Chromosome 2 (2p16) abnormalities in Carney complex tumours

Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome characterised by spotty skin pigmentation, cardiac, skin, and breast myxomas, and a variety of endocrine and other tumours. The disease is genetically heterogeneous; two loci have been mapped to chromosomes 17q22–24 (the CNC1 locus) and 2p16 (CNC2). Mutations in the PRKAR1A tumour suppressor gene were recently found in CNC1 mapping kindreds, while the CNC2 and perhaps other genes remain unidentified. Analysis of tumour chromosome rearrangements is a useful tool for uncovering genes with a role in tumorigenesis and/or tumour progression. CGH analysis showed a low level 2p amplification recurrently in four of eight CNC tumours; one tumour showed specific amplification of the 2p16-p23 region only. To define more precisely the 2p amplicon in these and other tumours, we completed the genomic mapping of the CNC2 region, and analysed 46 tumour samples from CNC patients with and without PRKAR1A mutations by fluorescence in situ hybridisation (FISH) using bacterial artificial chromosomes (BACs). Consistent cytogenetic changes of the region were detected in 40 (87%) of the samples analysed. Twenty-four samples (60%) showed amplification of the region represented as homogeneously stained regions (HSRs). The size of the amplicon varied from case to case, and frequently from cell to cell in the same tumour. Three tumours (8%) showed both amplification and deletion of the region in their cells. Thirteen tumours (32%) showed deletions only. These molecular cytogenetic changes included the region that is covered by BACs 400-P-14 and 514-O-11 and, in the genetic map, corresponds to an area flanked by polymorphic markers D2S2251 and D2S2292; other BACs on the centromeric and telomeric end of this region were included in varying degrees. We conclude that cytogenetic changes of the 2p16 chromosomal region that harbours the CNC2 locus are frequently observed in tumours from CNC patients, including those with germline, inactivating PRKAR1A mutations. These changes are mostly amplifications of the 2p16 region, that overlap with a previously identified amplicon in sporadic thyroid cancer, and an area often deleted in sporadic adrenal tumours. Both thyroid and adrenal tumours constitute part of CNC indicating that the responsible gene(s) in this area may indeed be involved in both inherited and sporadic endocrine tumour pathogenesis and/or progression.     

Immunohistochemical study of copper-zinc and manganese superoxide dismutases in the lungs of human fetuses and newborn infants: Developmental profile and alterations in hyaline membrane disease and bronchopulmonary dysplasia

To determine the late gestational development of copper-zinc (CnZn) and manganese (Mn) superoxide dismutases (SOD) in human lung, immunohistochemical localization was performed for each SOD. The lung samples were taken from five aborted fetuses, four fetuses in which intrauterine death occurred, one full-term neonate, two premature infants with hyaline membrane disease and one premature infant with bronchopulmonary dysplasia (BPD). Morphometry was performed, and the percent area of positive staining was computed. The bronchial epithelium was intensely stained from the early stages of gestation (i.e. 17 weeks), while the staining intensity for both CuZnSOD and MnSOD in the peripheral airways increased gradually during lung development. The mean percent area of the staining for CuZnSOD and MnSOD from 16 to 38 weeks was increased 30-fold and 8-fold, respectively, and further increases were observed postnatally. CuZnSOD staining was markedly decreased in lungs with respiratory disorders. However, proliferating type II pneumocytes were intensely stained for MnSOD in the BPD lungs, making the staining area 3-fold larger than that in the control lungs. These results clearly depict age-related increases in staining for both CuZnSOD and MnSOD and an alteration in SOD distribution associated with neonatal respiratory disorders.     

An observational study of 256 cases of vascular trauma in the north western province of Pakistan.

During the past 10 years Peshawar has dealt with increasing casualties with penetrating trauma inflicted by a wide variety of missiles. The aim of this study was to assess whether delay in arrival and mode of presentation affects the outcome of patients with penetrating vascular trauma. Prospective data were collected on 256 vascular injuries in 248 patients (median age, 29 years; range, 7-60 years) between January 1995 and June 1998. Early presentation (group A, 55 cases, < 12 h) was compared with late presentation (group B, 201 cases, > 12 h). The majority of injuries (93%) were caused by fire-arms. Arterial injuries accounted for 71% of the total, venous injuries accounted for 10% and 19% were mixed. The site of injury was the lower limb (61%), upper limb (32%), abdominal cavity (5%) and neck (2%). Patients presented with absent pulses (56%), haemorrhage (46%), false aneurysms (8%), A-V fistula (5%) and 11% presented with more than one sign. There were significantly more lower limb amputations in group A than group B (23% versus 5%; P < 0.05), with fractures having a positive association with lower limb amputations (odds ratio, 0.32; 95% CI, 0.13-0.94; P < 0.05). Group A had a higher mortality than group B (18% versus 7%; P < 0.05). This study shows that patients with vascular trauma can be managed successfully with clinical assessment alone. Patients with fractures were more likely to suffer eventually from lower limb loss. Due to self-selection, arrival at the hospital less than 12 h after sustaining vascular injury was associated with a higher mortality than those presenting after 12 h.     

Simultaneous bilateral percutaneous nephrolithotomy in children

In the paediatric section, two papers relating to the upper urinary tract are presented. The first, from Hungary, describes simultaneous bilateral percutaneous nephrolithotomy in 13 patients, where it was deemed feasible; this is the first such report. Authors from London report on unilateral nephrectomy in patients with nephrogenic hypertension, and found that it was successful in normalising blood pressure in patients with renal hypertension with a normal contralateral kidney. OBJECTIVE: To evaluate the efficacy of removing bilateral kidney stones simultaneously from children, in one session. PATIENTS AND METHODS: Thirteen patients (three girls and 10 boys, 26 kidneys; mean age 8 years, range 3-14) underwent simultaneous bilateral percutaneous nephrolithotomy (PCNL) in the same session, under general anaesthesia, starting with ureteric catheter insertion into both kidneys and using a 26 F adult nephroscope. The mean (range) stone diameter was 2 (1-3.5) cm. Three patients had staghorn stones in one of their kidneys. Ultrasonic disintegration was used; two patients had bilateral and two others unilateral endopylotomy, and one patient had percutaneous suprapubic cystolithotomy in the same session. The mean (range) operative duration was 65 (55-90) min. RESULTS: All patients were rendered stone-free; there was no severe bleeding or any other complication. On one side in one of the patients, a second session was needed because of residual stone. The nephrostomy tubes were removed 3 and 4 days after PCNL and the hospital stay was 6 (1-11) days. CONCLUSION: The advantages of simultaneous bilateral PCNL are reduced psychological stress, one cystoscopy and anaesthesia, less medication and a shorter hospital stay and convalescence, with considerable savings in cost. In experienced hands this method can be used not only in adults but also in children. To our knowledge this is the only report of this technique in children.     

Transient versus surgically managed small bowel intussusception in children: Role of ultrasound

Background:

To evaluate and compare the ultrasound (US) features of transient small bowel intussusception (SBI) with those which required surgical management.

Materials and Methods:

US features of 26 children with 32 intussusceptions from January 2014 to August 2014 were recorded and compared with follow-up imaging or surgical findings.

Results:

Transient SBI when compared to surgically managed intussusception has shorter length of intussusception (mean 2.25 cm, range 1.8-4.5 cm vs. mean 5.6 cm, range, 2.3-7.8 cm), smaller transverse diameter (mean, 1.2 cm, range 0.8-2.3 cm vs. mean, 3.3 cm, range 2.9-5.4 cm) and thin wall (mean, 3.3 mm, 2.3-4.9 mm vs. mean, 6.8 mm, range, 4.3-11.2 mm). Four out of five surgically managed intussusceptions were associated with the lead point while none of the transient SBI had any lead point. Peristalsis was absent in all surgically managed intussusceptions.

Conclusion:

Transient SBI is associated with a shorter length of intussusception, smaller transverse diameter, thin walls, absence of the lead point and visible peristalsis. All these findings may help in distinguishing it from those requiring surgical management.Key words: Children, surgically managed small bowel intussusception, transient small bowel intussusception, ultrasound     

Superficial ulnar artery terminating in a normal ulnar artery

Routine dissection of the left upper limb of an 86-year-old male cadaver showed a superficial ulnar artery that anastomosed with the ulnar artery. The superficial ulnar artery arose from the third part of the axillary artery, coursed distally over the flexor muscles of the forearm, and terminated by anastomosing with the ulnar artery in the distal third of the forearm. Arterial and neural variations were also observed on the contralateral side. The presence of a superficial ulnar artery is important clinically when raising forearm flaps in reconstructive surgery.