A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Ocular conditions and dry eye due to traditional and new forms of smoking: A review

Addiction to cigarette smoking has high prevalence rates recorded worldwide. Smoking has been linked to several life-threatening systemic conditions such as cancer, heart attack and stroke, in addition to a range of ocular pathologies. In recent years, electronic cigarettes (EC) have emerged as alternatives to smoking. ECs are nicotine delivery devices which produce an aerosol by heating, rather than combusting, a liquid which contains nicotine, flavours and preservatives. This review focuses on the association of traditional and new forms of smoking with dry eye disease, contact lens wear and four other common ocular diseases: cataract, age-related macular degeneration, glaucoma and Graves’ ophthalmopathy. It is concluded that smoking and vaping appear as a risk factor for the aforementioned ocular conditions. An evidence-based, clear link between cigarette smoking, or EC vaping and ocular problems is yet to be discovered.     

Changes in accommodative micro-fluctuations after wearing contact lenses of different optical designs

PurposeAccommodative micro-fluctuations (AMF) are small dioptric changes during accommodation. The aim of this study was to evaluate and compare changes in AMF when wearing silicone hydrogel contact lenses of two different optical designs.MethodsA multi-centre, randomised, cross-over, non-dispensing study was conducted on 68 adapted contact lens wearers aged 25–35 years to compare AMF responses to a spherical and aspheric silicone hydrogel (comfilcon A) lens designs. A Righton Speedy “i” series Auto Refractometer in accommodation analyser mode was utilized before and after reading a standard text in font size 8 on an iPhone 5 for 20 min at a 25 cm viewing distance. Phone screen brightness was set by automatic adjustment mode and ambient illumination was controlled at all sites.ResultsMean ± SD AMF change from before to after the reading task was 2.25 ± 5.6 and 0.13 ± 5.7 (relative values) for the spherical and aspheric lens designs, respectively. The difference was statistically significant (P = 0.017, Paired t-test).ConclusionsThe smaller change in AMF when using an aspheric lens design suggests reduced ciliary muscle stress when reading print on a smart phone at a close distance for short periods (20 min). Contact lens wearers who frequently use digital devices and are experiencing eye strain may benefit from switching from a spherical design to one that incorporates aspheric optics.     

Defining Dry Eye from a Clinical Perspective

Over the past decades, the number of patients with dry eye disease (DED) has increased dramatically. The incidence of DED is higher in Asia than in Europe and North America, suggesting the involvement of cultural or racial factors in DED etiology. Although many definitions of DED have been used, discrepancies exist between the various definitions of dry eye disease (DED) used across the globe. This article presents a clinical consensus on the definition of DED, as formulated in four meetings with global DED experts. The proposed new definition is as follows: “Dry eye is a multifactorial disease characterized by a persistently unstable and/or deficient tear film (TF) causing discomfort and/or visual impairment, accompanied by variable degrees of ocular surface epitheliopathy, inflammation and neurosensory abnormalities.” The key criteria for the diagnosis of DED are unstable TF, inflammation, ocular discomfort and visual impairment. This definition also recommends the assessment of ocular surface epitheliopathy and neurosensory abnormalities in each patient with suspected DED. It is easily applicable in clinical practice and should help practitioners diagnose DED consistently. This consensus definition of DED should also help to guide research and clinical trials that, to date, have been hampered by the lack of an established surrogate endpoint.     

Copper–4,4′-dipyridyl coordination compound as solid reagent for spectrophotometric determination of reducing sugar employing a multicommutation approach

In this work a multicommuted flow system employing copper–4,4′- dipyridyl coordination compound as the solid-phase reagent for the spectrophotometric determination of reducing sugar was developed. The coordination compound was synthesized through a reaction of the 4,4′-dipyridyl and copper (II) nitrate, under hydrothermal conditions. The complex was characterized by infrared spectroscopy (FTIR), power X-ray diffraction (XRD), scanning electron microscopy (SEM), energy dispersive spectrometer (EDS) and thermogravimetric analysis (TGA). Based on the characterization, a multicommuted spectrophotometric procedure for the determination of reducing sugar using copper (II) complex as solid reagent is proposed. The proposed method was based on the redox reaction between a monosaccharide, such as fructose and glucose (reducing sugar) and Cu(II). This reaction, mediated in an alkaline medium, produces a yellow compound that can be determined by absorption electronic spectroscopy (λ_ABS = 420 nm). Under optimum experimental conditions, a linear response ranging from 1.0 to 20.0 g L⁻¹ (R = 0.9978 and n = 5), a detection (3σ criterion) and quantification (10σ criterion) limit estimated at 0.23 and 0.75 g L⁻¹, respectively, a standard deviation relative of 4.7% (n = 7), for a reference solution of 10.0 g L⁻¹ reducing sugar, and a sampling rate of 75 determinations per hour were achieved. The proposed system was applied to the determination of reducing sugars in coconut water and juices. The analysis of ten samples and the application of the t-test to the results found, and those obtained using reference procedures (AOAC), provided no significant differences at a 95% confidence level. This system enabled the analysis of reducing sugar with ease and simplicity, providing a significant economy of the solid reagent (600 μg per determination) and reducing effluent generation.     

Selective Coating of SnS on the Bio‐Inspired Moth‐Eye Patterned PEDOT:PSS Polymer Films

A new strategy for the selective coating of tin sulfide (SnS) on the surface of moth‐eye patterned (MEP) conducting polymer film is studied by considering the optical properties of the antireflective moth‐eye pattern and flexibility of polymer films. The semiconductor SnS is selectively coated on the surface of MEP microdomes of poly(3,4‐ethylenedioxythiophene) poly(styrene‐sulfonate) (PEDOT:PSS) film. The SnS coated MEP film is obtained by using pore selectively SnS thin layer functionalized polystyrene honeycomb‐patterned porous (HCP) film as a template. Aqueous PEDOT:PSS solution is poured on the SnS functionalized HCP films and detached for the fabrication of SnS coated MEP films. The films show a satisfactory photo‐responsive property under solar stimulated light illumination due to the antireflective MEP structure of PEDOT film and homogenous SnS coating on the surface of the conducting polymer.     

Design and validation of robotic bionic eye with multiple flexible ropes parallel mechanism inspired by oculomotor law

Producing a stable and agile bionic eye for visual image acquisition in robotics is a challenging task. In this paper, we design a bionic eye with mirror-symmetric distribution and cross-connection of flexible ropes. This mechanism is based on oculomotor law and the physiological structure of the extraocular muscles (EOMs). Specifically, the basic structural parameters are determined by Listing’s law, and the unique connection of the flexible ropes can realize the functions of the recti and oblique muscles. Furthermore, to mimic the trochlea structure, a pulley mechanism is constructed to permit the free movement of the flexible ropes. Through simulation and physical experiments, it is demonstrated that the bionic eye mechanism can move with agility under the structural parameters. The experimental results indicate that the proposed bionic eye mechanism has a superior motion accuracy of 2.798 mm, which is 6.7% of the maximum motion distance, and the repeatable accuracy of the mechanism can up to 0.210 mm.     

Visual Detection of Adenosine Triphosphate by Taylor Rising: A Simple Point-of-Care Testing Method Based on Rolling Circle Amplification

Rapid and sensitive point-of-care testing (POCT) is an extremely critical mission in practical applications, especially for rigorous military medicine, home health care, and in the third world. Here, we report a visual POCT method for adenosine triphosphate (ATP) detection based on Taylor rising in the corner of quadratic geometries between two rod surfaces. We discuss the principle of Taylor rising, demonstrating that it is significantly influenced by contact angle, surface tension, and density of the sample, which are controlled by ATP-dependent rolling circle amplification (RCA). In the presence of ATP, RCA reaction effectively suppresses Taylor-rising behavior, due to the increased contact angle, density, and decreased surface tension. Without addition of ATP, untriggered RCA reaction is favorable for Taylor rising, resulting in a significant height. With this proposed method, visual sensitive detection of ATP without the aid of other instruments is realized with only a 5 μL droplet, which has good selectivity and a low detection limit (17 nM). Importantly, this visual method provides a promising POCT tool for user-friendly molecular diagnostics.