scholarly journals Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature

Haemophilia ◽  
2020 ◽  
Author(s):  
Joanna Zdziarska ◽  
Ewa Wypasek ◽  
Teresa Iwaniec ◽  
Rui Vilar ◽  
Marguerite Neerman‐Arbez ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Male Patient ◽  
Intracranial Bleeding ◽  
Review Of Literature ◽  
Homozygous Missense Mutation

scholarly journals A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

2020 ◽  
Vol Volume 13 ◽  
pp. 1613-1620
Author(s):  
Jie Chen ◽  
Shiying Luo ◽  
Ning Li ◽  
Huimin Li ◽  
Jinming Han ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Review Of Literature

AN UNUSUAL CASE OF NEW ONSET NEPHROPATHY IN A PATIENT OF PSORIASIS: CASE REPORT AND REVIEW OF LITERATURE

2021 ◽  
pp. 13-14
Author(s):  
VPS Punia ◽  
Apoorva Shetty ◽  
Prashant Prashant ◽  
Akash Bharti ◽  
Praveen Raman Mishra ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Male Patient ◽  
Renal Damage ◽  
Unusual Case ◽  
Review Of Literature ◽  
Immune Mediated ◽  
Different Types ◽  
Glomerular Lesions ◽  
New Onset

Psoriasis is known to cause chronic inammatory disorder of the skin through an immune mediated mechanism, it may be complicated by different types of glomerular lesions. Three different mechanisms have been implicated by which psoriasis can cause renal damage: immune-mediated renal damage, drug-related renal damage and chronic renal damage. This report presents a case of 35 years old male patient with extensive psoriasis, who presented to our hospital with nephrotic syndrome

scholarly journals AGGRESSIVE MESENTRIC FIBROMATOSIS: A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 79-82
Author(s):  
Rohan Shetty ◽  
Shubha Bhat ◽  
Rajesh Ballal ◽  
Pramod Makannavar ◽  
Anil Kumar K. N.
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Rare Case ◽  
Clinical Presentation ◽  
Aggressive Fibromatosis ◽  
Definitive Diagnosis ◽  
Review Of Literature ◽  
Therapeutic Challenge ◽  
Rare Case Report ◽  
Small Intestinal

AbstractMesentric fibromatosis is a proliferative fibroblastic neoplasm of the small intestinal mesentery with varied clinical presentation. Giant mesentric fibromatosis is uncommon and its rarity poses a diagnostic and therapeutic challenge. This paper presents a recurrent aggressive fibromatosis in a 38 year old male patient, who had initially undergone a laparotomy outside for mass abdomen but only pus was evacuated and definitive diagnosis was not made.

scholarly journals LOW-GRADE MYOFIBROBLASTIC SARCOMA OF THE LARYNX: CASE REPORT AND REVIEW OF LITERATURE

2014 ◽  
Vol 57 (4) ◽  
pp. 162-164 ◽  
Author(s):  
Petr Kordač ◽  
Dimitar Hadži Nikolov ◽  
Katarína Smatanová ◽  
David Kalfeřt
Keyword(s):  
Case Report ◽  
Head And Neck ◽  
Male Patient ◽  
Neck Region ◽  
Clinicopathological Characteristics ◽  
Low Grade ◽  
Review Of Literature ◽  
Head And Neck Region ◽  
Myofibroblastic Sarcoma ◽  
Male Predominance

Low-grade myofibroblastic sarcoma (LGMS) is a very rare, atypical myofibroblastic tumor with fibromatosis-like features with predilection mostly in head and neck region. LGMS occurs primarily in adult patients with a slight male predominance. Only few cases of LGMS affecting the larynx have been reported in literature to this date. We describe a case of low-grade myofibroblastic sarcoma of the larynx in a 40-year-old male patient. The clinicopathological characteristics, immunohistochemical findings and treatment are discussed.

Hypothenar hammer syndrome in a 22-year-old male patient: a case report and review of literature

Vascular ◽  
2011 ◽  
Vol 20 (2) ◽  
pp. 100-103 ◽  
Author(s):  
Albeir Y Mousa ◽  
Patrick A Stone ◽  
Aravinda Nanjundappa ◽  
John E Campbell ◽  
Ali F AbuRahma
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Distal Embolization ◽  
Hypothenar Hammer Syndrome ◽  
Hand Ischemia ◽  
Complete Reversal

Hypothenar hammer syndrome is a rare condition with a peculiar presentation that aids in making a clinical diagnosis. We present a 22-year-old male patient who presented with critical hand ischemia secondary to a distal ulnar aneurysm with distal embolization. The patient was treated with an aneurysmectomy with cephalic vein interposition graft, which resulted in complete reversal of his hand ischemia. This case report outlines the clinical presentation of this rare condition, along with a recent review of the literature.

scholarly journals Thyroid cancer in Gardner’s syndrome: Case report and review of literature

2012 ◽  
Vol 01 (01) ◽  
pp. 43-47 ◽  
Author(s):  
Sachin B. Punatar ◽  
Vanita Noronha ◽  
Amit Joshi ◽  
Kumar Prabhash
Keyword(s):  
Thyroid Cancer ◽  
Case Report ◽  
Familial Adenomatous Polyposis ◽  
Male Patient ◽  
Gardner's Syndrome ◽  
Endocrine Tumors ◽  
Adenomatous Polyposis ◽  
Review Of Literature ◽  
Gardner’S Syndrome

AbstractGardner′s syndrome is a variant of familial adenomatous polyposis. A multitude of extra-colonic manifestations including various endocrine tumors have been associated with this syndrome, the commonest of which is thyroid cancer. Majority of the patients with thyroid cancer and Gardner′s syndrome are females. Here we describe a male patient with Gardner′s syndrome who subsequently developed thyroid cancer.

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