Radiology of anorectal malformations: What does the surgeon need to know?

Imaging is extremely important throughout all phases of care provided to children with anorectal malformations (ARM). A preoperative determination of the patient specific malformation will help establish the operative plan. Moreover, the majority of ARM patients will have an associated anomaly that will require imaging workup for full understanding of those abnormalities prior to addressing the ARM. The complexity of ARM care will mandate continued imaging throughout the post-operative period even in those with straight forward malformations.     

Preduodenal portal vein and malrotation: what causes the obstruction?

AIM AND METHOD: Preduodenal portal vein is a rare congenital abnormality, and occurs either as a single malformation, in association with other malformations or as part of "polysplenia" syndrome. Preduodenal portal vein has seldom been reported as a cause of intestinal obstruction, however corrective surgery is nearly always performed. We conducted a 25-year retrospective study in a single centre to investigate the cause of obstruction in patients with preduodenal portal vein. Furthermore, we reviewed the literature on preduodenal portal vein. RESULTS: Over a period of 25 years, preduodenal portal vein was diagnosed in five patients. The diagnosis was made during surgery performed because of symptoms of high intestinal obstruction. All five patients had intestinal malrotation as well and, in all patients, another cause for high intestinal obstruction than preduodenal portal vein was found. CONCLUSION: Preduodenal portal vein is mainly asymptomatic. It is often associated with other intestinal congenital abnormalities more likely to cause high intestinal obstruction. Therefore, the (paediatric) surgeon should always be alert for another associated cause of intestinal obstruction. Because of the potential for technical problems from preduodenal portal vein during surgery, it nevertheless should be on the surgeon's mind during surgery when the patient has high intestinal obstruction.     

Antenatal imaging: does the postnatal impact justify the effort?

This review explores what is already understood about antenatal diagnosis of a variety of conditions, including Down syndrome, what progress has been made in this field, the role that imaging plays in the diagnostic pathway and the impact on management of pregnancies and the parental decision process. An overview of future potential developments is also made.     

The sudden infant death syndrome gene: does it exist?

BACKGROUND: Sudden infant death syndrome (SIDS) is in a difficult position between the legal and medical systems. In the United Kingdom, prosecutors have for years applied the simple rule that 1 unexpected death in a family is a tragedy, 2 are suspicious, and 3 are murder. However, it seems that the pendulum has now swung to the opposite extreme; mutations or polymorphisms with unclear biological significance are accepted in court as possible causes of death. This development makes research on genetic predisposing factors for SIDS increasingly important, from the standpoint of the legal protection of infants. The genetic component of sudden infant death can be divided into 2 categories, ie (1) mutations that give rise to genetic disorders that constitute the cause of death by themselves and (2) polymorphisms that might predispose infants to death in critical situations. Distinguishing between these 2 categories is essential, and cases in which a mutation causing a lethal genetic disorder is identified should be diagnosed not as SIDS but as explained death. GENETIC ALTERATIONS THAT MAY CAUSE SUDDEN INFANT DEATH: Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. However, <1% of sudden infant death cases investigated have this mutation, and findings of biochemical profiles seen in specific fatty acid oxidation disorders in a number of such cases emphasize the importance of investigating fatty acid oxidation disorders other than MCAD deficiency. Severe acute hypoglycemia may cause sudden death among infants, but only rare novel polymorphisms have been found when key proteins involved in the regulation of blood glucose levels are investigated in cases of SIDS. The long QT syndrome (LQTS) is another inherited condition proposed as the cause of death in some cases of sudden infant death. The LQTS is caused by mutations in genes encoding cardiac ion channels, and mutations in the genes KVLQT1 and SCNA5 have been identified in cases initially diagnosed as SIDS, in addition to several polymorphisms in these 2 genes and in the HERG gene. In addition, genetic risk factors for thrombosis were investigated in a small number of SIDS cases; the study concluded that venous thrombosis is not a major cause of sudden infant death. GENE POLYMORPHISMS THAT MAY PREDISPOSE INFANTS TO SUDDEN INFANT DEATH UNDER CERTAIN CIRCUMSTANCES: Many SIDS victims have an activated immune system, which may indicate that they are vulnerable to simple infections. One reason for such vulnerability may be partial deletions of the complement component 4 gene. In cases of SIDS, an association between slight infections before death and partial deletions of the complement component 4 gene has been identified, which may indicate that this combination represents increased risk of sudden infant death. There have been a few studies investigating HLA-DR genotypes and SIDS, but no association has been demonstrated. The most common polymorphisms in the interleukin-10 (IL-10) gene promoter have been investigated in SIDS cases, and the ATA/ATA genotype has been reported to be associated with both SIDS and infectious death. The findings may indicate that, in a given situation, an infant with an unfavorable IL-10 genotype may exhibit aberrant IL-10 production, and they confirm the assumption that genes involved in the immune system are of importance with respect to sudden unexpected infant death. Another gene that has been investigated is the serotonin transporter gene, and an association between the long alleles of this gene and SIDS has been demonstrated. Serotonin influences a broad range of physiologic systems, as well as the interactions between the immune and nervous systems, and findings of decreased serotonergic binding in parts of the brainstem, together with the findings in the serotonin transporter gene, may indicate that serotonin plays a regulatory role in SIDS. It has also been speculated that inadequate thermal regulation is involved in SIDS, but investigations of genes encoding heat-shock proteins and genes encoding proteins involved in lipolysis from brown adipose tissue have not found evidence of linkages between common polymorphisms in these genes and SIDS. A number of human diseases are attributable to mutations in mitochondrial DNA (mtDNA), and there are several reasons to think that mtDNA mutations also are involved in SIDS. Both a higher substitution frequency and a different substitution pattern in the HVR-I region of mtDNA have been reported in SIDS cases, compared with control cases. A number of coding region mtDNA mutations have also been reported, but many are found only in 1 or a few SIDS cases, and, to date, no predominant mtDNA mutation has been found to be associated with SIDS. CONCLUSIONS: All mutations giving rise to metabolic disorders known to be associated with life-threatening events are possible candidates for genes involved in cases of sudden infant death, either as a cause of death or as a predisposing factor. It is necessary to distinguish between lethal mutations leading to diseases such as MCAD and LQTS, and polymorphisms (for instance, in the IL-10 gene and mtDNA) that are normal gene variants but might be suboptimal in critical situations and thus predispose infants to sudden infant death. It is unlikely that one mutation or polymorphism is the predisposing factor in all SIDS cases. However, it is likely that there are "SIDS genes" operating as a polygenic inheritance predisposing infants to sudden infant death, in combination with environmental risk factors. For genetically predisposed infants, a combination of, for instance, a slight infection, a prone sleeping position, and a warm environment may trigger a vicious circle with a death mechanism, including hyperthermia, irregular breathing, hypoxemia, and defective autoresuscitation, eventually leading to severe hypoxia, coma, and death.     

Inguinal hernias in premature babies: wait or operate?

There are several contentious issues in the management of inguinal hernias in premature neonates. They include the timing of surgery, the management of incarceration, the role of routine contralateral groin exploration and the type of anaesthesia. In this article we re-emphasize the importance of delaying surgery until the baby is ready for discharge from the neonatal unit. Regular examinations and manual reduction of these hernias should be performed in order to detect incarcerations early. Conclusion: With this approach, it may be possible to minimize the morbidity resulting from incarceration, and at the same time avoid the respiratory and testicular complications resulting from an early surgical/anaesthetic intervention.     

The neutropenic diet: what's the evidence?

Despite improved survival of children with cancer, opportunistic infections remain a significant cause of morbidity and mortality in this population. Several interventions have been tried to decrease the incidence of infection by reducing patients' exposure to bacteria during neutropenia. The neutropenic diet is one such intervention that was intended to limit the introduction of bacteria into the host's gastrointestinal tract. The only studies evaluating this diet have used this strategy in combination with multiple other interventions, and the independent effect of this diet remains unknown. More research about the neutropenic diet is needed to establish its effectiveness in clinical practice.     

An 18?years�� review of exomphalos highlighting the association with malrotation

Introduction  

This was a retrospective 18 years’ review of infants with exomphalos with particular attention to its association with malrotation.     

Primary congenital bladder diverticula: Where does the ureter drain?

Background:

Primary congenital bladder diverticulum (PCBD) is related to a deficient detrusor layer allowing out-pouching of the bladder mucosa through the inadequate muscularis wall. We aimed to review our experience with symptomatic PCBD in order to correlate clinical findings with anatomical aspects and to present late outcome.

Materials and Methods:

We reviewed all patients operated in our institution since 2004. We evaluated the charts for complaints, radiological exams, method of treatment, complications and length of follow-up.

Results:

We treated 10 cases (11 renal units - [RU]), predominantly males (9/10), mean age at surgery of 5.3 years. All patients had significant urological complaints presenting either with antenatal hydronephrosis (4) or febrile urinary tract infection (5) and urinary retention in one. The ureter was found implanted inside the diverticulum in 8/11 RU. An extravesical psoas-hitch ureteroneocystostomy and diverticulum resection was performed in 10/11 cases, whereas 1 case was treated intravesically based on surgeon''s preference without performing cystoscopy. Mean follow-up was 34.1 months (1-120) without complications.

Conclusions:

PCBD is an uncommon diagnosis and has a high probability of drainage inside the diverticulum (72.7%). We recommend the extravesical approach associated with diverticulectomy and ureteroneocystostomy as the preferred technique to treat this abnormality.Key words: Bladder, diverticula, infection, paediatric, voiding dysfunction     

Congenital duodenal obstruction: does prenatal diagnosis improve the outcome?

Prenatal diagnosis of congenital duodenal obstruction (CDO) provides information about associated anomalies; helps plan the delivery, resuscitation, and neonatal surgery; and allows for appropriate family counseling. This report compares the outcomes of two groups of newborns: one with prenatal diagnosis of CDO (group I) and the other without (group II). Charts of the 23 newborns with CDO admitted to the Hospital of UNICAMP between 1993 and 2001 were retrospectively reviewed. Ten (44%) newborns had prenatal diagnosis of CDO. Among group I patients, the postnatal diagnosis was confirmed on the 1st day of life, whereas patients without prenatal diagnosis (group II) had the diagnosis of CDO confirmed at a mean age of 5.7 days (p=0.004). The mean ages at surgery, at total oral feeding, and at hospital discharge were also statistically lower among infants with prenatal diagnosis, and more complications occurred in group II patients. The earlier care could explain the statistically lower morbidity for patients with prenatal diagnosis, since they were able to undergo further investigation and surgical repair before any impairment to their clinical status could take place. We believe that prenatal diagnosis of CDO, associated with earlier surgery and adequate postoperative support, can provide lower morbidity, decrease the hospitalization period, and, therefore, decrease its costs to the state and to society.