Saito Yu, Matsumura Kenta, Kageyama Misao, Kato Yuichi, Ohta Eiji, Sumi Kiyoaki, Futatani Takeshi, Yoshida Taketoshi
Division of Neonatology, Maternal and Perinatal Center, Toyama University Hospital, Toyama, Japan.
Toyama Regional Center for Japan Environment and Children's Study, University of Toyama, Toyama, Japan.
BMC Res Notes. 2020 Jul 23;13(1):350. doi: 10.1186/s13104-020-05186-z.
Patients with congenital myotonic dystrophy (CDM) tend to be born preterm. Although the CDM severity generally depends on the CTG repeat length, prematurity may also affect the prognosis in patients with CDM. Given that preterm birth is expected to increase the risk of CDM in newborns, we investigated the outcomes of newborns with CDM according to gestational age to assess prematurity and the CTG repeat length for predicting prognosis.
We assessed the outcomes of 54 infants with CDM using data collected from our hospitals and previously published studies. The patients were divided into mild and severe groups based on clinical outcomes. Logistic regression analysis was performed to estimate odds ratios (ORs) for CDM prognosis according to gestational age and the CTG repeat length and to construct a predictive model. Logistic regression analysis showed both the CTG repeat and gestational age were significantly associated with severe outcomes in patients with CDM (OR: 32.27, 95% CI 3.45-300.7; p = 0.002 and OR: 0.73, 95% CI 0.58-0.93; p = 0.0094, respectively). This predictive model for CDM prognosis exhibited good sensitivity (63%) and specificity (86%). Both prematurity and the CTG repeat length were significantly associated with the CDM severity.
先天性肌强直性营养不良（CDM）患者往往早产。虽然CDM的严重程度通常取决于CTG重复序列长度，但早产也可能影响CDM患者的预后。鉴于预计早产会增加新生儿患CDM的风险，我们根据胎龄调查了CDM新生儿的结局，以评估早产情况以及CTG重复序列长度对预后的预测作用。
我们使用从我院收集的数据以及先前发表的研究，评估了54例CDM婴儿的结局。根据临床结局将患者分为轻度和重度组。进行逻辑回归分析，以估计根据胎龄和CTG重复序列长度得出的CDM预后优势比（OR），并构建预测模型。逻辑回归分析显示，CTG重复序列和胎龄均与CDM患者的严重结局显著相关（OR分别为：32.27，95%可信区间3.45 - 300.7；p = 0.002和OR：0.73，95%可信区间0.58 - 0.93；p = 0.0094）。这个CDM预后预测模型表现出良好的敏感性（63%）和特异性（86%）。早产和CTG重复序列长度均与CDM严重程度显著相关。
