Asparaginase-associated pancreatitis: a study on phenotype and genotype in the NOPHO ALL2008 protocol.

Asparaginase (ASP)-associated pancreatitis (AAP) occurs during acute lymphoblastic leukemia treatment. Among 1285 children (1.0-17.9 years) diagnosed during July 2008-December 2014 and treated according to the Nordic/Baltic ALL2008 protocol, 86 (cumulative incidence=6.8%) developed AAP. Seventy-three cases were severe (diagnostic AAP criteria persisting >72 h) and 13 mild. Cases were older than controls (median: 6.5 vs 4.5 years; P=0.001). Pseudocysts developed in 28%. Of the 20 re-exposed to ASP, 9 (45%) developed a second AAP. After a median follow-up of 2.3 years, 8% needed permanent insulin therapy, and 7% had recurrent abdominal pain. Germline DNA on 62 cases and 638 controls was genotyped on Omni2.5exome-8-v1.2 BeadChip arrays. Overall, the ULK2 variant rs281366 showed the strongest association with AAP (P=5.8 × 10-7; odds ratio (OR)=6.7). Cases with the rs281366 variant were younger (4.3 vs 8 years; P=0.015) and had lower risk of AAP-related complications (15% vs 43%; P=0.13) compared with cases without this variant. Among 45 cases and 517 controls <10 years, the strongest associations with AAP were found for RGS6 variant rs17179470 (P=9.8 × 10-9; OR=7.3). Rs281366 is located in the ULK2 gene involved in autophagy, and RGS6 regulates G-protein signaling regulating cell dynamics. More than 50% of AAP cases <10 years carried one or both risk alleles.

Early recovery and stabilisation with instrumentation in anterior cervical spine tuberculosis.

BACKGROUND: Tuberculous infection causes destruction, caseation, and necrosis of cervical vertebrae or may present as an abscess. Complete recovery of neurological status is the rule after anterior surgical decompression and fusion, even in cases with complete paraplegia or tetraplegia. Neurological impairment and spinal deformity are the major concerns with spinal tuberculosis. Absolute nonoperative treatment was offered in pre antibiotic era. Since last decade great advances in terms of operative options drastically changed the scenario in management of caries spine and indications for surgery have been extended for early resolution of disease, quicker rehabilitation and prevention of late complications. METHODS: During the period from 2005 to 2012, 336 patients of spinal tuberculosis were admitted in Department of neurosurgery, Liaquat University Hospital, Jamshoro. Forty-four patients were considered for surgery. All 44 patients underwent decompression through anterior cervical approach followed by fusion with iliac bone graft and then stabilization with titanium locking plate. RESULTS: There were 20 males and 24 females. Neck pain was the chief complaint and improved in all cases. Patients had varying grades of motor weakness in upper and lower limbs. All the patients had good neurological recovery after surgery. No postoperative surgical complication found in any patient. CONCLUSION: Anterior cervical decompression, fusion and instrumentation with titanium plate fixation in patients with tuberculous spondylitis gives excellent results without untoward effects.

Craniosynostosis: early recognition prevents fatal complications.

BACKGROUND: Craniosynostosis is the premature fusion of cranial vault sutures. The overall incidence is 3-5/10,000 live births. With multiple craniosynostoses, brain growth may be impeded by the unyielding skull. Most cases of single suture involvement can be treated with linear excision of suture. Involvement of multiple sutures or skull has usually required combined efforts of neurosurgeons and craniofacial surgeons. METHODS: On the basis of visible skull deformity all patients were admitted in the Department of Neurosurgery, Liaquat University Hospital, Jamshoro, Pakistan. Patients were examined for signs of raised ICP and other congenital deformities. The records of patients were maintained till follow up. RESULTS: Twenty-seven children were included in this study from 2002 to 2009. Age range was 1-6 years, boys were 18 (66.6%), and girls were 9 (33.3%). The common suture affected was coronal 12 (44.4%). Two children with craniostenosis belonged to same family, and all presented with suture involvement. Three (11.1%) deaths occurred due to hypothermia (1), and blood loss (2). CONCLUSION: Early diagnosis, expert surgical techniques and per- and postoperative care for bleeding and temperature regulation prevent mortality and morbidity.