OpenMed/multicare-articles huggingface dataset:
Multimodal Imaging of Subfoveal Pachydrusen Containing a Blood Flow Signal
Authors: Naoko Ishiguro, Takaaki Hayashi, Yoshiko Yamawaki, Kei Mizobuchi, Tsutomu Yasukawa, Shigeru Honda, Tadashi Nakano
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Individuals with pachydrusen, larger than 125 μm, have a significantly thicker choroid than do those with soft drusen or reticular pseudodrusen. Little is known about cases of abnormal blood flow within pachydrusen. The purpose of this report was to demonstrate a blood flow signal within pachydrusen using optical coherence tomography (OCT) angiography. A 76-year-old Japanese woman presented with innumerable drusen/pachydrusen in both posterior poles. Her visual acuity was good. OCT showed subfoveal pachydrusen in the left eye, but no exudative changes. The subfoveal choroidal thickness was increased to 274 μm in the left eye. OCT angiography revealed a blood flow signal within the pachydrusen. However, fluorescein and indocyanine green angiographies indicated no abnormal hyperfluorescent lesion in the macula of the left eye. During the 13-month follow-up, the blood flow signal in OCT angiography did not change in diameter, and no exudative change was observed. The blood flow signal may have properties of capillary blood vessels derived from the choriocapillaris, rather than angiogenic vessels from choroidal neovascularization or polypoidal choroidal vasculopathy/aneurysmal type 1 neovascularization.
Nivolumab-Induced, Late-Onset, Steroid-Sensitive, High-Grade Pneumonitis and Durable Tumor Suppression in Metastatic Renal Cell Carcinoma: A Case Report
Authors: Vincent Louie Mendiola, Meghana Kesireddy, Bagi Jana
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Nivolumab, an antiprogrammed death-1 checkpoint inhibitor, has been approved for use in unresectable/metastatic renal cell carcinoma (RCC). Nivolumab-induced pneumonitis, a rare, but often severe and potentially life-threatening immune-related adverse event, has been reported, typically, early during the treatment. Due to its low incidence, more studies are needed to better elucidate this condition and its possible effects on cancer progression. We now present a 57-year-old Hispanic male patient with metastatic RCC-clear cell type who, after his 34th cycle of nivolumab (16 months after being on nivolumab), developed a late-onset, immune-related adverse event (IRAE) including a grade 3 pneumonitis, which resolved completely, clinically, and on serial lung imaging with steroids and drug discontinuation. His cancer remained stable with no progression for 18 months despite discontinuation of nivolumab which showed tumor progression resistance. This case report is aimed at providing further information regarding the rare phenomena of a late-onset IRAE, in particular, a grade 3 nivolumab-induced pneumonitis which also responded rapidly to treatment, as well as at discussing this immunotherapy's durable tumor suppressive effect and a possible associated factor to this phenomenon.
The Role of Acetyl Cysteine in Cocaethylene (Non-Acetaminophen) Acute Liver Failure
Authors: Getaw Worku Hassen, Amaninder Dhaliwal, Catherine Ann Jenninigs, Hossein Kalantari
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Background:
Acute liver failure can result from acetaminophen overdose, viral infection, toxins, and other disease conditions. Liver transplant is available in limited fashion and the criteria are strict as to who should get an available liver. N- Acetyl Cysteine (NAC) has been used in non-acetaminophen induced liver failure with success. Here we report a case of acute liver failure from cocaethylene that was reversed with NAC along with other medical therapy.
Case presentation:
A 50-year-old female patient presented to the Emergency Department (ED) with a two-day history of coffee ground vomiting and hematemesis. She reported occasional substance abuse and heavy alcoholism. She reported shortness of breath and chest pain from the recurrent forceful vomiting. The rest of the review of systems was unremarkable except a fall from intoxication. Physical examination revealed anicteric conjunctiva and nontender abdomen and her vital signs were within normal limits. Initial blood work revealed acute liver and renal failure. The patient was started with general medical management and liver transplant service rejected the case due to active substance abuse. She underwent brief hemodialysis and was started on NAC. Over the course of her hospital stay her liver function and kidney function improved significantly and patient was discharged to home.
Conclusion:
In cases where liver transplant is not an option for various reasons including active substance abuse, a trial of N-Acetyl Cysteine may be beneficial and should be considered in the Emergency Department.
Unilateral Giant Hydronephrosis Secondary to Ureteropelvic Junction Obstruction in a Middle-Aged Woman
Authors: Masresha S Dino, Seid M Hassen, Tesfaye H Tufa
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

Background:
Giant hydronephrosis is a rare urologic problem defined as a collection of more than one liter of urine in the collecting system. The radiologic appearance may mimic benign cystic disease of the kidney. We report a case of giant hydronephrosis in a 32-year-old female who presented with progressive abdominal swelling of two-year duration, caused by ureteropelvic junction obstruction with more than nine liters of urine in the collecting system.
Conclusion:
Giant hydronephrosis is a rare differential diagnosis for cystic intra-abdominal mass in adults with progressively increasing abdominal swelling. CT and MRI are important in confirming the diagnosis by localizing the origin of the swelling. Management depends on the underlying cause and appearance of the diseased kidney.
Envenomation by the red-tailed coral snake ( Micrurus mipartitus) in Colombia
Authors: Carlos A Cañas, Fernando Castro-Herrera, Santiago Castaño-Valencia
Journal: J Venom Anim Toxins Incl Trop Dis (2017)
Keywords: colombia, micrurus mipartitus, red-tailed coral snake, snake envenomation
MeSH terms: Case Reports

Background:
Although the red-tailed coral snake (Micrurus mipartitus) is widely distributed in Colombia and its venom is highly neurotoxic and life threatening, envenomation by this species is rare. Therefore, this report may shed some light on the clinical presentation of M. mipartitus bites.
Case presentations:
Herein, we describe two cases of patients bitten by red-tailed coral snakes, illustrating the clinical presentation of the victims, the outcomes and treatment provided.
Conclusion:
Envenomation caused by M. mipartitus provokes predicable neurotoxicity, and its treatment should be based on respiratory support and use of specific antivenom.
Spirochetes in the Liver: An Unusual Presentation of a Common STI
Authors: Natasha Narang, Layth Al-Jashaami, Nayan Patel
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

It is estimated that 10% of patients with secondary syphilis have liver enzyme elevations, but clinical hepatitis is rare. However, in HIV-positive patients, syphilitic hepatitis may be much more common. We report a case of a 67-year-old male who developed progressively elevated liver enzymes, followed by development of neurological symptoms and then rash. Though the timeline of his symptom development was unusual, his constellation of symptoms prompted an RPR and FTA-ABS which returned reactive. He was additionally found to be HIV positive with a CD4 count of 946. He was treated with IV Penicillin, and his hepatitis improved thereafter.
Case report: Eosinophilic fasciitis induced by pembrolizumab with high FDG uptake on 18F-FDG-PET/CT
Authors: Karim Amrane, Coline Le Meur, Philippe Thuillier, Pierre Alemany, Clémence Niel, David Renault, Ronan Abgral
Journal: Front Med (Lausanne) (2022)
Keywords: 18f-fdg-pet/ct, ici, nsclc, eosinophilic fasciitis, pembrolizumab
MeSH terms: Case Reports

Eosinophilic fasciitis (EF) is a rare connective tissue disorder causing inflammation and fibrosing of fascia. In this study, we present a very rare case of an immune checkpoint inhibitor (ICI)-induced EF revealed by 18F-fluorodesoxyglucose positron emission tomography (FDG-PET/CT) 20 months after the initiation of Pembrolizumab treatment of a relapsed non-small cell lung cancer (NSCLC). This study presents a 52-year-old Caucasian woman clinically presenting asthenia, inflammatory muscle, and joint pain associated with subcutaneous nodules and symmetrical edema of the lower limbs. Iterative 18FDG-PET/CT scans allow us to guide the therapeutic strategy due to this atypical ICI adverse event.
Mandibular Metastasis of Silent Papillary Thyroid Carcinoma: A Rare Case Report with Review of the Literature
Authors: Shahzad Gholami, Mahin Bakhshi, Saede Atarbashi-Moghadam, Hassan Mir Mohammad Sadeghi, Arezoo Rahimzamani
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Metastasis to the jaws is a rare event; however, it has great importance because it may be the only symptom of an undiagnosed underlying malignancy. Papillary thyroid carcinoma, the commonest histopathologic variant of thyroid cancer, has minimal potential for distant metastasis, and most reported metastatic thyroid carcinomas of the oral cavity have been follicular thyroid carcinoma. The aim of this article is to present a rare case of metastatic papillary thyroid carcinoma, which presented itself as a painless expansion in the anterior region of the mandible in a 56-year-old female, and to review previously published cases of this type of cancer. Reporting rare cases such as this one, together with reviewing previous reports of related rare diseases, will expand the body of knowledge about these uncommon lesions.
Small Bowel Ischemia due to Jejunum Volvulus in Pregnancy: A Case Report
Authors: Ioannis Vassiliou, Aliki Tympa, Michalis Derpapas, Georgios Kottis, Nikolaos Vlahos
Journal: Case Rep Obstet Gynecol (2012)

The diagnosis of intestinal obstruction in pregnancy is difficult, as the symptoms may mimic pregnancy-associated complaints. The surgical management is challenging, as the mortality rate of midgut volvulus in pregnancy is high. We report the case of a 35-year-old woman at 21 weeks and 5 days of gestation with small bowel obstruction who presented to our institution with a 24 h history of colicky abdominal pain and nausea and who finally had a successful open repair.
Diagnosing a gastric submucosal tumor using jumbo biopsy "unroofing" technique: a case report and review of the literature
Authors: Sakshi Kapur, Pradeep Mahal, Levin Miles, Adnan Hussain
Journal: Case Rep Oncol Med (2013)

We report a case of a 40-year-old female who presented with dyspeptic symptoms for six months. Upper GI endoscopy revealed a submucosal nodule in gastric antrum. Using "jumbo biopsy unroofing technique" we were able to get adequate tissue for analysis. Histopathology revealed a type III gastric carcinoid. Patient was treated with laparoscopic distal subtotal gastrectomy with Roux-en-Y reconstruction and partial omentectomy. Although there was no evidence of metastasis on initial presentation, eighteen months later, patient was found to have multiple metastatic lesions in her liver. Patient's lesions were treated with intra-arterial (hepatic artery) Yttrium-90.
Tapia's syndrome: pathogenetic mechanisms, diagnostic management, and proper treatment: a case series
Authors: Paolo Cariati, Almudena Cabello, Pablo P Galvez, Dario Sanchez Lopez, Blas Garcia Medina
Journal: J Med Case Rep (2016)
MeSH terms: Hypoglossal Nerve Diseases / etiology, Intubation, Intratracheal / adverse effects, Vagus Nerve Diseases / etiology, Case Reports, Adult, Deglutition Disorders / etiology, Deglutition Disorders / rehabilitation, Dysphonia / etiology, Endoscopy, Humans, Hypoglossal Nerve Diseases / diagnosis, Hypoglossal Nerve Diseases / rehabilitation, Male, Middle Aged, Neurologic Examination, Syndrome, Vagus Nerve Diseases / diagnosis, Vagus Nerve Diseases / rehabilitation

Background:
Tapia's syndrome is an uncommon disease described in 1904 by Antonio Garcia Tapia, a Spanish otolaryngologist. It is characterized by concomitant paralysis of the hypoglossal (XIIth) and pneumogastric (Xth) nerves. Only 69 cases have been described in the literature. Typically, the reported patients presented with a history of orotracheal intubation. Common symptoms are dysphonia, tongue deviation toward the affected side, lingual motility disturbance, and swallowing difficulty.
Case presentation:
In the report, we describe three cases of Tapia's syndrome in three Caucasian patients who underwent surgery with general anesthesia. Two of these patients underwent neck abscess drainage, and the third had an open reduction of a shoulder fracture. The clinical symptoms of Tapia's syndrome appeared after extubation. All three of our patients recovered their lost function at 3 months after diagnosis.
Conclusions:
We underline the importance of performing airway endoscopy and a specific program of swallowing rehabilitation for the proper management of Tapia's syndrome.
Giant cell tumor of the temporal bone with direct invasion into the middle ear and skull base: a case report
Authors: Takashi Iizuka, Masayuki Furukawa, Hisato Ishii, Misato Kasai, Chieri Hayashi, Hajime Arai, Katsuhisa Ikeda
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Giant cell tumor (GCT) is classified as a benign bone tumor, and it is frequently identified at the epiphysis of long bones and relatively rare in the temporal bone. For orthopedists expert at recognizing bone and soft tissue tumors, the diagnosis of GCT is relatively easy; however, since head and neck surgeons experience few cases of GCT, it may be difficult to diagnose when it occurs in the temporal bone. A 32-year-old man complained of left hearing loss, aural fullness, and tinnitus. Examination of the ear revealed a bulging tumor. Audiologic examination demonstrated conductive hearing loss of the left ear. Computer tomograph of the temporal bone showed a soft-tissue-density specification indicating bone destruction at the left temporal bone. The tumor invaded the skull base. Imaging examinations using magnetic resonance imaging revealed a nonhomogenous isosignal intensity area on T1 at the left temporal bone. After intravenous gadolinium, the mass showed unequal enhancement. This patient subsequently underwent surgery to remove the lesion using transmastoid and middle fossa approach. Pathological examinations from specimens of the tumor revealed characteristic of GCT. No clinical or radiological evidence of tumor recurrence was detected for 4 years.
A Rare Complication of Fine-Needle Aspiration of Neck Structures
Authors: Yazeed M Qadadha, Nainika Nanda, Chad Ennis, Timothy McCulloch
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Fine-needle aspiration (FNA) is a generally accepted tool for safe diagnostic evaluation in the workup of lesions and masses. Aside from the commonly discussed risks of infection and minor bleeding related to skin puncture, other more serious complications have been reported sparingly. We present two cases of pneumothorax from FNA of neck structures, which have been theorized but not previously reported to our knowledge. Discussion of cases of this complication rather than solely a theoretical understanding of it will aid in diagnosis and management of this complication.
A Connexin Gene ( GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update
Authors: Yajuan Gao, Qianli Zhang, Shiyu Zhang, Lu Yang, Yaping Liu, Yuehua Liu, Tao Wang
Journal: Front Genet (2022)
Keywords: gjb3, connexin gene, erythrokeratodermia variabilis, ichthyosis, nonsyndromic hearing loss

Background: Gap junctions formed by connexins are channels on cytoplasm functioning in ion recycling and homeostasis. Some members of connexin family including connexin 31 are significant components in human skin and cochlea. In clinic, mutations of connexin 31 have been revealed as the cause of a rare hereditary skin disease called erythrokeratodermia variabilis (EKV) and non-syndromic hearing loss (NSHL). Objective: To determine the underlying genetic cause of EKV, ichthyosis and NSHL in three members of a Chinese pedigree and skin histologic characteristics of the EKV patient. Methods: By performing whole exome sequencing (WES), Sanger sequencing and skin biopsy, we demonstrate a Chinese pedigree carrying a mutation of GJB3 with three patients separately diagnosed with EKV, ichthyosis and NSHL. Results: The proband, a 6-year-old Chinese girl, presented with demarcated annular red-brown plaques and hyperkeratotic scaly patches on her trunk and limbs. Her mother has ichthyosis with hyperkeratosis and geographic tongue while her younger brother had NSHL since birth. Mutation analysis revealed all of them carried a heterozygous missense mutation c.293G>A of GJB3. Skin biopsy showed many grain cells with dyskeratosis in the granular layer. Acanthosis, papillomatosis, and a mild superficial perivascular lymphocytic infiltrate were observed. Conclusion: A mutation of GJB3 associated with EKV, ichthyosis and NSHL is reported in this case. The daughter with EKV and the son with NSHL in this Chinese family inherited the mutation from their mother with ichthyosis. The variation of clinical features may involve with genetic, epigenetic and environmental factors.
Primary hydatid cyst of the axillary region: a case report
Authors: Mehrangiz Zangeneh, Mahmood Amerion, S Davar Siadat, Mohsen Alijani
Journal: Case Rep Med (2012)

Introduction. Hydatid disease is a disease caused by the cestode Echinococcus. Echinococcus granulosus is the most common Echinococcus species affecting human. It may affect any organ and tissue in the body, most in the liver and lung. Disease is endemic in some regions of the world, and is common in Iran. Primary hydatid cyst of the axillary region is an unusual and rare localization of hydatid disease. So far, only sixteen cases have been published in the all medical literature. Case Report. Herein, we present a 33-year-old woman because of a mass in the axillary region of four months duration. Axillary ultrasonography showed a thick wall cystic lesion. No abnormality was found in mammographic examination of either breast, or in abdominal ultrasonography and chest X-ray. The mass was excised for pathological examination that showed a typical laminated membrane of hydatid cyst. Postoperative IgG- ELISA serology in this case was negative. Based on pathology an axillary hydatid cyst was diagnosed. Conclusion. Hydatid cyst should be considered in endemic areas in patients presenting with a soft tissue mass in the axillary region.
A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis
Authors: Jean-Emmanuel Kurtz, Irène Asmane, Anne-Claire Voegeli, Agnès Neuville, Armelle Dufresne, Valère Litique, Christine Chevreau, Jean-Pierre Bergerat
Journal: Sarcoma (2010)
MeSH terms: Case Reports

Aggressive fibromatosis (AF) or desmoid tumor is a rare condition, characterized by deep tissue invasion by a monoclonal fibroblastic neoplasm, developed from musculoaponeurotic structures. Surgery is the treatment of choice, but negative margins can hardly been achieved in large tumors, and can lead to major functional disability. AF medical therapy includes nonsteroids anti-inflammatory drugs, tamoxifen, with inconsistent results. Several reports of imatinib efficacy in AF appear in the literature. Here, we describe for the first time a V530I KIT exon 10 mutant that was associated to a dramatic imatinib response in an extraabdominal aggressive fibromatosis. The previously discovered V530I substitution was characterized in the core binding factor AML, but had never been reported in any other condition, so far. In this paper, we discuss the KIT exon 10 mutations or polymorphisms that have been described in a variety of KIT-related conditions, including acute myelogenous leukemia, mastocytosis, and aggressive fibromatosis.
Synchronous Acute Acalculous Cholecystitis and Appendicitis Due to Salmonella Group D: A Rare Case Report From China and Review of the Literature
Authors: Yan Zhao, Lijun Zhang, Fanfan Xing, Ruiping Zhang, Jinxian Huang
Journal: Front Med (Lausanne) (2020)
Keywords: salmonella, acute acalculous cholecystitis, appendicitis, gout, next-generation sequencing
MeSH terms: Case Reports

Non-typhoidal Salmonella (NTS) disease is not common as typhoid fever but has become a global public health problem in recent decades. Acute acalculous cholecystitis (AAC) and appendicitis are rare complications of NTS infection, which are usually difficult to be diagnosed with atypical signs. Pathogenesis of NTS-induced AAC and NTS-induced appendicitis is still unclear. Ultrasound is the first choice for diagnosis of these two rare complications, computed tomography can assist in and next-generation sequencing (NGS), as a new technology in clinical medicine, also facilitates diagnosis. We described a case of simultaneous AAC and appendicitis due to NTS in an elderly male and further confirmed the diagnosis using NGS. As far as we know, this is the first Asian case of two complications occurring at the same time. Our aim is to alert physicians to pay attention to this rare condition.
Successful Modified Therapy in a Patient with Probable Infection-Associated Hemophagocytic Lymphohistiocytosis
Authors: Carl L Kay, Matthew J Rendo, Paul Gonzales, Sead G Beganovic, Magdalena Czader
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare, hyperinflammatory syndrome characterized by clinical signs and symptoms of extreme inflammation. In adults, HLH is typically a complication of infections, autoimmune diseases, and malignancies. While the disease is often fatal, classic management of HLH revolves around early diagnosis and initiation of protocolized therapy. We present a case of a previously healthy 56-year-old female who developed distributive shock requiring intubation, vasopressors, and continuous venovenous hemofiltration. In the setting of multiple infectious syndromes, severe cytopenias, and rising direct hyperbilirubinemia, her diagnosis of HLH was confirmed. Therapy was initiated with dexamethasone and two doses of reduced-intensity etoposide based on the patient's clinical course. Over the next few weeks, she continued to improve on dexamethasone monotherapy and has maintained remission up to the present with complete resolution of her cytopenias and return of baseline renal function. Our case highlights the variability in the management of probable infection-associated HLH (IHLH) with a good patient outcome. We demonstrate the potential to treat IHLH with partial protocols and minimal chemotherapeutics.
Novel Technique of Surgical Management of Scimitar Syndrome
Authors: Mary Lark, Amanda Cai, Phillip Rideout, David Gregg, Pal Suranyi, Fred A Crawford, Valerian L Fernandes
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Scimitar syndrome is a rare congenital abnormality resulting from right-sided pulmonary venous return to the inferior vena cava rather than to the left atrium. It is usually detected in early childhood with symptoms of recurrent chest infection and finding of pulmonary hypertension due to left to right shunt. We report a case of a 40-year-old woman with scimitar syndrome discovered on chest X-ray during evaluation of recurrent pneumonia. Surgical correction was achieved with a novel technique of using a synthetic graft connecting the scimitar vein across the right atrium to the left atrium along with ligation of the scimitar vein connection to the inferior vena cava. The patient continues to do well 10 years after surgery, and the shunt graft shows good flow on echocardiogram. We present her clinical and imaging data and details of the surgical technique along with a brief review of surgical literature.