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This randomized controlled trial was conducted to evaluate the effects of a 3‐month‐long Chan‐Chuang qigong program on patients' physical performance and quality of life while excluding the influence caused by the progression of their cognitive impairment. Patients with mild to moderate cognitive impairment were recruited from two dementia daycare centers in Taiwan. The control group (n = 41) received the standardized plan of treatment, and the qigong group (n = 39) received the standardized plan of treatment plus the Chan‐Chuang qigong program. The outcomes were muscle strength, muscle endurance, exercise capacity, and quality of life. After controlling for the progression of cognitive impairment, the qigong group showed significant improvements over the control group and baseline in muscle strength and exercise capacity at Months 2 and 3 (p < 0.05) and in muscle endurance at Months 1, 2, and 3 (p < 0.05). The Cognitron test scores were significantly associated with muscle strength (p = 0.03), whereas the Corsi block‐tapping test scores were significantly associated with exercise capacity (p = 0.001). Furthermore, a significant between‐group difference was detected in the physical (p = 0.01), not mental (p = 0.83), component of quality of life. The 3‐month Chan‐Chuang qigong program can be applied for patients with mild to moderate cognitive impairment as complementary therapy to improve their muscle strength, muscle endurance, exercise capacity, and physical quality of life. This program should be practiced for at least 2 months to achieve satisfactory results. [ABSTRACT FROM AUTHOR]

SUMMARY: In seed plants, phospho‐base N‐methyltransferase (PMT) catalyzes a key step in the biosynthesis pathway of phosphatidylcholine (PC), the most abundant phospholipid class. Arabidopsis thaliana possesses three copies of PMT, with PMT1 and PMT3 play a primary role because the pmt1 pmt3 double mutant shows considerably reduced PC content with a pale seedling phenotype. Although the function of PMT1 and PMT3 may be redundant because neither of the parental single mutants showed a similar mutant phenotype, major developmental defects and possible functional divergence of these PMTs underlying the pale pmt1 pmt3 seedling phenotype are unknown. Here, we show the major developmental defect of the pale seedlings in xylem of the hypocotyl with partial impairments in chloroplast development and photosynthetic activity in leaves. Although PMT1 and PMT3 are localized at the endoplasmic reticulum, their tissue‐specific expression pattern was distinct in hypocotyls and roots. Intriguingly, the function of PMT3 but not PMT1 requires its characteristic N‐terminal sequence in addition to the promoter because truncation of the N‐terminal sequence of PMT3 or substitution with PMT1 driven by the PMT3 promoter failed to rescue the pale pmt1 pmt3 seedling phenotype. Thus, PMT3 function requires the N‐terminal sequence in addition to its promoter, whereas the PMT1 function is defined by the promoter. Significance Statement: Although Arabidopsis PMT1 and PMT3 are redundant in seedling growth, their functional divergence is conferred by the N‐terminal sequence in addition to their respective promoter activity. [ABSTRACT FROM AUTHOR]

The use of optical coherence tomography (OCT) technology in anterior segment diseases allows for precise assessment of the changes following anterior segment surgery. Advances in microscope-integrated OCT systems have allowed the utilization of intraoperative OCT (iOCT) in anterior segment surgeries, i.e., cornea, cataract, and refractive surgery. iOCT has enabled real-time precise visualization of anterior segment tissues as well as interactions between surgical instruments and ocular tissue; thus, the device can facilitate surgical procedures and provide valuable information for decision-making during anterior segment surgeries. In this review, the authors will introduce studies regarding the development of iOCT technology and its application in various anterior segment surgeries. Multiple studies have shown the efficacy of the iOCT for intraoperative assistance and guidance, suggesting the potential of the device for optimizing the surgical outcomes after cornea, cataract, and refractive surgery. [ABSTRACT FROM AUTHOR]

A Novel scalable approach using Terahertz (THz) waves together with the electromagnetic field simulation was applied to investigate four rabbits of eight rabbit corneas in vivo. One eye of each rabbits' corneas was edema induced; the other eye of the corneas served as the control. The simulation revealed the propagation of THz waves at a certain distance along the sub‐surface of the cornea. THz spectra have been collected close to the corneal surface by deviating the direct reflection of the THz beam for the edema cornea, the reflected wave intensity for edema corneas is generally larger compared with the control cornea. Upon edema becomes severe at the end of the observation, the reflected wave intensities obtained by detector corresponding to the corneal deep stroma layer approach to the same value for all observed corneas. Good correlation is observed between central corneal thickness measurements and THz wave reflection signal intensities. Our results demonstrated that THz spectroscopy technique could obtain the information from different corneal sublayers. [ABSTRACT FROM AUTHOR]

Aside from the density of lesion pigmentation, another factor affecting the efficacy of the FSL in defining the lamellar plane is lesion thickness. GLO:FQR/01apr21:ceo13907-fig-0002.jpg PHOTO (COLOR): 2 Preoperative and postoperative images of the five patients who underwent femtosecond laser (FSL) resection of pigmented conjunctival lesions. In addition, the Z8's large numerical aperture enables it to cut efficiently through conjunctiva, wherein energy penetrance is decreased compared to corneal tissue due to its translucency.4 Moreover, the Z8 FSL delivers lower energy pulses in the nanojoules range as opposed to microjoules.5 This reduces intraoperative tissue inflammation, which may in turn minimize postoperative scarring. [Extracted from the article]

Advances in imaging technology and computer science have allowed the development of newer assessment of the anterior segment, including Corvis ST, Brillouin microscopy, ultrahigh-resolution optical coherence tomography, and artificial intelligence. They enable accurate and precise assessment of structural and biomechanical alterations associated with anterior segment disorders. This review will focus on these 4 new techniques, and a brief overview of these modalities will be introduced. The authors will also discuss the recent advances in research regarding these techniques and potential application of these techniques in clinical practice. Many studies on these modalities have reported promising results, indicating the potential for more detailed comprehensive understanding of the anterior segment tissues. [ABSTRACT FROM AUTHOR]

Double-headed pterygium, the presence of both nasal and temporal pterygia in the same eye, is uncommon with a reported incidence of 2.5%.1 Various surgical techniques, including split-conjunctival grafts,1 amniotic membrane transplantation (AMT)2 or combination of conjunctival autograft (CAG) with AMT,3 are effective in the management of double-headed pterygia. Two patients with double-headed pterygium visited our clinic and underwent double-headed pterygium excision with FSL-assisted customized-sized CAG preparation (Figure 1A). Compared to a vertically split, large CAG, the equal-dimensional conjunctival defects after double-headed pterygium excision could also be covered by FSL-assisted customized-sized ellipsoid CAG preparation, regardless of their orientation (Figure 2). [Extracted from the article]

Traditional diagnostic tests for dry eye disease (DED), such as fluorescein tear film break-up time and the Schirmer test, are often associated with poor reproducibility and reliability, which make the diagnosis, follow-up, and management of the disease challenging. Advances in ocular imaging technology enables objective and reproducible measurement of changes in the ocular surface, tear film, and optical quality associated with DED. In this review, the authors will discuss the application of various imaging techniques, such as, noninvasive tear break-up time, anterior segment optical coherence tomography, in vivo confocal microscopy, meibography, interferometry, aberrometry, thermometry, and tear film imager in DED. Many studies have shown these devices to correlate with clinical symptoms and signs of DED, suggesting the potential of these imaging modalities as alternative tests for diagnosis and monitoring of the condition. [ABSTRACT FROM AUTHOR]

Femtosecond laser (FSL) is a near-infrared laser that can create reliable and reproducible tissue cutting with minimal damage to adjacent tissue. As the laser can also create incisions with various orientations, depths, and shapes, it is expected to be a useful tool for anterior segment surgery, such as cornea, refractive, and cataract surgery. In this review, the authors will introduce the application of FSL in various anterior segment surgeries and discuss the results of studies regarding the efficacy and safety of FSL in cornea, refractive, and cataract surgery. Experimental studies regarding the potential use of FSL will also be introduced. The studies discussed in this review suggest that FSL may be a useful tool for improving the prognosis and safety of surgeries of the anterior segment. [ABSTRACT FROM AUTHOR]

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephalopathies (DEEs) in a population isolate, with an intensive multistage approach. Infants born in Tasmania between 2011 and 2016, with seizure onset <2 years of age, epileptiform EEG, frequent seizures, and developmental impairment, were included. Following review of EEG databases, medical records, brain MRIs, and other investigations, clinical genetic testing was undertaken with subsequent research interrogation of whole exome sequencing (WES) in unsolved cases. The incidence of infantile DEEs was 0.44/1000 per year (95% confidence interval 0.25 to 0.71), with 16 cases ascertained. The etiology was structural in 5/16 cases. A genetic basis was identified in 6 of the remaining 11 cases (3 gene panel, 3 WES). In two further cases, WES identified novel variants with strong in silico data; however, paternal DNA was not available to support pathogenicity. The etiology was not determined in 3/16 (19%) cases, with a candidate gene identified in one of these. Pursuing clinical imaging and genetic testing followed by WES at an intensive research level can give a high diagnostic yield in the infantile DEEs, providing a solid base for prognostic and genetic counseling. [ABSTRACT FROM AUTHOR]

Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous pathogenic 13 bp duplication in SYNGAP1 (c.435_447dup, p.(L150Vfs*6)) that was identified by whole genome sequencing (WGS). The pathogenic variant had escaped earlier detection via two methodologies: whole exome sequencing and high‐depth targeted sequencing. Both technologies had produced reads carrying the variant, however, they were either not aligned due to the size of the insertion or aligned to multiple major histocompatibility complex (MHC) regions in the hg19 reference genome, making the critical reads unavailable for variant calling. The WGS pipeline followed different protocols, including alignment of reads to the GRCh37 reference genome, which lacks the additional MHC contigs. Our findings highlight the benefit of using orthogonal clinical bioinformatic pipelines and all relevant inheritance patterns to re‐analyze genomic data in undiagnosed patients. A pathogenic, de novo 13bp duplication in SYNGAP1 was identified by whole genome sequencing, but missed using default analysis settings by targeted, and whole exome sequencing. Reads carrying the genetic variant were present in all three sequencing platforms but missed due to two different issues relating to read alignment. Our findings demonstrate the importance of optimising clinical bioinformatic pipelines and highlight the importance of the choice of reference genome and read alignment software versions. [ABSTRACT FROM AUTHOR]

Eukaryotic microalgae have been known for high competency in the accumulation of triacylglycerol (TAG), a representative class of storage lipid. The snow algal species, Chlamydomonas nivalis, is a unique green eukaryotic microalga that can grow and survive in a wide range of temperatures. Although a few metabolomic studies of C. nivalis were conducted, no study has reported on TAG accumulation in C. nivalis. Herein, the present work aimed to investigate TAG production in C. nivalis under nutrient‐starved conditions at 22 °C. Compared to phosphorus starvation, C. nivalis under nitrogen starvation showed a less severe growth defect, greater capacity for TAG production, and simple acyl composition in TAG enriched with 18:1. These features suggest that C. nivalis may be a significant model species to investigate glycerolipid metabolism for basic and applied research. [ABSTRACT FROM AUTHOR]

Importance To describe long‐term outcomes of hemi‐automated lamellar keratoplasty (HALK). Background: HALK is a hybrid anterior lamellar keratoplasty technique for corneas with anterior to mid‐stromal scars and topographical irregularities. Design Prospective interventional case series. Participants: Thirty‐five eyes of 35 consecutive patients undergoing HALK at a single tertiary referral centre from 2007 to 2016. Methods: Patients were followed up for a mean period of 61.4 ± 29.2 months. Main Outcome Measure: Uncorrected visual acuity (UCVA), best spectacle‐corrected visual acuity (BSCVA), spherical equivalent (SE) and cylinder, endothelial cell density (ECD), central corneal thickness (CCT), graft survival and complications were analysed. Results: The most common indications for HALK were scars because of contact lens associated infectious keratitis (29%), unknown origin (26%) or corneal dystrophies (14%). Five patients had a previous keratoplasty (n = 4; deep anterior lamellar keratoplasty, n = 1). Two HALKs failed at 22 and 32 months follow‐up. No graft rejections occurred. UCVA improved from 0.91 ± 0.31 to 0.58 ± 0.35 and BSCVA from 0.66 ± 0.30 to 0.21 ± 0.20 logMAR (P < 0.001) at the last follow‐up. Astigmatism (P = 0.2), SE (P = 0.8) and ECD (P = 0.4) did not change significantly during follow‐up. CCT increased from 490 to 560 μm (P = 0.004). Kaplan–Meier estimated survival for all HALK cases was 90.6 (95% confidence interval 82.6–98.5) months with a survival probability of 96% at 12 months and 92% at 3, 5 and 7 years of follow‐up. Conclusions and Relevance: HALK provides excellent graft survival in primary cases and in patients with prior keratoplasty as well as significant improvement in visual acuity with low complication rates. [ABSTRACT FROM AUTHOR]

Summary: Phosphatidylcholine (PtdCho) is a predominant membrane lipid class in eukaryotes. Phospho‐base N‐methyltransferase (PMT) catalyzes a critical step in PtdCho biosynthesis. However, in Arabidopsis thaliana, the discovery of involvement of the specific PMT isoform in PtdCho biosynthesis remains elusive. Here, we show that PMT1 and PMT3 redundantly play an essential role in phosphocholine (PCho) biosynthesis, a prerequisite for PtdCho production. A pmt1 pmt3 double mutant was devoid of PCho, which affected PtdCho biosynthesis in vivo, showing severe growth defects in post‐embryonic development. PMT1 and PMT3 were both highly expressed in the vasculature. The pmt1 pmt3 mutants had specifically affected leaf vein development and showed pale‐green seedlings that were rescued by exogenous supplementation of PCho. We suggest that PMT1 and PMT3 are the primary enzymes for PCho biosynthesis and are involved in PtdCho biosynthesis and vascular development in Arabidopsis seedlings. Significance Statement: This work addressed two methyltransferases crucial for the biosynthesis of phosphatidylcholine, the most predominant phospholipid class in Arabidopsis. Specific vascular defect in the methyltransferase mutant deficient in phosphatidylcholine biosynthesis suggested an emerging role for phosphatidylcholine biosynthesis in vascular development besides its known function as a constituent of cellular membranes. [ABSTRACT FROM AUTHOR]

Summary: Phospholipases play crucial roles in plant membrane lipid homeostasis. Nonspecific phospholipase C (NPCs) establish a unique class of phospholipases found only in plants and certain bacteria. Here, we show that two previously uncharacterized NPC isoforms, NPC2 and NPC6, are required for male and female gametophyte development in Arabidopsis. Double mutant plants of npc2‐1 npc6‐2 could not be retrieved because npc2‐1 npc6‐2 ovule and pollen development is affected. Genetic complementation, reciprocal crossing and microscope observation of npc2‐1/– npc6‐2/+ and npc2‐1/+ npc6‐2/– plants suggest that NPC2 and NPC6 are redundant and are required for normal gametophyte development. Both NPC2 and NPC6 proteins are localized to the plastids. Promoter‐GUS assays in transgenic Arabidopsis revealed that NPC2 and NPC6 are preferentially expressed in floral organs rather than in leaves. In vitro enzyme assays showed that NPC2 and NPC6 hydrolyze phosphatidylcholine and phosphatidylethanolamine, but not phosphatidate, being consistent with the reported substrate selectivity of NPCs. The amounts of phosphatidylcholine, phosphatidylethanolamine and phosphatidylglycerol were increased in buds but not in flowers of npc2‐1/– npc6‐2/+ and npc2‐1/+ npc6‐2/– plants, presumably due to reduced phospholipid hydrolysis activity in developing flowers. Our results demonstrate that NPC2 and NPC6 play crucial roles in gametogenesis during flower development. [ABSTRACT FROM AUTHOR]

Corneal transplantation has been the only treatment method for corneal blindness, which is the major cause of reversible blindness. However, despite the advancement of surgical techniques for corneal transplantation, demand for the surgery can never be met due to a global shortage of donor cornea. The development of bioengineering and pharmaceutical technology provided us with novel drugs and biomaterials that can be used for innovative treatment methods for corneal diseases. In this review, the authors will discuss the efficacy and safety of pharmacologic therapies, such as Rho-kinase (ROCK) inhibitors, blood-derived products, growth factors, and regenerating agent on corneal cell regeneration. The promising results of these agents suggest that these can be viable options for corneal reconstruction and visual rehabilitation. [ABSTRACT FROM AUTHOR]

Aim: Loss-of-function mutations in SLC2A1, encoding glucose transporter-1 (GLUT-1), lead to dysfunction of glucose transport across the blood-brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebrospinal fluid [CSF] glucose <2.2mmol/L) do not have mutations. We hypothesized that GLUT1 deficiency could be due to non-coding SLC2A1 variants.Method: We performed whole exome sequencing of one proband with a GLUT1 phenotype and hypoglycorrhachia negative for SLC2A1 sequencing and copy number variants. We studied a further 55 patients with different epilepsies and low CSF glucose who did not have exonic mutations or copy number variants. We sequenced non-coding promoter and intronic regions. We performed mRNA studies for the recurrent intronic variant.Results: The proband had a de novo splice site mutation five base pairs from the intron-exon boundary. Three of 55 patients had deep intronic SLC2A1 variants, including a recurrent variant in two. The recurrent variant produced less SLC2A1 mRNA transcript.Interpretation: Fasting CSF glucose levels show an age-dependent correlation, which makes the definition of hypoglycorrhachia challenging. Low CSF glucose levels may be associated with pathogenic SLC2A1 mutations including deep intronic SLC2A1 variants. Extending genetic screening to non-coding regions will enable diagnosis of more patients with GLUT1 deficiency, allowing implementation of the ketogenic diet to improve outcomes. [ABSTRACT FROM AUTHOR]

In plants, ethanolamine is considered a precursor for the synthesis of choline, which is an essential dietary nutrient for animals. An enzyme serine decarboxylase ( SDC) has been identified and characterized in Arabidopsis, which directly converts serine to ethanolamine, a precursor to phosphorylethanolamine and its subsequent metabolites in plants. However, the importance of SDC and ethanolamine production in plant growth and development remains unclear. Here, we show that SDC is required for ethanolamine biosynthesis in vivo and essential in plant embryogenesis in Arabidopsis. The knockout of SDC1 caused an embryonic lethal defect due to the developmental arrest of the embryos at the heart stage. During embryo development, the expression was observed at the later stages, at which developmental defect occurred in the knockout mutant. Overexpression of SDC1 in planta increased levels of ethanolamine, phosphatidylethanolamine, and phosphatidylcholine both in leaves and siliques. These results suggest that SDC1 plays an essential role in ethanolamine biosynthesis during the embryogenesis in Arabidopsis. [ABSTRACT FROM AUTHOR]

Optical coherence tomography (OCT) is a noncontact technology that produces high-resolution cross-sectional images of ocular tissues. Anterior segment OCT (AS-OCT) enables the precise visualization of anterior segment structure; thus, it can be used in various corneal and ocular surface disorders. In this review, the authors will discuss the application of AS-OCT for diagnosis and management of various corneal and ocular surface disorders. Use of AS-OCT for anterior segment surgery and postoperative management will also be discussed. In addition, application of the device for research using human data and animal models will be introduced. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 48-year-old Chinese lady with a lesion on the nasal conjunctiva of the left eye, presented to the Singapore National Eye Centre. It mentions surgical excision of conjunctival melanosis and conjunctival autografting by femtosecond laser. It adds the case on ocular euphorbia exposure.

Nocturnal leg cramps is a common and troublesome problem in elderly individuals, and their etiology is unknown. Treatment with quinine is a common practice, but the effectiveness of the drug is doubtful and adverse drug effects are common. This randomized, double-blind, placebo-controlled study was conducted to evaluate the safety and efficacy of vitamin B complex capsules (fursulthiamine 50 mg, hydroxocobalamin 250 μg, pyridoxal phosphate 30 mg, and riboflavin 5 mg) in 28 elderly patients with hypertension who had severe nocturnal leg cramps that disturbed their sleep. Self-reported ratings of leg cramp frequency, duration, and intensity were used to evaluate severity of nocturnal leg cramps. Both the patients taking vitamin B capsules (n = 14) and those taking placebo (n = 14) received medications three times daily, and were examined regularly at 2-week intervals for 3 months. After 3 months, 86% of the patients taking vitamin B had prominent remission of leg cramps, whereas those taking placebo had no significant difference from baseline. Treatment with vitamin B complex significantly reduced the frequency, intensity, and duration of nocturnal leg cramps. Because quinine is not without potential for side effects, and vitamin B complex is a relatively safe and effective alternative, clinicians should reconsider the treatment of choice for nocturnal leg cramps. [ABSTRACT FROM PUBLISHER]

The article presents a 16-year survey on mortality from uveal melanoma treated by enucleation in Taiwan. The study shows that at a median of 5.0 months, all patients with metastasis died after detection of dissemination. Moreover, it cites that the survival rate at 3 years after enucleation was 68% and 53% at 5 years.

This study aimed at evaluating the effect of intraoperative corneal pocket irrigation in small incision lenticule extraction (SMILE) and compares it to that in femtosecond laser-assisted in situ keratomileusis (FS-LASIK). Sixteen rabbit eyes underwent a SMILE procedure, with 8 eyes having corneal pocket irrigation, while the other 8 eyes were without irrigation. Another 16 eyes underwent a FS-LASIK procedure for comparison, with 8 eyes having flap irrigation, while the other 8 eyes were without irrigation. The results showed that the changes in the total corneal thickness, anterior and posterior lamellar thickness, measured by the anterior segment optical coherence tomography, were comparable between the SMILE with and without irrigation groups, suggesting that the irrigation did not lead to significant changes in the corneal thickness. However, at postoperative 8 hours, in vivo confocal microscopy showed that the interface reflectivity in the SMILE with irrigation group was significantly higher than that in other three groups. The presence of interface fluid was further confirmed by the identification of fluid pockets with undulated collagen shown on histological section in the post-SMILE with irrigation eyes. Our findings might contribute to the occurrence of post-SMILE delayed immediate visual quality recovery and further clinical study is required. [ABSTRACT FROM AUTHOR]