Epidemiological Characteristics of Renal Colic and Climate-Related Causes in a Continental Area in Spain.

PURPOSE: The aim of this study was to analyze the incidence of renal colic (RC) in a northwestern area of Spain and its relationship with seasonal and meteorological characteristics. MATERIALS AND METHODS: We examined 700,257 cases that presented at the emergency room (ER) between 2005 and 2013. We reviewed data such as age, gender, arrival at ER, tests performed and destination after ER. Monthly data regarding temperature, humidity and hours of daylight were taken into account. The Student t-test, the Mann-Whitney test and the Chi-square test were used for the statistical analysis. RC visits were correlated with meteorological characteristics using the Pearson correlation coefficients. RESULTS: A total of 9,330 cases were diagnosed as RC episodes (1.41% of total cases presented). The age range was 14-100 years and mean age was 47 years. Prevalence in men was higher (55.6%) than in women (44.4%). After the seasonal decomposition analysis by month, a significant increase in RC incidence was observed in the months of June, July, August and December (107-114%). There is a statistically significant correlation between mean monthly temperature and RC visit rate (R 0.33, p < 0.001). CONCLUSION: The incidence of RC in our region is slightly higher than the one described in the literature. A significant increase in RCs is observed in the summer months, as well as a significant correlation between incidence and temperature.

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

The proteins encoded by the classical HLA class I and class II genes in the major histocompatibility complex (MHC) are highly polymorphic and are essential in self versus non-self immune recognition. HLA variation is a crucial determinant of transplant rejection and susceptibility to a large number of infectious and autoimmune diseases. Yet identification of causal variants is problematic owing to linkage disequilibrium that extends across multiple HLA and non-HLA genes in the MHC. We therefore set out to characterize the linkage disequilibrium patterns between the highly polymorphic HLA genes and background variation by typing the classical HLA genes and >7,500 common SNPs and deletion-insertion polymorphisms across four population samples. The analysis provides informative tag SNPs that capture much of the common variation in the MHC region and that could be used in disease association studies, and it provides new insight into the evolutionary dynamics and ancestral origins of the HLA loci and their haplotypes.

Former smoking, but not active smoking, is associated with delirium in postoperative ICU patients: a matched case-control study.

Objective: To examine the relationship between current and former smoking and the occurrence of delirium in surgical Intensive Care Unit (ICU) patients. Methods: We conducted a single center, case-control study involving 244 delirious and 251 non-delirious patients that were admitted to our ICU between 2018 and 2022. Using propensity score analysis, we obtained 115 pairs of delirious and non-delirious patients matched for age and Simplified Acute Physiology Score II (SAPS II). Both groups of patients were further stratified into non-smokers, active smokers and former smokers, and logistic regression was performed to further investigate potential confounders. Results: Our study revealed a significant association between former smoking and the incidence of delirium in ICU patients, both in unmatched (adjusted odds ratio (OR): 1.82, 95% confidence interval (CI): 1.17-2.83) and matched cohorts (OR: 3.0, CI: 1.53-5.89). Active smoking did not demonstrate a significant difference in delirium incidence compared to non-smokers (unmatched OR = 0.98, CI: 0.62-1.53, matched OR = 1.05, CI: 0.55-2.0). Logistic regression analysis of the matched group confirmed former smoking as an independent risk factor for delirium, irrespective of other variables like surgical history (p = 0.010). Notably, also respiratory and vascular surgeries were associated with increased odds of delirium (respiratory: OR: 4.13, CI: 1.73-9.83; vascular: OR: 2.18, CI: 1.03-4.59). Medication analysis showed that while Ketamine and Midazolam usage did not significantly correlate with delirium, Morphine use was linked to a decreased likelihood (OR: 0.27, 95% CI: 0.13-0.55). Discussion: Nicotine's complex neuropharmacological impact on the brain is still not fully understood, especially its short-term and long-term implications for critically ill patients. Although our retrospective study cannot establish causality, our findings suggest that smoking may induce structural changes in the brain, potentially heightening the risk of postoperative delirium. Intriguingly, this effect seems to be obscured in active smokers, potentially due to the recognized neuroprotective properties of nicotine. Our results motivate future prospective studies, the results of which hold the potential to substantially impact risk assessment procedures for surgeries.

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.

Nonsense SNPs introduce premature termination codons into genes and can result in the absence of a gene product or in a truncated and potentially harmful protein, so they are often considered disadvantageous and are associated with disease susceptibility. As such, we might expect the disrupted allele to be rare and, in healthy people, observed only in a heterozygous state. However, some, like those in the CASP12 and ACTN3 genes, are known to be present at high frequencies and to occur often in a homozygous state and seem to have been advantageous in recent human evolution. To evaluate the selective forces acting on nonsense SNPs as a class, we have carried out a large-scale experimental survey of nonsense SNPs in the human genome by genotyping 805 of them (plus control synonymous SNPs) in 1,151 individuals from 56 worldwide populations. We identified 169 genes containing nonsense SNPs that were variable in our samples, of which 99 were found with both copies inactivated in at least one individual. We found that the sampled humans differ on average by 24 genes (out of about 20,000) because of these nonsense SNPs alone. As might be expected, nonsense SNPs as a class were found to be slightly disadvantageous over evolutionary timescales, but a few nevertheless showed signs of being possibly advantageous, as indicated by unusually high levels of population differentiation, long haplotypes, and/or high frequencies of derived alleles. This study underlines the extent of variation in gene content within humans and emphasizes the importance of understanding this type of variation.

Exploratory analysis on the usage of Pi-score algorithm over endoscopic stone treatment step 1 protocol.

BACKGROUND: The Performance Improvement score (Pi-score) has been proven to be reliable to measure performance improvement during E-BLUS hands-on training sessions. Our study is aimed to adapt and test the score to EST s1 (Endoscopic Stone Treatment step 1) protocol, in consideration of its worldwide adoption for practical training. METHODS: The Pi-score algorithm considers time measurement and number of errors from two different repetitions (first and fifth) of the same training task and compares them to the relative task goals, to produce an objective score. Data were obtained from the first edition of 'ART in Flexible Course', during four courses in Barcelona and Milan. Collected data were independently analyzed by the experts for Pi assessment. Their scores were compared for inter-rater reliability. The average scores from all tutors were then compared to the PI-score provided by our algorithm for each participant, in order to verify their statistical correlation. Kappa statistics were used for comparison analysis. RESULTS: Sixteen hands-on training expert tutors and 47 3rd-year residents in Urology were involved. Concordance found between the 16 proctors' scores was the following: Task 1=0.30 ("fair"); Task 2=0.18 ("slight"); Task 3=0.10 ("slight"); Task 4=0.20, ("slight"). Concordance between Pi-score results and proctor average scores per-participant was the following: Task 1=0.74 ("substantial"); Task 2=0.71 ("substantial"); Task 3=0.46 ("moderate"); Task 4=0.49 ("moderate"). CONCLUSIONS: Our exploratory study demonstrates that Pi-score can be effectively adapted to EST s1. Our algorithm successfully provided an objective score that equals the average performance improvement scores assigned by of a cohort of experts, in relation to a small amount of training attempts.

Intravesical sealing of the distal ureter in nephroureterectomy.

OBJECTIVES: To study the effectiveness and reliability of a new minimally invasive technique for the treatment of the terminal ureter in nephroureterectomy due to transitional cell carcinoma, both in open and laparoscopic procedures. METHODS: Observational retrospective study of 14 patients that underwent intravesical sealing and endoscopic excision of terminal ureter, before ureterectomy (11 laparoscopic, 3 open), due to an upper urinary tract tumor, between July 2003 and November 2007. This procedure was performed on 11 males and 3 females, average age 59.5 years, )range: 35-70). The tumor settled on the renal pelvis in 12 cases and on the proximal ureter in 2. Stage was Ta - T1 in 10 patients, T2 in 3, and T3 in 1. Tumor grade was G3 in 9 cases and G2 in 5. Excision was carried out with a Collins knife. In order to avoid contact between the urine and retroperitoneal space, the meatus was quickly sealed with a clip introduced by means of a transvesical trocar. RESULTS: Total surgical time of nephroureterectomy was 231.15 minutes (range 200-340). Global complication rate for the procedure was 28.4%, but the rate for the cases associated with this technique (meatus sealing and disinsertion) was 14.2%. All patients were discharged after removing bladder catheter. Mean hospital stay was 10.14 days (range: 6-22). After an average follow-up of 25.3 months (range: 12-64), no retroperitoneal recurrence has been reported. One of the patients had bladder recurrence and another one developed metastasis to the suprarenal gland that was treated satisfactorily. CONCLUSIONS: Quick sealing of distal ureter by transvesical application of a clip before its endoscopic excision in nephrourecterectomy is a sound technique from an oncological point of view, with an acceptable complication rate that avoids a second open time to manage distal ureter.

Proportional assist ventilation feasibility in the early stage of respiratory failure: a prospective randomized multicenter trial.

BACKGROUND: Proportional assist ventilation (PAV+) is an assisted ventilator mode usually applied during weaning. We aimed to determine the feasibility of using PAV+ in the early phase of acute respiratory failure compared to volume-assist control ventilation (V-ACV) in order to shorten the length of mechanical ventilation (MV). METHODS: We conducted a prospective randomized trial comparing high-assistance PAV+ (gain 80%) vs. V-ACV in four university hospital Intensive Care Units. Patients were included based on a previous pilot trial. Length of MV was the main objective. Secondary objectives were length of stay (LOS) in ICU/hospital, and ICU/hospital/60-day mortality. Statistics - Mann-Whitney U Test and Fisher's Exact Test. RESULTS: We could not find differences in length of MV or any of the analyzed variables between the 52 patients with PAV+ and 50 patients with V-ACV. The high PAV+ failure rate (42%) was attributed to excessive sedation, high respiratory rate, and high respiratory effort. CONCLUSIONS: The use of high-assistance PAV+ in the early phase of MV does not present benefits compared to V-ACV. The high rate of PAV+ failure reinforces the need for sedative optimization, learning curve, and better patient selection.

Relevant pericardial effusion caused by cytomegalovirus infection in an immunocompetent patient: a case report.

BACKGROUND: Cytomegalovirus infection is known to cause symptomatic disease in immunocompromised patients, while an infection in immunocompetent individuals normally causes few or no symptoms. We present the case of an immunocompetent adult patient with unexpected severe evolution. CASE PRESENTATION: An otherwise healthy, 72-year-old Caucasian woman presented with complaints of progressive shoulder pain and dyspnoea on exertion. The blood test results showed elevated inflammation parameters and elevated hepatic transaminase levels. Radiologic examinations were carried out, and the computed tomography scan revealed a hepatomegaly and a chest X-ray showed evidence of a unilateral pleural effusion. A transthoracic echocardiography detected pericardial effusion with consecutive hemodynamic changes. Since it was considered that using ultrasound-guided pericardiocentesis could significantly increase the risk of liver injury due to hepatomegaly, a pericardial window was performed instead. Further investigation showed that our patient tested positive for an acute cytomegalovirus infection in the serologic tests. Laboratory findings included new evidence of immunoglobulin M seroconversion and high immunoglobulin G avidity, so we considered the possibility that a former cytomegalovirus infection may be coexisting with a new cytomegalovirus reinfection. CONCLUSIONS: In immunocompetent individuals, a symptomatic cytomegalovirus primary infection or reinfection should be considered in patients presenting with pericardial effusion and serositis.

Massive Arteriovenous Malformation with Stroke-Like Presentation.

We report of a 75-year-old patient with stroke-like presentation, where cerebral imaging led to the diagnosis of a massive arteriovenous malformation (AVM) of the whole left hemisphere. We suggest considering AVM as a differential diagnosis in patients with symptoms of acute stroke despite age and, in the absence of contraindications, in this setting to obtain MRI or CT angiography of the brain.

[TRUS-guided biopsy: comparison of two anesthetic methods]. / Biopsia prostática ecodirigida: comparación de dos métodos anestésicos.

PURPOSE: The aim of the present study is to compare two analgesic techniques for ultrasound transrectal biopsy. Oral analgesia vs periprosthetic nerve blockade with 2% mevicaine. PATIENTS AND METHODS: A total of 200 patients were randomized prospectively into 2 groups, namely group I: 100 patients treated with metamizol, oral morphine 30 minutes before the procedure, and group II: 100 patients anesthesied with periprosthetic nerve blockade with 2% mepivacaine. Both groups were treated with bromacepán 3 mg 30 minutes before the biopsy. The first intention was to obtain 10 core TRUS-guided biopsy in all patients underwent. After the procedure, a ten visual analogue pain score (VAS) from 0 = no discomfort to 10 = severe pain was administered to the biopsied patients and a global estimation of pain associated with the procedure was obtained. Test T de Student was used for statistical analysis. RESULTS: There were no significant differences in age, PSA and prostate volume. 3 core TRUS-guided biopsy were obtain in group I (3 +/- 1.3), and 10 in group II (5 +/- 1.2) In the periprosthetic block group (II) 95% of patients referred no pain after the procedure (VAS = 0), 2% middle pain (VAS = 5-6) and 3% strong pain (VAS = 7-8); while patients in group I referred 12.5% no pain, 42.4% middle pain, 20% strong pain. The level of pain reported by this group of patients was significantly different from those reported by patients who performed prostate biopsy with periprosthetic nerve blockade. (p < or = 0.05). There were no significant differences in major complications. CONCLUSIONS: The use of bilateral periprosthetic block with mepivacaine is a very effective and useful technique, well tolerated by the patient, which almost completely abolishes the pain and discomfort associated with the prostate biopsy procedure. And also allows increase the number of cores.

Laparoscopic Pyeloplasty: Always Dismembered?

OBJECTIVE: To compare three laparoscopic surgical techniques for the treatment of ureteropelvic junction obstruction (UPJO), assessing their difficulty, operating time, effectiveness, and complications. MATERIALS AND METHODS: The clinical histories of 54 patients with UPJO who underwent a laparoscopic procedure between June 2003 and September 2013 were reviewed. Anderson-Hynes (A-H) pyeloplasty was performed on 34 patients, nondismembered pyeloplasty on 11 cases (8 Y-V Foley plasty and 3 Fenger plasty), and cephalad vascular displacement or Hellström technique (HT) on 9 patients. The patients were selected for the different techniques depending on the findings during the procedures, according to renal pelvic size and the presence of crossing vessels. We compared the techniques according to intraoperative and postoperative outcomes. Complications were interpreted following the Clavien-Dindo classification. The success rate was defined as the absence of clinical symptoms and normal diuretic renography. Analysis of variance and chi-square tests were used for the statistical analysis. RESULTS: Mean follow-up was 55.58 months. The success rate achieved was 88.5% for A-H pyeloplasty, 90.9% for nondismembered pyeloplasty, and 100% for HT (p > 0.05). HT was the least time-consuming: 124 ± 30 vs 202 ± 44 minutes of A-H pyeloplasty and 147 ± 27 minutes of nondismembered plasty (p < 0.005). Mean hospital stay was 6.7 ± 1.4 days for A-H pyeloplasty, 6.6 ± 2 days for nondismembered pyeloplasty, and 3.42 ± 1.5 days for HT (p < 0.05). The postoperative complication rate was 21.1% for A-H pyeloplasty, 18.8% for nondismembered pyeloplasty, and 12.5% for HT (p > 0.05). None of the cases required open surgery, and urinary fistula was the most frequent complication. CONCLUSION: Intraoperative observation of ureteropelvic junction allows selecting cases to undergo nondismembered pyeloplasty techniques, achieving similar results to A-H pyeloplasty, reducing operating time, complication rate, and hospital stay.

Assessment of the Effectiveness, Safety, and Reproducibility of Micro-Ureteroscopy in the Treatment of Distal Ureteral Stones in Women: A Multicenter Prospective Study.

PURPOSE: The aim of this study is to assess the effectiveness, safety, and reproducibility of the micro-ureteroscopy (m-URS) in the treatment of distal ureteral stones in women. MATERIALS AND METHODS: A multicenter, prospective observational study was designed and conducted between March and December 2015. We included women having at least one stone in the distal ureter and being a candidate for surgical treatment using the 4.85F sheath of MicroPerc®. Patients with clinical criteria and/or laboratory analysis indicating sepsis or coagulation alteration were excluded. RESULTS: Thirty-nine women were operated in eight hospitals. The profile of the patients was fairly homogeneous among hospitals. Only differences were found in age, preoperative stent, and the result of the previous urine culture. Immediate stone-free status was achieved in 88.2% and 100% 7 days after the procedure. 97.4% of patients did not present any complication in the postoperative period, with only one case with complication Clavien II. Postureteroscopic Lesion Scale (PULS) in 76.9% of patients did not show any injury, 20.5% had lesions grade 1, and grade 2 lesions 2.6%. As for the reproducibility of m-URS between hospitals, statistical analysis of the results showed differences between all the centers participating in the study. CONCLUSIONS: m-URS is an effective, safe, and reproducible technique that minimizes surgical aggression to the ureteral anatomy. Satisfactory and comparable results to "conventional" ureteroscopy were obtained in the treatment of distal ureteral stones in women, although clinical trials are needed. The reduction of the ureteral damage may reduce secondary procedures and increase the cost-effectiveness of the procedure.

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

OBJECTIVE: Single nucleotide polymorphisms (SNPs) in the P2 promoter region of HNF4A were originally shown to be associated with predisposition for type 2 diabetes in Finnish, Ashkenazi, and, more recently, Scandinavian populations, but they generated conflicting results in additional populations. We aimed to investigate whether data from a large-scale mapping approach would replicate this association in novel Ashkenazi samples and in U.K. populations and whether these data would allow us to refine the association signal. RESEARCH DESIGN AND METHODS: Using a dense linkage disequilibrium map of 20q, we selected SNPs from a 10-Mb interval centered on HNF4A. In a staged approach, we first typed 4,608 SNPs in case-control populations from four U.K. populations and an Ashkenazi population (n = 2,516). In phase 2, a subset of 763 SNPs was genotyped in 2,513 additional samples from the same populations. RESULTS: Combined analysis of both phases demonstrated association between HNF4A P2 SNPs (rs1884613 and rs2144908) and type 2 diabetes in the Ashkenazim (n = 991; P < 1.6 x 10(-6)). Importantly, these associations are significant in a subset of Ashkenazi samples (n = 531) not previously tested for association with P2 SNPs (odds ratio [OR] approximately 1.7; P < 0.002), thus providing replication within the Ashkenazim. In the U.K. populations, this association was not significant (n = 4,022; P > 0.5), and the estimate for the OR was much smaller (OR 1.04; [95%CI 0.91-1.19]). CONCLUSIONS: These data indicate that the risk conferred by HNF4A P2 is significantly different between U.K. and Ashkenazi populations (P < 0.00007), suggesting that the underlying causal variant remains unidentified. Interactions with other genetic or environmental factors may also contribute to this difference in risk between populations.

Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response.

Cyclic nucleotide phosphodiesterases (PDEs) constitute a family of enzymes that degrade cAMP and cGMP. Intracellular cyclic nucleotide levels increase in response to extracellular stimulation by hormones, neurotransmitters, or growth factors and are down-regulated through hydrolysis catalyzed by PDEs, which are therefore candidate therapeutic targets. cAMP is a second messenger implicated in learning, memory, and mood, and cGMP modulates nervous system processes that are controlled by the nitric oxide (NO)/cGMP pathway. To investigate an association between genes encoding PDEs and susceptibility to major depressive disorder (MDD), we genotyped SNPs in 21 genes of this superfamily in 284 depressed Mexican Americans who participated in a prospective, double-blind, pharmacogenetic study of antidepressant response, and 331 matched controls. Polymorphisms in PDE9A and PDE11A were found to be associated with the diagnosis of MDD. Our data are also suggestive of the association between SNPs in other PDE genes and MDD. Remission on antidepressants was significantly associated with polymorphisms in PDE1A and PDE11A. Thus, we found significant associations with both the diagnosis of MDD and remission in response to antidepressants with SNPs in the PDE11A gene. We show here that PDE11A haplotype GAACC is significantly associated with MDD. We conclude that PDE11A has a role in the pathophysiology of MDD. This study identifies a potential CNS role for the PDE11 family. The hypothesis that drugs affecting PDE function, particularly cGMP-related PDEs, represent a treatment strategy for major depression should therefore be tested.

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.

Autoimmune, inflammatory, and infectious diseases present a major burden to human health and are frequently associated with loci in the human major histocompatibility complex (MHC). Here, we report a high-resolution (1.9 kb) linkage-disequilibrium (LD) map of a 4.46-Mb fragment containing the MHC in U.S. pedigrees with northern and western European ancestry collected by the Centre d'Etude du Polymorphisme Humain (CEPH) and the first generation of haplotype tag single-nucleotide polymorphisms (tagSNPs) that provide up to a fivefold increase in genotyping efficiency for all future MHC-linked disease-association studies. The data confirm previously identified recombination hotspots in the class II region and allow the prediction of numerous novel hotspots in the class I and class III regions. The region of longest LD maps outside the classic MHC to the extended class I region spanning the MHC-linked olfactory-receptor gene cluster. The extended haplotype homozygosity analysis for recent positive selection shows that all 14 outlying haplotype variants map to a single extended haplotype, which most commonly bears HLA-DRB1*1501. The SNP data, haplotype blocks, and tagSNPs analysis reported here have been entered into a multidimensional Web-based database (GLOVAR), where they can be accessed and viewed in the context of relevant genome annotation. This LD map allowed us to give coordinates for the extremely variable LD structure underlying the MHC.

[Laparoscopic pyeloplasty. Our experience]. / Pieloplastia laparoscópica. Nuestra experiencia.

OBJECTIVES: To report our experience with laparoscopic pyeloplasty in the treatment of pyeloureteral junction obstruction. METHODS: Between August 2001 and August 2004 14 patients with the diagnosis of pyeloureteral junction obstruction underwent laparoscopic repair. Seven cases had the obstruction on the left side and the other seven on the right side. We describe the technique of laparoscopic dismembered Anderson-Hynes type pyeloplasty, performed to 12 patients in our series. The remainder 2 patients underwent Foley's Y-V plasty and the Fenger's technique. RESULTS: Mean operative time was 199.7 minutes (r: 126-290). There were not intraoperative complications. Mean hospital stay was 4.63 days (r: 3-9). One case of double J catheter obstruction can be cited as late postoperative complication. Only one of the 14 cases suffered a recurrence of the stenosis after double J catheter retrieval. CONCLUSIONS: Laparoscopic pyeloplasty has become the operation of choice in cases of hydronephrosis secondary to crossing vessel, when there is great pyelic dilation, and for the treatment of failures of previous endopyelotomy.