Title: Integrating Consistent Individualized Carbohydrate-Controlled Anti- Inflammatory Nutritional Plan (C-ICAN) in the Management of Prader-Willi Syndrome: A Case Report. Prader–Willi syndrome (PWS) is a rare genet...Title: Integrating Consistent Individualized Carbohydrate-Controlled Anti- Inflammatory Nutritional Plan (C-ICAN) in the Management of Prader-Willi Syndrome: A Case Report. Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. Patients with this disease present unique challenges in management, particularly regarding obesity and nutritional regulation as the disease symptoms change depending on the age of the patient and the phase of the disease. These challenges pose critical stressors to caregivers and their families. We present a case report of a 5-year-old Caucasian male diagnosed with PWS, exhibiting failure to thrive and uncontrolled weight gain. His caregiver was his elderly grandmother who, by her own admission, was ill-equipped to deal with the patient’s physical symptoms and his behavior in response to dietary restrictions. Through a multidisciplinary approach involving medical nutrition therapy (MNT) involving the implementation of a Consistent Individualized Carbohydrate-Controlled Anti-Inflammatory Nutritional plan (C-ICAN), growth hormone supplementation, and behavioral interventions patient markedly improved physically and emotionally.展开更多
Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13...Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.展开更多
文摘Title: Integrating Consistent Individualized Carbohydrate-Controlled Anti- Inflammatory Nutritional Plan (C-ICAN) in the Management of Prader-Willi Syndrome: A Case Report. Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. Patients with this disease present unique challenges in management, particularly regarding obesity and nutritional regulation as the disease symptoms change depending on the age of the patient and the phase of the disease. These challenges pose critical stressors to caregivers and their families. We present a case report of a 5-year-old Caucasian male diagnosed with PWS, exhibiting failure to thrive and uncontrolled weight gain. His caregiver was his elderly grandmother who, by her own admission, was ill-equipped to deal with the patient’s physical symptoms and his behavior in response to dietary restrictions. Through a multidisciplinary approach involving medical nutrition therapy (MNT) involving the implementation of a Consistent Individualized Carbohydrate-Controlled Anti-Inflammatory Nutritional plan (C-ICAN), growth hormone supplementation, and behavioral interventions patient markedly improved physically and emotionally.
文摘Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.
