OpenMed/multicare-articles huggingface dataset:
Signet-ring cell melanoma with sentinel lymph node metastasis: A case report with immunohistochemical analysis and review of the clinicopathological features
Authors: Mitsuaki Ishida, Muneo Iwai, Keiko Yoshida, Akiko Kagotani, Hidetoshi Okabe
Journal: Oncol Lett (2014)
Keywords: intermediate filament, mtor pathway, signet-ring cell melanoma

Signet-ring cell melanoma is an extremely rare variant of malignant melanoma. A 68-year-old male presented with a black nodule on the left thigh. Histopathological examination revealed proliferation of sheet-like or variable-sized nests of atypical melanocytes. Neoplastic cells showing signet-ring cell appearance, characterized by the presence of eccentrically located enlarged nuclei and abundant pale cytoplasm, were also present. Immunohistochemically, the tumor cells were positive for S-100 protein, vimentin and Melan-A. Moreover, mammalian target of rapamycin (mTOR) pathway proteins were diffusely expressed. The current case report presents the 21st reported case of signet-ring cell melanoma. Analyses of the clinicopathological features revealed that this disease commonly affects middle-aged males and the presence of metastatic signet-ring cell melanoma with an unknown primary tumor. Immunohistochemical analyses of melanocytic markers have been useful for establishing the diagnosis of this type of disease, however, HMB-45 is occasionally found to be negative. In addition, the present case report is the first to analyze the expression of mTOR pathway proteins, which are central proteins involved in carcinogenesis and its inhibitor has been proposed as a therapeutic target for various types of tumor. Therefore, the mTOR inhibitor may also be a potential candidate for the treatment of this type of tumor.
Takotsubo Cardiomyopathy Secondary to Adrenal Insufficiency: A Case Report and Literature Review
Authors: Ian Garrahy, Peter Nicholas 3rd, Oreoluwa Oladiran, Salik Nazir
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

We report a case of a middle-aged female who presented with altered mental status, hypotension, and hypoglycemia and was diagnosed with secondary adrenal insufficiency. She was also found to have elevated troponin I on initial evaluation with diffuse T wave inversions on electrocardiogram. Transthoracic echocardiogram revealed ejection fraction of 38% with apical akinesia. Subsequent left heart catheterization revealed clean coronary arteries. She was diagnosed with typical Takotsubo cardiomyopathy secondary to adrenal insufficiency. She was managed with IV hydrocortisone with resolution of symptoms. This article adds to the select few cases in the literature of the association of Takotsubo cardiomyopathy resulting from secondary adrenal insufficiency.
CASE REPORT Papillary Fibroelastomas and the Conundrum of the Benign Intracardiac Mass
Authors: Vijay A Singh, Masood A Shariff, Rami Michael, Basam Azab, Shani J Fruchter, Kourosh T Asgarian, Joseph T McGinn Jr
Journal: Eplasty (2012)

Cardiac papillary fibroelastomas are a rare form of benign, primary cardiac tumor. They tend to develop from the valvular endocardium, with nonvalvular locations being uncommon. They are primarily found on either the mitral or aortic valve. They account for 7% of all primary cardiac tumors. Papillary fibroelastomas are usually identified through either transthoracic echocardiography or transesophageal echocardiography. The latter is more likely to provide a clearer diagnosis. Management remains controversial. The benign histology notwithstanding, the prevailing consensus is toward excision of left-sided cardiac lesions due to the risk of coronary and cerebral embolization. While the diagnosis of cardiac papillary fibroelastomas is relatively rare, the likelihood of encountering a right-sided lesion with rapid growth in a 6-month period is extraordinary. We highlight a case where an 84-year-old man with coronary artery disease was found to have a right atrial mass attached to the tricuspid valve. This mass grew by more than 1 cm in a 6-month period.
Canalis Sinuosus Damage after Immediate Dental Implant Placement in the Esthetic Zone
Authors: Roman Volberg, Oleg Mordanov
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Dental implant failure in the anterior maxilla can be caused by the range of the features. One of them is neighboring neurovascular structure damage, such as the canalis sinuosus (CS), that carries the superior anterior alveolar nerve. The aim of the report is to demonstrate clinical symptomatology and radiographic signs of CS damage in a 45-year-old female patient who underwent upper left lateral incisor extraction and immediate implant placement and implant removal in 16 days secondary to pain and paresthesia in the maxillary left region.
Vulvar Buschke-Löwenstein tumor in a HPV 16 infected woman: case report
Authors: Safia Ernez, Mouna Derouich, Salma Chachia, Sassi Boughizane
Journal: Pan Afr Med J (2022)
Keywords: buschke löwenstein tumor, case report, human papillomavirus, verrucous lesion
MeSH terms: Buschke-Lowenstein Tumor / diagnosis, Buschke-Lowenstein Tumor / pathology, Condylomata Acuminata / surgery, Papillomavirus Infections / complications, Papillomavirus Infections / diagnosis, Case Reports, Female, Human papillomavirus 16, Humans, Middle Aged

The Buschke-Löwenstein tumor is characterized by an exophytic lesion on the perianal region. It is considered benign but there is a high risk of recurrence and degenerative potential. It is commonly associated with human papillomavirus (HPV) especially subtypes 6 and 11, its evolution depends on the host's immunity and the association with other sexually transmitted diseases. Surgical excision is the recommended treatment in most cases. We report the case of a 54-year-old woman with only diabetes history, who had verrucous vulvar lesion associated to HPV subtype 16 treated with large excision.
Psoas Hydatid Cyst in Children: A Rare Localization about a Case
Authors: Amine El Khassoui, El Mouhtadi Aghoutane, Tarik Salama, Redouane El Fezzazi
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Introduction:
The development of hydatid cysts in the muscle is rare, and it is even rarer in children. We report the case of a 9-year-old child treated in pediatric orthopedics department at the University Hospital of Marrakech for a hydatid cyst psoas muscle revealed by lameness.
Result:
The child was consulted for painless and afebrile lameness of the left hip evolving since 3 months. The clinical examination finds a mass of the left flank. Investigations based on the abdominal ultrasound in first intention showed a hydatid cyst depending on the left psoas muscle. Pelvic CT and abdominal MRI were able to confirm the diagnosis and allowed a better study of the cyst neighboring elements. The drainage of the cyst followed by pericystectomy after evacuation of the vesicles contained in the cyst was done as radical treatment.
Conclusion:
The hydatid cyst of the psoas is a rare entity in the child requiring a good radiological study of the cyst as well as its neighboring elements to propose the most adapted surgery.
Treatment of Metastatic Primary Extramammary Paget Disease With Combination Anlotinib and Tislelizumab: A Case Report and Review of the Literature
Authors: Xin Yin, Xiaoqing Li, Muli Li, Qing She, Yan Liu, Xiaodan Chen, Suhua Ma, Qian Ma, Zhangkan Huang, Lin Xu, Xiaozhun Huang, Zhengyin Zhan, Xu Che
Journal: Front Med (Lausanne) (2022)
Keywords: anlotinib, extramammary paget disease, neuroendocrine differentiation, survival, tislelizumab
MeSH terms: Case Reports

Extramammary Paget's disease (EMPD) is a rare cutaneous neoplasm with distant metastases and a poor prognosis. We report the case of a 63-year-old male patient exhibiting stage IV primary EMPD with neuroendocrine differentiation, and harboring a somatic mutation in AMER1. After four cycles of Anlotinib combined with Tislelizumab, the patient achieved partial response for the metastatic lesions according to mRECIST1.1 criteria. Total positron emission tomography and computed tomography (PET-CT) scans revealed a significant reduction in SUV from 18.9 to 5.3, and the serum CEA decreased to normal levels after the treatment regimen. However, the patient developed fractures of the fourth and fifth thoracic vertebrae during the treatment. Therefore, percutaneous vertebroplasty was performed, and the patient experienced severe postoperative pneumonia and died from pulmonary encephalopathy and respiratory failure in June 2021. The overall and progression-free survival of the patient after diagnosis were 9 and 8 months, respectively. During the systemic treatment, the patient suffered grade 1 rash in the back and thigh and grade 1 hypertension. Nevertheless, the combination treatment of anlotinib and tislelizumab had a favorable clinical outcome and provided a survival advantage, and should be considered a therapeutic option for patients with AMER1-mutant metastatic EMPD.
Identification of the DNA repair defects in a case of Dubowitz syndrome
Authors: Jingyin Yue, Huimei Lu, Shijie Lan, Jingmei Liu, Mark N Stein, Bruce G Haffty, Zhiyuan Shen
Journal: PLoS One (2013)
MeSH terms: DNA Breaks, Double-Stranded, DNA Ligases / genetics, DNA Repair, Eczema / genetics, Growth Disorders / genetics, Intellectual Disability / genetics, Microcephaly / genetics, Mutation, Case Reports, Research Support, N.I.H., Extramural, Adult, Antineoplastic Agents / pharmacology, DNA Damage, DNA Ligase ATP, Eczema / pathology, Eczema / radiotherapy, Facies, Fatal Outcome, Female, Fibroblasts / drug effects, Fibroblasts / metabolism, Fibroblasts / pathology, Fibroblasts / radiation effects, Gamma Rays, Growth Disorders / pathology, Growth Disorders / radiotherapy, Humans, Intellectual Disability / pathology, Intellectual Disability / radiotherapy, Microcephaly / pathology, Microcephaly / radiotherapy, Radiation Tolerance, Antineoplastic Agents, LIG4 protein, human, DNA Ligases, DNA Ligase ATP, Dubowitz syndrome

Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from a Dubowitz Syndrome patient. Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. However, they have relatively normal sensitivities to mitomycin-C, cisplatin, and camptothecin. Dubowitz syndrome fibroblasts also have normal DNA damage signaling and cell cycle checkpoint activations after DNA damage. These data implicate a defect in repair of DNA double strand break (DSB) likely due to defective non-homologous end joining (NHEJ). We further sequenced several genes involved in NHEJ, and identified a pair of novel compound mutations in the DNA Ligase IV gene. Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.
Magnetic resonance imaging and 18F-fludeoxyglucose positron emission tomography/computed tomography findings of retroperitoneal clear cell carcinoma with an unknown primary site: A case report
Authors: Dao-Bing Zeng, Chan Chang, Xu-Sheng Liu, Yan Gao, Ya-Lan Wang, Zhi-Jun Pei
Journal: Front Med (Lausanne) (2022)
Keywords: 18f-fdg pet/ct, mri, clear cell carcinoma, kidney, pathology, retroperitoneum
MeSH terms: Case Reports

Herein, we report a case of retroperitoneal clear cell carcinoma (RCCC) with an unknown primary site that was confirmed via pathology. A 46-year-old man presented with low-grade fever, hyperhidrosis, and nightly fatigue that had occurred for the last 20 days. His weight had decreased significantly within the past 2 months (approximately 12 kg). On abdominal ultrasound, a mass was observed near the left renal hilum. In addition, enhanced magnetic resonance imaging (MRI) of the abdomen revealed a retroperitoneal nodular mass; however, no abnormalities in either kidney or adrenal glands were observed. 18F-fludeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) demonstrated an intensely FDG-avid retroperitoneal mass, the maximum standardized uptake value (SUVmax) was 19.6. On March 8, 2021, left retroperitoneal lesion resection, retroperitoneal lymph node dissection, and double kidney exploration were performed under general anesthesia. A post-operative pathological examination revealed Poorly differentiated clear cell carcinoma (left retroperitoneal) and metastatic lymph nodes. Immunohistochemical findings showed that the tumor originated from the kidney. At 6-month follow-up, reexamination of the patient revealed retroperitoneal lesion recurrence; however, no abnormalities were observable via enhanced computed tomography (CT) of both kidneys. To our knowledge, there have been no previous reports of RCCC of unknown origin.
Acute Necrotizing Pancreatitis following Long-Term Antipsychotic Use
Authors: David T Liebers, Adaora Ofomata, Ryan Badolato, Emily Mills, Pantea Farahmand
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Introduction. Psychiatrists commonly use antipsychotic medications in the treatment of psychotic and mood disorders. A rare but known side effect of atypical antipsychotics is acute pancreatitis. Most cases of antipsychotic-induced pancreatitis occur within six months of initiation. The mechanism believed to cause this reaction is hypertriglyceridemia. Here, we present a unique case of antipsychotic-induced pancreatitis that deviates from previous cases in the time to onset of the pancreatitis and the mechanism of presentation. Case Presentation. We present a case of a patient with treatment-resistant schizophrenia managed for over a decade on olanzapine and haloperidol. Twelve years after stabilization on this medication regimen, the patient developed acute pancreatitis, which after extensive medical workup was attributed to his psychotropic medications. We review his medical and psychiatric history, his medical course and workup during the episode of pancreatitis, and review recommendations for patients at risk for antipsychotic-induced pancreatitis based on this case and the current literature. Discussion. This case illustrates that acute pancreatitis can occur long after the initiation of antipsychotic medications and may be mediated by mechanisms other than hypertriglyceridemia. While there are reports of antipsychotic-induced psychosis occurring within months, and in a limited set of cases, years, after medication initiation, the twelve-year time interval in the present case is by far the longest duration of an antipsychotic precipitating this adverse event recorded in the literature. This case highlights that although exceedingly rare, prescribers should be aware of the risk for drug-induced pancreatitis in patients stable on antipsychotic medications.
Severe Combined Dyslipidemia With a Complex Genetic Basis
Authors: Ryan Le, Minan Abbas, Adam D McIntyre, Robert A Hegele
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: dna mutations, dna sequencing, apolipoprotein e, dyslipoproteinemia, xanthoma
MeSH terms: Dyslipidemias / genetics, Case Reports, Research Support, Non-U.S. Gov't, Acute Disease, Apolipoprotein E2 / genetics, Cholesterol / blood, Codon, Nonsense / genetics, Cytoskeletal Proteins / genetics, Dyslipidemias / blood, Elbow, Genotype, High-Throughput Nucleotide Sequencing, Humans, Hyperlipoproteinemia Type III / genetics, Knee, Male, Middle Aged, Mutation, Missense / genetics, Triglycerides / blood, Xanthomatosis / genetics, APC2 protein, human, Apolipoprotein E2, Codon, Nonsense, Cytoskeletal Proteins, Triglycerides, Cholesterol

Background. Familial dysbetalipoproteinemia (also known as type 3 hyperlipoproteinemia) is typically associated with homozygosity for the apolipoprotein E2 isoform, but also sometimes with dominant rare missense variants in the APOE gene. Patients present with roughly equimolar elevations of cholesterol and triglyceride (TG) due to pathologic accumulation of remnant lipoprotein particles. Clinical features include tuberoeruptive xanthomas, palmar xanthomas, and premature vascular disease. Case. A 48-year-old male presented with severe combined dyslipidemia: total cholesterol and TG were 11.5 and 21.4 mmol/L, respectively. He had dyslipidemia since his early 20s, with tuberous xanthomas on his elbows and knees. His body mass index was 42 kg/m2. He also had treated hypertension, mild renal impairment, and a history of gout. He had no history of cardiovascular disease, peripheral arterial disease, or pancreatitis. Multiple medications had been advised including rosuvastatin, ezetimibe, fenofibrate, and alirocumab, but his lipid levels were never adequately controlled. Genetic Analysis. Targeted next-generation sequencing identified (1) the APOE E2/E2 homozygous genotype classically described with familial dysbetalipoproteinemia; (2) in addition, one APOE E2 allele contained the rare heterozygous missense variant p.G145D, previously termed apo E-Bethesda; (3) a rare heterozygous APOC2 nonsense variant p.Q92X; and (4) a high polygenic risk score for TG levels (16 out of 28 TG-raising alleles) at the 82nd percentile for age and sex. Conclusion. The multiple genetic "hits" on top of the classical APOE E2/E2 genotype likely explain the more severe dyslipidemia and refractory clinical phenotype.
Is It Stevens-Johnson Syndrome or MIS-C with Mucocutaneous Involvement?
Authors: Abdollah Karimi, Elham Pourbakhtiaran, Mazdak Fallahi, Fereshteh Karbasian, Shahnaz Armin, Delara Babaie
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Background:
Severe acute respiratory syndrome coronavirus-2 (SARS-COV-2) can be present in the form of multisystem inflammatory disease in children. Case Presentation. A 25-month-old boy presented with fever, malaise, diffuse maculopapular rashes, and mucosal involvement during the COVID-19 pandemic. He was first diagnosed with Stevens-Johnson syndrome (SJS). Further evaluation revealed lymphopenia, thrombocytopenia, and elevated levels of C-reactive protein (CRP), ferritin, and fibrinogen. This was followed by a positive polymerase chain reaction (PCR) test for COVID-19. In addition to receiving initial care for SJS, he was treated for MIS-C, which led to his recovery after four days.
Conclusion:
COVID-19 infection should be considered in children with fever and dermatological features during the pandemic because it may cause different features of the multisystem inflammatory syndrome in children (MIS-C), suggestive of delayed hyperimmune response.
Streptococcus salivarius Prosthetic Joint Infection following Dental Cleaning despite Antibiotic Prophylaxis
Authors: Lyra B Olson, Daniel J Turner, Gary M Cox, Christopher J Hostler
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

We present the case of a 92-year-old man with septic arthritis of a prosthetic hip joint due to Streptococcus salivarius one week following a high-risk dental procedure despite preprocedure amoxicillin. S. salivarius is a commensal bacterium of the human oral mucosa that is an uncommon cause of bacteremia. S. salivarius has previously been described as a causative agent of infective endocarditis and spontaneous bacterial peritonitis but was only recently recognized as a cause of prosthetic joint infection. This case highlights the potential pathogenicity of a common commensal bacteria and the questionable utility of prophylactic antibiotics before dental procedures to prevent periprosthetic joint infections.
A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate
Authors: Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment's efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease.
A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review
Authors: Yilun Tao, Lin Yang, Dong Han, Chen Zhao, Wenxia Song, Haiwei Wang, Xiaoze Li, Lihong Wang
Journal: Front Genet (2023)
Keywords: gata3 gene, hdr syndrome, next-generation sequencing, review, splice site variant
MeSH terms: Case Reports

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. In this report, we present a case study of a 6-year-old female patient manifesting seizures, tetany, hypoparathyroidism, and sensorineural hearing loss. A heterozygous variant, c.1050 + 2T>C, in the GATA3 gene was discovered by genetic testing. Moreover, a minigene splicing experiment revealed that the aforementioned variation causes incorrect splicing and premature cessation of protein synthesis. The clinical profile of the patient closely resembles the well-known phenomenology of HDR syndrome, supporting the association between the condition and the GATA3 variant. The challenges in early diagnosis highlight the importance of employing next-generation sequencing for timely detection of rare diseases. Additionally, this research contributes to a deeper understanding of the genotype-phenotype correlations in HDR syndrome, underscoring the critical need for improved diagnostic and therapeutic strategies.
Post COVID-19 rhinocerebral mucormycosis: a case report and literature review
Authors: Amel El Korbi, Salma Bhar, Emna Bergaoui, Khaled Harrathi, Jamel Koubaa
Journal: Pan Afr Med J (2022)
Keywords: covid-19, case report, diabetes, mucormycosis, rhinocerebral
MeSH terms: COVID-19 / complications, COVID-19 / diagnosis, Diabetes Mellitus, Mucormycosis / diagnosis, Mucormycosis / therapy, Opportunistic Infections / diagnosis, Review, Case Reports, Humans, Treatment Outcome

The pandemic of coronavirus disease 2019 (COVID-19) still remains on an upsurge trend. The second and the waves of this disease have led to panic in many countries, and some parts of the world suffering from the fourth wave. In the midst of this pandemic, COVID-19 patients are acquiring secondary infections such as mucormycosis also known as "black fungus disease". Mucormycosis is a serious, but rare opportunistic fungal infection that spreads rapidly, and hence prompt diagnosis and treatment are necessary to avoid mortality and morbidity rate. We report in this paper, a case of a diabetic patient who presented with bilateral nasal obstruction, anosmia, and frontal headache diagnosed with rhinocerebral mucormycosis developing after COVID-19 infection with a favorable outcome after a medico-surgical treatment. Through this case, we aim to aware patricians of this possible association and the importance of early diagnosis to optimize treatment outcomes.