Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients

Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the “classical” presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.     

A home health record for children with chronic health conditions.

A Home Health Record was developed to assist parents in organizing health care information about their children who have disabilities or chronic health conditions. This record serves as a health summary to be used during travel, periods of respite care, and by grown children as they become independent health care consumers. It is intended to facilitate parent and professional collaboration, support family-centered care, and improve communication between professionals. Parents are encouraged to carry the record with them to all of their child's medical appointments to document pertinent information and to share health data with professionals.     

Quality of care of VLBW neonates: relationship between unit volume and outcome is different between metropolitan and rural regions

Abstract Background: Recent studies from predominantly rural areas in Germany show that neonatal outcome of very low birth weight (VLBW) neonates is (on average) inferior with lower NICU (neonatal intensive care unit) volume. However, there are no data available which show that study results of one specific region can be transferred to other areas with possibly different medical infrastructure and needs. Aim: It was investigated whether a systematic difference of treatment quality between smaller (1000-2000 births/year; 3000 births/year; >20 neonatal beds) exists. Furthermore, the results are compared to data from a rural region in order to discuss transferability between regions. Methods: Retrospectively, completely, and for the first time, the data of all centres which treat VLBW neonates (相似文献   

早期新生儿病理性气胸的围生因素分析

目的分析早期新生儿病理性气胸的围生因素。方法收集2005年1月-2011年2月本院病理性气胸患儿38例(病例组),按13的比例,选择病例组住院号连续3份相同孕周产科分娩新生儿为对照组,对其临床资料进行回顾分析,分析发生病理性气胸的围生因素。结果早期新生儿病理性气胸占同期活产儿比例即发病率为0.25‰(38/150 575例)。肺部基础疾病包括肺炎(7.9%)和湿肺(92.1%)2种。经保守治疗和胸腔穿刺或引流后痊愈。病例组63.2%的患儿孕周<39周。病例组剖宫产娩出率(73.7%)、男童比例(81.6%)、羊水混浊率(34.2%)均显著高于对照组(Pa<0.05)。Logistic回归分析显示:男童、羊水混浊、剖宫产是增加7 d内新生儿发生气胸的危险因素,OR值(95%CI)分别为5.585(2.169～14.382)、3.431(1.336～8.811)、3.294(1.356～8.001)。结论湿肺是引起新生儿病理性气胸的原因之一,剖宫产是早期新生儿发生病理性气胸的重要危险因素。产科医师应严格控制选择性剖宫产率,尽可能在39周后进行选择性剖宫产,儿科医师对合并肺部并发症的新生儿出生48 h内严密观察病情,及时随访胸片,及早诊治病理性气胸。     

Apgar scores reported in personal child health records: Validity for epidemiological studies?

Aim: In epidemiological studies on children, information in the neonatal period that might affect children's long‐term health could be extracted from the personal child health record (PCHR), because the booklet exists in most countries. We aimed to assess, in individual children, the validity of Apgar scores reported in the PCHR using maternity medical records as the gold standard. Methods: In two French hospitals, 435 women who had a child in January 2006 were recruited and 90% filled in a postal questionnaire 6 weeks after delivery, copying neonatal information (including Apgar scores) from the PCHR. This information was compared with data independently recorded at birth by physicians in maternity medical records. Results: We found that the proportion of missing Apgar scores in the PCHR was higher when scores in the medical records were lower. Moreover, Apgar scores reported in the PCHR were overestimated when scores in the medical records were low. Using medical records as the gold standard, specificity for PCHR‐reported 1‐min Apgar score was 100% and sensitivity 33%. Similar trends were found for the 5‐min score. This supports the hypothesis that information considered as ‘socially sensitive’ by physicians may be intentionally altered in PCHRs. Conclusions: Apgar scores reported in PCHRs may not yield reliable information for epidemiological studies. When the PCHR is the only source of information for the neonatal period in an epidemiological study, it would be preferable to use a composite neonatal indicator rather than the Apgar score.     

What do doctors record in the medical notes following discussion with the parents of sick premature infants?

In a retrospective review of medical notes we determined: (1) how often doctors record discussions with the parents of very low birth weight (VLBW) infants during the neonatal period; (2) what details of any discussion they actually record and; (3) if they are more likely to record discussion with the parents of sicker infants. A random sample (30%) of all VLBW infants admitted between 1989 and 1993 to a regional NICU was reviewed, n = 87. No discussion was documented in 47 cases, one of whom died, 24 had a single episode of discussion recorded and 16 had two or more episodes recorded. Specific discussion about prognosis was only recorded in the notes of 27 babies. Discussion was more likely to be documented in sicker infants as measured by CRIB (clinical risk index for babies) score, t = −3.9, P<0.001. Conclusion A record of discussion between medical staff and parents is found in the medical notes of less than half of all VLBW infants. These findings may have practical, ethical and legal implications. Received: 4 December 1996 / Accepted in revised form: 2 May 1997     

Reproductive decisions after neonatal screening identifies cystic fibrosis

AIMS: To document the reproductive choices made by women in New South Wales, Australia, after neonatal screening has identified cystic fibrosis (CF). METHODS: A sample of women attending cystic fibrosis clinics in New South Wales who had a child (or children) diagnosed by neonatal screening between 1981 and 1996 were interviewed. RESULTS: Two thirds of the women chose to avoid having another child with CF. The uptake of prenatal diagnosis was 66% in women who had a subsequent pregnancy; of these 69% terminated or would have terminated an affected fetus. Fifty nine per cent of the women who decided against a further pregnancy made this decision in order to avoid having another child with CF. CONCLUSIONS: These data show that having a child with CF influenced subsequent reproductive choices. In addition to the medical advantages of an early diagnosis offered by neonatal screening, this also allows informed future reproductive decisions.     

Congenital self-healing reticulohistiocytosis - an important diagnostic challenge

Aim: To present current and new knowledge on congenital self‐healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods: We describe and photo document two cases of this rare disease and review the literature. Results: Only few newborns have acute access to a neonatal dermatologist, and we demonstrate how the spontaneous cutaneous involution may happen even prior to the first dermatological assessment. As no sole criterion can reliably distinguish the self‐healing form from disseminated disease, multidisciplinary assessment and follow‐up are essential. Conclusion: Our data document how easily the diagnosis congenital self‐healing reticulocytosis may be missed and emphasize the importance and value of instant clinical photographing at the neonatal unit and the use of teledermatology whenever congenital self‐healing reticulohistiocytosis is suspected.     

Recurrent wheezing in very preterm infants.

AIMS: To document the prevalence of, and identify risk factors for, recurrent wheezing treated with bronchodilators in the first year of life. METHODS: Parental history and neonatal data were collected prospectively in a regional cohort of very preterm infants (< 33 weeks). Data on maternal smoking, siblings at home, breast feeding, respiratory symptoms, and hospital re-admissions were documented at 12 months. RESULTS: Outcome data were available for 525/560 (95%) of survivors. The incidence of recurrent wheeze was 76/525 (14.5%) in very preterm infants and 20/657 (3%) in a cohort of term newborns. Significant risk factors for recurrent wheeze in very preterm infants were parental history of asthma, maternal smoking, siblings at home, neonatal oxygen supplementation at 28 days, 36, and 40 weeks of gestation. CONCLUSIONS: Wheezing respiratory illnesses are common in very preterm infants. The factors involved are similar to those in more mature infants, with the addition of immaturity and neonatal lung injury.     

Comprehensive computerized neonatal intensive care unit data system including real-time, computer-generated daily progress notes.

A neonatal intensive care unit patient data system, NeoData, which was developed using microcomputers connected by a local area network, is described. The system allows for real-time generation of daily progress notes, as well as admission and discharge summaries. It includes two databases: one for daily patient data and one for admission/discharge summary data. Both sets of data are easily accessible for later analysis and report generation. The daily patient data are entered directly into a computer by the neonatal intensive care unit medical and nurse practitioner staff; a progress note is printed immediately thereafter for inclusion in the patient's chart. Data from the previous day are selectively carried forward into the current day's note, minimizing data entry. Several benefits are derived from this progress note system, including legibility, tracking of laboratory and other data, tracking of management plans and procedures due at a later date, and significant time savings. The system has proved to be easy to learn, and the neonatal intensive care unit staff have found it to contribute to the efficient delivery of patient care.     

Special requirements of electronic health record systems in pediatrics

Some functions of an electronic health record system are much more important in providing pediatric care than in adult care. Pediatricians commonly complain about the absence of these "pediatric functions" when they are not available in electronic health record systems. To stimulate electronic health record system vendors to recognize and incorporate pediatric functionality into pediatric electronic health record systems, this clinical report reviews the major functions of importance to child health care providers. Also reviewed are important but less critical functions, any of which might be of major importance in a particular clinical context. The major areas described here are immunization management, growth tracking, medication dosing, data norms, and privacy in special pediatric populations. The American Academy of Pediatrics believes that if the functions described in this document are supported in all electronic health record systems, these systems will be more useful for patients of all ages.     

新生儿重症监护室医源性皮肤损伤多中心横断面调查

背景：医源性皮肤损伤是入住NICU的新生儿面临的常见问题。目的：了解我国NICU内新生儿医源性皮肤损伤的发生率。设计：横断面调查。方法：建立NICU新生儿的医源性皮肤损伤临床资料数据库（简称数据库）,由复旦大学附属儿科医院NICU牵头,包括中国15个省、自治区、直辖市的22家三级甲等医院（简称协作医院）NICU。将医源性皮肤损伤的原因归纳为7类：尿布相关、粘胶相关、压力相关（包括医疗器械相关）、外科手术相关、血管通路相关、各种理化因素相关、其他。数据库上报的对象为协作医院NICU的连续病例,上报数据均来源于所在医院电子病历系统或纸质医疗文书记录。数据上报项目：一般资料,各种医疗器械使用情况,医源性皮肤损伤事件,每次医源性皮肤损伤发生时的日龄、体重、住院时长,皮肤损伤的部位、大小、类型、颜色、处理措施和预后。由牵头医院针对数据库上报指标对协作医院进行培训并考核合格后开始数据的收集并审核。主要结局指标：医源性皮肤损伤发生率。结果：2019年12月1日至2020年1月31日22家协作医院收集的NICU连续病例（n=8 126）数据全部合格,纳入本文分析。其中医源性皮肤损伤521例（6.4%）,儿童专科医院、综合性医院和妇幼保健院的NICU医源性皮肤损伤的发生率分别为7.4%（280/3 783）、6.4%（153/2 387）和4.5%（88/1 956）。521例共发生566例次医源性皮肤损伤,发生2次医源性皮肤损伤45例（8.6%）。医源性皮肤损伤发生日龄中位数为6(3,17)d,生后1周内发生者占57.4%（299例）;发生医源性皮肤损伤的新生儿入院纠正胎龄中位数为37.2（32.7,40.0）周,纠正胎龄≥37周占56.4%（294例）;发生医源性皮肤损伤时的体重中位数为2 800(1 912~3 450)g,体重≥2 500 g占59.1%（308例）。尿布相关250例（48.0%）,压力相关（包括医疗器械相关）81例（15.5%）,粘胶相关69例（13.2%）,各种理化因素相关70例（13.4%）,血管通路相关22例（4.2%）,外科手术相关性14例（2.7%）,其他15例（2.9%）。日龄1~7 d新生儿发生各类医源性皮肤损伤的占比最高;除压力相关性皮肤损伤易发生于极低出生体重儿、医源粘胶相关性皮肤损伤在各体重组都易发生之外,其他类型的皮肤损伤均多发生于体重≥2 500 g的新生儿;压力相关性、粘胶相关性皮肤损伤多发生于纠正胎龄28～32周的新生儿,血管通路相关性皮肤损伤在各纠正胎龄分组中的占比较均匀,其他皮肤损伤好发于纠正胎龄＞32周的新生儿;78.9%的医源性皮肤损伤发生时的住院时间＜1周,随着时间的推移,发生比例逐周下降。结论：我国NICU新生儿医源性皮肤损伤发生率为6.4%。尿布相关性皮炎、医疗器械应用及医疗胶布的使用是新生儿发生医源性皮肤损伤的三大主要因素。医源性皮肤损伤受胎龄、出生体重、各种导管的使用等多因素影响。     

Death in the neonatal intensive care unit: changing patterns of end of life care over two decades

BACKGROUND: Death remains a common event in the neonatal intensive care unit, and often involves limitation or withdrawal of life sustaining treatment. OBJECTIVE: To document changes in the causes of death and its management over the last two decades. METHODS: An audit of infants dying in the neonatal intensive care unit was performed during two epochs (1985-1987 and 1999-2001). The principal diagnoses of infants who died were recorded, as well as their apparent prognoses, and any decisions to limit or withdraw medical treatment. RESULTS: In epoch 1, 132 infants died out of 1362 admissions (9.7%), and in epoch 2 there were 111 deaths out of 1776 admissions (6.2%; p<0.001). Approximately three quarters of infants died after withdrawal of life sustaining treatment in both epochs. There was a significant reduction in the proportion of deaths from chromosomal abnormalities, and from neural tube defects in epoch 2. CONCLUSIONS: There have been substantial changes in the illnesses leading to death in the neonatal intensive care unit. These may reflect the combined effects of prenatal diagnosis and changing community and medical attitudes.     

Routine neonatal examination: effectiveness of trainee paediatrician compared with advanced neonatal nurse practitioner

OBJECTIVE: To compare the effectiveness of routine neonatal examination performed by senior house officers (SHOs) and advanced neonatal nurse practitioners (ANNPs). DESIGN: A prospective study of all infants referred to specialist orthopaedic, ophthalmology, and cardiology clinics. A standardised proforma was used to record details of the professional performing the neonatal check, any abnormalities discovered, source of ultimate referral to the specialist clinic, and specialist findings. RESULTS: 527 eligible infants were recruited. For hip abnormalities, ANNPs displayed greater sensitivity than SHOs (96% v 74%; p < 0.05). Similarly for eye abnormalities, ANNPs were more sensitive (100% v 33%; p < 0.05). There were no significant differences between ANNPs and SHOs in terms of positive predictive values or effectiveness of detecting cardiac abnormalities. There was no difference in underlying incidence of abnormalities between the two hospitals. CONCLUSION: ANNPs are significantly more effective in detecting abnormalities during the neonatal check. This has implications both for future workforce planning and current methods of medical training.     

Agreement of injury reporting between primary care medical record and maternal interview for children aged 0-3 years: implications for research and clinical care.

OBJECTIVE: To assess agreement of injury reporting between primary care medical record and maternal interview. METHODS: Cross-sectional study of data from a randomized controlled trial of home visiting. The setting was Hawaii's Healthy Start Program (HSP). Subjects comprised a population-based sample of children in at-risk families with 3 years of primary care medical records and maternal interviews (n = 443). Outcome measures were percentage of children injured unintentionally and mean number of injuries per child in the first 3 years of life by primary care medical record and maternal interview. RESULTS: We identified 490 injuries: 48% by primary care medical record, 22% by maternal interview, and 30% in both sources. More children were reported injured by primary care medical record than maternal interview (51% vs 39%, P< .001). The mean number of injuries per child was 0.87 by primary care medical record and 0.51 by maternal interview (difference 0.36, 95% confidence interval 0.27-0.45, P< .001). Agreement between data sources was fair (kappa = 0.47). CONCLUSIONS: This study estimates that 25% of childhood injuries may not be reported in the medical record, highlighting the need for reconsideration of the use of medical records as the gold standard for unintentional injury data. Caution should be used when interpreting injury data from one source, especially from families with stressful life situations. Poor communication regarding injuries between social service, primary care and urgent care providers may contribute to decreased quality of primary care and missed opportunities for injury prevention.     

"Shuttle sheet": a patient-held medical record for pediatric oncology families.

A patient-held medical record used by a pediatric oncology unit is described. Each patient's family is provided with a folder containing detailed information about the patient's current treatment. The record helps orient all health care workers involved in the patient's management to the treatment schedule, including exact doses of drugs. Details of blood counts and treatment given are entered by health care workers at each consultation, but the record is always retained by the family. The benefits of this record are that it saves time, reduces the likelihood of errors in scheduling and doses of cytotoxic drugs, and facilitates continuation of therapy at locations away from the supervising oncology unit. It reduces the amount of correspondence required for patient care, is a useful diary and treatment planner for the patient's family and hospital staff, and is an educational resource for the patient's family. It is a useful adjunct to the hospital's medical record for clinical trial data, is easily replaced if lost, and is inexpensive. It also assists surveillance of long-term survivors. The record is particularly valuable when used with patients who are being treated or assessed at more than one institution or by multiple health care workers. The record is in its 12th year of service and is used by more than 95% of patients on therapy attending the unit.     

Short-term outcome of mechanically ventilated infants weighing more than 2499 g at birth: A population based study*

Abstract: Very little data exist describing the neonatal outcome of infants of birthweight 2500 g or more who require mechanical ventilation. Our aim was to collect population-based data on such infants in New South Wales (NSW), and to monitor their neonatal morbidity, mortality to 1 year of age and the associated risk factors. The study group (NICUS infants) comprised all 341 infants weighing >2499 g who were admitted to the seven neonatal intensive care units in New South Wales and mechanically ventilated for 4 h or more between 1 January and 31 December, 1987. Two groups of infants emerged: those who were preterm and mostly had hyaline membrane disease, and term and post-term infants for whom the most common problem was ‘perinatal asphyxia’. The most important factors associated with dying were a birthweight of over 3499 g (OR = 2.6; CI 1.03–6.6) and a 1 min Apgar score <4 (OR = 4.8; C11.4–16.9). Study group mothers were significantly more likely than all NSW mothers to have had a spontaneous abortion in the previous pregnancy (P<0.01), a pre-existing medical condition or an obstetric complication in this pregnancy, or a Caesarean section for this delivery (P<0.001). This is the first population-based study of high-risk neonates without congenital anomalies to clearly document the worsening prognosis associated with a birthweight over 3499 g. Further research should be directed towards identifying prenatal and perinatal factors which might minimize the morbidity and mortality in this group of babies.     

The need for a universal method of quantifying severity of illness to allow accurate analysis of the results of treatment in neonatal surgical cases

Clinical audits must be based on good data and what is being reported must be clearly defined. Severity-of-illness scores (SOI) have been developed for newborns and neonates; neonatal surgical case reviews have to be stratified in this manner in the future. This assessment addresses risk to life (predicted mortality) estimated at the point immediately before surgical treatment. General neonatal cases are divided into group A: primary problem medical, complications require surgery; and group B: major malformations that require surgery. Risk categories are established using NTISS scores for group A patients. A new scoring method still to be validated is used in group B. The applicability of the suggested methods are tested using 50 patients with necrotising enterocolitis (group A) and 50 with oesophageal atresia/tracheo-oesophageal fistula (group B). This, a first attempt at stratifying surgical neonatal cases in this manner, illustrates the importance of refining clinical audits in this way. The further development of neonatal SOI risk scores and the utilisation of such tools in risk assessment in surgical patients is awaited.