Are there any differences among psoriasis, psoriatic arthritis and rheumatoid arthritis in terms of metabolic syndrome and cardiovascular risk factors?

OBJECTIVE: Although the frequency of metabolic syndrome has been studied separately in psoriasis, psoriatic arthritis (PsA), and rheumatoid arthritis (RA) patients, there is no study that compares the prevalence of metabolic syndrome in all three diseases. The purpose of this study is to evaluate the relationship between metabolic syndrome (MetS) and chronic low-grade inflammatory diseases, and to determine the frequency of MetS and insulin resistance in psoriasis and PsA as compared to RA. METHODS: A total of 155 patients were included in this cross-sectional study. Fifty patients who were diagnosed with psoriasis, 55 PsA patients who were diagnosed according to the CASPAR criteria, and 50 seropositive RA patients who were diagnosed according to the ACR/EULAR 2010 classification criteria were included in this study. MetS was diagnosed by the 2005 criteria of International Diabetes Federation. The cardiovascular risk factors and parameters associated with MetS were evaluated. RESULTS: The patients' mean age was significantly higher in the RA. MetS was determined in 33.5% of all patients and MetS and insulin resistance showed no significant difference among the three groups (psoriasis: 36%, PsA: 29%, RA: 36%; p: 0.684 and psoriasis: 70%, PsA: 64%, RA: 66%, respectively; p: 0.785). Triglyceride levels were higher in psoriasis and PsA as compared to the RA (psoriasis: 34%, PsA: 32.7%, RA: 16%, respectively; p: 0.045). The frequency of hypertension was 38% in the RA, which was higher than PsA and psoriasis (p: 0.011). CONCLUSION: In all three groups, the prevalence of MetS was shown to be higher than the general population. The lack of difference between these groups may be due to the small number of patients, the retrospective study design, and the inequality of the population with respect to age and gender.

Effects of the ischemic preconditioning on anastomotic healing in laparoscopic colon operations.

BACKGROUND: Previous experimental studies have repeatedly demonstrated the potential protective effect of remote ischemic preconditioning (IPC) on colon anastomosis. The purpose of this experimental study was to investigate the possible positive effects of IPC by interval insufflations in laparoscopic colon operations. METHODS: Thirty Wistar-albino rats were randomized into 3 groups. Colonic transsection and anastomosis were performed in the control group. In the laparoscopic colon operation without IPC group, the intra-abdominal pressure was raised to 14 mm Hg for 60 minutes, and then laparotomy and colonic anastomosis were performed. In the IPC group, the intra-abdominal pressure was raised to 14 mm Hg for 5 minutes, followed by desufflation. Laparotomy and colonic anastomosis were performed exactly as in the non-IPC group. On the seventh postoperative day, all animals were killed, and blood and tissue samples were obtained. Anastomotic healing and inflammatory responses were determined by histopathologic examination and by measuring the anastomotic bursting pressure, tissue hydroxyproline level, and tissue and serum nitric oxide, malondialdehyde (MDA), and catalase activity levels. Differences with P-values of <0.05 were considered to be statistically significant. RESULTS: Although the best anastomotic healing was detected in the control group, anastomotic healing was better in the IPC group than that in the non-IPC group. In terms of anastomotic bursting pressure, plasma MDA, serum catalase activity, and tissue nitric oxide levels, the IPC group was superior to the non-IPC group. No significant differences were found between the control and IPC groups, except in the plasma MDA levels. CONCLUSIONS: Use of IPC with colon anastomosis had positive effects on wound healing and may serve as a safe method to reduce the adverse effects of ischemia and wound healing in laparoscopic colon operations.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals carry de novo mutations. Detection of disease causing mutations in the NF1 gene allows presymptomatic and prenatal diagnosis, but is complex and time-consuming due to the large size of the gene, the existence of pseudogenes, the lack of clustering of the mutations in a particular region of the gene, and the variability of clinical findings. Because the time for investigations in prenatal diagnosis is restricted, detection of disease-associated NF1 alleles is more rapid and useful especially for familial cases. Therefore, genetic diagnosis of NF1 is frequently performed by linkage analysis. In our laboratory, 37 families were characterized with this method, of which two requested prenatal diagnosis. One fetus was found to be under NF1 risk. However, parents elected to continue pregnancy: the child is now 2.5 years old and has NF1 features. The phenotypic variability and the absence of genotype-phenotype correlation create difficulties in reproductive decisions for NF1 families, underlining the importance of appropriate counseling and detailed discussion of possible outcomes before genetic testing of the fetus.

Evaluation of neuronal damage following hypoxic-ischaemic brain injury in acute and early chronic periods in neonatal rats.

This study was undertaken to investigate the effects of neonatal cerebral hypoxic-ischaemic brain injury (HIBI) in acute and early chronic phases in the rat. HIBI was induced in 7-day-old rat pups by ligation of the right common carotid and then the pups were exposed to 1 h of hypoxia in 8% oxygen. They were divided into two groups: 1-day (acute phase, in the first 24 h) and 5-day (early chronic phase, 120 h). Neuropathological evaluation was performed using the hippocampus, cerebral cortex and basal ganglia on the coronal plane. The following values were obtained: (i) the ratio of the infarcted area; (ii) hemispheric atrophy/asymmetry; (iii) patchy lesions confined to the thalamus, caudate and putamen; (iv) the ratio of damaged neurons to all neurons; and (v) the percentage of apoptotic neurons relative to the total neurons in all brain areas. HIBI-induced global cerebral damage and cellular damage findings did not significantly differ between the two groups. However, they showed a tendency to recover/deteriorate in both acute and early chronic phases. The ratio of ipsi- and contra-lateral hemisphere infarct areas (20.7 and 15.7% vs. 40.1 and 26.7%, respectively), basal ganglia patchy lesion ratio (27.5 vs. 36.7%) and hemispheric atrophy/asymmetry (92.4 vs. 84.7%) were found to be lower in the rat pups in the chronic phase than those in the acute phase. In contrast, increases in the ratio of damaged neurons (16.7 vs. 13.3% in the cerebral and dorsal hippocampus, respectively) and in the ratio of apoptotic neurons (ipsi-lateral: 18 vs. 6%; contra lateral hemispheres: 3.5 vs. 1.7%, respectively) were recorded. It is concluded that cellular damage tends to deteriorate (damaged and apoptotic neurons) while global damage (cerebral infarct and patchy damage) improves with the progression of HIBI. However, further studies are needed in order to elucidate this process.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). METHODS: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis. RESULTS: We identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. CONCLUSIONS: Overall, 11% of subjects had AHI1 mutations, while approximately 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype-phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease.

Giant axonal neuropathy: clinical and genetic study in six cases.

BACKGROUND: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1. AIMS: To search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with them. METHODS: Linkage and mutation analyses were performed in six affected patients from three consanguineous families. These patients were also investigated by cranial magnetic resonance imaging (MRI) and electroencephalography (EEG). Electromyography (EMG) was performed in heterozygous carriers from family 1 and family 3. RESULTS: Linkage to 16q24.1 was confirmed by haplotype analysis. GAN mutations were identified in all families. Family 1 had the R293X mutation, previously reported in another Turkish family. Families 2 and 3, originating from close geographical areas, shared a novel mutation, 1502+1G>T, at the donor splice site of exon 9. All patients displayed a common phenotype, including peripheral neuropathy, cerebellar ataxia, and frizzly hair. Cranial MRI showed diffuse white matter abnormalities in two patients from family 1 and the patient from family 3, and minimal white matter involvement in the patient from family 2. EMG of a heterozygous R293X mutation carrier showed signs of mild axonal neuropathy, whereas a 1502+1G>T mutation carrier had normal EMG. EEG abnormalities were found in three patients. CONCLUSION: These findings highlight the association of CNS involvement, in particular white matter abnormalities, with peripheral neuropathy in GAN. The phenotypical consequences of both mutations (when homozygous) were similar.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

Tissue inflammatory response in subacute sclerosing panencephalitis (SSPE).

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-gamma, and tumor necrosis factor-alpha (TNF-alpha) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course.

A case of Sandifer's syndrome with hand tremor.

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.

Weight gain associated with valproate in childhood.

Weight gain is a common side effect of valproate treatment. Several mechanisms have been suggested for its pathophysiology; of these, impairment of beta-oxidation of fatty acids and increased insulin secretion have been supported by clinical studies. To investigate whether changes in carnitine and insulin levels had a role in the weight gain occurring with valproate treatment in children, 20 patients with epilepsy were randomly assigned to receive either carnitine or placebo supplementation in addition to valproate. After a follow-up period of 3 months, weight gain was observed in both groups. The mean insulin concentration and insulin/glucose ratios increased. Weight gain did not correlate with carnitine levels. These results suggest that weight gain during valproate treatment is not related to a decrease in carnitine levels. However, an increase in insulin levels together with a decrease in glucose levels may cause weight gain, possibly by stimulating appetite.

A case of late infantile neuronal ceroid lipofuscinosis associated with precocious puberty.

Neuronal ceroid lipofuscinosis is one of the hereoffegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our knowledge, this association has not been reported before. The association could be due to an underlying disturbance of hypothalamic-pituitary gonadal function, or to coincidence.

Syncope as a first sign of seizure disorder.

We studied the long-term follow-up of patients with the diagnosis of "syncope of unknown origin," and their progression to epilepsy to gain a better understanding of the relationship between syncope and epilepsy, and to determine whether findings of the first syncopal attack have prognostic significance in relationship to the onset of epilepsy or not. Eighteen patients with the diagnosis of syncope of unknown origin were evaluated for the possibility of becoming epileptic during a 4-year period, and four patients showed characteristic seizure disorder. There were no clinical or laboratory features that differentiated them from the nonepileptic group, except that they were all girls. The interval between the first syncopal attack and the typical epileptic seizure ranged between 7 and 19 months. Syncope of unknown origin could be the first sign of an epileptic disorder, especially in girls. Long-term follow-up extending up to 1 year is necessary to disclose the risk of becoming epileptic.

Apoptosis in brain biopsies of subacute sclerosing panencephalitis patients.

Subacute sclerosing panencephalitis (SSPE) is associated with inflammatory infiltration, neuronal loss, and demyelination. The pathogenesis of these changes is unclear. We examined DNA fragmentation and Bcl-2 expression in brain biopsies of nineteen SSPE patients to investigate the role of apoptosis in tissue damage. DNA fragmentation was present in oligodendroglia, and, in tissues with neuronal loss, in neurons. Reactive astrocytes had no DNA fragmentation, but strong Bcl-2 expression. These results suggest apoptosis as one of the mechanisms for oligodendroglial and neuronal death in SSPE.

Arteriovenous fistula: a cause of torticollis.

Torticollis is a symptom that may represent a wide spectrum of disorders ranging from a simple etiology to a life-threatening pathology. Pediatricians have to suspect central nervous system abnormalities whenever faced with torticollis. The authors report an arteriovenous fistula at the craniocervical junction in a patient presenting with torticollis.

Clinical experience on headache in children: analysis of 92 cases.

We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) diagnostic criteria. Migraine was the most frequent cause of headache and the rest in decreasing order were: tension-type headache, sinusitis, and epilepsy. The percentage of the findings relevant to headache in computed tomographic (CT) scans, magnetic resonance images (MRIs), Waters' projection (radiographs), and electroencephalograms (EEGs) were respectively 4.2%, 33.3%, 16%, and 25%. Neuroimaging studies are not necessary in the routine evaluation of patients with headache unless there is an abnormality in the findings. When it is needed, MRI, which has higher yield, can take the place of CT scanning. The most important point is taking a proper history of headache and making a thorough physical and neurologic examination of the patient.

Cardiorespiratory function in Duchenne and Becker muscular dystrophy.

The purpose of this study was to investigate the cardiorespiratory function in Duchenne (DMD) and Becker muscular dystrophy (BMO) patients and to determine whether there is a correlation between these functions and muscular strength. The study involved 32 patients with progressive muscular dystrophy (28 DMD and four BMD). The mean age of the patients was 9.6 +/- 3.5 years. Cardiac investigations were performed in all of the patients, and pulmonary function tests were obtained in 16 cases. In five cases (31%), vital capacity (VC) was less than 80 percent of the predicted value. There was a good correlation between VC and muscular strength. There were various cardiologic findings in 50 percent of the cases with DMD. Electrocardiographic changes were present in 43 percent of the patients. Left ventricular systolic function in the patients who could not walk was significantly lower than that of the patients who could walk. There may be some unknown mechanisms that preserve left ventricular function relatively in the normal range in spite of cardiac involvement.

Myasthenia gravis in childhood.

Clinical features, serum acetylcholine receptor antibody (AChRAb) titres and course were reviewed in a series of 25 congenital (CMG) and 30 juvenile (JMG) myasthenia gravis cases to recognize characteristics of childhood-onset myasthenia and its subgroups. The initial symptom for CMG is ptosis accompanied or followed by generalized weakness; myasthenic crises do not occur and spontaneous remissions are rare. In JMG, the distribution of weakness remains the same, but the severity fluctuates: spontaneous remissions (6 patients) and myasthenic crises (10 patients) are observed. Good response to anticholinesterase drugs is slightly more frequent in JMG (62 versus 41%). AChRAbs were present in 9/26 JMG tested, girls with onset after 11 years being more likely to be Ab-positive. Since patients with autoimmune myasthenia and a young age of onset are often seronegative, clinical features such as changing distribution of weakness, fluctuating severity, or response to treatment might be considered as supportive criteria for differentiating JMG from CMG.

Neuronal migration disorders presenting with mild clinical symptoms.

Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. Magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.