MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE.

MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene.

Osteoblastic metastasis from signet ring cell gastric cancer in a young male.

Bone metastasis is common in patients with lung, prostate, and breast cancers but it isn't common in stomach cancer. Gastric carcinoma infrequently metastasizes to the bone and rarely in an osteoblastic form. Herein we presented a rare case of signet ring cell gastric adenocarcinoma in early stage with osteoblastic metastasis.

Life-threatening angiomyxoma of the larynx.

Background: Angiomyxoma is a benign proliferative mesenchymal tumor and a very rare mass in the larynx. There is not enough information about the etiology, clinical finding, treatment and prognosis of laryngeal angiomyxoma.

Case Details: A 52 years old man presented with respiratory distress.

Hormone replacement therapy-related changes in the early postmenopausal period (critical window): an in vivo brain proton magnetic resonance spectroscopy study.

Aim: Findings from clinical studies in postmenopausal women with late initiation of hormone replacement therapy (HRT) that test whether HRT protects cognitive functions in women are inconsistent. The aim of this study was to investigate the effects of HRT on brain metabolite ratios when initiated in the early postmenopausal period (critical window).

Materials And Methods: Proton magnetic resonance spectrometry (1H MRS) was performed in 4 brain regions of 47 healthy postmenopausal women (21 received HRT, 26 did not).

Relation between radiographic BI-RADS scores and triple negativity in patients with ductal carcinomas.

Unlabelled: The aim of this study was to investigate association of radiographic (BI-RADS 4 and 5) results and prognostic factors of invasive ductal carcinomas with their histopathological subtypes. A total of 103 patients histopathologically diagnosed with invasive ductal carcinoma of breast with in last five years period were enrolled. Of them, 69 patients who had radiological reports in were included from registry of Radiology Department; Duzce University Training and Research Hospital archives.

Spectrum and prevalence of nodular thyroid diseases detected by ultrasonography in the Western Black Sea region of Turkey.

Objective: The aim of the study was to investigate thyroid diseases and the prevalence of goiter by ultrasonography (US) in a moderately iodine deficient area.

Material-methods: The MELEN Study is a prospective cohort study on the prevalence of thyroid diseases in Turkish adults. A total of 2233 subjects with a mean age of 50 (age range 18 to 92) were submitted to study.

Giant myoepithelioma of the soft palate.

Myoepitheliomas are benign salivary gland tumors and account for less than 1% of all salivary gland tumors. They are usually located in the parotid gland. The soft palate is very rare affected site.

The evaluation of carotid intima-media thickness and visceral obesity as an atherosclerosis predictor in newly-diagnosed polycystic ovary syndrome.

Purpose: Polycystic ovary syndrome (PCOS) is a common endocrine disorder which is associated with multiple risk factors for atherosclerosis. The aim of this study was to investigate the CIMT which is used in the early diagnosis of atherosclerosis and visceral obesity by ultrasound in newly diagnosed polycystic ovary syndrome with normal body mass index.

Materials And Methods: A case-control study was conducted on 25 PCOS women (18-30 years of age) and 25 controls.

Color Doppler Imaging of the Orbital Vessels in Ankylosing Spondylitis.

Purpose: To analyze the hemodynamic features of orbital blood flow velocities using Doppler ultrasonography in ankylosing spondiylitis (AS) patients, as well as to compare these results with those of healthy controls.

Methods: 33 AS patients and 32 healthy controls were consecutively included in the study groups. The same radiologist performed ocular blood flow measurements.

Dual diagnosis: rheumatoid arthritis and multiple sclerosis.

Juvenile rheumatoid arthritis (JRA) is the most common rheumatologic disease in children. Moreover, multiple sclerosis (MS) is the most frequent demyelinating disease and has been associated with various chronic inflammatory diseases. However, its association with JRA has not been frequently described.

The prevalence of fibromyalgia among patients with hepatitis B virus infection.

Fibromyalgia (FM) is a syndrome characterized by widespread and chronic musculoskeletal pain, fatigue, morning stiffness, and sleep disturbance. However, the etiopathogenesis of FM remains unclear. Various etiological factors have been suggested to trigger FM.

Minimally invasive treatment of giant haemangiomas of the liver: embolisation with bleomycin.

Purpose: The management of patients with giant haemangioma of the liver remains controversial. Although the usual treatment method for symptomatic giant haemangioma is surgery, the classical paradigm of operative resection remains. In this study, we evaluated the symptomatic improvement and size-reduction effect of embolisation with bleomycin mixed with lipiodol for the treatment of symptomatic giant hepatic haemangioma.

The rapid pull-back technique for navigation across a wide-necked aneurysm. a report of four cases.

Embolization of wide-necked and/or giant aneurysms may fail due to the inability to pass across the aneurysm neck. We describe the rapid bull-back technique used in four patients in which a small diameter microcatheter with the aid of a hydrophilic microguidewire was navigated along the inner surface of the aneurysm, making a loop in the dome, exiting the neck to reach distal intracranial vessels. After withdrawal of microguidewire, the microcatheter is pulled back rapidly up to a predetermined length.

May headache be the first sign of mutation in the MTHFR gene?

Background: Cerebral venous thrombosis (CVT) is a rare disease and it has different etiologies. Inherited or acquired prothrombotic state plays a key role in the development of CVT.

Methods: A 28-year-old man who presented to our emergency department with persistent headache and accompanied by complaints of nausea and vomiting over a week.

[Evaluation of carotis intima media thickness in chronic obstructive pulmonary disease patients].

Introduction: Chronic obstructive pulmonary disease (COPD) and atherosclerosis may occur due to similar risk factors and have a significant cause of morbidity and mortality. In this study to assess the relationship between COPD and atherosclerosis; carotid intima media thickness (CIMT) of COPD patients and adult healthy individuals with normal body mass index and metabolic parameters compared.

Materials And Methods: 2298 participants aged between 18-92; 46 patients diagnosed with COPD according to clinical features and pulmonary function tests the study, 47 healthy controls who do not have exclusion criteria were evaluated.