OpenMed/multicare-articles huggingface dataset:
A Primary Squamous Cell Carcinoma of the Thyroid Presenting as the Anaplastic Thyroid Carcinoma: A Case Report
Authors: Rui-Zhe Zheng, Guo-Hui Huang, Ying-Jie Xu
Journal: Front Surg (2020)
Keywords: anaplastic thyroid carcinoma, differential diagnosis, early identification, primary squamous cell carcinoma of the thyroid, treatment
MeSH terms: Case Reports

Background: Primary squamous cell carcinoma of the thyroid (PSCCT) is an uncommon malignancy that is difficult to diagnose and differentiate. There is no consensus for the early clinical, radiological, or ultrasonic identification of PSCCT before pathological changes are observed in patients. There is also no suitable treatment due to the absence of a definite diagnosis. Case Presentation: A 76-year-old female patient complained about a rapidly growing cervical mass, dyspnea, dysphagia, and a change in her voice. Based on the results of thyroid ultrasound, fine-needle aspiration, and plain and enhanced CT, the patient was initially diagnosed with anaplastic thyroid carcinoma (ATC). Thereafter, we removed the mass that was the patient's main complaint. The gross examination of the patient's symptoms also supported our previous diagnosis. However, her disease was finally diagnosed as PSCCT, according to the histopathology and immunohistochemistry findings of the mass. Conclusion: Our case highlights the need for a comprehensive framework in the management of PSCCT. The more auxiliary examinations (e.g., ultrasonographic, radiology, or biopsy examinations) we take, the more likely we are to identify this disease. Immunohistochemistry is currently the preferred examination for the diagnosis of PSCCT, while surgical resection combined with radio-sensitizing therapy and adjuvant chemotherapy is the main treatment method for PSCCT.
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel
Authors: Yanyun Wang, Yun Sun, Tao Jiang
Journal: Front Pediatr (2018)
Keywords: genetic diagnosis panel, pcca gene, propionic academia (pa), tandem mass spectrometry (ms/ms), urine gas chromatography mass spectrometry (gc/ms)
MeSH terms: Case Reports

Background: Propionic acidemia (PA) is an extremely rare autosomal recessive disorder which is caused by the deficiency of propionyl-CoA carboxylase (PCC) and associated with pathogenic variants in PCCA or PCCB gene. Case Report: Detection of PA in neonates is possible using Propionyl carnitine (C3) analysis by tandem mass spectrometry (MS/MS) in dried blood spots (DBS). Here we report one patient with PA. C3 in this case was normal in the initial screening and recall check and only manifested as the slightly increase of C3/C2, 3-hydroxypropionate in urine was only slightly elevated. Then two pathogenic mutations (c.802C>T/c.827delG) were detected in the PCCA gene by Genetic diagnosis panel. Among them, the variation rs774738181 (c.802C>T) was present on the dbSNP database which appeared to be "Likely pathogenic" in GenBank dbSNP (100915068). c.827delG was a novel frameshift mutation, leading to p.Gly276ValfsX46 mutation of amino acid sequence in PCCA. The patient underwent 1 year of follow-up, had total of 7 times and remain asymptomatic whose blood ammonia and liver function were normal. When the child was 1 year of age (in May of 2017), C3 and 3-Hydroxypropionate sudden elevated significantly, that proved pathogenicity of c.802C>T and c.827delG. Conclusion: Two novel mutations (c. 802C>T and c.827delG) in PCCA gene may be associated with late-onset PA, expanding its mutational spectrum. Maybe there is relation between the severity of propionyl-CoA carboxylase (PCC) activity defects and different genotypes.
Right Upper Quadrant Pain Following Endoscopic Retrograde Cholangiopancreatography; a Case Report
Authors: Lan Thi Nguyen, Dang Hai Do, An Duc Thai, Hoa Thi Nguyen
Journal: Arch Acad Emerg Med (2022)
Keywords: pancreatitis, acute necrotizing, case reports, cholangiopancreatography, endoscopic retrograde, peritonitis
MeSH terms: Case Reports

Endoscopic retrograde cholangiopancreatography (ERCP) is a standard for diagnosing and treating hepato-pancreatico-biliary (HPB) diseases in clinical settings. ERCP-related complications are relatively common, ranging from 4 to 30%. The most common one is acute pancreatitis. ERCP-related necrotizing pancreatitis accounts for 7.7% of ERCP-related pancreatitis cases. This complication may still be misdiagnosed, which might lead to inappropriate treatment with a worse prognosis. Here, we report a 34-year-old case with ERCP-related necrotizing pancreatitis who was successfully managed, but initially misdiagnosed with biliary peritonitis.
Emphysematous cystitis: report of an atypical case
Authors: Karen De Baets, Joost Baert, Luc Coene, Marc Claessens, Robert Hente, Geert Tailly
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

We report the atypical case of a nondiabetic 66-year old male with severe abdominal pain and vomiting who was found to have emphysematous cystitis. Of all gas-forming infections of the urinary tract emphysematous cystitis is the most common and the least severe. The major risk factors are diabetes mellitus and urinary tract obstruction. Most frequent causative pathogens are Escherichia coli and Klebsiella pneumoniae. The clinical presentation is nonspecific and ranges from asymptomatic urinary tract infection to urosepsis and septic shock. The diagnosis is made by abdominal imaging. Treatment consists of broad-spectrum antibiotics, bladder drainage, and management of the risk factors. Surgery is reserved for severe cases. Overall mortality rate of emphysematous cystitis is 7%. Immediate diagnosis and treatment is necessary because of the rapid progression to bladder necrosis, emphysematous pyelonephritis, urosepsis, and possibly fatal evolution.
Occurrence of Nasal Nosocomial Myiasis by Lucilia sericata (Diptera: Calliphoridae) In North of Iran
Authors: Mr Youssefi, Mt Rahimi, Z Marhaba
Journal: Iran J Parasitol (2012)
Keywords: hospital, iran, lucilia, maggot, myiasis
MeSH terms: Case Reports

We report a case of human nasal nosocomial myiasis in a 69-year-old rural man with numerous live maggots in nostrils. The patient was admitted in Emergency Ward due to dyspnea. After 72 hours the companion of patient discovered larva. The presence of the third instar larva indicated that the infestation was not more than three days. The collected instars were cleared, fixed and morphological studies then were carried out precisely and the larva was identified as Lucilia sericata.
A posteriori diagnosis of DRESS syndrome induced by diazoxide in a patient with an insulinoma: a case report and review of the literature
Authors: Najoua Lassoued, Wafa Alaya, Sondos Arfa, Mouna Korbi, Ines Lassoued, Soumaya Ben Amor, Fatma Zaouali, Zayneb Farhat, Jihen Chelly, Mohamed Habib Sfar
Journal: Front Med (Lausanne) (2023)
Keywords: dress syndrome, diazoxide, hypoglycemia, insulinoma, severe cutaneous adverse reaction
MeSH terms: Case Reports

The Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome can be potentially life-threatening. The diagnosis is sometimes difficult since the clinical manifestations may be incomplete or non-specific. Insulinoma is a rare functioning neuroendocrine tumor (NET) of the pancreas. Medical therapy may be needed when surgery is contraindicated, delayed or refused. Diazoxide is widely used to control hypoglycemia in patients with insulinoma. We report a clinical case of an insulinoma in a 85-year-old patient treated with diazoxide with a fatal outcome due to a delayed diagnosis of a DRESS syndrome. This is the first case of DRESS syndrome reported after using diazoxide for insulinoma treatment in our knowledge.
Cell-Free and Concentrated Ascites Reinfusion Therapy during Hemodialysis for Intradialytic Hypotension and Intractable Ascites
Authors: Hideyuki Hayasaka, Kiyonori Ito, Susumu Ookawara, Masaya Kofuji, Takayuki Uchida, Shunto Kawamura, Ayumi Gomyo, Haruhisa Miyazawa, Yuichiro Ueda, Keiji Hirai, Shun-Ichi Kimura, Naoki Momose, Shinichi Kako, Yoshiyuki Morishita
Journal: Case Rep Nephrol (2022)
MeSH terms: Case Reports

A 60-year-old woman with POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome and intractable ascites presented with acute renal failure and received hemodialysis (HD) therapy. Due to frequent intradialytic hypotension, ultrafiltration with cell-free and concentrated ascites reinfusion therapy (CART) was performed to adequately manage the body fluid status and massive ascites. During HD with CART, her blood pressure was maintained compared with that during HD without CART, and an ultrafiltration volume of 3.7 L was achieved after HD with CART. In HD patients with intradialytic hypotension and massive ascites, the combination of CART and ultrafiltration during HD may be an effective therapeutic option for body-fluid management.
Nivolumab-Induced Autoimmune Encephalitis in Two Patients with Lung Adenocarcinoma
Authors: Suma Shah, Anastasie Dunn-Pirio, Matthew Luedke, Joel Morgenlander, Mark Skeen, Christopher Eckstein
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Immune checkpoint inhibitors have improved patient survival outcomes in a variety of advanced malignancies. However, they can cause a number of immune-related adverse effects (irAEs) through lymphocyte dysregulation. Central nervous system (CNS) irAEs are rare, but as the number of indications for checkpoint inhibitors increases, there has been emergence of CNS immune-mediated disease among cancer patients. Given the relatively recent recognition of checkpoint inhibitor CNS irAEs, there is no standard treatment, and prognosis is variable. Therefore, there is a great need for further study of checkpoint inhibitor-induced CNS irAEs. Here, we present two unique cases of nivolumab-induced autoimmune encephalitis in patients with non-small cell lung cancer and review the available literature.
Myxoid esophageal liposarcoma: A case report of a rare tumor
Authors: Y Ben Safta, F Souai, M Maatouk, A Zehani, A Mabrouk, S Daldoul, S Sayari, K Haout, M Ben Moussa
Journal: Int J Surg Case Rep (2019)
Keywords: esophagus, lewis santy, liposarcoma, tumor

Introduction:
Esophageal liposarcoma represent a rare cause of esophageal tumor. According to the literature, since the first case reported in 1983, only 42 cases of esophageal liposarcoma were reported.
Presentation of case:
We present a case of liposarcoma in the lower oesophagus treated by surgical resection.
Discussion:
Liposarcoma in the oesophagus gastrointestinal tract is an uncommon. An analysis of the literature reports 42 cases.In many cases the diagnosis was established in postoperative period.Surgery is the standard treatment including polypectomy, total or subtotal oesophagectomy.
Conclusion:
There is no conventional treatment of this pathology. The curative treatment requires surgical resection or endoscopic approach for selected tumor.
Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report
Authors: Diego Gomez-Puerto, Alba Llop-Guevara, Mara Cruellas, Sara Torres-Esquius, Javier De La Torre, Vicente Peg, Judith Balmaña, Isabel Pimentel
Journal: Front Oncol (2022)
Keywords: hrd-biomarkers, rad51, rad51d, pathological complete response (pcr), triple-negative breast cancer
MeSH terms: Case Reports

Triple-negative breast cancer is the most aggressive subtype of mammary carcinoma. In the early stage, neoadjuvant chemotherapy (NAC) is the standard of care for prognostic stratification and the best adjuvant treatment strategy. A 30-year-old female presented in the emergency room because of a gigantic right breast associated with an ulcerated lump at the upper quadrants. The right axillary nodes were palpable. An ultrasound was performed, showing the ulcerated neoformation with enlarged right axillary lymph nodes observed to level III. A core biopsy of the breast lesion was performed, and the pathological examination revealed a nonspecial type, grade 3, invasive, triple-negative breast cancer. No distant disease was found in the PET-CT scan. A germline genetic panel by next-generation sequencing identified a likely pathogenic variant in RAD51D (c.898C>T). Assessment of the functionality of the DNA homologous recombination repair pathway by RAD51 foci in the tumor revealed a profile of homologous recombination deficiency. NAC consisting of weekly carboplatin and paclitaxel followed by dose-dense doxorubicin/cyclophosphamide was performed with a complete metabolic response achieved in the PET-CT scan. The patient underwent a modified radical mastectomy plus axillary lymphadenectomy with a pathological complete response in the breast and axilla and remains disease-free after 2 years of follow-up. We report a young female with a triple-negative breast cancer stage cT4bN3M0 and a hereditary pathogenic mutation in RAD51D. The tumor was highly proliferative and homologous recombination-deficient by RAD51. The patient received platinum-based NAC, achieving a pathologic complete response. More effort should be made to identify predictive functional biomarkers of treatment response, such as RAD51 foci, for platinum sensitivity.
Case report: Metastatic Merkel cell carcinoma presenting seven years after loco-regional disease resection of primary tumor with interval in-transit and nodal metastases
Authors: Joshua Rusheen, James Clune, Stephan Ariyan, Raymond Baumann, Harriet Kluger, Kelly Olino, Sarah Weiss
Journal: Front Oncol (2023)
Keywords: in-transit, merkel cell, merkel cell carcinoma, recurrence, surveillance
MeSH terms: Case Reports

Merkel cell carcinoma (MCC) is a rare tumor with a high risk of recurrence after definitive therapy; however, the optimal duration of surveillance is unclear. First recurrences typically occur within 3 years. National guidelines recommend that patients undergo physical examination and imaging for surveillance during this time period. However, the duration of surveillance beyond this is not defined. Here, we describe a case of a patient developing a recurrence of MCC 7 years after the primary diagnosis with interval in-transit and regional lymph node metastases 15 months following the treatment of the primary MCC. Such late recurrences are rare, largely not reported, and the risk factors contributing to late recurrences are not well described. This case highlights the possibility of late recurrences of MCC after an initial in-transit and nodal recurrence and underscores the importance of identifying predictors of recurrence that may better guide the duration of surveillance.
Unexplained Graft Dysfunction after Heart Transplantation-Role of Novel Molecular Expression Test Score and QTc-Interval: A Case Report
Authors: Khurram Shahzad, Martin Cadeiras, Kotaro Arai, Dmitry Abramov, Elizabeth Burke, Mario C Deng
Journal: Cardiol Res Pract (2010)
MeSH terms: Case Reports

In the current era of immunosuppressive medications there is increased observed incidence of graft dysfunction in the absence of known histological criteria of rejection after heart transplantation. A noninvasive molecular expression diagnostic test was developed and validated to rule out histological acute cellular rejection. In this paper we present for the first time, longitudinal pattern of changes in this novel diagnostic test score along with QTc-interval in a patient who was admitted with unexplained graft dysfunction. Patient presented with graft failure with negative findings on all known criteria of rejection including acute cellular rejection, antibody mediated rejection and cardiac allograft vasculopathy. The molecular expression test score showed gradual increase and QTc-interval showed gradual prolongation with the gradual decline in graft function. This paper exemplifies that in patients presenting with unexplained graft dysfunction, GEP test score and QTc-interval correlate with the changes in the graft function.
Transmesenteric Internal Herniation Leading to Small Bowel Obstruction Postlaparoscopic Radical Nephrectomy
Authors: G A Cuthbert, L T Teo
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Internal herniation following laparoscopic surgery is rare. We present a case of small bowel obstruction secondary to internal herniation in a 76-year-old male patient. Presentation was on postoperative day 28 following transperitoneal laparoscopic radical left nephrectomy for suspected renal carcinoma. The herniation was through a defect in the large bowel mesentery identified at exploratory laparotomy. To date, 10 cases of internal herniation following laparoscopic nephrectomy have been described in the literature. Two cases were managed laparoscopically and the remainder by laparotomy. One case required resection of an ischaemic portion small bowel and the remainder were managed by reduction of the hernia and closure of the defect. Internal herniation is rare but carries significant morbidity. It must be considered in cases presenting with obstructive symptoms after laparoscopic nephrectomy. Early CT scanning and prompt surgical management are hallmarks of best management.
Retinal changes in COVID-19 hospitalized cases
Authors: Rafael Lani-Louzada, Carolina do Val Ferreira Ramos, Ricardo Mello Cordeiro, Alfredo A Sadun
Journal: PLoS One (2020)
MeSH terms: COVID-19 / complications, Retinal Hemorrhage / epidemiology, Observational Study, Adult, Aged, COVID-19 / pathology, Female, Fundus Oculi, Humans, Inpatients / statistics & numerical data, Male, Middle Aged, Retinal Hemorrhage / etiology, Retinal Hemorrhage / pathology, Retinal Vessels / pathology

The main objective of this study was to evaluate the retinas of severely or critically ill COVID-19 patients during their hospital stay, at varying time points after symptoms onset. This was a case series observed during May 2020 in two referral centers for COVID-19 treatment in Rio de Janeiro, Brazil. 47 eyes from 25 hospitalized patients with severe or critical confirmed illness were evaluated. A handheld retinal camera was used to acquire bilateral fundus images at several time points after symptoms onset. Electronic health records were retrospectively analyzed and clinical data collected. Severe and critical diseases were noticed in 52% (13/25) and 48% (12/25) of enrolled patients, respectively. Retinal changes were present in 12% (3/25) of patients: a 35 year-old male demonstrated bilateral nerve fiber layer infarcts and microhemorrhages in the papillomacular bundle, but required mechanical ventilation and developed severe anemia and systemic hypotension, acute kidney injury and neurologic symptoms during the course of the disease (critical illness); a 56 year-old male, who required full enoxaparin anticoagulation due to particularly elevated D-dimer (>5.0 mcg/mL), demonstrated unilateral and isolated flame-shaped hemorrhages; and a 49 year-old hypertensive male showed bilateral and discrete retinal dot and blot microhemorrhages. The other 22 patients evaluated did not demonstrate convincing retinal changes upon examination. There was no correlation between disease severity and admission serum levels of CRP, D-dimer and ferritin. This was the first study to show that vascular retinal changes may be present in not insignificant numbers of severe or critical COVID-19 inpatients. These retinal changes, only seen after morbid developments, were likely secondary to clinical intercurrences or comorbidities instead of a direct damage by SARS-CoV-2, and may be important and easily accessible outcome measures of therapeutic interventions and sentinels of neurologic and systemic diseases during COVID-19 pandemic.
Primary Cutaneous Follicle Centre Lymphoma with Hodgkin and Reed-Sternberg Like Cells: A Case Report and Review of the Literature
Authors: Fatima A Aldarweesh, Diana O Treaba
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

An elderly woman with a complex medical history presented with a left forearm mass that slowly developed for several months. The excisional biopsy of this skin mass was remarkable for involvement by a follicle centre cell derived lymphoma with a nodular and diffuse pattern associated with a subset of scattered Hodgkin and Reed-Sternberg like cells. Fluorescence in situ hybridization studies did not detect the presence of IgH-bcl2 fusion transcript, and molecular studies were negative for immunoglobulin heavy chain gene rearrangements and EBV DNA sequences. Hodgkin and Reed-Sternberg like cells are rarely reported in FLs, and the association with primary cutaneous follicle centre lymphoma is extremely rarely seen. To our knowledge, our case is the second case of primary cutaneous follicle centre lymphoma with Hodgkin and Reed-Sternberg like cells.
Metastasis of Hepatocellular Carcinoma to the Esophagus: Case Report and Review
Authors: Jun-Ichiro Harada, Takeshi Matsutani, Nobutoshi Hagiwara, Yoichi Kawano, Akihisa Matsuda, Nobuhiko Taniai, Tsutomu Nomura, Eiji Uchida
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

A follow-up endoscopy in a 71-year-old Japanese man who had undergone a left lateral segmentectomy for HCC two years ago revealed an approximately 2 cm in diameter pedunculated polypoid mass in the middle part of the thoracic esophagus. Immunohistochemical staining of the endoscopic biopsy revealed a metastatic HCC esophageal tumor. As the patient's disease could be radically removed by preoperative examinations, we resected the metastatic esophageal tumor via right thoracotomy and esophagogastrostomy reconstruction. Histological examination of the resected specimen revealed that the esophageal tumor was compatible with a HCC metastasis. This is an extremely rare case of a solitary metastasis to the esophagus from HCC in the literature.
Persistent sciatic artery aneurysm with lower limb ischemia
Authors: Gaurav Kesri, Jitendra Mangtani, Gaurav Kumar, Krishan Kumar Dangayach
Journal: Case Rep Vasc Med (2014)

Persistent sciatic artery is a very rare clinical entity. Those of us who have not seen the lesion regard this as a condition which is described in the literature through less than 200 cases. We report, here, a case of a 60-year-old female who presented to the surgical outdoor with complaints of a pulsatile gluteal swelling associated with ischemic changes in the ipsilateral lower limb. On Doppler and CT angiographic analysis, the patient was determined as having persistent sciatic artery aneurysm which was then managed by a combined surgical and endovascular approach. Ours is probably the first such case to be reported from India. The objective of this case report is to highlight the relevant embryology, the pathognomonic presenting features, the diagnostic dilemma, management, and complications associated with a case of persistent sciatic artery (PSA).