Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges.

The dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly, and lissencephaly (DREAM-PL) syndrome is a rare autosomal recessive disorder characterized by dysmorphic facies, renal agenesis, ambiguous genitalia in males, microcephaly, polydactyly, and lissencephaly. The CTU2 gene, which encodes a protein involved in the post-transcriptional modification of tRNAs is the source of the syndrome's mutation. Several developmental abnormalities can result from a disruption of this modification, which is necessary for the proper translation of genes. The severity of the symptoms of DREAM-PL syndrome can range from moderate to severe, and its clinical characteristics are quite diverse. Some patients might have some of the distinguishing characteristics, whereas others might have all of them. The most typical characteristics include ambiguous genitalia, dysmorphic facies, and microcephaly. DREAM-PL syndrome is diagnosed based on clinical signs and genetic testing which can show mutations in the CTU2 gene. Although there is no known cure for this syndrome, the treatment aims to manage the symptoms. Other lines of treatment like surgical correction of birth defects can sometimes be beneficial to these patients in addition to supportive care. This study is a report of a 37-week-old male neonate, delivered by lower segment cesarean section. The baby's birth weight is 2.760 kg with a heterozygous confirmed pathogenic mutation of the CTU2 gene confirmed by whole-exome sequencing.

Multiplication sampling moire method for full-field deformation measurement of composite materials.

A multiplication sampling moire (MSM) method was proposed for robust deformation distribution measurement by performing phase analysis of the second harmonic (second-order frequency) of a single grating pattern. The MSM method has a very strong noise immunity because the second harmonic spectrum is far from the low-frequency region of the background noise in the frequency domain. Phase analysis of an experimental grid image on a carbon fiber-reinforced plastic (CFRP) specimen indicated that the MSM method effectively solved the problem of non-negligible phase measurement errors of conventional methods that extract the fundamental frequency of the grating, in the case of severe local noise. The displacement and strain distributions of CFRP in a tensile test were successfully measured. This method is suitable for deformation measurement of various composite materials.

Bond strength of demineralized dentin after synthesized collagen/hydroxyapatite nanocomposite application.

Treatment the deeper and remineralizable carious zone (DRCZ) in dentin with various remineralizing methods, either with classic top-down or biomimetic bottom-up remineralization approaches, has remained a constant main issue to enhance dentin substrate bonding quality. The concern of remineralizing the remaining, partially demineralized and physiologically re-mineralizable collagen fibrils was the optimum target. However, applying already mineralized type I collage fibrils which have the ability to chemically cross-link with remaining collagen and minerals did not gain much interest. Synthesis of collagen/hydroxyapatite (Col/Hap) nanocomposite was done with self-assembling Hap in situ onto Col fibrils with different % (70/30, 50/50, 30/70% of Col/Hap, respectively). Micro-tensile bond strength (µTBS) was evaluated after pre-treatment of artificially demineralized dentin with these suggested protocols [nanocomposite together with grape seed extract (GSE; 6.5%) cross-linker for two periods, 10min and 1 h] then applying self-adhesive bonding system. Applied Col/Hap (30/70%) together with GSE (6.5%) gave the significantly highest µTBS (25.04 ± 5.47 and 25.53 ± 7.64 MPa, for 10min and 1 h application times, respectively). After thermocycling for 10,000 cycles at 5 and 55 °C, µTBS for all protocols and both application times substantially decreased especially for the two control groups. Using the suggested dentin pre-treatment protocols, in chair-side, may possibly enhance the bond strength to DRCZ and its durability.

Novel electro self-assembled DNA nanospheres as a drug delivery system for atenolol.

We describe new method for preparing DNA nanospheres for a self-assembled atenolol@DNA (core/shell) drug delivery system. In this paper, we propose the electrochemical transformation of an alkaline polyelectrolyte solution of DNA into DNA nanospheres. We successfully electrosynthesized DNA nanospheres that were stable for at least 2 months at 4 °C. UV-visible spectra of the prepared nanospheres revealed a peak ranging from 372 to 392 nm depending on the DNA concentration and from 361 to 398.3 nm depending on the electrospherization time. This result, confirmed with size distribution curves worked out from transmission electron microscopy (TEM) images, showed that increasing electrospherization time (6, 12 and 24 h) induces an increase in the average size of DNA nanospheres (48, 65.5 and 117 nm, respectively). In addition, the average size of DNA nanospheres becomes larger (37.8, 48 and 76.5 nm) with increasing DNA concentration (0.05, 0.1 and 0.2 wt%, respectively). Also, the affinity of DNA chains for the surrounding solvent molecules changed from favorable to bad with concomitant extreme reduction in the zeta potential from -31 mV to -17 mV. Principally, the attractive and hydrophobic interactions tend to compact the DNA chain into a globule, as confirmed by Fourier transform infrared spectroscopy (FTIR) and TEM. To advance possible applications, we successfully electro self-assembled an atenolol@DNA drug delivery system. Our findings showed that electrospherization as a cost-benefit technique could be effectively employed for sustained drug release. This delivery system achieved a high entrapment efficiency of 68.03 ± 2.7% and a moderate drug-loading efficiency of 3.73%. The FTIR spectra verified the absence of any chemical interaction between the drug and the DNA during the electrospherization process. X-ray diffraction analysis indicated noteworthy lessening in atenolol crystallinity. The present findings could aid the effectiveness of electrospherized DNA for use in various other pharmaceutical and biomedical applications.

Facile coating of urinary catheter with bio-inspired antibacterial coating.

Formation of bacterial biofilm on indwelling urinary catheters usually causes catheter-associated urinary tract infections (CAUTIs) that represent high percent of nosocomial infections worldwide. Therefore, coating urinary catheter with antibacterial and antifouling coating using facile technique is in great demand. In this study, commercial urinary catheter was coated with a layer of the self-polymerized polydopamine which acts as active platform for the in situ formation of silver nanoparticle (AgNPs) on catheter surface. The formed coating was intensively characterized using spectroscopic and microscopic techniques. The coated catheter has the potential to release silver ion in a sustained manner with a concentration of about 2-4 µg ml-1. Disk diffusion test and colony forming unites assay verified the significant bactericidal potential of the AgNPs coated catheter against both gram-positive and gram-negative bacteria as a consequence of silver ion release. In contrast to commercial catheter, the AgNPs coated catheter prevented the adherence of bacterial cells and biofilm formation on their surfaces. Interestingly, scanning electron microscope investigations showed that AgNPs coated catheter possess greater antifouling potential against gram-positive bacteria than against gram-negative bacteria. Overall, the remarkable antibacterial and antifouling potential of the coated catheter supported the use of such facile approach for coating of different medical devices for the prevention of nosocomial infections.

Preparation of silver nanoparticles in the presence of chitosan by electrochemical method.

The present study involves the development of stabilized and densely dispersed chitosan-silver nanoparticles using a green approach based on electrochemical oxidation/complexation process followed by UV irradiation reduction. Formation of the nanoparticles was confirmed by appearance of surface plasmon absorption around 420 nm. The nanoparticles were characterized using transmission electron microscopy, X-ray diffraction, elemental analysis, atomic absorption, energy dispersive X-ray, Fourier transform infrared, and UV-Visible spectrophotometry. The obtained nanoparticles were uniform and spherical with average size of 2-16 nm. It was found that increasing the Ag content in the chitosan-Ag based films tends to decrease their equilibrium swelling values. The nanoparticles also demonstrated a relatively high antibacterial activity against Bacillus thuringiensis and Pseudomonas aeruginosa bacteria as compared to that of chitosan and the antibacterial activity increased with increasing the nanoparticle concentration. The obtained results revealed that the prepared nanoparticles could be tailored and used in various biomedical applications.

Gum chewing stimulates early return of bowel motility after caesarean section.

OBJECTIVE: To evaluate the efficacy and safety of postoperative gum chewing on the recovery of bowel motility after caesarean section. DESIGN: A randomised controlled study. SETTING: Faculty of Medicine, Ain Shams University, Egypt. POPULATION: A total of 200 pregnant women delivered by elective caesarean section (CS) under general anaesthesia. METHODS: Women were randomised into two groups; group A (93 women) who received one stick of sugarless gum for 15 minutes every 2 hours after surgery, and group B (107 women) had traditional management (oral intake of clear fluids allowed after passage of flatus and regular diet with the passage of bowel movement). MAIN OUTCOME MEASURES: Time to first hearing of normal intestinal sounds, time to first flatus, time to first bowel movement and length of hospital stay. RESULTS: The mean duration of surgery was longer in group A (41.3 +/- 7.5 versus 38.4 +/- 8.1 minutes, P < 0.05). The mean postoperative time interval to first hearing of normal intestinal sounds (10.9 +/- 2.7 versus 15.6 +/- 3.7 hours), passage of flatus (17.9 +/- 4.6 versus 24.4 +/- 7.1 hours), defecation (21.1 +/- 4.7 versus 30 +/- 8.2 hours) and discharge from the hospital (40.8 +/- 10.6 versus 50.5 +/- 8.9 hours) were significantly shorter in group A (P < 0.001). Severe ileus occurred only in one woman belonging to group B. All patients in group A tolerated gum chewing beginning on the first postoperative day. CONCLUSION: Gum chewing after CS is safe, well tolerated, and associated with rapid resumption of intestinal motility and shorter hospital stay; with potential impact on reducing the overall healthcare costs in case of routine implementation.

Effect of host medium on the fluorescence emission intensity of rhodamine B in liquid and solid phase.

In this work, we study the effect of concentration, host medium, PH and phase states on the fluorescence emission from the laser dye Rhodamine B pumped by UV laser as exited source. The polymethylmethacrylate PMMA is used as a host medium in case of solid phase samples while, ethanol and Tetrahydrofuran (THF) are used in case of a liquid one. Laser Induced Fluorescence (LIF) technique was used to study the fluorescence properties of both cases of liquid and thin film solid-state samples. In addition, the Dual Thermal Lens (DTL) technique was used to study the quantum yield of these samples. The concentrations of Rhodamine B in ethanol as solvent between 2 x 10(-2) M and 5 x 10(-6) M were studied. The maximum fluorescence emission is observed at concentration of Rhodamine B C = 3 x 10(-4) M. Comparison studies were investigated for different host medium such as ethanol, THF, PMMA in liquid phase state and PMMA in solid phase state. The measurements revealed that, the behavior of both phases state was analogous. Rhodamine B/PMMA thin film sample by ratio of 4:1 and thickness 0.12 mm was found to have the best photostability sample with a quantum yield about approximately 0.82.

Nano-beta-tricalcium phosphates synthesis and biodegradation: 1. Effect of microwave and SO(4)(2-) ions on beta-TCP synthesis and its characterization.

Nano-sized calcium deficient hydroxyapatite (CDHA) powders with an average particle size less than 100 nm were prepared by a co-precipitation method at low temperature. The initial Ca/P molar ratio was chosen to be less than the stoichiometric ratio of beta-TCP (1.5). Additionally, lowering the temperature and pH values accelerated HPO(4)(2-) incorporation in the CDHA structure. HPO(4)(2-) is considered as an essential source for beta-TCP formation. Sulfate ion doping during the maturation period is proved to be an effective step to eliminate the pyrophosphate P(2)O(7)(2-) phase that results during the calcination of CDHA with Ca/P < 1.5. Furthermore, the heating effect of microwave irradiation resulted in an increase in Ca ion concentration and lowered the CDHA deficiency which affected beta-TCP purity despite its ability to reduce the particle size. A purity of 99.32% beta-TCP with respect to the P(2)O(7)(2-) phase was achieved by increasing the sulfate ion concentration from 2% to 3% and the calcination temperatures from 900 degrees C to 1100 degrees C.

Insulin-like growth factor binding protein-3: a novel biomarker for the assessment of the synthetic capacity of hepatocytes in liver cirrhosis.

The liver is the major source of circulating insulin-like growth factor binding protein-3 (IGFBP-3). Because the hepatic tissue is deranged in cirrhotic patients, we measured serum IGFBP-3 concentrations by two-site immunoradiometric assay in sera from 37 cirrhotic patients with different stages of hepatic dysfunction. These were compared with IGFBP-3 levels from 11 healthy controls. Serum IGFBP-3 levels in patients with chronic liver disease were significantly lower than those of the control group (P < 0.0005). The mean percent decrease in cases of early liver cirrhosis, cirrhosis without, and cirrhosis with ascites were 44%, 59%, and 82% respectively, indicating that serum IGFBP-3 levels decrease as the severity of hepatic dysfunction increases. Moreover, the decrease was more pronounced in cases with hyperbilirubinemia, elevated serum transaminases, hypoalbuminemia, and prolonged prothrombin time. There was a significant positive correlation between serum IGFBP-3 and serum albumin, as well as a significant negative correlation between serum IGFBP-3 and prothrombin time. These results indicate the close correlation of IGFBP-3 levels to worsening of hepatic functions. The determination of serum IGFBP-3 level is a clinically useful marker for the assessment of the synthetic capacity of hepatocytes in cirrhotic patients and an early predictor of impending hepatic dysfunction as well.

Sensitivity to the parvovirus minute virus of mice as a probe for azatyrosine-mediated phenotypic reversion of spontaneously transformed cells.

It has been shown that cells transformed by known oncogenes could be reverted to an untransformed phenotype by the antibiotic Azatyrosine (AzTyr). In order to evaluate the reverting effect of AzTyr on five spontaneously transformed FR3T3C cell clones, we performed three assays: soft agar clonability, tumorigenicity in nude mice and susceptibility to killing by the parvovirus minute virus of mice (MVMp). In contrast to untransformed cells, transformed or tumorigenic cells are permissive for the lytic replication of MVMp and are killed. Our results demonstrate that although the cell populations that emerged after AzTyr treatment of FR3T3C clones had different phenotypes (two were untransformed and two had an altered transformed phenotype), they all behaved like untransformed cells, as judged from their resistance to MVMp infection. Our results demonstrate that susceptibility to MVMp is a valuable way to monitor the reversion.

Renal Transplantation in the Gulf Co-operation Council Countries.

The Gulf Co-operation Council (GCC) which has six member-countries was established in 1981 to promote mutual co-operation on various aspects including health care. Efforts are ongoing to have active co-ordination among the member-countries in the field of organ transplantation. Islamic scholars in these countries have approved organ donation from living related and cadaveric donors after obtaining consent from the families concerned. This has paved the way for the implementation of successful renal transplantation programs in many of the GCC countries. The results of the operations performed locally in these countries are encouraging and similar. However, the demand for organs is still high and only 30% of the need is being met at present. Commercial organ donation is strictly prohibited in all these countries. In Saudi Arabia, the Saudi Center for Organ Transplantation (SCOT), erstwhile National Kidney Foundation, was established in 1985. The main objective was to coordinate organ transplantation program in the Kingdom and in the last ten years, the center has gathered remarkable experience in this field. Other GCC countries need to establish cadaveric renal transplantation programs in their countries on similar lines as SCOT.

A clinico-pathological study of Neogynon as a new oral contraceptive steroid.

PIP: Clinical experience, and a pathology study, of 184 women on Neogynon (.25 mg d-norgestrel and .05 mg of 17-ethinyl estradiol, micro 20) was assessed for a total of 3129 cycles. 53 women were nursing babies before use of the pill, and 44 continued to do so throughout pill usage. Endometrial biopsies were taken premenstrually, during the period of full hormonal effect, for 40 cases before and then 6-12 months after initiation of pill usage; biopsies were studied for effect of the combined steroid on the building up of endometrium. The combination pill was 100% effective, with no failures. 23 cases (12.5%) failed to continue through the 18th cycle. 4 cases stopped after the 2nd cycle and 6 more after the 4th; the remaining stopped after the 12th cycle. No change in menstrual pattern was noticed in 136 (73.9%) of the cases; 14 presented with menorrhagia and endometrial biopsy of one of these showed regressive and mixed endometrial changes. 2 cases of intermenstrual spotting were reported. Hypomenorrhea was reported in 16 cases. Side effects were generally effects on the central nervous system: 7 cases of headache and dizziness, 7 cases of mild depression, and 3 cases of sexual anorexia. No gastrointestinal side effects were reported. 44 cases (of 53) continued lactation, and 9 noticed a progressive decrease in the amount of milk produced. 8 cases gained weight and 13 lost, 2 enough to quit using the pills. Hair loss was a noticeable complaint in 5 cases. Endometrial biopsies revealed grades of arrest of endometrial development. 85% showed a resting endometrial pattern, whereas 15% were atrophic. Endometrial response was rather irregular and mainly of the mixed type in 90% of the cases and about 10% were proliferative.^ieng