Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G＞C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G＞A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.

Purpose: Nutritional support for adult critically ill patients is essential due to the high risk of malnutrition, which can lead to severe complications. This paper aims to develop evidence-based guidelines to optimize nutritional support in intensive care units (ICUs). Methods: The Grading Recommendations, Assessment, Development and Evaluation process was used to develop and summarize the evidence on which the recommendations were based. Clinical outcomes were assessed for seven key questions. Results: We recommend the following: (1) initiate enteral nutrition (EN) within 48 hours after treatment as it is associated with improved outcomes, including reduced infection rates and shorter ICU stays; (2) early EN is preferred over early parenteral nutrition due to better clinical outcomes; (3) the use of supplementary parenteral nutrition to meet energy targets during the first week of ICU admission in patients receiving early EN is conditionally recommended based on patient-specific needs; (4) limited caloric support should be supplied to prevent overfeeding and related complications, particularly in the early phase of critical illness; (5) higher protein intake is suggested to improve clinical outcomes, such as muscle preservation and overall recovery; (6) additional enteral or parenteral glutamine is conditionally recommended against due to the lack of significant benefit and potential harm; and (7) fish oil-containing lipid emulsions is conditionally recommended due to their potential to enhance clinical outcomes, including reduced infection rates and shorter ICU stays. Conclusion These evidence-based recommendations can improve clinical outcomes and support healthcare providers in making informed decisions about nutritional interventions in the ICU.

Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G＞C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G＞A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.

Purpose: Nutritional support for adult critically ill patients is essential due to the high risk of malnutrition, which can lead to severe complications. This paper aims to develop evidence-based guidelines to optimize nutritional support in intensive care units (ICUs). Methods: The Grading Recommendations, Assessment, Development and Evaluation process was used to develop and summarize the evidence on which the recommendations were based. Clinical outcomes were assessed for seven key questions. Results: We recommend the following: (1) initiate enteral nutrition (EN) within 48 hours after treatment as it is associated with improved outcomes, including reduced infection rates and shorter ICU stays; (2) early EN is preferred over early parenteral nutrition due to better clinical outcomes; (3) the use of supplementary parenteral nutrition to meet energy targets during the first week of ICU admission in patients receiving early EN is conditionally recommended based on patient-specific needs; (4) limited caloric support should be supplied to prevent overfeeding and related complications, particularly in the early phase of critical illness; (5) higher protein intake is suggested to improve clinical outcomes, such as muscle preservation and overall recovery; (6) additional enteral or parenteral glutamine is conditionally recommended against due to the lack of significant benefit and potential harm; and (7) fish oil-containing lipid emulsions is conditionally recommended due to their potential to enhance clinical outcomes, including reduced infection rates and shorter ICU stays. Conclusion These evidence-based recommendations can improve clinical outcomes and support healthcare providers in making informed decisions about nutritional interventions in the ICU.

Purpose: Nutritional support for adult critically ill patients is essential due to the high risk of malnutrition, which can lead to severe complications. This paper aims to develop evidence-based guidelines to optimize nutritional support in intensive care units (ICUs). Methods: The Grading Recommendations, Assessment, Development and Evaluation process was used to develop and summarize the evidence on which the recommendations were based. Clinical outcomes were assessed for seven key questions. Results: We recommend the following: (1) initiate enteral nutrition (EN) within 48 hours after treatment as it is associated with improved outcomes, including reduced infection rates and shorter ICU stays; (2) early EN is preferred over early parenteral nutrition due to better clinical outcomes; (3) the use of supplementary parenteral nutrition to meet energy targets during the first week of ICU admission in patients receiving early EN is conditionally recommended based on patient-specific needs; (4) limited caloric support should be supplied to prevent overfeeding and related complications, particularly in the early phase of critical illness; (5) higher protein intake is suggested to improve clinical outcomes, such as muscle preservation and overall recovery; (6) additional enteral or parenteral glutamine is conditionally recommended against due to the lack of significant benefit and potential harm; and (7) fish oil-containing lipid emulsions is conditionally recommended due to their potential to enhance clinical outcomes, including reduced infection rates and shorter ICU stays. Conclusion These evidence-based recommendations can improve clinical outcomes and support healthcare providers in making informed decisions about nutritional interventions in the ICU.

Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G＞C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G＞A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.

Purpose: Nutritional support for adult critically ill patients is essential due to the high risk of malnutrition, which can lead to severe complications. This paper aims to develop evidence-based guidelines to optimize nutritional support in intensive care units (ICUs). Methods: The Grading Recommendations, Assessment, Development and Evaluation process was used to develop and summarize the evidence on which the recommendations were based. Clinical outcomes were assessed for seven key questions. Results: We recommend the following: (1) initiate enteral nutrition (EN) within 48 hours after treatment as it is associated with improved outcomes, including reduced infection rates and shorter ICU stays; (2) early EN is preferred over early parenteral nutrition due to better clinical outcomes; (3) the use of supplementary parenteral nutrition to meet energy targets during the first week of ICU admission in patients receiving early EN is conditionally recommended based on patient-specific needs; (4) limited caloric support should be supplied to prevent overfeeding and related complications, particularly in the early phase of critical illness; (5) higher protein intake is suggested to improve clinical outcomes, such as muscle preservation and overall recovery; (6) additional enteral or parenteral glutamine is conditionally recommended against due to the lack of significant benefit and potential harm; and (7) fish oil-containing lipid emulsions is conditionally recommended due to their potential to enhance clinical outcomes, including reduced infection rates and shorter ICU stays. Conclusion These evidence-based recommendations can improve clinical outcomes and support healthcare providers in making informed decisions about nutritional interventions in the ICU.

Purpose: Nutritional support for adult critically ill patients is essential due to the high risk of malnutrition, which can lead to severe complications. This paper aims to develop evidence-based guidelines to optimize nutritional support in intensive care units (ICUs). Methods: The Grading Recommendations, Assessment, Development and Evaluation process was used to develop and summarize the evidence on which the recommendations were based. Clinical outcomes were assessed for seven key questions. Results: We recommend the following: (1) initiate enteral nutrition (EN) within 48 hours after treatment as it is associated with improved outcomes, including reduced infection rates and shorter ICU stays; (2) early EN is preferred over early parenteral nutrition due to better clinical outcomes; (3) the use of supplementary parenteral nutrition to meet energy targets during the first week of ICU admission in patients receiving early EN is conditionally recommended based on patient-specific needs; (4) limited caloric support should be supplied to prevent overfeeding and related complications, particularly in the early phase of critical illness; (5) higher protein intake is suggested to improve clinical outcomes, such as muscle preservation and overall recovery; (6) additional enteral or parenteral glutamine is conditionally recommended against due to the lack of significant benefit and potential harm; and (7) fish oil-containing lipid emulsions is conditionally recommended due to their potential to enhance clinical outcomes, including reduced infection rates and shorter ICU stays. Conclusion These evidence-based recommendations can improve clinical outcomes and support healthcare providers in making informed decisions about nutritional interventions in the ICU.

Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G＞C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G＞A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.

Hair growth cycles are mainly regulated by human dermal papilla cells (hDPCs) and human outer root sheath cells (hORSCs).Protecting hDPCs from excessive oxidative stress and hORSCs from glycogen phosphorylase (PYGL) is crucial to maintaining the hair growth phase, anagen. In this study, we developed a new PYGL inhibitor, hydroxytrimethylpyridinyl methylindolecarboxamide (HTPI) and assessed its potential to prevent hair loss. HTPI reduced oxidative damage, preventing cell death and restored decreased level of anagen marker ALP and its related genes induced by hydrogen peroxide in hDPCs. Moreover, HTPI inhibited glycogen degradation and induced cell survival under glucose starvation in hORSCs. In ex-vivo culture, HTPI significantly enhanced hair growth compared to the control with minoxidil showing comparable results. Overall, these findings suggest that HTPI has significant potential as a therapeutic agent for the prevention and treatment of hair loss.