The evaluation of carotid intima-media thickness in children with familial Mediterranean fever

The aim is to investigate whether pediatric familial Mediterranean fever (FMF) patients have an increased risk of premature atherosclerosis and to determine the possible strength of association between atherosclerosis and Mediterranean fever (MEFV) gene mutation gene type. Demographic characteristics and MEFV mutations were defined in 49 children diagnosed with FMF (26 female, 23 male; mean age, 10.71 ± 3.69 years). Twenty-six age-, sex-, and body-mass-index-matched healthy children constituted the control group. We evaluated the blood counts and acute-phase proteins during attack-free periods. Mean C-reactive protein (CRP), serum amyloid-A (SAA), homocysteine (Hcy), lipoprotein-a (Lp-a), and common carotid artery intima-media thickness (CCA-IMT) were 10.75 ± 15.29 vs 4.03 ± 1.20, 23.22 ± 41.94 vs 3.53 ± 1.04, 10.36 ± 3.36 vs 8.64 ± 3.15, 20.84 ± 23.89 vs 8.56 ± 7.48, and 0.038 ± 0.007 vs 0.032 ± 0.004, respectively, and significantly higher than the mean values of control group (p < 0.05). However, no correlation was found between CCA-IMT and CRP, SAA, Hcy, and Lp-a. Twenty-nine patients had M694V mutation, and 13 patients had other mutations. There was no correlation between CCA-IMT and MEFV mutation subgroups. In conclusion, because of the nature of the disease, FMF patients should be considered to have an increased risk of early vascular alteration and atherosclerosis. For this reason, CCA-IMT measurement can be recommended as a noninvasive and early diagnostic method.     

Ruptured sinus of Valsalva aneurysm associated with noncompaction of the ventricular myocardium.

Rupture of a sinus of Valsalva aneurysm is a rare, but life-threatening cardiac abnormality that requires surgical correction when diagnosed, and is frequently associated with other congenital defects, particularly with ventricular septal defect, aortic valve regurgitation, and bicuspid aortic valve. We present the case of a 21-year-old man who had a ruptured aneurysm of the noncoronary sinus into the right atrium, a ventricular septal defect, a persistent left superior vena cava and a noncompaction of the ventricular myocardium diagnosed by two-dimensional echocardiography. Surgical repair was carried out and the patient made an uneventful recovery.     

Abdominal examination

The four short cases in the Clinical Examination give the candidate the opportunity to demonstrate the skills developed during basic training, including tailoring the clinical examination to difficult settings, such as a child of a difficult age, a bored child or a child who needs winning over quickly. The abdominal short case gives the candidate a chance to show their general approach to children and their families as much as their skill in detecting ascites.     

Reduced Albumin Dosing During Large-Volume Paracentesis Is Not Associated with Adverse Clinical Outcomes

Digestive Diseases and Sciences - LVP is used to manage diuretic-resistant ascites in cirrhotic patients. Albumin administration prevents complications including acute kidney injury and...     

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

PLA2G6‐associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin‐like phospholipase domain of the PLA2G6 protein.     

Flexible conceptual combination: Electrophysiological correlates and consequences for associative memory

When meaningful stimuli such as words are encountered in groups or pairs (e.g., “elephant‐ferry”), they can be processed either separately or as an integrated concept (“an elephant ferry”). Prior research suggests that memory for integrated associations is supported by different mechanisms than is memory for nonintegrated associations. However, little is known about the neurocognitive mechanisms that support the integration of novel stimulus pairs. We recorded ERPs while participants memorized sequentially presented, unrelated noun pairs using a strategy that either did or did not involve attempting to construct coherent definitions. We varied the concreteness of the first noun in each pair to examine whether conceptual combination instructions would induce compositional concreteness effects, or differences in ERPs evoked by the second noun as a function of the concreteness of the first noun. We found that the conceptual combination task, but not the noncombinatory encoding task, produced compositional concreteness effects on a late frontal negativity previously linked to visual imagery. Moreover, word pairs studied under conceptual combination instructions showed evidence of more unitized or holistic memory representations on associative recognition and free recall tests. Finally, item analyses indicated that (a) items with higher normed imageability ratings were rated by participants as easier to conceptually combine, and (b) in the conceptual combination task, ease‐of‐combination ratings mediated an indirect relationship between imageability and subsequent associative memory. These data are suggestive of a role of compositional imagery in the online formation of novel concepts via conceptual combination.     

The Relationship of Circulating Fetuin-A With Liver Histology and Biomarkers of Systemic Inflammation in Nondiabetic Subjects with Nonalcoholic Fatty Liver Disease

Background/Aims:

Fetuin-A, a glycoprotein with anti-inflammatory properties, plays an important role in counter-regulating inflammatory responses. It has also been associated with insulin resistance and metabolic syndrome. We aimed to investigate circulating concentrations of fetuin-A and its possible association with hepatic and systemic inflammation in nondiabetic subjects with nonalcoholic fatty liver disease (NAFLD).

Patients and Methods:

We included 105 nondiabetic male subjects with NAFLD [nonalcoholic steatohepatitis (NASH, n = 86) and simple steatosis (SS, n = 19)]. Plasma levels of fetuin-A and markers of inflammation [high-sensitive C reactive protein (hsCRP), tumor necrosis factor alpha (TNF-α), interleukin-6 (IL-6), and adiponectin] were measured by enzyme-linked immunosorbent assay method. Insulin sensitivity was determined by homeostasis model assessment of insulin resistance (HOMA-IR) index.

Results:

Fetuin-A was negatively correlated with age (r = −0.27, P = 0.006), however there was no association between fetuin-A and body mass index, waist circumference (WC), glucose, insulin, HOMA-IR, lipid parameters, and inflammatory markers. In addition, no significant association was observed between fetuin-A and histological findings including liver fibrosis.

Conclusion:

This study demonstrated that plasma fetuin-A levels are not correlated with the hepatic histology and systemic markers of inflammation in nondiabetic subjects with NAFLD. Our data also suggested that age is significantly associated with fetuin-A in this clinically relevant condition.     

Prevalence of Dyslipidemia and Associated Factors in Obese Children and Adolescents

Objective:Childhood-onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases (CVD) during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of CVD. This study aimed to evaluate the prevalence of dyslipidemia and related factors among obese children and adolescents.Methods:Obese patients aged between 2 and 18 years were included in the study. Serum concentrations of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL-C), high-density lipoprotein (HDL-C), fasting glucose levels, insulin, thyroid-stimulating hormone (TSH), free thyroxine (fT4), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and liver ultrasound findings were evaluated retrospectively.Results:Among 823 obese patients, 353 (42.9%) met the dyslipidemia criteria: 21.7% had hypertriglyceridemia, 19.7% had low levels of HDL-C, 18.6% had hypercholesterolemia, and 13.7% had high levels of LDL-C. Older age and/or high body mass index (BMI) were related to increased prevalence of dyslipidemia. Hepatosteatosis was more common among dyslipidemic patients. The frequency of insulin resistance (IR) and of higher levels of ALT and TSH were also detected in dyslipidemic patients. Patients with both dyslipidemia and grade 2-3 hepatosteatosis had higher levels of ALT, AST and TSH and lower levels of fT4.Conclusion:Prevalence of dyslipidemia is high in obese children, and hypertriglyceridemia is in the foreground. Higher levels of IR and more apparent abnormal liver function test results are observed in the context of dyslipidemia and hepatosteatosis coexistence. Metabolic and hormonal alterations related with thyroid functions may also be associated with dyslipidemia and hepatosteatosis in obese patients.