Malnutrition is defined as insufficient or excessive nutrient intake, an imbalance of essential nutrients, or impaired utilization of nutrients. These issues can result in changes in body composition, decreased physiological function, and impaired mental status, all of which negatively affect patients' quality of life, physical function, ability to engage in independent activities, and overall clinical outcomes. Consequently, malnutrition can lead to higher morbidity rates, prolonged hospital stays, increased mortality rates, and elevated healthcare expenditures. Regardless of patients' age, medical history, or physical condition, all individuals should be screened for malnutrition risk using a malnutrition risk screening tool. This approach facilitates the early identification of patients at risk of malnutrition, allowing for the timely initiation of personalized nutrition support to prevent or reverse malnutrition. In clinical practice, various malnutrition risk screening and assessment tools are available, tailored to different diseases, age groups, and medical environments. However, these tools vary in their effectiveness, consistency, reliability, and applicability. This paper provides an overview of the research progress on methods for screening malnutrition and assessing malnutrition risk in hospitalized adult patients.

Malnutrition is defined as insufficient or excessive nutrient intake, an imbalance of essential nutrients, or impaired utilization of nutrients. These issues can result in changes in body composition, decreased physiological function, and impaired mental status, all of which negatively affect patients' quality of life, physical function, ability to engage in independent activities, and overall clinical outcomes. Consequently, malnutrition can lead to higher morbidity rates, prolonged hospital stays, increased mortality rates, and elevated healthcare expenditures. Regardless of patients' age, medical history, or physical condition, all individuals should be screened for malnutrition risk using a malnutrition risk screening tool. This approach facilitates the early identification of patients at risk of malnutrition, allowing for the timely initiation of personalized nutrition support to prevent or reverse malnutrition. In clinical practice, various malnutrition risk screening and assessment tools are available, tailored to different diseases, age groups, and medical environments. However, these tools vary in their effectiveness, consistency, reliability, and applicability. This paper provides an overview of the research progress on methods for screening malnutrition and assessing malnutrition risk in hospitalized adult patients.

OBJECTIVETo detect rare types of thalassemia mutations among southern Chinese population.

METHODSPeripheral blood samples from 327 patients from various regions of southern China were collected. The patients were suspected as rare-type thalassemia for their inconsistency between hematological phenotypes and results of routine mutation screening. The samples were further analyzed with GAP-PCR and DNA sequencing.

RESULTSOne hundred and eight cases were diagnosed as rare types of thalassemia. Among whom 10 rare α-globin gene mutations including --THAI, HKα, αααanti3.7, αααanti4.2, -α2.8, -α27.6, CD74 GAC>CAC (Hb Q-Thailand), CD30 (-GAG), CD31 AGG>AAG and CD118 (+TCA), and 12 rare β-globin gene mutations including CD37 TGG>TAG, CD39 CAG>TAG/CD39 CAG>TAG, β II-2 (-T), -90(C>T), -31(A>C), -88(C>T), CD7(-A), CD138(+T), CD89-93 (--AGTGAGCTGCACTG), CD54-58 (-TATGGGCAACCCT), Chinese G γ +(A γδβ)0 and Vietnamese HPFH (HPFH-6) were identified. -88(C>T) (HBB: c.-138C>T) and CD39 CAG>TAG (HBB: c.118C>T) were discovered for the first time in Chinese population. CD7(-A) (HBB: c.23delA) and CD138(+T) (HBB: c.416_417insT) were new types of β-globin gene mutations.

CONCLUSIONThe present study have enriched the mutation spectrum of thalassemia in southern China, which has provided necessary information for its diagnosis.

Humans ; Mutation ; Thalassemia ; genetics ; alpha-Globins ; genetics ; beta-Globins ; genetics