OpenMed/multicare-articles huggingface dataset:
Robot-Assisted Laparoscopic Seminal Vesicle Cystadenoma Excision
Authors: Omer Burak Argun, Panagiotis Mourmouris, İlter Tufek, Yesim Saglican, Can Obek, Ali Riza Kural
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

Background:
Cystadenoma is an extremely rare benign tumor of the seminal vesicle. Diagnosis of these tumors and differential diagnosis from malignant ones may be challenging since most of the time symptoms do not occur. Management of these tumors remains debatable due to the limited data in the literature. We present the first robot-assisted laparoscopic excision of a cystadenoma of the seminal vesicle.
Case presentation:
A 48-year-old man presented with diminished ejaculate volume and a 3.5 cm right seminal vesicle mass, which increased its size at 6 cm after the 3-month period. Transrectal ultrasound-guided biopsy revealed no malignancy. Robot-assisted laparoscopic excision of the tumor was performed. Port placement was the same as robot-assisted radical prostatectomy. Operative time and estimated blood loss were 240 minutes and 200 mL, respectively. Patient was discharged on postoperative day 3 without any complications. Final histopathologic examination revealed cystadenoma of the seminal vesicle.
Conclusion:
Surgical intervention may be considered when a cystadenoma of the seminal vesicle is diagnosed and symptoms or tumor growth occurs. Robot-assisted laparoscopic excision is an alternative in the management of these rare tumors.
Safe Skin Management during Open Hepatectomy in a Patient with Recessive Dystrophic Congenital Epidermolysis Bullosa
Authors: Ikuo Watanobe, Hiroko Kida, Yuuki Sekine, Masaya Kawai, Shozo Miyano, Michio Machida, Toshiaki Kitabatake, Hiroyuki Sugo, Yoshifumi Lee, Kuniaki Kojima
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Congenital epidermolysis bullosa is a rare, genetic condition in which even slight stimulation can cause blistering of the skin or mucosa. While previous reports of treatments requiring general anesthesia in these patients were focused on anesthesia-related procedures, such as endotracheal intubation, no report has described specific management required for these patients during surgery, such as preparation of the surgical site, fixation of infusion lines and other tubes, and adjustment of the operation table. This is probably the first report to address these issues. This report presents a case of recessive dystrophic congenital epidermolysis bullosa in which open hepatectomy was safely performed.
Hepatocellular carcinoma treated with radical resection after endoscopic diagnosis of the extent of bile duct invasion: A case report
Authors: Yudai Sato, Tomoko Tadokoro, Hiroki Yamana, Hiraki Akai, Kei Takuma, Naoki Fujita, Mai Nakahara, Kyoko Oura, Koji Fujita, Joji Tani, Hideki Kamada, Asahiro Morishita, Hideki Kobara, Seiko Kagawa, Reiji Haba, Keiichi Okano, Tsutomu Masaki
Journal: DEN Open (2023)
Keywords: eus, bile duct invasion, hepatocellular carcinoma, peroral cholangioscopy, surgery
MeSH terms: Case Reports

Hepatocellular carcinoma invasion of the bile duct is rare and has a poor prognosis. A 77-year-old man presented at the emergency department with persistent pain in the right hypochondrium. Blood tests and imaging studies revealed a 70-mm occupying lesion in the right lobe of the liver and dilated intrahepatic bile ducts. He was diagnosed with obstructive jaundice and cholangitis. Imaging studies showed an internal mass with poor contrast effects. A liver biopsy was performed to confirm the diagnosis and hepatocellular carcinoma was suspected. Endoscopic retrograde cholangiopancreatography, endoscopic ultrasound, and peroral cholangioscopy were performed to determine the treatment strategy. The bile duct invasion did not extend to the porta hepatis; therefore, right hepatic lobectomy and radical resection were performed. Bile duct invasion in hepatocellular carcinoma is rare and often difficult to diagnose by computed tomography or conventional endoscopic retrograde cholangiopancreatography. However, endoscopic ultrasound and peroral cholangioscopy enable safe and accurate diagnosis of the extent of invasion.
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
Authors: Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the ABCC8 gene, inherited from his mother. This mutation has been previously described in patients with Congenital Hyperinsulinism. Furthermore, different mutations in the ABCC8 gene have been linked with MODY 12, type 2, and gestational diabetes; however, to the best of our knowledge, this is the first report that associates this specific mutation with diabetes phenotype. ABCC8-related diabetes is characterized by remarkable heterogeneity in terms of clinical presentation and therapeutic approach. Early diagnosis and individualized treatment are essential to achieving metabolic targets and avoiding long-term diabetes complications.
Neurosyphilis presenting as asymptomatic optic perineuritis
Authors: Sarah E Parker, John H Pula
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Introduction. Syphilis is a sexually transmitted disease that is known as "the great imitator" due to its wide variety of clinical presentations, including ocular disorders. There has been an increase in the rate of syphilis in the United States, especially in persons with HIV. We report a case of optic perineuritis in an asymptomatic male secondary to central nervous system (CNS) syphilis. Case Report. A 41-year-old man was found to have bilateral disc edema on a routine exam. Brain MRI was unremarkable, and lumbar puncture revealed a normal opening pressure, with an elevated cerebrospinal fluid white cell count. Orbit MRI showed optic nerve sheath expansion and enhancement, consistent with optic perineuritis. He tested positive for syphilis based on serum RPR and FTA-ABS. Conclusion. Ophthalmologic findings, including disc edema, may be the presenting features of CNS syphilis. Even in asymptomatic persons, perineuritis should be considered early, as diagnosis and treatment are imperative given the progressive nature of the disease.
An unusual presentation of sixth nerve palsy: neurobrucellosis
Authors: Burak Mergen, Ahmet M Sarici, Fatih Baltu, Resat Ozaras, Ibrahim Adaletli
Journal: GMS Ophthalmol Cases (2019)
Keywords: abducens nerve palsy, meningitis, neurobrucellosis
MeSH terms: Case Reports

Abducens nerve palsy is generally seen in older patients with diabetes and hypertension. It is relatively rare in young and otherwise healthy patients. An extensive differential diagnosis is considered in patients younger than 50 years of age who develop a sixth nerve palsy. We report here a 25-year-old patient from Turkey who was admitted with sixth nerve palsy as a component of neurobrucellosis. She was referred to our clinic because she had double vision and restricted right eye abduction. During the ophthalmic examination, both pupils were round and reactive to light and accommodation. Extraocular movements were intact with the exception that the right eye was unable to abduct. Magnetic resonance imaging revealed no pathology. She also had a diagnosis of brucellosis and her abducens nerve palsy was a form of clinical manifestation of neurobrucellosis. We conclude that neurobrucellosis should be considered in patients with sixth cranial nerve palsy especially in areas where brucellosis is endemic.
Disabling osteomalacia and myopathy as the only presenting features of celiac disease: a case report
Authors: Costantine Albany, Zhanna Servetnyk
Journal: Cases J (2009)

Background:
Celiac disease is an autoimmune inflammatory disease of the small intestine precipitated by the ingestion of gluten, a component of wheat protein, in genetically susceptible persons. Classically, the disease manifests with diarrhea, weight loss and anemia. There are very few reports of osteomalacia as the presenting symptom, and even fewer of osteomalacia as the only symptom of celiac disease at presentation.
Case presentation:
In this case report we describe a 40 year-old patient who presented with 6 months history of progressively worsening and disabling osteomalacia as the only presentation of a celiac disease. With adherence to a gluten-free diet and calcium-vitamin D supplementation, the patient's condition improved remarkably within three months and she was able to walk pain free.
Conclusion:
Celiac disease frequently is under diagnosed or misdiagnosed which results in unnecessary morbidity such as disabling osteomalacia. Therefore, early diagnosis of celiac disease is important because the symptoms completely resolve with adequate treatment.
Fracture of the Body of the Hamate With Dorsal Dislocation of the 4th and 5th Metacarpals: A Case Report
Authors: Vasilis Athanasiou, Ilias D Iliopoulos, Konstantinos Pantazis, Andreas Panagopoulos
Journal: Open Orthop J (2017)
Keywords: dorsal dislocation, fracture, hamate body, internal fixation, metacarpals, missed injury

Background:
Solitary fractures of the body of the hamate are rare. Their diagnosis is difficult and requires a high clinical suspicion and a proper radiological examination.
Case report:
We present a case of a 36-year-old male patient who sustained an intraarticular fracture of the body of the hamate along with dorsal dislocation of the 4th and 5th metacarpals on his right dominant hand. Through a dorsal surgical approach, he underwent ORIF of the hamate with screws and stabilization of the dislocated 4th and 5th metacarpals with KW. At his last follow-up appointment, 18 months postoperatively, he had no pain, almost full range of motion on his fingers and a Mayo Wrist score of 90 points.
Conclusions:
Hamate fractures are rare entities that can cause significant patient morbidity if not recognized and treated appropriately.
Unusual Localization of an Emergent Bacterium, Raoultella ornithinolytica
Authors: Michele Cavaliere, Guido Bartoletti, Pasquale Capriglione, Antonella Miriam Di Lullo, Gaetano Motta, Maurizio Iengo, Elena Cantone
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Raoultella ornithinolytica is a bacterium belonging to the family Enterobacteriacae. It is a rare but emergent cause of human pathologies especially in immunocompromised patients. We described the first case in the literature of isolated external otitis sustained by Raoultella ornithinolytica in an immunocompetent host. A 54-year-old Caucasian man with a history of previous myringoplasty came to our attention reporting otalgia and otorrhea. We performed right ear swab for culture examination, meanwhile we started empirical therapy with topic administration of neomycin, without any clinical improvement. The cultural examination showed the presence of a Raoultella ornithinolytica infection. After ten days of treatment with oral ciprofloxacin and topic levofloxacin, there was the complete resolution of pain and inflammation. Raoultella ornithinolytica must be taken into consideration as an emergent cause of human infection, also in case of external otitis. Infection can be severe and can occur both in immunocompromised and in immunocompetent hosts. Culture test is mandatory to choose the proper therapy and avoid potential severe complications.
A Case of Biliary Tract Infection Caused by KPC-2-Producing Kluyvera ascorbata
Authors: Lu Wang, Ying Jing, Kaisheng Lai, Jingna An, Jiyong Yang
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Kluyvera spp. can cause various infections. However, carbapenemase-producing Kluyvera spp. has not been previously reported. We report a case of biliary tract infection caused by KPC-2-producing K. ascorbata in a 13-year-old female. To the best of our knowledge, this is the first report on infection caused by carbapenemase-producing Kluyvera spp.
MRI Findings of Syndrome of Acute Bilateral Symmetrical Basal Ganglia Lesions in Diabetic Uremia: A Case Report and Literature Review
Authors: Xin Cao, Qiang Fang, Hao Shi
Journal: Case Rep Radiol (2016)

The syndrome of acute bilateral basal ganglia lesions is an uncommon clinical occurrence exhibiting acute onset of movement abnormalities, which can be seen almost exclusively among patients with chronic renal failure, especially in the setting of concurrent diabetes mellitus. Symmetrical lesions located in basal ganglia demonstrated in MRI are typical manifestation of this syndrome. Our study includes routine MRI examination, MRS, 3D-ASL, and SWI findings, which have been rarely reported and will contribute to diagnosing more cases about this syndrome.
Periapical Microsurgery with an Endoscope and Microscope of Two Upper Central Incisors Already Subjected to Periapical Surgery 25 Years Ago
Authors: Pablo Glera-Suarez, Blanca Serra-Pastor, David Peñarrocha-Oltra, Miguel Peñarrocha-Diago, Cosme Gay-Escoda
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Introduction:
The present clinical case describes periapical microsurgery with an endoscope and microscope in a patient already treated 25 years ago due to persistent periapical disease of the two central upper incisors, restored with poorly adapted crowns. Clinical Case. The first periapical surgery had been performed with silver amalgam as a retrograde filler material, causing grayish staining of the buccal mucosa. Periapical surgery was performed raising a submarginal flap with ostectomy and apicoectomy, retrograde cavity preparation with ultrasound tips, and filling with mineral trioxide aggregate (MTA). After soft tissue healing and complete bone regeneration of the lesion, retreatment of the incisors with a fixed prosthesis was carried out, adopting the biologically oriented preparation technique (BOPT).
Conclusions:
The described periapical microsurgery approach with magnification and illumination of the surgical field was found to be effective, avoiding the need to extract the two central upper incisors.
Spontaneous Pneumomediastinum, Pneumoperitoneum, and Subcutaneous Emphysema beyond the Inguinal Ligament Secondary to Inversion Maneuvers
Authors: Keegan Plowman, David Lindner, Jose Ruben Valle-Giler
Journal: Case Rep Pulmonol (2022)
MeSH terms: Case Reports

Pneumomediastinum is free air within the mediastinal cavity which can spread along tissue planes leading to the accumulation of large amounts of subcutaneous emphysema. Patient is a 21-year-old male with a history of autism spectrum disorder and rhabdomyolysis who presented with diffuse "popping under the skin" and was found to have crepitus extending from his neck to his bilateral ankles. He exercises frequently and performs chin-up pullovers and will often hold his breath during this movements. He uses an inversion table but denies any valsalva maneuvers or straining while inverted. Radiological imaging demonstrated pneumomediastinum, pneumoperitoneum, and diffuse subcutaneous emphysema extending into the pelvis. Diagnosis requires a combination of history, physical exam findings, and imaging findings. Patients with spontaneous pneumomediastinum typically experience self-limited disease, and efforts should be made to minimize low yield invasive testing. Most patients can be treated on an outpatient basis after monitoring and education about potential complications.
Case report: Sotrovimab, remdesivir and nirmatrelvir/ritonavir combination as salvage treatment option in two immunocompromised patients hospitalized for COVID-19
Authors: Federico Baldi, Chiara Dentone, Malgorzata Mikulska, Daniela Fenoglio, Michele Mirabella, Federica Magnè, Federica Portunato, Tiziana Altosole, Chiara Sepulcri, Daniele Roberto Giacobbe, Chiara Uras, Graziana Scavone, Lucia Taramasso, Andrea Orsi, Giuseppe Cittadini, Gilberto Filaci, Matteo Bassetti
Journal: Front Med (Lausanne) (2023)
Keywords: covid-19, immunocompromised, monoclonal antibodies, nirmatrelvir/ritonavir, remdesivir, salvage therapy, sotrovimab
MeSH terms: Case Reports

COVID-19 in immunocompromised patients is difficult to treat. SARS-CoV-2 interaction with the host immune system and the role of therapy still remains only partly understood. There are no data regarding the use of monoclonal antibodies and the combination of two antivirals in fighting viral replication and disease progression. We report the cases of two patients, both treated with rituximab for non-Hodgkin lymphoma and granulomatosis with polyangiitis, respectively, and both hospitalized for COVID-19 with positive SARS-CoV-2 RNAemia, who were successfully treated with a salvage combination therapy with sotrovimab, remdesivir and nirmatrelvir/ritonavir.
Complete Response to R-EPOCH in Primary Cardiac Lymphoma
Authors: Kartik Anand, Sai Ravi Pingali, Barry Trachtenberg, Swaminathan Padmanabhan Iyer
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Primary cardiac lymphoma (PCL) is a rare extranodal lymphoma involving only the heart and/or the pericardium. Most common presenting signs and symptoms are nonspecific including dyspnea, pericardial effusion, and arrhythmia. Prognosis of PCL patients remain poor compared to non-cardiac lymphoma patients. Since most of the information about PCL comes from case reports or case series, there is no treatment consensus. Anthracycline containing chemotherapy remains main treatment modality which is potentially cardiotoxic. We present a case of PCL that achieved complete remission using R-EPOCH (rituximab, etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin). We also used dexrazoxane in an effort to reduce cardiotoxicity of chemotherapy.
Case report: Robust response of metastatic clear cell sarcoma treated with cabozantinib and immunotherapy
Authors: Rakefet Sidlik Muskatel, Nir Pillar, Jeremy Godefroy, Michal Lotem, Gal Goldstein
Journal: Front Pediatr (2022)
Keywords: ewsr1-atf1 translocation, met inhibitor, cabozantinib, clear cell sarcoma, immunotherapy
MeSH terms: Case Reports

Clear Cell Sarcoma (CCS), also referred to as malignant melanoma of soft parts, is a rare and aggressive malignant tumor. It comprises 1% of all soft tissue sarcomas and is known to be radio- and chemotherapy resistant. CCS shares morphological and immunohistochemical features with malignant melanoma, including melanin biosynthesis and melanocytic markers. However, it is distinct for the presence of EWSR1-ATF1 translocation which activates MITF transcription factor. We report here of an aggressive case of CCS in a 9-year-old patient, which demonstrates the critical role of molecular analysis in the diagnosis and treatment of uncommon cancer variants in the era of personalized medicine. The EWSR1-ATF1 translocation induces pathological c-Met activation, and so, following unsuccessful CTLA4 and PD-1 blockade immunotherapy, the child received cabozantinib, a small molecule tyrosine kinase inhibitor, with the intent to block c-Met oncogenic effect. In parallel, active immunization, using hapten di-nitrophenyl modified autologous tumor cells was administered with monotherapy PD-1 inhibitor nivolumab. Under this "triplet" therapy, the patient attained an initial partial response and was progression-free for 2 years, in good performance status and resumed schooling. Based on our observation, cabozantinib can be used as an effective and potentially life-prolonging treatment in CCS. We suggest that priming the child's immune system using her autologous tumor and combating T cell exhaustion with PD-1 blockade may have synergized with the targeted therapy. Combining targeted and immunotherapy is a rapidly growing practice in solid tumors and provides a glimpse of hope in situations that previously lacked any treatment option.
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation
Authors: Rita Genesio, Angela Mormile, Maria Rosaria Licenziati, Daniele De Brasi, Graziella Leone, Sara Balzano, Antonella Izzo, Ferdinando Bonfiglio, Anna Conti, Gennaro Fioretti, Selvaggia Lenta, Maria Rita Poggiano, Paolo Siani, Lucio Nitsch
Journal: Mol Cytogenet (2015)
Keywords: chromosomal position effect, diaph2, fmr1, primary ovarian insufficiency, turner syndrome, x chromosome translocation, x, autosome translocation
MeSH terms: Case Reports

Background:
Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI.
Results:
Cytogenetic analysis demonstrated a balanced reciprocal translocation between the q arms of chromosomes X and 1, with breakpoints falling in Xq21 and 1q41 bands. Molecular studies did not unravel any chromosome microdeletion/microduplication, and no XIST-mediated inactivation was found on the derivative chromosome 1. Interestingly, through immunofluorescence assays, we found that part of the Xq21q22 trait, translocated to chromosome 1q41, was late replicating and therefore possibly inactivated in 30 % metaphases both in lymphocytes and skin fibroblasts, in addition to a skewed 100 % inactivation of the normal X chromosome. These findings suggest that a dysregulation of gene expression might occur in this region. Two genes mapping to the Xq translocated region, namely DIAPH2 and FMR1, were found overexpressed if compared with controls.
Conclusions:
We report a case in which gonadal dysgenesis and POI are associated with over-expression of DIAPH2 gene and of FMR1 gene in wild type form. We hypothesize that this over-expression is possibly due to a phenomenon known as "chromosomal position effect", which accounts for gene expression variations depending on their localization within the nucleus. For the same effect a double mosaic inactivation of genes mapping to the Xq21-q22 region, demonstrated by immunofluorescence assays, may be the cause of a functional Xq partial monosomy leading to most Turner traits of the proband's phenotype.