Background Noonan-like syndrome with loose anagen hair-a rare autosomal dominant disease with very clinical heterogeneity, is difficult to make clinical diagnosis in the earlier period. We identified the cause of disease with severely short stature by WES on three pediatric cases. Meanwhile, we summarized the clinical manifestations of these three patients and reviewed the literature of the syndrome. Case presentations We finally confirmed three cases of Noonan-like syndrome with loose anagen hair (NS / LAH) (OMIM # 607721) and hotspot mutation in SHOC2 gene (OMIM# 602775), which both involved in the RAS-MAPK signaling pathway. The mutation located in chr10: 112724120, NM_007373.3, c.4A>G (p.Ser2Gly) is de-novo heterozygous in all patients. NS / LAH show some core clinical symptoms, such as craniofacial anomalies, short stature, weight loss, abnormal hair, growth retardation and heterogeneous manifestations (macrocephaly, GH deficiency, congenital heart disease, skin pigmentation, mental retardation, etc.). In the study, we have also proved that it is safe and feasible to apply rhGH treatent on Noonan-like syndrome with loose anagen hair. Conclusions Through our effort, we have identified a rare disease in China. The molecular characteristics, clinical manifestations, and therapeutic measure were summarized so that it can help to clinicians a better understanding of the disease and offer patients effective and timely assistance.
Background: Palliative thoracic radiotherapy (RT) can improve local control and survival in patients with unresectable locally or systemically advanced non-small cell lung cancer (NSCLC), but the optimal RT dose has not been well-defined. We investigated the survival outcomes of patients with NSCLC who underwent hypofractionated radiotherapy (HFRT).Methods: We retrospectively investigated survival and adverse effects among 74 patients with locally or systemically advanced NSCLC who received HFRT (45 Gy/15 fractions) at our institution.Results: The median overall survival (OS) was 18.7 months, with 1- and 2-year OS rates of 65.9% and 33.9%, respectively. The median local progression-free survival (LPFS) was 7.2 months, with 1- and 2-year LPFS rates of 27.9% and 9.4%, respectively. Sixteen patients (21.6%) developed grade ≤2 pneumonitis and 14 (19%) developed grade ≤2 esophagitis; no grades ≥3 pneumonitis or esophagitis occurred.Conclusions: HFRT is safe, tolerable, and effective for patients with unresectable locally or systemically advanced NSCLC exhibiting poor prognostic factors.
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