Cysteamine Isobionic-Amide Complex Versus Kligman's Formula for the Treatment of Melasma: Equal Efficacy and Rapid Onset of Action.

BACKGROUND: Modified Kligman's formula (mKF) is the gold standard treatment for melasma; however, its prolonged use is not recommended due to side effects. Cysteamine is a potent, safe, and effective depigmenting agent. Here, we conducted a double-blind, randomized, and placebo-controlled clinical trial to assess the efficacy of cysteamine isobionic-amide -- a complex with enhanced depigmenting efficacy -- and compared it to mKF for the treatment of melasma. METHODS: This study involved a total of 80 patients divided into 3 groups: cysteamine-isobionic amide, placebo, or mKF. The modified Melasma Area Severity Index (mMASI) score and spectrophotometric evaluation were conducted at baseline, week 4, week 8, and week 16. Dermatological assessment, patients’ feedback, and satisfaction including quality-of-life scores were also collected. RESULTS: At week 4, cysteamine isobionic-amide and mKF groups showed an equivalent onset of action in terms of mMASI and skin pigmentation contrast reduction. The 2 groups significantly reduced melasma severity and improved the overall skin condition with a comparable efficacy at week 16. Quality of life of melasma patients was significantly improved in the cysteamine isobionic-amide group at week 8 and further at week 16 (P<0.001) compared to the mKF group. Patients’ feedback and satisfaction were higher with the cysteamine isobionic-amide product compared to mKF. CONCLUSION: Cysteamine isobionic-amide provided a rapid onset of action and was as effective as the mKF for the treatment of melasma. The data suggest that cysteamine isobionic-amide could potentially be an acceptable alternative to mKF for the long-term treatment of melasma. J Drugs Dermatol. 2024;23(2):9-16.  doi:10.36849/JDD.7428.

Efficacy and Safety of Solid-state Dual-wavelength Lasers for the Treatment of Moderate-to-severe Inflammatory Acne in Asian Populations.

Background: Standard treatments for moderate-to-severe acne often require oral medications but are not long-lasting or free from side effects. We aimed to evaluate the efficacy and safety of a solid-state dual-wavelength laser for moderate-to-severe inflammatory acne in an Asian population. Methods: Forty individuals with moderate-to-severe acne received nightly topical retinoids and two to three weekly treatments with a 1319-nm laser followed by a 589-nm laser (five sessions in total). Patients were evaluated at pretreatment baseline, at monthly intervals, and at 1 month after the last laser for pain, seborrhea, global aesthetic improvements, and satisfaction, using standardized digital photography and global assessment scales. Fifteen patients had an additional evaluation 3 months after the fifth session. Results: At 1 month, all patients (n = 40) had improved inflammatory acne counts, with 72.5% having greater than 75% reduction in acne count, 7.5% having 51%-75% reduction, 17.5% having 26%-50% reduction and 2.5% having less than 25% reduction. Moreover, GAS evaluations showed that 62.5% of patients improved to almost clear and 37.5% to mild acne (P = 0.0478), while improvements were sustained in patients with 3-month follow-ups. Erythema (n = 29) improved with 65.5% of affected patients having greater than 75% reduction. Patients (n = 17) with pigmentation experienced lightening, with 52.9% of affected patients having a greater than 75% reduction. With low pain scores (mean 3.68 of 10, median 4 of 10), the treatment was well-tolerated. All patients (n = 40) reported acne improvements with 95% having much improved or very much improved, and 95% either satisfied or very satisfied. Conclusions: Dual-wavelength lasers effectively and safely treat moderate-to-severe inflammatory acne with high patient satisfaction. It is ideal for patients who refuse or are contraindicated to oral medications, and patients with acne-associated pigmentation, erythema and seborrhea.

Jaw claudication and jaw stiffness in giant cell arteritis: secondary analysis of a qualitative research dataset.

Objective: Jaw symptoms can be a vital clue to the diagnosis of GCA. Guidelines recommend more intensive treatment if jaw claudication is present. We sought to explore how patients with GCA described their jaw symptoms. Methods: We carried out a secondary, qualitative analysis of interview data from 36 participants from the UK (n = 25) and Australia (n = 11), originally collected in order to develop a patient-reported outcome measure for GCA. In all cases, GCA had been confirmed by biopsy/imaging. Interview transcripts were organized within QSR NVivo 12 software and analysed using template analysis. Themes were refined through discussion among the research team, including a patient partner. Results: Twenty of 36 participants reported jaw symptoms associated with GCA. The median age of these 20 participants was 76.5 years; 60% were female. Five themes were identified: physical sensations; impact on function; impact on diet; symptom response with CSs; and attribution to other causes. Physical sensations included ache, cramp, stiffness and 'lockjaw'. Functional impacts included difficulty in eating/chewing, cleaning teeth, speaking or opening the mouth. Dietary impacts included switching to softer food. Response to CSs was not always immediate. Jaw symptoms were initially mis-attributed by some participants to arthritis, age or viral illnesses; or by health-care professionals to a dental cavity, ear infection or teeth-grinding. Conclusion: Jaw symptoms in GCA are diverse and can lead to diagnostic confusion with primary temporomandibular joint disorder, potentially contributing to delay in GCA diagnosis. Further research is needed to determine the relationship of jaw stiffness to jaw claudication.

Unchanged cellular inflammatory response following recurrent ST-elevation myocardial infarction.

BACKGROUND: Recurrent ST-elevation myocardial infarctions (STEMIs) are associated with poorer prognosis. A diminished haematopoietic response has been proposed as the mechanism responsible for this, but has yet to be validated in human studies. We therefore aim to map out the leukocyte response, and its subtypes, following the first and second STEMI to identify if the inflammatory response is dampened after recurrent myocardial infarctions. METHODS: Retrospective cohort study of patients presenting with recurrent STEMI undergoing percutaneous coronary intervention. Full blood counts were taken within 24 h of each admission, and daily thereafter. The primary outcome was whether there were any qualitative or quantitative difference in leukocyte cell response (and its subtypes) between first and second STEMI. RESULTS: Thirty-one patients (mean age 59 years [SD 14.9], 26 males [83.9%]) with an average of 3.1 years between infarcts were included in the study. Overall, between first and second STEMI, similar mean leukocyte response (and its subtypes) was observed from admission to day three post PCI. Similarly, the peak leukocyte response (and its subtypes) was similar between the two STEMIs, even after adjusting for infarct size. CONCLUSIONS: In recurrent STEMIs, there is no long-term memory effect on the cellular inflammatory response leading to diminished peripherally circulating leucocytes, and its subtypes.

Relapse after cessation of weekly tocilizumab for giant cell arteritis: a multicentre service evaluation in England.

OBJECTIVES: The National Health Service in England funds 12 months of weekly subcutaneous tocilizumab (qwTCZ) for patients with relapsing or refractory giant cell arteritis (GCA). During the COVID-19 pandemic, some patients were allowed longer treatment. We sought to describe what happened to patients after cessation of qwTCZ. METHODS: Multicentre service evaluation of relapse after stopping qwTCZ for GCA. The log-rank test was used to identify significant differences in time to relapse. RESULTS: 336 GCA patients were analysed from 40 centres, treated with qwTCZ for a median (interquartile range, IQR) of 12 (12-17) months. At time of stopping qwTCZ, median (IQR) prednisolone dose was 2 (0-5) mg/day. By 6, 12 and 24 months after stopping qwTCZ, 21.4%, 35.4% and 48.6% respectively had relapsed, requiring an increase in prednisolone dose to a median (IQR) of 20 (10-40) mg/day. 33.6% of relapsers had a major relapse as defined by EULAR. Time to relapse was shorter in those that had previously also relapsed during qwTCZ treatment (P = 0.0017); in those not in remission at qwTCZ cessation (P = 0.0036); and in those with large vessel involvement on imaging (P = 0.0296). Age ≥65, gender, GCA-related sight loss, qwTCZ treatment duration, TCZ taper, prednisolone dosing, and conventional synthetic DMARD use were not associated with time to relapse. CONCLUSION: Up to half our patients with GCA relapsed after stopping qwTCZ, often requiring a substantial increase in prednisolone dose. One third of relapsers had a major relapse. Extended use of TCZ or repeat treatment for relapse should be considered for these patients.

Optimizing Melasma Management With Topical Tranexamic Acid: An Expert Consensus.

Because of its complex pathogenesis, chronicity, and high rates of recurrence, melasma is regarded as a challenging skin disorder. Topical treatments are often offered as first-line therapy. However, many patients are unaware that melasma is recurrent and requires long-term management. Hydroquinone is effective for controlling relapses and has become the standard of care for melasma in many countries. Nonetheless, it is limited by its side effect profile. Certain patient profiles who have had prior therapy and/or are refractory to treatment may be offered an alternative, that is topical tranexamic acid (TXA) alone or in combination with other modalities. This review provides a summary of current evidence on topical TXA as a treatment for certain case profiles. This paper aims to fill knowledge gaps in terms of currently available options, highlighting the role of topical TXA alone or in combination with other active ingredients (ie, topical TXA 2% with patented delivery technology). J Drugs Dermatol. 2023;22(4): doi:10.36849/JDD.7104 Citation: Desai SR, Chan LC, Handog E, et al. Optimizing melasma management with topical tranexamic acid: An expert consensus. J Drugs Dermatol. 2023;22(4):386-392. doi:10.36849/JDD.7104.

The correlation between different ultrasound planes and computed tomography measures of abdominal aortic aneurysms.

Introduction: Ultrasound measurements of the aorta are typically taken in the axial plane, with the transducer perpendicular to the aorta, and diameter measurements are obtained by placing the callipers from the anterior to the posterior wall and the transverse right to the left side of the aorta. While the 'conventional' anteroposterior walls in both sagittal and transverse plains may be suitable for aneurysms with less complicated geometry, there is controversy regarding the suitability of this approach for complicated, particularly tortuous aneurysms, as they may offer a more challenging situation. Previous work undertaken within our research group found that when training inexperienced users of ultrasound, they demonstrated more optimal calliper placement to the abdominal aorta when approached from a decubitus window to obtain a coronal image compared to the traditional ultrasound approach. Purpose: To observe the level of agreement in real-world reporting between computed tomography (CT) and ultrasound measurements in three standard planes; transverse AP, sagittal AP and coronal (left to right) infra-renal abdominal aortic aneurysm (AAA) diameter. Methodology: This is a retrospective review of the Otago Vascular Diagnostics database for AAA, where ultrasound and CT diameter data, available within 90 days of each other, were compared. In addition to patient demographics, the infrarenal aorta ultrasound diameter measurements in transverse AP and sagittal AP, along with a coronal decubitus image of the aorta was collected. No transverse measurement was performed from the left to the right of the aorta. Results: Three hundred twenty-five participants (238 males, mean age 76.4 ± 7.5) were included. Mean ultrasound outer to the outer wall, transverse AP and sagittal AP diameters were 48.7 ± 10.5 mm and 48.9 ± 9.9 mm, respectively. The coronal diameter measurement of the aorta from left to right was 53.9 ± 12.8 mm in the left decubitus window. The mean ultrasound max was 54.3 ± 12.6 mm. The mean CT diameter measurement was 55.6 ± 12.7 mm. Correlation between the CT max and ultrasound max was r 2 = 0.90, and CT with the coronal measurement r 2 = 0.90, CT and AP transverse was r2=0.80, and CT with AP sagittal measurement was r 2 = 0.77. Conclusion: The decubitus ultrasound window of the abdominal aorta, with measurement of the coronal plane, is highly correlated and in agreement with CT scanning. This window may offer an alternative approach to measuring the infrarenal abdominal aortic aneurysm and should be considered when performing surveillance of all infra-renal AAA.

Safety and efficacy of superficial micro-focused ultrasound with visualization for melasma in Asians: An uncontrolled pilot study.

BACKGROUND: The pathophysiology of melasma is multifactorial, resulting in treatment resistance and a high recurrence rate. Recent research suggests that focused ultrasound might treat melasma effectively. OBJECTIVES: To investigate the efficacy and safety of superficial micro-focused ultrasound with visualization (MFU-V) for melasma in Asians. METHODS: Patients (n = 20) with mixed melasma on both cheeks received 2 MFU-V treatments spaced 1 month apart. At monthly visits over 5 months, treatment efficacy and safety were evaluated. Standardized photographs were clinically assessed using the modified Melasma Area and Severity Index (mMASI), and 6-point grading scales for melasma lightening and area of involvement. Patients provided pain, global aesthetic improvement scale (GAIS), and satisfaction assessments. RESULTS: In 40 cheeks, the mean mMASI score was significantly reduced from 13.2 at baseline to 2.4 at month 4, and 2.8 at month 5. Twenty-nine cheeks (72.5%) showed lightening of melasma at month 4 that persisted until month 5, with improvements up to 75% compared to baseline. Melasma area decreased overall, with sites containing >30% melasma involvement decreasing from 55% to 20% by month 5, and none with 70%-89% involvement. Melasma lightening and area improved visibly in 40% and 20% of cheeks, respectively, as early as 1 month after index MFU-V treatment. Improvements continued after the second treatment and persisted until study closure, correlating with patient GAIS and satisfaction scores. Procedure was well tolerated with only mild-to-moderate pain reported in 92.5% of treatments. CONCLUSION: Superficial MFU-V is a safe and effective treatment for melasma.

Inflammatory cell response following ST-elevation myocardial infarction treated with primary percutaneous coronary intervention and its impact on cardiovascular outcomes: A systematic review and meta-analysis.

BACKGROUND: Inflammatory responses post STEMI may mediate major adverse cardiovascular events (MACE). This is the first systematic review to map leukocyte response following a STEMI and its association with outcomes. METHODS: We systematically searched EMBASE and Medline for studies of STEMIs undergoing primary PCI. Eligible studies reported leukocytes or its subtype plus either 30-day and/or 1-year MACE. Random effects model for pooled proportions was used to estimate 30-day and 1-year mortality and MACE. Meta-regression was used to estimate the effect of leukocyte counts on cardiovascular outcomes. Publication bias was assessed using Egger's regression-based test. The review was registered with PROSPERO (CRD42019124991). RESULTS: Of the 3,813 studies meeting the preliminary search criteria, 24 cohort studies were eligible for inclusion, representing 19,074 persons [76.4% male (n = 14,539); mean age 61.6 years]. Leukocytes had a mean of 10.5x109 (SD 4.7) on admission and 11.1x109 (SD 3.3) at day one post STEMI. Neutrophils increased day one post STEMI, while lymphocytes decreased. There was limited data on other leukocyte subtypes and beyond day one. Estimated 30-day and 1-year all-cause mortality were 6.5% (95% CI 4.8-8.2, p <0.001) and 9.7% (95% CI 5.6-13.8, p <0.001), while the estimated 30-day and 1-year MACE were 14.9% (95% CI 5.3-24.4, p < 0.001) and 15.2% (95% CI 7.2-23.2, p < 0.001). The meta-analysis was limited by a high degree of heterogeneity between studies. CONCLUSIONS: This review highlights the urgent need to better characterise inflammation post STEMI to identify mediators for the persistently high mortality and morbidity associated with STEMI.

An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.

Generalised arterial calcification of infancy (GACI) is an ultra-rare life-threatening genetic disorder. Arterial calcification is identified during foetal ultrasound scan (USS) as increased cardiac and/or vascular echogenicity. Inorganic pyrophosphate (PPi) is the main inhibitor of arterial calcification. Pathogenic variants in ENPP1, ABCC6 and NT5E causing low PPi lead to ectopic calcifications. Rheumatoid arthritis (RA) is an acquired condition that can also lead to arterial calcification in adults. We present an extremely rare case of a transient GACI-like condition identified during foetal echocardiogram of an infant born to a mother diagnosed with RA, which spontaneously resolved postnatally. This case highlights that foetal ultrasound scans of pregnant women with RA should be carefully evaluated for cardiovascular calcifications.

Paracrine Factors Released by Stem Cells of Mesenchymal Origin and their Effects in Cardiovascular Disease: A Systematic Review of Pre-clinical Studies.

Mesenchymal stem cell (MSC) therapy has gained significant traction in the context of cardiovascular repair, and have been proposed to exert their regenerative effects via the secretion of paracrine factors. In this systematic review, we examined the literature and consolidated available evidence for the "paracrine hypothesis". Two Ovid SP databases were searched using a strategy encompassing paracrine mediated MSC therapy in the context of ischemic heart disease. This yielded 86 articles which met the selection criteria for inclusion in this study. We found that the MSCs utilized in these articles were primarily derived from bone marrow, cardiac tissue, and adipose tissue. We identified 234 individual protective factors across these studies, including VEGF, HGF, and FGF2; which are proposed to exert their effects in a paracrine manner. The data collated in this systematic review identifies secreted paracrine factors that could decrease apoptosis, and increase angiogenesis, cell proliferation, and cell viability. These included studies have also demonstrated that the administration of MSCs and indirectly, their secreted factors can reduce infarct size, and improve left ventricular ejection fraction, contractility, compliance, and vessel density. Furthering our understanding of the way these factors mediate repair could lead to the identification of therapeutic targets for cardiac regeneration.

Insights on Skin Quality and Clinical Practice Trends in Asia Pacific and a Practical Guide to Good Skin Quality from the Inside Out.

Objective: We sought to examine the current skin quality trends and gaps in clinical practice in the Asia Pacific region and develop a practical guide to improve skin quality. Methods: Medical practitioners from 11 countries in the Asia Pacific region completed an online survey on current trends in skin quality treatment. A panel of 12 leading experts convened for a virtual meeting to develop a practical guide for skin quality improvement. Results: A total of 153 practitioners completed the survey. The four most common skin quality issues were uneven skin tone, skin surface unevenness, skin laxity, and sebaceous gland hyperactivity and enlarged pores. Most practitioners reported using a combination of treatment modalities for each skin quality issue. It was also observed that each treatment modality could be used to treat several skin quality issues. A multimodal approach targeting different interrelated issues across the tissue planes was recommended for balanced results. The panel developed a practical guide for the appropriate combinations and sequence of treatments, and created treatment protocols for specific skin quality outcome goals. The guide employed an "inside-out" approach, treating the deeper tissue planes prior to the superficial layers to achieve harmonious results. Limitations: Future studies are needed to support the recommended treatment protocols for skin quality improvement. Conclusion: These findings provide valuable insights on current skin quality trends and gaps in clinical practice. The practical guide provides a framework for practitioners to customize their treatment plan according to each patient's needs.

Long term outcomes in CDH: Cardiopulmonary outcomes and health related quality of life.

BACKGROUND: With improvements in clinical management and an increase in CDH survivorship there is a crucial need for better understanding of long-term health outcomes in CDH. AIM: To investigate the prevalence of cardiopulmonary health morbidity and health related quality of life (HRQoL) in CDH survivors. METHODS: We included all studies (n = 65) investigating long-term cardiopulmonary outcomes in CDH patients more than 2 years published in the last 30 years. The Newcastle-Ottawa Scale and the CASP checklist for cohort studies were utilized to assess study quality. Results were reported descriptively and collated by age group where possible. RESULTS: The incidence of pulmonary hypertension was highly variable (4.5-38%), though rates (%) appeared to diminish after 5 years of age. Lung function indices and radiological outcomes were frequently abnormal, and Health Related Quality of Life (HRQoL) reduced also. Long term diseases notably emphysema and COPD are not yet fully described in the contemporary literature. CONCLUSION: This study underscores cardiopulmonary health morbidity and a reduced HRQoL among CDH survivors. Where not already available dedicated multidisciplinary follow-up clinics should be established to support these vulnerable patients transition safely into adulthood. Future research is therefore needed to investigate the risk factors for cardiopulmonary ill health and morbidity in CDH survivors. TYPE OF STUDY: Systematic review of case control and cohort studies.

Customized Treatment Using Microfocused Ultrasound with Visualization for Optimized Patient Outcomes: A Review of Skin-tightening Energy Technologies and a Pan-Asian Adaptation of the Expert Panel's Gold Standard Consensus.

BACKGROUND: Noninvasive facial-rejuvenation devices, such as nonablative radiofrequency (RF) and laser-assisted technology, are increasingly replacing higher-risk surgeries for face and body skin laxity. OBJECTIVE: We sought to review published information on noninvasive energy device safety and efficacy in aesthetic skin tightening, compare these with our experiences in Asian patients, and disseminate a consensus for optimizing microfocused ultrasound with visualization (MFU-V) in Asian patients. METHODS: A broad, nonexhaustive, nonsystematic literature search of published studies indexed in PubMed was performed to compare selected energy technologies to MFU-V for noninvasive face and body skin tightening, in particular, among Asian patients. This was supplemented with internal documents to provide evidence and support arguments if no peer-reviewed data were available. RESULTS: We highlighted the differences between devices and platforms and identified factors requiring attention and caution. Due to the increase in new devices lacking strong supporting clinical evidence of both safety and efficacy in Asia, it is necessary to convene physicians with substantial experience in MFU-V and devise a consensus on Asian patient selection, treatment planning, and customization. CONCLUSION: Many platforms duplicate or claim similar technologies, efficacy, or safety without significant peer-reviewed scientific or clinical evidence. We showed that MFU-V satisfies this clinical imperative. Further, the patented DeepSEE® technology allows users to noninvasively "see" through the skin to ensure treatment precision, facilitate optimal skin lifting and tightening, and enhance patient comfort and safety. Therefore, we believe that MFU-V is the gold standard for nonsurgical lifting and skin tightening.

Treating Striae Distensae Albae in Asians: Efficacy and Safety of Combined MFU-V and CaHA.

This study evaluated the efficacy and safety of a single treatment combining microfocused ultrasound with visualization (MFU-V) and subdermal diluted calcium hydroxylapatite with lidocaine (CaHA+) for Striae Distensae Albae (SDA). METHODS: Ten prospectively enrolled women with abdominal, back or thigh SDA were treated with MFU-V at 3 focal depths (4.5, 3.0, and 1.5 mm), followed by 3-6 mL of diluted CaHA+ (1:1 ratio) in the same session. Outcomes were assessed at 1 month, 3 months, and 5 months postprocedure using a 5-point quartile grading scale, an SDA scoring scale, a 10-point visual analog score, and a global aesthetic improvement scale. RESULTS: All patients exhibited improvement in SDA at 3 months, with further improvement at 6 months. Physicians' assessment with the quartile grading scale showed that 8 patients improved moderately, whereas 2 had good improvement at 6 months. The mean overall SDA score was 11.6 at baseline, 11.1 (not significant) at 1 month, 7.9 (P = 0.005) at 3 months, and 6.2 (P = 0.005) at 6 months. All patients had improved global aesthetic improvement scale at 3 and 6 months, with 4 patients being much improved, and 3 patients being very much improved at 6 months. At the end of the study, all patients were less bothered with their SDA compared with baseline with a mean reduction of 2.7 in visual analog score, and all patients were satisfied or very satisfied with the treatment. No adverse events occurred. CONCLUSION: A single combination treatment of MFU-V and diluted CaHA+ improves SDA without side effects and may be considered for patients seeking to minimize SDA.

Diabetes-Related Emotional Distress among Children/Adolescents and Their Parents: A Descriptive Cross-Sectional Study.

Childhood diabetes is a rising concern as the overall annual increase in diabetes among children/adolescents is estimated to be around 3% over the past decade. Diabetes management places children/adolescents and their parents at greater risks of psychological distress. This study aims to measure the levels of diabetes-related emotional distress in children/adolescents with diabetes and their caregiving parents and to identify associations between sociodemographic characteristics and clinical variables in Singapore. A cross-sectional study was conducted using validated questionnaires. Ninety-two parent-child/adolescent dyads completed self-reported questionnaires. Elevated levels of diabetes-related distress were found in both children/adolescents with diabetes and their parents. Female children/adolescents with diabetes, low-income households, and less-educated parents of children/adolescents with diabetes were more susceptible to diabetes-related distress. It is important for healthcare professionals to educate less-educated parents in the management of their children's/adolescents' diabetes. Greater financial assistance should be provided to low-income households that may not have access to advanced diabetes treatments.

Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).

Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by a deficiency or absence of alpha-galactosidase A (α-GAL A) enzyme, where stroke can be a serious complication. The aim of this study is to determine the feasibility of centralized screening for FD, among young stroke adults registered in the national Australian Stroke Clinical Registry (AuSCR). Methods: The study was conducted in young (age 18 - 55 years) survivors of acute stroke of unknown etiology registered in AuSCR at hospitals in Queensland, Tasmania, New South Wales, and Victoria during 2014 - 2015; and who, at the 3-month outcome assessment, agreed to be re-contacted for future research. Descriptive analyses of case identification from responses and specific enzyme and DNA sequencing analyses were conducted for α-galactosidase A (α-GLA) from dried blood spot (DBS) testing. Results: Of 326 AuSCR-identified patients invited to participate, 58 (18%) provided consent but six were subsequently unable to provide a blood sample and two later withdrew consent to use their data. Among the remaining 50 participants (median age 53 years [48 - 56 years]; 47% female), 67% had experienced an acute ischemic stroke. All males (n = 27) had an initial screen for α-GLA enzyme activity of whom seven with low enzyme levels had normal secondary α-GLA gene analysis. All females (n = 23) had genetic analysis, with one shown to have a pathogenic c.352C>T p.(Arg118Cys) missense mutation of the α-GLA gene for FD. Conclusions: These findings provide logistical data for embedding a process of automated central stroke registry screening for an additional case-finding tool in FD.

A New Simplified Visual Assessment Tool Describing Facial Morphotypes Observed and Desired in Asian Populations.

OBJECTIVE: A group of established aesthetic physicians sought to develop treatment guidelines for assessing Asian face morphologies that reflect accurate and current beauty standards across Asia. DESIGN: Physicians completed surveys, debated, and voted on their clinical strategies and developed an alternative simplified visual tool of assessment (SVAT) that discerns between country variations in genetic and ideal morphotypes. SETTING: Electronic and paper surveys were followed by consensus debates and voting. PARTICIPANTS: Established aesthetic physicians practicing regularly on Asian patients. MEAUSUREMENTS: A clinically applicable SVAT was developed, which considered facial index, mid-face projection, upper and lower face shape, submalar contour, nose length and dorsal height, eye shape and brow shape, proportion of lips-to-lower face and ratio of upper-to-lower lip, and chin shape. RESULTS: For facial shape change, physicians always assessed the horizontal thirds, facial symmetry, and lip-chin complex profile, and also analyzed overall face shapes and Ogee curves. Criteria for creating oval-shaped faces was also defined and included treating indications, such as loss of angularity and bilateral masseter muscle hypertrophy, narrow jawlines, and longer and wider foreheads. Critical differences and similarities in country-specific aesthetic preferences, treatment requests, and considerations or strategies were uncovered, including the inadequacy of assessing overall peripheral facial shapes. CONCLUSION: This consensus establishes the assessment and treatment criteria for achieving ideal shapes for Asian patients. Specific descriptors are affected by variations; therefore, we present the visual criteria for Asian facial morphotypes. We hope that physicians new to treating Asian patients can use this clinical information to improve their practice.