A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennek...A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.展开更多
Establishment of genetic databases has socio-cultural, ethical and legal implications particularly in developing countries. However, there are no available data in Oman about the community knowledge and understanding ...Establishment of genetic databases has socio-cultural, ethical and legal implications particularly in developing countries. However, there are no available data in Oman about the community knowledge and understanding of genetic database and gene banking. Thus, this study was conducted with the aim of investigating Omani public awareness on socio-cultural, ethical and legal aspects of gene studies （with consideration to regional variations） and to assess the public acceptance of initiating gene banking. This study was conducted using self-completed questionnaires by a sample of adult Omani population invited to participate in the study, from 14 health centers, a school and a university. For illiterate subjects, structured interviews were conducted. There were a total of 1,702 participants with nearly equal numbers of males and females. The mean age of respondents was 31 （＋ 12） years for males and 28 （＋ 10） years for females. In general, 9% of the studied population were illiterate and a total of 29% were preparatory school level and below, classified as the uneducated. While, 60% of the respondents were unemployed. The awareness on the genetic disposition of some common diseases was generally higher than 80% with the highest on sickle cell anemia. Only 17% of the participants had knowledge of genetic databases, 95% of whom were from the educated group. Public opinion on acceptance of gene banking, participation in genetic research and setting protection laws in those aware and non-aware, achieved good scores, indicating public acceptance of the above.展开更多
文摘A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.
文摘Establishment of genetic databases has socio-cultural, ethical and legal implications particularly in developing countries. However, there are no available data in Oman about the community knowledge and understanding of genetic database and gene banking. Thus, this study was conducted with the aim of investigating Omani public awareness on socio-cultural, ethical and legal aspects of gene studies （with consideration to regional variations） and to assess the public acceptance of initiating gene banking. This study was conducted using self-completed questionnaires by a sample of adult Omani population invited to participate in the study, from 14 health centers, a school and a university. For illiterate subjects, structured interviews were conducted. There were a total of 1,702 participants with nearly equal numbers of males and females. The mean age of respondents was 31 （＋ 12） years for males and 28 （＋ 10） years for females. In general, 9% of the studied population were illiterate and a total of 29% were preparatory school level and below, classified as the uneducated. While, 60% of the respondents were unemployed. The awareness on the genetic disposition of some common diseases was generally higher than 80% with the highest on sickle cell anemia. Only 17% of the participants had knowledge of genetic databases, 95% of whom were from the educated group. Public opinion on acceptance of gene banking, participation in genetic research and setting protection laws in those aware and non-aware, achieved good scores, indicating public acceptance of the above.
