Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) have shown that the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is present in the apical surface of these cells and mediates chloride (Cl-) and fluid secretion in vitro. To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases. ADPKD in this family is linked to PKD1. The family is composed of 26 members; 11 members with ADPKD, 4 members with CF, and 2 members with both diseases. Renal volumes measured by computerized tomography (CT), calculated creatinine clearances, and other clinical parameters in the family members with ADPKD and CF were compared with those in the family members with ADPKD alone, as well as to a large population of patients with ADPKD. The patients with CF and ADPKD, but not the CF heterozygote carriers with ADPKD, had less severe polycystic kidney and liver disease, as indicated by normal renal function; smaller renal volume, even when corrected for height and body surface area; and the absence of hypertension and liver cysts. These observations suggest that the coexistence of CF may reduce the severity of ADPKD.     

Workshop on Late Renal Allograft Dysfunction

Despite continued improvement in incidence of acute immune injury and short-term graft survival, late allograft dysfunction remains a significant problem in the renal transplant population. Recent reports suggest that rates of renal function decline are quite varied in the overall recipient population, and that individual rates for many recipients may not change substantially over time. Moreover, analyses also reveal distinct predictive factors for both early and late functional decline. Long-term outcome studies for renal transplantation, however, might be significantly limited by incomplete data sets for assessing clinical endpoints. In view of the heterogeneous factors that may cause progressive allograft injury, more routine biopsy sampling would allow a more complete characterization of induced injuries. Elucidating mechanisms of renal fibrosis in response to injury, in experimental systems and humans, is also an important goal in better understanding chronic allograft damage. Regulation of cell senescence genes and epithelial to mesenchymal transition, studied in other models of renal fibrosis, are likely relevant to studies of renal allograft dysfunction. Recent technical advances in analyzing biological samples may play a pivotal role in identifying and validating surrogate markers of allograft function for future interventional trials in transplantation.     

Differences between the pediatric and adult presentation of fibromuscular dysplasia: results from the US Registry

Background

Fibromuscular dysplasia (FMD) is a non-inflammatory arteriopathy that causes significant morbidity in children.

Methods

The clinical features, presenting symptoms, and vascular beds involved are reviewed in the first 33 patients aged <18 years who are enrolled in the United States Registry for FMD from five registry sites and compared with 999 adult patients from 12 registry sites.

Results

Mean age at diagnosis was 8.4?±?4.8 years (16 days to 17 years). Compared with adults, pediatric FMD occurs in more males (42.4 vs 6 %, p?<?0.001). Children with FMD have a stronger previous history of hypertension (93.9 vs 69.9 %, p?=?0.002). Hypertension (100 %), headache (55 %), and abdominal bruits (10.7 %) were the most common presenting signs and symptoms. FMD affects renal vasculature in almost all children (97 vs 69.7 %, p?=?0.003). The extra-cranial carotid vessels are less commonly involved in children (23.1 vs 73.3 %, p?<?0.001). The mesenteric arteries (38.9 vs 16.2 %, p?=?0.02) and aorta (26.3 vs 2.4 %, p?<?0.001) are more commonly involved in children.

Conclusions

In the United States Registry for FMD, pediatric FMD affects children from infancy throughout childhood. All children presented with hypertension and many presented with headache and abdominal bruits. In children, FMD most commonly affects the renal vasculature, but also frequently involves the mesenteric arteries and abdominal aorta; the carotid vessels are less frequently involved.

     

Division of the fistula in laparoscopic-assisted repair of anorectal malformations—are clips or ties necessary?

Background

Laparoscopic-assisted anorectoplasty (LAARP) was introduced in 2000 by Georgeson (J Pediatr Surg. 2000;35:927-930) and has gained interest because of improved visualization of the rectal fistula and the ability to place the pull-through segment within the levator muscle complex with minimal dissection. Currently, there is no consensus on how the fistula should be managed during LAARP. We postulated that the fistula could be managed with simple division and temporary diversion of urine through a Foley catheter without surgical ligation of the fistula similar to the management of a traumatic urethral injury.

Methods

A retrospective chart review was performed of patients with imperforate anus who underwent LAARP between January 2005 and September 2007.

Results

Eight patients were managed with a LAARP. Five male patients had the fistula simply divided. In these 5 patients, the location of the fistula was rectoprostatic (2) and rectobulbar (3). The Foley catheter was left in position until a retrograde urethrogram demonstrated no evidence of a leak (range, 6-40 days). There were no postoperative urethral strictures and one diverticulum. Follow-up has ranged from 10 to 19 months.

Conclusion

Male patients with a rectourethral fistula at or just below the prostate can be safely and successfully managed with simple division of the fistula.     

Percutaneous cholecystostomy for patients with acute cholecystitis and an increased surgical risk

Purpose To evaluated percutaneous cholecystostomy in patients with acute cholecystitis and an increased surgical risk. Methods Thirty-three patients with acute cholecystitis (calculous,n=22; acalculous,n=11) underwent percutaneous cholecystostomy by means of a transhepatic (n=21) or transperitoneal (n=12) access route. Clinical and laboratory parameters were retrospectively studied to determine the benefit from cholecystostomy. Results All procedures were technically successful. Twenty-two (67%) patients improved clinically within 48 hr; showing a significant decreased in body temperature (n=13), normalization of the white blood cell count (n=3), or both (n=6). There were 6 (18%) minor/moderate complications (transhepatic access,n=3; transperitoneal access,n=3). Further treatment for patients with calculous cholecystitis was cholecystectomy (n=9) and percutaneous and endoscopic stone removal (n=8). Further treatment for patients with acalculous cholecystitis was cholecystectomy (n=2) and gallbladder ablation (n=2). There were 4 deaths (12%) either in hospital or within 30 days of drainage; none of the deaths was procedure-related. Conclusion Percutaneous cholecystostomy is a safe and effective procedure for patients with acute cholecystitis. For most patients with acalculous cholecystitis percutaneous cholecystostomy may be considered a definitive therapy. In calculous disease this treatment is often only temporizing and a definitive surgical, endoscopic, or radiologic treatment becomes necessary.     

High-dose steroids,ursodeoxycholic acid,and chronic intravenous antibiotics improve bile flow after Kasai procedure in infants with biliary atresia

Background/Purpose: Early reports suggest that the use of steroids after Kasai portoenterostomy may improve bile flow and outcome in infants with biliary atresia. Methods: Of 28 infants with biliary atresia, half received adjuvant high-dose steroids, and half received standard therapy. Infants in the steroid group (n = 14) received intravenous solumedrol (taper of 10, 8, 6, 5, 4, 3, 2 mg/kg/d), followed by 8 to 12 weeks of prednisone (2 mg/kg/d). The steroid protocol also included ursodeoxycholic acid indefinitely and intravenous antibiotics for 8 to 12 weeks followed by oral antibiotic prophylaxis. Infants in the standard therapy group (n = 14) received no steroids, occasional ursodeoxycholic acid, and perioperative intravenous antibiotics followed by oral antibiotic prophylaxis. The infants were not assigned randomly, but rather received standard therapy or adjuvant steroid therapy according to individual surgeon preference. Results: Eleven of 14 (79%) in the steroid group and 3 of 14 (21%) in the standard therapy group had a conjugated bilirubin level less than 1.0 within 3 to 4 months of surgery (P [lt ] .001). Fewer patients in the steroid group (21% v 85%) required liver transplantation or died during the first year of life (P [lt ] .001). Infants in the steroid group did better despite the fact that this group included 5 infants with biliary atresia-polysplenia-heterotaxia syndrome, a subgroup that might have been expected to have a poor prognosis. Neither bile duct size nor liver histology was a reliable predictor of success or failure in either group. Conclusions: Adjuvant therapy using high-dose steroids, ursodeoxycholic acid, and intravenous antibiotics may accelerate the clearance of jaundice and decrease the need for early liver transplantation after Kasai portoenterostomy. J Pediatr Surg 38:406-411.     

Osmotic tolerance limits and properties of rhesus monkey (Macaca mulatta) spermatozoa

Fundamental cryobiological characteristics of rhesus spermatozoa must be determined for successful cryopreservation techniques to be established. The main objectives of the present study were to determine the osmotic behavior and osmotic tolerance limits of rhesus macaque spermatozoa. Cell volume changes over anisotonic conditions were assessed using an electronic particle counter and sperm motility was evaluated with a computer-assisted sperm analysis system. Analysis of membrane integrity and mitochondrial membrane potential was performed using flow cytometry. Rhesus monkey spermatozoa behave as linear osmometers in the osmotic range tested (75-900 mOsmol kg(-1)), as shown by the Boyle van't Hoff plot (r(2) =.99). Rhesus spermatozoa have a mean cell volume of 36.8 +/- 0.5 micro m(3) at 22 degrees C, with 77.2% of the intracellular volume being osmotically inactive. Results regarding sperm tolerance to osmotic stress showed that sperm motility was more sensitive than membrane integrity to deviations from isotonicity and, in addition, that rhesus sperm motility and membrane integrity were more sensitive to hypertonic than hypotonic conditions. Mitochondrial membrane potential did not explain the lack of sperm motility observed under anisosmolal conditions in our study. Although most spermatozoa were able to recover initial volume after osmotic stress, they were not able to recover initial motility.     

咪达唑仑复合氯胺酮应用于小儿基础麻醉的临床探讨

 目的 探讨应用咪达唑仑复合氯胺酮不同给药方法在小儿基础麻醉中的优化方案.方法 200例1～6岁,ASAⅠ～Ⅱ级患儿随机分成以下五组:A组为口服咪达唑仑0.7 mg/kg;B组为口服氯胺酮8 mg/kg;C组为肌注氯胺酮5mg/kg;D组为口服咪达唑仑0.5 mg/kg和氯胺酮4 mg/kg;E组为先口服咪达唑仑0.5 mg/kg,再肌注氯胺酮4 mg/kg.观察各组诱导结果及呼吸循环变化、不良反应.结果 ①A组与B组比较,A组起效更快(P<0.01),合作更好,不良反应较少;②A组、B组均比C组更合作,但不如C组起效更快;③D组和E组相比,患儿更合作,不良反应更少,但起效更慢,两组诱导效果无显著差异(P>0.05).结论 咪达唑仑复合氯胺酮优于单独给药,对循环呼吸影响小;口服给药可行性更佳.     

Anatomy, pathology, and MRI findings in the sports hernia

"Sports hernia" is a frequently used term on athletic injury reports and in the sportscasting media, but its true definition remains elusive in the medical literature. Magnetic resonance imaging (MRI) is a useful tool in the evaluation of clinical athletic pubalgia, yet specific pathologies associated with this commonly encountered syndrome are poorly described in the imaging literature. In this article we review the musculoskeletal anatomy of the pubic region as well as several reproducible patterns of pathology on MRI we have encountered in patients with a clinical diagnosis of sports hernia.