BACKGROUND: The French healthcare system has been affected by the COVID-19 pandemic in 2020, including cancer care.
METHODS: In order to evaluate the impact of this pandemic on cancer incidence, the Isere Departmental Cancer Registry compared the actual 2020 incidence of melanoma, breast, colorectal, prostate and lung cancers with the expected 2020 incidence based on data collected by the Registry between 2015 and 2019, taking into account periods of lockdown and reopening. When available, cancer stages and/or prognostic scores were recorded.
RESULTS: During the period of initial confinement, a 54%, 50% and 36,8% drop in incidence was observed for breast, prostate and colorectal cancer respectively. Although their annual incidence remained stable, a worsening trend emerged as a decline in the number of low stages/scores at diagnosis in favour of higher stages/scores towards the end of 2020. In contrast, a significant 17,8% drop was observed in annual incidence of melanoma, particularly for Breslow scores < 1 (-27,4%). However, this trend was noticeable before the lockdown, as well as the 14% reduction in the incidence of lung cancer in women, but not in men.
CONCLUSIONS: The incidence of certain cancers was caught up over the year but the COVID-19 pandemic seems to be associated with a change in their severity at diagnosis throughout 2020. The downward trends in female lung cancer and melanoma incidence point to complex underlying phenomena. Further analysis is still needed to assess the global impact of the COVID-19 pandemic on cancer incidence.

UNASSIGNED: Scabies is the second most common cause of disability among skin diseases in the Philippines as of 2019. There is no large nationwide study describing the epidemiologic profile of scabies in the country.
UNASSIGNED: This study aimed to describe the demographic, seasonal, and geographic profile of scabies in the Philippines.
UNASSIGNED: We compared secondary data of two local patient registries (Philippine Dermatological Society, PDS, 2010 to 2021; and Philippine Pediatric Society, PPS, 2009 to 2021) for reported cases of scabies in the Philippines. We reported the frequency and percentage distribution according to age, sex, month, year, and type of diagnosis, and region.
UNASSIGNED: The median annual frequency of scabies cases (mostly outpatient) for PDS (from year 2010) was 4087 (range ([QR], 342-6422 [3271.5]), while it was 183 (range [IQR], 64-234 [96.5]) (all inpatient) for PPS (from year 2009). There was a reduction to one-third (PDS) and one-fourth (PPS) of pre-pandemic numbers during the pandemic years (2020-2021). The peak months for scabies cases were the cooler months: January (median, 12.1% of annual cases; range [IQR], 2.6%-31.4% [3.6%]) to February (median, 10.0% of annual cases; range [IQR], 1.5%-27.8% [2.5%]) based on PDS data, and November (median, 10.0% of annual cases; range [IQR], 0.0%-24.3% [7.0%]) to January (median, 9.0% of annual cases; range [IQR], 0.0%-24.3% [6.6%]) for PPS data. Overall, for PDS, age 1-4 years is the most affected age group (median, PDS, 17.5% of annual cases; range [IQR], 11.9%-25.4% [8.1%]), while it was the less than 1-year-olds (median annual cases, 48.9%; range [IQR], 29.1%-67.3% [13.20%]) among PPS pediatric population aged 0 to 18 years. Males (median, 53.9% of annual cases; range [IQR], 45.0%-67.2% [8.8%]) were more affected than females in PPS. While for PDS during earlier years (prior to 2015), males (median, 51.6% of annual cases from 2010 to 2014; range [IQR], 47.4%-52.9% [0.2%]) were more affected than females. However, males became less affected than females with median, 44.7% of annual cases from 2015 onwards (range [IQR], 43.4%-46.5% [1.2%]). NCR was the region with the highest frequency of cases in PPS (median, 52.6% of annual cases; range [IQR], 22.7%-75.0% [20.4%]). The 2nd most affected regions were Central/Eastern Visayas (34.2%, 2009-2013; range [IQR], 17.9%-54.1% [5.3%]), Bicol region (12%; 2014 to 2018; range [IQR], 17.9%-54.1% [7.4%]), Central Luzon (18%; 2019), Central/Eastern Visayas (29%, 2020), and Northern/Central Mindanao (17%, 2021).
UNASSIGNED: Scabies was commonly seen in the younger age group, slightly more in females in the PDS, while slightly more among males in the PPS, in the cooler months of the year, and in the urbanized NCR.

A validation of the GeRi-Score on 120-day mortality, the impact of a pre-operative visit by a geriatrician, and timing of surgery on the outcome was conducted. The score has predictive value for 120-day mortality. No advantage was found for surgery within 24 h or a preoperative geriatric visit.
OBJECTIVE: Numerous tools predict mortality among patients with hip fractures, but they include many variables, require time-consuming assessment, and are difficult to calculate. The GeRi-Score provides a quick method of pre-operative assessment. The aim of this study is to validate the score in the 120-day follow-up and determine the impact of a pre-operative visit by a geriatrician and timing of surgery on the patient outcome.
METHODS: A retrospective analysis of the AltersTraumaRegister DGU® from 2017 to 2021 was conducted, including all proximal femur fractures. The patients were divided into low-, moderate-, and high-risk groups based on the GeRi-Score. Mortality was analyzed using logistic regression. To determine the influence of the time to surgery and the preoperative visit by a geriatrician, matching was performed using the exact GeRi-Score, preoperative walking ability, type of fracture, and the time to surgery.
RESULTS: The study included 38,570 patients, divided into 12,673 low-risk, 18,338 moderate-risk, and 7,559 high-risk patients. The moderate-risk group had three times the mortality risk of the low-risk group (OR 3.19 (95% CI 2.68-3.79; p<0.001)), while the high-risk group had almost eight times the mortality risk than the low-risk group (OR 7.82 (95% CI 6.51-9.93; p<0.001)). No advantage was found for surgery within the first 24 h across all groups. There was a correlation of a preoperative geriatric visit and mortality showing an increase in the moderate and high-risk group on in-house mortality.
CONCLUSIONS: The GeRi-Score has predictive value for 120-day mortality. No advantage was found for surgery within 24 h. The analysis did not demonstrate a benefit of the preoperative geriatric visit, but more data are needed.

OBJECTIVE: Although minimally invasive hysterectomy offers advantages, abdominal hysterectomy remains the predominant surgical method. Creating a standardized dataset and establishing a hysterectomy registry system present opportunities for early interventions in reducing volume and selecting benign hysterectomy methods. This research aims to develop a dataset for designing benign hysterectomy registration system.
METHODS: Between April and September 2020, a qualitative study was carried out to create a data set for enrolling patients who were candidate for hysterectomy. At this stage, the research team conducted an information needs assessment, relevant data element identification, registry software development, and field testing; Subsequently, a web-based application was designed. In June 2023the registry software was evaluated using data extracted from medical records of patients admitted at Al-Zahra Hospital in Tabriz, Iran.
RESULTS: During two months, 40 patients with benign hysterectomy were successfully registered. The final dataset for the hysterectomy patient registry comprise 11 main groups, 27 subclasses, and a total of 91 Data elements. Mandatory data and essential reports were defined. Furthermore, a web-based registry system designed and evaluated based on data set and various scenarios.
CONCLUSIONS: Creating a hysterectomy registration system is the initial stride toward identifying and registering hysterectomy candidate patients. this system capture information about the procedure techniques, and associated complications. In Iran, this registry can serve as a valuable resource for assessing the quality of care delivered and the distribution of clinical measures.

The CARMEN-France registry is a prospective, multicenter registry in France including adult patients with a new diagnosis of immune thrombocytopenia or of autoimmune immune hemolytic anemia (2402 patients included in December 31, 2023). The recording of clinical, biological and treatment data allows detailed epidemiological and pharmacoepidemiological real-world studies. This review summarizes the CARMEN-France registry protocol, gives examples of studies conducted in the registry, and indicates future directions such as inclusion of patient reported outcomes, linkage with the French national health insurance database and linkage with other registries in Europe.

BACKGROUND: In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH). However, the program\'s effectiveness has not been systematically assessed.
OBJECTIVE: This study aimed to estimate the prevalence of FH among parents of children that had elevated TC levels identified during screening.
METHODS: This prospective, non-interventional, observational study enrolled parents of 11-year-old children who underwent TC screening in 23 selected pediatric outpatient clinics between 2017 and 2018. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and targeted next-generation sequencing. The primary objective was to estimate the proportion of children with a TC level of >188 mg/dL (>4.85 mmol/L) who had a parent with a confirmed diagnosis of FH.
RESULTS: A total of 112 parents of 56 children with an elevated TC level were enrolled. Five children (8.9%) had a parent in whom FH was genetically confirmed. Without genetic analysis, all five parents would only be diagnosed with \"possible FH\" by DLCN criteria. Of parents, 83.9% (n = 94/112) had an LDL-C level of >116 mg/dL (>3 mmol/L), but only 5.3% (n = 5/94) received lipid-lowering therapy. Among the five parents with genetically confirmed FH, all had an LDL-C level >116 mg/dL (>3 mmol/L), with a mean (±SD) of 191 (±24) mg/dL (4.94 [±0.61] mmol/L). Only two of these parents received lipid-lowering therapy.
CONCLUSIONS: The present study demonstrates the significance of mandatory universal pediatric TC screening in identifying families with FH and other at-risk families in need of lipid-lowering therapy.

OBJECTIVE: To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.
METHODS: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively. Motor function outcomes were assessed post-treatment by SMA type. Safety profile was evaluated among patients starting nusinersen treatment post-enrollment. Descriptive analyses were used to report baseline characteristics, effectiveness, and safety results.
RESULTS: As of March 2nd, 2023, 385 patients were included. Most patients demonstrated improvements or stability in motor function across all SMA types. Type II patients demonstrated mean changes [95% confidence interval (CI)] of 4.4 (3.4-5.4) and 4.1 (2.8-5.4) in Hammersmith Functional Motor Scale-Expanded (HFMSE), and 2.4 (1.7-3.1) and 2.3 (1.2-3.4) in Revised Upper Limb Module (RULM) scores at months 6 and 10. Type III patients exhibited mean changes (95% CI) of 3.9 (2.5-5.3) and 4.3 (2.6-6.0) in HFMSE, and 2.1 (1.2-3.0) and 1.5 (0.0-3.0) in RULM scores at months 6 and 10. Of the 132 patients, 62.9% experienced adverse events (AEs). Two patients experienced mild AEs (aseptic meningitis and myalgia) considered to be related to nusinersen by the investigator, with no sequelae.
CONCLUSIONS: These data underscore the significance of nusinersen in Chinese pediatric patients with SMA regarding motor function improvement or stability, and support recommendations on nusinersen treatment by Chinese SMA guidelines and continuous coverage of nusinersen by basic medical insurance.

The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation. Patients were identified from the electronic medical records of the Saudi NGHA hospitals using the International Classification of Disease (ICD-10). A trained coordinator verified the diagnosis and entered patients\' details into the registry and a random sample was validated by experienced endocrinologists. The data were analyzed according to patients\' demography, diabetes subtypes, duration, control, and complications. The challenges faced by the team were identified and addressed. At the time of manuscript submission, 2,344 individuals were enrolled. Their mean age at diagnosis was 9.08 (±4.27) years and 1,136 (48.46%) were females. Of these, 91.3% have type 1 (T1D), and 6.4% have type 2 diabetes (T2D). The mean HbA1c was 10.45% (±2.36) and duration of diabetes was 5.31 (±3.05) years. The main challenges included the COVID-19 pandemic, data validation, and centers\' participation. However, within 12 months of initiation enrolled subjects matched the expected number. Despite the challenges, the first step of SPYDR was achieved. The initial data confirmed that T1D is the most common form of childhood diabetes, and the frequency of T2D is comparable to regional and international data. SPYDR provides the infrastructure for data sharing and collaborative research with the enrollment of patients from other Saudi healthcare institutes.

Genetic testing is the gold standard for diagnosing different epidermolysis bullosa (EB) subtypes; however, testing rates are low. We conducted a pilot study to test feasibility of a novel, home-based registry that involved patients with EB submitting self-reported clinical symptoms using secure, online surveys (REDCap) and submitting buccal swabs for exome sequencing of EB-related genes (GeneDx). In total, 50 EB participants were enrolled, with an average age of 17 years and an average distance of 198 miles from EB specialty centers. All buccal swabs (N = 24) provided sufficient DNA for sequencing without causing mucosal trauma and 80% of participants were found to have pathogenic variants in COL7A1, the gene mutated in DEB. Participants with recessive dystrophic EB (RDEB) reported a higher prevalence of esophageal dilations (65.7% vs. 0%, p = .009) and mitten deformities of the feet (57.1% vs. 0%, p = .047) compared to non-RDEB participants.

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