Prognostic significance of right ventricular dysfunction in patients presenting with acute left-sided heart failure.

BACKGROUND: The prognostic value of right ventricular (RV) function in chronic heart failure (HF) has lately been well established. However, research on its role in acute heart failure (AHF) is sparse. RESULTS: This study comprised 195 patients, aged between 18 and 80 years, with acute left-sided heart failure (HF) and a left ventricular ejection fraction (LVEF) < 50%. Patients with LVEF ≥ 50%, mechanical ventilatory or circulatory support, poor echocardiographic windows, prosthetic valves, congenital heart diseases, infective endocarditis, and/or life expectancy < 1 year due to non-cardiac causes were excluded. The study participants' mean age was 57.7 ± 10.9 years, and 74.9% were males. Coronary artery disease was present in 80.5% of patients. The mean LVEF was 31% ± 8.7. RV dysfunction (RVD), defined as tricuspid annular plane systolic excursion (TAPSE) < 17 mm, RV S' < 9.5 cm/s and/or RV fractional area change (FAC) < 35%, was identified in 48.7% of patients. The RV was dilated in 67.7% of the patients. RVD was significantly associated with a longer HF duration, atrial fibrillation, and idiopathic dilated cardiomyopathy. The primary outcome, a 6-month composite of cardiovascular death or hospitalization for worsening HF (HHF), occurred in 42% of the participants. Cardiovascular mortality and HHF occurred in 30.5% and 23.9% of the patients, respectively. The primary endpoint and longer CCU stays were significantly more common in patients with RVD than in those with normal RV function. RV dilatation was significantly associated with the primary outcome, whether alone or in combination with RVD. Multivariate regression analysis showed that only RV global longitudinal strain (GLS) independently predicted poor outcomes. CONCLUSIONS: RVD and RV dilatation strongly predict CV death and HHF in patients with AHF and LVEF < 50%. Multivariate analysis showed that RV GLS was the only predictor of a composite of CV death and HHF.

Edaravone and obeticholic acid protect against cisplatin-induced heart toxicity by suppressing oxidative stress and inflammation and modulating Nrf2, TLR4/p38MAPK, and JAK1/STAT3/NF-κB signals.

Cardiotoxicity is a significant adverse effect of cisplatin (CIS) that necessitates extensive medical care. The current study examines the cardioprotective effects of edaravone (EDV), obeticholic acid (OCA), and their combinations on CIS-induced cardiac damage. Rats were allocated into five groups: the normal control group, the remaining four groups received CIS (7.5 mg/kg, i.p.) as a single dose on the fifth day and were assigned to CIS, OCA (10 mg/kg/day) + CIS, EDV (20 mg/kg/day) + CIS, and the (EDV + OCA) + CIS group. Compared to the CIS-treated group, co-treating rats with EDV, OCA, or their combinations significantly decreased ALP, AST, LDH, CK-MB, and troponin-I serum levels and alleviated histopathological heart abnormalities. Biochemically, EDV, OCA, and EDV plus OCA administration mitigated cardiac oxidative stress as indicated by a marked decrease in heart MDA content with a rise in cardiac antioxidants SOD and GSH associated with upregulating Nrf2, PPARγ, and SIRT1 expression. Besides, it dampened inflammation by decreasing cardiac levels of TNF-α, IL-1ß, and IL-6, mediated by suppressing NF-κB, JAK1/STAT3, and TLR4/p38MAPK signal activation. Notably, rats co-administered with EDV plus OCA showed noticeable protection that exceeded that of EDV and OCA alone. In conclusion, our study provided that EDV, OCA, and their combinations effectively attenuated CIS-induced cardiac intoxication by activating Nrf2, PPARγ, and SIRT1 signals and downregulating NF-κB, JAK1/STAT3, and TLR4/p38MAPK signals.

Cymbopogon citratus and Citral Overcome Doxorubicin Resistance in Cancer Cells via Modulating the Drug's Metabolism, Toxicity, and Multidrug Transporters.

Multidrug resistance (MDR) is the major complex mechanism that causes the failure of chemotherapy, especially with drugs of natural origin such as doxorubicin (DOX). Intracellular drug accumulation and detoxification are also involved in cancer resistance by reducing the susceptibility of cancer cells to death. This research aims to identify the volatile composition of Cymbopogon citratus (lemon grass; LG) essential oil and compare the ability of LG and its major compound, citral, to modulate MDR in resistant cell lines. The composition of LG essential oil was identified using gas chromatography mass spectrometry (GC-MS). In addition, a comparison of the modulatory effects of LG and citral, performed on breast (MCF-7/ADR), hepatic (HepG-2/ADR), and ovarian (SKOV-3/ADR) MDR cell lines, were compared to their parent sensitive cells using the MTT assay, ABC transporter function assays, and RT-PCR. Oxygenated monoterpenes (53.69%), sesquiterpene hydrocarbons (19.19%), and oxygenated sesquiterpenes (13.79%) made up the yield of LG essential oil. α-citral (18.50%), ß-citral (10.15%), geranyl acetate (9.65%), ylangene (5.70), δ-elemene (5.38%), and eugenol (4.77) represent the major constituents of LG oil. LG and citral (20 µg/mL) synergistically increased DOX cytotoxicity and lowered DOX dosage by >3-fold and >1.5-fold, respectively. These combinations showed synergism in the isobologram and CI < 1. DOX accumulation or reversal experiment confirmed that LG and citral modulated the efflux pump function. Both substances significantly increased DOX accumulation in resistant cells compared to untreated cells and verapamil (the positive control). RT-PCR confirmed that LG and citral targeted metabolic molecules in resistant cells and significantly downregulated PXR, CYP3A4, GST, MDR1, MRP1, and PCRP genes. Our results suggest a novel dietary and therapeutic strategy combining LG and citral with DOX to overcome multidrug resistance in cancer cells. However, these results should be confirmed by additional animal experiments before being used in human clinical trials.

Ginkgo biloba leaves extract's cosmeceutical evaluation: a preliminary assessments on human volunteers towards achieving improved skin condition and rejuvenation.

BACKGROUND: Ginkgo biloba (GB) leaves extract is known to possess potent antioxidants and other bioactivities such as improved skin conditions and rejuvenation. OBJECTIVE: This study aimed to develop a cosmeceutical preparation to utilize the strong antioxidant potential of GB leaves as part of the skincare formulation. METHODS: Cream incorporated GB (GBC) was prepared by mixing the obtained extract with stearic acid-sodium hydroxide components in an emulsion format. The obtained GBC was characterized for GB contents, uniformity, pH, compatibility, stability, and skin's human application. RESULTS: A homogeneous, physically, and chemically stable, with pH near the skin pH and shiny cream, was obtained. The prepared cream was easy to rub and pearly in appearance. It was effective and safe during the two-week trial conducted on human volunteers according to clinical trial registry protocols. The cream scavenged free radicals in DPPH assay tests. The cream incorporated GB made the skin more spirited and tauter. Furthermore, the wrinkles were reduced and the skin was renewed vigor. CONCLUSION: The GBC worked at the topical level and provided benefits when applied daily for the trial duration. The formulation also provided visually observable anti-wrinkle effects on the skin, with visible improvements in the skin's shape and texture. The prepared cream can be used to rejuvenate the skin.

Insights from Egyptian ticagrelor study in patients who presented with acute coronary syndrome (ETS in ACS).

BACKGROUND: Dual antiplatelet therapy with aspirin and a thienopyridine is used to prevent thrombotic complications of acute coronary syndrome (ACS) and percutaneous coronary interventions (PCI). Ticagrelor is an oral, reversible inhibitor of the adenosine diphosphate receptor P2Y12 with a faster onset and more potent platelet inhibition than clopidogrel. A study was needed to evaluate the efficacy and safety of generic ticagrelor in Egyptian patients. RESULTS: This multicenter study included 830 patients aged above 40 years and diagnosed with ACS, with or without ST segment elevation during the preceding 6 months. They received generic ticagrelor (Thrombolinta, Global Napi Pharmaceutical Company, Egypt) (180 mg loading dose, 90 mg twice daily thereafter), added to aspirin 75-100 mg daily. The mean age of our study population was 57.5 (8.3) years and 38.3% were females. Hypertension, diabetes mellitus, dyslipidemia and previous coronary revascularization were present in 70.7%, 59.2%, 80.7% and 31% of the patients, respectively, and 42.5% were current smokers. The qualifying event was unstable angina, non-ST segment elevation myocardial infarction and ST segment elevation myocardial infarction in 54%, 21.8% and 24.2% of the patients, respectively. At 6 months, the primary efficacy end point-a composite of cardiovascular death, myocardial infarction and stroke-occurred in 3.4% of patients, while the secondary efficacy endpoint-a composite of the primary efficacy endpoints with the addition of hospitalization for unstable angina and urgent revascularization-occurred in 15.3%. Cardiovascular death occurred in 1.2% of the patients, myocardial infarction in 0.8%, stroke in 1.3%, hospitalization for UA in 8.1% and urgent revascularization in 3.9%. TIMI major bleeding occurred in 1.2% of patients, intracranial hemorrhage in 0.2% and TIMI minor bleeding in 13.3%. No significant difference was found between patients who underwent PCI at baseline and those who were treated conservatively regarding the primary (14 patients in each group, P = 0.931) and secondary (62 vs. 65 patients, P = 0.946) efficacy endpoints. CONCLUSIONS: In patients who had an ACS during the 6 months preceding enrollment, treatment with generic ticagrelor led to a low rate of cardiovascular death, myocardial infarction and stroke with a minor increase in the risk of major bleeding.

Efficacy and speed of conversion of recent onset atrial fibrillation using oral propafenone versus parenteral amiodarone: A randomized controlled comparative study.

BACKGROUND: Atrial fibrillation is the most commonly encountered arrhythmia. Several antiarrhythmic agents are effective in restoring and maintaining sinus rhythm. AIM OF THE WORK: To compare the efficacy and rapidity of conversion of recent onset atrial fibrillation using oral propafenone versus intravenous infusion of amiodarone. METHODS: The study included 200 patients with recent onset atrial fibrillation. Patients were equally divided into 2 groups; group A where intravenous infusion amiodarone was given and group B where oral propafenone was administrated. The effectiveness and the time needed for conversion of atrial fibrillation to sinus rhythm were compared in both groups. RESULTS: The success of conversion of atrial fibrillation to sinus rhythm was 83% in group A and 85% in group B, p-value = 0.699. The time elapsed from drug administration till conversion of atrial fibrillation was 9.07 ± 5.04 hours in group A versus 3.9 ± 1.54 hours in group B, p-value = 0.001. In both groups, patients who showed failed conversion had a significantly larger left atrial diameter and a significantly higher high sensitivity C-reactive protein (hsCRP) level. CONCLUSION: Oral propafenone was faster than parenteral amiodarone in the conversion of recent onset atrial fibrillation to sinus rhythm. Patients with failed conversion had a bigger left atrial diameter and a higher hsCRP when compared to patients with successful conversion.

Egyptian practical guidance in hypertriglyceridemia management 2021.

Hypertriglyceridemia (HTG) is a very common, yet underappreciated problem in clinical practice. Elevated triglyceride (TG) levels are independently associated with atherosclerotic cardiovascular disease (ASCVD) risk. Furthermore, severe HTG may lead to acute pancreatitis. Although LDL-guided statin therapy has improved ASCVD outcomes, residual risk remains. Recent trials have demonstrated that management of high TG levels, in patients already on statin therapy, reduces the rate of major vascular events. Few guidelines were issued, providing important recommendations for HTG management strategies. The goal of treatment is to reduce the risk of ASCVD and acute pancreatitis. The management stands on lifestyle modification, detection of secondary causes of HTG and pharmacological therapy, when indicated. In this guidance we review the causes and classification of HTG and summarize the current methods for risk estimation, diagnosis and treatment. The present guidance provides a focused update on the management of HTG, outlined in a simple user-friendly format, with an emphasis on the latest available data.

Correlation of echocardiographic parameters in prone and supine positions in normal adults using a novel approach.

BACKGROUND: Transthoracic echocardiography (TTE) in prone position is challenging. Innovative use of transesophageal echocardiography (TEE) probe to perform TTE for such patients has been described; but reproducibility and correlation of the TTE measurements by this technique with those obtained by the standard supine TTE study are still unknown. METHODS: We enrolled 30 non-COVID-19 individuals, with a mean (SD) age 35 (10.9) years and 11 females, to study the agreement between the transthoracic measurements of the left ventricular (LV), left atrial (LA), aortic dimensions, and ejection fraction (EF) obtained in prone position using an external TEE probe versus the standard supine position using the conventional TTE probe. RESULTS: There were no significant differences between LV end-diastolic and end-systolic diameters, septal wall thickness, posterior wall thickness, and aortic root dimensions in the prone versus the supine positions, while the mean EF (60.3% vs 63.1%, P = .014) and mean LA dimensions (1.8 vs 1.9 cm/m2 , P < .001) were significantly lower in the prone position. The mean time of scans was significantly longer in the prone as compared to the supine position (12.5 vs 4.5 minutes, P < .001). All supine studies had good quality while in the prone position four studies were of poor quality, and one was nondiagnostic. CONCLUSIONS: Assessment of cardiac dimensions and systolic function in the prone position using transthoracic TEE probe was feasible. LV and aortic dimensions agreed well with the standard TTE in supine position; however, LA dimensions and EF were lower in the prone position.

Percutaneous management of reperfusion arrhythmias during primary percutaneous coronary intervention: a case report.

BACKGROUND: Myocardial reperfusion may cause profound electrophysiological alterations and can lead to serious reperfusion arrhythmias (RA). Management of RA and the accompanying electrical storm that may occur remains a problem. To our knowledge, the role of balloon re-inflation of the infarct-related artery (IRA) has never been addressed as a treatment modality for RA presenting as ventricular tachycardia (VT) with pulse or supraventricular tachycardia (SVT). CASE PRESENTATION: Six patients presenting with ST elevation myocardial infarction (STEMI) in the first 12 h, who underwent successful primary percutaneous coronary intervention (PCI), developed RA in the cathlab after restoration of flow in the IRA. The RA was in the form of VT with pulse, except in one patient who had SVT. In four patients, the RA was associated with hemodynamic instability. The mean age of the studied patients was 59.16 ± 7.94 years, and four were males. Coronary artery disease risk factors were prevalent, with four patients being hypertensive, two dyslipidemic, one diabetic, and 2 current smokers. One patient had a history of prior myocardial infarction (MI), and none had a history of congestive heart failure. The coronary angiography showed 100% occlusion of IRA in all patients and 2-3-vessel disease was present in 50%. PCI was successful with restoration of thrombolysis in myocardial infarction (TIMI) 2-3 flow in IRA in all cases. The mean time to revascularization from the onset of chest pain was 4.88 ± 2.68 h. In all cases, balloon re-inflation was successful in terminating the arrhythmias. None of the patients needed direct current cardioversion or anti-arrhythmic drugs for management of the acute arrhythmia. CONCLUSION: Balloon re-inflation of IRA was successful in terminating RA that develop in the form of VT with pulse or SVT.

Egyptian practical guidance in lipid management 2020.

BACKGROUND: Numerous epidemiological investigations and randomized clinical studies have determined that dyslipidemia is a major contributor to atherosclerotic cardiovascular disease (ASCVD). Consequently, the management of serum cholesterol and low-density lipoprotein levels has become a central objective in the effort to prevent cardiovascular events. MAIN BODY: Many guidelines were issued by different organizations and societies to define patient risk and establish important recommendations for management strategies. Newer cholesterol-lowering agents (non-statin drugs) are described, and their use is directed primarily to secondary prevention in patients at very high risk of new ASCVD. CONCLUSION: The present guidance summarizes the current methods for risk estimation and outlines the most recent data on lipid management in a simple user-friendly format, to improve physician awareness and help implement guidelines in the daily practice.

Auditory Brainstem Evoked Response Patterns in the Neonatal Intensive Care Unit.

OBJECTIVE: Delayed maturation of auditory brainstem pathway in neonates admitted to the neonatal intensive care unit (NICU) may lead to misdiagnosis of children with normal peripheral hearing and inappropriate use of amplification devices. The aim of this study is to determine the pattern of auditory brain stem response in neonates admitted to the NICU for proper hearing assessment in this high-risk population. STUDY DESIGN: This prospective study was conducted on 1,469 infants who were admitted to the NICU, of which 1,423 had one or more risk factors for permanent congenital hearing loss and were screened with automated auditory brain stem response (AABR). A total of 60 infants were referred for diagnostic ABR analysis after failure on AABR screening. The control group comprised 60 well-baby nursery neonates with no risk factors for PCHL. RESULTS: Mean values of absolute latencies of waves III and V; interpeak latencies I-III, III-V, and I-V; amplitude of waves I, and V; and I/V amplitude ratio at 90 dBnHL measured for the right and left ears at 1 and 3 months of age show significant difference in NICU neonates compared with controls (p < 0.05). All the diagnostic ABR measurements significantly improved at the age of 3 months (p < 0.001) except wave I absolute latency of both groups (p > 0.05). Significant correlations were found between ABR readings at the age of 1 and 3 months and the gestational age of the NICU neonates (p < 0.05). CONCLUSION: Diagnostic ABR findings in NICU neonates suggested delayed maturation of the auditory brainstem pathway with a great impact of gestational age on this maturation. Auditory maturational changes were observed at 3 months of age of patient and control groups.

Cardiopulmonary resuscitation during the COVID-19 pandemic: a scientific statement on CPR management protocol of Kasr Al-Ainy University Hospital is presented.

BACKGROUND: The COVID-19 pandemic poses a major burden to the healthcare system in Egypt, and in the face of a highly infective disease which can prove fatal, healthcare systems need to change their management protocols to meet these new challenges. MAIN BODY: This scientific statement, developed by the cardiology department at Cairo University, emphasized 6 different aspects that are intended to guide healthcare providers during cardiopulmonary resuscitation (CPR) in the era of the COVID-19 pandemic. It highlighted the importance of dealing with all cardiac arrest victims, during the pandemic, as potential COVID-19 cases, and the use of appropriate personal protective equipment (PPE) by health care providers during the procedure. It also stated that the CPR procedure should be done in a separate room with the door closed and that the number of providers present during the procedure should be limited to only those who are essential for patient resuscitation. It also stressed that family members and accompanying personnel of patients with possible COVID-19 should not be in the vicinity of CPR site. The statement also pointed out that CPR procedure should be done in the standard manner with precautions to minimize spread of infection to the staff and accompanying people. Early intubation was prioritized, and the use of rapid sequence intubation with appropriate PPE was recommended. For delivery of CPR for the prone ventilated patient, delivery of chest compressions by pressing the patient's back, while a team prepares to turn the patient supine, was recommended. During intra-hospital transport, it was emphasized that the receiving intensive care unit (ICU) should be notified about the possibility of the patient being COVID-19 positive, so that appropriate infection control precautions are taken. CONCLUSION: Cardiopulmonary resuscitation of cardiac arrest patients in the COVID-19 era poses a significant challenge, and all health care providers should deal with any cardiac arrest victim presenting to the emergency department as potential COVID-19 suspects and should use the appropriate PPE.

Additional diagnostic accuracy of global longitudinal strain at peak dobutamine stress in patients with moderate pretest probability of coronary artery disease.

BACKGROUND: Previous studies confirmed the feasibility of 2D speckle tracking echocardiography (2D STE) during dobutamine stress echocardiography (DSE) in assessing myocardial ischemia in patients with previous myocardial infarction. It is unknown whether it improves the diagnostic accuracy in young patients with intermediate pretest probability for coronary artery disease (CAD) and no prior cardiovascular events. METHODS: We prospectively studied 101 patients by DSE and STE, followed by coronary angiography within 1 month. Significant CAD was defined as diameter stenosis ≥ 50%. Receiver operating characteristic analysis obtained global longitudinal strain (GLS) cutoff values of significant area under the curve (AUC). RESULTS: Mean age: 53 ± 8 years, 56% females, 49 had significant CAD (group 1) and 52 had normal/mild CAD (group 2); no significant baseline differences except more males in group 1 (P: .002). DSE sensitivity and specificity for CAD were 79.6% and 92.3%, respectively, positive predictive value (PPV): 90.6%, negative predictive value (NPV): 82.7%, and diagnostic accuracy: 86%. At peak stress, all strain parameters were significantly lower in group 1. However, GLS had the highest AUC: 0.88, P: <.001. GLS cutoff value ≤ -20.5 had 89.8% sensitivity, 84.6% specificity, 84.6% PPV, 89.8% NPV, and 87% diagnostic accuracy. Combining GLS cutoff with DSE had higher AUC than either alone (0.9, P < .001): 95.9% sensitivity, 84.6% specificity, 85.5% PPV, 95.7% NPV, and 90% diagnostic accuracy. CONCLUSION: 2D-STE-derived GLS increases DSE precision to detect CAD in intermediate pretest probability patients: It improves DSE sensitivity, NPV, and accuracy. It is reproducible and has comparable specificity.

Diosmin enhances the anti-angiogenic activity of sildenafil and pentoxifylline against hepatopulmonary syndrome via regulation of TNF-α/VEGF, IGF-1/PI3K/AKT, and FGF-1/ANG-2 signaling pathways.

Hepatopulmonary syndrome (HPS) is a severe complication of hepatic cirrhosis, which is characterized by hypoxia, intrapulmonary vasodilation, inflammation, and angiogenesis. In this study, we aimed to investigate the regulatory effects of diosmin (DS) on selected phosphodiesterase inhibitors against chronic bile duct ligation (CBDL)-induced HPS. Experimentally, Wistar Albino rats were used and HPS was induced by CBDL for 28 days. DS (100 mg/kg, daily, P.O.), sildenafil (Sild; 10 mg/kg, twice daily, P.O.), and pentoxifylline (PTX; 50 mg/kg, daily, P.O.) were evaluated either alone or in combinations for their anti-angiogenic activity. CBDL significantly altered oxidative stress biomarkers and up-regulated pulmonary mRNA expressions of VEGF, IGF-1, ET-1, iNOS, eNOS, and ANG-2 as well as the protein expressions of vWF, FGF-1, PI3K, AKT, p-AKT, TGF-ß, HYP, MPO activity and circulating TNF-α. Treatment with DS, Sild, PTX, and their combinations significantly attenuated molecular and cellular changes due to CBDL. Improvement of histopathological changes was also observed after drug treatment which further supported our results. Furthermore, DS combination with Sild or PTX exhibited an improvement in HPS in comparison to each drug alone. Collectively, DS can augment the anti-angiogenic activity of Sild and PTX during HPS through regulation of TNF-α/VEGF, IGF-1/PI3K/AKT, and FGF-1/ANG-2 signaling pathways.

Auditory brainstem response in full-term neonates born to mothers with iron deficiency anemia: relation to disease severity.

Background: Iron is crucial for fetal brain development; however, there are insufficient data regarding the effects of maternal iron deficiency anemia (IDA) on auditory neural maturation.Aim: We evaluated the effect of maternal IDA on auditory brainstem response (ABR) in full-term neonates.Methods: Out of 223 pregnant women, 50 were diagnosed as having IDA and 50 healthy mothers were enrolled as controls. ABR test was done for the studied neonates within 48 hours after birth and at 3 months.Results: We found that hemoglobin and iron profile were lower in neonates born to anemic mothers compared with controls. Of 100 neonates screened for ABR, 25 failed the test (all of them were born to anemic mothers). The majority of neonates who failed the screening ABR test (88%) had latent iron deficiency (cord blood ferritin 11-75 µg/L). After 3 months, 85 neonates underwent diagnostic ABR test which revealed significantly prolonged interpeak latencies I-III, III-V, and I-V among neonates born to IDA mothers compared with the control group. Within the IDA group, all interpeak latencies were more prolonged in neonates with latent iron deficiency and in those born to mothers with serum ferritin <15 µg/L. Logistic regression analysis showed that maternal hemoglobin and mean corpuscular volume could predict neonatal ABR results.Conclusions: IDA during late pregnancy adversely affects cord blood iron and hearing status. ABR results are closely related to the severity of maternal and neonatal iron status. Antenatal screening of pregnant mothers is needed to improve fetal iron status and prevent abnormal auditory maturation.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

BACKGROUND: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). METHODS: Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. RESULTS: A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one tool for detecting point mutations and CNVs. CNVs accounted for 10% of identified USH2A alleles, often in trans to seemingly monoallelic point mutations. We demonstrate PTC124-induced read-through of the common p.Trp3955* nonsense mutation (13% of detected USH2A alleles), a potential therapy target. Usher gene mutations were found in most patients with atypical Usher syndrome, but the diagnosis was adjusted in case of double homozygosity for mutations in OTOA and NR2E3, genes implicated in isolated deafness and RP. Two patients with additional enamel dysplasia had biallelic PEX26 mutations, for the first time linking this gene to Heimler syndrome. CONCLUSION: Targeted NGS not restricted to Usher genes proved beneficial in uncovering conditions mimicking Usher syndrome.

Black metal thin films by deposition on dielectric antireflective moth-eye nanostructures.

Although metals are commonly shiny and highly reflective, we here show that thin metal films appear black when deposited on a dielectric with antireflective moth-eye nanostructures. The nanostructures were tapered and close-packed, with heights in the range 300-600 nm, and a lateral, spatial frequency in the range 5-7 µm(-1). A reflectance in the visible spectrum as low as 6%, and an absorbance of 90% was observed for an Al film of 100 nm thickness. Corresponding experiments on a planar film yielded 80% reflectance and 20% absorbance. The observed absorbance enhancement is attributed to a gradient effect causing the metal film to be antireflective, analogous to the mechanism in dielectrics and semiconductors. We find that the investigated nanostructures have too large spatial frequency to facilitate efficient coupling to the otherwise non-radiating surface plasmons. Applications for decoration and displays are discussed.

Plasmonic metasurfaces for coloration of plastic consumer products.

We present reflective plasmonic colors based on the concept of localized surface plasmon resonances (LSPR) for plastic consumer products. In particular, we bridge the widely existing technological gap between clean-room fabricated plasmonic metasurfaces and the practical call for large-area structurally colored plastic surfaces robust to daily life handling. We utilize the hybridization between LSPR modes in aluminum nanodisks and nanoholes to design and fabricate bright angle-insensitive colors that may be tuned across the entire visible spectrum.

Room temperature biological quantum random walk in phycocyanin nanowires.

Quantum nano-structures are likely to become primary elements of future devices. However, there are a number of significant scientific challenges to real world applications of quantum devices. These include de-coherence that erodes operation of a quantum device and control issues. In nature, certain processes have been shown to use quantum mechanical processes for overcoming these barriers. One well-known example is the high energy transmission efficiency of photosynthetic light harvesting complexes. Utilizing such systems for fabricating nano-devices provides a new approach to creating self-assembled nano-energy guides. In this study, we use isolated phycocyanin (PC) proteins that can self-assemble into bundles of nanowires. We show two methods for controlling the organization of the bundles. These nanowires exhibit long range quantum energy transfer through hundreds of proteins. Such results provide new efficient building blocks for coupling to nano-devices, and shed light on distribution and the efficiency of energy transfer mechanisms in biological systems and its quantum nature.

Targeted versus Universal Neonatal Hearing Screening in a Single Egyptian Center.

Aim. To compare targeted neonatal hearing screening (TNHS) and universal neonatal hearing screening (UNHS) since many developing countries, including Egypt, implement selective screening for high-risk neonates. Methods. 150 neonates were assessed; 50 full terms consecutively admitted to the well-baby nursery and 100 neonates consecutively admitted to neonatal intensive care unit (NICU), Ain Shams University. Patients were further subdivided into high-risk group which included 50 neonates with multiple risk factors for hearing loss and low risk group which included 50 neonates with only one risk factor. Transient evoked otoacoustic emissions (TEOAEs) were used for hearing screening. Auditory brain response (ABR) was performed 3 months later for failed TEOAEs. Results. The most frequent risk factor was consanguinity (46%). In the well-baby population, 16% failed TEOAEs. In the NICU, 30% of the low risk and 38% of the high risk groups failed TEOAEs. Regarding ABR, failed results were 12%, 10%, and 8% in the high-risk, low-risk, and healthy groups, respectively. Conclusion. The use of TNHS would have missed 8% of neonates from the well-baby group who actually had PCHL (permanent congenital hearing loss). The use of UNHS would identify all cases with PCHL, allowing for early intervention and follow-up.