Clinical characteristics of childhood cancer in emergency room in a tertiary hospital in Pakistan

INTRODUCTION Worldwide,cancer is an important cause of mortality in children aged over 1 year.^([1])Numerically,the major cancers include acute lymphoblastic leukemia,CNS tumors and lymphomas.^([2-6])Cancer incidence is increasing in children globally as well as in Pakistan but the etiology is poorly understood.^([7])There are an estimated 160 000 new cases and 90 000 deaths per year worldwide in children aged under 15 years.^([8])The exact incidence in Pakistan is not known as there is no national tumor registry.

应用变性高效液相色谱技术检测肥大细胞病c-kit基因突变

本研究检测7例肥大细胞病患者c—kit基因激酶编码区突变情况，以探讨该基因变异在肥大细胞病诊断及治疗中的意义。应用PCR测定、变性高效液相色谱技术及DNA测序方法对患者进行c—kit基因外显子17～外显子19突变检测。结果表明：1例患者外显子17扩增产物在DHPLC中出现异常色谱峰，测序结果显示在外显子17出现A→T突变，即D816V；另2例患者外显子18／19经DHPLC检测，结果显示1个额外的色谱峰，测序结果证实在外显子18出现G→C改变，为同义突变L862L。结论：变性高效液相色谱技术是一种高效、可靠的突变检测方法，c—kit基因突变检测对肥大细胞病临床治疗有指导意义。

Axillary “Exclusion”—A Successful Technique for Reducing Seroma Formation after Mastectomy and Axillary Dissection

Introduction: A seroma is the commonest complication of breast cancer surgery, and although its consequences most often cause no more than discomfort and anxiety, more important sequelae include flap necrosis and wound breakdown. Infection developing within seroma increases morbidity and often results in the need for re-admission, re-imaging, drainage and antibiotic usage. Numerous methods to reduce post-mastectomy seroma formation have been tried with no consistent success. Methods: 24 consecutive patients undergoing mastectomy and axillary clearance were recruited before and after a departmental change in practice. At the point of skin closure, patients either underwent “axillary exclusion” or not. Total drain outputs were recorded by community district nursing staff for all patients. At the first post-operative visit, the presence and severity of seroma was recorded. Results: 24 patients were included (study group 14, control group 10). Age, size of tumour, and number of positive lymph nodes and laterality were comparable between groups. Mean drain output for the entire group was 471 ml (3 - 1030 ml) over 5.21 days. The control group had a drain output of 763.5 ml (95%CI 674.2 - 852.8) while the study group had a mean drainage of 262.2 ml (95%CI 161.9 - 362.5), a reduction of over 65%, p < 0.001. 15 (62.5%) out of 24 patients developed seroma. 42.9% of the study group and 90% of the control group developed seroma, p < 0.01. Conclusion: Seromas are a common complication following mastectomy and axillary clearance. Our technique of axillary exclusion has resulted in significantly reduced drainage volumes and fewer seromas.

Point Mutation Analysis of <i>PMP</i>22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies

A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, suggesting a point mutation hotspot for individuals with this condition. Sequencing analysis of PMP22 exon 5 should therefore be included as a routine diagnostic test for gene deletion-negative patients.

X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1

Blepharoptosis (ptosis) is defined as the abnormal drooping of the upper eyelid and is a feature of many conditions. It can be in isolated or syndromic form, bilateral or unilateral and congenital or acquired. Previously we have carried out linkage analysis on a family with dominantly inherited congenital bilateral isolated ptosis and found the condition to be linked to a region of approximately 20 megabases of chromosome Xq24-Xq27.1 with a cumulative LOD score of 5.89. We now describe further analysis using array comparative genomic hybridisation (array CGH), fluorescence in situ hybridisation (FISH), long range PCR and sequencing. This has enabled us to identify and characterise at the level of DNA sequence an insertional duplication and rearrangement involving chromosomes 1p21.3 and a small quasipalindromic sequence in Xq27.1, disruption of which has been associated with other phenotypes but which is cosegregating with X-linked congenital bilateral isolated ptosis in this family. This work highlights the significance of the small quasipalindromic sequence in genomic rearrangements involving Xq27.1 and the importance of comprehensive molecular and molecular cytogenetic investigations to fully characterise genomic structural complexity.

The JAK2^V617FMutation Seen in Myeloproliferative Neoplasms (MPNs) Occurs in Patients with Inflammatory Bowel Disease: Implications of a Pilot Study

Patients with IBD frequently have hematologic abnormalities suggestive of JAK2 mutated MPNs, but are traditionally classified as reactive processes. Haplotype 46/1 is a well-characterized genetic predisposition, common to both inflammatory bowel disease (IBD) and myeloproliferative neoplasms (MPN). In view of this shared genetic predisposition, we measured the frequency of the JAK2V617F mutation in IBD patients with thrombocytosis or erythrocytosis, in order to ascertain whether a higher than expected proportion of these patients may in fact have underlying MPNs. 1121 patients were identified with an active diagnosis of Crohn’s disease or ulcerative colitis, of which 474 had either thrombocytosis or erythrocytosis. Patients with abnormal counts were tested for the JAK2V617F mutation during routine follow-up visits. Interim analysis of first 23 patients tested was performed to assess whether the JAK2V617F positivity rate was statistically significant compared with known expected frequencies in a comparable control population. Of 23 patients, 13 patients had thrombocytosis and 10 had erythrocytosis. Three patients with thrombocytosis (23%), and 1 patient with erythrocytosis (10%), tested positive for JAK2V617F, exceeding the expected thresholds for statistical significance. In patients with IBD and thrombocytosis or erythrocytosis, a meaningful proportion may harbor an undiagnosed MPN, as indicated by clonal abnormalities such as JAK2V617F. These findings imply the need for increased testing of these patients for clonal hematologic abnormalities, and importantly, if found, suggest the need for therapeutic strategies with drugs, such as JAK2 inhibitors, in patients with both MPN and IBD.

Proximal Femoral Cortical Thickness and Medullary Canal Diameter in Soft and Hard Water Regions

This study compared proximal femoral morphology in patients living in soft and hard water regions. The proximal femoral morphology of two groups of 70 patients living in hard and soft water regions with a mean age of 72.29 (range: 50 to 87 years) was measured using an antero-posterior radiograph of the non-operated hip with magnification adjusted. The medullary canal diameter at the level of the lesser trochanter (LT) was significantly wider in patients living in the hard water region (mean width: 1.9 mm wider;p = 0.003). No statistical significant difference was found in the medullary canal width at 10 cm below the level of LT, Dorr index, or Canal Bone Ratio (CBR). In conclusion, the proximal femoral morphology does differ in patients living in soft and hard water areas. These results may have an important clinical bearing in patients undergoing total hip replacement surgery. Further research is needed to determine whether implant survivorship is affected in patients living in hard and soft water regions.

所有夜班医生都需要一间配床的值班室

英格兰健康教育部门近期发布了一份报告,提出一项令人称道的倡议——呼吁医院将被占用的医生值班室和休息室还给医生1。早在2015年,我就是最早呼吁顾问医生参与值夜班时应得到相对充足睡眠时间的那批人之一2,坚持要求信托医院应为我们这些整夜待在医院值班的顾问医生提供必需的休息场所及餐食(包括有一张舒适的床)。