National Referral Center Research Articles

Springs Produce Favorable Morphologic Outcomes Relative to H-Craniectomy According to a Two-Center Comparison of Matched Cases.

Sagittal synostosis is the most common type of premature suture closure, and many surgical techniques are used to correct scaphocephalic skull shape. Given the rarity of direct comparisons of different surgical techniques for correcting craniosynostosis, this study compared outcomes of craniotomy combined with springs and H-craniectomy for nonsyndromic sagittal synostosis. Comparisons were performed using available preoperative and postoperative imaging and follow-up data from the 2 craniofacial national referral centers in Sweden, which perform 2 different surgical techniques: craniotomy combined with springs and H-craniectomy (the Renier technique). The study included 23 pairs of patients matched for sex, preoperative cephalic index, and age. Cephalic index, total intracranial volume (ICV), and partial ICV were measured before surgery and at 3 years of age, with volume measurements compared against those of preoperative and postoperative controls. Perioperative data included operation time, blood loss, volume of transfused blood, and length of hospital stay. Craniotomy combined with springs resulted in less bleeding and lower transfusion rates than H-craniectomy. Although the spring technique requires 2 operations, the mean total operation time was similar for the methods. Of the 3 complications that occurred in the group treated with springs, 2 were spring-related. The compiled analysis of changes in cephalic index and partial volume distribution revealed that craniotomy combined with springs resulted in superior morphologic correction. The findings showed that craniotomy combined with springs normalized cranial morphology to a greater extent than H-craniectomy based on changes in cephalic index and total and partial ICVs over time. Therapeutic, III.

Perinatal outcome after selective fetal reduction in monochorionic twin pregnancies: A comparison of techniques over a 20-year period.

To assess the perinatal outcome after fetal reduction in complicated monochorionic (MC) twin pregnancies by comparing different techniques. A retrospective cohort study at a national referral center comparing data between four techniques: interstitial laser coagulation, radiofrequency ablation (RFA), fetoscopic laser coagulation (FLC) and bipolar cord coagulation (BCC). The primary outcome was the mortality of the co-twins. Secondary outcomes were preterm pre-labor rupture of membranes (PPROM), gestational age at delivery and neonatal morbidity. 259MC twin pregnancies underwent selective fetal reduction: 29 IL, 64 RFA, 85 FLC and 81 BCC. The perinatal mortality rate was 29% and fetal demise of the co-twins occurred in 19%. The lowest mortality rate was seen after BCC (17%, p=0.012). PPROM occurred in 18% patients without significant differences between techniques. The mean gestational age at delivery in liveborn children was 35weeks and did not differ between techniques. Severe cerebral injury and neonatal morbidity were reported in 4% and 14%, respectively, without significant differences between techniques. Selective fetal reductions in MC twins are precarious procedures with an increased risk of perinatal mortality of the co-twins. Our results show the lowest mortality rates after BCC. However, high PPROM rates were seen irrespective of the technique.

Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung’s disease – a method description and preliminary report

BackgroundOptimizing rectal suction biopsy (RSB) diagnostics in Hirschsprung’s disease (HD) may shorten diagnostic time and prevent need for repeated biopsies.AimTo explore whether systematic orientation of fresh RSB specimens increased biopsy quality, diagnostic times, diagnostic efficacy, and histopathologic workload, and to explore these outcome measures for aganglionic specimens.Materials/MethodsThis was an observational case-control study conducted at a national referral center for HD on data collected from the local HD-diagnostic register. From 2019 each fresh RSB was oriented by the collector in a notch in a foam cushion, placed in a separate cassette, and sent in formalin for pathological analysis. Outcome measures of oriented RSB samples collected 2019–2021 were compared to those of non-oriented RSB samples collected 2015–2018. Staining/immunohistochemistry consisted of hematoxylin eosin, S-100 and calretinin.Results78 children with 81 RSBs and 242 biopsy analyzes were included. The frequency of high-quality RSB specimens was higher in oriented: 40% (42/106) versus non-oriented 25% (34/136) (p = 0.018), the diagnostic turnaround time was shorter: 2 days (1–5) versus 3 days (2–8) (p = 0.015), and the number of additional sectioning/leveling/re-orientation per biopsy was lower: 7 (3–26) versus 16 (7–72) (p = 0.011). Specifically for aganglionic specimens, the frequency of high-quality biopsies was generally higher in oriented than in non-oriented RSB specimens: 47% (28/59) versus 14% (7/50) (p < 0.001); the diagnostic efficacy was higher 95% (19/20) versus 60% (9/15) (p = 0.027) and the diagnostic turnaround time shorter: 2 days (2–3) versus 3 days (2–8) (p = 0.036).ConclusionsSystematic orientation of fresh RSB specimens improves HD diagnostics. Improvement was consistent in aganglionic specimens.

Correlation between PSOGI pathological classification and survival outcomes of patients with pseudomyxoma peritonei treated using cytoreductive surgery and HIPEC: national referral centre experience and literature review.

The Peritoneal Surface Oncology Group International (PSOGI) consensus subdivided pseudomyxoma peritonei (PMP) into four groups according to histopathological features. The aim of this paper is to report survival outcomes after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) from a national referral centre and to correlate the PSOGI classification with survival. A retrospective study of a prospectively maintained database was performed. Consecutive patients treated with CRS+HIPEC for PMP of appendiceal origin were included (September-2013 to December-2021). Pathological features of the peritoneal disease were used to classify patients into the four groups proposed by PSOGI. Survival analysis was performed to evaluate the correlation of pathology on overall survival (OS) and disease-free survival (DFS). Overall, 104 patients were identified; 29.6 % were reclassified as acellular mucin (AM), 43.9 % as low-grade mucinous carcinoma peritonei (LGMCP), 22.4 % as high-grade MCP (HGMCP) and 4.1 % as HGMCP with signet ring cells (HGMCP-SRC). Median PCI and rate of optimal cytoreduction were 19 and 82.7 %, respectively. Median OS and DFS were not reached, 5-year OS and DFS were 88.6(SD 0.04) % and 61.6(SD 0.06) %, respectively. Log-Rank test revealed significant differences in terms of OS and DFS across the different histological subgroups (p<0.001 in both cases). However, histology did not retain its significance in the multivariate analysis for OS or DFS (p=0.932 and p=0.872, respectively). Survival outcomes after CRS+HIPEC for PMP are excellent. The PSOGI pathological classification correlates with OS and DFS, but differences were not significant at multivariate analysis when adjusted for other prognostic factors.

“A Space Odyssey” on Laparoscopic Segmental Rectosigmoid Resection for Deep Endometriosis: A Seventeen-year Retrospective Analysis of Outcomes and Postoperative Complications among 3050 Patients Treated in a Referral Center

To evaluate the feasibility of laparoscopic rectosigmoid resection for bowel endometriosis (RSE), reporting surgical and short-term postoperative outcomes in a consecutive large series of patients. A retrospective cohort study. Third-level national referral center for deep endometriosis (DE). 3050 patients with symptomatic RSE requiring surgical treatment. Nerve-sparing laparoscopic resection for RSE perfomed by a multidisciplinary team. After collecting intraoperative surgical characteristics, postoperative complications were collected by evaluating the risk factors associated with their onset. Clavien-Dindo IIIb postoperative complications were noted in 13.1% of patients, with anastomotic leakage and rectovaginal fistula accounting for 3.0% and 1.9%, respectively. Postoperative bladder impairment was observed in 13.9% of patients during hospital discharge but spontaneously decreased to 4.5% at the first evaluation after 30 days, alongside a statistically significant change towards global symptom improvement. Multivariate analyses were done to identify the risk factors for segmental bowel resection in terms of occurrence of postoperative major complications. Ultralow (≤5 cm from the anal verge), low rectal anastomosis (<8 cm, >5 cm), parametrectomy, vaginal resection, and previous surgeries seemed more related to anastomotic leakage, rectovaginal fistula, and bladder retention. Laparoscopic rectosigmoid resection for RSE seems an effective and feasible procedure. The surgical complication rate is not negligible but could be reduced by implementing a multidisciplinary approach, an endless improvement in nerve-sparing techniques and surgical anatomy, as well as technological enhancements. Real future challenges will be to reduce the time for the first diagnosis of DE and the likelihood of surgical indications.

Multiorgan Involvement of Dormant Uveal Melanoma Micrometastases in Postmortem Tissue From Patients Without Coexisting Macrometastases.

Almost half of all patients diagnosed with uveal melanoma will die of metastatic disease. This has been attributed to early seeding of micrometastases. We investigate the presence, density, organ involvement, and characteristics of micrometastases of uveal melanoma in tissue obtained at autopsy of patients with and without coexisting macrometastases. Patients diagnosed with primary uveal melanoma at a national referral center between 1960 and 2020 (n = 4,282) were cross-referenced with autopsy registers at nearby hospitals. Eleven patients were included. Formalin-fixed, paraffin-embedded tissue samples obtained during autopsy were examined with routine histology, immunohistochemistry, and immunomagnetic separation. Micrometastases were detected in 5 of 5 patients with and in 5 of 6 patients without coexisting macrometastases. Micrometastases were identified in several sites, including lungs, kidneys, myocardium, and bone marrow. Their highest density per mm2 of tissue was seen in the liver. Of 11 examined patients, 2 had at least 1 BAP-1-positive metastasis. All micrometastases had immune cell infiltrates and no or very low proliferative activity. We demonstrate multiorgan involvement of apparently dormant micrometastases in patients with uveal melanoma. This suggests that micrometastases are present in nearly all patients diagnosed with primary uveal melanoma, regardless of coexisting macrometastases.

Clinical characteristics and diagnosis of intestinal tuberculosis in clinical practice at Thailand's largest national tertiary referral center: An 11-year retrospective review.

Diagnosing intestinal tuberculosis (ITB) is challenging due to the low diagnostic sensitivity of current methods. This study aimed to assess the clinical characteristics and diagnosis of ITB at our tertiary referral center, and to explore improved methods of ITB diagnosis. This retrospective study included 177 patients diagnosed with ITB at Siriraj Hospital (Bangkok, Thailand) during 2009-2020. The mean age was 49 years, 55.4% were male, and 42.9% were immunocompromised. Most diagnoses (108/177) were made via colonoscopy; 12 patients required more than one colonoscopy. Among those, the sensitivity of tissue acid-fast bacilli (AFB), presence of caseous necrosis, polymerase chain reaction (PCR), and culture was 40.7%, 13.9%, 25.7%, and 53.4%, respectively. Among patients with negative tissue histopathology, 4 (3.7%) and 13 (12.0%) were ITB positive on tissue PCR and culture, respectively. The overall sensitivity when all diagnostic methods were used was 63%. Seventy-six patients had stool tests for mycobacteria. The overall sensitivity of stool tests was 75.0%. However, when analyzing the 31 patients who underwent both endoscopy and stool testing, the sensitivity of stool testing when using tissue biopsy as a reference was 45.8%. Combining stool testing and tissue biopsy did not significantly increase the sensitivity compared to tissue biopsy alone (83.9% vs. 77.4%, respectively). Despite the availability of PCR and culture for TB, the overall diagnostic sensitivity was found to be low. The sensitivity increased when the tests were used in combination. Repeated colonoscopy may be beneficial. Adding stool mycobacteria tests did not significantly increase the diagnostic yield if endoscopy was performed, but it could be beneficial if endoscopy is unfeasible.

Optical Coherence Tomography Angiography Assessment in Congenital Aniridia

This study aims to characterize foveal vasculature assessed by optical coherence tomography angiography (OCT-A) in congenital aniridia which is hallmarked by foveal hypoplasia (FH). Cross-sectional case-control analysis. At the National Referral Center for congenital aniridia, patients with confirmed PAX6-related aniridia and FH diagnosed on spectral-domain OCT (SD-OCT) with available OCT-A and matched control subjects were included. OCT-A was performed in patients with aniridia and control subjects. Foveal avascular zone (FAZ) and vessel density (VD) were collected. VD in the foveal and parafoveal areas at the level of the superficial and deep capillary plexi (SCP and DCP, respectively) were compared between the 2 groups. In patients with congenital aniridia, correlation between VD and the grading of FH was assessed. Among 230 patients with confirmed PAX6-related aniridia, high-quality macular B-scans and OCT-A were available in 10 patients. On the foveal area, mean VD was higher in aniridia patients (41.10%, n=10) than in control subjects (22.65%, n=10) at the level of the SCP and the DCP (P=.0020 and P=.0273, respectively). On the parafoveal area, mean VD was lower in patients with aniridia (42.34%, n=10) than in healthy subjects (49.24%, n=10) at the level of both plexi (P=.0098 and P=.0371, respectively). In patients with congenital aniridia, a positive correlation was found between the grading of FH and the foveal VD at the SCP (r=0.77, P=.0106). Vasculature is altered in PAX6-related congenital aniridia, higher in foveal and lower in parafoveal areas, especially when FH is severe, which is consistent with the concept that the absence of retinal blood vessels is essential for foveal pit development.

MP33-08 PENILE CANCER CARE IN THE NETHERLANDS OVER THREE DECADES: INCREASED INCIDENCE, CENTRALISATION OF CARE, AND OVERALL SURVIVAL

You have accessJournal of UrologyCME1 Apr 2023MP33-08 PENILE CANCER CARE IN THE NETHERLANDS OVER THREE DECADES: INCREASED INCIDENCE, CENTRALISATION OF CARE, AND OVERALL SURVIVAL Manon Vreeburg, Hielke-Martijn de Vries, Henk van der Poel, and Oscar Brouwer Manon VreeburgManon Vreeburg More articles by this author , Hielke-Martijn de VriesHielke-Martijn de Vries More articles by this author , Henk van der PoelHenk van der Poel More articles by this author , and Oscar BrouwerOscar Brouwer More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003266.08AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The process of centralization of Penile Squamous Cell Carcinoma (PSCC) care in the Netherlands was initiated around 1990 and based on acknowledgement of one national center of expertise. Other regional PSCC centers should have an annual caseload of ≥10 T1aG1 patients per year and experience in high-level multidisciplinary care. The aim of this study was to evaluate incidence and centralization trends, and the potential benefit on overall survival of centralization of PSCC care in the Netherlands. METHODS: All new PSCC diagnoses between 1990-2020 were retrospectively identified from the Netherlands Cancer Registry (NCR), a population-based cancer registry with nationwide coverage. Cancer diagnoses are reported by registry of histology after which the NCR can provide per-patient data on age, clinical and pathological tumor staging, follow-up and vital status. All patients that were treated in the national referral center (NCI, Amsterdam) were known, all other patients were treated at one of the regional centers (anonymity kept by NCR). Overall survival (OS) was calculated with multivariate cox regression analysis, with T- and N-stage, treatment at the NCI (y/n) and age as independent variables. RESULTS: In total, 3276 patients were diagnosed with PSCC in the Netherlands. There was a significant incidence increase, from 0.92 per 100,000 men in 1990 to 1.83 per 100,000 men in 2020. The percentage of NCI-patients increased from 1% to 63% during this period, while in other centers it decreased from 99% to 37%. The median age of NCI-patients was 68 years and 70 years in other centers. At the NCI, 27% of the patients had lymph node metastases (pN+), compared to 10% in other centers (p-value<0.001). Despite of this, and corrected for T-, N-stage and age, the OS of NCI-patients was higher compared to patients in other centers (HR 1.29, 95% CI 1.13–1.47, p-value=0.001). The median OS at the NCI is 10 years (IQR 9–11 years) and in other centers 7 years (IQR 7–8 years). CONCLUSIONS: PSCC incidence in the Netherlands is rising and centralization of care has increased. Despite a relatively higher N-stage at presentation, patients treated at the national referral center of expertise seem to have higher OS, suggesting a beneficial effect of centralized care. Source of Funding: No conflict of interest to declare © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e453 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Manon Vreeburg More articles by this author Hielke-Martijn de Vries More articles by this author Henk van der Poel More articles by this author Oscar Brouwer More articles by this author Expand All Advertisement PDF downloadLoading ...

Muscle strength is reduced in children with pulmonary arterial hypertension.

Muscle strength is decreased in adults with pulmonary arterial hypertension (PAH). We aim to investigate muscle strength in children with PAH in relation to a cohort of healthy children, and investigate correlations with disease severity markers. This prospective study included children with PAH aged 4-18 years, who visited the Dutch National Referral Center for Pulmonary Hypertension in Childhood between October 2015 and March 2016. Muscle strength was assessed using handgrip strength and maximum voluntary isometric contractility (MVIC) of four peripheral muscles. Dynamic muscle function was evaluated with the Bruininks-Oseretsky test of motor proficiency (BOT-2). These measurements were compared with those in two cohorts of healthy children and correlated with 6-minute walk distance (6MWD), World Health Organization functional class (WHO-FC), N-terminal pro-brain natriuretic peptide (NT-proBNP), and time since diagnosis. Eighteen children with PAH aged 14.0 [interquartile range: 9.9-16.0] years showed reduced muscle strength. Handgrip strength z-score -2.4 ± 1.2, p < 0.001, total MVIC z-score -2.9 ± 1.2, p < 0.001, and BOT-2 z-score -1.0 ± 0.9, p < 0.001. 6MWD (67 ± 11% predicted) correlated with most muscle measurements (r = 0.49-0.71, p = 0.001). Dynamic muscle function (BOT-2) differed between WHO-FC, whereas handgrip strength and MVIC did not. NT-proBNP and time since diagnosis did not show significant correlations with muscle strength measurements. Muscle strength was significantly reduced in children with PAH and correlated with 6MWD, but not with disease severity markers WHO-FC and NT-pro-BNP. The nature of this reduced muscle strength is yet unclear, but its occurrence in children with seemingly mild or well-controlled PAH supports the concept of PAH being a systemic syndrome involving peripheral skeletal muscles.

Silicone septal splint for recurrent epistaxis in HHT patients: experience of a national referral centre.

To report our experience in the use of silicone septal splint for recurrent severe epistaxis in hereditary haemorrhagic telangiectasia patients (HHT). This is a descriptive analysis carried out at the Otorhinolaryngology Department of Fondazione IRCCS Policlinico San Matteo in Pavia, a reference centre for the treatment and diagnosis of HHT. We retrospectively evaluated HHT patients who underwent silicone septal splint positioning after the endoscopic surgical treatment of epistaxis from 2000 to 2022. Of the 506 patients surgically treated in the period of analysis, 74 patients underwent silicone septal splint positioning and 37 were post-operatively interviewed. With a mean of 2.4 previous surgical treatments and a mean epistaxis severity of 7.38, the majority of patients presented with septal perforation (71.6%). On average, patients maintained the splint in place for 54.5 months, with a good tolerability and a significant reduction in epistaxis severity, need for blood transfusion and improvement of haemoglobin levels. In HHT patients with recurrent severe epistaxis and with septal perforation, the placement of septal splints offers a useful additional strategy in the management of nosebleeds.

Cardiac tele-rehabilitation in times of pandemic. Experience at the National Cardiovascular Institute INCOR in Lima-Peru

Cardiac Rehabilitation (CR) programs based on telehealth are an alternative in the context of a pandemic and represent an opportunity to continue in the intervention of cardiovascular diseases (CVD). The present study aims to evaluate the effect of a Cardiac Tele-Rehabilitation (CTR) program on quality of life, anxiety/depression index, exercise safety and Level Of disease awareness in patients discharged from a national referral institute in times of pandemic. A pre-experimental study in cardiac patients who entered the cardiac rehabilitation program at INCOR from August to December 2020. The study included low-risk patients who were administered a questionnaire (on cardiovascular disease, exercise safety, anxiety/depression, and quality of life) at the beginning and end of the program, which was applied through a virtual platform. Descriptive and comparative before-after analysis was used through hypothesis testing. Sixty-four patients were included (71.9% male). The mean age was 63.6 ±11.1 years. Regarding exercise safety, an increase in the mean score was found after the application of the program (3.06 ± 0.8 to 3.18 ± 0.7, p=0.324). Concerning anxiety, the mean score was reduced from 8.61 to 4.75, while for depression, the reduction was from 7.27 to 2.92. Regarding the quality-of-life score, the global component improved from 111.48 to 127.92. The CTR program implemented through a virtual platform during the COVID-19 pandemic enhanced quality of life and decreased stress and depression in cardiac patients discharged from a national cardiovascular referral center.

Genetic Status Affects Disease-Specific Mortality But Not the Incidence of Local Recurrence in Patients with Uveal Melanoma

Increased disease-specific mortality has been observed among patients with local recurrence (LR) from uveal melanoma (UM), but the underlying mechanism is unknown. The purpose of this study was to determine if copy number alterations of chromosomes 3 and/or 8q, at the time of diagnosis, increase the incidence of LR and if disease-specific mortality among patients with LR depends on the chromosome status of the primary tumor. Retrospective cohort study. The study included 239 consecutive patients with primary UM (choroidal or ciliary body) treated with Ruthenium-106 (Ru-106) brachytherapy from January 2009 to December 2019 at a single national referral center. Cox regression modeling and Kaplan-Meier analyses were used to assess the effect of the status of chromosomes 3 and 8q on the incidence of LR and disease-specific mortality after the event of LR. Multistate models were used to illustrate the probabilities over time of patients being alive and disease-free, alive with LR, dead from UM metastases, or dead from other causes split on the status of chromosomes 3 and 8q. Incidence of LR and disease-specific mortality. Local recurrence was observed in 42 patients (16%). Overall incidence of LR was not affected by aberrations of chromosomes 3 and/or 8q (P= 0.87). Although LR occurred earlier in patients with aberrations of chromosomes 3 and/or 8q compared with patients with a normal copy number of chromosomes 3 and 8q, the median time from primary diagnosis to LR was 1.6 years (interquartile range [IQR], 1.0-2.0) and 3.2 years (IQR, 2.1-5.0), respectively. Cox regression found LR to be an independent risk factor for disease-specific mortality (hazard ratio [HR], 2.7; 95% confidence interval [CI], 1.5-5.0) among all patients, but multistate models demonstrated a low risk of disease-specific death among patients with normal chromosomes 3 and 8q status, even after an LR. Copy number alterations of chromosome 3 and/or 8q in the primary UM did not increase the overall incidence of LR. However, the development of an LR enhanced the risk of disease-specific mortality among patients with copy number alterations of chromosomes 3 and/or 8q. Even after an LR, disease-specific mortality remained low among patients with normal copy numbers of chromosomes 3 and 8q. The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Age, sex and angiographic type-related phenotypic differences in inpatients with Takayasu arteritis: A 13-year retrospective study at a national referral center in China.

We aimed to investigate the demographic characteristics, vascular involvement, angiographic patterns, complications, and associations of these variables in a large sample of TAK patients at a national referral center in China. The medical records of TAK patients discharged from 2008 to 2020 were retrieved from the hospital discharge database using ICD-10 codes. Demographic data, vascular lesions, Numano classifications and complications were collected and analyzed. The median age at onset was 25 years in 852 TAK patients (670 female, 182 male). Compared with the females, the male patients were more likely to have type IV and were more likely to have iliac (24.7% vs. 10.0%) and renal artery (62.7% vs. 53.9%) involvement. They also had a higher prevalence of systemic hypertension (62.1% vs. 42.4%), renal dysfunction (12.6% vs. 7.8%) and aortic aneurysm (AA) (8.2% vs. 3.6%). The childhood-onset group was more likely to have involvement of the abdominal aorta (68.4% vs. 52.1%), renal artery (69.0% vs. 51.8%) and superior mesenteric artery (41.5% vs. 28.5%), and they were more likely to have type IV, V and hypertension than the adult-onset group. After adjusting for sex and age at onset, the patients with type II were associated with an increased risk of cardiac dysfunction (II vs. I: OR = 5.42; II vs. IV: OR = 2.63) and pulmonary hypertension (II vs. I: OR = 4.78; II vs. IV: OR = 3.95) compared with those with types I and IV. Valvular abnormalities (61.0%) were observed to be most prevalent in patients with type IIa. The patients with Type III were associated with a higher risk of aortic aneurysm (23.3%) than the patients with types IV (OR = 11.00) and V (OR = 5.98). The patients with types III and IV were more commonly complicated with systemic hypertension than the patients with types I, II and V. P < 0.05 in all of the above comparisons. Sex, adult/childhood presentation and Numano angiographic type were significantly associated with differences in phenotypic manifestations, especially cardiopulmonary abnormalities, systemic hypertension, renal dysfunction and aortic aneurysm.

Diagnostic accuracy of retinal optical coherence tomography in children with a newly diagnosed brain tumour.

To estimate the diagnostic accuracy of circumpapillary retinal nerve fibre layer (RNFL) thickness and macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness measurements to discriminate an abnormal visual function (i.e. abnormal age-based visual acuity and/or visual field defect) in children with a newly diagnosed brain tumour. This cross-sectional analysis of a prospective longitudinal nationwide cohort study was conducted at four hospitals in the Netherlands, including the national referral centre for paediatric oncology. Patients aged 0-18 years with a newly diagnosed brain tumour and reliable visual acuity and/or visual field examination and optical coherence tomography were included. Diagnostic accuracy was evaluated with sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). Of 115 patients included in the study (67 [58.3%] male; median age 10.6 years [range, 0.2-17.8 years]), reliable RNFL thickness and GCL-IPL thickness measurements were available in 92 patients (80.0%) and 84 patients (73.0%), respectively. The sensitivity for detecting an abnormal visual function was 74.5% for average RNFL thickness and 41.7% for average GCL-IPL thickness at a specificity of 44.5% and 82.9%, respectively. The PPV and NPV were 33.0% and 82.6% for the average RNFL thickness and 57.1% and 82.2% for the average GCL-IPL thickness. An abnormal visual function was discriminated correctly by using the average RNFL thickness in seven out of ten patients and by using the average GCL-IPL thickness in four out of ten patients. The relatively high NPVs signified that patients with normal average RNFL thickness and average GCL-IPL thickness measurements had a relative high certainty of a normal visual function.

Classification of the Os Calcis Subtalar Morphology in Symptomatic Flexible Pediatric Pes Planus Deformity Using Weightbearing CT and Distance Mapping.

The etiology of symptomatic pediatric pes planus (PP) deformity is unclear. Reduced os calcis subtalar joint (OCST) anterior facet morphology has been suggested to result in less support to the talar head and a higher propensity to develop PP deformity. Weightbearing computed tomography (WBCT) and distance mapping (DM) offer new opportunities to investigate PP deformity in general and the OCST specifically. The purpose of this study is to investigate the OCST morphology using DM and to classify PP subtalar subtypes with DM using Bruckner's A-D classification system. Forty feet in 25 patients in a national referral center were evaluated for symptomatic PP deformity that failed nonoperative treatment. A WBCT scan was performed as part of the preoperative evaluation. Visualization of the distance distribution between the articulating surfaces of the subtalar joint was based on a DM technique. Intra- and interobserver agreement of the subtalar morphology was assessed using Bruckner's classification system. The mean age was 10.7 ± 1.4 years. The following mean ± SD and median ± ranges were semiautomatically measured for this group: Meary angle -21 ± 8, calcaneal inclination 15 ± 4 degrees, talar coverage angle 39 (range 32.6-49) degrees, and hindfoot moment-arm 16 ± 5 mm. Classifying subtalar morphology using DM yielded an excellent intra- and interobserver agreement. The individual percentages of each individual subtype were calculated: type A 5%, type B 48%, type C 4%, and type D in 44%. This study demonstrated excellent intraobserver and interobserver agreement in classifying the OCST using DM. A higher prevalence of types B and D was observed compared to types A and C in this PP cohort. Level III, retrospective study.

Hemodialysis vascular access in prone position for critically ill patients with ARDS.

Acute respiratory distress syndrome (ARDS) is defined in critically ill patients with acute hypoxemia and positive-pressure ventilation in association with several clinical disorders including trauma, pneumonia, sepsis, and aspiration. The prone position has been used for many years and is now recommended for patients with severe or moderate-to-severe ARDS on invasive mechanical ventilation. Acute kidney injury (AKI) is a common complication in patients with ARDS, with up to a 35% incidence rate. Initiation of Kidney Replacement Therapy (KRT) requires wise clinical judgment and collaboration between nephrologists and intensivists. A properly functioning vascular access is critical for an optimized KRT. Our institute is a national referral center for respiratory diseases. We describe 11 cases of dialysis catheter placement for KRT in critically ill patients with ARDS on mechanical ventilation in prone position. The catheter was placed in the first puncture attempt in nine cases, Blood flows (Qb) achieved were 283.4 ± 20.4 ml/min during the session, in six cases the radiologic tip location was achieved in the peri cavoatrial junction; in four cases was achieved in mid to- deep right atrium. The dialysis quality standards were based on KTV and in URR; in nine cases (81.81%) KTV was in 1.3 and in all cases (100%) URR was >65%, lumen dysfunction was reported only in two cases (18.1%), but these cases did respond to mobilization maneuvers. The procedure time of placement was 29.8 min, no arterial punctures or complications were reported. We demonstrate that in our study hemodialysis non-tunneled catheter placement in the prone position is safe and effective. We believe this practice could be frequently used in the near future and represent an opportunity window for the training of interventional nephrologists and related areas.

Epidemiological and Clinical Characteristics of Imported Schistosomiasis in a Tertiary Teaching Spanish Hospital, 2015- 2022

Background: Schistosomiasis is a parasitic disease greatly present in tropical and subtropical areas, and frequently diagnosed in travelers and migrants. Methods: This report summarizes epidemiological and clinical data from retrospective cases of imported schistosomiasis diagnosed from January 2015 to May 2022 in a national referral center for tropical diseases in Madrid, Spain. Results: From a total of 9,929 patients attended in our clinic in the study period there were 477 schistosomiasis diagnosis (4,4%). Time elapsed from travel to diagnosis was 120 days (IQR 26-680). Most cases (28.1%) were diagnosed in immigrants from endemic areas, followed by 24.5% of travelers. In up to 34.5% of cases the diagnosis was a result of screening in asymptomatic subjects, 17% presented fever and 15% diarrhea. Almost all cases were diagnosed by serology and eggs in urine or feces were identified in only 11 patients (2.2%). Conclusions: Imported schistosomiasis is a chronic and asymptomatic disease that can be diagnosed in most patients by serology. It is important to advice travelers to avoid freshwater baths in endemic areas and get screened if they have been exposed to the parasite.

Increasing demand for ophthalmic pathology: time trends in a laboratory with nationwide coverage

PurposeTo report the time trends in basic patient characteristics and the number of specimens received at a national referral center for ophthalmic pathology.MethodsData on patient sex, age at surgical resection and geographical location of the referring unit were obtained for all specimens received at the St. Erik Ophthalmic Pathology laboratory, Stockholm, Sweden, between January 1st, 1959, and December 31st, 2021.ResultsA total of 33 057 specimens had been received, of which 14 560 (44%) came from men and 18 477 (56%) from women (for 20 patients, the sex was not specified). The average annual percent change (AAPC) in the number specimens received was + 10.5%, whereas the Swedish population increased with 0.5% per year. Patients became older throughout the period, with an average yearly increase of patient age at surgery of 0.3 years (AAPC 0.2%). Overall, women were three years older than men at surgery (59.4 versus 56.4 years, P < 0.0001) The number of specimens increased with patient age from the first to the 8th decade, after which it decreased to zero in the 11th decade. The largest portion of patients had undergone their surgery in one of the hospitals or clinics in the capital region, with four of the five largest sources corresponding to the most populous counties in the country.ConclusionsDuring six decades, the growth in number of specimens sent to our national referral center for ophthalmic pathology has greatly outpaced the growth of the population, indicating an increasing demand for subspecialized services. Throughout the period, patients have become older, and a higher number of specimens have been submitted from female patients.

Impact of patient ancestry on heterogeneity of Sjögren’s disease

ObjectivesWe aimed to compare disease characteristics between primary Sjögren’s syndrome (pSS) patients of African ancestry (AA) and Caucasian ancestry.MethodsWe conducted a retrospective, case–control study in a French national and European...