Dystroglycanopathies: coming into focus.

A common group of muscular dystrophies is associated with the aberrant glycosylation of α-dystroglycan. These clinically heterogeneous disorders, collectively termed dystroglycanopathies, are often associated with central nervous system and more rarely eye pathology. Defects in a total of eight putative and demonstrated glycosyltransferases or accessory proteins of glycosyltransferases have been shown to cause a dystroglycanopathy phenotype.

Severe bronchomalacia treated by combination of Nuss procedure and aortopexy: an unusual therapy combination.

Aortopexy is the treatment of choice for clinically significant tracheobronchomalacia from external vascular compression. When a marked chest depression is present, aortopexy may be less effective. We report 2 patients with pectus excavatum and vascular compression of the trachea who, despite their young age, benefited from combined Nuss bar insertion and aortopexy.

Aortopexy for persistent tracheal obstruction after double aortic arch repair.

Persistent respiratory symptoms often occur after double aortic arch (DAA) repair but rarely require a second operation. We report 4 children with severe respiratory problems (failure to extubate, 2; severe respiratory distress, 2) caused by severe tracheomalacia and tracheal compression after DAA repair, treated by anterior aortopexy. Aortopexy proved effective and safe in improving symptoms and provides a simple treatment option for children with severe malacia or tracheal compression after DAA repair.

Long segment congenital tracheal stenosis in twins successfully treated by slide tracheoplasty.

Long segment congenital tracheal stenosis (LSCTS), associated with complete tracheal rings, is a rare condition, difficult to manage and historically associated with high mortality rate. We report two pairs of identical twins all affected by LSCTS successfully treated by sliding tracheoplasty. All had severe respiratory distress.

Three-dimensional image analysis of facial skeletal changes after monobloc and bipartition distraction.

Background: Both monobloc and facial bipartition distraction are important tools for correcting functional and aesthetic problems in patients with syndromic craniosynostosis. Three-dimensional computed tomographic reconstructions have become increasingly useful in planning and analyzing surgical results. This study measured the differential deformation of the facial skeleton following distraction osteogenesis with the rigid external distractor frame, looking especially at correction of the midface concavity.

Vascular compression of the airway in children.

Congenital heart disease (CHD) is an important clinical problem. Although survival has improved over recent decades, certain children with CHD remain difficult to treat, usually because of severe co-morbidity or uncorrectable defects. Vascular compression of the airway is one such co-morbidity, occurring in approximately 1-2% of children with CHD.

Suction diathermy for adenoidectomy: complications and risk of recurrence.

Objectives: When introduced, suction coagulation was initially utilised for haemorrhage control following curettage of the adenoid pad. More recently the whole procedure has been performed using the technique. This study aims to report post-operative haemorrhage rates and risk of recurrence in adenoidectomy performed solely by suction diathermy in children.

Bone mineral density in children with chronic renal failure.

Bone mineral density (BMD) is important in children and adolescents because of its relationship to long-term skeletal health, and because, in adults with chronic renal failure (CRF), a relationship between low BMD and vascular calcification has been suggested. To investigate the relationship between BMD and manipulable factors that might affect it, i.e.

The management of congenital tracheal stenosis.

This paper reviews current concepts and results in the management of congenital tracheal stenosis (CTS). Diagnostic options are considered and the requirements for successful management defined. Chief amongst these is a multi-disciplinary approach with individualised patient management.

Conservative management of pneumatosis intestinalis and pneumoperitoneum following bone-marrow transplantation.

Pneumatosis intestinalis (PI), with or without pneumoperitoneum (PP), may complicate allogenic bone-marrow transplantation (BMT). The aim of our study was to establish the incidence and outcome of this complication following BMT in children. A departmental database was used to identify children who underwent BMT in the 4-year period up to December 1999.

Oesophageal atresia: a simplified approach to early management.

Management following the repair of oesophageal atresia (OA) with tracheooesophageal fistula (TOF) in the past included the routine use of an intercostal chest drain, a gastrostomy, or a transanastomotic tube (TAT) for enteral nutrition and a routine contrast swallow (CS) before oral feeds. There has been a trend towards simplification of the management, but this is not universal. The aim of this study was to evaluate the safety of a simplified management regime in infants undergoing primary repair of OA in a retrospective case note review of infants undergoing surgery for OA with TOF under the care of one consultant over a 12-year period.

Upper pole heminephrectomy: is complete ureterectomy necessary?

Objective: To determine the re-operation rate on the distal ureter after upper pole heminephrectomy with incomplete ureterectomy.

Patients And Methods: The case notes from one institution were reviewed retrospectively; 60 upper pole heminephrectomies with incomplete ureterectomy were undertaken in 39 girls and 16 boys (mean age at primary surgery 27 months, range 3--88).

Results: Thirty-two children (58%) had an antenatal diagnosis while 12 (22%) presented with a urinary tract infection (UTI) and six (11%) with urinary incontinence.

Cleft lip and palate care in the United Kingdom--the Clinical Standards Advisory Group (CSAG) Study. Part 3: speech outcomes.

Objective: To summarize speech outcomes in children born with unilateral cleft lip and palate (UCLP) throughout the United Kingdom.

Design: Prospective descriptive study on a cross-sectional sample of children.

Patients/participants: Data were collected for 238 5-year-olds (born between April 1, 1989, and March 31, 1991) and 218 12-year-olds (born between April 1, 1982, and March 31, 1984) with complete UCLP.

Quantitative 99mTc-DMSA uptake in experimental pyelonephritis.

Unlabelled: Quantitative 99mTc-dimercaptosuccinic acid (DMSA) renal uptake was studied in unilateral reflux-related pyelonephritis in pigs. The changes to absolute % dose uptake and differential uptake occurring with induction and after treatment of pyelonephritis were correlated with the DMSA images and renal pathology.

Methods: Quantitative uptake in 53 young pigs was obtained from planar images acquired 6 h after injecting the dose.

Changes in the oral streptococcal flora of children undergoing allogeneic bone marrow transplantation.

The changes in the oral streptococcal flora of twenty children undergoing allogeneic bone marrow transplant are described. Saliva was collected from each child on four separate occasions: (i) before the conditioning regimen; (ii) 7 days post-transplantation; (iii) when the neutrophil count had risen above 0.5 x 10(9)/l; (iv) 119 days post-transplantation.

The characteristics of primary vesico-ureteric reflux in male and female infants with pre-natal hydronephrosis.

Objective: To examine the characteristics of primary vesico-ureteric reflux (VUR) in young infants following prenatal hydronephrosis.

Patients And Methods: The study comprised 155 consecutive infants with VUR detected at a mean age of 8.7 weeks (SD 6.