The common deletion mutations of α-globin genes in the Vietnamese population is not well known. Here we report the presence of five deletional mutations of Southeast Asia in the southern region of Vietnam. The - -(SEA) (NG_000006.1: g.26264_45564del19301) mutation is the most common type of deletion (87.35%), followed by the -α(3.7) (rightward) (NG_000006.1: g.34164_37967del3804) deletion (9.64%), -α(4.2) (leftward) (AF221717) deletion (2.41%) and - -(THAI) (NG_000006.1: g.10664_44164del33501) (0.6%) mutation in this region. The - -(FIL) (NG_000006.1: g.11684_43534del31581) mutation was not detected in this study. This result provided a view of the distribution of common α-globin gene mutations in Vietnam and could serve as a baseline for further investigations into these genetic defects.
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http://dx.doi.org/10.3109/03630269.2016.1166126 | DOI Listing |
Int J Lang Commun Disord
December 2024
Hearing, Speech & Language Center, Sheba Medical Center, Tel Hashomer, Israel.
Background: Head and neck cancer (HNC) is amongst the 10 most common cancers worldwide and has a major effect on patients' quality of life. Given the complexity of this unique group of patients, a multidisciplinary team approach is preferable. Amongst the debilitating sequels of HNC and/or its treatment, swallowing, speech and voice impairments are prevalent and require the involvement of speech-language pathologists (SLPs).
View Article and Find Full Text PDFBehav Res Methods
December 2024
Department of Psychology, Bielefeld University, Universitätsstraße 25, 33615, Bielefeld, Germany.
Following the (revised) latent state-trait theory, the present study investigates the within-subject reliability, occasion specificity, common consistency, and construct validity of cognitive control measures in an intensive longitudinal design. These indices were calculated applying dynamic structural equation modeling while accounting for autoregressive effects and trait change. In two studies, participants completed two cognitive control tasks (Stroop and go/no-go) and answered questions about goal pursuit, self-control, executive functions, and situational aspects, multiple times per day.
View Article and Find Full Text PDFInt J Bipolar Disord
December 2024
Department for Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt-Goethe University, Frankfurt am Main, Germany.
Background: Attention-deficit/hyperactivity disorder (ADHD) is a common neuro-developmental disorder that often persists into adulthood. Moreover, it is frequently accompanied by bipolar disorder (BD) as well as borderline personality disorder (BPD). It is unclear whether these disorders share underlying pathomechanisms, given that all three are characterized by alterations in affective states, either long or short-term.
View Article and Find Full Text PDFCEN Case Rep
December 2024
Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Minato-Ku, Tokyo, 105-8461, Japan.
Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide with heterogeneous histopathological phenotypes. Although IgAN with membranoproliferative glomerulonephritis (MPGN)-like features has been reported in children and adults, treatment strategies for this rare IgAN subtype have not been established. Here, we present the case of a 56-year-old man with no history of kidney disease who initially presented with nephrotic syndrome.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Internal Medicine, Pusan National University School of Medicine, Busan, South Korea.
Proton pump inhibitors (PPIs) are among the most widely used drugs worldwide. However, their influence on the progression of end-stage kidney disease (ESKD) in established chronic kidney disease (CKD) cases is unclear. Using the Korean Health Insurance Review and Assessment database encoded by the Observational Medical Outcomes Partnership-Common Data Model (OMOP-CDM), patients with stage 3 or 4 CKD initiating PPIs or histamine-2 receptor antagonists (H2RAs) for over 90 days were enrolled from 2012 through 2021.
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