上海市兒科醫(yī)學(xué)研究所簡(jiǎn)介
上海市兒科醫(yī)學(xué)研究所成立于1978年10月,，是上海市第一家以出生缺陷早期診斷,、治療和預(yù)防為研究重點(diǎn)，兼具醫(yī)療與教學(xué)的醫(yī)學(xué)研究機(jī)構(gòu)。1983年創(chuàng)辦了國(guó)內(nèi)重要兒科學(xué)術(shù)期刊之一《臨床兒科雜志》,。目前設(shè)有小兒內(nèi)分泌遺傳代謝病,、小兒消化與營(yíng)養(yǎng),、圍產(chǎn)醫(yī)學(xué),、免疫/腫瘤、小兒心血管,、兒童保健等研究室,，擁有生化檢測(cè)、分子診斷,、細(xì)胞遺傳等完善的科研和臨床檢測(cè)平臺(tái),。
40年來(lái)，兒研所瞄準(zhǔn)前沿,、凝練方向,、構(gòu)筑平臺(tái)、吸引人才,，經(jīng)過(guò)幾代兒科所人的辛勤耕耘,、不斷創(chuàng)新，取得了一系列豐碩成果,。在小兒消化與營(yíng)養(yǎng)研究方面,，重點(diǎn)開(kāi)展危重新生兒營(yíng)養(yǎng)支持、小兒腸道衰竭的腸康復(fù)治療,、小兒先天性消化道畸形診治等基礎(chǔ)和臨床研究,。成功研制國(guó)內(nèi)首個(gè)小兒專用型靜脈用氨基酸制劑、在國(guó)際上首次確定危重新生兒營(yíng)養(yǎng)支持的適宜能量需要值,、建立了危重新生兒靜脈營(yíng)養(yǎng)最優(yōu)化輸注途徑,、國(guó)內(nèi)率先建立新生兒短腸綜合征（SBS）腸康復(fù)治療方案、制定我國(guó)首部《中國(guó)新生兒營(yíng)養(yǎng)支持臨床應(yīng)用指南》等,，并榮獲國(guó)家科技進(jìn)步獎(jiǎng)二等獎(jiǎng),。在小兒內(nèi)分泌遺傳代謝研究方面，在國(guó)內(nèi)率先建立了串聯(lián)質(zhì)譜遺傳代謝病檢測(cè)技術(shù),，發(fā)展了一系列生化檢測(cè)和基因突變檢測(cè)技術(shù),，應(yīng)用于臨床診斷和產(chǎn)前診斷，產(chǎn)前診斷的遺傳代謝病種類達(dá)56種；率先開(kāi)展新生兒篩查,，建立了苯丙酮尿癥,、先天性腎上腺皮質(zhì)增生癥、甲基丙二酸血癥等的新生兒遺傳代謝病篩查系統(tǒng),，構(gòu)建了診斷,、治療和推廣為一體的綜合服務(wù)體系，將遺傳病早期篩查和臨床診治前移至新生兒期,，有效推動(dòng)了遺傳代謝病產(chǎn)前診斷的發(fā)展,，并榮獲第十屆宋慶齡兒科醫(yī)學(xué)獎(jiǎng)。
兒研所小兒消化與營(yíng)養(yǎng)研究室2011年獲批建設(shè)上海市小兒消化與營(yíng)養(yǎng)重點(diǎn)實(shí)驗(yàn)室,，小兒內(nèi)分泌遺傳代謝病專業(yè)是國(guó)家“211”工程重點(diǎn)學(xué)科“兒科學(xué)”和上海市教委重點(diǎn)學(xué)科“兒科學(xué)”的重點(diǎn)專業(yè)之一，是上海市教委“遺傳代謝病研究基地”,。近10年來(lái),，兒研所承擔(dān)國(guó)家地方科研項(xiàng)目153項(xiàng)；以第一作者或通訊作者發(fā)表論文472篇,，其中SCI收錄論文170余篇,，影響因子累計(jì)425；獲得科技獎(jiǎng)勵(lì)8項(xiàng),。獲得上海市優(yōu)秀學(xué)科帶頭人,、上海市醫(yī)學(xué)領(lǐng)軍人才、上海市衛(wèi)生系統(tǒng)百人計(jì)劃等25人次,，培養(yǎng)博士后7名,，培養(yǎng)博士碩士研究生200余名。
Shanghai institute for pediatric research
Shanghai institute for pediatric research was established in October 1978, which was the first medical research institution that focuses on the early diagnosis, treatment and prevention of birth defects in Shanghai and combines medicine and teaching. In 1983, Shanghai institute for pediatric research founded the journal of clinical pediatrics, one of the major domestic pediatric journals. At present, it has set up the research institutes for pediatric inherited endocrine and metabolic diseases, pediatric digestion and nutrition, perinatal medicine, immunology/tumor, pediatric cardiovascular diseases, children's health care, etc., with a complete scientific research and clinical testing platform of biochemical detection, molecular diagnosis and cytogenetics.
In the past 40 years, the institute has targeted at the frontiers of biomedical research, focused directions on pediatric diseases, etablished a multidisciplinary platform and attracted a group of clinical and scientific talents. With the efforts of several generations of peditricians and researchers, a series of achievements have been accomplished. In pediatric digestion and nutrition, the focus is on basic and clinical research of critical neonatal nutritional support, intestinal rehabilitation for pediatric intestinal failure, and diagnosis and treatment of congenital gastrointestinal malformations. The institute has successfully developed the first pediatric-specific intravenous amino acid preparation, determined the appropriate energy needs of nutritional support for the critically ill neonates for the first time in the world, established an optimal infusion route of neonatal venous nutrition, and established the first domestic neonatal short bowel syndrome (SBS) intestinal rehabilitation treatment program. The institute drafted the first "Clinical Application Guide of Newborn Nutritional Support" in China, and this work won the National Science and Technology Progress Award. In the area of pediatric endocrinology and inherited metabolism disorders, the institute established the first tandem mass spectrometry platform for detection of genetic metabolic disorders in China, developed a series of biochemical and genetic technology for clinical diagnosis of genetic metabolic diseases, and took the lead in newborn screening. Currently a screening system for neonatal genetic metabolic diseases such as phenylketonuria, congenital adrenal hyperplasia, and methylmalonic acidemia has been established. This integrated service system included early screening and clinical diagnosis and treatment of genetic diseases at the neonatal period, and effectively promoted the development of prenatal diagnosis of genetic metabolic diseases. This work won the 10th Soong Ching Ling Pediatric Medicine Award.
The Pediatric Gastroenterology and Nutrition Laboratory of Shanghai institute for pediatric research was approved to establish as Shanghai Key Laboratory in 2011. Moreover, the pediatric inherited endocrine and metabolic diseases is one of the key disciplines of the national "211" project and the Shanghai Education Commission's key discipline. It is also the "Inherited Metabolic Disease Research Base" of the Shanghai Municipal Education Commission. In recent 10 years, the Institute has undertaken 153 national research projects; published 472 papers by the first author or correspondent author, including more than 170 papers in SCI with a total impact factor of 425; and 8 science and technology awards. A total of 25 staffs obtained Shanghai Outstanding Academic Leaders, Shanghai Leading Medical talents and Hundred People’s Plan of Shanghai health system. In addition, Shanghai institute for pediatric research has trained 7 postdoctoral fellows and more than 200 doctoral and postgraduate students.
