Paediatricians’ views on smacking children as a form of discipline

Smacking children as a form of discipline is controversial. This study examined British Paediatricians’ views on smacking. We found that their views varied and may be influenced by their personal experiences. This may affect their decision to investigate suspected child abuse and the advice given to parents. More teaching for doctors is required on alternative disciplinary methods.     

Current status of Hirschsprung’s disease: based on a nationwide survey of Japan

Purpose

The diagnosis and surgical treatments of Hirschsprung’s disease (HD) have undergone various changes in the last few decades because of establishment of laparoscopic procedures. A retrospective nationwide survey for 4 decades was performed to study the changing profile of HD in Japan.

Methods

The patient data were collected in 4 phases: Group 1, between 1978 and 1982; Group 2, between 1988 and 1992; Group 3, between 1998 and 2002; and Group 4, between 2008 and 2012.

Results

The incidence and the male/female ratio remained almost the same over time (1/4, 895 in newborns and 2.9:1 in Group 4). The patients with a family history increased to 7.1% in Group 4, in comparison to 2.8–6.0% in other groups. Regarding the extent of aganglionosis, sigmoid colon increased to 63.1% in Group 4, compared to 51.9% in Group 3. Manometry was performed less frequently in Group 4 (45.8%) than in Group 3 (66.1%). Transanal endorectal pull-through (TAEPT) was the most popular operation in Group 4 (49.6%). In addition, laparoscopy-assisted operations increased to 46.9% in Group 4, in comparison to 29.7% in Group 3. The incidence of preoperative enterocolitis and the mortality rate in Group 4 were 17.2% and 2.4%, respectively, and were markedly decreased in comparison to Group 1 (29.2% and 6.5%, respectively). The mortality rate decreased over time to 2.4% in Group 4. Over the last decade, there has been remarkable improvement in the mortality rate associated with the small intestine (aganglionosis extending orally to more than 30 cm of the terminal ileum). The rates were 25.5% in Group 4, 53.6% in Group 1, 33.3% in Group 2, and 35.5% in Group 3. In addition, the mortality rates of the remaining aganglionosis subgroups also improved.

Conclusion

Primary operations without laparotomy, including TAEPT and laparoscopy-assisted operations, have become the first choice for the definitive surgical treatment of HD in Japan. The mortality rate has decreased over time. However, the mortality rate of small intestinal aganglionosis is still relatively high. The development of new treatment strategy for small intestinal aganglionosis is called for.

     

Intermittent growth attenuation: is this a sign of craniopharyngioma?

We present two young children eventually diagnosed with large craniopharyngiomas, who had a normal growth velocity for several years following an initial short period of growth attenuation. These cases suggest the need for a low threshold to undertake hormonal evaluation of patients who present with a past history of growth attenuation.     

Commentary: State of transitional care for emerging adults – reflections on Anderson et al.

Transitional care at the boundary between child/adolescent and adult mental health services has received increased research attention over the past decade, many studies revealing similar unsatisfactory findings. The needs of service users and their parents/carers are the same across the world, and they are not being met. Outdated organisational structures and training agendas contribute to the difficulties at the boundary, which marks the end of specialist care for most young people attending child/adolescent mental health services. The review by Anderson et al. summarises the latest research in this area.     

Paediatric Behçet disease manifested as recurrent myositis: from an incomplete to a full-blown form

A 12-year-old boy presented with a limp and findings suggesting localised myositis of his right calf and a working diagnosis of Behçet disease was made. During 3 years of follow-up, he had another three episodes of calf myositis, all responsive to corticosteroids within days. Conclusion A case of recurrent localised myositis as a main manifestation of Behçet disease is reported. The evolution of incomplete Behçet disease, which is common in children, to the full blown form, with the emphasis on muscle involvement and the importance of early diagnosis of Behçet disease, is discussed.     

The association between Hirschsprung’s disease and multiple endocrine neoplasia type 2a: a systematic review

Purpose

The co-occurrence of Hirschsprung’s disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the presence of a “Janus” mutation in the RET proto-oncogene––a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. To date, four mutations in the exon 10 region of RET that are known to cause MEN2A have been implicated in this association: C620, C618, C611 and C609. We performed a systematic review of the published literature on this association to determine its incidence, the prevalence and phenotype of HSCR associated with the 4 RET mutations mentioned above.

Methods

A systematic literature-based search for relevant articles was conducted using three online databases. After exclusion of ineligible publications, we recorded data on all patients with a diagnosis of HSCR or MEN2A with a “Janus” RET mutation, as well as those who carried the mutation but were unaffected. Statistical analysis was performed using SPSS.

Results

The literature search yielded 885 publications, of which 36 articles, incorporating data on 341 individuals, were eligible for inclusion in the final analysis. Co-occurrence of HSCR and MEN2A was recorded in 84 cases (24.6 %). HSCR occurred alone in 64 carriers of a “Janus” mutation (18.8 %) and MEN2A occurred in isolation in 173 cases (50.7 %). Twenty individuals (5.9 %) were found to carry a “Janus” mutation after screening on the basis of family history but were unaffected by either MEN2A or HSCR. The most common mutation recorded was the C620 mutation [114 cases (48.1 %)]. There was a relatively high incidence of long-segment aganglionosis (29.3 %) and total colonic aganglionosis (17.3 %) in this cohort. This trend was particularly notable in those with C620 mutations, only 33 % of whom had short-segment disease.

Conclusion

While the overall incidence of HSCR co-occurring with MEN2A is low, both conditions occur with a relatively high frequency in families with a RET mutation at exon 10. The proportion of cases of long-segment HSCR and total colonic aganglionosis is higher than that in the general population with HSCR in those with C620 and C618 mutations. These findings re-inforce the importance of RET mutation testing in HSCR when a family history of either HSCR or MEN2 is present. In families with MEN2A and known exon 10 RET mutations, the threshold for investigation for HSCR in those with gastrointestinal symptoms should be very low. High-quality prospective longitudinal studies of large HSCR populations are required to shed greater light on this rare but important phenomenon.     

Effect of hepatocyte growth factor on mice with hypoxic pulmonary arterial hypertension: a preliminary study北大核心CSCD

目的 探讨肝细胞生长因子（hepatocyte growth factor,HGF）在低氧性肺动脉高压（hypoxic pulmonary arterial hypertension,HPAH）小鼠中与治疗反应的关系,探索其成为治疗HPAH靶向药物新思路的可能性。 方法 将构建成功的HPAH模型小鼠随机分为HPAH组、HGF治疗组（重组小鼠HGF,1 mg/kg,尾静脉注射）,另设置正常对照组,每组10只。5周后,采用心脏超声测定各组小鼠的三尖瓣峰值流速、右心室收缩压、右心室肥厚指数、右心室/体重比值;采用Griess法测定小鼠血清中一氧化氮含量;采用ELISA法检测小鼠血清中内皮素-1水平;采用透射电镜观察小鼠肺动脉超微结构改变。 结果 HPAH组三尖瓣峰值流速、右心室收缩压、右心室肥厚指数、右心室/体重比值均显著高于HGF治疗组及正常对照组（P<0.05）。透射电镜观察到HPAH组血管内皮细胞被大量破坏,小动脉内膜弹力膜排列紊乱,有断裂及缺失;HGF治疗组血管内皮细胞结构基本完整,动脉内膜弹力膜结构基本正常。HPAH组小鼠血清一氧化氮和内皮素-1水平显著高于正常对照组和HGF治疗组（P<0.05）。 结论 提高血清HGF水平可有效缓解HPAH对小鼠心血管系统的影响,其机制可能与修复内皮细胞损伤,改善血管重构,恢复肺血管正常舒缩功能有关。     

Bile acid pneumonia: a "new" form of neonatal respiratory distress syndrome?

We describe 3 cases of neonatal respiratory distress syndrome (RDS) in near-term infants, born from mothers with severe intrahepatic cholestasis of pregnancy. Common pictures of the cases were: good indices of lung maturity in the amniotic fluid; severe RDS requiring mechanical ventilation; high serum bile acid (BA) levels in the early days of life; no meconium aspiration; negative cultures; and absence of indirect laboratory signs of infection. After the first case, we hypothesized that abnormally high BA levels could have reversed the action of phospholipase A2 in the lungs, causing a degradation of phosphatidylcholines to lysophosphatidylcholines and the consequent lack of surfactant activity, leading to the severe respiratory distress. Consequently, in cases 2 and 3, we gave intratracheal surfactant to the infants, which, although administered around the first 24 hours of life, showed to be helpful. Our experience suggests that a high level of attention in the management of newborn infants (even near-term infants) born from women with intrahepatic cholestasis of pregnancy is necessary to detect as soon as possible signs and symptoms of this "unexpected" RDS, which can assume a very severe clinical picture. In such instances, we recommend that the diagnosis of BA pneumonia be kept in mind and that exogenous surfactant be given as soon as possible, even in the presence of indices of normal lung maturity in the amniotic fluid. Finding high levels of BA and lysophosphatidylcholines in the bronchoalveolar lavage of affected infants would aid in support of the diagnosis.     

Crohn’s disease in a Meckel’s diverticulum: report of a case

Meckel’s diverticulum has previously been reported to be present in patients with Crohn’s disease. However, the finding is typically an incidental one, and involvement of the diverticulum in the disease process is uncommon. We report a case of an adolescent with known Crohn’s disease who presented with symptoms thought to be due to terminal ileitis. At the time of laparoscopy the inflammation was found to be due to involvement of the Meckel’s diverticulum with Crohn’s disease.     

Pulmonary veno-occlusive disease: a misnomer?

Pulmonary veno-occlusive disease (PVOD) is a rare entity with non-specific signs and symptoms and is nearly always associated with a dismal prognosis. This review will first consider pulmonary hypertension in general and then will focus on PVOD specifically with particular attention to the pathophysiology of the disease. Classically PVOD is described as a disease primarily involving obstructed venules, with the arterial side of the circulation involved to a lesser degree. This article discusses the demographics of affected individuals; the ways in which an accurate diagnosis can be made, including imaging features; predisposing diseases and associated disorders; and potential treatment.     

The ratio of second to fourth digit lengths: a marker of impaired fetal growth?

BACKGROUND: Epidemiological studies showing that impaired fetal growth has long-term adverse health consequences have depended on crude measures of fetal growth such as overall weight or length. For future studies, there is a need to develop improved morphological markers of fetal growth which persist into adult life. Recent studies have suggested that the ratio of the length of the second finger relative to the length of the fourth finger (2D:4D ratio) is determined during fetal life and may be such a marker. AIMS: To determine whether the 2D:4D ratio is associated with size at birth. DESIGN: Cohort study. SUBJECTS: 139 men and women born in Preston, Lancashire between 1935 and 1943. OUTCOME MEASURES: Measurements of the 2D:4D ratio in palm prints. RESULTS: Men who had an above average placental weight and a shorter neonatal crown-heel length had higher 2D:4D ratios in adult life. CONCLUSIONS: These preliminary findings lend support to the hypothesis that the 2D:4D ratio is determined during fetal life.