Focal fatty change in the liver that developed after cholecystectomy

Focal fatty change of the segment IV of the liver has been attributed to local systemic venous inflow replacing the portal venous supply, which could develop or be accentuated after gastrectomy. However, focal fatty change due to aberrant pancreaticoduodenal vein that developed after cholecystectomy has never been reported. We report a 30-year-old man with such a rare lesion, which was initially misdiagnosed as a hepatocellular carcinoma, but was confirmed on computed tomography during selective gastroduodenal arteriography. The lesion disappeared 12 mo later without any intervention.     

Clinical Significance of Co-expression of Aberrant Antigens in Acute Leukemia: A Retrospective Cohort Study in Makah Al Mukaramah,Saudi Arabia

Background: Aberrant phenotypes in acute leukemia have variable frequency and their prognostic andpredictive relevance is controversial, despite several reports of clinical significance. Aims: To determinethe prevalence of aberrant antigen expression in acute leukemia, assess clinical relevance and demonstrateimmunophenotype-karyotype correlations. Materials and Methods: A total of 73 (40 AML and 33 ALL) newlydiagnosed acute leukemia cases presenting to KAMC, Kingdom of Saudi Arabia, were included. Diagnosis wasbased on WHO criteria and FAB classification. Immunophenotyping by flow cytometry, conventional karyotypingand fluorescence in situ hybridization for gene rearrangements were performed. Results: Aberrant antigens weredetected in 27/40 (67.5%) of AML and in 14/33 (42.4%) in ALL cases. There were statistically significant higherTLC in Ly+ AML than in Ly-AML (p=0.05) and significant higher blast count in ALL with aberrant antigensat presentation and day 14 (p=0.005, 0.046). There was no significant relation to clinical response, relapse freesurvival (RFS) or overall survival (p>0.05), but AML cases expressing ≥2 Ly antigens showed a lower medianRFS than those expressing a single Ly antigen. In AML, CD 56 was expressed in 11/40. CD7 was expressed in7/40, having a significant relation with an unfavorable cytogenetic pattern (p=0.046). CD4 was expressed in 5/40.CD19 was detected in 4/40 AML associated with M2 and t (8; 21). In ALL cases, CD33 was expressed in 7/33and CD13 in 5/33. Regarding T Ag in B-ALL CD2 was expressed in 2 cases and CD56 in 3 cases. Conclusions:Aberrant antigen expression may be associated with adverse clinical data at presentation. AML cases expressing≥2 Ly antigens may have shorter median RFS. No specific cytogenetic pattern is associated with aberrant antigenexpression but individual antigens may be related to particular cytogenetic patterns. Immunophenotype-karyotypecorrelations need larger studies for confirmation.     

X线胸片检查和颈部血管超声对预测喉不返神经的价值

目的 通过对甲状腺手术患者术前、术中及术后资料的分析,评估X线胸片和颈部血管超声预测喉不返神经（non-recurrent laryngeal nerve,NRLN）的价值。 方法 对2006年1月至2013年12月的2 251例行甲状腺手术的患者术前常规检查X线胸片,通过仔细阅读胸片预测NRLN,术后对证实存在NRLN的患者行颈部血管超声评估。 结果 2 251例患者中49例（2.18%）X线胸片怀疑存在右锁骨下动脉畸形（aberrant right subclavian artery, ARSA）,其中23例（46.94%）术中证实存在NRLN,均无NRLN损伤。2 202例X线胸片未怀疑存在ARSA者,5例（0.23%）术中证实存在NRLN,其中1例(20.00%)损伤。术中证实存在NRLN的28例患者,术后颈部血管超声检查示存在ARSA,X线胸片怀疑存在ARSA而手术证实无NRLN的26例患者,术后颈部血管超声显示为正常右锁骨下动脉（right subclavian artery,RSA）。预测存在NRLN的23例患者术中NRLN神经显露时间比未怀疑存在NRLN的5例患者短（t=-18.867 2,P=0.000 0）。 结论 甲状腺手术患者术前应仔细阅读X线胸片,联合颈部血管超声预测ARSA。ARSA能准确预测NRLN,降低NRLN的损伤率和缩短手术时间。     

A Tale of Two Brothers: Anomalous Coronary Arteries in Two Siblings

We report a case of a 10-year-old boy with aberrant left coronary artery from the right sinus of Valsalva, whose presenting sign was cardiac arrest. The patient's asymptomatic younger brother was found to have aberrant right coronary artery from the left sinus of Valsalva. This is the first report of a familial clustering of coronary artery anomalies in which the initial presentation of one subject was sudden cardiac death and a sibling harboring a similar lesion was identified while asymptomatic.     

Influence of collaterals on the left ventricular end-diastolic pressure and serum NT-proBNP levels in patients with coronary chronic total occlusion

Objective

Although numerous studies have shown the protective effects of the well-developed coronary collaterals on left ventricular functions, the relationship between collateral grade and left ventricular end diastolic pressure has not been studied in chronic total occlusion patients. Also, there are conflicting data on the effect of collaterals on NT-proBNP levels. The aim of our study was to evaluate the relationship between coronary collateral circulation and left ventricular end diastolic pressure and NT-proBNP levels in chronic total occlusion patients.

Aneurysm of a systemic artery supplying the normal basal segments of the left lower lobe

The case of an aneurysm of a systemic artery supplying otherwise normal basal segments of the left lower lobe is presented. The diagnosis was correctly made postprocessed with three-dimensional reformatting using a multidetector row CT (MDCT) scanner. Conventional angiography was obviated.     

A Pulmonary Sequestered Segment with an Aberrant Pulmonary Arterial Supply: A Case of Unique Anomaly

We presented a rare case of a 64-year-old man with a combined anomaly of the bronchus and pulmonary artery that was detected incidentally. Computed tomography showed a hyperlucent, aerated sequestered segment of the right lower lung with an independent ectopic bronchus, which had no connection to the other airway. The affected segment was supplied by its own aberrant pulmonary artery branch from the right pulmonary trunk. This anomaly cannot be classified with any of the previously reported anomalies.     

RNA sequencing role and application in clinical diagnostic

Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.     

Integration of automated morphological features resolves a distinct group of atypical chronic lymphocytic leukemias with chromosomal aberrations

Automated morphological assessment of peripheral blood slides has become an important modality facilitating characterization and quantification of cells in a uniform, fast and robust manner. In this study, we evaluated the morphological diversity in peripheral blood films of 94 chronic lymphocytic leukemia (CLL) patients using the DM1200 CellaVision automated microscopy system. Aberrant lymphocytes and smudge cells were enumerated and correlated with CLL immunophenotype, chromosomal aberrations and prognostic parameters. Herein, we show that the percentages of aberrant and smudge cells was highly variable between patients and did not correlate with each other. Increased aberrant lymphocytes and fewer smudge cells were associated with an atypical immunophenotype including low expression of CD23, higher levels of FMC7 and bright surface levels of CD20. High fraction of aberrant lymphocytes also was associated with trisomy 12. These cells were predominantly of small/medium size, sometimes with cleft nuclei. No correlation was noted between aberrant or smudge cells and clinical stage, CD38, ZA70 or time to first treatment. Taken together, automated morphological analysis of peripheral blood leukocytes emerged as a powerful and robust tool for the quantitative morphological stratification of CLL. Integration of the automated morphological features discriminates between different CLL phenotypes and distinct chromosomal aberrations.