Congenital hemihypertrophy and pheochromocytoma,not a coincidental combination?

We describe a 19-year-old female, known to have congenital hemihypertrophy, who presented with bilateral benign pheochromocytoma. This is the second time that this combination has been reported in the literature. We speculate that the combination of congenital hemihypertrophy and pheochromocytoma is not coincidental and could be part of the clinical spectrum of the Beckwith-Wiedemann syndrome. CONCLUSION: in patients with congenital hemihypertrophy, the physician should be aware of the symptoms of pheochromocytoma. Besides screening for abdominal tumours, analysis of plasma and/or urinary catecholamines and/or their metabolites should be considered.     

Portal hypertension after combined liver and intestinal transplantation,a diagnostic and therapeutic challenge?

Monbaliu D, Vandersmissen J, De Hertogh G, Van Assche G, Hoffman I, Knops N, Debbaut C, Heye S, Pirenne J, Maleux G. Portal hypertension after combined liver and intestinal transplantation, a diagnostic and therapeutic challenge?
Pediatr Transplantation 2012: 00: 000–000. © 2012 John Wiley & Sons A/S. Abstract: A widely accepted technique to transplant the liver‐bowel bloc is first to perform a piggyback anastomosis of the donor suprahepatic vena cava to the recipient vena cava; second to restore the arterial blood supply through an aortic interposition graft; and third to ensure venous drainage of the native foregut. The venous drainage of the native foregut can be restored through an end‐to‐end portocaval anastomosis between the donor infrahepatic vena cava and the recipient portal vein. Stenosis of this anastomosis can lead to portal hypertension presenting with upper GI congestion, bleeding, and hypersplenism. We report the successful treatment of this complication using an e‐PTFE‐covered stent inserted following balloon angioplasty.     

Mycoplasma pneumoniae, splenic infarct, and transient antiphospholipid antibodies: a new association?

We report 2 children with Mycoplasma pneumoniae pulmonary infection with splenic infarcts and transient antiphospholipid antibodies. This association has not been reported previously.     

Adolescent immunizations and other clinical preventive services: a needle and a hook?

Advances in technology have led to development of new vaccines for adolescents, but these vaccines will be added to a crowded schedule of recommended adolescent clinical preventive services. We reviewed adolescent clinical preventive health care guidelines and patterns of adolescent clinical preventive service delivery and assessed how new adolescent vaccines might affect health care visits and the delivery of other clinical preventive services. Our analysis suggests that new adolescent immunization recommendations are likely to improve adolescent health, both as a "needle" and a "hook." As a needle, the immunization will enhance an adolescent's health by preventing vaccine-preventable diseases during adolescence and adulthood. It also will likely be a hook to bring adolescents (and their parents) into the clinic for adolescent health care visits, during which other clinical preventive services can be provided. We also speculate that new adolescent immunization recommendations might increase the proportion and quality of other clinical preventive services delivered during health care visits. The factor most likely to diminish the positive influence of immunizations on delivery of other clinical preventive services is the additional visit time required for vaccine counseling and administration. Immunizations may "crowd out" delivery of other clinical preventive services during visits or reduce the quality of the clinical preventive service delivery. Complementary strategies to mitigate these effects might include prioritizing clinical preventive services with a strong evidence base for effectiveness, spreading clinical preventive services out over several visits, and withholding selected clinical preventive services during a visit if the prevention activity is effectively covered at the community level. Studies are needed to evaluate the effect of new immunizations on adolescent preventive health care visits, delivery of clinical preventive services, and health outcomes.     

MMR: marginalised,misrepresented and rejected? Autism: a focus group study

Objective

To explore how the measles, mumps, and rubella (MMR) vaccine controversy impacted on the lives of parents caring for children with autism.

Design

Qualitative focus group study.

Setting

United Kingdom.

Patients

A purposively selected sample of 38 parents took part in 10 focus group discussions between March 2003 and May 2005.

Results

Many parents felt that the MMR vaccine could be too potent for children who are susceptible to developing autism. Of the parents whose children received the MMR vaccine, many felt guilty that they may have caused or contributed to their child''s autism. Some parents felt frustrated by health professionals'' lack of understanding of the negative impact the MMR controversy has had on them. Some parents were anxious about subsequent MMR decision‐making for their children.

Conclusions

The controversy has had a negative impact on some parents of children with autism. This has implications for health professionals, who need to be particularly aware of the issues these parents face in future MMR decision‐making for their affected child and younger siblings. It is anticipated that these findings will raise awareness among health professionals of the difficulties faced by such parents. More generally, there is a need to promote a greater awareness of the important role health visitors can play in parental decision‐making and for research examining whether health professionals feel they receive sufficient training in communication skills. It is also essential that the latest scientific research findings are disseminated quickly to these parents and to those health professionals advising parents on matters of vaccine safety.The combined measles, mumps, and rubella (MMR) vaccine was introduced in the United Kingdom (UK) into the routine childhood immunisation programme in 1988, replacing the monocomponent measles vaccine, in order to eliminate measles, mumps and rubella and its associated congenital rubella syndrome.^1,2,3 By the early 1990s, MMR coverage for 2 year old children exceeded 90% nationally.⁴ However, just as rates of measles notification were reaching an all time low, speculation about the safety of the vaccine began to emerge. In February 1998, a paper was published postulating a link between the MMR vaccine, bowel disease and autism.⁵ Wakefield and colleagues hypothesised that the vaccine caused inflammation of the gut making it more permeable, permitting peptides to leak out, which in turn were said to act as toxins on the brain causing serious developmental disorders (including autism). The paper sparked immediate criticism and concern,^6,7,8,9 and researchers were quick to test Wakefield''s hypothesis. However, subsequent scientific support has been absent,^10,11 and further experiments designed to identify the measles virus in intestinal tissue¹² or blood¹³ have failed to find vaccine viruses. Furthermore, researchers have been unable to identify significant intestinal inflammation post‐vaccination¹⁴; large epidemiological studies have found no evidence of a new form of autism associated with MMR^15,16; there is no evidence of an increased incidence of autism related to the uptake of the MMR or measles vaccines^17,18; studies investigating severe adverse reactions to the MMR vaccine conducted in Finland^19,20 have failed to identify bowel problems or autism following vaccination; and a recent Cochrane review concluded that exposure to MMR was unlikely to be associated with autism.²¹

Box 1 Examples of parents comparing the general health of their children with and without autism

“they''re like chalk and cheese, she''s a much stronger child, she, she never had a thing where he was just sickly from day one. He''s always been a sickly child… he was always covered in spots, he was always on antibiotics, he always had tonsillitis, erm… he''s always had bowel problems, em…. He''s always had loads and loads of antibiotics. He''s got asthma and eczema, erm, so he''s always been on creams and lotions and potions and God knows what else. He''s got food allergies.… He''s very, very sensitive to whatever goes in his body. But as for our daughter she''s a much stronger child.” (G3: P9)“… his immune system is shot to pieces…. He, he does seem to be one of these children who follows the, the path for antibiotics and then vaccinations and then autism. When he gets a cough or a cold he seems to have it much, much longer whereas my other son can carry on functioning and going to school. But he just gets really ill… it puts him into hospital…. I actually asked the consultant before he discharged him last time. I said ‘you know, he does seem to be poorly a lot of the time, you know and he does have autism and I think there''s a link between his autism and his immune system'' and the consultant said ‘no, that''s absolutely not true, there''s no correlation between autism and the immune, his immune system''. He dismissed it – so I said ‘well okay'' but I just felt that I had to say something.” (G10: P36)Despite government and public health officials acting quickly to reassure parents that the MMR vaccine was not associated with autism, vaccine uptake dropped following the widespread media coverage of the MMR vaccine controversy (see: http://www.hpa.org.uk/infections/topics_az/vaccination/071102_MMRpreferable.htm). Recent research has investigated parents'' reasons for refusing the MMR vaccine and their perceptions of the MMR controversy. Evans and colleagues suggested that for many parents it is easier to live with the risk of their child naturally contracting one of the diseases than with the risk of causing their child damage through vaccination,²² a finding reminiscent of previous work on omission bias.^23,24 Raithatha et al²⁵ highlighted how parents'' assessment of vaccine risk is influenced by their attitudes to the immunisation process as well as by the degree of trust they have in government and health professionals. They warned that the MMR controversy may have triggered a broader reappraisal of vaccine risk, and proposed that in order to address parents'' fears about a causal link between autism and the MMR vaccine, further research into the aetiology of autism should be conducted. This was echoed in the recommendations from the Medical Research Council''s (MRC) review of autism research.²⁶Despite this growing evidence base on parental views of decision‐making about MMR,^22,23,24 there is a notable absence of scientific research reporting the views of one crucial group of parents, namely those caring for children with autism. To date their stories have been represented by journalists^27,28 or through a few books in which parents offer their personal accounts.^29,30,31,32 Horton³³ asserted that parents of children with autism: “… have become an even more marginalized group in the high‐temperature debate over Wakefield''s work” (p 92).

Box 2 Example of a mother recalling an adverse reaction to MMR vaccination

“He was ill. You know, when they''re really, really poorly and they''ve a temperature and they''ve just got that look of, I''m not here, that''s scary as a parent, you''re scared. And then when he finally kind of awoke, you know, he had the deadest eyes, it was like all the life had gone from his eyes. It was like before he was like a wee boy, twinkly eyes and after it, it was like the same eyeballs but as if, the glare had been taken out of them or something.” (G1: P1)Since the putative link with autism was central to the MMR controversy, it is important to understand the views of parents of children with autism both in terms of the impact of the controversy on them, and in determining whether the controversy has given rise to particular needs for information and support. We undertook a study to elicit the views of this neglected group of parents to develop a better understanding of how the MMR controversy impacted upon their lives, and to discover whether their experience can provide lessons for future immunisation policy and practice.     

Rash, fever, and neck pain in the office: is this a neurologic emergency?

Anticonvulsants, neuroleptics, and antispasticity agents are used with increasing frequency in the pediatric population. Each of the drugs discussed in this article has serious but potentially reversible adverse effects. Pediatric primary care providers must be aware of the potential emergencies associated with the use of these neurologic medications to provide prompt and effective treatment.     

Is urorectal septum malformation sequence a variant of the vertebral defects,anal atresia,tracheo-oesophageal fistula,renal defects and radial dysplasia association? Report of a case and a review of the literature

The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. Conclusion:Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.     

Can you hear me now? Tools for cultivating a culture of respect,value, and appreciation within pediatric hematology,oncology, and cellular therapy

The American Society of Pediatric Hematology/Oncology (ASPHO) conducted a workshop “Can you hear me now? Cultivating a culture of respect, value, and appreciation within pediatric hematology/oncology” at their annual meeting in May 2022 in hopes of exploring how the members can enhance wellness in a climate of increasing diversity. Initiatives in the past have focused on personal care, but it has been widely shown that administrative and institutional driven initiatives are essential to create an environment of wellness. In this interactive workshop, we discovered that 22% of participants felt their institution does not instill a culture of respect. We offered tools to the audience on multiple levels: graceful self-promotion, diversity and inclusion, and leadership perspective on creating a culture of respect to address the individual, local community, and top-down leadership approaches. Here, we offer a summary on the content of the workshop, and expand upon many of the discussion points that were raised during the workshop. We bring forth novel information on each topic individually from diverse points of view, specific to the field of pediatric hematology/oncology (PHO). We aim to highlight the importance of creating a diverse and respectful work environment in PHO in hopes of ensuring motivated, satisfied, and fulfilled healthcare providers who feel appreciated and valued.     

Siblings with development delay,mild spasticity and subcortical cysts: a further leukoencephalopathy?

We present a family with mild neurological symptoms and intra-cerebral subcortical cysts on magnetic resonance imaging (MRI). Common clinical features are microcephaly, learning difficulties, spasticity, dyspraxia and restricted movements of the neck and shoulder. The family has features in common with vacuolating leukoencephalopathy of van de Knaap and Olivier and may represent a new variant.