A Heterozygous Mutation M694V in the MEFV Gene and HLA-B27 Negative Spondyloarthritis: The Chicken Egg Paradox?
There is evidence that the familial Mediterranean gene (MEFV) M694V mutation plays a role in the susceptibility to Spondyloarthritis (SpA). There is an increased prevalence of SpA among Familial Mediterranean fever (FMF) patients, especially in human leukocyte antigen (HLA) B27 negative patients carrying the MEFV M694V mutation.
Intestinal Cystic Pneumatosis : Rare Case
Intestinal cystic pneumatosis is a rare condition characterized by the presence of gaseous cysts in the intestinal wall.
Pontocerebellar Hypoplasia: Literature Review and Clinical Study
Pontocerebellar Hypoplasia (PCH) refers to a group of rare, progressive, and hereditary neurodegenerative disorders with prenatal onset.
A Bruise as First Manifestation of Cutaneous Angiosarcoma
Cutaneous angiosarcoma is a soft tissue sarcoma that presents as a violaceous plaque, resembling a persistent bruise on the head and neck. The hematoma-like lesions are pitfalls that could be the first spy of malignant vascular tumors. The low survival rates of cutaneous angiosarcoma require a recognition as early as possible. We report a case of misdiagnosed cutaneous angiosarcoma of the head, which developed after a car crash and that, was firstly diagnosed as bruise.
The Diagnosis and Treatment of Robert’s Uterus: A Case Report and Literature Review
Robert’s uterus is a very rare malformation and are associated with a severe dysmenorrhoea. It is rarely reported.
Early Repair of Vesicovaginal Fistula
Vesicovaginal fistula is a common acquired fistula in obstetrics and gynecology. With the development of obstetric technology, the main cause of vesicovaginal fistula is benign gynecological operation. About 80% of vesicovaginal fistula the caused by abdominal hysterectomy. The treatment of vesicovaginal fistula is surgical repair, which can be done through abdominal (open or minimally invasive) and vaginal. It is usually wait 3-6 months for abdominal or vaginal repair to improve the success rate of surgical repair. Howerer, early repair of vesicovaginal fistula is rare.
Forearm Cutaneous Metastasis of Rectal Adenocarcinoma: A Case Report
Cutaneous metastases are a rare entity and those resulting from metastatic colorectal cancer account for 4-6,5% of cases. Many mechanism for cutaneous metastases have been hypothesized. They could occur through lymphatic and hematogenous spread, direct extension of tumor and for surgical implantation.
My Experience with Ketamine Therapy
Ketamine is a drug with a long clinical history as an anesthetic and is approved by the US Food and Drug Administration (FDA) for that use. More recently, it’s been getting attention as a drug that may be of value in the treatment of depression, anxiety disorders, PTSD, OCD and other mood disorders [1-3].
Aorto-Esophageal Fistula and Metallic Stent
Esophageal metallic stents are indicated in the palliative treatment of malignant dysphagia [1]. The ones usually used are covered or partially covered. They have a low mortality rate directly associated (0.5-2%) [2].
A Mild form of Familial Mediterranean Fever Associated with aPolymorphisms C.Nt 1588,-69G>
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene. FMF is characterized by recurrent fever crisis combined with serosal, synovial, or cutìaneous inflammation. Until now more than 304 sequence variants have been recorded. Here, we describe a case of mild FMF confirmed by analysis of the MEFV gene, characterized by polymorphism c1588-69G>A.