospitalized in orthopedic department for fracture on the left humerus. Histological examination of bone biopsy performed at this site has objectified cholesterol deposits. Laboratory tests showed hypercholesterolemia with hypertriglyceridemia. The diagnosis of bone xanthoma was selected. The fracture was treated surgically. An initial bone scan revealed bone lesions localized especially at the humerus and femur. The patient was put under fenofibrate and statins. The evolution was marked by gradual regression of lesions in bone scans of control.
Case Report: Coexistence of Anti-AMPA Receptor Encephalitis and Positive Biomarkers of Alzheimer's Disease
Authors: Yu Song, Shanshan Chen, Ju Gao, Jie Lu, Wenwen Xu, Xingjian Lin, Jiu Chen
Journal: Front Neurol (2021)
Keywords: alzheimer's disease, anti-α-amino-3-hydroxy-5-methyl-4-lsoxazolepropionic acid receptor, autoimmune encephalitis, cerebrospinal fluid biomarkers, cognitive impairment
MeSH terms: Case Reports

Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor encephalitis is a rare autoimmune disease that is characterized by acute cognitive impairment, mental symptoms, and seizures. The high comorbidity rate between anti-AMPA receptor (AMPAR) encephalitis and other somatic diseases, such as malignancy, has revealed the possibility of potential copathogenesis. However, there have not yet been reports about anti-AMPAR encephalitis with concomitant cerebrospinal fluid (CSF) biomarkers consistent with Alzheimer disease (AD). Herein, we present the case of an elderly male patient with autoimmune encephalitis (AE) presenting with anti-AMPA1-R and anti-AMPA2-R antibodies, as well as CSF biomarkers of AD. The patient was hospitalized with acute memory decline for 1 week. Anti-AMPA1-R and anti-AMPA2-R antibodies were positively detected in CSF, and the anti-AMPA2-R antibody was also present in the serum. Additionally, the biomarkers of AD were concurrently present in CSF (Aβ1-42 = 245.70 pg/mL, t-Tau = 894.48 pg/mL, p-Tau = 78.66 pg/mL). After administering a combined treatment of intravenous immunoglobulin and glucocorticoids, the patient recovered significantly, and his cognitive function achieved a sustained remission during 2 months' follow-up. This case raises the awareness of a possible interaction between AE and changes of CSF biomarkers. We speculated that the existence of AMPAR antibodies can induce changes of CSF, and other pathological alterations. This present report highlights that a potential relationship exists among AE and provides a warning when making the diagnosis of AD.
Bimaxillary Aneurismal Bone Cyst in Patient with End Stage Renal Disease and Hyperparathyroidism: A Rare Case Report and Review of the Literature
Authors: Sedigheh Bakhtiari, Mahin Bakhshi, Fatemeh Mashhadiabbas, Hasan Mir Mohammad Sadeghi, Zahra Elmi Rankohi, Somayeh Rahmani
Journal: Case Rep Dent (2016)

Aneurismal bone cyst (ABC) is a rare bony lesion occurring predominantly in long bones. Its jaws' involvement is uncommon and the simultaneous involvement of both jaws is very rare. This report is about a 27-year-old female experiencing renal failure with ABC involving her maxilla and mandible. The progressive lesion was treated surgically and there was no recurrence after 18 months of follow-up.
Case report: Giant cystic ileal gastrointestinal stromal tumor with an atypical intratumoral abscess
Authors: Linguang Chen, Jiannan Gu, Xuejun Zhang, Aijun Yu
Journal: Front Surg (2023)
Keywords: case report, cystic neoplasm, gastrointestinal stromal tumor, intratumoral abscess, small intestine
MeSH terms: Case Reports

Background:
Gastrointestinal stromal tumors (GISTs) are typically solid, sometimes with small cystic areas, but rarely manifest as predominantly cystic neoplasms. In addition, cystic intestinal GISTs with intratumoral abscess formation are rare.
Case presentation:
We present the case of a 49-year-old male patient with a history of frequent and urgent urination for 2 weeks. Radiologic studies revealed a large cystic mass in the lower abdomen. The patient underwent abdominal laparotomy, which revealed a large cystic mass arising from the distal ileum invading the sigmoid mesocolon and apex vesicae. Partial resection of the ileum along with the tumor and the adjacent bladder was performed. Macroscopic examination revealed that the cystic mass contained a large amount of foul-smelling pus and a tumor-bowel fistula. The final pathology revealed an abdominal stromal tumor. Postoperative recovery was uneventful, and adjuvant imatinib mesylate 400 mg was administered daily. No tumor recurrence or metastasis was observed during the 9-month follow-up period.
Conclusion:
Fingings of a cystic tumor in the abdomen should raise concern for cystic GISTs. This case report reviews a rare presentation of an ileal giant cystic GIST with atypical intratumoral abscess formation. Complete surgical resection and adjuvant imatinib is still the mainstay treatment for GISTs.
Cerebral and pulmonary lymphomatoid granulomatosis and EBV positive oesophageal ulcer in an immunosuppressed renal transplant patient staged and followed with serial MRI and 18F-FDG PET/CT after rituximab therapy
Authors: William Makis, Jean Deschenes
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Lymphomatoid granulomatosis is a rare Epstein-Barr virus-related lymphoproliferative disorder. We describe a case of a 42-year-old female with lupus nephritis and immunosuppression post renal transplant, who was diagnosed with central nervous system and lung lymphomatoid granulomatosis, as well as an Epstein-Barr virus-positive oesophageal ulcer, and was staged and followed up long term with multiple 18F-fludeoxyglucose positron emission tomography/CT scans and brain MRIs after achieving a complete metabolic response with rituximab.
In subfertile couple, abdominal fat loss in men is associated with improvement of sperm quality and pregnancy: a case-series
Authors: Céline Faure, Charlotte Dupont, Martin A Baraibar, Romain Ladouce, Isabelle Cedrin-Durnerin, Jean Philippe Wolf, Rachel Lévy
Journal: PLoS One (2014)
MeSH terms: Abdominal Fat / pathology, Family Characteristics, Infertility / pathology, Spermatozoa / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Adult, Antioxidants / metabolism, Biomarkers / metabolism, Delivery, Obstetric, Female, Hormones / metabolism, Humans, Infant, Newborn, Male, Metabolomics, Oxidation-Reduction, Pregnancy, Pregnancy Outcome, Semen / metabolism, Antioxidants, Biomarkers, Hormones

Background:
The impact of overweight among men of reproductive-age may affect fertility. Abdominal fat, more than body mass index, is an indicator of higher metabolic risk, which seems to be involved in decreasing sperm quality. This study aims to assess the relationship between abdominal fat and sperm DNA fragmentation and the effect of abdominal fat loss, among 6 men in subfertile couples.
Methods:
Sperm DNA fragmentation, abdominal fat and metabolic and hormonal profiles were measured in the 6 men before and after dietary advices. Seminal oxidative stress and antioxidant markers were determined.
Results:
After several months of a lifestyle program, all 6 men lost abdominal fat (patient 1: loss of 3 points of abdominal fat, patient 2: loss of 3 points, patient 3: loss of 2 points, patient 4: loss of 1 point, patient 5: loss of 4 points and patient 6: loss of 13 points). At the same time, their rate of sperm DNA fragmentation decreased: 9.5% vs 31%, 24% vs 43%, 18% vs 47%, 26.3% vs 66%, 25.4% vs 35% and 1.7% vs 25%. Also, an improvement in both metabolic (significant decrease in triglycerides and total cholesterol; p = 0.0139) and hormonal (significant increase in testosterone/oestradiol ratio; p = 0.0139) blood profiles was observed after following the lifestyle program. In seminal plasma, the amount of SOD2 has significantly increased (p = 0.0139) while in parallel carbonylated proteins have decreased. Furthermore, all spouses got pregnant. All pregnancies were brought to term.
Conclusion:
This study shows specifically that sperm DNA fragmentation among men in subfertile couples could be affected by abdominal fat, but improvement of lifestyle factor may correct this alteration. The effect of specific abdominal fat loss on sperm quality needs further investigation. The reduction of oxidative stress may be a contributing factor.
Acute febrile torticollis in youth: clinical investigation and current management
Authors: Naouar Ouattassi, Mohammed Chmiel, Zakaria El Kerouiti, Mohammed Ridal, Mohammed Nouredine Alami
Journal: Pan Afr Med J (2015)
Keywords: fever, children, parapharyngeal abscess, torticollis
MeSH terms: Fever / etiology, Torticollis / etiology, Case Reports, Acute Disease, Child, Child, Preschool, Female, Fever / therapy, Humans, Male, Torticollis / therapy

Acute febrile torticollis in children is a rare and a special clinical picture of variable causes. It may indicate an inflammatory or an infectious pathology affecting any of the anatomical structures of the neck. Treatment is quite clearly defined, and it may be a therapeutic emergency. It is a condition that all ENT specialists must be familiar with since they are most likely to be the first physician to whom such a child is brought.
Late Presentation of a 9 mm Bullet in the Ureteropelvic Junction Causing Acute Renal Failure in a Solitary Functioning Left Kidney
Authors: Hasan Jhaveri, Michael D'Angelo
Journal: J Endourol Case Rep (2018)
Keywords: abdominal gunshot injury, acute renal failure, hydronephrosis, percutaneous nephrolithotomy, renal calculus, urinary obstruction
MeSH terms: Case Reports

Background: Urinary obstruction as a result of a late complication of a gunshot wound is rarely reported. Bullet shell fragments may migrate from their initial location into an area causing obstruction. In this study, we present a case of a left renal calculus surrounding a 9 mm gun shell in a patient with a solitary functioning left kidney. Case Presentation: A 53-year-old man presented with left hydronephrosis found on an urgent CT scan following complaints of left flank pain and signs of acute renal failure 10 years after suffering a gunshot wound to the abdomen. Urgent cystoscopy and bilateral retrograde pyelograms revealed a left ureteropelvic junction calculus surrounding a 9 mm bullet fragment that was ultimately removed percutaneously. Conclusion: Abdominal gunshot shell fragments may migrate over time causing urinary obstruction. In this case the past medical history of the previous gunshot wounds provided insight into the etiology of the patient's actual clinical presentation. This led to the best endoscopic approach for the effective treatment of this unique case.
Asynchronous Bilateral Ureteric-Arterial Fistula: Diagnosis and Treatment
Authors: Pietro Pepe, Letterio D'Arrigo, Domenico Patane', Ludovica Pepe, Giuseppe Candiano, Michele Pennisi
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

A 48-year-old woman submitted to anterior exenteration plus ileal-cutaneous conduit for metastatic cervical cancer during the change of the ureteral stent showed massive bleeding in the left ureter. A selective intra-arterial angiography showed a fistula between the ureter and the left common iliac artery that the interventional radiologist quickly repaired by inserting a vascular endoprosthesis. Six months later, gross hematuria secondary to right ureter-iliac fistula occurred again and a second endoprosthesis was inserted. Asynchronous bilateral ureteric stent-related vascular fistula is an uncommon scenario, but it should be suspected in the presence of hematuria following ureteral stent replacement.