Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

Neural Tube Defect and Folic Acid

نقص لوله عصبی یکی از ناهنجاریهای مادرزادی مهم و شایع می باشد که شیوع آن بیش از ۵/ ۴ در ۱۰۰۰ تولد زنده است. اتیولوژی و پاتوژنز بیماری هنوز ناشناخته است. مطالعات اخیر بر روی حیوانات نشان می دهد که این ناهنجاری ممکن است، ناشی از متابولیسم غیر طبیعی هموسیستئین باشد. در مطالعات اخیر مشخص شده است که پیشگیری از نقص لوله عصبی (NTD) بوسیله اسیدفولیک مؤثر می باشد.

Prenatal Screening for Neural Tube Defect

Neural tube defect (NTD) is a serious congenital defect, but current methods for identifying NTD are limited. We used proteomic analysis of maternal serum to identify NTD-specific proteins whose levels differed between women with NTD fetuses (n = 50) and those with healthy fetuses (n = 40). Three NTD-specific protein peaks (8,130.6, 15,941.7, and 3,960.3 m/z) were identified using MALDI-TOF-mas...

Abortion in neural tube defect fraternities.

Fraternities that include a fetus or person with a neural tube defect are remarkable for a high rate of recurrence of this type of malformation, about seven to eight times the overall rate (Record and McKeown, 1950; MacMahon, Pugh, and Ingalls, 1953; Carter, David, and Laurence,1968) and a higher than average rate of abortions (Murphy, 1940; Record and McKeown, 1950). Murphy (1940) found that a...

Split cord malformation associated with spinal open neural tube defect

OBJECTIVE To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment. METHODS A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi...

caudal anesthesia for open bladder surgery in high-risk adolescent with scoliosis and neural tube defect