Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile. RESULTS: Twenty-seven mutations were identified. The most commonly found variants were c.1330G>C (p.D444H), c.1595C>T (p.T532M), c.470G>A (p.R157H), and c.198_104delGCGGCTGinsTCC (p.C33Ffs ) with allele frequencies of 0.387, 0.175, 0.165 and 0.049, respectively. Three novel pathogenic and likely pathogenic variants were identified: p.W140* (c.419G>A), p.S319F (c.956C>T) and p.L69Hfs*24 (c.192_193insCATC). We also identified three mutations reported in just one patient in the past (p.V442Sfs*59 [c.1324delG], p.H447R [c.1340A>G] and p.198delV [c.592_594delGTC]). Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. Among the screened patients, 156 had partial and 47 had profound BD. CONCLUSIONS: We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD

Ambulatory blood pressure monitoring and renal functions in children with a solitary kidney

The aim of this study is to investigate the blood pressure (BP) profile, microalbuminuria, renal functions, and relations with remaining normal kidney size in children with unilateral functioning solitary kidney (UFSK). Sixty-six children with UFSK were equally divided into three groups: unilateral renal agenesis (URA), unilateral atrophic kidney (UAK), and unilateral nephrectomy (UNP). Twenty-two age-, weight-, and height-matched healthy children were considered as a control group. The serum creatinine level and first-morning urine microalbumin and creatinine concentrations were determined by the standard methods. Also, the BP profile was determined by ambulatory blood pressure monitoring (ABPM). We found that the serum creatinine level was higher and creatinine clearance was lower in each patient groups compared to those of the control group (p < 0.05). Compared with the controls, each group of patients had mean office, 24-h, daytime, and night-time systolic and diastolic BP values similar to those of the controls (p > 0.05). An inverse correlation was found between the renal size standard deviation scores (SDS) of normal kidneys and 24-h systolic and diastolic BP load SDS in all of the patients (p < 0.05; r = −0.372, r = −0.295, respectively). The observed relationship between renal size SDS and 24-h mean arterial pressure (MAP), systolic and diastolic BP load SDS suggests that children with UFSK should be evaluated by using ABPM for the risk of hypertension

Higher Order Splitting Approaches in Analysis of the Burgers Equation

This article proposes some higher order splitting-up techniques based on the cubic B-spline Galerkin finite element method in analyzing the Burgers equation model. The strong form of both conservation and diffusion parts of the time-split Burgers equation have been considered in building the Galerkin approach. To integrate the corresponding ODE system, the Crank-Nicolson time discretization scheme is used. The proposed schemes are shown to be unconditionally stable. Three challenging examples have been considered that have changing values of the kinematic viscosity constant of the medium. Moreover, cases of shock waves of severe gradient are solved and compared with the exact solution and the literature. The qualitative and quantitative results demonstrate that our numerical approach has far higher accuracy than rival methods. © 2019 University of Kuwait. All Rights Reserved

Numerical solution of Burgers' equation with high order splitting methods

WOS: 000362130800034In this work, high order splitting methods have been used for calculating the numerical solutions of Burgers' equation in one space dimension with periodic, Dirichlet, Neumann and Robin boundary conditions. However, splitting methods with real coefficients of order higher than two necessarily have negative coefficients and cannot be used for time-irreversible systems, such as Burgers' equations, due to the time-irreversibility of the Laplacian operator. Therefore, the splitting methods with complex coefficients and extrapolation methods with real and positive coefficients have been employed. If we consider the system as the perturbation of an exactly solvable problem (or one that can be easily approximated numerically), it is possible to employ highly efficient methods to approximate Burgers' equation. The numerical results show that both the methods with complex time steps having one set of coefficients real and positive, say a(i) is an element of R+ and b(i) is an element of C+, and high order extrapolation methods derived from a lower order splitting method produce very accurate solutions of Burgers' equation. (C) 2015 Published by Elsevier B.V

Enamel matrix derivative and low-level laser therapy in the treatment of intra-bony defects: A randomized placebo-controlled clinical trial

PubMedID: 18081859The aim of this study was to evaluate the immediate post-operative pain, wound healing and clinical results after the application of an enamel matrix protein derivative (EMD) alone or combined with a low-level laser therapy (LLLT) for the treatment of deep intra-bony defects. This study was an intra-individual longitudinal test of 12 months' duration conducted using a blinded, split-mouth, placebo-controlled and randomized design. In 22 periodontitis patients, one intra-bony defect was randomly treated with EMD+LLLT, while EMD alone was applied to the contra-lateral defect site. LLLT was used both intra- and post-operatively. Clinical measurements were performed by a blinded periodontist at the time of surgery, in the first week and in the first, second, sixth and 12th month. Visual analogue scale (VAS) scores were recorded for pain assesment. The results have shown that the treatment of intra-bony defects with EMD alone or EMD+LLLT leads to probing depth reduction and attachment-level gain. In addition, EMD+LLLT had resulted in less gingival recession (p<0.05), less swelling (p<0.001) and less VAS scores (p<0.02) compared with EMD alone. This study shows that EMD is an effective, safe and predictable biomaterial for periodontal regeneration and LLLT may improve the effects of EMD by reducing post-operative complications. © 2007 Blackwell Munksgaard

Microsurgical instruments in laterally moved, coronally advanced flap for miller class iii isolated recession defects: A randomized controlled clinical trial

PubMedID: 27977825The aim of this study was to evaluate the laterally moved coronally advanced flap (LMCAF) technique in which magnified vision was used in conjunction with microsurgical instruments (LMCAF-M), and to compare the results with conventional LMCAF technique (LMCAF-C) in Miller Class III isolated recessiontype defects. A total of 50 patients with recessions located at incisors and canines were treated with LMCAF-M or LMCAF-C. Outcome parameters (complete root coverage [CRC] and mean root coverage [MRC]) were assessed 6 months postoperatively. Of the 25 defects in each group, 13 in the LMCAF-M (92.0%) and 17 in the LMCAF-C group (68.0%) exhibited CRC (P < .007). MRC scores were 90.48% for the LMCAF-C group and 97.64% for the LMCAF-M group (P < .04). Patient satisfaction with esthetics and postoperative morbidity were better in the LMCAF-M group (P < .032). This study indicates that performing LMCAF with microsurgical instruments offers definite advantages in terms of CRC and MRC, decreased postoperative morbidity, and increased acceptance by patients. © Quintessenz

Percutaneous Placement of Biliary Metallic Stents in Patients with Malignant Hilar Obstruction: Unilobar versus Bilobar Drainage

PubMedID: 14605106PURPOSE: To evaluate the necessity of draining more than one hepatic duct in malignant hilar obstructions. MATERIALS AND METHODS: Two hundred seventeen self-expandable uncovered metallic stents (144 biliary Wallstents and 73 Memotherm nitinol stents) were placed percutaneously in 138 patients with unresectable malignant hilar obstructions. The patients included 76 men and 62 women, with a median age of 76 years (range, 43-82 years). Single-duct drainage was achieved in 74 patients (54%) by placing one stent (n = 59) or by placing an additional stent inserted telescopically through the first one (n = 15) to achieve an adequate stent length for long strictures (group 1). In 64 patients (46%), to maintain two-duct drainage, two stents were inserted through dual transhepatic tracts in a "Y" configuration (n = 41; group 2Y) or a single transhepatic tract in a "T" configuration (n = 23; group 2T). RESULTS: The overall technical success rate was 100%, and early clinical response was obtained in 89% of patients. The overall rate of major complications was 5.7% and did not show a statistically significant difference among groups 1, 2Y, and 2T in Bismuth type II, III, and IV obstructions. The patency rate was not statistically significant among groups 1, 2Y, and 2T in Bismuth type II and III obstructions (P > .05). However, in Bismuth type IV obstructions, the patency rate was significantly higher in group 2Y (P = .03; Kruskal-Wallis test). CONCLUSION: There is no need to place more than one stent in Bismuth type I, II, and III hilar obstructions. In Bismuth type IV obstructions, deployment of two parallel stents through dual transhepatic tracts should be performed

The levels of serum interleukins in the children with trauma [TRAVMALI COCUKLARDA SERUM INTERLOKIN DUZEYLERI.]

PubMedID: 12415503BACKGROUND: We investigated the levels of IL-I, IL-2, IL-4, IL-6, IL-I0 and IL-12 in serum of the children with trauma and its relation with the severity of trauma. METHODS: We included 45 children with moderate or severe multiple trauma and 21 healthy children for control group to our study. The serum IL-I, IL-2, IL-4, IL-6, IL-IO and IL-12 were measured by micro ELISA. RESULTS: We found a statistically significant difference between the serum values of IL-l, IL-4, 1 L-6, IL-I0 in the children with trauma and healthy control group. A similar difference was also observed between the control group and the trauma group with injury severity score (ISS) 30 and also ISS 32. Serum values of IL-2 and IL-12 did not show significant difference between the groups.W e detected a positive correlation between ISS and IL-l, IL-6, IL-I0 and IL-I2 (respectively r = 0,602, p = 0,000; r = 0,391, p = 0,008; r = 0,399, p = 0,007; r = 0,475, p = 0,001 ). CONCLUSION: These results point out that serum IL-6, IL-I0, IL-12 and especially IL-l has a close relationship with the severity of the tissue damage after trauma. Key words: Child, cytokine, ISS, trauma, the severity of traum

Cyclooxygenase-2 expression in non-Hodgkin's lymphomas

PubMedID: 17325901Cyclooxygenase 2 (Cox-2) is a key enzyme in prostaglandin synthesis and it has an important role in the pathogenesis of various malignancies. Cox-2 has been studied in solid tumors; however, studies about the role of Cox-2 in non-Hodgkin's lymphomas (NHL) are limited. The aim of this study is to determine the importance of Cox-2 expression in lymphomas. To this end, Cox-2 expression was determined in 177 cases with NHL. In histological terms, 60 cases (33%) had low grade and 117 (67%) had aggressive lymphoma. Ninety-nine cases were found to be positive for Cox-2 (56%); Cox-2 score was between 50 and 100, 101 and 200 and over 200 in 38, 46 and 15 cases, respectively. There was an important association between aggressive histology and Cox-2 expression: Cox-2 was negative in about half of the cases with indolent morphology, while two thirds of the Cox-2 positive cases had aggressive histology (p = 0.036). There was no significant association between Cox-2 expression and clinical-laboratory parameters. Although the overall survival times were longer in cases with lower or no Cox-2 expression as compared with higher Cox-2 expression, the difference was not significant. In conclusion Cox-2 expression is seen about 60% of the cases with NHL and is associated with aggressive morphology