An XYY boy with short stature and a case of Klinefelter's syndrome (XXY) in a family with inversion 9

A patient with Klinefelter's syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9. An unusual feature of the XYY patient was that he presented because of short stature and disturbed behaviour. A family study showed that the patients were related and that there was an excess of males in the pedigree. Another member of the family was found to have some XYY cells in the blood.     

A prospective randomized trial demonstrating valved implantable ports have fewer complications and lower overall cost than nonvalved implantable ports

BACKGROUND: The purpose of the current study was to evaluate whether a totally implanted valved subcutaneous port system would have fewer complications as compared to a standard nonvalved port. METHODS: Study subjects requiring port placement were randomized to receive a valved port (PASV; Boston Scientific, Natick, MA) or a nonvalved port (BardPort; Bard Accesss Systems, Salt Lake City, UT). Each port was placed with standard operative technique. Difficulty with blood return, excess time spent accessing the port, and required interventions were reported over the initial 180 days of port usage. RESULTS: Seventy-three patients were randomized to receive either a valved port (n = 37) or a nonvalved port (n = 36). No major complications were identified from port placement, and there were no differences in rates of infection between the 2 ports. A reported inability to withdraw blood was noted in the valved port group on 21 of 364 (5.8%) port accessions and in the nonvalved port group on 37 of 341 (11%) accessions (P = 0.02). Significantly more total time was spent ensuring adequate blood draw from nonvalved ports as opposed to valved ports (750 minutes vs. 1545 minutes, respectively) (P <0.03). CONCLUSIONS: This study revealed that the PASV valved port is associated with significantly fewer instances of poor blood return and less nursing access time, indicating that a port with a PASV valve may be superior to a nonvalved device.     

Colonic transit time--what is normal?

Background

Constipation is a common problem in childhood, and various radiologic methods have been advocated for investigation. Colonic transit time (CTT) has been used in adults to investigate colonic motility, but few studies evaluate this method in children. Data on CTT in the normal paediatric population are scarce.

Methods

The colonic transit time was measured in 22 healthy children (median age, 10 years; range, 4 to 15 years) by Abrahamsson’s method. Children took bolus ingestions of radiopaque markers on 6 consecutive days, and on day 7 a single abdominal x-ray was performed. This was evaluated for total and segmental colonic transit time.

Results

The mean total CTT was 40 hours, and the upper limit of normal (95th percentile) was 84 hours. The upper limit of normal for segmental transit time was as follows: 14 hours for the ascending, 33 hours for the transverse, 21 hours for the descending, and 41 hours for the rectosigmoid colon.

Conclusions

CTT provides an objective measure to assess childhood constipation. To date, 6 studies using 5 different methods have been published reporting values for healthy children. Comparing these, Abrahamson’s method has low radiation exposure and is well tolerated. This study contributes additional normal values in children.     

Comparison of functional outcomes of Duhamel and transanal endorectal coloanal anastomosis for Hirschsprung's disease

Purpose

The aim of this study was to determine the morbidity and medium-term functional outcome of the Duhamel operation and laparotomy and transanal endorectal coloanal anastomosis (TECA) for Hirschsprung’s disease (HSCR).

Methods

The study populations were 34 consecutive children who underwent the Duhamel operation (or Lester Martin modification) and 37 who had the TECA. Demographic details were obtained by case note review, and functional outcome was determined by a combination of outpatient interview, questionnaire, and telephone enquiry.

Results

There was no difference between the groups with respect to age, gender, and length of aganglionic segment. Seventy percent presented as neonates (Duhamel, 24 of 34; TECA, 26 of 37). A single-stage primary pull-through was performed in 17 of 37 children in the TECA group, and in 1 of 34 from the Duhamel group. There was a single perioperative death in the Duhamel group and an unrelated, late death in the TECA group. Postoperative enterocolitis was seen in 13 of 37 TECA children and in a single child from the Duhamel group. A stricture of the pull-through segment was seen in 7 of 37 children after TECA and required temporary diversion in 2 of 9. Late division of a rectal spur was required in 6 of 33 Duhamel children. Requirement for late myectomy was the same in both groups (Duhamel 3 of 33, TECA 4 of 37). Complications requiring stoma formation occurred in 5 of 37 after TECA and 2 of 33 after the Duhamel operation. Two children from the TECA group and 1 from the Duhamel group remain diverted. One child from each group required a re-pull-through procedure. Two patients were lost to follow-up in the TECA group, leaving 34 children in this group and 33 in the Duhamel group in whom functional outcome could be assessed. Functional outcome was similar in the 2 groups.

Conclusions

TECA and Duhamel procedures have similar medium-term functional outcomes. TECA has a high incidence of postoperative enterocolitis and transient stricture formation but is suitable for single-stage neonatal treatment of HSCR.