ABSTRACT
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. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leul50 ser fsX11) on exon 6 of MLC1 gene is presented.
Subject(s)
Cysts/genetics , Hereditary Central Nervous System Demyelinating Diseases/genetics , Membrane Proteins/genetics , Child, Preschool , Cysts/pathology , Cysts/physiopathology , Exons/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Hereditary Central Nervous System Demyelinating Diseases/physiopathology , Homozygote , Humans , Male , MutationABSTRACT
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. BMI was matched volunteer controls. Carotid intima media thickness (CIMT) and fat distribution as visceral fat thickness (VFT) with subcutaneous fat thickness (SFT) were measured by ultrasound. After, visceral fat ratio (VFR) fat ratio (VFR) was calculated using VFT divided by SFT. The variables were compared using the χ(2)-test and Student's t test. RESULTS: Comparing women with PCOS to the control group showed that CIMT was similar in both groups (p=0.84). The VFT in the PCOS group was higher than the control group (p=0.048). Whereas, the SFT was higher in the control group when compared to women with PCOS (p=0.007). The VFR was significantly higher in women with PCOS when compared to the control group (1.12 ± 0.38 vs. 0.81 ± 0.34; p=0.005). CONCLUSIONS: CIMT which used as early atherosclerosis predictors have not increased in newly diagnosed PCOS women. Body fat distribution was observed in visceral area in the newly diagnosed PCOS women. VFR follow up may provide benefit as a quantitative method for the assessment and follow up of visceral obesity in women with PCOS.
Subject(s)
Atherosclerosis/diagnosis , Carotid Intima-Media Thickness , Obesity, Abdominal/complications , Polycystic Ovary Syndrome/complications , Adolescent , Adult , Atherosclerosis/complications , Atherosclerosis/pathology , Case-Control Studies , Female , Humans , Polycystic Ovary Syndrome/diagnosis , Polycystic Ovary Syndrome/pathology , Risk Factors , Young AdultABSTRACT
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. This maneuver results in elimination of the loop, straightening the microcatheter to allow an exchange procedure for another device to cross the neck distally and continue the embolization procedure. The rapid pull-back technique is useful during the endovascular treatment of wide-necked and/or giant aneurysms as it helps to achieve reliable access to the distal parent vessel with the microcatheter. This is of increasing importance since an increasing number of aneurysms will be treated in the future with refinements in various intracranial stents.
Subject(s)
Catheterization/instrumentation , Catheterization/methods , Endovascular Procedures/instrumentation , Endovascular Procedures/methods , Intracranial Aneurysm/therapy , Stents , Adult , Aged , Catheters , Cerebral Angiography , Female , Humans , Intracranial Aneurysm/diagnostic imaging , Male , Middle Aged , Treatment OutcomeABSTRACT
AIM: The purpose of our study was to determine the association between smoking habit, goiter, thyroid functions and ultrasonographic nodularity in moderately iodine deficient area. METHODS: The MELEN study is a prospectively designed survey on the prevalence of thyroid diseases in Turkish adults. A total of 2298 subjects with a mean age of 50 (age range 18 to 92) were interviewed. Smoking habits were registered from questionnaires and subsequent interviews with a physician. Thyroid ultrasonography was performed and interpreted by the same experienced physician, using the same equipment. After an overnight fast, blood samples were collected from all the study subjects for the determination of serum free thyroxine, thyroid stimulating hormone (TSH) were measured. RESULTS: Mean thyroid volumes of current smokers were significantly lower than either former or never smokers (P=0.014). There were no difference according to smoking habits on goiter and established multinodularity in current smokers (P<0.05). Heavy smokers (>20 pack/year) had higher thyroid volumes, higher goiter and multinodular goiter (MNG) prevalence than moderate smokers (P<0.001). Thyrotoxicosis (TSH<0.35) cases were more frequent among heavy smokers than moderate smokers (14.1% versus 8.2%, P<0.001; respectively). Heavy smoking independently predicted goiter (odds ratio: 1.459 [95% confidence interval: 1.029 and 2.068]; P=0.034). CONCLUSION: Heavy smoking was associated with increased prevalence of thyroid multinodularity and goiter in respect to moderate smoking. No association was found between smoking habit and thyroid dysfunction.
