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Alström syndrome: the journey to diagnosis.
Orphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
View Article and Find Full Text PDFEffect of PCSK9 inhibitor on early neurological deterioration in acute ischemic stroke patients with a history of coronary heart disease: a study protocol for a randomized controlled trial in Dalian, China.
Trials
January 2025
Department of Neurology, the First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning Province, China.
Background: Early neurological deterioration (END) is a critical determinant influencing the short-term prognosis of acute ischemic stroke (AIS) patients and is associated with increased mortality rates among hospitalized individuals. AIS frequently coexists with coronary heart disease (CHD), complicating treatment and leading to more severe symptoms and worse outcomes. Shared risk factors between CHD and AIS, especially elevated low-density lipoprotein cholesterol (LDL-C), contribute to atherosclerosis and inflammation, which worsen brain tissue damage.
View Article and Find Full Text PDFPre-pregnancy BMI modifies the associations between triglyceride-glucose index in early pregnancy and adverse perinatal outcomes: a 5-year cohort study of 67,936 women in China.
Diabetol Metab Syndr
January 2025
The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, No. 910, Hengshan Rd., Shanghai, 200030, China.
Background: Triglyceride-glucose (TyG) index was suggested as a possible surrogate for insulin resistance and a predictor for cardiovascular diseases and diabetes in the non-pregnant population. However, the relationship between TyG index in early pregnancy and adverse pregnancy outcomes (APOs), and the contribution of pre-pregnancy body mass index (BMI) was still illusive.
Methods: A large retrospective cohort study involving 67,936 pregnant Chinese women between 2017 and 2022 was conducted.
Coronary health index based on immunoglobulin light chains to assess coronary heart disease risk with machine learning: a diagnostic trial.
J Transl Med
January 2025
Department of Clinical Laboratory, The First Hospital of Jilin University, Changchun, 130000, China.
Background: Recent studies suggest a connection between immunoglobulin light chains (IgLCs) and coronary heart disease (CHD). However, current diagnostic methods using peripheral blood IgLCs levels or subtype ratios show limited accuracy for CHD, lacking comprehensive assessment and posing challenges in early detection and precise disease severity evaluation. We aim to develop and validate a Coronary Health Index (CHI) incorporating total IgLCs levels and their distribution.
View Article and Find Full Text PDFMedical therapy to treat obesity and optimize fertility in women of reproductive age: a narrative review.
Reprod Biol Endocrinol
January 2025
Departments of Internal Medicine and Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, 330 Cedar St, New Haven, CT, 06510, USA.
Background: Overweight and obesity-chronic illnesses in which an increase in body fat promotes adipose tissue dysfunction and abnormal fat mass resulting in adverse metabolic, biomechanical, and psychosocial health consequences-negatively impact female fertility. Adverse conception outcomes are multifactorial, ranging from poor oocyte quality and implantation issues to miscarriages and fetal health issues. However, with the advent of novel pharmacologic agents, significant weight loss can be achieved, improving the chances of healthy pregnancies, and their use should be considered during periconceptual counseling.
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