Journal of paediatrics and child health最新文献

{"title":"Pyloric Stenosis in Premature Twins: A Case Report","authors":"S. P. Y. Tan Tanny, K. Vanhaltren, M. Ditchfield, M. Pacilli, R. M. Nataraja","doi":"10.1111/jpc.70074","DOIUrl":"10.1111/jpc.70074","url":null,"abstract":"<p>Pyloric stenosis occurs due to genetic and environmental factors, with an association of 0.25%–0.44% in monozygotic twins [<span>1</span>]. Bienfait et al. [<span>1</span>] reported the mean age of diagnosis at 38 days, though this may be underdiagnosed in premature infants as pyloric stenosis may present as feed intolerance in this group. Here, we present a case of monozygotic twins, who presented at 30 days old with feed intolerance (non-bilious vomiting), normal blood gas, and ultrasound demonstrating hypertrophic pyloric stenosis—an atypical presentation of twins who developed pyloric stenosis simultaneously.</p><p>Two monochorionic diamniotic twin males were born to a 35-year-old female, G6P0, at 32 + 4 weeks gestation, via in vitro fertilisation pregnancy. Non-invasive prenatal testing was low risk, with 14% growth discordance, but no twin-twin transfusion syndrome. Maternal history included short cervix requiring cerclage and progesterone, and iron deficiency. There was no known family history of pyloric stenosis. Delivery was via emergency caesarean section for an abnormal cardiotocogram.</p><p>Twin 1 was born with normal Apgar scores. Twin 2 required resuscitation and stimulation, as Apgar scores were 6 and 8 (1 and 5 min). They were admitted to the neonatal intensive care unit for respiratory distress syndrome and jaundice requiring phototherapy. Twin 1 required continuous positive airway pressure (CPAP) for 2 days. Twin 2 required CPAP for 6 days. Both were transferred to the special care nursery (SCN) at 7 days. Twin 1 was discharged to Hospital in The Home (HITH) at corrected age 35 + 5 weeks and discharged from HITH 2 days later after adequate weight gain. Twin 2 was discharged to HITH at corrected age 36 + 4 weeks. Both required nasogastric tube feeding during admission.</p><p>Twin 2 was re-admitted to SCN 2 days later for non-bilious vomiting post feeds, with a working diagnosis of gastro-oesophageal reflux. He was commenced on omeprazole. However, due to persistent vomiting and slow growth, an abdominal ultrasound was requested. This showed features of pyloric stenosis, with 3.3 mm muscle wall thickness and 17 mm pyloric canal at corrected age 37 weeks (Figure 1). Only trickle flow of gastric contents was seen through the pylorus. Blood gas remained normal throughout admission (Table 1 showing admission results). He underwent laparoscopic pyloromyotomy on day 5 of admission; intra-operative findings confirmed pyloric stenosis (Figure 2). He progressed well with feeding post-operatively (formula) to be discharged home on day 7 of admission.</p><p>Due to Twin 2's readmission, parents were concerned Twin 1 may have similar diagnosis, though clinically he was having possets post feeding, without high clinical suspicion of pyloric stenosis. He was brought into emergency department at corrected age 36 + 6 weeks and observed overnight, with intermittent milky vomits. He had normal blood gas (Table 1). On examination, abdomen was soft","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1148-1151"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967441","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}

{"title":"The Fog of Wards","authors":"Gabriel Dabscheck, Nicola D. Fearn","doi":"10.1111/jpc.70075","DOIUrl":"10.1111/jpc.70075","url":null,"abstract":"<p>Our department meets for Morbidity and Mortality meetings every quarter. The confidential discussions are non-judgemental and non-confrontational. We acknowledge the professionalism of all the clinicians involved in the cases being discussed and look for systems problems to review and address. As much as we try, we cannot prevent a spike in anxiety in the lead-up to our meetings. Everyone involved in the cases being discussed, especially the doctors in training, dread the meetings.</p><p>Medicine is hard. Inpatient medicine is especially hard. Dealing with sick children is a challenge. Emotional, distressed, anxious, or threatening parents are a challenge. Making informed, timely decisions is hard. Trying to manage a team of clinicians with differing levels of skill and enthusiasm is hard. Working in an often cramped and noisy office, focusing while there is a wall of noise from other teams handing over in the background, is hard.</p><p>We look to the evidence for guidance. Case reviews and case studies present clinical medicine as orderly and methodical. Data is presented in a logical sequence. The authors portray themselves as calm and professional. No one describes how it took three different people to do the lumbar puncture, or that the MRI was only performed after three calls to the on-call radiologist and two calls to the anaesthetist. The evidence often gives the false impression that clinical medicine is calm and efficient.</p><p>The expression ‘fog of war’ has been used to capture the uncertainty of the situation in war for more than a century. It aims to describe the uncertainty in situation awareness that soldiers experience in military operations.</p><p>We should acknowledge to our doctors in training that ward work is hard. The weeks of ward service are the most intense weeks of our year. Many of our colleagues fear their weeks on the ward. We discuss amongst ourselves the “fog of wards”: The difficulty in making time-sensitive decisions with incomplete data, of having to juggle two or three phones, the constant stream of ‘chat’ messages, the multiple interruptions and demands, the burden of the hundreds of clinical decisions, and the fear of making a mistake, of missing a critically ill child.</p><p>When we sit down at our next Morbidity and Mortality meeting, the opening slide, as well as acknowledging that the meeting is confidential and non-judgemental, will acknowledge the fog of wards. The cases will be discussed as bullet points, methodically and thoroughly. But, we will acknowledge that ward work is hard and stressful, and that no matter how many years we practise, the fog of wards never lifts.</p><p>We will also highlight what can be done to lift the fog: Minimise distractions on the ward. Find a quiet space to work. Treat the ward round with the respect it deserves and call people back who interrupt it. No one stops surgery to take a non-urgent call; you should not stop a ward round either for non-urgent interruptions. W","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1154-1155"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70075","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005928","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}

{"title":"Ultrasound-Assisted Lumbar Puncture in Infants: Success Rate of Diverse Providers Performing Both Procedures","authors":"Rei Miyake,&nbsp;Serena Hamanaka,&nbsp;Kento Ikegawa,&nbsp;Yumi Araki,&nbsp;Takahiro Itagaki,&nbsp;Norihiro Tokuma,&nbsp;Yuki Murata,&nbsp;Reiko Yatabe,&nbsp;Takuya Wada,&nbsp;Satoko Suzuki,&nbsp;Hiroshi Hataya,&nbsp;Yoshihiko Morikawa","doi":"10.1111/jpc.70076","DOIUrl":"10.1111/jpc.70076","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Recent studies have reported the utility of performing an ultrasound examination before a lumbar puncture (LP) in infants. However, these studies involved different individuals performing each procedure, unlike the typical situation in the emergency department (ED) settings. This study aimed to determine the success rate of LP in infants when the same individuals within a diverse group of providers performed both procedures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This prospective, observational study was conducted in the ED of a paediatric tertiary care hospital and included infants aged &lt; 90 days. Physicians performed ultrasound before the LP, ensuring that the needle insertion did not exceed the measured distance to the ventral subarachnoid space. The primary outcome was the proportion of successful LPs, and the secondary outcomes included factors associated with the success of the procedure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eighty patients were included. The proportion of successful LP was 68% (95% confidence interval [CI]: 57%–77%), which was comparable to that achieved using the standard palpation method. Multivariable analysis found a significant association of LP success with the absence of patients' movements (odds ratio [OR]: 6.40; 95% CI: 1.53–26.8) and procedures performed by attending physicians (OR: 12.3; 95% CI: 1.48–102).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Pre-LP ultrasound may not improve the success rate of LP in infants if performed by a diverse group of providers, even if the same providers perform both procedures. Factors such as minimising patients' movements and the providers' experience were significantly related to improving the LP success rate.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1063-1068"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Different Levels of Salivary Free N-Acetylneuraminic Acid (Sialic Acid) Between Children With Autism Spectrum Disorder and Healthy Ones","authors":"Biyun Li,&nbsp;Xue Zhou,&nbsp;Qinfei Miao,&nbsp;Mingxing Gu,&nbsp;Huimei Xiao,&nbsp;Fang Liu,&nbsp;Changhong Li,&nbsp;Yanqun Chang","doi":"10.1111/jpc.70073","DOIUrl":"10.1111/jpc.70073","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The objective of this investigation is to explore the potential correlation between salivary free Sias and ASD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This case–control study enrolled 141 children with ASD and 123 age-matched healthy controls. Utilising an enzymatic assay, we determined the free Sias in saliva. Using the CARS, the behavioural symptoms of children with ASD were evaluated and ranked from mild to severe. A feeding questionnaire was developed and completed by 108 children with ASD and 114 controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The level of salivary free Sias was significantly lower in the control group than in the ASD group (<i>p</i> &lt; 0.001). The diagnostic value of salivary free Sias for ASD has a sensitivity of 54.6%, specificity of 97.6%, and an area under the ROC curve of 0.803. The level of salivary free Sias, total breastfeeding time, and time of adding solid food are significantly different between the two controls and ASD who completed the feeding questionnaire. ASD children were found to be associated with a high level of Sias (OR 1.007, 95% CI 1.005–1.010) and a reduced total breastfeeding duration (OR 0.887, 95% CI 0.887–0.949) in a subsequent multivariate analysis. The rate of various primary feeding patterns after birth is significantly different between the ASD and control group (<i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The data suggests that free salivary Sias has the potential to be utilised as a biomarker for the diagnosis of ASD. However, a well-designed prospective study is necessary to reach a more definitive conclusion about breastfeeding's ability to protect against ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1056-1062"},"PeriodicalIF":1.6,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Single Centre's Experience of Non-Iatrogenic Neonatal Bilateral Vocal Cord Paralysis","authors":"Ezra Lluís Nisa,&nbsp;Karen Davies,&nbsp;Anastasia Pellicano,&nbsp;Natalie Duffy","doi":"10.1111/jpc.70070","DOIUrl":"10.1111/jpc.70070","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To review our institutional experience with bilateral vocal cord paralysis (BVCP) of non-iatrogenic origin in neonates, with a particular focus on diagnostic methods and the changing role of tracheostomy and non-invasive ventilation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Study Design</h3>\u0000 \u0000 <p>Retrospective, single-centre study at a tertiary paediatric hospital.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Our BVCP population was reviewed (2003–2020). We extracted demographics, diagnostic methods (endoscopy and imaging), methods of respiratory/ventilatory support, and functional outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>60 neonates with BVCP were included. All underwent endoscopic assessment, revealing synchronous airway lesions in 20% of the cases. Brain MRIs were obtained in 55/60 patients and showed anomalies in 30% of the cases, particularly intracranial haemorrhages, with only one structural anomaly of the brain. Approximately two-thirds of the children required respiratory/ventilatory support, and 16/60 children received tracheostomies. We observed a progressive reduction in the use of tracheostomies over the study period, with in parallel a longer length of respiratory or ventilator support. 4/16 children remained tracheostomy dependent at last follow-up, all of them with associated comorbidities. The only significant feature associated with the need for tracheostomy was previous intubation. Overall, almost 40% of the children needed nutritional support at discharge. No deaths related to BVCP occurred.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We observed a significant decrease in the use of tracheostomies within the study period. The need for intubation and existence of comorbidities seems to be the most relevant outcome factors. Incomplete recovery and swallowing impairment are common, thus warranting long-term follow-up.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1039-1048"},"PeriodicalIF":1.6,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes","authors":"Neslihan Gürcan Kaya,&nbsp;Hakan Öztürk,&nbsp;Sinan Sarı,&nbsp;Ödül Eğritaş Gürkan,&nbsp;Buket Dalgıç","doi":"10.1111/jpc.70072","DOIUrl":"10.1111/jpc.70072","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Neonatal cholestasis is a group of disorders characterised by conjugated hyperbilirubinemia in the newborns and young infants. Advances in genetic testing have facilitated the identification of specific aetiology. This study examines the genetic and clinical profiles of neonates with cholestasis, focusing on genotype–phenotype correlations and diagnostic outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective review of children with neonatal cholestasis treated between 1997 and 2024 was conducted. Extrahepatic causes were excluded, and genetic testing, including a targeted cholestasis panel and whole exome sequencing (WES), was employed. Clinical and biochemical data, including gamma-glutamyl transferase (GGT) levels, were collected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Genetic disorders were identified in 28.0% of 378 cases, including mutations in ATP8B1, ABCB11, ABCB4, DCDC2, DGUOK, KIF12, USP53, and genes related to bile acid synthesis (HSD3B7, PEX1). GGT levels played a significant role in diagnosis: patients with low or normal GGT were frequently diagnosed with progressive familial intrahepatic cholestasis (PFIC)1 and 2, or bile acid synthesis defects, while high GGT levels were associated with PFIC3, alpha-1 antitrypsin deficiency, and cystic fibrosis. Consanguinity was noted in 56.0% of genetically diagnosed cases. After 2010, 35.5% of patients received a genetic diagnosis, compared to 18.2% before 2010.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Genetic diseases are a major cause of neonatal cholestasis, and GGT levels serve as a useful diagnostic tool in differentiating subtypes. The increasing availability of genetic testing has improved early diagnosis and personalised management. Expanded genetic testing in clinical practice is critical for timely and accurate diagnosis of these rare disorders.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1049-1055"},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Iron Deficiency in Young Australian Children: A Hidden Health Crisis Demanding Urgent Action","authors":"Nina D'Vaz,&nbsp;Natasha Bear,&nbsp;Jamie Tan,&nbsp;Sarah Whalan,&nbsp;Courtney Kidd,&nbsp;Desiree T. Silva","doi":"10.1111/jpc.70068","DOIUrl":"10.1111/jpc.70068","url":null,"abstract":"&lt;p&gt;Iron deficiency remains a determinant of child health in Australia and is the leading risk factor for burden of disease in children under 5 years old [&lt;span&gt;1&lt;/span&gt;]. Despite this, there is still a lack of urgency in addressing the problem. We present this paper, which highlights current iron deficiency data from The ORIGINS Project (ORIGINS), a large study of children in Perth, Western Australia, and call for increased attention to this widespread concern.&lt;/p&gt;&lt;p&gt;Iron deficiency is especially common in young children due to their increased iron needs during rapid growth and development [&lt;span&gt;1&lt;/span&gt;], combined with often limited intake of iron-rich foods. This is particularly evident during the transition from milk-based diets to family meals, which are frequently low in iron. Untreated iron deficiency can lead to anaemia, impaired growth and developmental issues, including neurodevelopmental and social–emotional problems such as anxiety, depression and attention difficulties [&lt;span&gt;2&lt;/span&gt;]. These issues may persist into adulthood, even without anaemia. While iron deficiency can often be corrected through supplementation, it is crucial to address this issue early, as some effects may be irreversible.&lt;/p&gt;&lt;p&gt;The criteria for iron deficiency in well young children varies, and while serum ferritin values &lt; 20 μg/L is a common clinical cut-off, WHO guidelines from 2020 define &lt; 12 μg/L as the cut-off value for iron deficiency in children up to 5 years of age [&lt;span&gt;3&lt;/span&gt;]. Similarly, normative values are not well defined and may vary between individuals and differ between different conditions such as sleep, behaviour and immune abnormalities. The understanding of iron deficiency and sufficiency would benefit from large-scale population investigations such as ORIGINS [&lt;span&gt;4&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Presented here is diagnostic serum ferritin levels, full blood pictures and high sensitivity C-reactive protein data (HS CRP) collected from the ORIGINS cohort's child participants (55.3% male) at 1- and 3-year clinic visits from 2017 to 2024. The described children (and their families) were recruited from the general population, are predominantly (82.8%) Caucasian and of relatively high socio-economic status based on Socio-Economic Indexes for Areas (SEIFA) and Index of Relative Socio-Economic Advantage and Disadvantage (IRSAD) scores. Preliminary findings from ORIGINS show a concerning prevalence of iron deficiency, at 15% of 1-year-old children and 20% of 3-year-old children, using the WHO cut-off value of &lt; 12 μg/L, see Table 1. Children with elevated inflammatory markers (HS CRP) were excluded from the analysis as inflammation may lead to elevated ferritin results. All children with low ferritin levels or other significant health/developmental concerns were consulted by paediatricians and received referrals for follow-up as necessary.&lt;/p&gt;&lt;p&gt;It is noteworthy that many children in the ORIGINS cohort could not be screened for iron deficiency du","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1152-1153"},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997899","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}

{"title":"A Juvenile Myasthenia Gravis Crisis in a Previously Undiagnosed Child—A Case Report","authors":"Roger Jen,&nbsp;Deyan Momirovski,&nbsp;Sarah Andrews","doi":"10.1111/jpc.70071","DOIUrl":"10.1111/jpc.70071","url":null,"abstract":"","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1145-1147"},"PeriodicalIF":1.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report","authors":"Hatice Yilmaz Dagli,&nbsp;Nurten Özkan Zarif,&nbsp;Kıymet Çelik,&nbsp;Sema Arayici,&nbsp;Hakan Ongun,&nbsp;Reha Artan,&nbsp;İbrahim İnanç Mendilcioğlu","doi":"10.1111/jpc.70067","DOIUrl":"10.1111/jpc.70067","url":null,"abstract":"&lt;p&gt;Congenital sodium diarrhoea (CSD) is a rare autosomal recessive disease characterised by polyhydramnios, hyponatraemia, metabolic acidosis and diarrhoea with high sodium content, and fewer than 50 cases have been reported in the literature to date [&lt;span&gt;1&lt;/span&gt;]. We believe that a high level of suspicion is important for the diagnosis and early treatment of the disease.&lt;/p&gt;&lt;p&gt;The female baby was born to a 26-year-old gravida 1 mother by caesarean section at 33 2/7 weeks of gestation, weighing 2480 g. The newborn was admitted to the neonatal intensive care unit with abdominal distension at first evaluation and suspected obstruction. Prenatal history showed maternal polyhydramnios, distended foetal abdomen and generalised widening of foetal intestinal loops (Figure 1). Family history showed that the mother and father were first-degree cousins. The patient's complete blood count, C-reactive protein (CRP) level, glucose, serum electrolytes, lipid profile, kidney and liver function tests were normal. Blood gas parameters were as follows: pH 7.29, pCO&lt;sub&gt;2&lt;/sub&gt; 41.1 mmHg, HCO&lt;sub&gt;3&lt;/sub&gt; 19 mmol/L and the base deficit was −6 mmol/L. No gas was observed in the intestinal system on abdominal radiography.&lt;/p&gt;&lt;p&gt;Abdominal ultrasonography revealed no findings other than a gas-filled abdomen. Contrast-enema radiography showed dilated intestinal loops and no contrast material passing beyond the descending colon. The patient underwent exploratory laparotomy on the third day of life. Intraoperative findings included extensive intestinal distension with fluid-filled bowel without any obstruction or atresia. Frozen section pathologic examination of biopsies revealed aganglionic rectum, and the patient underwent a sigmoid colostomy; the procedure was terminated in accordance with surgical procedures.&lt;/p&gt;&lt;p&gt;The patient's complete blood count, CRP level, glucose, serum electrolytes, lipid profile and kidney and liver function tests were repeatedly normal. The baby continued to live with acidosis and high stool output, which required strict treatment adjustments and prolonged the length of stay (Figure 2). Diarrhoea continued even after oral feeding was discontinued. There was no evidence of systemic or local inflammation. On the 74th day of life, the patient's serum sodium was 112 meq/L, pH was 7.28, pCO&lt;sub&gt;2&lt;/sub&gt; was 31.3 mmHg, HCO&lt;sub&gt;3&lt;/sub&gt; was 18 mmol/L and the base deficit was −7.6 mmol/L. Stool microscopy and stool culture were normal for infectious agents. The stool pH was 8. The stool sodium level was 130 mmol/L (reference: 20–50 mmol/L), the stool chloride level was 78 mmol/L (reference: 5–25 mmol/L) and the stool potassium level was 15 mmol/L (reference: 55–65 mmol/L). Stool osmolarity was measured as 0 mmol/L, resulting in secretory diarrhoea. No fat vacuoles were seen in direct stool examination. Newborn screening was normal. Stool pancreatic elastase levels were in the low range as a result of watery stools. Colonoscopy showed normal macroscop","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1138-1144"},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998346","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}

{"title":"Gold Standard Home Nasogastric Tube Feeding for Infants and Children","authors":"SUCCEED Child Feeding Alliance,&nbsp;Lina Breik,&nbsp;Ethan Chaffey,&nbsp;Katherine Chan,&nbsp;Jayde Coy,&nbsp;Naomi Crockett,&nbsp;Francesca Crowe,&nbsp;Ann Dadich,&nbsp;Jacqueline Dalby-Payne,&nbsp;Bonnie Dorise,&nbsp;Kay Downie,&nbsp;Chris Elliot,&nbsp;Vita Fletcher,&nbsp;Krystal Furey,&nbsp;Melissa Glaysher,&nbsp;Jessica Gowans,&nbsp;Katelyn Guinea,&nbsp;Siobhan Handley,&nbsp;Tania Hillman,&nbsp;Melissa Homan,&nbsp;Anna Ierardo,&nbsp;Emily J. Lively,&nbsp;Rachel Low,&nbsp;Khadeejah Moraby,&nbsp;Suzanne Morony,&nbsp;Chee Y. Ooi,&nbsp;Noémi Scheuring,&nbsp;Meg Simione,&nbsp;Susan Woolfenden,&nbsp;Simone Wright,&nbsp;Nick Hopwood","doi":"10.1111/jpc.70052","DOIUrl":"10.1111/jpc.70052","url":null,"abstract":"<p>Paediatric home enteral nutrition (HEN) is becoming more common. Existing research and guidelines point to the importance of carer education. However, ongoing HEN care in the community is not well covered, and many of those caring for children with feeding tubes have insufficient training, contributing to safety incidents in paediatric HEN. This article presents a novel gold standard for home nasogastric tube feeding for infants and children. It is developed through interviews with clinicians (<i>n</i> = 13) and parents (<i>n</i> = 4), and revised in consultation with a wider group of clinicians (<i>n</i> = 22), parents (<i>n</i> = 4), researchers (<i>n</i> = 2) and other professionals involved in supporting families with children who tube feed (<i>n</i> = 2). The gold standard reflects the authors' consensus recommendations. Alignment of its features with peer-reviewed research is highlighted. The gold standard considers NG tube feeding at home as a mealtime (rather than medical procedure) that is safe, responsive to the child's cues, and family friendly. Where weaning is expected, it also prepares the child for this.</p>","PeriodicalId":16648,"journal":{"name":"Journal of paediatrics and child health","volume":"61 7","pages":"1006-1013"},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jpc.70052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009732","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}