Congenital non-familial unilateral basaloid follicular hamartoma

Basaloid follicular hamartoma is not a well-recognized clinical entity and has often been diagnosed as trichoepithelioma or basal cell carcinoma. It is a unique benign follicular tumour which comprises a variety of clinical manifestations. We present the case of a 24-year-old male with unilateral basaloid follicular hamartoma present at birth and later misdiagnosed as basal cell carcinoma. Histological features of basaloid follicular hamartoma are not always diagnostic and clinico-pathological correlation is particularly important to distinguish this benign hamartoma from other basaloid tumours including basal cell carcinoma. Continuous follow-up of our patient did not reveal any clinical or histological malignant transformation.     

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV mutations in children with juvenile idiopathic arthritis (JIA). In this study, children with JIA, who had no typical symptoms of FMF, were screened for the mutations in exons 2 and 10 of the MEFV gene by direct sequencing. A total of 96 children, 56 girls (58.3 %), with a median age of 11 years (2–18 years) were included. Patients were classified according to JIA subgroups as oligoarthritis in 43 (44.8 %), rheumatoid factor-negative polyarthritis in 22 (22.9 %), rheumatoid factor-positive polyarthritis in 2 (2.1 %), systemic arthritis in 12 (12.5 %) patients, enthesitis-related arthritis in 16 (16.7 %), and psoriatic arthritis 1 (1.04 %). A total of 31 children (32.3 %) had MEFV mutations: 25 heterozygous, 2 homozygous, and 4 compound heterozygous. There were 22 (11.4 %) exon 10 mutations (M694V, R761H, K695R, V726A, R653H) and 15 (7.8 %) exon 2 mutations (E148Q, G304R, E148V, T267I). The allele frequencies of MEFV mutations were found to be 19.27 %, which is higher than the general population [p?=?0.03, (odds ratio (OR):1.93, 95 % confidence interval (CI): 1.09–3.41)]. MEFV mutation carrier rates were significantly higher in antinuclear antibody (ANA) negative than in ANA positive patients [p?=?0.01, (OR: 0.25, 95 % CI: 0.085–0.74)] and in males than in females [p?=?0.001, (OR: 0.197, 95 % CI: 0.078–0.495)]. Also, there was a statistically significant difference between the MEFV mutation carrier rates and the subgroups of JIA (p?=?0.005). Conclusion: These findings suggest that mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.     

The long-term oncological outcomes of the 140 robotic sphincter-saving total mesorectal excision for rectal cancer: a single surgeon experience

Journal of Robotic Surgery - Robotic surgery became more popularly in the colorectal surgical field. The aim of the study was to evaluate of the oncological outcomes which patients who underwent...     

Gastroesophageal reflux disease in a low-income region in Turkey

OBJECTIVES: Detailed population-based data regarding the prevalence and symptom profile of gastroesophageal reflux disease (GERD) in underdeveloped and developing Caucasian countries are lacking. The aim of this study was to determine the prevalence and clinical spectrum of GERD in a low-income region in Turkey. METHODS: We used a previously validated reflux questionnaire, which was translated into Turkish and culturally adapted. The questionnaire was applied to 630 randomly selected participants greater than 20 yr old living in a population of 8,857 adults, with a low mean income of 75 dollars/person/month. The reliability and reproducibility of the questionnaire were calculated using the kappa statistic (test-retest). Endoscopy and/or 24-h intraesophageal pH monitoring were used to ascertain its validity in identifying patients with reflux. RESULTS: The prevalence of GERD symptoms was 10% for heartburn, 15.6% for regurgitation, and 20% for either symptom experienced at least weekly (95% CI). Heartburn and regurgitation were associated with noncardiac chest pain (37.3%), dysphagia (35.7%), dyspepsia (42.1%), odynophagia (35.7%), globus, hoarseness, cough, hiccup, nausea, vomiting, belching, and NSAID use, but not with body mass index in both frequent and occasional symptom groups. The prevalence of heartburn symptoms, but not regurgitation, increased significantly with age. CONCLUSIONS: The prevalence of GERD in a low-income population in Turkey was similar to that of developed countries, although with a different symptom profile, namely, a lower incidence of heartburn and a higher incidence of regurgitation and dyspepsia. These findings support the contention that there are a large number of patients worldwide in underdeveloped nations with poorly recognized and largely undertreated GERD.     

Significant elevation of serum soluble CD14 levels in patients with brucellosis

Activation of macrophages represents one of the initial events in innate immunity to intracellular infections. CD14 is expressed principally by cells of monocyte/macrophage lineage and plays a pivotal role in innate recognition of bacterial cell wall components, particularly lipopolysaccharides. We measured serum concentrations of soluble CD14 (sCD14) in serum samples obtained from 37 patients with brucellosis and 36 healthy controls. Serum levels of sCD14 were significantly increased in patients with brucellosis compared with those in healthy controls (P < 0.001). Re-analysis of serum samples after treatment in 25 patients demonstrated that treatment did not result in any significant decline in sCD14 levels. Despite a limited study population, these findings may implicate CD14 signaling as an important component of the initial anti-brucellar host response and suggest that activation of mononuclear phagocytic system is sustained even following effective treatment.     

Two rare mutations in Turkey: IVS I.130(G-C) and IVS II.848(C-A)

Beta-thalassemia, an autosomal recessive disease, results from mutations of the beta-globin gene. More than 40 different mutations found in Turkish beta-thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes beta-thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with beta-thalassemia major and HbS/beta-thalassemia respectively. We performed reverse dot blot hybridization method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G-C) homozygous, the other was HbS/IVS II.848 (C-A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with beta-globin gene defects that are very rare.     

Comparison of the first dose response of fosinopril and captopril in congestive heart failure: a randomized, double-blind, placebo controlled study

The purpose of this study was to compare the safety and tolerability of recommended initial doses of fosinopril (FOS) with those of captopril (CAP), in diuretic-treated, salt depleted "high risk" patients with congestive heart failure. Thirty patients were randomized in a double blind fashion to receive a single dose of either FOS 10 mg, CAP 6.25 mg or placebo. CAP produced a significant early and brief fall in BP, while the first-dose hypotensive response with FOS did not differ significantly from placebo. Baseline plasma angiotensin converting enzyme (ACE) activity was similar in all groups. Only CAP showed an acute and significant fall in plasma ACE activity, whereas FOS and placebo did not change ACE activity. There was no correlation between mean arterial pressure or percentile change in mean arterial pressure and plasma ACE activity. Also no correlation was found between high or low ACE activity level and first dose hypotension. The practical importance of the results are: For patients with congestive heart failure. FOS and CAP have different effects on BP after the first dose, and this effect may be dependent on the plasma ACE activity level. FOS produces ACE inhibition and BP changes similar to placebo so it is the safer choice for the treatment of congestive heart failure.     

Effect of hypo- and hyperthyroidism on gastric myoelectrical activity

Although hypo- and hyperthyroid patients have different symptoms in the gastrointestinal tract, the mechanism of thyroid action on the gut remains poorly understood. Thus the aim of this study was to investigate the effect of hypo- and hyperthyroidism on gastric myoelectrical activity, gastric emptying, dyspeptic symptoms. Twenty-two hyperthyroid (median age 45, 15 females) and 11 hypothyroid (median age 42, 10 females) patients were included into the study. Dyspepsia score, hypo- and hyperthyroid symptom scale, abdominal ultrasonography and upper gastrointestinal endoscopy were performed. Gastric myoelectrical activity was measured by electrogastrograpy (EGG) before and after therapy both preprandially and postprandially and compared with age, gender, and body-matched controls (12 for hypothyroid, 15 for hyperthyroid patients). Radionuclide gastric emptying studies were performed with a solid meal. Hypothyroid patients revealed a significant increase in preprandial tachygastria as compared with controls (12.3% vs 4.8%). The percentage of preprandial normal slow waves (2.4–3.7 cpm) was below 70% (dysmotility) in 7 of 11 hypothyroid patients versus 2 of 12 controls (P < 0.05). Hyperthyroid patients revealed a significantly higher preprandial (3.1 vs 2.8) and postprandial (3.4 vs 3) DF when compared with the controls (P < 0.05). A higher percentage of postprandial taschygastria (7.9 vs 0) was present in hyperthyroid patients than in the controls (P < 0.05). The decrease on postprandial EGG power (power ratio < 1) was observed in 7 patients the in hyperthyroid group and 1 in controls (P < 0.05). The percentage of postprandial normal slow waves was below 70% in 10 of 20 hyperthyroid patients vs 1 of 15 controls (P < 0.05). After therapy these differences disappeared in the euthyroid state. The hypo- and hyperthyroid symptom scale correlated to dyspepsia score. Dyspepsia score in hyperthyroidism correlated to power ratios in hyperthyroid patients. We detected some correlations between serum levels of fT3 or fT4 and some EGG parameters in hypo- and hyperthyroidism. Dyspepsia score and hypo- and hyperthyroid symptom scale were improved significantly after therapy in the euthyroid state. In conclusions, we showed gastric dysrhythmia by EGG in both hypo- and hyperthyroid patients. Dyspeptic symptoms correlated to the activity of thyroid disease. After therapy, these findings and dyspeptic symptoms improved in the euthyroid state. Abnormalities of power ratios may be responsible of dyspeptic symptoms in hyperthyroid patients. EGG may be a useful and noninvasive tool for detecting gastric disturbances during hypo- and hyperthyroidism.