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
Objective Prader-Willi Sydrome （PWS） is a human disorder related to genomic imprinting defect on 15ql 1-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, ...Objective Prader-Willi Sydrome （PWS） is a human disorder related to genomic imprinting defect on 15ql 1-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS. Methods Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH. Results With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, Cl2orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A. Conclusions Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.展开更多
Relentless pursuit of food is a major characteristic of Prader-Willi Syndrome (PWS). We observed voluntary fasting among PWS individuals during a religious fast. Understanding the mechanisms involved in successful fas...Relentless pursuit of food is a major characteristic of Prader-Willi Syndrome (PWS). We observed voluntary fasting among PWS individuals during a religious fast. Understanding the mechanisms involved in successful fasting could be an important contribution in developing more effective treatment of this syndrome. We conducted a prospective study to assess whether genotype, motivational attitudes (e.g. religiosity) and control patterns (e.g. different eating habits) would correlate with ability to fast. Among all individuals with PWS in Israel, 32 met inclusion criteria. Prior to the fast, each participant and parents/caregivers were interviewed for demographic, medical and behavioral data and completed questionnaires assessing motivational and control factors. 22 participants completed the fast. This ability was not accounted for by religiosity, demographic, medical variables or genetic subtype. This prospective study documents that in spite of extreme hyperphagia, adolescents and adults with PWS can voluntarily abstain from food for 25 hours;our findings suggest that they are able to activate mechanisms which improve their control of eating for a longer period than expected. The observation that the degree of religiosity did not impact on the ability to fast suggests that these mechanisms may be applicable to a wider range of circumstances and populations. The ability for self-control under special circumstances deserves further study;it may be relevant to other types of severe obesity and possibly lead to improved methods of behavioral modification.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.
基金supported by grants from National 973 Program(2006CB503901)Shanghai Key Laboratory of Diabetes Mellitus(08DZ2230200)+1 种基金Major Program of Shanghai Municipality for Basic Research(08dj 1400601)Program for Outstanding Medical Academic Leader in Shanghai (LJ06010).
文摘Objective Prader-Willi Sydrome （PWS） is a human disorder related to genomic imprinting defect on 15ql 1-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS. Methods Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH. Results With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, Cl2orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A. Conclusions Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.
文摘Relentless pursuit of food is a major characteristic of Prader-Willi Syndrome (PWS). We observed voluntary fasting among PWS individuals during a religious fast. Understanding the mechanisms involved in successful fasting could be an important contribution in developing more effective treatment of this syndrome. We conducted a prospective study to assess whether genotype, motivational attitudes (e.g. religiosity) and control patterns (e.g. different eating habits) would correlate with ability to fast. Among all individuals with PWS in Israel, 32 met inclusion criteria. Prior to the fast, each participant and parents/caregivers were interviewed for demographic, medical and behavioral data and completed questionnaires assessing motivational and control factors. 22 participants completed the fast. This ability was not accounted for by religiosity, demographic, medical variables or genetic subtype. This prospective study documents that in spite of extreme hyperphagia, adolescents and adults with PWS can voluntarily abstain from food for 25 hours;our findings suggest that they are able to activate mechanisms which improve their control of eating for a longer period than expected. The observation that the degree of religiosity did not impact on the ability to fast suggests that these mechanisms may be applicable to a wider range of circumstances and populations. The ability for self-control under special circumstances deserves further study;it may be relevant to other types of severe obesity and possibly lead to improved methods of behavioral modification.
