Acute kidney injury in the pediatric intensive care unit at a tertiary care hospital of the Armed Forces: a cross-sectional observational study

BackgroundAcute kidney injury (AKI) is shown to be the commonest complication in critically ill children admitted to the pediatric intensive care unit (PICU). Kidney Disease: Improving Global Outcomes (KDIGO) classification and definition are now used universally. We undertook prospective observational study to study the etiology and maximum stage of AKI as defined by KDIGO and its complications and outcomes.MethodsAll children admitted to the PICU were included in the study. The diagnosis of sepsis and multiorgan dysfunction syndrome (MODS) was made according to the standard international guidelines. The patients were followed up till discharge/death. All children were screened for AKI at admission and subsequently using serum creatinine measured by modified Jaffe's method and urine output measurement.ResultsA total of 197 children were admitted to the PICU. 38 (19.28%) developed AKI, and 6 (15.78%) developed stage III AKI. Malignancies, serious neurological and renal disorders, and postsurgery complications accounted for most of the cases with AKI. Six were admitted with primary renal condition. Sepsis with or without MODS was seen in 12 patients with AKI and in 8 without AKI. Twenty-one children with AKI and 3 children without AKI were exposed to nephrotoxic drugs. Twenty-three children with AKI required inotropic support. The average length of stay (ALOS) of children with AKI in the PICU was 9.86 days, whereas ALOS of children without AKI was 6.23 days. Eighteen children with AKI (47.36%) and 36 (21.38%) with no AKI died.ConclusionsAKI in children in the PICUs of referral hospitals in the armed forces have varied etiologies and presentations. These children require early identification and management with close monitoring to prevent long-term renal morbidity and mortality.     

石家庄地区799例孕妇产前诊断羊水细胞染色体结果分析

目的分析产前诊断羊水染色体核型,总结胎儿异常核型出现的类型、发生率及相关影响因素,为产前诊断提供依据。方法对产前筛查高危孕妇知情同意下进行羊水穿刺、细胞培养及染色体制备、G显带核型分析。结果799例羊水标本中共发现异常染色体77例,发生率为9．64％。其中21-三体4例,46,Xn,inv（9）4例,46,Xn,inv（1）（p12q12）,46,Xn,iny（2）（p11q33）,46,Xn,t（7;15）（q31q25）,46,Xn,t（11;12）（q25;ql3）,46,Xn,add（15）,47,XYY,47,XXY,46,xn[65]／47,Xn,＋5[3],46,xn[43]／47,Xn,＋17[4],46,Xn[95]／46,Xn,psudic（22;22）（q13;ql3）[5]各1例,染色体多态63例。结论羊水染色体核型分析是产前筛查高危确诊实验,能提高染色体病的检出率,对产前诊断有重要的指导意义。     

A new genetic abnormality leading to TP53 gene deletion in chronic lymphocytic leukaemia

The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non-allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.     

Torsion biomechanics of the spine following lumbar laminectomy: a human cadaver study

Purpose

Lumbar laminectomy affects spinal stability in shear loading. However, the effects of laminectomy on torsion biomechanics are unknown. The purpose of this study was to investigate the effect of laminectomy on torsion stiffness and torsion strength of lumbar spinal segments following laminectomy and whether these biomechanical parameters are affected by disc degeneration and bone mineral density (BMD).

Methods

Ten human cadaveric lumbar spines were obtained (age 75.5, range 59–88). Disc degeneration (MRI) and BMD (DXA) were assessed. Disc degeneration was classified according to Pfirrmann and dichotomized in mild or severe. BMD was defined as high BMD (≥median BMD) or low BMD (<median BMD). Laminectomy was performed either on L2 (5×) or L4 (5×). Twenty motion segments (L2–L3 and L4–L5) were isolated. The effects of laminectomy, disc degeneration and BMD on torsion stiffness (TS) and torsion moments to failure (TMF) were studied.

Results

Load–displacement curves showed a typical bi-phasic pattern with an early torsion stiffness (ETS), late torsion stiffness (LTS) and a TMF. Following laminectomy, ETS decreased 34.1 % (p < 0.001), LTS decreased 30.1 % (p = 0.027) and TMF decreased 17.6 % (p = 0.041). Disc degeneration (p < 0.001) and its interaction with laminectomy (p < 0.031) did significantly affect ETS. In the mildly degenerated group, ETS decreased 19.7 % from 7.6 Nm/degree (6.4–8.4) to 6.1 Nm/degree (1.5–10.3) following laminectomy. In the severely degenerated group, ETS decreased 22.3 % from 12.1 Nm/degree (4.6–21.9) to 9.4 Nm/degree (5.6–14.3) following laminectomy. In segments with low BMD, TMF was 40.7 % (p < 0.001) lower than segments with high BMD [34.9 Nm (range 23.7–51.2) versus 58.9 Nm (range 43.8–79.2)].

Conclusions

Laminectomy affects both torsion stiffness and torsion load to failure. In addition, torsional strength is strongly affected by BMD whereas disc degeneration affects torsional stiffness. Assessment of disc degeneration and BMD pre-operatively improves the understanding of the biomechanical effects of a lumbar laminectomy.     

Reduced Coronary Flow Reserve and Early Diastolic Filling Abnormalities in Patients with Nephrotic Syndrome

Background. Increased cardiovascular disease risk is very well known in nephrotic syndrome. Coronary flow reserve measurement by trans-thoracic echocardiography reflects coronary microvascular and endothelial function. However, diastolic filling abnormalities by echocardiography may indicate diastolic dysfunction. Our aim was to evaluate endothelial and diastolic functions by trans-thoracic echocardiography in nephrotic syndrome. Methods. Eighteen patients with nephrotic syndrome (five females, 34 ± 17 years) and 30 controls (10 females, 35 ± 10 years) were evaluated in this cross-sectional observational study. Age, weight, lipid profile, glucose, blood urea nitrogen, creatinine, serum albumin, total protein, C-reactive protein, erythrocyte sedimentation rate, blood pressures, 24-hour urine volume, and protein were recorded. Glomerular filtration rate was estimated by Cockcroft-Gault Formula. Doppler flow and other echocardiographic parameters were measured by Vivid 7 echocardiography. Results. Coronary flow reserve was significantly lower in patients than controls (p < 0.001) and was negatively correlated with proteinuria (p < 0. 001), creatinine levels (p?=?0.03), total cholesterol (p?=?0.02), C-reactive protein (p?=?0.02), and erythrocyte sedimentation rate (p?=?0.005). E/A ratio was significantly lower in patients than in controls (p?=?0.005). DT was significantly higher in patients than in controls (p?=?0.01) and isovolumic relaxation time was similar in both groups. Conclusion. Coronary flow reserve and left ventricular diastolic filling are significantly impaired in nephrotic syndrome. Proteinuria, serum creatinine, total cholesterol and inflammation may have all contributory effects on endothelial dysfunction. Early evaluation of patients with nephrotic syndrome should include coronary flow and diastolic function by echocardiography.     

Partial Cervical Agenesis and Complete Vaginal Atresia

BackgroundThe objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center.CasesTwo patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized.Summary and ConclusionPartial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.     

Combined Alport syndrome and Klinefelter syndrome

To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9‐month‐old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria/proteinuria was identified in urinary screening at 6 months of age. Renal biopsy indicated AS, with complete deficit of the α5 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605‐2a > c) was seen in the gene encoding α5 chain of type IV collagen (COL4A5) on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history.     

染色体多态性与临床生殖异常关系的探讨*

目的：探讨人类染色体多态性与临床生殖异常的关系。方法：针对来我院遗传咨询的患者,进行常规外周血淋巴细胞培养,染色体G显带方法进行染色体核型分析。结果：在1068例遗传咨询者中,检出染色体多态性132例,检出率12.4%,明显高于普通人群发生率（2.6%）,两者差异有统计学意义（P<0.05）。其中常染色体多态性100例,包括次缢痕增长（1/9/16号染色体）47例占多态核型35.6%,D/G组染色体短臂增长42例占多态核型31.9%,9号染色体臂间倒位11例占多态核型8.3%。Y染色体多态性32例占多态核型24.4%,其中Y染色体长臂qh+19例,Y染色体长臂qh-13例。结论：本文中染色体多态性变异检出率提示染色体多态性可能与生育异常诸如：不孕不育、习惯性流产、死胎畸胎、少弱精、无精症等具有相关性。     

Methods for Three-Dimensional Geometric Characterization of the Arterial Vasculature

Complex vascular anatomy often affects endovascular procedural outcome. Accurate quantitative assessment of three-dimensional (3D) in-vivo arterial morphology is therefore vital for endovascular device design, and preoperative planning of percutaneous interventions. The aim of this work was to establish geometric parameters describing arterial branch origin, trajectory, and vessel curvature in 3D space that eliminate the errors implicit in planar measurements. 3D branching parameters at visceral and aortic bifurcation sites, as well as arterial tortuosity were determined from vessel centerlines derived from magnetic resonance angiography data for three subjects. Errors in coronal measurements of 3D branching angles for the right and left renal arteries were 3.1 ± 3.4° and 7.5 ± 3.7°, respectively. Distortion of the anterior visceral branching angles from sagittal measurements was less pronounced. Asymmetry in branching and planarity of the common iliac arteries was observed at aortic bifurcations. The renal arteries possessed considerably greater 3D curvature than the abdominal aorta and common iliac vessels with mean average values of 0.114 ± 0.015 and 0.070 ± 0.019 mm⁻¹ for the left and right, respectively. In conclusion, planar projections misrepresented branch trajectory, vessel length, and tortuosity proving the importance of 3D geometric characterization for possible applications in planning of endovascular interventional procedures and providing parameters for endovascular device design.