Telephone Inquiries Research Articles

Paediatric opioid poisoning in the UK: a retrospective analysis of clinical enquiries to the National Poisons Information Service

ObjectiveTo evaluate a decade of reported paediatric opioid poisoning cases in the UK.MethodsThe National Poisons Information Service (NPIS) telephone enquiries database (UK Poisons Information Database) was searched for calls regarding...

The Past, Present, and Future of Cross-Border Cooperation between Municipalities in the South Bohemian Region: A Case Study

The aim of this study is to provide a comprehensive view of matters of cross-border cooperation, with the main emphasis on the typology and development of structures supporting cross-border cooperation in a selected region of the Czech Republic (South Bohemian Region). The study focuses on the analysis of changes in the methods and ways of cooperation of municipalities in the programming periods 2007–2013 and 2014–2020 (Euroregions, cross-border impulse centers, European territorial cooperation groups, partner and friendly cities, etc.). The research not only analyzes the actual development of cooperation between municipalities in the region studied, but also identifies the prerequisites of and barriers to cross-border cooperation. The data obtained show a significant decrease in the interest of municipalities in cross-border cooperation within the conditions of the Czech Republic in recent years. The current situation with regard to the existence and development of cross-border cooperation in 2024 is not very satisfactory, although it is paradoxically an area strongly supported by the EU Cohesion Policy. This study employs a mixed-methods approach, combining both qualitative and quantitative research methods to provide a comprehensive analysis of cross-border cooperation in the South Bohemian Region. A thorough review of existing literature on cross-border cooperation and related policies was conducted to establish a theoretical framework. The practical part of the study is based on field research carried out by the author in 2007–2013 and 2014–2020. This research examined the level of cooperation between the 623 municipalities in the South Bohemian Region (in 2016, there were 624 municipalities in the region). In the case of cross-border impulse centers, the input data were represented by e-mail and telephone inquiries to representatives of individual municipalities and the websites of Euroregions. To conduct a comprehensive study on cross-border cooperation between municipalities in the South Bohemian Region, logical and scientific methods were used. Universal methods of logic ensured the correctness and orderliness of the thought process, with abstraction identifying key elements. Synthesis was used to divide the study into parts, analyze them in detail, and integrate them into a comprehensive analysis. Scientific methods included analysis to examine the current status and frameworks of cross-border cooperation and comparison to identify similarities or differences between the Czech Republic and neighboring countries.

P426 Patterns of telephone inquiries to the cystic fibrosis nursing team at a large tertiary hospital in North West United Kingdom

P426 Patterns of telephone inquiries to the cystic fibrosis nursing team at a large tertiary hospital in North West United Kingdom

Insurance Coverage for Gender-Affirming Voice and Communication Services: An In-Depth Analysis in a Midwestern U.S. State

Purpose: The aim of this study was to explore the gap between the need for gender-affirming voice and communication services (GAVCS) and insurance coverage within one state. Method: An electronic, cross-sectional survey of transgender/gender-diverse (TGD) adults assessed the incidence of insurance and cost barriers to GAVCS. Then, policies from 22 major insurers were reviewed using a web-based search and telephone inquiries. Finally, a tool was developed for clinicians to share available coverage for GAVCS by insurer. Results: Over half (53%) of 115 respondents reported vocal incongruence, but only 19.1% had pursued GAVCS. Of those who had not, 57% reported cost and/or insurance coverage were barriers (most of whom were commercially insured). Less than half of major Ohio insurance plans mentioned GAVCS coverage, and of those who did, less than half would consider covering it on a case-by-case basis. Creation of a tool that explained coverage across insurance companies was helpful, but challenging and labor-intensive. Conclusions: TGD individuals often experience a mismatch between their gender identity and societal perceptions of their voice, which can worsen dysphoria and compromise safety. GAVCS align voice with gender identity but are inconsistently covered by health insurance and can be costly, particularly for individuals who face socioeconomic marginalization. Inconsistent transparency in communicating coverage criteria further exacerbates access to GAVCS. Poor insurance coverage of GAVCS is an important barrier to accessing this evidence-based care, and more transparency and consistency in coverage is critical.

A National Survey of Pediatric Post-Acute Care Facilities.

To identify and geolocate pediatric post-acute care (PAC) facilities in the United States. Cross-sectional survey using both online resources and telephone inquiry. All 50 U.S. states surveyed from June 2022 to May 2023. Care sites identified via state regulatory agencies and the Centers for Medicare & Medicaid Services. None. Number, size, and type of facility, scope of practice, and type of care provided. One thousand three hundred fifty-five facilities were surveyed; of these, 18.6% (252/1355) were pediatric-specific units or adult facilities accepting some pediatric patients. There were 109 pediatric-specific facilities identified within 39 U.S. states. Of these, 38 were freestanding with all accepting children with tracheostomies, 97.4% (37/38) accepting those requiring mechanical ventilation via tracheostomy, and 81.6% (31/38) accepting those requiring parenteral nutrition. The remaining 71 facilities were adult facilities with embedded pediatric units or children's hospitals with 88.7% (63/71), 54.9% (39/71), and 54.9% (39/71), accepting tracheostomies, mechanical ventilation via tracheostomy, and parenteral nutrition, respectively. Eleven states lacked any pediatric-specific PAC units or facilities. The distribution of pediatric PAC is sparse and uneven across the United States. We present an interactive map and database describing these facilities. These data offer a starting point for exploring the consequences of pediatric PAC supply.

Arrangements for Telephone Consultation on Radiation Health Effects in a Nuclear Emergency in Japan: Lessons Learned from the Nuclear Accident in Fukushima, Japan, 2011

The Japan Atomic Energy Agency (JAEA) established a telephone consultation system at the request of the Ministry of Education, Culture, Sports, Science and Technology in response to residents’ concerns about the radiation health effects following the nuclear accidents at the Fukushima Daiichi Nuclear Power Station of the Tokyo Electric Power Company (TEPCO) in March 2011. Eight toll-free telephone lines were established and employees with knowledge of radiation health effects were assigned for consultation. The JAEA expert response group for telephone inquiries comprised a telephone response team, a question-and-answer team, and a manager. Approximately 35,000 consultations were conducted from March 17, 2011 to September 18, 2012. Japan’s Basic Disaster Prevention Plan was revised following the accident, where one of the JAEA’s roles for nuclear emergency response was to provide telephone consultation on radiation health effects. The JAEA’s system for telephone consultation was improved following this experience. The description of telephone hotlines in the International Atomic Energy Agency’s guide, GSG-14, published in 2020, was discussed for further improvement in the JAEA’s telephone consultation system.

Clinical features and treatment outcomes of Castleman disease in children: a retrospective cohort in China

Castleman disease (CD) is a rare lymphoproliferative disorder of undetermined etiology. Unicentric CD (UCD) and multicentric CD (MCD) are two phenotypes of CD diagnosed by the histopathology of lymph nodes. We attempted to describe a pediatric CD cohort to optimize the management of this disease. We reviewed the medical records of pediatric patients diagnosed with CD between April, 2004, and October, 2022, at the Children’s Hospital of Fudan University. Prognosis information was collected in January, 2023, by telephone inquiry. Twenty-two patients with UCD and 2 patients with MCD were identified, all with hyaline vascular (HV) type. The median ages at diagnosis were 10.75 years (IQR 8, 12.81) for UCD and 14.42 years (IQR 13.42, 15.42) for MCD. The most common lesion location of UCD was the neck (9/22, 40.91%) and abdomen (9/22, 40.91%). Systematic symptoms occurred on 10/22 (45.45%) patients with UCD and 1/2 (50%) patients with MCD, and abnormal laboratory indexes were detected in both. Resection and biopsy were performed on all patients. One out of two patients with MCD also received rituximab for upfront therapy. After a median of 4 years (IQR 1.5, 6) of follow-up time, the overall survival was 100% and the complete remission rate in UCD was 63%. There was no relapse or progression.Conclusions: Our series demonstrated that HV-UCD was the most common type in children. Resection and biopsy were used for both deterministic diagnoses and treatments. Despite the high possibility to develop systematic inflammation, children with CD showed promising outcomes.What is Known:• Castleman disease is a rare lymphoproliferative disorder with limited cohort studies, especially in pediatrics.• The ubiquity of delayed confirmations and misdiagnoses points to a lack of knowledge about etiology and characteristics, which is a prerequisite for novel therapeutics.What is New:• We retrospectively reviewed and analyzed the clinical and pathological symptoms, laboratory and imaging features, and treatment outcomes of a Chinese pediatric cohort with Castleman disease.• Our work may improve the recognition and optimize the management of this rare disease in children.

Effect of improvement measures in reducing interruptions in a Japanese hospital pharmacy using a synthetic approach based on resilience engineering and systems thinking

BackgroundWorkflow interruptions in pharmacies contribute to dispensing errors, a high-priority issue in patient safety, but have rarely been studied from a systemic perspective partly because of the limitations of the conventional reductionistic approach. This study aims to identify a mechanism for the occurrence of interruptions in a hospital pharmacy and find interventional points using a synthetic approach based on resilience engineering and systems thinking, and assess implemented measures for reducing them.MethodsAt a Japanese university hospital, we gathered information about performance adjustments of pharmacists in the inpatient medication dispensing unit for oral and topical medicines (IMDU-OT) and nurses in the inpatient wards (IPWs) in the medication dispensing and delivery process. Data about the workload and workforce of pharmacists were collected from hospital information systems. Telephone inquiries and counter services in the IMDU-OT, the primary sources of interruptions to pharmacists' work, were documented. The feedback structure between the IMDU-OT and the IPWs was analyzed using a causal loop diagram to identify interventional points. The numbers of telephone calls and counter services were measured cross-sectionally before (February 2017) and four months after implementing measures (July 2020).ResultsThis study found that interruptions are a systemic problem emerging from the adaptive behavior of pharmacists and nurses to their work constraints, such as short staffing of pharmacists, which limited the frequency of medication deliveries to IPWs, and lack of information about the medication dispensing status for nurses. Measures for mitigating cross-system performance adjustments—a medication dispensing tracking system for nurses, request-based extra medication delivery, and pass boxes for earlier pick-up of medicines—were introduced. Following their implementation, the daily median number of telephone calls and counter services was significantly reduced (43 to 18 and 55 to 15, respectively), resulting in a 60% reduction in the total number of interruptions.ConclusionThis study found interruptions in the hospital pharmacy as a systemic problem that can be reduced by mitigating difficulties being compensated for by clinicians' cross-system performance adjustments. Our findings suggest that a synthetic approach can be effective for solving complex problems and have implications for methodological guidance for Safety-II in practice.

Temporal trends of morbidities, and risk and protective factors for noncommunicable diseases in elderly residents in Brazilian capitals.

To analyze the temporal trends of prevalence of morbidities, risk and protection factors for noncommunicable diseases in elderly residents in Brazilian capitals between 2006 and 2021. A time series study with data from the Surveillance System of Risk and Protective Factors for Chronic Diseases by Telephone Inquiry. The variables analyzed were: high blood pressure, diabetes, smoking, overweight, obesity, consumption of alcoholic beverages, soft drinks, fruits and vegetables, and the practice of physical activity. Prais-Winsten regression and Interrupted Time Series from 2006 to 2014 and 2015 to 2021 were used. From 2006 to 2021, for the total elderly population, there was an increase in diabetes (19.2 to 28.4%), alcohol consumption (2.5 to 3.2%), overweight (52.4 to 60.7%) and obesity (16.8 to 21.8%), and a reduction in the prevalence of smokers (9.4 to 7.4%) and in soft drink consumption (17 to 8.7%). By the interrupted series, between 2015 and 2021, there was stability in the prevalence of diabetes, female smokers, overweight among men, obesity in the total and male population, and soft drink consumption. Over the years, there have been changes and worsening in the indicators analyzed, such as an increase in diabetes, alcohol consumption, overweight, and obesity, which reinforces the importance of continuous monitoring and sustainability programs to promote the health, especially in the context of economic crisis, austerity, and COVID-19 pandemic.

Incidence, risk factors and prognosis of acute kidney injury in patients treated with immune checkpoint inhibitors: a retrospective study

Immune checkpoint inhibitors (ICIs) change the prognosis of many cancer patients. With the increasing use of ICIs, immune-related adverse events are occurring, including acute kidney injury (AKI). This study aimed to assess the incidence of AKI during ICI treatment and its risk factors and impact on mortality. Patients treated with ICIs at the First Medical Center of the Chinese PLA General Hospital from January 1, 2014, to December 30, 2019, were consecutively enrolled, and risk factors affecting AKI development in patients treated with ICIs were analyzed using univariate and multivariate logistic regression. Medical record surveys and telephone inquiry were used for follow-up, and Kaplan–Meier survival analysis and Cox regression were used to analyze independent risk factors for death. Among 1615 patients, 114 (7.1%) had AKI. Multivariate logistic regression analysis showed that anemia, Alb < 30 g/L, antibiotic use, diuretic use, NSAID use and proton pump inhibitor use were independent risk factors for AKI development in patients treated with ICIs. Stage 2 or 3 AKI was an independent risk factor for nonrecovery of renal function after AKI onset. Multivariate Cox regression analysis showed that anemia, Alb < 30 g/L, AKI occurrence, and diuretic use were independent risk factors for death in patients treated with ICIs, while high baseline BMI, other tumor types, ACEI/ARB use, and chemotherapy use were protective factors for patient death. AKI occurs in 7.1% of patients treated with ICIs. Anemia, Alb < 30 g/L, and combined medication use are independent risk factors for AKI in patients treated with ICIs. Anemia, Alb < 30 g/L, AKI occurrence, and diuretic use were independent risk factors for death in patients treated with ICIs.

Clinical Efficacy and Survival Analysis of Adult Patients with Acute Myeloid Leukemia after Microtransplantation

To investigate the clinical efficacy and survival factors of microtransplantation (MST) in adult patients with acute myeloid leukemia (AML). For a retrospective analysis of 27 adult patients with AML receiving MST from July 2014 to October 2021, the median age was 59(29-77) years old, 13 cases were ≥60 years old, 14 case were <60 years old, 13 cases were male and 14 cases were female. Classification by FAB: AML-M2 6 cases, AML-M4 6 cases, AML-M5 2 cases, AML-M6 2 cases, AML（Undivided type） 9 cases, AML myeloid sarcoma 2 cases (primary AML 21 cases, AML secondary to MDS 6 cases). Cytogenetic analysis showed 25 patients with a normal karyotype, 2 patients with an abnormal karyotype, and 20 patients with an abnormal molecular biology. Induction chemotherapy regimens mainly include: IA, DA, MA or HA regimen, including CAG or CIG in combination with decitabine, and single-agent decitabine. 17 patients achieved complete remission (CR) after 1 course of induction chemotherapy and 4 patients achieved CR after 2 courses of induction chemotherapy. 3 patients received CR by four courses of decitabine, 2 patients received no remission, and 1 patient underwent no induction chemotherapy and were treated direct MST. There were 16 patients with pretransplant CR and 11 patients were not in remission before transplantation. Follow-up mainly used consult patient's medical records and telephone inquiry to observe the adverse effects and efficacy of MST treatment. Survival analysis was performed by Kaplan-Meier method, with the main observation indicators overall survival(OS) and leukemia-free survival(LFS), and performed with the Log-rank test. Multivariate analysis was performed by the Cox regression model. A total of 79 MST were performed in 27 AML patients with good overall safety and no special serious adverse effects. The median time of leukocyte recovery was 13(4-28) days, and the median time of platelet recovery was 13(4-30) days. There were 50 cases of infection, 5 cases of abnormal liver function and 3 cases of abnormal cardiac function. Except for abnormal cardiac function, all other complications did not affect the treatment and were cure. Acute or chronic GVHD, renal insufficiency, abnormal coagulation function, and severe bleeding were not observed during treatment or during follow-up. As of the follow-up date, the median follow-up time of the 27 patients was 79(14-171) months, the median OS time was 62(1-171) months, and the median LFS time was 15(0-171) months. The 2-year OS rate was 65.7%（17/27）, and the 2-year LFS rate was 47.4%（12/27） . The complete response rate of 27 patients treated with MST was 48.1% (13/27). 8 patients relapsed during MST treatment, including 7 patients after the completion of the first MST course and 1 patient after the completion of the second MST course. 2 patients relapsed after the end of the course of MST. 13 patients died, including 10 patients because of disease progression, two patients from severe infection, and one patient from cardiac damage. MST has the advantages of small toxic side effects, complete compatibility of HLA matching is not required, effective avoidance of GVHD and rapid hematopoietic recovery, which can improve OS and LFS in elderly AML and young AML patients, and is one of the treatment options for patients without HLA matching.

P13.17: Clinical Features and Outcomes Following SARS-cov-2 Infection in Pediatric Liver Transplant Patients

Introduction: Several studies suggest that chronic immunosuppressive treatment in pediatric liver transplant recipients may predispose to increased risk of acquiring SARS-CoV-19 infection, however, the severity of the infection and mortality rates remains unclear due to the lack of sufficient clinical data. Herein, we assessed the severity and clinical features following SARS-CoV-19 infection in our pediatric liver transplant recipient’s cohort. Methods: We assessed total of 118 pediatric liver transplant recipients between 1-18 years of age who had been followed between 01 March 2019 to December 2021. Demographic data, clinical and laboratory features were obtained from electronic medical record as well as the state health record system. The information regarding the severity of the symptoms, duration of hospitalization, and outcomes of the infection were obtained by telephone inquiries. Patients with COVID-19 infection prior liver transplantation, unknown hospitalization status or unconfirmed SARS-CoV infection were excluded. The demographic, clinical and laboratory features of the patients were analysed descriptively. Results: A total of 16 out of 118 (13.5%) pediatric liver transplant recipients were diagnosed with COVID-19 infection. Eleven (68.8%) patients were male with a median age of 14.8 (interquartile range, 8-16) years. The main presenting symptoms were as follows; fever in 8 (50%), cough in 6 (37.5%), sore throat in 4 (25%), runny nose in 5 (31.3%), myalgia in 3 (18.8%), and abdominal pain in 2 (12.5%) patients. None of the patients exhibited respiratory failure, arthralgia, smell and taste loss, or diarrhea. Out of 16 COVID-19 patients, 6 (37.5%) had complete blood count, biochemistry tests and coagulation profile. Four of them exhibited leukopenia and mildly elevated C-reactive protein. One patient required computed tomography of thorax due to respiratory distress which revealed the ground-glass opacity and minimal pleural effusion. Only 3 out of 16 patients required hospitalization with a mean 2.67-days length of stay. Two out of 16 patients received favipiravir and two patients required antibiotics treatment due to suspected pneumonia. No SARS-CoV-19 infection associated intensive care admission or death were observed in our study. Nine out of 16 patients with SARS-CoV-19 were unvaccinated due to following reasons: 8 patients were younger than 12 years as vaccination is not recommended in this age group by the current guidelines of the Turkish ministry of health, and 1 patient was recently tested positive for COVID-19 infection. Rest seven out of 16 patients had two doses of COVID-19 vaccination. Conclusion: In this study, pediatric LT patients with SARS-CoV-19 infection showed a wide range of clinical presentations while the outcomes of the infection were generally mild.

Faktori koji utječu na oporavak djece nakon tonzilektomije

Introduction: Tonsil operations are among the most usual operations performed on children. The aim of this study is to establish how age, sex, body height, and weight affect the recovery of children after tonsillectomy.Methods: This study involved 66 children, girls and boys equally, between the ages of 4-9. The survey obtained seven questions about the factors that we have evaluated as significant for the postoperative recovery of children (fluid intake, food intake, sleep, daily activities, mood, communication, hospitalization) and was conducted by a nurse on the third, the seventh and the fifteenth postoperative day by a telephone inquiry. Results: Statistically significant difference between boys and girls was found during the seventh day (daily activities) and the fifteenth day (sleep). Pearson test of correlation established a statistically significant negative correlation in the group of all children with age/height/weight during the third, seventh, and fifteenth day for the consummation of liquid and food, sleep, daily activities, mood, and communication. Statistical significance was not established in relation to the hospitalization.Conclusion: We can conclude that, in our sample physically smaller thus, younger children recover better than the elder ones, which is statistically confirmed by a significant negative correlation between age, weight, height, and the observed parameters during the recovery. To a further extent, we concluded that girls recover slightly better than boys, but for most parameters the difference was not statistically significant.

Short-Term Outcome Assessment of Acute Ischemic Stroke After Intravenous Fibrinolytic Therapy: A Cross-sectional Study

Background: The disease burden of acute ischemic stroke (AIS) is an important health issue in today’s patient care. Urgent intravenous thrombolytic (UIT) therapy is one of the most popular treatments in these cases. Objectives: This study aimed to evaluate the 1-month outcome of patients with AIS who received urgent intravenous fibrinolytic therapy. Methods: In a prospective cross-sectional study, we evaluated the 1-month outcome of cases with a confirmed diagnosis of AIS who had received UIT therapy at the emergency department. Demographic data, mortality and morbidity, hospital length of stay, admission functional disability by Modified Rankin Scale (MRS), National Institutes of Health Stroke Scale (NIHSS), and final disposition of patients were all evaluated and recorded via their medical records or structured telephone inquiries. We compared all variables between the 2 groups (i.e., survived and expired groups). Results: Among 490 cases we assessed, age had a mean ± SD of 69.41 ± 12.25 years, and most cases were males (74.3%). The 1-month mortality rate in our sample was 4.08% (20 cases). The mean ± SD of hospital length of stay was 6.84 ± 7.32 days, with no significant difference between the 2 groups (P = 0.869). Demographic data showed no significant differences between the 2 groups. NIHSS and MRS scores were significantly higher in the expired group than in the survived group (P = 0.005 and P = 0.001, respectively). Conclusions: NIHSS and MRS scores were significantly higher in the expired cases. The 1-month mortality rate in this study was 4.08%.

Primary repair of extensor pollicis longus rupture after volar locking plating for distal radial fracture

We presumed that primary repair would be possible if the extensor pollicis longus (EPL) rupture after volar locking plating (VLP) for distal radius fracture (DRF) was diagnosed earlier. Thus, five cases of EPL ruptures were resolved via primary repair rather than extensor indicis proprius (EIP) transfer, so we reported the clinical outcomes of at least 2 years follow-up since EPL repair. Of 588 consecutive patients with the fractures treated between January 2016 and December 2019, 501 who met out inclusion/exclusion criteria were initially investigated. We informed patients of: (1) the ordinary range of motion of thumb at full wrist flexion/extension; (2) the proper tone of thumb extension compared to the contralateral thumb; and (3) the degree of pain/discomfort during thumb exercise. After discharge, we called each patient monthly commencing at 8 weeks postoperatively to enquire if any of those had worsened, by telephone. Five patients had ruptured EPLs diagnosed at a mean of postoperative-12.8 weeks. Three came to outpatient department for suspected tendon rupture just after telephone survey with the authors. The other two visited after detecting insufficiency in the three items, during the period between telephone inquiries. In four, the torn EPL were encapsulated by tendon sheathes. Extension lag at interphalangeal joint was absent and other clinical outcomes associated with DRF were all satisfactory at final follow-up. Primary repair of EPL rupture (rather than EIP transfer) is possible if patients are properly followed up after VLP for DRF. Level of evidenceLevel IV, retrospective case series.

Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy

To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening. 7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up. Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations. Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.

Temporal Trend of the Prevalence of Modifiable Risk Factors of Stroke: An Ecological Study of Brazilians between 2006 and 2012.

Stroke is one of the leading causes of death worldwide, including in Brazil. This study aimed to analyze the temporal trend of the prevalence of modifiable risk factors of stroke from 2006 to 2012. This ecological study was conducted by secondary analysis in May 2018, using data from the surveillance of risk factors and protection for chronic diseases by telephone inquiry (VIGITEL) available in the Department of Informatics of the Unified Health System (DATASUS). The modifiable risk factors of stroke in Brazilians were systemic arterial hypertension, diabetes mellitus, abusive alcohol consumption, overweight, and obesity. Overall, there was a significant increase in the risk factors of diabetes (β = 0.30, P = 0.001, r2 = 0.99), overweight (β = 0.50, P = 0.002, r2 = 0.98), and obesity (β = 0.88, P < 0.001, r2 = 0.96). However, there was a stability in the prevalence of hypertension (β = 0.25, P = 0.320, r2 = 0.88) and alcohol abuse (β = 0.32, P = 0.116, r2 = 0.49). There was an increase in the prevalence of diabetes mellitus, overweight, and obesity, but stability in systemic arterial hypertension and abusive alcohol consumption in the Brazilian population.

Clinical Features and Outcomes Following SARS-CoV-2 Infection in Pediatric Liver Transplant Patients.

Several studies suggest that chronic immunosuppression in pediatric liver transplant patients may affect the severity and mortality rates of SARS-CoV-2 infection. We assessed a total of 118 pediatric liver transplant recipients for SARS-CoV-2 infection, aged 1 to 18 years, followed between March 2019 and January 2022. We compared the clinical characteristics and outcomes of SARS-CoV-2 infection in pediatric liver transplant patients to 187 non-liver transplant pediatric patients with SARSCoV-2 infection who had been diagnosed at our institution between March 15, 2020, and December 31, 2020. Demographic data, clinical features, and laboratory findings from the patients were retrospectively collected from hospital reports and telephone inquiries. A total of 20 liver transplant patients with SARS-CoV-2 infection were identified. Median age of liver transplant recipients with SARS-CoV-2 infection was higher than non-liver transplant pediatric patients with SARS-CoV-2 (14.8 [range, 7-16] vs 6.8 [range, 2-14] years; P = .016). There were no significant differences in mild and moderate disease courses of SARS-CoV-2 infection between liver transplant recipients and non-liver transplant pediatric patients (18 [90.0%] vs 133 [71.1%] patients [P = .188] and 2 [10%] vs 49 [26.2%] patients [P = .118], respectively). Fever was less frequently observed in liver transplant patients with SARS-CoV-2 infection compared with non-liver transplant patients (55.0% vs 80.2%; P = .015). We found no intergroup differences in sex (P = .342), hospitalization rate (P = .161), and overall clinical presentation. Despite the immunosuppression regimens, liver transplant patients in our series survived SARS-CoV-2 infection without serious sequelae and without graft rejection. Overall, liver transplant and non-liver transplant pediatric patients with SARSCoV-2 infection experienced a mild disease course.

A retrospective review of calls to the Poisons Information Helpline of the Western Cape during the first 6 months of the COVID-19 pandemic in South Africa.

BackgroundSince the start of the coronavirus disease 2019 (COVID-19) pandemic, poison centres worldwide have reported an increase in exposures to chemicals used for infection prevention. Increased availability and use could lead to an increase in exposures. Potential effects on a South African Poison Information Helpline were unknown, therefore a study was performed to describe changes in call volume and profile of poison exposures.MethodsA retrospective analysis was conducted on an observational database of telephone enquiries. All human-related poisoning exposure call data collected from 01 March to 31 August during 2018, 2019 and 2020 were extracted and analysed. Summary statistics were used to describe all variables.ResultsThe total number of calls were 5137, 5508, and 5181 in 2018, 2019, 2020, respectively. The monthly call number during 2020 was mostly less than in 2019. More calls were received from the public calls (39.4% vs 33.1%) and for accidental exposures (65.6% vs 62.3%) increased during 2020 compared to 2019. Exposures to pharmaceuticals decreased by 14.8% from 2019 to 2020, while exposures to eucalyptus oil more than doubled from 21 in 2019 to 43 during 2020. Exposures to antiseptics and disinfectants increased by 60.4%, mainly due to hand sanitisers exposure which showed a 26-fold increase from 2019 (n = 6) to 2020 (n = 156).ConclusionA change in the profile of poison exposures was observed during the COVID-19 pandemic. Lockdown regulations and greater availability of antiseptics and disinfectants probably led to the increase in exposures. Although symptoms were mostly mild, the public should be educated on safe storage and proper use of all chemicals.

Pain Prevalence in Multiple Sclerosis in a Lisbon Tertiary Hospital: A Cross-Sectional Study.

Background: Multiple sclerosis is a chronic neurological disease with increasing incidence and prevalence worldwide being the main cause of non-traumatic disability in young adults. Both acute and chronic pain have been mentioned as the most common symptoms among those patients.Objective: This study was designed to evaluate the pain experience among patients with multiple sclerosis by describing its prevalence, characteristics, analgesic treatment and its efficacy, and also the impact of pain on quality of life.Methods: A cross-sectional observation survey was carried out on patients with multiple sclerosis followed in a tertiary hospital. Data were collected between December 2019 and March 2021 from a structured telephone inquiry, applying two questionnaires, the Brief Pain Inventory and the McGill Pain Questionnaire (MPQ), to evaluate the prevalence of pain and its impact on quality of life (QoL). Clinical records were also consulted to obtain data on disease duration, year of diagnosis, MS type, Expanded Disability Status Scale (EDSS) score.Results: Our sample included 305 patients in a universe of 1500, mainly women, with mean age of 44.27 years, and most of them presented with an outbreak-remission subtype of disease. One hundred twenty-four patients experienced pain which corresponds to 41% of the patients. Considering the patients who experienced pain, 67.7% were under treatment and of these, 64.3% with only one painkiller. Pain significantly interfered with general activity, mood, and regular work.Conclusion: Pain was an important symptom in this group of patients with MS and significantly interfered with mood, general activity, and regular work. The maximum intensity of pain felt by patients was significant and only 67.7% of patients were under analgesic treatment with mean pain relief of 54. NSAIDs were the most used drugs followed by gabapentinoids and acetaminophen for the management of pain. Medical community must continue to study this population in order to improve the approach to pain in these patients and improve quality of life.