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Mol Genet Genomic Med 2021 Feb 24:e1621. Epub 2021 Feb 24.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.

Background: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such screening panels. Some cases have been reported with metabolic symptoms in childhood yet other cases describe a benign clinical course, suggesting the clinical phenotype is not well defined. Read More

Hemoglobin 2021 Feb 18:1-8. Epub 2021 Feb 18.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

β-Thalassemia (β-thal), an autosomal recessive hemoglobinopathy, is one of the most common genetic disorders in Pakistan. Awareness of this disease, genetic counseling, extended family carrier screening and prenatal diagnosis (PND) are helpful in prevention and control. Currently, direct DNA sequencing and multiple amplification refractory mutation system-polymerase chain reaction (MARMS-PCR) are the methods used to detect β-thal mutations, the latter being the most widely used. Read More

Front Cell Dev Biol 2020 22;8:624477. Epub 2021 Jan 22.

School of Immunology & Microbial Sciences, King's College London, London, United Kingdom.

Sickle Cell Disease (SCD) is an autosomal recessive disorder resulting from a β-globin gene missense mutation and is among the most prevalent severe monogenic disorders worldwide. Haematopoietic stem cell transplantation remains the only curative option for the disease, as most management options focus solely on symptom control. Progress in prenatal diagnosis and fetal therapeutic intervention raises the possibility of treatment. Read More

Animal 2020 Dec 10;15(1):100044. Epub 2020 Dec 10.

College of Animal Science and Technology, Gansu Agricultural University, Lanzhou 730070, PR China.

The physical form of starter feed may affect the gastrointestinal development and the performance of ruminant. However, little information is available on how changes in the physical forms of starter feed influence the performance of lambs, especially during the pre- and post-weaning periods. The aim of this study was to investigate the effects of different physical forms of starter feeds on growth performance, nutrient digestibility, gastrointestinal enzyme activity, and morphology of pre- and post-weaning lambs. Read More

J Korean Med Sci 2021 Jan 25;36(4):e26. Epub 2021 Jan 25.

Mirae & Heemang Obstetrics and Gynecology Clinic, Seoul, Korea.

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Read More