OpenMed/multicare-articles huggingface dataset:
Bone metastases from gastrointestinal stromal tumor: a case report
Authors: Jihen Feki, Racem Bouzguenda, Lobna Ayedi, Moez Bradi, Tahia Boudawara, Jamel Daoud, Mounir Frikha
Journal: Case Rep Oncol Med (2012)

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Their most common metastatic sites are the liver and the peritoneum, but GISTs rarely metastasize to the bones. We report a case of a 58-year-old man with sternoclavicular joint metastasis from a GIST manifesting 28 months after surgical resection of the small intestine tumor. We will discuss through this paper and a literature review the clinical characteristics, imaging features, and management of this unusual metastatic location of GIST.
Anal Canal Duplication Mimicking Recurrent Abscess: A Case Report and Review of the Literature
Authors: Dandan Li, Shuaibin Liu, Jiexiong Feng, Jixin Yang
Journal: Front Surg (2022)
Keywords: anal canal duplication, crissum abscess, duplication of the gastrointestinal tract, secondary anal orifice, total surgical excision
MeSH terms: Review

Background:
Anal canal duplication (ACD) is a very rare duplication of the gastrointestinal tract and is described as a secondary anal orifice along the posterior side of the normal anal canal. Early surgical removal is advisable, also in asymptomatic patients, because of the risk of inflammatory complications, such as recurrent crissum abscess, and malignant changes.
Case presentation:
A previously healthy 2-year-old boy was evaluated in the emergency department with fever. He complained of anal pain in the absence of incentive. Physical examination and ultrasound confirmed a diagnosis of perianal abscess. He was treated with incision and drainage of the abscess and intravenous antibiotics. Two months after his discharge from the hospital, he developed fever and had intervals discharge pus and pain in the same locations. Colorectal endoscopy revealed that there was no fistula opening at the rectal wall. Intraoperative fistulography showed a fistulous tract that was connected to a subcutaneous cavity. Excision of the fistulous tract and wide drainage of the deep postanal space were performed. The patient was referred to our hospital for further evaluation 6 months later. Physical examination showed a secondary anus that had not been noticed before. MRI showed an anal fistula between 1 and 3 o'clock, and preoperative fistulography revealed a 3-cm-long tubular structure without any connection with the rectum. The diagnosis of ACD was made by intraoperative examination with a metal catheter and the postoperative pathological analysis. The duplicated anal canal was resected completely via a perianal approach without any rectal injury. Histology showed a squamous epithelium in the distal end with some smooth-muscle fibers. After a follow-up of 8 months, the patient has been doing well.
Conclusion:
Recurrent crissum abscess should raise clinical attention to alimentary tract congenital malformations such as ACD. Prompt recognition of these unique presentations of ACD is needed, and complete excision through a perineal approach or posterior sagittal approach is recommended.
Nummular headache: a case report of remission following ketogenic diet and botulinum toxin type A injections
Authors: Yan Tereshko, Simone Dal Bello, Christian Lettieri, Enrico Belgrado, Giovanni Merlino, Gian Luigi Gigli, Mariarosaria Valente
Journal: Front Neurol (2023)
Keywords: botulinum toxin, ketogenic diet, nummular headache, pain, rare disorder
MeSH terms: Case Reports

Nummular headache is an unusual facial pain disorder with no evidence-based therapy recommendations. The ketogenic diet is an alternative therapy that demonstrated to be effective in migraineurs, but it was never used in the setting of nummular headache. We describe a 58-years old female patient with nummular headache successfully treated with a 6-months ketogenic diet and botulinum toxin type A injections. Ketogenic diet could be an effective alternative/complementary therapy in nummular headache patients although more studies are needed to confirm our results.
Perinatal lethal type II osteogenesis imperfecta: a case report
Authors: Imene Dahmane Ayadi, Emira Ben Hamida, Rania Ben Rebeh, Sihem Chaouachi, Zahra Marrakchi
Journal: Pan Afr Med J (2015)
Keywords: osteogenesis imperfecta, newborn, prenatal diagnosis
MeSH terms: Osteogenesis Imperfecta / diagnosis, Respiratory Insufficiency / etiology, Ultrasonography, Prenatal / methods, Case Reports, Adult, Fatal Outcome, Female, Humans, Infant, Newborn, Osteogenesis Imperfecta / physiopathology, Pregnancy, Osteogenesis imperfecta, type 2A

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.
3D multidetector CT angiographic evaluation of intralobular bronchopulmonary sequestration
Authors: Ruchira Marwah, Jaykumar R Nair, Arbinder Singal, Inder Talwar
Journal: J Indian Assoc Pediatr Surg (2010)
Keywords: 3d ct angiography, anomalous venous drainage, intralobar sequestration, maximum intensity projection, volume rendering technique
MeSH terms: Case Reports

We report a case of intralobar pulmonary sequestration with special emphasis on computed tomography (CT) angiography in determining the arterial supply and venous drainage, thus providing a detailed knowledge of the vasculature, which is of vital importance in surgery. The 3D volume rendering technique and maximum intensity projection images provide the vascular road map for the surgeon.
Case Report: Intoxication in a Pig ( Sus Scrofa Domesticus) After Transdermal Fentanyl Patch Ingestion
Authors: Jerneja Sredenšek, Maša Bošnjak, Urša Lampreht Tratar, Tina Kosjek, Maja Cemazar, Mojca Kržan, Alenka Seliškar
Journal: Front Vet Sci (2020)
Keywords: fentanyl transdermal patch, intoxication, naloxone-opioid overdose, pharmacokinetics, pig
MeSH terms: Case Reports

An experimental study on the effects of electroporation on pancreatic tissue was performed in pigs, and the fentanyl transdermal patch (FTP) was used postoperatively as part of multimodal pain management. Ingestion of an FTP, which resulted in fentanyl intoxication, was suspected 5 days after placement in one of the experimental pigs. The pig was first dysphoric, running in the stall, panting and vocalizing until it finally became depressed and it remained lying on the floor. Ingestion of an FTP was not observed but the fentanyl plasma concentration on the day of intoxication was 20.7 ng/ml, while at its peak after FTP administration it was only 0.492 ng/ml. The intoxication was successfully treated with a single intramuscular naloxone injection.
Robot-Assisted Excision of Congenital Mega-Seminal Vesicle Associated with Zinner's Syndrome
Authors: Campbell F Bryson, Sophia Delpe, Stephanie Tatzel, Aaron Perecman, Adam Hittelman, Michael S Leapman
Journal: J Endourol Case Rep (2019)
Keywords: zinner's syndrome, minimally invasive, robot-assisted laparoscopic surgery, seminal vesicle cyst
MeSH terms: Case Reports

Background: Abnormalities of mesonephric ducts are rare congenital conditions, which can present with vague symptoms in otherwise healthy men. Zinner's syndrome is the association of an enlarged seminal vesicle cyst with ipsilateral renal agenesis, which can be symptomatic and require operative interventions. Case: We present the case of an otherwise healthy 24-year-old man who presented with a symptomatic 15 cm seminal vesicle cyst, which was completely excised using a robot-assisted approach. Conclusion: Use of robotic surgery for excision of large seminal vesicle cysts is a safe and effective operative procedure.
Portal Vein Thrombosis Might Develop by COVID-19 Infection or Vaccination: A Systematic Review of Case-Report Studies
Authors: Setare Kheyrandish, Amirhossein Rastgar, Morteza Arab-Zozani, Gholamreza Anani Sarab
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, case report, liver diseases, portal vein, vaccines, venous thrombosis
MeSH terms: Systematic Review

Background and Objective: Infection by the novel coronavirus disease 2019 (COVID-19) has been associated with different types of thrombotic complications same as portal vein thrombosis (PVT). However, by emerging vaccines of COVID, the thrombosis did not seem to be concerning anymore. Until new findings showed that, the vaccine of COVID itself can cause PVT. Method: We performed an electronic search in PubMed, Scopus, and Web of Sciences to evaluate the possibility of occurring PVT due to infection and vaccination of COVID-19. The results were reported in a narrative method and categorized into tables. Result: Overall, 40 cases of PVT from 34 studies were reviewed in this article. The prevalence of PVT following COVID-19 was more remarkable in males. However, it was more common in females after vaccinations of COVID-19 in the reviewed cases. Regardless of etiology, 20 of PVT cases reviewed in this article had at least one comorbidity. The most common clinical presentation was abdominal pain (AP). After anticoagulant therapies, most of the patients improved or discharged. Conclusion: As long as the laboratory findings are not appropriate enough to predict PVT, the diagnosis of this complication with whatever underlying reason is challengeable, while rapid diagnosis and treatment of that are vital. Therefore, by providing available data in an organized way, we aimed to prepare the information of infected patients for better and easier future diagnosis of PVT in new cases.
Successful management of severe asthma in a young boy with eosinophilic chronic rhinosinusitis who received omalizumab: a case report
Authors: Yasuho Shoda, Misa Watanabe, Kota Wada, Takehiko Soutome, Yumiko Komine, Tetsuo Mikami, Tetsuo Nemoto, Akira Ohara
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: bronchial asthma, child, eosinophilic chronic rhinosinusitis, mepolizumab, nasal polyp, omalizumab
MeSH terms: Case Reports

Background:
The incidence of chronic rhinosinusitis with nasal polyps has recently increased in Japan and other East Asian countries, and this disease is called eosinophilic chronic sinusitis (ECRS) in Japan. ECRS usually occurs in adults and is frequently accompanied by refractory bronchial asthma. However, its occurrence in children under 10 years of age is rare. Here, we present an unusual case of ECRS complicated by intractable asthma in an 8-year-old boy.
Case presentation:
Oral administration of prednisolone (10 mg/day) initially relieved the ECRS and bronchial asthma, but both returned during prednisolone dose reduction. Because nasal cavity-opening surgery was ineffective, oral administration prednisolone at 10 mg/day was continued. Pancytopenia was observed 16 months after the start of treatment, and the patient was admitted to our hospital. He was diagnosed with refractory cytopenia in childhood, but gradually improved after cyclosporine treatment. Although the dose of cyclosporine was therapeutic for asthma, it did not alleviate the asthma attacks, and the patient's quality of life markedly decreased. We administered omalizumab even though its use was contraindicated by negative results in an inhalable antigen test. After the third administration of omalizumab, the asthma was better controlled and respiratory function improved; however, the nasal symptoms of ECRS persisted. Attempts to relieve these symptoms by increasing the therapeutic dose of omalizumab were only partially successful. We replaced omalizumab with mepolizumab; doing so slightly improved the sinusitis symptoms, but quality of life remained unsatisfactory. We repeated the nasal cavity-opening surgery. After surgery, the asthma and sinusitis were unchanged.
Conclusions:
Omalizumab effectively treated the severe combined asthma in a young patient, but its effect on sinusitis was insufficient. More cases and long-term follow-up data are needed to better evaluate the effectiveness of mepolizumab for treatment of ECRS.
Long-Term Suitability of Left Gastric Artery Inflow for Arterial Perfusion of Living Donor Right Lobe Grafts
Authors: Judyta A Lipinska, Johnny Wang, Joseph N Carey, Aaron A Ahearn, Yuri S Genyk
Journal: Case Rep Transplant (2022)
MeSH terms: Case Reports

Poorer than expected, living donor liver transplant outcomes are observed after recipient graft artery thrombosis. At grafting, the risk for later thrombosis is high if a dissected hepatic artery is used for standard reconstruction. Surgeon diagnosis of dissection requires nonstandard management with alternative technique in addition to microvascular expertise. Intimal flap repair with standard reconstruction is contingent on basis of a redo anastomosis. It is a suboptimal choice for living donor transplantation. Achieving goal graft arterial perfusion at first revascularization is crucial for superior outcomes. Managing dissection at grafting with nonstandard left gastric artery reconstruction is unreported. Our experience is limited, but this is our preferred alternative technique to standard hepatic artery reconstruction complicated by dissection. Here, we describe our two-case experience with left gastric arterialized grafts for management of dissection. Our living donor graft recipients with alternatively arterialized grafts are now 6- and 2-years posttransplant.
Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation
Authors: Anastasia Zaytseva, Tatyana Tulintseva, Yulya Fomicheva, Valeria Mikhailova, Tatiana Treshkur, Anna Kostareva
Journal: Front Genet (2022)
Keywords: abcc9, katp channels, atrial hypertension, case report, ventricular fibrillation (vf)
MeSH terms: Case Reports

Genetic variants in the ABCC9 gene, encoding the SUR2 auxiliary subunit from KATP channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies. The gain-of-function mutations result in Cantu syndrome, acromegaloid facial appearance, hypertrichosis, and acromegaloid facial features. The loss-of-function mutations in the ABCC9 gene were associated with the Brugada syndrome, early repolarization syndrome, and dilated cardiomyopathy. Here, we reported a patient with a loss-of-function variant in the ABCC9 gene, identified by target high-throughput sequencing. The female proband presented with several episodes of ventricular fibrillation and hypokalemia upon emotional stress. This case sheds light on the consequences of KATP channel dysfunction in the cardiovascular system and underlines the complexity of the clinical presentation of ABCC9-related diseases.
A Unique Presentation of Metastatic Gallbladder Carcinoma
Authors: Yuqian Tian, Carrie Luu, Danielle H Carpenter, Grace Montenegro
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Gallbladder carcinoma can be challenging to diagnose and treat and usually leads to poor outcome, due to its aggressive nature and the nonspecific clinical presentation at early stage. We describe an interesting case of a 60-year-old female who presented with stage 3 appendiceal carcinoma after appendectomy was performed outside hospital. Further imaging workup demonstrated enlarged ovarian cysts and porcelain gallbladder. Upon exploration, she was found to have carcinomatosis and we proceeded with cytoreductive surgery (CRS) and hyperthermic intraperitoneal therapy (HIPEC). Final pathology demonstrated carcinoma from gallbladder primary.
Vestibular Function Measured Using the Video Head Impulse Test in Congenital Nystagmus and Vertigo: A Case Report
Authors: Antonio Denia-Lafuente, Belén Lombardero
Journal: Front Neurol (2021)
Keywords: case report, congenital nystagmus, vhit, vertigo, vestibular function
MeSH terms: Case Reports

In patients with congenital nystagmus (CN), the study of vestibular function is complicated by many factors related to the measurement of the vestibulo-ocular reflex (VOR) by means of caloric testing and the video head impulse test (vHIT), and to date no such studies have successfully employed the vHIT to evaluate vestibular function in these patients. We present a case with CN and vertigo in which peripheral vestibular function was evaluated using the vHIT system, including head impulse testing and the suppression head impulse protocol. We show that it is possible (a) to identify lateral VOR changes such as abnormalities resembling those produced by bilateral vestibular lesions, though not necessarily related to the same mechanism; (b) to identify peripheral VOR lesions of the vertical semicircular canals (SCC); and (c) to document compensation and recovery subsequent to these peripheral lesions during follow-up of patients with CN. vHIT is a useful tool that should be used to study vestibular function in patients with CN and vertigo, which could constitute a new clinical application of this technique.
Successful sequential tyrosine kinase inhibitors to overcome a rare compound of EGFR exon 18-18 and EGFR amplification: A case report
Authors: Pascal Wang, Emmanuelle Fabre, Antoine Martin, Kader Chouahnia, Ambre Benabadji, Lise Matton, Boris Duchemann
Journal: Front Oncol (2022)
Keywords: egfr, nsclc, compound mutations, exon 18, tyrosine kinase inhibitor (tki), uncommon mutation
MeSH terms: Case Reports

Background:
New mutational detection techniques like next-generation sequencing have resulted in an increased number of cases with uncommon mutation and compound mutations [3%-14% of all epidermal growth factor receptor (EGFR) mutations]. In rare exon 18 mutations (3%-6%), G719X and E709X represent the majority, but CMut associating these exon 18 points mutations are even rarer, making the understanding of the impact of epidermal growth factor receptor tyrosine kinase inhibitors still limited. Three generations of EGFR tyrosine kinase inhibitors (TKIs) are available to target EGFR mutations, but according to the types of mutations, the sensitivity to TKI is different. Afatinib, osimertinib, and neratinib have showed some effectiveness in single exon 18, but no report has precisely described their efficiency and acquired mechanism of resistance in a CMut of exon 18-18 (G719A and E709A).
Case presentation:
We report a case of a 26-year-old woman with bilateral advanced adenocarcinoma of the lung harboring a compound mutation associating G719A and E709A in exon 18, who developed an EGFR amplification as resistance mechanism to osimertinib. She presented a significant clinical and morphological response under sequential TKIs treatment (afatinib, osimertinib, and then neratinib).
Conclusion:
A non-small cell lung cancer (NSCLC) with rare compound mutation exon 18-exon 18 (G719A and E709A) and EGFR amplification can be overcome with adapted sequential second- and third-generation TKIs. This report has potential implications in guiding decisions for the treatment of these rare EGFR mutations.
Sarcoidosis Presenting as Acute Respiratory Distress Syndrome
Authors: Bilal Haider Lashari, Ahmad Raza, Vincent Chan, William Ward
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Sarcoidosis is a multisystem granulomatous disease of unknown origin. It typically involves the lungs and mediastinal lymph nodes in a chronic fashion. However, acute syndrome has been reported possibly in response to systemic release of proinflammatory cytokines. Acute pulmonary manifestations, especially acute respiratory failure or acute respiratory distress syndrome, remain extremely uncommon in individuals without a prior diagnosis. We present the case of a 41-year-old African American female, who presented with ARDS. An extensive workup into the cause of her illness remained negative, and she subsequently succumbed to her illness. A diagnosis of sarcoidosis was made upon autopsy, after exclusion of other granulomatous illness. The case highlights the need to consider this uncommon diagnosis in patients with unexplained ARDS to guide therapy.
Exceptional and Durable Responses to TDM-1 After Trastuzumab Failure for Breast Cancer Skin Metastases: Potential Implications of an Immunological Sanctuary
Authors: Tommaso Giarratano, Federica Miglietta, Carlo A Giorgi, Vassilena Tsvetkova, Silvia Michieletto, Laura Evangelista, Ilaria Polico, Maria V Dieci, Valentina Guarneri
Journal: Front Oncol (2018)
Keywords: t-dm1, adotrastuzumab, emtansine, immune microenvironment, metastatic breast cancer, skin metastasis
MeSH terms: Case Reports

Breast Cancer (BC) skin metastases represent a challenging clinical scenario. Although they usually arise when other distant metastases are already present, they may also represent a form of locoregional recurrence (LRR). Systemic therapy in this setting may have a role both in case a radical locoregional approach is unfeasible in order to achieve disease control, and as adjuvant strategy after radical removal of cutaneous lesions, in order to prevent or delay subsequent disease spread. Systemic therapy for HER2+ metastatic BC (MBC) currently relies on anti-HER2 targeted agents. In this context TDM1 is an option in trastuzumab-resistant patients.Here we present 2 cases of isolated skin metastases in patients with HER2+ BC progressing during or early after trastuzumab-based therapy, showing impressive responses to TDM1. We hypothesize that the unique properties of skin immune microenvironment may explain the failure of trastuzumab, which exerts its action also through immunological mechanisms, and the subsequent outlier responses to TDM1, that relies on a partially different mechanism of action.
Embryonal rhabdomyosarcoma in mastoid and middle ear in a 3-year-old girl: a rare case report
Authors: Saman Vegari, Alireza Hemati, Hosein Baybordi, Leila Davarimajd, Ghasem Chatrbahr
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Introduction. The most common sarcoma of childhood is rhabdomyosarcoma, approximately 35% of all paediatric rhabdomyosarcomas occur in the head and neck. Case Report. A 3-year-old girl referred to our clinic due to serosanguineous purulent discharge from her right ear. After paraclinical and pathologic evaluation it was diagnosed as embryonic rhabdomyosarcoma. Conclusions. In all children with mastoiditis, especially in young children, rhabdomyosarcoma should be considered as a differential diagnosis.
Fatal Case of Burkholderia gladioli Pneumonia in a Patient With COVID-19
Authors: Sanu Rajendraprasad, Zachary A Creech, Gia Thinh D Truong, Toan Nguyen, Mounika Addula, Neil Mendoza, Manasa Velagapudi
Journal: Ochsner J (2022)
Keywords: burkholderia gladioli, covid-19, cystic fibrosis, pneumonia
MeSH terms: Case Reports

Background: Burkholderia gladioli (B gladioli) is a rare, gram-negative rod that was initially regarded as a plant pathogen. However, B gladioli has been reported as the primary pathogen causing pneumonia in organ transplant recipients and in patients with cystic fibrosis. We report a case of bacterial pneumonia caused by B gladioli in a patient hospitalized for coronavirus disease 2019 (COVID-19). Case Report: A 68-year-old male was admitted for acute hypoxic respiratory failure secondary to COVID-19 pneumonia. He was treated with dexamethasone and convalescent plasma, resulting in improvement in the hypoxemia. However, during the latter part of his inpatient stay, the patient developed pneumonia caused by B gladioli. The isolate of B gladioli was sensitive to meropenem, levofloxacin, and trimethoprim/sulfamethoxazole and intermediate to ceftazidime. He was treated with meropenem and levofloxacin. Despite treatment, the patient developed acute respiratory distress syndrome with multiorgan failure, suffered cardiac arrest, and died. Conclusion: To the best of our knowledge, this case is the first report of B gladioli coinfection in a patient hospitalized for COVID-19 and provides insight into the possible detrimental outcome of B gladioli and COVID-19 coinfection.