Novel Pathogenic Variant of Fumarate Hydratase in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Case Report
1.1. Background: Hereditary leiomyomatosis and renal cell car cinoma syndrome (HLRCC) is a rare genetic disease, which is caused by the mutation of fumarate hydratase (FH) gene and in herited by autosomal dominance.
Histomorphological Patterns of Hysterectomy Specimens in A Tertiary Care Hospital: A Two-Year Study
1.1. Introduction: Hysterectomy is the second most common gy necological surgery next to caesarean section. The indications for hysterectomy may vary from one region to another and histomor phological pattern may also vary.
A Valve Repair after Infective Endocarditis Secondary to Perforation Caused by Streptococcus Gordonii – A Case Report and Literature Review
We report a case of infective endocarditis in a patient with congen ital heart valve lesions accompanied by Streptococcus gordonii in fection. A 61-year-old man presented with recurrent fever for four months. Immune system and myelopoietic disorders and tubercu losis were all ruled out as possible causes of the fever. He was diag nosed with subacute Infective endocarditis (IE) after blood culture analysis, which revealed presence of a Gram-negative bacterium – Streptococcus gordonii, combined with his history of precordial valve disease and cardiac ultrasound as well as a four-month histo ry of fever.
Loss of Taste, Smell and Oral Manifestations in COVID-19
COVID 19 mainly affects the respiratory, gastrointestinal and neurological systems but it also involves the oral cavity, olfactory and integumentary system. The oral manifestations of COVID 19 along with inflammatory response of surrounding tissues are due to angiotensin converting enzymes (ACE 2) and Trans membrane serine protease (TMPRSS 2). ACE 2 and TMPRSS 2 play a key role in virus transmission through saliva and shows its expression in the salivary glands, oral mucosal epithelium.
Multiple Meningiomas: Case Report and Review of Literature
We present a case of a 63-year old man with multiple meningi omas, with no evidence of neurofibromatosis 2
Eosinophilic Ascites Due to Eosinophilic Gastroenteritis: A Case Report and Review
Eosinophilic gastroenteritis (EGE) is a rare disease characterized by the presence of gastrointestinal symptoms with an abnormal eosinophilic infiltrate of the intestinal wall and exclusion of oth er causes of secondary eosinophilic infiltration. EGE has various gastrointestinal symptoms depending on the depth of eosinophilic infiltration of the bowel wall: mucosal, muscular, or subserosal. In particular, EGE with ascites is uncommon among them, and mainly appeared in subserosal type.
A Rare Case of Cortical Blindness Following Cysticercal Encephalitis in a Child
Neuro-cysticercosis, a parasitic infection of the brain caused by T. solium, is the most common central nervous system parasitosis globally. Seizures, headaches, hydrocephalus and varying degrees of loss of consciousness are common manifestations. Most patients have few intracranial lesions but few present with encephalitic fea tures due to widespread multiple intracranial lesions. We report a one-year-old boy, who presented with low-grade fever, altered sensorium, seizures and features of raised intracranial tension.
Acute ST-Elevation Myocardial Infarction in a 32-Year-Old Male Less than 2 Months after a Normal Coronary Computed Tomography Angiography
1.1. Background: Acute myocardial infarction (AMI) is an un common finding in young patients under age 35 and determination of etiological factors can be challenging. Coronavirus disease-2019 (COVID-19) and misuse of androgenic anabolic steroids (AAS) have both been associated with thrombotic events.
Epithelioid Angiosarcoma of Masticator Space: A Case Report of CT Manifestations and Follow-Up
Epithelioid Angiosarcoma (EA) is a special subtype of angiosar coma, which is common in skin and connective tissue, and its in cidence reaches the peak in men aging over 60 years old. EA oc curring in masticator space was very rarely reported. We reported EA in a young woman with a lesion located in the right masticator space. Plain Computed Tomography (CT) scan showed irregular blocky soft tissue density shadow with unclear boundary. After enhancement, the lesions showed obviously uneven enhancement in the arterial phase, while the lesions showed uneven decreased enhancement in the venous phase, and there was necrotic tissue with no enhancement.
A New Missense Mutation of SPTBN2 with Spinocerebellar Ataxia Type5: A Case Report
1.1. Background: Spinocerebellar ataxia type 5 (SCA5), domi nant spinocerebellar ataxia caused by mutations in the SPTBN2 gene, SCA5 is clinically described as a slowly progressive cere bellar ataxia with little involvement of the brainstem or spinocere bellar tract or brain, occurring mainly in adulthood.