Hereditary Multiple Exostoses Treatment Market growth is projected to reach USD 1.40Billion, at a 5.48% CAGR by driving industry size, share, top company analysis, segments research, trends and foreca...

Hereditary Multiple Exostoses Treatment Market growth is projected to reach USD 1.40Billion, at a 5.48% CAGR by driving industry size, share, top company analysis, segments research, trends and foreca...

US Stethoscope Market to Grow at a CAGR of 3.65% (2025 - 2035), US Stethoscope Market Industry Analysis by Type, End User

Noonan Syndrome and Speech Apraxia

Alpha Thalassemia Market is expected to grow at a CAGR over 11.23% from 2024 to 2032, Global Alpha Thalassemia Industry categorizes the Global Market by Type, Diagnosis, Treatment and End User | Alpha...

Primary Ciliary Dyskinesia Market CAGR is expected to be around 4.13% during the forecast period 2024 - 2032

Klippel-Trenaunay Syndrome Treatment Market is projected to reach USD 3.1 billion by 2032, growing at a CAGR of 4.73% during the forecast period.

This article examines the complexities and evolving landscape of treatment and care for infants diagnosed with Trisomy 18, also known as Edwards syndrome, a rare genetic disorder characterized by…

[Public Health, Alabama Department of] ADPH is excited to announce that on March 13 newborn screening began for two additional treatable genetic disorders.

Advocates highlight symptoms and risks of Beckwith-Wiedemann Syndrome to increase public awareness.

Background: Chromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages. Currently, invasive procedures such as amniocentesis or chorionic villus sampling are mostly used, which carry a risk of miscarriage. This has led to the need for a noninvasive and innovative approach to detect and prevent chromosomal abnormalities during pregnancy. Objective: This review aims to describe and appraise the potential of internet-based abnormal chromosomal preventive measures as a noninvasive approach to detecting and preventing chromosomal abnormalities during pregnancy. Methods: A thorough review of existing literature and research on chromosomal abnormalities and noninvasive approaches to prenatal diagnosis and therapy was conducted. Electronic databases such as PubMed, Google Scholar, ScienceDirect, CENTRAL, CINAHL, Embase, OVID MEDLINE, OVID PsycINFO, Scopus, ACM, and IEEE Xplore were searched for relevant studies and articles published in the last 5 years. The keywords used included chromosomal abnormalities, prenatal diagnosis, noninvasive, and internet-based, and diagnosis. Results: The review of literature revealed that internet-based abnormal chromosomal diagnosis is a potential noninvasive approach to detecting and preventing chromosomal abnormalities during pregnancy. This innovative approach involves the use of advanced technology, including high-resolution ultrasound, cell-free DNA testing, and bioinformatics, to analyze fetal DNA from maternal blood samples. It allows early detection of chromosomal abnormalities, enabling timely interventions and treatment to prevent adverse outcomes. Furthermore, with the advancement of technology, internet-based abnormal chromosomal diagnosis has emerged as a safe alternative with benefits including its cost-effectiveness, increased accessibility and convenience, potential for earlier detection and intervention, and ethical considerations. Conclusions: Internet-based abnormal chromosomal diagnosis has the potential to revolutionize prenatal care by offering a safe and noninvasive alternative to invasive procedures. It has the potential to improve the detection of chromosomal abnormalities, leading to better pregnancy outcomes and reduced risk of miscarriage. Further research and development in this field is needed to make this approach more accessible and affordable for pregnant women.

<p>The Journal of Biochemical and Clinical Genetics (JBCGenetics) aims to provide continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as phenotype...

Symptoms of Werner syndrome, which causes premature aging, can appear in a person's teens and progress quickly in their 20s and 30s.

Background: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life. Objective: The aim of this study was to better understand the burden of CDD based on family caregivers’ perceptions. Methods: The study was a cross-sectional, web-based survey comprising 40 questions for caregivers of patients with CDD and focusing on sociodemographic and medical characteristics, disease burden, unmet needs, treatments, and support. An adapted version of the EQ-5D-5L instrument was included to measure patients’ health-related quality of life as perceived by their caregivers. Results: A total of 132 caregivers, mostly from western parts of Europe, responded. The median patient age was 7.6 (IQR 2.9-12.2) years. Seizure onset occurred early, with the median onset at 2.0 (IQR 1.0-3.0) months of age. The median age at diagnosis was 1.2 (IQR 0.6-4.0) years. Epilepsy (123/132, 93.2%) and limited communication skills (111/132, 84.1%) were the most commonly reported symptoms. The highest number of different types of symptoms was reported for patients aged 5-9 years, with a median of 9.0 (IQR 7.5-10.0) symptoms. Most patients with epilepsy experienced daily seizures (81/123, 65.9%), and nearly all (119/123, 96.7%) were on antiseizure medications. A minority was on a ketogenic diet (21/123, 17.1%) or underwent vagus nerve stimulation (14/123, 11.4%). The care received was multidisciplinary. Compared to younger patients, adults had fewer medical appointments and a smaller variety of health care professionals in their care team. The EQ-5D-5L, adapted for caregivers, indicated low health-related quality of life for patients, with a median global index value of 0.18 (IQR 0.11-0.32). The most severe consequences of CDD on patients’ daily lives were reported for mobility (88/132, 66.7%), self-care (120/132, 90.9%), and everyday activities (103/132, 78.0%). Caregiver burden was also substantial, with all life aspects reportedly impacted by CDD, including professional life and financial resources (median impact ratings of 9.0/10 and 7.0/10, respectively). Access to support and care varied depending on location. Caregivers outside Europe reported a longer time between the first seizure and diagnosis (26.5, IQR 3.2-47.0 months) compared to European caregivers (11.0, IQR 5.0-45.0 months). They also reported a higher impact of CDD on their financial resources (rating of 10/10) compared to European caregivers (rating of 6/10) and greater challenges in covering costs. Conclusions: The study findings provide valuable insights on symptoms and disease burden related to CDD. This burden was quantitatively characterized with the EQ-5D-5L for the first time and was perceived as substantial by family caregivers. Discrepancies between geographic regions and age groups were highlighted, especially regarding available support and access to resources and care.