OpenMed/multicare-articles huggingface dataset:
Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer
Authors: Wei Huang, Jin Bian, Xiaoping Qian, Lin Shao, Haiyan Li, Lu Zhang, Lin Wang
Journal: Front Oncol (2021)
Keywords: adenomatous polyposis coli (apc) gene, breast cancer susceptibility (brca) gene, double germline mutations, familial adenomatous polyposis (fap), next generation sequencing (ngs)
MeSH terms: Case Reports

Deleterious mutations in APC gene cause the autosomal dominant familial adenomatous polyposis (FAP) which is typically characterized by the occurrence of hundreds to thousands of colorectal adenomas that eventually lead to colorectal cancers (CRCs). BRCA1/2 are the two major susceptibility genes for breast and ovarian cancers. Here, we reported a coinheritance of mutations in APC and BRCA1 genes in a 20-year-old CRC patient with typical clinical features for FAP. Multiple relatives in the family of the patient were affected by colorectal and other cancers. Next-generation sequencing analysis using a panel consisting of 53 hereditary cancer related genes revealed a maternally inherited APC (exon15cn_del) mutation and a paternally inherited BRAC1 (p.lle1824AspfsX3) mutation. This is the first coexistence of APC and BRCA1 mutations in a CRC patient with the mutation inheritance pattern comprehensively characterized in the family. The patient underwent a colonoscopy and a subtotal colectomy and was subsequently diagnosed with colonic adenocarcinomas accompanied with hundreds of tubulovillous adenomas. The case reveals the scenario where two disease-causing mutations of different hereditary tumor syndromes coexist, and illustrates the importance of evaluating detailed family history and performing a multiple-gene panel test in patients with hereditary cancer.
Distal ureteral stone formation over migrated Hem-o-lok clip after robot-assisted partial nephrectomy
Authors: Murat Can Kiremit, Ersin Koseoglu, Omer Acar, Mert Kilic, Yakup Kordan, Abdullah Erdem Canda, Mevlana Derya Balbay, Tarık Esen
Journal: Int J Surg Case Rep (2019)
Keywords: case reports, clips, minimally invasive surgery, urinary lithiasis

Introduction:
Hem-o-lok clip migration into the ipsilateral collecting system and formation of a distal ureteral stone after robot-assited partial nephrectomy (PN) is a rare condition of stone disease.
Presentation of case:
A 48-year-old male presented with hematuria. Physical examination was unremarkable. Urinalysis showed presence of red blood cells. Serum multiple analysis and ultrasonography were within normal limits. Contrast enhanced abdominal computerized tomography scan revealed an 8-mm right distal ureteral stone, which was not associated with ipsilateral hydronephrosis.
Discussion:
With the widespread adoption of minimally invasive surgery, it is not uncommon to utilize foreign bodies as surgical facilitators which also have the potential to migrate to the urothelium-lined urinary tract and act as a stone nidus when used for endoscopic PN CONCLUSION: Clinicians should be aware of the possibility of migrated hem-o-lok clips serving as a nidus for urinary tract stone formation in patients who have undergone endoscopic PN.
Epilepsy surgery without lipoma removal for temporal lobe epilepsy associated with lipoma in the Sylvian fissure
Authors: Kazuki Nomura, Hiroharu Suzuki, Yasushi Iimura, Takumi Mitsuhashi, Samantha Tamrakar, Tetsuya Ueda, Kazuki Nishioka, Keiko Fusegi, Mari Tada, Madoka Nakajima, Akiyoshi Kakita, Hidenori Sugano
Journal: Acta Neurochir (Wien) (2023)
Keywords: epilepsy surgery, focal cortical dysplasia, intracranial lipoma, intraoperative electrocorticography, sylvian fissure, temporal lobe epilepsy
MeSH terms: Brain Neoplasms / complications, Brain Neoplasms / diagnostic imaging, Brain Neoplasms / surgery, Epilepsy, Epilepsy, Temporal Lobe / diagnostic imaging, Epilepsy, Temporal Lobe / etiology, Epilepsy, Temporal Lobe / surgery, Lipoma / complications, Lipoma / diagnostic imaging, Lipoma / surgery, Case Reports, Research Support, Non-U.S. Gov't, Humans, Magnetic Resonance Imaging / adverse effects, Seizures

Epileptic seizure is the common symptom associated with lipomas in the Sylvian fissure (Sylvian lipomas). Removal of these lipomas carries risks of hemorrhage and brain damage. We report a surgical strategy of not removing the lipoma in a case of intractable temporal lobe epilepsy associated with Sylvian lipoma. We performed anterior temporal lobectomy with preservation of the pia mater of the Sylvian fissure and achieved seizure freedom. Focal cortical dysplasia type 1 of the epileptic neocortex adjacent to the Sylvian lipoma was pathologically diagnosed. We recommend our surgical procedure in similar cases to avoid complications and achieve adequate seizure control.
Japanese spotted fever with post-infectious encephalitis
Authors: Takafumi Wada, Hitoshi Mori, Kouji Kida, Katsuro Shindo
Journal: IDCases (2022)
Keywords: encephalitis, japanese spotted fever
MeSH terms: Case Reports

Japanese spotted fever (JSF) is a rickettsial disease caused by Rickettsia japonica. To the best of our knowledge, there have only been five reported cases of JSF involving the central nervous system. A 74-year-old man was admitted after 1 week of fever and maculopapular rash. JSF was definitively diagnosed by PCR; however, the patient showed mental disturbance and abnormal behavior. After intravenous immunoglobulin, his mental state and behavior improved. The findings of cerebrospinal fluid analysis, electroencephalography, and 99 mTcHM-PAO single photon computed emission tomography suggested post-infectious encephalitis. JSF causes post-infectious encephalitis and early treatment is recommended.
Case Report: Optic neuritis as the initial presentation of Orientia tsutsugamushi infection detected by metagenomic next-generation sequencing
Authors: Chuan-Bin Sun, Zhiqiong Ma, Zhe Liu
Journal: Front Immunol (2023)
Keywords: orientia tsutsugamushi, anticardiolipin antibody, beta-2-glycoprotein-i antibody, metagenomic next-generation sequencing, optic neuritis, scrub typhus
MeSH terms: Optic Neuritis / diagnosis, Optic Neuritis / drug therapy, Scrub Typhus / diagnosis, Scrub Typhus / drug therapy, Case Reports, Doxycycline / therapeutic use, Fever / etiology, High-Throughput Nucleotide Sequencing, Humans, Immunoglobulin G, Immunoglobulin M, Male, Steroids, Doxycycline, Immunoglobulin M, Immunoglobulin G, Steroids

Scrub typhus is an acute febrile illness caused by Orientia tsutsugamushi infection, and typically manifested as fever, eschar, lymphadenopathy, rash, and other flu-like signs. Ocular involvement was not uncommon, and mostly occurred at post-fever or recovery stage in scrub typhus cases. We hereby report a case of scrub typhus presenting as unilateral optic neuritis (ON). A 56-year-old man going wild fishing nearly every day complained of a blurred vision and an inferior visual field defect in the right eye two or three days after an insect-bite like shin induration in his left leg. He was diagnosed as ON, and treated with dexamethasone in the local hospital. Unfortunately, his right eye vision progressively deteriorated during steroid therapy. Three days after steroid therapy ceased, he suffered from a high fever and painful subcutaneous masses in the left groin. Peripheral blood test by metagenomic next-generation sequencing (mNGS) was positive for Orientia tsutsugamushi, but negative for other pathogens. The diagnosis was then revised to scrub typhus and ON. His systemic symptoms rapidly disappeared after oral doxycycline and omadacycline therapy. However, his right eye vision continuously deteriorated to hand motion. Further serum tests for aquaporin 4-IgG antibody and myelin oligodendrocyte glycoprotein-IgG antibody were both negative, but for anticardiolipin IgM and beta-2-glycoprotein-I IgM were both positive. The patient's right eye vision gradually improved after doxycycline combined with steroid pulse therapy. Our case indicates that ON in scrub typhus cases may present as a parainfectious inflammation, and that mNGS is a useful and valuable method for early diagnosis of scrub typhus.
Ruptured popliteal artery aneurysm in a patient with a clinical diagnosis of Marfan syndrome
Authors: Gabriel Paiva Duarte, Jorge Ribeiro da Cunha
Journal: J Vasc Bras (2020)
Keywords: marfan syndrome, popliteal artery, ruptured aneurysm
MeSH terms: Case Reports

The popliteal artery is the main site of occurrence of peripheral aneurysms. Acute presentations constitute a potential threat to limb viability and to life, especially in the event of rupture. Rupture is a rare event, but one that demands an immediate intervention decision to achieve a satisfactory treatment outcome. The gold standard treatment is conventional surgery, effecting repair by interposition of a great saphenous vein graft. Studies conducted in recent decades have found associations between Marfan Syndrome and peripheral aneurysms. This report presents a case of a ruptured left popliteal artery aneurysm successfully treated in an 82-year-old patient clinically diagnosed with previously unknown Marfan syndrome.
Alveolar Soft Part Sarcoma with Unusual Cardiac Metastasis: A Case Report and Review of the Literature
Authors: Abhinav Tiwari, Bhavana Siddegowda Bangalore, Himani Sharma, Zaid Ammari, Mohammad S Khan, Zubair Khan, Hermann Simo
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Alveolar soft part sarcoma is a very uncommon soft tissue malignancy which accounts for <1% of soft tissue sarcoma. It is a malignant and highly vascular tumor arising most commonly in the musculature of the lower extremities, with metastasis primarily to the lungs, bones, and brain. Cardiac metastasis is very rare and only 5 cases have been reported in the literature so far. We report a case of a young woman with a history of surgically resected alveolar soft part sarcoma of left thigh who presented with persistent dry cough and was found to have a cardiac mass, which on biopsy proved to be alveolar soft part sarcoma.
Case Report: Medullary Thyroid Cancer Workup Initiated by Unexpectedly High Procalcitonin Level-Endocrine Training Saves Life in the COVID-19 Unit
Authors: Livia Sira, Zoltán Balogh, Eszter Vitális, Dávid Kovács, Ferenc Győry, Csaba Molnár, Miklos Bodor, Endre V Nagy
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: calcitonin, endocrine rotation, medullary thyroid cancer, procalcitonin, severe acute respiratory syndrome coronavirus 2
MeSH terms: COVID-19 / complications, Carcinoma, Neuroendocrine / blood, Carcinoma, Neuroendocrine / diagnosis, Endocrinology / methods, Procalcitonin / blood, Thyroid Neoplasms / blood, Thyroid Neoplasms / diagnosis, Case Reports, Biomarkers, Tumor / blood, C-Reactive Protein / biosynthesis, Carcinoma, Neuroendocrine / complications, Humans, Incidental Findings, Lymph Nodes / pathology, Male, Middle Aged, SARS-CoV-2, Thyroid Neoplasms / complications, Thyroid Nodule, Biomarkers, Tumor, Procalcitonin, C-Reactive Protein, Thyroid cancer, medullary

Background:
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is a novel coronavirus that has caused a worldwide pandemic. The majority of medullary thyroid cancers present as a thyroid nodule. At the time of diagnosis, cervical lymph nodes and distant metastases are frequently detected.
Case report:
Here, we present a case of a 46-year-old man with coronavirus disease (COVID) pneumonia, who had persistently high serum procalcitonin levels despite normal C-reactive protein levels. The attending infectologist happened to be a colleague who spent some time, as part of her internal medicine rotation, in the Endocrine Ward and recalled that medullary thyroid cancer might be the cause. This led to the timely workup and treatment of the medullary cancer.
Osteoid osteoma of the proximal fibula: an uncommon location with the indication for open surgery
Authors: Bastian Marquass, Pierre Hepp, Jan Dirk Theopold, Nikolaus von Dercks, Thomas R Blattert, Christoph Josten
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

Purpose. This is a case report of a patient with an osteoid osteoma of the proximal fibula. The objective is to illustrate a rare tumor location that requires open surgery due to closeness of neurological structures. Methods. Clinical and roentgenographic findings, treatment, and histological appearance are presented. Results. Local pain and swelling of the proximal fibula with improvement under salicylates led to the diagnosis of an osteoid osteoma, what was confirmed with an MRI scan. Due to proximity to the common peroneal nerve, we decided for open surgery. During the operation, the nerve was seen to cross the tumor site making it necessary to retract it to expose the entire tumor. Histologically, typical features of osteoid osteoma with a rather well-defined nidus surrounded by sclerotic bone were seen. A complete removal was performed. Conclusion. Osteoid osteomas of the proximal fibula are rare. When planning surgery, the common peroneal nerve must be identified, and its further distal course should be taken into account to avoid iatrogenic damage to the nerve.
Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation
Authors: Balázs Sarkadi, Kornélia Baghy, Zoltán Sápi, Gábor Nyirő, István Likó, Attila Patócs
Journal: Front Genet (2019)
Keywords: brca1 mutation, ret mutation, cancer genetics, medullary thyroid cancer, multiple endocrine neoplasia type 2
MeSH terms: Case Reports

Coincidences of more than one pathogenic mutation in high and/or moderate risk-associated cancer genes have been rarely reported, and the implication for disease progression has been debated. We present a case harboring two autosomal dominant inherited mutations potentially aggravating the phenotype. Case report: A 16-year-old female was referred to the Endocrine Unit due to two palpable thyroid nodules and hair loss. Two hypoechoic, inhomogeneous masses with microcalcification in the thyroid gland were confirmed as medullary thyroid carcinoma. Genetic testing revealed a pathogenic heterozygous RET mutation associated with multiple endocrine neoplasia type 2 (MEN2). Furthermore, genetic screening identified the same mutation in the proband's clinically negative brother as well as in his two sons. The proband's mother and maternal aunt died of breast cancer. No samples were available from the deceased. The proband underwent further genetic counseling and BRCA1/2 testing. A novel, frameshift heterozygous BRCA1 mutation (BRCA1 p.Ile90Serfs, NC_000017.10:g.41256905_41256917) was identified in the proband, but it was absent in the brother and father, indicative of maternal inheritance. Breast or ovarian cancer was neither detected in our case at initial presentation nor during the 6-year follow-up. Conclusion: Coincidence of two monogenic autosomal dominant tumor syndromes is extremely rare, but it represents a significant therapeutic and cancer surveillance challenge. Due to the wider use of next generation sequencing in clinical practice, similar situations may occur more frequently.
A case report of prostate cancer presenting as a symptomatic pelvic mass mimicking lymphoma
Authors: Zied Mahjoubi, Mokhtar Bibi, Houssem Hedhli, Yassine Ouanes, Sami Ben Rhouma, Nouira Yassine
Journal: Int J Surg Case Rep (2020)
Keywords: androgen deprivation, case report, lymphoma, metastatic prostate cancer, orchidectomy, pelvic mass
MeSH terms: Case Reports

Introduction:
Metastatic prostate cancer is a relatively common condition in elderly men. The aim of this paper is to report a rare case of metastatic prostate cancer presenting as a large pelvic mass mimicking lymphoma and to discuss its management.
Presentation of case:
An 85-year-old patient was complaining of lower urinary tract symptoms, and significant pelvic swelling. On physical examination, a 15-cm pelvic mass and lumpy prostate were found. Laboratory investigations revealed elevated PSA levels (PSA=300g/mL). CT scan showed a large lobulated necrotic pelvic mass and multiple swollen lymphnodes. The diagnosis of an atypical pelvic lymphoma associated with a metastatic prostate cancer was first evoked. An ultrasonography-guided biopsy of the mass was carried. The immunohistochemical study confirmed prostate adenocarcinoma. A bilateral orchiectomy was performed. A follow up of 3 months showed a decrease of PSA without shrinkage of the mass.
Discussion:
A metastatic prostate cancer presenting as a compressive pelvic mass mimicking other diagnosis such as lymphomas, is a rare circumstance of discovery. In our case, atypical pelvic lymphoma was evoked based on the association of multiple retroperitoneal enlarged lymphnodes. Histological findings of the biopsy rectified the diagnosis and confirmed prostate adenocarcinoma. The main treatment for such metastatic prostate cancers remains hormone therapy. Some authors reported external beam radiotherapy in order to reduce prostate volume.
Conclusion:
Prostate cancer should be considered in the assessment of large pelvic masses. Digital rectal examination and testing PSA levels can lead to the diagnosis. After histological confirmation, the androgen deprivation is the main treatment.
Apert's Syndrome
Authors: Gudipaneni Ravi Kumar, Mandapati Jyothsna, Syed Basheer Ahmed, Ketham Reddy Sree Lakshmi
Journal: Int J Clin Pediatr Dent (2014)
Keywords: acrocephalosyndactyly, craniosynostosis, midface hypoplasia, pseudocleft palate
MeSH terms: Case Reports

Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma-tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72.
Case Report: Histological and Histomorphometrical Results of a 3-D Printed Biphasic Calcium Phosphate Ceramic 7 Years After Insertion in a Human Maxillary Alveolar Ridge
Authors: Carlo Mangano, Alessandra Giuliani, Ilaria De Tullio, Mario Raspanti, Adriano Piattelli, Giovanna Iezzi
Journal: Front Bioeng Biotechnol (2021)
Keywords: biomaterials, bone augmentation, bone regeneration, bone substitutes, clinical research, clinical study, histological analysis, micro-ct
MeSH terms: Case Reports

Introduction: Dental implant placement can be challenging when insufficient bone volume is present and bone augmentation procedures are indicated. The purpose was to assess clinically and histologically a specimen of 30%HA-60%β-TCP BCP 3D-printed scaffold, after 7-years. Case Description: The patient underwent bone regeneration of maxillary buccal plate with 3D-printed biphasic-HA block in 2013. After 7-years, a specimen of the regenerated bone was harvested and processed to perform microCT and histomorphometrical analyses. Results: The microarchitecture study performed by microCT in the test-biopsy showed that biomaterial volume decreased more than 23% and that newly-formed bone volume represented more than 57% of the overall mineralized tissue. Comparing with unloaded controls or peri-dental bone, Test-sample appeared much more mineralized and bulky. Histological evaluation showed complete integration of the scaffold and signs of particles degradation. The percentage of bone, biomaterials and soft tissues was, respectively, 59.2, 25.6, and 15.2%. Under polarized light microscopy, the biomaterial was surrounded by lamellar bone. These results indicate that, while unloaded jaws mimicked the typical osteoporotic microarchitecture after 1-year without loading, the BCP helped to preserve a correct microarchitecture after 7-years. Conclusions: BCP 3D-printed scaffolds represent a suitable solution for bone regeneration: they can lead to straightforward and less time-consuming surgery, and to bone preservation.
Atrial fibrillation-induced cardiac shock: first manifestation of a congenitally corrected transposition of the great arteries in a 45-year-old man
Authors: M Graf, M Zaczkiewicz, J Torzewski, O Zimmermann
Journal: Case Rep Cardiol (2012)

Background. The congenitally corrected transposition of the great arteries (L-TGA) is a very rare congenital heart defect, which often remains undetected for several decades of life. Case Presentation. We report on a 45-year-old man without prior history of heart disease, presenting with cardiac shock related to a first episode of tachycardic atrial fibrillation. The diagnostic work-up identified a L-TGA as the underlying cause for acute heart failure. Discussion. L-TGA is a very rare congenital heart defect, which is characterized by an atrioventricular as well as a ventriculoarterial discordance. By this means, the physiological sequence of pulmonary and systemic circulation is still maintained. On the basis of an ongoing strain of the right ventricle, which has to carry the burden of the systemic blood pressure, after more than four decades without symptoms, acute heart failure was triggered by a tachycardic atrial fibrillation.
An Enigmatic Case of Acute Mercury Poisoning: Clinical, Immunological Findings and Platelet Function
Authors: Ilka Kleffner, Susann Eichler, Tobias Ruck, Lisa Schüngel, Steffen Pfeuffer, Philipp Polzer, Ralf Dittrich, Rainer Dziewas, Catharina C Gross, Kerstin Göbel, Heinz Wiendl, Beate E Kehrel, Sven G Meuth
Journal: Front Neurol (2017)
Keywords: brain edema, hemostasis, mercury intoxication, neurotoxicity, vegetative state
MeSH terms: Case Reports

Severe mercury intoxication is very rare in developed countries, but still occurs as the result of volatile substance abuse, suicide attempts, occupational hazards, or endemic food ingestion as reported in the cases of public health disasters in Iraq and in Minamata Bay, Japan. Here, we describe the dramatic physical and cognitive decline of a 23-year-old patient caused by a severe methyl mercury (MeHg) intoxication of unknown origin. We show serial magnetic resonance imaging (MRI) of the patient's brain, as well as ex vivo analyses of blood and cerebrospinal fluid including multicolor flow cytometric measurements, functional assays of hemostaseologic efficacy, and evaluation of regulatory effector molecules. Together with the clinical history, our findings show the progressive neuronal degeneration accompanying the deterioration of the patient. Moreover, the ex vivo analyses display alterations of thrombocyte function and coagulation, as well as an immunological milieu facilitating autoimmunity. Despite the successful reduction of the MeHg concentration in the patient's blood with erythrocyte apheresis and chelator therapy, his condition did not improve and led to a persistent vegetative state. This case illustrates the neurotoxicity of MeHg following severe intoxication for the first time by serial MRI. Data on immune-cell and thrombocyte function as well as on coagulation in mercury poisoning reveal potential implications for anticoagulation and immunomodulatory treatment.