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The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago

Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, et al.

J Hum Genet, 2020 Jul;65(7):619-625.
PMID: 32246049 DOI: 10.1038/s10038-020-0745-7

The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
Patients' and Caregivers' Attitudes Toward Deprescribing in Singapore

Kua CH, Reeve E, Tan DSY, Koh T, Soong JL, Sim MJL, et al.

J Gerontol A Biol Sci Med Sci, 2021 05 22;76(6):1053-1060.
PMID: 31965159 DOI: 10.1093/gerona/glaa018

BACKGROUND: Knowledge of decision-making preference of patients and caregivers is needed to facilitate deprescribing. This study aimed to assess the perspectives of caregivers and older adults towards deprescribing in an Asian population. Secondary objectives were to identify and compare characteristics associated with these attitudes and beliefs.
METHOD: A cross-sectional survey of two groups of participants was conducted using the Revised Patients' Attitudes Towards Deprescribing questionnaire. Descriptive results were reported for participants' characteristics and questionnaire responses from four factors (belief in medication inappropriateness, medication burden, concerns about stopping, and involvement) and two global questions. Correlation between participant characteristics and their responses was analyzed.
RESULTS: A total of 1,057 (615 older adults; 442 caregivers) participants were recruited from 10 institutions in Singapore. In which 511 (83.0%) older adults and 385 (87.1%) caregivers reported that they would be willing to stop one or more of their medications if their doctor said it was possible, especially among older adults recruited from acute-care hospitals (85.3%) compared with older adults in community pharmacies (73.6%). Individuals who take more than five medications and those with higher education were correlated with greater agreement in inappropriateness and involvement, respectively.
CONCLUSIONS: Clinicians should consider discussing deprescribing with older adults and caregivers in their regular clinical practice, especially when polypharmacy is present. Further research is needed into how to engage older adults and caregivers in shared decision making based on their attitudes toward deprescribing.
Simultaneous Orthognathic Surgery With Asian Double Eyelid Suture Blepharoplasty

Khoo LS, Hsiao YC, Huang JJ, Chang FC, Wang YC, Liao YF, et al.

J Craniofac Surg, 2021 5 4;32(8):2592-2596.
PMID: 33935145 DOI: 10.1097/SCS.0000000000007704

BACKGROUND: The main objective of contemporary orthognathic surgery is to correct dentofacial deformities. Nonetheless, many adjunct procedures to enhance the esthetic outcome in orthognathic surgical cases have been successfully incorporated to improve patient satisfaction. The authors report our preliminary experience of performing simultaneous orthognathic surgery with Asian double eyelid suture method blepharoplasty in the same surgical setting.
METHOD: This case series report includes all 19 consecutive cases presenting to the Chang Gung Craniofacial Center for combined orthognathic surgery with Asian double eyelid suture method blepharoplasty. The double eyelid crease height was measured as the vertical line between the upper eyelid margin (eyelid lash) and the upper eyelid crease, observed at the mid-pupillary line with the eyes in primary gaze.
RESULTS: There were no complications or relapse reported within this time period. There was significant improvement in the left and right mid-pupillary double eyelid crease height postsurgery. There were no statistically significant differences between the left and right mid-pupillary double eyelid crease heights after surgery indicating good eyelid crease height symmetry bilaterally was obtained.
CONCLUSIONS: Orthognathic surgery combined with suture method blepharoplasty can be safely performed in the same surgical setting without inappropriate rise in costs or operating room time. This case series demonstrates that excellent esthetic results can be obtained in simultaneous bimaxillary orthognathic surgery with suture method Asian blepharoplasty.
Fulltext Impaired coronary metabolic dilation in the metabolic syndrome is linked to mitochondrial dysfunction and mitochondrial DNA damage

Guarini G, Kiyooka T, Ohanyan V, Pung YF, Marzilli M, Chen YR, et al.

Basic Res Cardiol, 2016 May;111(3):29.
PMID: 27040114 DOI: 10.1007/s00395-016-0547-4

Mitochondrial dysfunction in obesity and diabetes can be caused by excessive production of free radicals, which can damage mitochondrial DNA. Because mitochondrial DNA plays a key role in the production of ATP necessary for cardiac work, we hypothesized that mitochondrial dysfunction, induced by mitochondrial DNA damage, uncouples coronary blood flow from cardiac work. Myocardial blood flow (contrast echocardiography) was measured in Zucker lean (ZLN) and obese fatty (ZOF) rats during increased cardiac metabolism (product of heart rate and arterial pressure, i.v. norepinephrine). In ZLN increased metabolism augmented coronary blood flow, but in ZOF metabolic hyperemia was attenuated. Mitochondrial respiration was impaired and ROS production was greater in ZOF than ZLN. These were associated with mitochondrial DNA (mtDNA) damage in ZOF. To determine if coronary metabolic dilation, the hyperemic response induced by heightened cardiac metabolism, is linked to mitochondrial function we introduced recombinant proteins (intravenously or intraperitoneally) in ZLN and ZOF to fragment or repair mtDNA, respectively. Repair of mtDNA damage restored mitochondrial function and metabolic dilation, and reduced ROS production in ZOF; whereas induction of mtDNA damage in ZLN reduced mitochondrial function, increased ROS production, and attenuated metabolic dilation. Adequate metabolic dilation was also associated with the extracellular release of ADP, ATP, and H2O2 by cardiac myocytes; whereas myocytes from rats with impaired dilation released only H2O2. In conclusion, our results suggest that mitochondrial function plays a seminal role in connecting myocardial blood flow to metabolism, and integrity of mtDNA is central to this process.
Fulltext Mitochondrial DNA integrity and function are critical for endothelium-dependent vasodilation in rats with metabolic syndrome

Kiyooka T, Ohanyan V, Yin L, Pung YF, Chen YR, Chen CL, et al.

Basic Res Cardiol, 2022 Jan 17;117(1):3.
PMID: 35039940 DOI: 10.1007/s00395-021-00908-1

Endothelial dysfunction in diabetes is generally attributed to oxidative stress, but this view is challenged by observations showing antioxidants do not eliminate diabetic vasculopathy. As an alternative to oxidative stress-induced dysfunction, we interrogated if impaired mitochondrial function in endothelial cells is central to endothelial dysfunction in the metabolic syndrome. We observed reduced coronary arteriolar vasodilation to the endothelium-dependent dilator, acetylcholine (Ach), in Zucker Obese Fatty rats (ZOF, 34 ± 15% [mean ± standard deviation] 10-3 M) compared to Zucker Lean rats (ZLN, 98 ± 11%). This reduction in dilation occurred concomitantly with mitochondrial DNA (mtDNA) strand lesions and reduced mitochondrial complex activities in the endothelium of ZOF versus ZLN. To demonstrate endothelial dysfunction is linked to impaired mitochondrial function, administration of a cell-permeable, mitochondria-directed endonuclease (mt-tat-EndoIII), to repair oxidatively modified DNA in ZOF, restored mitochondrial function and vasodilation to Ach (94 ± 13%). Conversely, administration of a cell-permeable, mitochondria-directed exonuclease (mt-tat-ExoIII) produced mtDNA strand breaks in ZLN, reduced mitochondrial complex activities and vasodilation to Ach in ZLN (42 ± 16%). To demonstrate that mitochondrial function is central to endothelium-dependent vasodilation, we introduced (via electroporation) liver mitochondria (from ZLN) into the endothelium of a mesenteric vessel from ZOF and restored endothelium-dependent dilation to vasoactive intestinal peptide (VIP at 10-5 M, 4 ± 3% vasodilation before mitochondrial transfer and 48 ± 36% after transfer). Finally, to demonstrate mitochondrial function is key to endothelium-dependent dilation, we administered oligomycin (mitochondrial ATP synthase inhibitor) and observed a reduction in endothelium-dependent dilation. We conclude that mitochondrial function is critical for endothelium-dependent vasodilation.
Fulltext Temperature Dependence of the Band Gap and Exciton Photoreflectance in Layered Gallium Telluride

Sta Maria CC, Wu PH, Pratama Hasibuan D, Sinta Saragih C, Giap H, Nguyen DH, et al.

ACS Appl Mater Interfaces, 2025 Feb 12;17(6):9514-9522.
PMID: 39899891 DOI: 10.1021/acsami.4c17178

Among Group III-A metal monochalcogenides, gallium telluride (GaTe) is one of the less studied materials in terms of applications and optical characterization. For the temperature dependence of the energy transitions in GaTe, photoluminescence (PL) spectroscopy is commonly used, and photomodulated reflectance (PR) is yet to be reported. In this work, layered monoclinic GaTe single crystals were synthesized by the Bridgman technique and used for the investigation of the conduction band (CB) edge and free-exciton (FX) state transitions using PR spectroscopy. Both energy transitions (i.e., absorption and emission) were present at room temperature at 1.656 and 1.647 eV for the CB edge transition (≡Eg) and for the FX state transition, respectively, and show a blueshift at cryogenic temperatures that can be fitted with Varshni's equation. The estimated E(0) is 1.794 eV for Eg and 1.776 eV for the FX transitions at 0 K. The energy of the FX state transition is ∼18 meV lower than that of the band gap (Eg) at 0 K. PL spectroscopy confirms that the PL emission is only the FX state transition that is lower than Eg. The temperature-induced band-gap shifting is related to performing temperature-dependent photodetector experiments using various incident light wavelengths. At 80 K, the responsivity of the single-crystal GaTe photodetector to the energies of wavelengths (735 and 845 nm) smaller than Eg is relatively smaller than that to 630 nm incident light. This indicates that the low-temperature band-gap shift plays a role in applications of GaTe in optoelectronics.