Studies of Pediatrics patients with genetic and metabolic disorders

儿童代谢性及其他遗传性疾病的研究 人员：雷加达、雷纳特 年报 儿童代谢性及其他遗传性疾病的研究 根据这一方案，我们为患有各种罕见遗传病的患者提供护理。此外，我们还在国家儿童健康与人类发展研究所(NICHD)和美国国立卫生研究院(NIH)的其他研究所补充和提供临床遗传学、畸形学和代谢遗传学方面的培训，并带头开发关于特定遗传病诊断和护理的特定方面的新研究方案。对具有广泛代谢和遗传条件的患者进行评估，向患者及其家人提供遗传咨询服务，以评估风险，并提供关于预防措施和检测选择的信息。我们研究的疾病包括儿童和/或成人发病的染色体和孟德尔疾病、先天性异常和/或出生缺陷、畸形综合征、家族性癌症综合征、多因素障碍和代谢异常。如果不符合另一项NICHD研究方案(针对某种疾病或治疗)，可在本方案的支持下对有遗传/代谢相关疾病的患者进行评估，以提高参与NICHD临床研究和培训计划的医生的临床技能，并为新的临床研究计划提供刺激。该议定书的总体目的是通过扩大在我们的诊所和病房可以看到的疾病的范围来支持我们的研究所的培训和研究任务。我们对IRTA、本科生和研究生、医学生、住院医生和研究员进行了有关遗传疾病患者及其家人的护理和管理方面的培训。 2009-2010年是该议定书的第9个年头。这是在代谢性和遗传性疾病领域对研究员、住院医生和学生进行培训的一个成功途径。这是我们第七年让乔治敦大学医院的儿科住院医生参加我们的治疗方案。从2003年7月开始，我们的诊所每个月都会轮换。此外，从2007年开始，我们开始轮换国立卫生研究院的所有IRTA(每周3次)。今年，我们开始与遗传学研究员和来自NHGRI的遗传咨询学生进行新的轮换。 患者总数(截至目前，门诊+住院患者)：674 诊断信息： 新病人的诊断/问题# --门克斯93 -发展延迟/FTT 119 -家族病史遗传/代谢状况117 -胎儿死亡/产前并发症5 -乳腺癌54 -乳腺癌家族史26 -线粒体增多症/肌肉疾病22 -变形特征32 -未能蓬勃发展27 -新陈代谢障碍23 -神经纤维瘤病/错构瘤病13 --染色体异常13 -身材矮小/侏儒症31 -Coloboma 2 -小头畸形/巨型/肩周炎8 -唇腭裂4 -GIST 2 -高度灵活性7 -Klinefelter 6 -Caf Au Lait Points 8 -唐氏综合症4 -癫痫5 -MCAD 9 -运动神经病2 -EDS/Marfan 5 --麦库恩·奥尔布赖特1 -CALS 1 -其他231

Studies of Pediatric Patients with Metabolic and other Genetic Disorders Personnel: Raygada, Rennert Annual Report Studies of Pediatric Patients with Metabolic and other Genetic Disorders Under this protocol we provide care for patients with a variety of rare genetic disorders. In addition, we supplement and offer an opportunity for training in clinical genetics, dysmorphology and metabolic genetics in the National Institute of Child Health and Human Development (NICHD) and other Institutes of the National Institutes of Health (NIH), and spearhead the development of new research protocols on particular aspects of diagnosis and care for specific genetic diseases. Evaluations of patients with a broad spectrum of metabolic and genetic conditions are performed, genetic counseling services are offered to patients and their families to assess risk, and give information on preventive measures, and testing options. Disorders that we studied include chromosomal and Mendelian disorders of childhood and/or adult onset, congenital anomalies and/or birth defects, dysmorphic syndromes, familial cancer syndromes, multifactorial disorders, and metabolic abnormalities. If not eligible for another NICHD research protocol (specific for a disease or a treatment), patients with genetic/metabolic-related conditions may be evaluated under the auspices of this protocol to advance the clinical skills of physicians participating in NICHD clinical research and training programs, and to provide stimuli for new clinical research initiatives. The overall purpose of this protocol is to support our Institutes training and research missions by expanding the spectrum of diseases that can be seen in our clinics and wards. We trained IRTAs, undergraduate and graduate students, medical students, residents, and fellows in the care and management of patients with genetic conditions and their families. The year 2009-2010 was the 9th year of the protocol. It has been a successful avenue for the training of fellows, residents and students in the area of metabolic and genetic diseases. This is the 7th year we have pediatric residents from Georgetown University Hospital in our protocol. They rotate in our clinic every month starting in July, 2003. In addition, in 2007 we began the rotation of all IRTAs in NIH (3 every week). This year we begin a new rotation with the Genetics Fellows and the Genetic Counseling students from NHGRI. TOTAL NUMBER OF PATIENTS (OUT + INPATIENTS UP To now): 674 Diagnosis information: Diagnosis/Problem # of new patients - Menkes 93 - Developmental delay/FTT 119 - Family history genetic/metabolic condition 117 - Fetal death/prenatal complications 5 - Breast cancer 54 - Family history of breast cancer 26 - mitochodria/muscle disease 22 - Dysmorphic features 32 - Failure to thrive 27 - Metabolic disorder 23 - Neurofibromatosis/Harmatoses 13 - Chromosomal abnormalities 13 - Short stature/dwarfism 31 - Colobomas 2 - Microcephaly/macro/scapho 8 - Cleft Lip/Palate 4 - GIST 2 - Hyperflexibility 7 - Klinefelter 6 - Caf Au Lait Spots 8 - Down Syndrome 4 - Seizure disorder 5 - MCAD 9 - Motor neuropathies 2 - EDS/Marfan 5 - McCune Albright 1 - CALS 1 - Others 231