Objective: A firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of children with 46,XY DSD.
Methods: A retrospective study was conducted on children with 46,XY DSD. They were referred to a tertiary surgical center during the period between 2011 and 2022 and were found to have genetic alterations, which were considered etiologies for their DSD. Data on clinical presentations, sex of rearing, genetic findings, surgical treatment, and comorbidities were collected and reviewed.
Results: A total of 21 patients were included in the study: 11 and 10 were reared as male and female, respectively. Genetic alterations were found as the causes for androgen insensitivity syndrome (n = 4), 5-alpha reductase type II deficiency (n = 5), 17-beta hydroxysteroid dehydrogenase III deficiency (n = 1), 17-alpha hydroxylase deficiency (n = 1), and gonadal dysgenesis (n = 10). Of those with gonadal dysgenesis, the genetic alterations were NR5A1 mutation/deletion (n = 3), DMRT1 deletion (n = 4), WT1 mutation (n = 2), and DAX1 duplication (n = 1). A total of 20/21 patients underwent one or more surgical procedures including hypospadias repair (n = 10), gonadectomy (n = 11), gonadal biopsy (n = 4), hernia repair (n = 4), orchidopexy (n = 1), and feminizing genitoplasty (n = 1). A total of 5/21 had germ cell neoplasms in one or both gonads. A total of 8/10 patients with gonadal dysgenesis had comorbidities involving other systems. Of the whole group, seven patients were found to inherit genetic alterations from their parents.
Conclusions: Molecular genetic diagnosis enhances the understanding of etiology, improves diagnostic accuracy, and provides precise guidance in the counseling and surgical management of children with 46,XY DSD.
Background: Multisystem inflammatory syndrome in children (MIS-C) is a disease that occurs after exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Its short-term effects have been documented but little data exist on the longer term effects of MIS-C on the health and quality of life (QOL) of patients. The objective of this study was to assess the long-term effects of MIS-C on the QOL of children.
Methods: This study was a descriptive prospective study. We included 24 participants with previous MIS-C and 20 children with juvenile idiopathic arthritis (JIA) as a positive comparator group. All children were examined and completed a paediatric quality of life (PedsQL) generic inventory score. This score was used to evaluate the School Functioning, Social, Emotional, and Physical QOL domains.
Results: All participants with previous MIS-C made a full recovery, with no medical complaints, and normal physical examinations after a median of 705 days post acute diagnosis. The PedsQL inventory revealed that 16.7% of the children with previous MIS-C showed a deficit in the physical domain compared to 60% of the children with JIA (p < 0.001). 12.5% of the children with previous MIS-C had a deficit in their psychosocial domain which included emotional, social, and educational scores, compared to 40% of the children with JIA (p = 0.035).
Conclusions: In a cohort of 24 South African children with previous MIS-C, no medical complications were reported. A small proportion felt a prolonged effect on their QOL even after making a full recovery, although this was not as severe as children with JIA, a known chronic disease that affects QOL. This highlights the need to continue to follow up these patients and offer more comprehensive long-term care.
Background: Acute lymphoblastic leukemia (ALL)-based therapeutic regimens have markedly improved the survival of children with ALL and lymphoblastic lymphoma (LBL). However, survivors are at risk of secondary neoplasms. Few studies on such secondary neoplasms have been conducted outside of Europe and the United States. The aim of this study was to evaluate the incidence of, risk factors for, and outcomes of secondary neoplasms in long-term survivors of ALL and LBL at a tertiary pediatric oncology center in Mie prefecture, Japan.
Procedure: We retrospectively reviewed 188 patients with ALL and LBL who were treated with an ALL-based therapeutic regimen at Mie University Hospital from January 1, 1977 to December 31, 2022 and followed up.
Results: Ten patients developed secondary neoplasms, with 10-year and 20-year cumulative incidences of 2.9% [standard error (SE) = 1.5%] and 5.5% (SE = 2.3%), respectively. The median interval between the primary-cancer diagnosis and secondary-neoplasm diagnosis was 18.5 years (range: 7.8-41.7 years). All 10 secondary neoplasms were central nervous system (CNS) tumors (6 meningiomas and 4 high-grade gliomas). Radiotherapy (p = 0.007) and CNS involvement in the primary cancer (p < 0.001) increased the risk of secondary neoplasms among long-term survivors. Gliomas occurred significantly earlier than meningiomas (p = 0.047), and three patients died of secondary neoplasms (all gliomas).
Conclusions: As secondary gliomas occurred earlier than meningiomas and are associated with poor outcomes, physicians should take great pains to minimize their risk to improve long-term survival and quality of life.
Introduction: Obesity, characterized by abnormal fat accumulation, has become a significant global health concern. The prevalence of obesity in preschool children is rising across regions, highlighting the need for a thorough analysis of risk factors and effective interventions to address this growing epidemic. The aim of this study was to identify and analyze the main risk factors for the development of obesity in preschool children and explore effective interventions.
Methods: We collected clinical data from 910 preschool children who underwent a physical examination at our hospital from January 2023 to December 2023. Based on specific inclusion and exclusion criteria, we categorized the children into two groups: the obesity group (149 cases) and the non-obesity group (761 cases). Using univariate analysis and logistic regression modeling, we identified risk factors associated with obesity development.
Results: Out of the 910 children, 149 were diagnosed as obese, representing 16.37% of the total. High birth weight, high parental body mass index (BMI), picky eating habits, preference for meat, frequent consumption of junk food, and binge eating were found to be significant risk factors for obesity in preschool children. Meanwhile, higher parental education levels and longer daily outdoor activity times were considered protective factors against obesity.
Discussion: Effective interventions targeting the above risk factors are necessary to minimize the incidence of obesity and promote the healthy development of children.
Background: Harmful substance-related infections that cause neonatal deaths on the umbilical stump continue to be a major cause of worry, accounting for a large portion of the yearly mortality toll in developing nations such as Ethiopia. In our study region, there is, however, little data regarding these issues. In Chencha town, Southern Ethiopia, mothers who gave birth in the last six months were the subjects of this study.
Methods: A community-based cross-sectional mixed study design was conducted among mothers who gave birth within the past six months, from April to May 2023. Quantitative data was collected through structured interview questionnaires from 312 randomly selected mothers. The collected data was coded, cleaned, and entered into Epi-info version 7.2.5.0, and analyzed using SPSS version 26. Binary logistic regression analysis was used to identify associated factors, and the strength of association was measured by odds ratios with a 95% confidence interval at a p-value of <0.05. The audio-recorded qualitative data were transcribed in Amharic language and then translated into English and entered into Open Code software version 3.6.2 for analysis using the thematic content analysis method.
Results: Harmful newborn cord care practice was prevalent among 55.8% (95% CI: 50.1, 61.4) of the mothers. Factors such as husband's educational status (AOR = 3.09, 95% CI: 1.11, 8.67), communication on cord care within the community (AOR = 10.24, 95% CI: 5.44, 19.28), and discussions with health workers regarding cord care (AOR = 7.26, 95% CI: 3.59, 14.64) demonstrated significant associations with harmful newborn cord care practice (p < 0.05). In the qualitative analysis, four themes emerged such as substance applied (butter, Vaseline, and ointment). The reasons for application were moisturizing the cord, facilitating its separation, and promoting its healing. The sources of advice on cord care were relatives, neighbors, and HCW.
Conclusion: This study revealed that harmful newborn cord care practice was prevalent among 55.8% [95% CI (50.1, 61.4)] of mothers who gave birth in the last six months. The present study identified husbands' educational status, exposure to cord care messages through interpersonal communication in the community, and mothers who didn't ever engage in discussion with health workers about cord care as significant factors.
Background: Pediatric thrombosis is a relatively rare but severe condition in the field of pediatrics, with far-reaching consequences. Recent studies have indicated a rising incidence of this disease in children over the years. Additionally, the pharmacological treatment of thrombotic diseases in children faces numerous challenges. Due to significant physiological differences between children and adults, guidelines for the prevention and treatment of thrombotic diseases in adults cannot be directly applied to pediatric patients.
Purpose: A systematic review of the existing evidence-based medical literature should be conducted to propose pharmacological prevention and treatment recommendations for pediatric thrombotic diseases. Developing a comprehensive and practical pharmacotherapy guideline for the prevention and treatment of pediatric thrombotic diseases is essential to enhancing the rational use of medications in managing these conditions in children.
Methods: The guideline development followed the World Health Organization's (WHO) Handbook for Guideline Development. This involves systematically searching and extensively collecting data on common medication issues in the prevention and treatment of pediatric thrombosis nationwide. The Delphi method was used to survey experts and identify the clinical issues to be included. Subsequently, a systematic literature review was conducted to evaluate existing primary studies, systematic reviews, and guidelines or consensus statements from professional organizations. The quality of the evidence was assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. The Delphi method was employed again to reach a consensus on the recommendations and evidence levels. This process was culminated in the development of the Guideline for Pharmacological Management of Thrombotic Diseases in Children.
Results: During the guideline development process, a total of 29 clinical issues were collected and evaluated by 78 experts in clinical pharmacy and clinical medicine. Through two rounds of surveys, 13 clinical issues were selected. Under the supervision of two methodologists, 13 clinical pharmacotherapy recommendations were formulated.
Conclusion: By conducting a comprehensive assessment of the feasibility and safety of clinical practices, the guideline provides specific anticoagulant medication recommendations for pediatric healthcare professionals. This will help enhance the prevention and treatment of pediatric thrombosis, promoting more standardized and effective medical practices.
Purpose: To understand the status of vitamin D deficiency in girls with growth and developmental variations, as well as the impact of COVID-19 on their vitamin D levels, and to provide reference for the prevention and treatment of vitamin D deficiency in children.
Methods: A retrospective analysis was conducted on 1,345 instances of girls with growth and developmental variations who visited our pediatric endocrinology department and completed vitamin D detection. A total of 279 girls with complete data were included in this study. Among them, 246 girls were classified into four groups based on different growth and developmental variations: early puberty group, menarche group, obesity group, short stature group, and 33 healthy girls served as the control group. Besides, the girls were divided into pre-epidemic and post-epidemic groups by the occurrence of the COVID-19 epidemic. Vitamin D were measured in all girls. The 25(OH)D <20 ng/ml was used as the standard for vitamin D deficiency.
Results: The levels of vitamin D in the early puberty group, menarche group, obesity group, short stature group, and control group were as follows: 20.23 ± 5.90 ng/ml, 17.85 ± 5.69 ng/ml, 21.31 ± 8.99 ng/ml, 27.90 ± 12.27 ng/ml, and 29.42 ± 12.65 ng/ml, respectively. The levels of vitamin D in the early puberty group, menarche group, and obesity group were significantly lower than those in the control group (P < 0.05). The individual vitamin D deficiency rates in the aforementioned groups were 52.07%, 73.91%, 59.46%, 30.95%, and 30.30%, respectively. The vitamin D levels in the pre-epidemic and post-epidemic groups were 20.48 ± 6.22 ng/ml and 22.50 ± 9.74 ng/ml, respectively (P > 0.05).
Conclusion: Girls with early puberty, menarche, and obesity have a certain deficiency of vitamin D levels, and appropriate vitamin D treatment should be provided clinically. Girls with short stature and healthy girls also have certain levels of vitamin D deficiency, and awareness of prevention should be strengthened.
Introduction: Neonates with congenital diaphragmatic hernia (CDH) have an associated high mortality and morbidity. The European CDH EURO consortium has developed guidelines for initial and perioperative ventilatory management. There are, however, no recommendations on how to wean these patients from the ventilator. Extubation failure is more frequent in this group of patients than in other neonates. The aim of this study was to describe patient characteristics and risk factors for failed extubation and to evaluate predictive factors for successful weaning.
Methods: We performed a retrospective study in a single centre tertiary pediatric intensive care unit in Stockholm, Sweden. CDH-patients (n = 38), aged 0-28 days, with extubation events were identified from 2017 to 2019. Eight patients (21.1%) needed reintubation within 24 h after the first extubation attempt. Patient demographics, surgical repair with patch, oxygenation saturation index (OSI), rapid shallow breathing index (RSBI), ventilatory settings, fluid balance and sedation on the day of extubation were recorded.
Results: Patients in the failed extubation group (FE) had lower birth weight (p < 0.05), surgical patch repair (p < 0.05), longer length of stay in intensive care (p < 0.05), longer time on the ventilator (p < 0.05) and other comorbidities (p < 0.001). Using logistic regression we identified OSI, RSBI and inspiratory pressure (Pinsp) as factors predicting a successful extubation, AUCROC 0.95 (95% CI: 0.87 to 1.00). Patients in the FE-group had significantly more often pulmonary hypertension requiring treatment (p < 0.05), a higher fraction of inspired oxygen (FiO2) (p < 0.05) and hypercapnia (p < 0.001) prior to extubation and an oxygen demand exceeding 40% two hours after extubation (p < 0.05).
Conclusion: Useful predictors of successful extubation in CDH patients are OSI, RSBI and Pinsp. Low birth weight, patch repair and comorbidity also appear to be important factors. Prospective studies are required to confirm findings in the present study.
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