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Osteocalcin: A potential marker to identify and monitor girls with rapidly progressive central precocious puberty 骨钙素:识别和监测快速进展的中枢性性早熟女孩的潜在标志物。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-30 DOI: 10.1111/jpc.16632
Wei Qin, Yanfei Chen, Suren R Sooranna, Dan Zeng, Tao Xie, Qi Meng, Dan Lan

Aim

To evaluate the suitability of serum osteocalcin (OC) as a marker to distinguish between rapidly and non-rapidly progressive central precocious puberty (RP-CPP and NRP-CPP), as well as its potential to assess growth rates following treatment with gonadotropin-releasing hormone agonist (GnRHa).

Methods

Serum levels of OC were measured using enzyme-linked immunosorbent assays in girls diagnosed with either RP-CPP or NRP-CPP as well as in normal control subjects. Receiver operating characteristic (ROC) curve analysis was performed to determine the cut-off value for OC. Multivariate linear regression analysis was used to analyse the main influencing factors associated with OC.

Results

Serum OC levels were higher in the CPP girls when compared to normal controls (110.76 ± 43.69 vs 55.97 ± 20.96 ng/mL, P < 0.001). The level in the RP-CPP group was higher than the NRP-CPP group (153.28 ± 33.89 vs 88.33 ± 29.26 ng/mL, P < 0.001). The cut-off value of OC levels for distinguishing between RP-CPP and NRP-CPP was 107.05 ng/mL, the sensitivity was 94.7% and the specificity was 77.8%, which was superior to using the basal luteinising hormone (B-LH) levels, and the area under ROC curve (AUC) were 0.933 versus 0.695, respectively. Following 1–2 years of treatment with GnRHa for girls with CPP, both OC levels and the growth rates decreased to pre-pubertal values. B-LH levels, bone age and body weight were also significant factors, which affected OC levels.

Conclusions

Serum OC levels may be a useful marker for distinguishing RP-CPP from NRP-CPP. In addition, it was also found to be a useful predictor for growth rate during GnRHa treatment.

目的:评估血清骨钙素(OC)作为区分速发型和非速发型中枢性性早熟(RP-CPP和NRP-CPP)的标志物的适用性,以及其评估促性腺激素释放激素激动剂(GnRHa)治疗后生长速度的潜力:方法:使用酶联免疫吸附测定法测量被诊断为 RP-CPP 或 NRP-CPP 的女孩以及正常对照组的血清 OC 水平。为确定 OC 的临界值,进行了接收者操作特征(ROC)曲线分析。多变量线性回归分析用于分析与 OC 相关的主要影响因素:结果:与正常对照组相比,CPP 女孩的血清 OC 含量更高(110.76 ± 43.69 vs 55.97 ± 20.96 ng/mL,P 结论:血清 OC 含量可作为一个重要的参考指标:血清 OC 水平可能是区分 RP-CPP 和 NRP-CPP 的有用标志物。此外,在 GnRHa 治疗期间,它还是预测生长速度的有效指标。
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引用次数: 0
Evaluation of gastroschisis feeding protocol: A retrospective cohort study 评估胃裂喂养方案:回顾性队列研究
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-29 DOI: 10.1111/jpc.16657
Jeewan Jyoti, Kristen James-Nunez, Kaye Spence, Brownyn Parkinson, Gordon Thomas, Amit Trivedi

Aim

The primary objective of this study is to determine the impact of a standardised feeding protocol for infants with gastroschisis on early enteral feeds, suck feeds, management of gastric residuals and breastfeeding at discharge. Secondary objectives were evaluation of growth, length of stay in neonatal intensive care unit (NICU), the duration of total parental nutrition (TPN), blood-culture confirmed sepsis and serum bilirubin level (SBR).

Methods

This single-centre retrospective quality improvement project included infants admitted to a quaternary care NICU for management of gastroschisis from 2010 to 2021. The Gastroschisis feeding protocol, a standardised pathway for managing the feeding of infants with gastroschisis, was implemented in this NICU in 2016. The outcomes of infants in the pre-feeding protocol and post-feeding protocol groups were compared.

Results

Of the 100 infants included in the study, 49 were in the post-feeding protocol group. The baseline characteristics of the study population did not differ statistically in both groups. In post-feeding protocol group, there was significant reduction in the time to the first enteral feed (P value <0.0001) and first suck feed (P value = 0.002). The median length of stay in the post-feeding protocol group was significantly lower by 11 days (P value = 0.001). Duration of TPN was 241 h higher in the pre-feeding protocol group (P value 0.0007).

Conclusions

Implementation of a feeding protocol in infants with gastroschisis led to earlier initiation of enteral feeds and suck feeds. There is a likelihood of reduction in the use of TPN and duration of admission in NICU.

目的:本研究的主要目的是确定标准化喂养方案对胃裂婴儿早期肠内喂养、吸吮喂养、胃残余物管理和出院时母乳喂养的影响。次要目标是评估生长情况、新生儿重症监护室(NICU)住院时间、全母乳喂养(TPN)持续时间、血液培养证实的败血症和血清胆红素水平(SBR):该单中心回顾性质量改进项目包括2010年至2021年期间入住四级护理新生儿重症监护室接受胃裂治疗的婴儿。2016年,该新生儿重症监护室实施了胃螺裂喂养方案,这是管理胃螺裂婴儿喂养的标准化路径。我们比较了喂养前和喂养后两组婴儿的结果:在纳入研究的 100 名婴儿中,49 名属于喂养方案实施后组。两组研究对象的基线特征无统计学差异。后喂养方案组中,首次肠内喂养的时间明显缩短(P 值):对患有胃裂的婴儿实施喂养方案后,可以更早地开始肠内喂养和吸吮喂养。使用 TPN 和入住新生儿重症监护室的时间有可能缩短。
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引用次数: 0
Early neurodevelopmental outcomes of preterm infants with intraventricular haemorrhage and periventricular leukomalacia 患有脑室内出血和脑室周围白质异常的早产儿的早期神经发育结果。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-26 DOI: 10.1111/jpc.16654
Nicole SC Ng, Abdul Razak, Preethi Chandrasekharan, Glenda McLean, Vathana Sackett, Lindsay Zhou, Pramod Pharande, Atul Malhotra

Aim

Intraventricular haemorrhage (IVH) and periventricular leukomalacia (PVL) in preterm infants are associated with an increased risk of long-term neurodevelopmental impairments (NDI) and cerebral palsy (CP). However, little is known about their impact on early neurodevelopmental outcomes despite increasing evidence highlighting the feasibility and importance of early NDI/CP diagnosis. We aimed to determine the early neurodevelopmental outcomes of preterm infants with IVH and PVL.

Methods

This was a retrospective single-centre cohort study of preterm infants born at <29 weeks gestation or <1000 g birth weight who attended an Early Neurodevelopment Clinic at 3 to 4 months of corrected age. Primary outcomes of early NDI and CP/high-risk CP diagnoses based on Prechtl's General Movements Assessment and the Hammersmith Infant Neurological Examination were compared between infants without IVH and infants with mild IVH (grades I-II), severe IVH (grades III-IV), and severe brain injury (SBI; severe IVH or cystic PVL).

Results

Of 313 infants, 52.1% (n = 163), 41.2% (n = 129), 6.7% (n = 21) and 8.6% (n = 27) had no IVH, mild IVH, severe IVH and SBI, respectively. The adjusted odds of early CP/high-risk CP diagnosis were significantly higher in infants with severe IVH (aOR 6.07, 95% CI 1.50–24.50) and SBI (aOR 15.28, 95% CI 3.70–63), but not in those with mild IVH (aOR 1.24, 95% CI 0.49–3.10). However, the adjusted odds of any early NDI were similar across groups.

Conclusion

Preterm infants with severe IVH and SBI are at increased risk of early CP/high-risk of CP diagnosis at 3 to 4 months of corrected age.

目的:早产儿脑室内出血(IVH)和脑室周围白质异常(PVL)与长期神经发育障碍(NDI)和脑瘫(CP)的风险增加有关。然而,尽管越来越多的证据强调了早期 NDI/CP 诊断的可行性和重要性,但人们对它们对早期神经发育结果的影响却知之甚少。我们旨在确定 IVH 和 PVL 早产儿的早期神经发育结局:方法:这是一项针对早产儿的回顾性单中心队列研究:在313名婴儿中,52.1%(n = 163)、41.2%(n = 129)、6.7%(n = 21)和8.6%(n = 27)的婴儿无IVH、轻度IVH、重度IVH和SBI。在重度 IVH(aOR 6.07,95% CI 1.50-24.50)和 SBI(aOR 15.28,95% CI 3.70-63)的婴儿中,早期诊断出 CP/高危 CP 的调整后几率明显较高,但在轻度 IVH 的婴儿中却不明显(aOR 1.24,95% CI 0.49-3.10)。然而,各组婴儿发生任何早期 NDI 的调整后几率相似:结论:患有重度IVH和SBI的早产儿在3-4个月矫正年龄时被诊断为早期CP/高危CP的风险增加。
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引用次数: 0
The Gardener 园丁
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-21 DOI: 10.1111/jpc.16653
Mick O'Keeffe
<p>Hi Mum, Hi Dad. Hello Dr. Mick.</p><p>I can see you all there at the clinic.</p><p>I'm pretty young.</p><p>Mum and Dad, you seem a bit sad. You're worried about me, aren't you?</p><p>I am a long way behind the other kindergarten kids.</p><p>You aren't too sure what lies ahead for me.</p><p>Hang on, sorry, I think I am being rude. I can be like that sometimes, without meaning to.</p><p>I should introduce myself, that's right, I remember now.</p><p>It's Cooper speaking. Future Cooper, that is.</p><p>I have news.</p><p>Would you believe me if I tell you that things work out brilliantly?</p><p>Mum and Dad, you will push yourself to do things for me that you can't imagine yet.</p><p>We practice a lot of things together when I'm little. Some nice people give you tips on what to do. I learn to talk, write my name, look after myself.</p><p>You will find a school that really wants me there.</p><p>Mrs. B, she is a great teacher, you are going to love her. The whole time I am at school, she makes sure I am going well.</p><p>Jimmy, the school's gardener, will let me help him out. He gives me my own garden, teaches me how to look after it.</p><p>I will make the front page of the school newsletter one day. The headline will say “Cooper's Green Thumb.” Can you see me there in the picture? Leaning on my garden fork, looking at the plants I've grown.</p><p>I learn to swim – well! You will be so proud of me when I win races at the school carnival. I still do lots of exercise, it makes me feel good.</p><p>Dr. Mick….what car do you drive? Ha! A red VE Holden Commodore, of course I remember! Get ready, I am going to ask you this question every time we met. What can I say, I just love cars.</p><p>Speaking of cars, how about this? I will learn to drive in an old Toyota on my uncle and aunt's farm. This all happens when I am still at school. Relax, it's just around the paddocks, it's fine! I still spend a lot of time down there. I love helping out and learning how to do farm jobs.</p><p>Right now, I am saving up for my own ute. A Volkswagen Amorak twin cab to be exact. I've always wanted one. I'll keep reminding you about that too, Dr. Mick!</p><p>Mum and Dad, can you see me as a teenager?</p><p>At the age of 13, I start putting out our neighbour's bins, just to be helpful.</p><p>And then another neighbour. And another….</p><p>Everyone seems keen for a chat on bin day. I am very reliable they all say. I even earn money for doing it.</p><p>You know the family in our street with the big yard? One day they see me mowing our lawn. (Did I mention I am great at this?). They ask if I can mow theirs as well. I get paid for this, too!</p><p>And then another neighbour….</p><p>Oh wait, here's my favourite bit. I have my own business now!</p><p>Lawns and gardens, that's my thing. I am so happy when I am outdoors.</p><p>Mum and Dad, you help me set it all up. We find some courses to take, so I can learn more skills. Dad, you are driving me to the jobs at the moment. But soon I'll
妈妈好,爸爸好你好,米克医生!我在诊所里看到你们了,我还很小。你们很担心我,是不是?我比其他幼儿园的孩子落后很多,你们也不太确定我的未来。我应该自我介绍一下,对了,我想起来了,我是库珀,也就是未来的库珀。爸爸妈妈,你们会逼着自己为我做一些你们还无法想象的事情。一些好心人会给你一些小建议。我学会了说话、写自己的名字、照顾自己。你会找到一所真正想要我去的学校。B老师,她是个很棒的老师,你会爱上她的。吉米是学校的园丁,他会让我帮他的忙。有一天,我会登上学校通讯的头版头条。标题会写 "库珀的绿色拇指"你能在照片里看到我吗?我学会了游泳--游得很好!当我在学校嘉年华上赢得比赛时,你一定会为我感到骄傲。我还在做很多运动,这让我感觉很好。米克博士....,你开什么车?哈!一辆红色的 VE Holden Commodore,我当然记得!准备好,我们每次见面我都会问你这个问题。怎么说呢,我就是喜欢车。说到车,这个怎么样?我会在叔叔和婶婶的农场里,开着一辆老式丰田汽车学开车。这一切都发生在我还在上学的时候。别紧张,只是在围场周围转转,没事的!我还是经常去那里。我喜欢帮忙,学习如何干农活。现在,我正在攒钱买自己的越野车。确切地说,是一辆大众阿莫拉克双排座敞篷车。我一直想要一辆。我也会一直提醒你的,米克博士!爸爸妈妈,你们能看到我十几岁的样子吗?13 岁时,我开始帮邻居倒垃圾桶,只是为了乐于助人。然后是另一个....,每个人似乎都热衷于在垃圾桶日和我聊天。他们都说我很可靠。你知道我们街上那户院子很大的人家吗?有一天,他们看到我在修剪草坪。(我说过我很擅长这个吗?)他们问我能不能也修剪他们家的草坪。我也因此得到了报酬!然后另一个邻居....,等等,这是我最喜欢的一点。我现在有自己的生意了!草坪和花园,这是我的专长。爸爸妈妈,你们帮我安排这一切。我们找了一些课程,让我学到更多技能。爸爸,现在是你开车送我去工作。米克医生,当你和我父母谈话的时候,诚实地告诉他们我的情况,以及可能发生的事情。爸爸妈妈,我知道你们会一直担心我,没关系,但要充满希望!未来对我来说是个好地方。
{"title":"The Gardener","authors":"Mick O'Keeffe","doi":"10.1111/jpc.16653","DOIUrl":"10.1111/jpc.16653","url":null,"abstract":"&lt;p&gt;Hi Mum, Hi Dad. Hello Dr. Mick.&lt;/p&gt;&lt;p&gt;I can see you all there at the clinic.&lt;/p&gt;&lt;p&gt;I'm pretty young.&lt;/p&gt;&lt;p&gt;Mum and Dad, you seem a bit sad. You're worried about me, aren't you?&lt;/p&gt;&lt;p&gt;I am a long way behind the other kindergarten kids.&lt;/p&gt;&lt;p&gt;You aren't too sure what lies ahead for me.&lt;/p&gt;&lt;p&gt;Hang on, sorry, I think I am being rude. I can be like that sometimes, without meaning to.&lt;/p&gt;&lt;p&gt;I should introduce myself, that's right, I remember now.&lt;/p&gt;&lt;p&gt;It's Cooper speaking. Future Cooper, that is.&lt;/p&gt;&lt;p&gt;I have news.&lt;/p&gt;&lt;p&gt;Would you believe me if I tell you that things work out brilliantly?&lt;/p&gt;&lt;p&gt;Mum and Dad, you will push yourself to do things for me that you can't imagine yet.&lt;/p&gt;&lt;p&gt;We practice a lot of things together when I'm little. Some nice people give you tips on what to do. I learn to talk, write my name, look after myself.&lt;/p&gt;&lt;p&gt;You will find a school that really wants me there.&lt;/p&gt;&lt;p&gt;Mrs. B, she is a great teacher, you are going to love her. The whole time I am at school, she makes sure I am going well.&lt;/p&gt;&lt;p&gt;Jimmy, the school's gardener, will let me help him out. He gives me my own garden, teaches me how to look after it.&lt;/p&gt;&lt;p&gt;I will make the front page of the school newsletter one day. The headline will say “Cooper's Green Thumb.” Can you see me there in the picture? Leaning on my garden fork, looking at the plants I've grown.&lt;/p&gt;&lt;p&gt;I learn to swim – well! You will be so proud of me when I win races at the school carnival. I still do lots of exercise, it makes me feel good.&lt;/p&gt;&lt;p&gt;Dr. Mick….what car do you drive? Ha! A red VE Holden Commodore, of course I remember! Get ready, I am going to ask you this question every time we met. What can I say, I just love cars.&lt;/p&gt;&lt;p&gt;Speaking of cars, how about this? I will learn to drive in an old Toyota on my uncle and aunt's farm. This all happens when I am still at school. Relax, it's just around the paddocks, it's fine! I still spend a lot of time down there. I love helping out and learning how to do farm jobs.&lt;/p&gt;&lt;p&gt;Right now, I am saving up for my own ute. A Volkswagen Amorak twin cab to be exact. I've always wanted one. I'll keep reminding you about that too, Dr. Mick!&lt;/p&gt;&lt;p&gt;Mum and Dad, can you see me as a teenager?&lt;/p&gt;&lt;p&gt;At the age of 13, I start putting out our neighbour's bins, just to be helpful.&lt;/p&gt;&lt;p&gt;And then another neighbour. And another….&lt;/p&gt;&lt;p&gt;Everyone seems keen for a chat on bin day. I am very reliable they all say. I even earn money for doing it.&lt;/p&gt;&lt;p&gt;You know the family in our street with the big yard? One day they see me mowing our lawn. (Did I mention I am great at this?). They ask if I can mow theirs as well. I get paid for this, too!&lt;/p&gt;&lt;p&gt;And then another neighbour….&lt;/p&gt;&lt;p&gt;Oh wait, here's my favourite bit. I have my own business now!&lt;/p&gt;&lt;p&gt;Lawns and gardens, that's my thing. I am so happy when I am outdoors.&lt;/p&gt;&lt;p&gt;Mum and Dad, you help me set it all up. We find some courses to take, so I can learn more skills. Dad, you are driving me to the jobs at the moment. But soon I'll","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"60 11","pages":"766"},"PeriodicalIF":1.6,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.16653","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characteristics and outcomes of perinatal stroke in Australia: Population-based longitudinal study 澳大利亚围产期中风的临床特征和预后:基于人口的纵向研究。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-20 DOI: 10.1111/jpc.16640
Bithi Roy, Annabel Webb, Karen Walker, Catherine Morgan, Nadia Badawi, Iona Novak

Aim

Perinatal stroke is one of the main causes of hemiplegia and seizure disorder. This study aimed to analyse the clinical characteristics and outcomes of perinatal stroke in a cohort of Australian children for its early detection.

Methods

A population-based prospective longitudinal study on perinatal stroke up to 2 years of age, was conducted from 2017 to 2019.

Results

Eighty-seven children with perinatal stroke included 79% (69/87) acute and 21% (18/87) presumed perinatal stroke. Seventy-four per cent (51/69) acute symptomatic perinatal strokes presented in the first 3 days of life and 78% (14/18) presumed perinatal strokes presented by 6 months of age. 62% had an arterial stroke, 29% had a venous stroke and 5% had a combined arterial and venous stroke. Unexpectedly, 35% (24/69) acute symptomatic perinatal stroke had only respiratory symptoms and 50% (9/18) presumed perinatal stroke were asymptomatic. The incidence of cerebral palsy was 29% (20/69) with acute symptomatic perinatal stroke and 72% (13/18) with presumed perinatal stroke.

Conclusions

The first week of a child's life is the most critical period in terms of lifelong disability from perinatal stroke. Recognising diverse clinical presentations will ensure early diagnosis and timely intervention treatments.

目的:围产期中风是导致偏瘫和癫痫发作的主要原因之一。本研究旨在分析澳大利亚儿童队列中围生期中风的临床特征和结果,以便及早发现:2017年至2019年,对2岁以下围产期中风患者进行了一项基于人群的前瞻性纵向研究:87名围产期中风患儿中,79%(69/87)为急性围产期中风,21%(18/87)为推测性围产期中风。74%(51/69)的急性无症状围产期中风患者在出生后 3 天内发病,78%(14/18)的推测围产期中风患者在 6 个月大前发病。62% 为动脉中风,29% 为静脉中风,5% 合并动脉和静脉中风。意想不到的是,35%(24/69)有症状的急性围产期中风只有呼吸道症状,50%(9/18)推测的围产期中风没有症状。急性无症状围产期中风的脑瘫发生率为 29%(20/69),推测为围产期中风的脑瘫发生率为 72%(13/18):结论:婴儿出生后的第一周是围产期中风导致终身残疾的最关键时期。识别不同的临床表现可确保早期诊断和及时干预治疗。
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引用次数: 0
Be alert to a spurious HbA1c: A rare alpha1-globin gene mutation 警惕虚假 HbA1c:罕见的 alpha1-globin 基因突变。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-19 DOI: 10.1111/jpc.16649
Lucy Collins, Eleanor Angley, Joel Smith, Fergus Cameron, Phoebe Stewart
<p>An 11-year-old girl was investigated for impaired glucose tolerance. Her medical history included transient congenital hypothyroidism. Her family medical history was notable for type 2 diabetes mellitus affecting her mother, maternal grandmother, maternal uncle and paternal grandfather. She denied history of polyuria, polydipsia, weight loss and exogenous glucocorticoid administration. On examination, her weight was 72.3 kg (99.5 percentile, <i>Z</i> = 2.59), height 160.5 cm (98.9 percentile, <i>Z</i> = 2.30) and body mass index 28.1 kg/m<sup>2</sup> (98.0 percentile, <i>Z</i> = 2.06). Acanthosis nigricans was noted circumferentially around her neck. There was no clinical stigmata of endogenous hypercortisolism. Initial biochemistry (Table 1) demonstrated elevated glycosylated haemoglobin (HbA1c) at 14.9%. Antibodies associated with type 1 diabetes mellitus were negative. Full blood count, thyroid function, renal function and haematinics were unremarkable. C-peptide was elevated. Liver function, urinary albumin/creatinine ratio and lipid profile were unremarkable.</p><p>Repeat HbA1c (14.5%, Biorad D10 Ion exchange chromatography, Fig. 1) was elevated. A presumed diagnosis of type 2 diabetes was made. Metformin extended release and 18 units of basal insulin were commenced, in addition to life-style and dietary intervention. Blood glucose monitoring reflected excellent glycaemic control, with blood sugar levels between 4.7 and 6.3 mmol/L. Basal insulin was rapidly reduced, and eventually ceased after 4 weeks due to stable blood glucose levels. A spurious HbA1c result was suspected.</p><p>Fructosamine was low at 231 μmol/L (250–380) and oral glucose tolerance test (OGTT) was normal; fasting glucose 4.5 mmol/L (<6.1 mmol), 60-min glucose 5.0 mmol/L (<7.8 mmol/L) and 120-min glucose 4.6 mmol/L (<7.8 mmol/L). A Freestyle Libre 2 Continuous Glucose Monitoring System displayed 99% of blood glucose readings in range (3.9–10.0 mmol/L). HbA1c was repeated on an alternative assay. HbA1c was normal at 5.4% (Trinity Biotech Boronate Affinity Chromatography). Metformin was ceased, and the diagnosis of type 2 diabetes was revised.</p><p>An underlying haemoglobinopathy was hypothesised to cause the discrepancy in HbA1c and OGTT results. A haemoglobinopathy screen detected an abnormal haemoglobin variant in zone 11 of 10.6%, suggestive of an uncommon alpha variant (Fig. 2). Genetic testing was undertaken. DNA sequencing found her to be compound heterozygous for the common single gene deletion (−alpha 3.7) alpha thalassaemia mutation and the HbA1:c382A>G (Hb Shantou) variant in the alpha1-globin gene. The HbA1:c382A>G (Hb Shantou) genetic variant is responsible for the haemoglobin variant.</p><p>Cascade testing in her family is underway.</p><p>The incidence of paediatric type 2 diabetes has increased, especially in high-risk ethnic groups (Indigenous Australians, Pacific Islanders and Maori people).<span><sup>1</sup></span> Close monitoring and in
一名 11 岁女孩因糖耐量受损接受了检查。她的病史包括一过性先天性甲状腺功能减退症。她的家族病史中,母亲、外祖母、舅舅和外祖父都患有 2 型糖尿病。她否认有多尿、多饮、体重减轻和外源性糖皮质激素用药史。经检查,她的体重为 72.3 千克(99.5 百分位数,Z = 2.59),身高 160.5 厘米(98.9 百分位数,Z = 2.30),体重指数为 28.1 千克/平方米(98.0 百分位数,Z = 2.06)。她的颈部周围有黑棘皮症。没有内源性皮质醇过多症的临床表现。初步生化检查(表 1)显示,糖化血红蛋白(HbA1c)升高至 14.9%。与 1 型糖尿病相关的抗体呈阴性。全血细胞计数、甲状腺功能、肾功能和血脂均无异常。C 肽升高。HbA1c(14.5%,Biorad D10 离子交换色谱法,图 1)升高。推测诊断为 2 型糖尿病。除了生活方式和饮食干预外,还开始使用二甲双胍缓释剂和 18 单位的基础胰岛素。血糖监测显示血糖控制良好,血糖水平在 4.7 至 6.3 毫摩尔/升之间。由于血糖水平稳定,基础胰岛素被迅速减少,最终在 4 周后停止使用。果糖胺较低,为 231 μmol/L (250-380),口服葡萄糖耐量试验(OGTT)正常;空腹血糖为 4.5 mmol/L (&lt;6.1 mmol),60 分钟血糖为 5.0 mmol/L (&lt;7.8 mmol/L),120 分钟血糖为 4.6 mmol/L (&lt;7.8 mmol/L)。Freestyle Libre 2 血糖连续监测系统显示 99% 的血糖读数在范围内(3.9-10.0 mmol/L)。用另一种检测方法复测了 HbA1c。HbA1c 正常,为 5.4%(三一生物技术公司硼酸盐亲和层析法)。假设潜在的血红蛋白病是导致 HbA1c 和 OGTT 结果不一致的原因。血红蛋白病筛查在第 11 区检测到 10.6% 的异常血红蛋白变异,提示为不常见的 alpha 变异(图 2)。进行了基因检测。DNA 测序发现,她是常见的单基因缺失(-α 3.7)α-地中海贫血突变和α1-球蛋白基因中的 HbA1:c382A&gt;G (汕头血红蛋白)变异的复合杂合子。HbA1:c382A&gt;G (Hb Shantou)基因变异是血红蛋白变异的原因。儿童 2 型糖尿病的发病率有所上升,尤其是在高危人群(澳大利亚土著居民、太平洋岛民和毛利人)1 中。诊断的依据是空腹血糖、OGTT 两小时血糖浓度或 HbA1c。在无症状的情况下,应在不同的日期重复检测以确认病情。2HbA1c 在糖尿病的诊断和管理中起着核心作用。A1c 的形成速度与红细胞寿命(通常为 120 天)内的葡萄糖浓度成正比。任何延长红细胞寿命或与红细胞新陈代谢减少有关的疾病,如铁/B12/叶酸缺乏性贫血和胰腺增生症,都可能导致 HbA1c 假性升高。严重的高甘油三酯血症、高胆红素血症和尿毒症也可能会使 HbA1c 假性升高3 。此外,血红蛋白变异也会导致 HbA1c 假性升高或降低。如果氨基酸取代导致净电荷发生变化(如 HbS、C、D 和 E),离子交换高效液相色谱法(HPLC)或电泳可能会受到影响。如果取代发生在糖化位点,糖化速率可能会受到影响。4 如果患者的血糖监测结果与 HbA1c 结果不一致、HbA1c 结果明显升高&gt;15%,以及 HbA1c 结果与之前的值有显著差异,则应怀疑患者存在血红蛋白变异体。关于汕头血红蛋白(HbA1:c382A&gt;G)的报道有限。5 汕头血红蛋白反映了α1-球蛋白基因上 c.382 A&gt;G 位点的核苷酸突变。5 Hb Shantou 反映了 α1-球蛋白基因上 c.382 A&gt;G 位点的核苷酸突变。一份已发表的报告描述了一例华裔孕妇因这种新型 α1-球蛋白基因突变而导致 HbA1c 值过高的病例。
{"title":"Be alert to a spurious HbA1c: A rare alpha1-globin gene mutation","authors":"Lucy Collins,&nbsp;Eleanor Angley,&nbsp;Joel Smith,&nbsp;Fergus Cameron,&nbsp;Phoebe Stewart","doi":"10.1111/jpc.16649","DOIUrl":"10.1111/jpc.16649","url":null,"abstract":"&lt;p&gt;An 11-year-old girl was investigated for impaired glucose tolerance. Her medical history included transient congenital hypothyroidism. Her family medical history was notable for type 2 diabetes mellitus affecting her mother, maternal grandmother, maternal uncle and paternal grandfather. She denied history of polyuria, polydipsia, weight loss and exogenous glucocorticoid administration. On examination, her weight was 72.3 kg (99.5 percentile, &lt;i&gt;Z&lt;/i&gt; = 2.59), height 160.5 cm (98.9 percentile, &lt;i&gt;Z&lt;/i&gt; = 2.30) and body mass index 28.1 kg/m&lt;sup&gt;2&lt;/sup&gt; (98.0 percentile, &lt;i&gt;Z&lt;/i&gt; = 2.06). Acanthosis nigricans was noted circumferentially around her neck. There was no clinical stigmata of endogenous hypercortisolism. Initial biochemistry (Table 1) demonstrated elevated glycosylated haemoglobin (HbA1c) at 14.9%. Antibodies associated with type 1 diabetes mellitus were negative. Full blood count, thyroid function, renal function and haematinics were unremarkable. C-peptide was elevated. Liver function, urinary albumin/creatinine ratio and lipid profile were unremarkable.&lt;/p&gt;&lt;p&gt;Repeat HbA1c (14.5%, Biorad D10 Ion exchange chromatography, Fig. 1) was elevated. A presumed diagnosis of type 2 diabetes was made. Metformin extended release and 18 units of basal insulin were commenced, in addition to life-style and dietary intervention. Blood glucose monitoring reflected excellent glycaemic control, with blood sugar levels between 4.7 and 6.3 mmol/L. Basal insulin was rapidly reduced, and eventually ceased after 4 weeks due to stable blood glucose levels. A spurious HbA1c result was suspected.&lt;/p&gt;&lt;p&gt;Fructosamine was low at 231 μmol/L (250–380) and oral glucose tolerance test (OGTT) was normal; fasting glucose 4.5 mmol/L (&lt;6.1 mmol), 60-min glucose 5.0 mmol/L (&lt;7.8 mmol/L) and 120-min glucose 4.6 mmol/L (&lt;7.8 mmol/L). A Freestyle Libre 2 Continuous Glucose Monitoring System displayed 99% of blood glucose readings in range (3.9–10.0 mmol/L). HbA1c was repeated on an alternative assay. HbA1c was normal at 5.4% (Trinity Biotech Boronate Affinity Chromatography). Metformin was ceased, and the diagnosis of type 2 diabetes was revised.&lt;/p&gt;&lt;p&gt;An underlying haemoglobinopathy was hypothesised to cause the discrepancy in HbA1c and OGTT results. A haemoglobinopathy screen detected an abnormal haemoglobin variant in zone 11 of 10.6%, suggestive of an uncommon alpha variant (Fig. 2). Genetic testing was undertaken. DNA sequencing found her to be compound heterozygous for the common single gene deletion (−alpha 3.7) alpha thalassaemia mutation and the HbA1:c382A&gt;G (Hb Shantou) variant in the alpha1-globin gene. The HbA1:c382A&gt;G (Hb Shantou) genetic variant is responsible for the haemoglobin variant.&lt;/p&gt;&lt;p&gt;Cascade testing in her family is underway.&lt;/p&gt;&lt;p&gt;The incidence of paediatric type 2 diabetes has increased, especially in high-risk ethnic groups (Indigenous Australians, Pacific Islanders and Maori people).&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Close monitoring and in","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"60 10","pages":"610-612"},"PeriodicalIF":1.6,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.16649","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Suicide risk among young people who use drugs in Hanoi, Vietnam: Prevalence and related factors 越南河内吸毒青少年的自杀风险:流行率及相关因素。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-19 DOI: 10.1111/jpc.16648
Pham T Luan, Quang L Pham, Doan D Tan, Nguyen T Linh, Nguyen T Long, Khuat TH Oanh, Laurent Michel, Nguyen Van Tuan

Aim

Adolescents and young adults are vulnerable to suicidality, especially those at high risk such as young people who use drugs (YPUD). This study aimed to assess the prevalence and related factors of suicide risk among this population.

Methods

We conducted a descriptive, cross-sectional study on YPUD aged 16–24 in the community in Hanoi, Vietnam. Data on socio-demographic characteristics, drug use, and adverse childhood experiences were collected using face-to-face questionnaires by research assistants. YPUD were screened by psychiatrists for depression, psychotic symptoms, and suicide risk, using the MINI questionnaire.

Results

Three hundred-seven YPUD (250 males, 57 females) participated in the study; of those, 86 (28.0%) were at risk of suicide. Gender (female), adverse childhood experiences, depression, and psychosis were relevant factors.

Conclusion

The prevalence of suicide risk among young people using drugs was high. Therefore, suicide risk should be screened and monitored in the clinical assessment of this population. In addition, the intervention efforts to detect and intervene in adverse events during childhood may be one way to prevent mental health and suicide in later life.

目的:青少年和年轻人很容易出现自杀倾向,尤其是吸毒青年(YPUD)等高危人群。本研究旨在评估这一人群中自杀风险的发生率和相关因素:我们对越南河内社区 16-24 岁的吸毒青年进行了一项描述性横断面研究。研究助理通过面对面问卷调查的方式收集了有关社会人口特征、药物使用和童年不良经历的数据。精神科医生使用 MINI 问卷对青少年进行了抑郁、精神病症状和自杀风险筛查:37名青年学生(250名男性,57名女性)参与了研究,其中86人(28.0%)有自杀风险。性别(女性)、童年不良经历、抑郁和精神病是相关因素:结论:吸毒青少年的自杀风险发生率很高。因此,在对这一人群进行临床评估时,应筛查和监测自杀风险。此外,努力发现和干预童年时期的不良事件,也可能是预防日后精神健康和自杀的一种方法。
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引用次数: 0
Effects of spinal mobilisation in adolescent idiopathic scoliosis: A randomised controlled trial 脊柱活动对青少年特发性脊柱侧凸的影响:随机对照试验
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-17 DOI: 10.1111/jpc.16650
Eylem Küçük, Erol Öten, Gürsoy Coşkun

Aim

The aim of this study was to evaluate the effects of spinal mobilisation on curvature magnitude, angle of trunk rotation (ATR) and pulmonary function in adolescents with idiopathic scoliosis (AIS).

Methods

Conducted as a double-blind randomised controlled trial, the study included 40 patients with AIS (Cobb angles 10°–25°) randomised to experimental (n = 20; female = 12, male = 8; age = 12.9 ± 1.8 mean ± SD) and control (n = 20; female = 13, male = 7; age = 12.85 ± 1.81 mean ± SD) groups. The experimental group received spinal mobilisation for 30 min per session followed by 60 min of core stabilisation exercises (CSE), twice a week for 10 weeks. The control group received CSE only at the same frequency and duration. Evaluation of Cobb angle, ATR and pulmonary function tests (PEF: Peak Expiratory Flow, FEV1: Forced Expiratory Volume in 1 s, FVC: Forced Vital Capacity, and FEV1/FVC: Tiffeneau index) were performed at baseline and after the intervention.

Results

Both groups showed significant improvements in Cobb angle, ATR, PEF and FVC, with the experimental group showing significantly greater improvements in Cobb angle (−7.65 ± 3.17) and ATR (−2.5 ± 1.43) compared to the control group (P < 0.05). In addition, while the control group showed no change in FEV1, the experimental group showed improvement. There was no change in FEV1/FVC ratio in either group.

Conclusion

These results indicate that adding spinal mobilisation to treatment sessions can effectively reduce the magnitude of curvature and improve scoliosis-related problems in the short term.

目的:本研究旨在评估脊柱活动对特发性脊柱侧弯症(AIS)青少年的曲率大小、躯干旋转角度(ATR)和肺功能的影响:该研究以双盲随机对照试验的形式进行,40 名特发性脊柱侧弯症(Cobb 角 10°-25°)患者被随机分为实验组(n = 20;女性 = 12,男性 = 8;年龄 = 12.9 ± 1.8,平均 ± SD)和对照组(n = 20;女性 = 13,男性 = 7;年龄 = 12.85 ± 1.81,平均 ± SD)。实验组接受脊柱活动训练,每次 30 分钟,然后进行 60 分钟的核心稳定训练(CSE),每周两次,持续 10 周。对照组仅接受相同频率和时间的核心稳定训练。对 Cobb 角、ATR 和肺功能测试(PEF:峰值呼气流量,FEV1:结果显示,两组患者的 Cobb 角均有明显改善:结果:两组患者的 Cobb 角、ATR、PEF 和 FVC 均有明显改善,与对照组相比,实验组的 Cobb 角(-7.65 ± 3.17)和 ATR(-2.5 ± 1.43)有明显改善(P 结论:两组患者的 Cobb 角、ATR、PEF 和 FVC 均有明显改善:这些结果表明,在治疗过程中增加脊柱活动度可在短期内有效降低弯曲程度,改善脊柱侧弯相关问题。
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引用次数: 0
The Brexit in adolescent gender dysphoria care? 青少年性别焦虑症护理中的 "英国脱欧"?
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-17 DOI: 10.1111/jpc.16651
Ludovica Barbi, Gianluca Tornese
<p>On 10 April 2024, the independent review of gender identity services for children and young people in the United Kingdom was published, the so-called ‘Cass review’.<span><sup>1</sup></span> The review aimed to advise the English National Health System on how to improve gender identity services. The review strongly recommends a new model of care where puberty blockers ‘should only be offered under a research protocol’, because ‘we have no good evidence on the long-term outcomes of interventions to manage gender-related distress’.<span><sup>1</sup></span> This decision came after a systematic review by the University of York that concluded that ‘no high-quality studies were identified that used an appropriate study design to assess the outcomes of puberty suppression in adolescents experiencing gender dysphoria/incongruence’.<span><sup>2</sup></span></p><p>While being 388 pages long, the review did not consider at the end that clinical decisions, especially in paediatrics, are not solely reliant on evidence from randomised clinical trials. For example, a study showed that among recent Cochrane Reviews, more than 9 in 10 studied health-care interventions are not supported by high-quality evidence.<span><sup>3</sup></span> Perhaps we should not use any more non-pharmacological strategies to reduce procedural pain in children (such as non-nutritive sucking, facilitated tucking, and swaddling) because most analyses in this topic were based on very low- or low-certainty grades of evidence and none were based on high-certainty evidence.<span><sup>4</sup></span></p><p>The same puberty blockers have been utilised since 1981 for treating central precocious puberty, and their use is now considered safe and effective, with no known severe long-term adverse effects. They have been licensed for central precocious puberty based on relatively short open-label studies with small groups of patients because it was impossible and unethical to perform more robust studies (i.e., randomised controlled trials).<span><sup>5</sup></span> Limited evidence exists, for example, on their psychological outcomes in children with central precocious puberty. If we aspire to the same scientific rigour as Cass review then, by the transitive property, we may well consider ceasing the prescription of puberty blockers also in children with precocious puberty.</p><p>The suggestion to increase the available evidence by using a research protocol is obviously spot-on. However, a question should be asked. On the grounds of the available evidence, including non-randomised trials, would it be ethical to force children to adhere to research protocols or to wait for >10-year follow-up study results to start using puberty blockers in clinical practice? What are the risks at stake? Children with untreated gender dysphoria are at higher risk of psychological suffering and suicide when compared to peers.<span><sup>6</sup></span> Moreover, available controlled evidence suggests that puberty bl
2024 年 4 月 10 日,英国儿童和青少年性别认同服务独立审查报告(即所谓的 "卡斯审查")1 发布。该审查强烈建议采用一种新的护理模式,即 "只有在研究方案下才能提供青春期阻断剂",因为 "我们没有很好的证据来证明管理性别相关困扰的干预措施的长期效果"。1 这一决定是在约克大学(University of York)的一项系统性综述之后做出的,该综述的结论是 "没有发现高质量的研究采用了适当的研究设计来评估青春期抑制剂对遭遇性别困扰/不协调的青少年的治疗效果"。2 虽然该综述长达 388 页,但最后却没有考虑到临床决策(尤其是儿科临床决策)并不完全依赖于随机临床试验的证据。例如,一项研究表明,在最近的 Cochrane 综述中,每 10 项研究中就有 9 项以上的医疗保健干预措施没有得到高质量证据的支持。3 也许我们不应该再使用非药物策略来减轻儿童手术疼痛(如非营养性吸吮、促进性盖被和襁褓),因为该主题中的大多数分析都是基于非常低或低确定性等级的证据,没有一项分析是基于高确定性证据。自 1981 年以来,同样的青春期阻断剂一直被用于治疗中枢性性早熟,它们的使用现在被认为是安全有效的,没有已知的严重长期不良反应。5 例如,关于这些药物对中枢性性早熟儿童心理影响的证据十分有限。如果我们能像卡斯评论那样追求科学的严谨性,那么,根据传递性质,我们完全可以考虑停止向性早熟儿童处方青春期阻断剂。然而,我们应该提出一个问题。根据现有证据(包括非随机试验),强迫儿童遵守研究方案或等待 10 年随访研究结果后才开始在临床实践中使用青春期阻断剂是否合乎道德?其中的风险有多大?与同龄人相比,患有性别焦虑症而未接受治疗的儿童遭受心理痛苦和自杀的风险更高。6 此外,现有的对照证据表明,青春期阻断剂会降低青少年转而接受平权疗法的比例。在不同的国家,青春期阻断剂在人员配备齐全、拥有高素质多专业团队的认证中心应用多年,一直是标准的治疗方法。在医学史上,一种历史悠久、安全记录良好的治疗方法,即使是基于非随机试验和专家意见,在等待更好证据的同时却被简单地禁止使用,是非常罕见的。如何将这些建议付诸实施也将是一件特别有趣的事情。预测此次审查的全球影响具有挑战性,但一个合乎逻辑的结果是,它有可能进一步分化辩论。
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引用次数: 0
Efficacy of short-course antibiotics for culture-positive neonatal sepsis: A systematic review and meta-analysis 短程抗生素对培养阳性新生儿败血症的疗效:系统回顾和荟萃分析。
IF 1.6 4区 医学 Q2 PEDIATRICS Pub Date : 2024-08-16 DOI: 10.1111/jpc.16647
Poonam Singh, Mayank Priyadarshi, Suman Chaurasia, Sriparna Basu

Sepsis is a common cause of neonatal mortality and morbidity. Though antibiotics are the mainstay of treatment in culture-positive neonatal sepsis, the dilemma persists for the optimum duration of antimicrobial therapy. The present study aimed to evaluate the efficacy of short-course antibiotics for uncomplicated culture-positive neonatal sepsis. This systematic review and meta-analysis (PROSPERO: CRD42023444899) identified, appraised, and synthesised the available evidence from randomised and quasi-randomised controlled trials related to the efficacy of short-course (7–10 days) versus standard-course (14 days) antibiotics for uncomplicated culture-positive neonatal sepsis on the rate of treatment failure, mortality, duration of hospitalisation, morbidities including antibiotics-related adverse events, long-term neurodevelopmental outcomes and cost analysis. Data were pooled using RevMan 5.4 software. Certainty of evidence (COE) for predefined outcomes was analysed by GRADE. Available evidence showed no significant difference in the rate of treatment failure between 7- to 10-day versus 14-day antibiotics courses [risk ratio (95% confidence interval, CI), 2.45 (0.93–6.47), I2 = 0%, six studies, n = 573, very low COE]. No incidence of death was reported in either treatment arm in the two included studies. Duration of hospitalisation was significantly shorter with the short-course antibiotics arm compared to standard-course [mean difference (95% CI), −3.88 (−4.22 to −3.54) days, I2 = 0%, five studies, n = 507, low COE]. Morbidities reported in the three studies were similar. Other outcomes were not reported. To conclude the evidence is very uncertain about the effect of short-course antibiotic regimen, compared to a standard-course, on the treatment failure rate in uncomplicated culture-positive neonatal sepsis. Adequately powered trials with outcomes including death and long-term neurodevelopmental impairment are needed.

败血症是新生儿死亡和发病的常见原因。虽然抗生素是治疗培养阳性新生儿败血症的主要药物,但抗菌治疗的最佳持续时间却一直是个难题。本研究旨在评估短程抗生素治疗无并发症培养阳性新生儿败血症的疗效。本系统综述和荟萃分析(PROSPERO:CRD42023444899)从随机和准随机对照试验中鉴定、评估和综合了与无并发症培养阳性新生儿败血症短疗程(7-10 天)与标准疗程(14 天)抗生素疗效相关的现有证据,包括治疗失败率、死亡率、住院时间、发病率(包括抗生素相关不良事件)、长期神经发育结果和成本分析。数据使用 RevMan 5.4 软件进行汇总。通过 GRADE 对预定义结果的证据确定性(COE)进行了分析。现有证据显示,7-10 天抗生素疗程与 14 天抗生素疗程的治疗失败率无明显差异[风险比(95% 置信区间,CI),2.45 (0.93-6.47),I2 = 0%,6 项研究,n = 573,极低 COE]。在纳入的两项研究中,两种治疗方法均未报告死亡病例。短程抗生素治疗组的住院时间明显短于标准治疗组[平均差异(95% CI),-3.88(-4.22 至-3.54)天,I2 = 0%,5 项研究,n = 507,低 COE]。三项研究报告的发病率相似。其他结果未见报道。总之,与标准疗程相比,短疗程抗生素方案对无并发症培养阳性新生儿败血症治疗失败率的影响尚不确定。需要进行充分有效的试验,以得出包括死亡和长期神经发育障碍在内的结果。
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引用次数: 0
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Journal of paediatrics and child health
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