• Annals of Pediatric Endocrinology and Metabolism
• /
• 제23권4호
• /
• pp.176-181
• /
• 2018

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. One year of GH therapy resulted in almost doubling of GV compared with baseline; afterwards, the increase in GV gradually decreased in the following years, showing that the effect of GH therapy wanes over time. After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. Early initiation, long duration of GH therapy, and higher height SDS at the onset of puberty were associated with improved final height, whereas gender, dosage of GH, and the clinical severity did not show significant association with final height. Studies have reported no significant adverse events of GH therapy regarding progression of hypertrophic cardiomyopathy, alteration of metabolism, and tumor development. Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy.

• Clinical and Experimental Pediatrics
• /
• 제62권11호
• /
• pp.412-413
• /
• 2019

• 대한장애인치과학회지
• /
• 제7권2호
• /
• pp.123-126
• /
• 2011

본 증례는 누난 증후군으로 진단 받은 환아에 대한 내용으로, 성장 지연, 작은 키, 좁고 높은 악궁 등의 특징적인 소견을 보였다. 체중은 8.8kg이었으며 신장은 100cm으로 2세 아이들의 성장 양상과 비슷한 수준을 나타내고 있었다. 이소맹출 되고 있는 매복 상악 측절치에 의해 상악 중절치의 맹출이 방해 받고 있었으며, 다수의 치아우식증이 관찰되었다. 이에 상악궁의 심한 총생이 예상되며, 측절치 치배로 인해 영구 상악 중절치 발육에 영향을 줄 것을 고려하여 전신마취 하에 측절치의 발거 및 치아우식증의 치료를 시행하였다. 주기적인 관찰기간 동안 영구 중절치의 발육에 큰 문제가 나타나지 않았으며, 정상적인 성장이 이루어지는 것을 관찰할 수 있었다.

• Clinical and Experimental Pediatrics
• /
• 제62권7호
• /
• pp.274-280
• /
• 2019

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children's Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. Results: The mean chronological age at the start of GH treatment was $5.85{\pm}2.67years$. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group. Conclusion: The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.

• Journal of Dental Anesthesia and Pain Medicine
• /
• 제23권2호
• /
• pp.111-116
• /
• 2023

We provided general anesthesia management to a patient with advanced atrioventricular block, which was discovered in the remote period after open-heart surgery. A 21-year-old man with Noonan syndrome was scheduled to undergo excision of a median intramandibular tumor. At 2 months of age, the patient underwent endocardial repair for congenital heart disease. During our preoperative examination, an atrioventricular block was detected, which had not been previously noted. Emergency drugs were administered, and a transcutaneous pacemaker was placed. During anesthesia induction, mask ventilation was easy, and intubation was performed smoothly using a video laryngoscope. The transcutaneous pacemaker was activated in demand mode at a pacing rate of 50 cycles/min approximately throughout the anesthesia time, and the hemodynamic status remained stable. The effect of intraoperatively administered atropine was brief, lasting only a few seconds. Although body movements due to thoracoabdominal muscle spasm were observed during pacemaker activation, they did not interfere with surgery. In postoperative patients with congenital heart disease, an atrioventricular block may be identified in the remote period, and preoperative evaluation should be based on this possibility. In addition, during anesthesia management, it is important to prepare multiple measures to maintain hemodynamic status.

• The Korean Journal of Physiology and Pharmacology
• /
• 제24권2호
• /
• pp.129-135
• /
• 2020

SHP2 is an unusual protein phosphatase that functions as an activator for several signaling pathways, including the RAS pathway, while most other phosphatases suppress their downstream signaling cascades. The physiological and pathophysiological roles of SHP2 have been extensively studied in the field of cancer research. Mutations in the PTPN11 gene which encodes SHP2 are also highly associated with developmental disorders, such as Noonan syndrome (NS), and cognitive deficits including learning disabilities are common among NS patients. However, the molecular and cellular mechanism by which SHP2 is involved in cognitive functions is not well understood. Recent studies using SHP2 mutant mice or pharmacological inhibitors have shown that SHP2 plays critical role in learning and memory and synaptic plasticity. Here, we review the recent studies demonstrating that SHP2 is involved in synaptic plasticity, and learning and memory, by the regulation of the expression and/or function of glutamate receptors. We suggest that each cell type may have distinct paths connecting the dots between SHP2 and glutamate receptors, and these paths may also change with aging.

• 대한치과마취과학회지
• /
• 제5권1호
• /
• pp.22-24
• /
• 2005

General anesthesia is often required for mentally retarded children undergoing extensive dental treatment. We experienced a case of dental treatment under general anesthesia in a 14-year-old boy with mental retardation. He was treated on an outpatient basis. He was diagnosed of Noonan syndrome and received heart surgery when he was six years old. Induction using thiopental and vecuronium was uneventful and nasotracheal intubation were carried out. General anesthesia was maintained with sevoflurane for 2.5 hours. After monitoring the patient for 2 hours and confirming his recovery, he was discharged from the day care unit. In summary, we report this successful anesthetic management of a mentally retarded child during dental treatment in as an out-patient.