Cross-gain modulation-based photonic reservoir computing using low-power-consumption membrane SOA on Si.

We demonstrate photonic reservoir computing (RC) utilizing cross-gain modulation (XGM) in a membrane semiconductor optical amplifier (SOA) on a Si platform. The membrane SOA's features of small active volume and strong optical confinement enable low-power nonlinear operation of the reservoir, with 101-mW-scale power consumption and 102-µW-scale optical input power. The power consumption is about an order of magnitude lower than that of conventional SOAs that exhibit saturable nonlinearity. The XGM-based reservoir is configured by injecting a delayed feedback signal into the SOA from a direction opposite to the input signal. This configuration provides robust operation of the feedback circuit because of the phase insensitivity and the elimination of loop oscillation risk. The RC performance is evaluated via the information processing capacity (IPC) and a nonlinear benchmark task. It is revealed that the XGM-based reservoir performs strong nonlinear transformation of input time-series signals. The series of results consistently show that the membrane SOA performs RC-applicable nonlinear operations through XGM at a low power scale.

Amplifierless PAM-4/PAM-8 transmissions in O-band using a directly modulated laser for optical data-center interconnects.

Toward the realization of low-cost, long-, and extended-reach 400GbE data-center applications, the performance of pulse amplitude modulated (PAM) signals is studied using a state-of-the-art, high-performance 1.3-µm distributed feedback directly modulated laser, without any optical amplification or complex digital processing. Amplifierless PAM-4 transmissions of up to 64-Gb/s are achieved over 40 km of standard single-mode fiber (SSMF) for standard KP4-FEC, while 84-Gb/s PAM-8 signals are evaluated over 10 km SSMF.

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

BACKGROUND: Hereditary cancer predisposition syndromes are responsible for approximately 5-10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory. METHODS: In total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4 years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA). RESULTS: A pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the BRCA1/2 genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR. CONCLUSIONS: In our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition.

Cross-Cultural Adaptation, Reliability, and Validity of the Greek Version of the Upper Extremity Functional Index.

Introduction The Upper Extremity Functional Index (UEFI) is a region-specific questionnaire for patients with upper extremity disorders including patients with rotator cuff-related pain (RCRP). We aimed to translate and cross-culturally adapt the UEFI into Greek (UEFI-Gr) and evaluate its reliability and validity in a Greek-speaking population with RCRP. Methods Published guidelines for translation and cross-cultural adaptation of patient-rated outcome measures were followed. One hundred two patients were asked to complete the Greek versions of the UEFI; Disability of the Arm, Shoulder, and Hand (DASH) questionnaire; and RAND 36-Item Health Survey. Internal consistency, test-retest reliability, measurement error, content validity, concurrent validity, and ceiling and floor effects were evaluated. Results Minor linguistic discrepancies were identified and adopted in the Greek language. The UEFI-Gr presented high internal consistency (Cronbach's alpha: 0.93), excellent test-retest reliability (intraclass correlation coefficient: 0.91; 95% confidence interval {CI}: 0.79-0.95), and acceptable measurement error (standard error of measurement: 4.9 points; minimal detectable change {MDC}: 13.8 points). No ceiling or floor effects were detected. Strong correlations were found with the Greek versions of the Disability of the Arm, Shoulder, and Hand questionnaire (r=0.629; p<0.001) and weak to moderate correlations with most subdomains of RAND 36-Item Health Survey (r=0.30-0.59; p<0.05). Conclusions The UEFI-Gr is a comprehensive, reliable, and valid self-reported instrument to evaluate symptoms in patients with RCRP. Further research on the responsiveness of the questionnaire is necessary.

Band Gap Measurements of Nano-Meter Sized Rutile Thin Films.

Thin Titanium films were fabricated on quartz substrates by radio frequency magnetron sputtering under high vacuum. Subsequent annealing at temperatures of 600 ∘C in air resulted in single-phase TiO2 with the structure of rutile, as X-ray diffraction experiment demonstrates. Atomic-force microscopy images verify the high crystalline quality and allow us to determine the grain size even for ultrathin TiO2 films. Rutile has a direct energy band gap at about 3.0-3.2 eV; however, the transitions between the valence and conduction band are dipole forbidden. Just a few meV above that, there is an indirect band gap. The first intense absorption peak appears at about 4 eV. Tauc plots for the position of the indirect band gap show a "blue shift" with decreasing film thickness. Moreover, we find a similar shift for the position of the first absorbance peak studied by the derivative method. The results indicate the presence of quantum confinement effects. This conclusion is supported by theoretical calculations based on a combination of the effective mass theory and the Hartree Fock approximation.

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

BACKGROUND: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients. OBJECTIVE: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. METHODS: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. RESULTS: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6). CONCLUSIONS: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.

A hypothesis on the role of insulin-like growth factor I in testicular germ cell tumours.

It has already been established that the growth effects of growth hormone (GH) are mediated through insulin-like growth factor I (IGF-I). Recent studies demonstrated a relationship between IGF-I levels and various types of cancer, namely colon, prostate, breast, brain and lung cancer. In addition, many experimental observations documented a participation of the IGF-I system in tumourigenesis through enhanced cell proliferation rate, anti-apoptotic functions and stimulation of neovascularization. With the present known biological mechanisms, implicated in the pathogenesis of testicular germ cell tumours (GCT), it is difficult to interpret the consistently increasing incidence of this tumour over the last decades. On the other hand, unpublished data of our department are in accordance with previous published studies, suggesting that GCT may be positively associated with body height. Scattered publications report development of GCT secondary to acromegaly or long-term GH replacement therapy. Thus, it is possible that the IGF-I system may be implicated in this pathogenesis, thereby predisposing to an increased risk of testicular GCTs. If IGF-I and IGFBP-3 are found to correlate with a high incidence of testicular GCT, they might be useful surrogate markers for diagnosis and surveillance of tumour growth, and an early screening method to identify an increased risk of this type of cancer in the first degree young male relatives of these patients.

Combined chemotherapy and radiotherapy during conception and first two trimesters of gestation in a woman with metastatic breast cancer.

A 33-year-old woman with T(4c)N(3) breast cancer with metastases in the skeleton (M(1)) received five cycles of 5-fluorouracil, epirubicin, and cyclophosphamide (FEC regimen) before conception and during the first trimester. Salvage radiotherapy (28 Gy) was delivered during the 17th week. Tamoxifen and zolendronic acid were also administered throughout the second and third trimesters. The patient was not aware of her pregnancy until the 28th week. A female phenotypically normal infant was delivered in the 35th week of gestation by cesarean section. The child is functioning normally 12 months after delivery. The literature of anthracycline treatment during conception and the first trimester is reviewed. The effects of tamoxifen and biphosphonate therapy on the fetus during pregnancy are also discussed.