Day: November 29, 2023

Nov 29

WMCHC receives gold award for blood pressure control

Wayne Memorial Community Health Centers (WMCHC) was recognized by the American Heart Association and American Medical Association for efforts to improve blood pressure control as part of the Target: BP (targetbp.org) initiative, a national evidence-based quality improvement program. WMCHC’s primary care offices earned a Gold level award based on data verifying that high blood pressure is controlled in 70% or more of the adult patients affected across its nine primary care sites. Shown representing WMCHC are, left to right, Michelle Corrigan, RN, clinical care coordinator/risk manager; Jo-Ann Sames, RN, supervisor, Forest City Family Health Center; Jennifer Allison, LPN, practice manager, pediatric services; Christina MacDowell, CNM, DNP, practice manager, Women’s Health Center; Kara Poremba, MSHA, BSN, chief quality officer; Erica Brown, chief development officer; Wynter Newman, chief administrative officer; James Cruse, MD, chief medical officer; Teresa Lacey, RN, CEO and Robert Fortuner, CFO.

Nov 29

Diagnosis for 11.29.23 Checking the pulse of Florida health care news and policy

Welcome back to Diagnosis, a vertical that focuses on the crossroads of health care policy and politics. ___ — Budgetary matters — Gov. Ron DeSantis may spend a lot of time on the campaign trail, but we also expected him to roll out his budget for 2024 in the next several days. Senate committees have already scheduled Dec. 6 to hear presentations from DeSantis’ budget staff in several areas, including the Governor’s budget recommendations on health care spending and key agencies such as the Agency for Health Care Administration (AHCA) and the Department of Health (DOH). DeSantis must submit his spending plan to state legislators at least 30 days before the scheduled Jan. 9 opening day of Session. The timeline laid out by the Senate suggests the Governor will release it between now and next Tuesday. Session is approaching, time for Florida to pay its tab. This will be the sixth set of budget recommendations outlined by DeSantis, but unlike the last several years, he has yet to give a lot of hints or spelled out many of his top priorities ahead of time. Given the state’s continued budget surplus, DeSantis has suggested he will probably ask for a fresh round of tax cuts. Still, he needs to outline many other significant spending items. One item of interest will be the state’s Medicaid budget and how much state money will need to be set aside for the program funded jointly with the federal government. State economists have projected the caseload will continue to drop from a peak during the COVID-19 emergency as state officials continue to trim the rolls even as outside groups and even the federal government raise alarm bells at the rate. Medicaid enrollment during the calendar year has dropped from 5.77 million at the end of April to 5.10 million at the end of October. Economists had previously projected that Medicaid enrollment would dip to about 5.02 million by the end of June 2024. ___ I welcome your feedback, questions and especially your tips. You can email me at [email protected] or call me at 850-251-2317. — Grand jury update — Nearly a year ago, at DeSantis’ urging, the Florida Supreme Court agreed to impanel a statewide grand jury to look at pharmaceutical companies and others involved in developing and distributing COVID-19 vaccines. But so far, the grand jury has issued no reports or given any updates on its work and, at some point, the clock will tick down. Statewide grand juries are appointed for one year. However, the court can extend the term by six months if petitioned by a majority of the statewide grand jury or by the legal adviser to the statewide grand jury. A grand jury looking at immigration issues, for example, asked for and was granted an extension until April 2024. The clock is ticking for a grand jury to look into vaccine production. The one-year mark, however, is not tied to the court’s order but to when the grand jury itself is seated, according to a representative for the Supreme Court. That date appears to have been later in the spring of 2023. A key question remains whether the grand jury will produce findings that DeSantis can tout on the presidential campaign trail. The Iowa caucuses are Jan. 15, and the DeSantis campaign is counting on a solid showing for momentum in his challenge to former President Donald Trump. DeSantis, who early on promoted the use of vaccines only to express skepticism on their effectiveness later, filed a petition in December 2022 asking the court to bless the creation of a grand jury to look into the safety and efficacy of vaccines, adding that “an investigation is warranted to determine whether the pharmaceutical industry has engaged in fraudulent practices.” During his presidential bid, DeSantis faulted Trump for sticking by top medical adviser Anthony Fauci. So, any adverse findings from the grand jury might aid the Governor’s criticisms of Trump. The COVID-19 vaccine grand jury is currently presided over by the chief judge of Hillsborough County, with jurors selected from five different circuits in central and southwest Florida. — Achtung, Weida — According to social media sites, AHCA Secretary Jason Weida has been in Germany as part of the state’s trade mission, attending a health technology trade show and meeting with German health care officials and physicians. Weida led Florida’s mission to the @MEDICATradeFair in Germany. ABHI, an acronym for the Association of British HealthTech Industries, sponsored the four-day trade show. Achtung, baby. Meanwhile, the state Commerce Department posted on X that dozens of Florida medical companies displayed “cutting-edge, high-quality medical products and services.” Weida also met with the Bavarian State Ministry of Health, which oversees the health care system for Bavaria’s 13 million residents. Weida posted on X that the meeting “focused on hospital regulation, pharmaceutical pricing, and demographic changes and challenges.” He also met with Klinikum Rechts der Isar CEO and medical director Dr. Martin Siess. “Among other things, we discussed cancer treatment and innovation in the field of nuclear medicine with the head of the hospital’s department, Dr. Wolfgang Weber. I look forward to continuing our discussion of cancer innovation and connecting them with thought leaders in Florida,” Weida wrote on X. Germany has universal health coverage provided by Statutory Health Insurance (SHI) and private health insurance (PHI). SHI is mandatory unless a person earns enough to opt out and purchase the PHI. Approximately 88% of the population receives primary coverage through SHI and 11% have PHI, according to The CommonWealth Fund. — Naloxone confusion — A Senate health panel next week is expected to advance legislation establishing June 6 as Naloxone Awareness Day. SB 66 creates in statute “Victoria’s Law,” which encourages the DOH to hold events to “raise awareness of the dangers of opioid overdose and the availability and safe use of naloxone as an effective way to rapidly reverse the effects of opioid overdose.” But there is a battle of sorts going on between providers

Nov 29

In defense: Shield your ears from infections

City doctors report rise in ear infections among both young and adults; they advise regular handwashing, wearing masks, and using sanitisers to curb spread of viral infections The recent shift in weather patterns has triggered a notable rise in viral infections, and it is likely exacerbated by the increased movement of people between cities. Health professionals are seeing a spike in the number of viral infection cases, and there has also been an uptick in the number of ear infections among both young and adults. Dr NG Kanchan, Consultant, Internal Medicine, Trilife Hospital, pointed out that on average, they are seeing 25 to 30 cases of ear infections in a week, and the most common causes of ear infections are viral and bacterial infections. The doctors have advised bringing back the concept of wearing masks for those affected by the infections so that they don’t spread from one person to another. Dr Kanchan said, “We need to start wearing masks on a regular basis, especially when we visit crowded places, attend functions, or are visiting a gathering. Recurrent hand washing is also advised, as is the use of sanitisers and sanitising wipes. They also help with regular cleaning of surfaces where we come into constant contact with our phones, laptops, or tabletops. The bed spreads have to be repeatedly sanitised and changed. Also, we have to avoid contacts such as recurrent contact with plants, be it indoor plants or outdoor gardening, which have to be a little curtailed, especially when we have some mild symptoms of infections, such as ear infections. “ Furthermore, Dr Rajath Athreya, Senior Consultant and HOD, Paediatrics and Neonatology, Sakra World Hospital Bengaluru, said, “Viral infections often stem from respiratory viruses, with rhinovirus, adenoviruses, and influenza viruses (commonly known as the flu virus) being prevalent. Respiratory syncytial virus (RSV) is also widespread. Additionally, there are viral infections associated with gastrointestinal issues and dengue. Presently, respiratory viruses, particularly flu-like illnesses, dominate the list of common viral infections. Over the past six months, there has been a rise in reported cases of viral infections. Initially, adenovirus dominated for two months, followed by the prevalence of influenza A and B. Subsequently, there was a surge in RSV. Presently, there is a mix of various respiratory viruses being observed.” According to Dr Athreya, children are the predominant age group being reported, and they are experiencing successful recovery primarily through outpatient care. A minor percentage necessitates hospital admission, with approximately 20–30 children presenting with respiratory viral infections and fevers on any given day. Among these cases, about half exhibit flu-like symptoms, and only 3–4 children, constituting a small proportion, require hospitalisation, with an even smaller fraction admitted to the intensive care unit (ICU). Dr Girish Anand, MS Consultant, ENT Surgery, Aster CMI Hospital, pointed out that the recent uptick has been observed to be due to travelling from city to city and weather change. “When a person travels to multiple cities or is an international traveller, they act as carriers of infections and one of the causes for spreading the infection. The mechanism of viral action is that once a virus enters a body, it travels along the cells of the body until it binds to the receptors on the cells and enters them to reproduce such viruses in plenty,” he said. Key preventive measures:• Avoid coming into close contact with infected people• Practice hand hygiene; wash your hands frequently • Use a mask and cover your mouth while coughing and sneezing• Stay hydrated and drink a lot of fluids• Get vaccinated to prevent viral infections

Nov 29

Adults with rare blood disorder to be offered stem cell transplants

For free real time breaking news alerts sent straight to your inbox sign up to our breaking news emails Sign up to our free breaking news emails Hundreds of adults with a severe inherited blood disorder could benefit from stem cell transplants to cure their condition under new guidelines by the NHS. Officials said the treatment for thalassaemia – which was previously only available to children – would mean patients no longer require lifelong blood transfusions. Thalassaemia is a rare condition that impacts the production of haemoglobin in the blood. Symptoms include severe anaemia and tiredness, with patients requiring blood transfusions every two to four weeks. The stem cell transplant procedure – known as allogeneic haematopoietic stem cell transplant (Allo-HSCT) – replaces the bone marrow stem cells with ones from a matched sibling donor. It was previously only offered to children due to the risk of complications in adults. Expanding the availability of stem cell transplants to adults living with thalassaemia is another vital step forward to help change the lives of those living with this deeply debilitating condition Prof Sir Stephen Powis New guidance from NHS England’s Clinical Priorities Advisory Group recommended it be made available for eligible patients over 18, with more than 600 people set to benefit. Professor Sir Stephen Powis, NHS England medical director, said: “Expanding the availability of stem cell transplants to adults living with thalassaemia is another vital step forward to help change the lives of those living with this deeply debilitating condition. “Thalassaemia can be an incredibly painful condition with difficult symptoms for patients as well as the impact on their heart, liver and bones, and it’s fantastic that offering this evidence-based curative stem cell treatment can now offer new hope to help significantly improve their quality of life.” There are currently 2,281 people with thalassaemia registered on the National Haemoglobinopathy Registry (NHR) in the UK, including 1,332 over the age of 18. While it is a huge step in the right direction and a monumental win for thalassaemia, we also eagerly await the much-needed approval for gene therapies Romaine Maharaj Romaine Maharaj, UK Thalassaemia Society executive director, hailed the news as a “remarkable milestone”. “While it is a huge step in the right direction and a monumental win for thalassaemia, we also eagerly await the much-needed approval for gene therapies,” she added. “Having both curative options available will grant more patients the chance to live transfusion-independent lives, enhancing both their quality of life and life expectancy.” It comes after a world-first gene therapy for sickle cell disease and beta thalassemia was approved for use The Medicines and Healthcare products Regulatory Agency (MHRA) earlier this month. The treatment, known as Casgevy, is the first to be licensed using gene-editing tool Crispr, for which its inventors were awarded the Nobel prize in 2020. It works by editing the faulty gene in a patient’s bone marrow stem cells so that the body produces functioning haemoglobin.

Nov 29

Blood Glucose Monitoring Devices Market Growth Accelerating with Increasing Prevalence of Diabetes and Demand for Early Diagnosis | Future Market Insights, Inc.

NEWARK, Del, Nov. 30, 2023 (GLOBE NEWSWIRE) — According to estimates, the blood glucose monitoring devices market will be worth US$14.2 billion by 2024. By 2034, the market is predicted to reach a valuation of US$ 22.2 billion. According to market research, the global aging population and rising diabetes prevalence are responsible for the shift toward blood glucose monitoring equipment. The behavioral shifts, particularly leading a sedentary lifestyle and reduction in physical activities, have had a harmful influence on people’s health, with diabetes and obesity cases rising, with even children exhibiting symptoms. Obesity, age, family history, low socioeconomic position, metabolic syndrome, obesity, as well as bad lifestyle choices, have all been linked to a greater risk of type 2 diabetes mellitus. Obesity is currently understood to be the most significant factor for prediabetes and type 2 diabetes. The buildup of visceral and ectopic fat, which is strongly correlated with hyperinsulinemia and insulin resistance, is now recognized as one of the major risk factors for type 2 diabetes mellitus requiring timely assessment of the condition as well as regular monitoring through blood glucose monitoring devices driving the market growth for these devices. Get a Sample Copy of the Report: https://www.futuremarketinsights.com/reports/sample/rep-gb-18313 The use of steroids by the COVID-19-infected patients resulted in elevated sugar levels and a surge in diabetes cases. Hence, the use of glucose monitoring devices had seen a surge during this period of time. Countries have favorable reimbursement policies for diabetes care products under National Health Insurance. People can access self-monitoring devices at little or no cost in nations where NHI (National Healthcare Insurance) programmers partially or totally cover the cost of these products. A number of technological developments have compelled manufacturers to release devices that can do reliable and quick testing with alternative-site testing and a smaller sample amount, and that are non-invasive or minimally invasive. These advancements will spur a surge in the blood glucose monitoring devices market growth. “Global market expansion for blood glucose monitoring devices is expected to be driven by changes in lifestyle and a decline in physical activity, which will increase obesity and, in turn, insulin resistance giving rise to increased diabetes cases,” opines Sabyasachi Ghosh, Associate Vice President at Future Market Insights (FMI). Key Takeaways: Self-monitoring devices are the leading segment as a product, and hold around 71.4% market value share in 2022, owing to the ease of operation and easy availability of the device. The invasive blood glucose monitoring device segment is set to lead in terms of usage of blood glucose monitoring devices with a market value share of around 72.8% in 2022, due to the wide use of the devices at both hospitals and home. Retail pharmacy holds the highest market share of about 38.2% in the year 2022 in the distribution channel segment due to the easy availability of blood glucose monitoring devices in retail pharmacies. United States is considered the leading region with a value share of 38.8% in 2022, and is expected to show a growth of 7.4% during the forecasted period. Blood Glucose Monitoring Devices Market Size: Data Points Market Insights Market Value 2023 US$ 13.6 Billion Market Value 2024 US$ 14.2 Billion Market Value 2034 US$ 22.2 Billion CAGR 2023 to 2033 4.6 % Competitive landscape Blood glucose monitoring device manufacturers are operating at full capacity to meet the increasing demand for these devices. Market players are manufacturing new and innovative products and are undertaking clinical trials to demonstrate the advantages of these devices in enhancing therapy and supporting behaviour improvements to further increase adoption rates. Key players have initiated promotional activities to introduce the design and engineering of novel devices with enhanced efficacy. Lead With Data-Driven Decisions. Buy Now to Turn Insights into Competitive! https://www.futuremarketinsights.com/checkout/18313 Recent Development In June 2022, Ascensia diabetes care announced that it has received European CE approval for its next-generation Eversense E3 continuous glucose monitoring system. Patients in European markets will have access to this technology from the third quarter of 2022. DexCom in April 2022, announced that it is going to launch a new DexCom ONE, an easy to use real time continuous glucose monitoring system (rt-CGM). DexCom ONE is a wearable device that sends real time glucose level values to a compatible smart device via the DexCom ONE mobile application. Key Players: ARKRAY, Inc. Bayer AG; Medtronic plc F. Hoffmann-La Roche Ltd. Johnson & Johnson Ascensia Diabetes Care Nipro Diagnostics, Inc. Dexcom, Inc. Sanofi Terumo Medical Corporation Novo Nordisk Ypsomed Holdings Prodigy Diabetes Care, LLC GlySens Incorporated ACON Laboratories Nova Biomedical Medtronic Dexcom, Inc. LifeScan IP Holdings, LLC Senseonics Key Segments: By Product: Self-monitoring device Continuous blood glucose monitoring devices By Usage: Non-invasive Invasive By Modality: Standalone Portable By Indication: Type 1 Type 2 Gestational Diabetes By Distribution Channel: Retail Pharmacy Hospital Pharmacy Diagnostic Centres Online Sales By Region: North America Latin America Western Europe Eastern Europe Asia Pacific Excluding Japan (APEJ) Japan Middle East & Africa Author By: Sabyasachi Ghosh (Associate Vice President at Future Market Insights, Inc.) holds over 12 years of experience in the Healthcare, Medical Devices, and Pharmaceutical industries. His curious and analytical nature helped him shape his career as a researcher. Identifying key challenges clients face and devising robust, hypothesis-based solutions to empower them with strategic decision-making capabilities come naturally to him. His primary expertise lies in Market Entry and Expansion Strategy, Feasibility Studies, Competitive Intelligence, and Strategic Transformation. Holding a degree in Microbiology, Sabyasachi has authored numerous publications and has been cited in journals, including The Journal of mHealth, ITN Online, and Spinal Surgery News. Explore Future Market Insights, Inc. Extensive Coverage in Healthcare Domain: Glucose Sensor Market Analysis: In 2022, the global market is expected to be worth US$ 7,588 million. Global sales of glucose sensors are expected to grow at an 8.6% CAGR between 2022 and 2032, totaling around US$ 16,382 million by the end of 2032. Portable Medical Devices Market Trends: The global market is projected to expand at a CAGR of 10.7% during the forecast period. Wearable

Nov 29

Development of postoperative delirium prediction models in patients undergoing cardiovascular surgery using machine learning algorithms

Abstract Associations between delirium and postoperative adverse events in cardiovascular surgery have been reported and the preoperative identification of high-risk patients of delirium is needed to implement focused interventions. We aimed to develop and validate machine learning models to predict post-cardiovascular surgery delirium. Patients aged ≥ 40 years who underwent cardiovascular surgery at a single hospital were prospectively enrolled. Preoperative and intraoperative factors were assessed. Each patient was evaluated for postoperative delirium 7 days after surgery. We developed machine learning models using the Bernoulli naive Bayes, Support vector machine, Random forest, Extra-trees, and XGBoost algorithms. Stratified fivefold cross-validation was performed for each developed model. Of the 87 patients, 24 (27.6%) developed postoperative delirium. Age, use of psychotropic drugs, cognitive function (Mini-Cog < 4), index of activities of daily living (Barthel Index < 100), history of stroke or cerebral hemorrhage, and eGFR (estimated glomerular filtration rate) < 60 were selected to develop delirium prediction models. The Extra-trees model had the best area under the receiver operating characteristic curve (0.76 [standard deviation 0.11]; sensitivity: 0.63; specificity: 0.78). XGBoost showed the highest sensitivity (AUROC, 0.75 [0.07]; sensitivity: 0.67; specificity: 0.79). Machine learning algorithms could predict post-cardiovascular delirium using preoperative data. Trial registration: UMIN-CTR (ID; UMIN000049390). Introduction Delirium is a variable acute-onset disturbance of attention and consciousness that has multiple etiologies1. Surgery is a common risk factor for delirium, with postoperative delirium occurring in 14–24% of patients following non-cardiac surgery2,3. Furthermore, approximately 26–56% of cardiovascular surgery patients who require the use of cardiopulmonary bypass (CPB) develop postoperative delirium4,5,6,7. Delirium following cardiovascular surgery is independently associated with a decline in cognitive function8, activities of daily living (ADL)6,9,10 and increased mortality11. Thus, postoperative delirium is an important factor that influences patient prognosis. The American Heart Association issued a statement in 2020 to integrate measures against delirium into Cardiovascular Intensive Care Unit (ICU) care12. Recently, the European Society of Anesthesiology (2017)13 and POQI-6 (2019)14 have introduced guidelines for postoperative prevention and recommended multicomponent non-pharmacological interventions for delirium. The Hospital Elder Life Program (HELP)15, the most well-known non-pharmacological multidisciplinary program, reduces delirium by 53%16. However, it is difficult to apply these measures to all patients14. In a cross-sectional study of acute hospitals implementing HELP, the most common reasons for non-compliance with the original HELP program were lack of adequate staffing and budgetary limitation17. As pharmacological therapy, ramelteon and suvorexant also reportedly reduce delirium18,19, but premedication to prevent delirium is not recommended for use in all patients20. Therefore, early prediction and identification of individuals at high risk for delirium are needed to provide targeted and efficient interventions14,21. Several studies have aimed to predict postoperative delirium. However, the accuracy of prediction models for patients in the ICU is insufficient when applied to those undergoing cardiovascular surgery22, and delirium prediction models should be constructed only for a specific group of patients23. Conventional prediction models based on statistical methods for patients undergoing cardiovascular surgery include those by Koster24 and Rudolph4; both reported an area under the receiver operating characteristic curve (AUROC) of 0.75. Although statistical models such as logistic regression are favorable in terms of model interpretability, machine learning is preferred for prediction models25. Clinical prediction models using machine learning algorithms have recently attracted attention. In the area of cardiovascular surgery-associated postoperative delirium, both Mufti26 and Xue27 showed that the prediction performance of machine learning algorithms was superior to that of conventional statistical models, limited to hyperactive delirium and acute kidney injury-related delirium, respectively. Delirium is classified into three subtypes based on the type of psychomotor activity: hyperactive, hypoactive, and mixed1. Hypoactive delirium reportedly accounts for 92% of all cases of delirium in the cardiovascular ICU28. Therefore, we must assess and deal with delirium, including the hypoactive subtype which is often overlooked in clinical practice. We aimed to develop and validate new prediction models for cardiovascular surgery-associated postoperative delirium including hypoactive subtype using machine learning algorithms. Early identification of patients at high risk of delirium is critical to effectively implement prevention strategies, such as multicomponent interventions and prophylactic medications. Methods Setting and study population This single-center prospective study included patients aged ≥ 40 years who underwent cardiovascular surgery at Osaka University Hospital between November 2021 and October 2022. The inclusion criteria were patients who underwent coronary artery bypass graft (CABG), valve surgery, ascending aortic replacement (AAR) via a median sternotomy, or minimally invasive cardiac surgery (MICS) using cardiopulmonary bypass (CPB). The exclusion criteria were as follows: (1) patients undergoing transcatheter aortic valve implantation (TAVI) or thoracic endovascular aortic repair (TEVAR); (2) patients managed with deep hypothermic circulatory arrest or selective cerebral perfusion; (3) patients with preoperative delirium; (4) patients diagnosed and treated for dementia preoperatively; (5) patients requiring mechanical ventilation for > 3 days postoperatively, (6) patients with cerebral hemorrhage or stroke within 7 days after surgery; (7) patients requiring reoperation within 7 days after surgery; and 8) patients with suspected alcohol withdrawal delirium. The criteria for alcohol withdrawal delirium were consumption of an average of 60 g or more of alcohol per day immediately prior to admission and the development of delirium within 2 weeks of admission. Ethics declarations and consent to participate This study was approved by the Ethical Review Committee of Osaka University Hospital (No: 21158-3; 2021/09/11) and followed the Declaration of Helsinki. All patients provided written informed consent. Variable selection The electronic medical records of all patients were prospectively reviewed. We collected 38 preoperative factors, including demographics, medical history, laboratory data, and life history, as well as 10 intraoperative factors, including operation time, pump time, and blood fluid balance. The entire list of 48 variables can be found as Supplementary Table S1 and S2 online. A trained nurse visited the patients on any one day from admission to surgery and assessed their function using the Mini-Cog29 Japanese version, Geriatric Depression Scale-Short Version-Japanese (GDS-S-J)30, and Barthel Index31. Delirium assessment All patients were followed for 7 days, with day 0 being the day of surgery. Electronic medical records were reviewed daily. The evaluation of delirium began when the patient was extubated in the ICU. A psychiatrist (MH) or a critical nurse

Nov 29

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications

Abstract Oculocutaneous albinism is an inherited disorder of melanin biosynthesis, characterized by absent or reduced pigmentation of the skin, hair, and eyes. Molecular alterations of genes that cause non-syndromic albinism in Asian Indians are poorly characterized. This information would be useful for developing therapies for this disorder. We analyzed 164 persons with non-syndromic albinism, belonging to unrelated families from all parts of India, for molecular changes in the causative genes. Subjects with white hair, white skin, and red iris had their tyrosinase gene sequenced and were also tested by MLPA for deletions/duplications. Subjects with negative results or with darker skin, golden/brown or darker hair had sequencing of TYR, P, TYRP1, SLC45A2 and GPR143 genes. Pathogenic variants in TYR (OCA1) were observed in 139 (84.7%) patients, in the P gene (OCA2) in 20 (12.2%), in TYRP1 (OCA3) in two (1.2%), in SLC45A2 (OCA 4) in one (0.61%), and in GPR143 (X-linked ocular albinism) in two (1.2%) patients. Of 278 alleles with variants in TYR, 179 (64.3%) alleles had (p.R278*) alteration, suggesting the possibility of therapy with a stop codon readthrough molecule. We report 20 patients with 13 disease associated variants in the P gene and 18 novel pathogenic variants in TYR, P, TYRP1, SLC45A2 and GPR143 genes. The data are compared with those reported from India, Pakistan and rest of the world. The therapeutic options in albinism are briefly described, opening this field for future therapies. 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The variants are submitted to LOVD V3.0 as individual # 00435430, 00435573, 00435574, 00435575, 00436615, 00436616, 00436617, 00436618, 00436619, 00436620, 00436621, 00436622, 00436624, 00436625,00436626,00436627,00436636,00436637,00436638,00436639,00436640,00436641,00436642,00436643,00466644,00436645,00436666,00436667,00436668,00436669,00436670,00436671,00436675,00436676,00436777,00436778,00436784,00436785,00436786,00436787,00436788. References OMIM®Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore, MD; 1985. Albinism, Oculocutaneous, Type IA; OCA1A. # 203100; 6/2/1986 [Updated 01/27/2021]. Available from: https://www.omim.org/entry/203100. Summers CG, Albinism. In: Lambert SR, Lyons CJ, editors. Taylor and Hoyt’s pediatric ophthalmology and strabismus. 6th ed. USA: Elsevier Inc; 2022. 403–10. Kromberg JGR, Kerr R. Oculocutaneous albinism in southern Africa: historical background, genetic, clinical and psychosocial issues. Afr J Disabil. 2022;11:877. Article PubMed PubMed Central Google Scholar The Lancet Child Adolescent Health. Albinism: myths and reality. Lancet Child Adolesc Health. 2019;3:511. Article CAS PubMed Google Scholar Jeevan Trust. Raising awareness about albinism in India. India, 2016. Available from https://www.thebetterindia.com/50960/jeevan-trust-albinism-awareness/. Gupta A. Albinism India Group. Available from: https://www.facebook.com/groups/139027856116032. Verma IC, Anand NK, Modi UJ, Bharucha BA. Study of malformations and Down syndrome in India–a multi-centric study. Mumbai: Department of Atomic Energy, and Trombay, Bhabha Atomic Research Center; 1998). Master-Notani P, Kolah PJ, Sanghvi LD. Congenital malformations in the new born in Bombay II. Acta Genet Stat Med. 1968;18:193–205. CAS PubMed Google Scholar Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Mol Vis. 2005;11:531–4. CAS PubMed Google Scholar Chaki M, Sengupta M, Mukhopadhyay A, Subba Rao I, Majumder PP, Das M, et al. OCA1 in different ethnic groups of India is primarily due to founder mutations in the tyrosinase gene. Ann Hum Genet. 2006;70:623–30. Article CAS PubMed Google Scholar Ullah MI. Clinical and mutation spectrum of autosomal recessive non-syndromic oculocutaneous albinism (nsOCA) in Pakistan: a review. Genes. 2022;13:1072. Article CAS PubMed PubMed Central Google Scholar Ma EZ, Zhou AE, Hoegler KM, Khachemoune A. Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues. Arch Dermatol Res. 2023;315:107–16. Article PubMed Google Scholar Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, et al. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet. 1993;53:1173–9. CAS PubMed PubMed Central Google Scholar Sundaresan P, Sil AK, Philp AR, Randolph MA, Natchiar G, Namperumalsamy P. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. Mol Vis. 2004;10:1005–10. CAS PubMed Google Scholar Miyamura Y, Verma IC, Saxena R, Hoshi M, Murase A, Nakamura E, et al. Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). J Invest Dermatol. 2005;125:397–8. Article CAS PubMed Google Scholar Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, et al. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene. Br J Dermatol. 2010;163:487–94. Article CAS PubMed Google Scholar Chiang PW, Spector E, Scheuerle A. A case of Asian Indian OCA3 patient. Am J Med Genet A. 2009;149A:1578–80. Article CAS PubMed Google Scholar Sengupta M, Chaki M, Arti N, Ray K. 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Nov 29

Book review: Disappearance of Cherokee women fuels gripping ‘Blood Sisters’

‘Blood Sisters’ by Vanessa Lillie. Berkley, 384 pages, $27 Vanessa Lillie expertly balances a compassionate look at Native American culture and a comprehensive examination of the treatment by the government and white settlers, nTFL-L-book-blood-sistersever once allowing these issues to override the gripping plot of “Blood Sisters.” David Grann’s historical book “Killers of the Flower Moon: The Osage Murders and the Birth of the FBI” and the film based on his non-fiction have renewed interest in the plight and violence inflicted on Native Americans. Lillie’s meticulous research and skillful approach in “Blood Sisters” further explores this, joining other Native American mystery writers such as Ramona Emerson (“Shutter”), David Heska Wanbli Weiden (“Winter Counts”) and Marcie R. Rendon (“Sinister Graves”) telling their stories. Lillie, an enrolled citizen of the Cherokee Nation of Oklahoma, focuses “Blood Sisters” on the disappearances of Native American women, a tragedy often ignored by local authorities. The launch of a new series, “Blood Sisters” introduces Cherokee archaeologist Syd Walker, who works for the Rhode Island branch of the Bureau of Indian Affairs (BIA), which has come a long way since its original mission to “exterminate Native people, culture, and ways of life.” Now the agency is revising its image by trying to establish trust with indigenous communities. Syd’s supervisor reassigns her to the Oklahoma branch when her identification card, dating back to her college internship with the BIA, is found inside a skull near her parents’ land. “Blood Sisters,” by Vanessa Lillie (Berkley/Courtesy) Syd hasn’t been to her hometown of Picher in three years. She’s still haunted by dark memories when, 15 years before, two masked men invaded the trailer where she, her sister Emma Lou and best friend Luna Myers were watching TV. Luna and her family were eventually killed. The crime profoundly affected the community, Syd and Emma Lou. Syd went to college where she met her now-wife Mal and found a career while Emma Lou became an opiate addict. Although she has stayed away from Picher, Syd keeps in contact with her parents and sends regular gifts to Emma Lou’s daughter, Gracie. But long-distance contact has shielded Syd from what has been going on with Picher and her family. Unbridled mining has ravaged Picher, leaving the town economically depressed, many houses uninhabitable, some near collapse. Offers from the government to buy some houses has divided the residents. Syd’s family appear to be in league with people Syd considers criminals. Syd has tried to distance herself from Picher, but her boss is right when she says, “The places we’re from live within our DNA.” Syd learns that Emma Lou vanished a few days ago, one of several indigenous women who recently disappeared from the area. Her family insist that Emma Lou has kicked her drug habit, and that her disappearance is out of character. Lillie effectively delivers a moving story melding Native American rights and culture, a broken community and fully realized characters into a concise thriller that contains just enough action to keep the story believable. The intelligent Syd, with her complicated life and dark memories, is a strong character. Set in 2008 with frequent dips into the distant past, “Blood Sisters” works well as a historical mystery and a story about families, Native Americans and prejudice. “Blood Sisters” is an excellent start to what should prove to be a long-running series.

Nov 29

Dublin to Host Red Cross Blood Drive

The American Red Cross will be collecting blood donations from 10 a.m. to 4 p.m. on Friday, Dec. 8, at the Dublin Civic Center, 100 Civic Plaza. To schedule a donation, go to TRedCrossBlood.org and use the sponsor code “DublinCommunity” or 94568 zip code, or call 800-733-2767.