Background: Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.
Methods: We recruited a Chinese female patient with hand-related AMC and her family members. Whole-exome sequencing (WES) was employed to determine the genetic etiologies of the patient's disease. The pathogenic mechanisms of the identified variations were analyzed using protein tolerance profiling and modeling.
Results: We identified two novel RIPK4 variants (c.1354G > A, p.E452K; c.1558A > T, p.T520S). Pathogenicity studies indicated that the c.1354G > A, p.E452K variant changed the charge from negative to positive and altered the chemical properties from acidic to alkaline, potentially significantly affecting protein function.
Conclusions: We reported the discovery of two novel RIPK4 variants (c.1354G > A, p.E452K; c.1558A > T, p.T520S) in a Chinese AMC female patient's family. Our study enhances the genetic repository for AMC and highlights the pathogenicity of RIPK4 variants, underscoring the significance of comprehensive management for genetic-related diseases, particularly the critical roles of prenatal diagnosis and genetic counseling.
Trial registration: The research protocol received approval from the Ethics Review Committee of Xiangya Hospital of Central South University in China (approval number: 202103427), registered in March 2021, with all participants providing duly signed informed consent forms.
Background: In recent months, Bordetella pertussis has reappeared after maintaining a low rate for many years. Although pertussis is usually characterized by a favorable course, several factors can contribute to the severity of the disease, such as mixed respiratory infections. In this study, we evaluate B.pertussis cases observed in the pediatric population followed at the Bambino Gesù Children's Hospital and analyzed the potential impact of co-infections in relation to disease severity.
Methods: From January to May 2024, a total of 1,151 children and adolescents (both inpatients and outpatients) were screened for the presence of respiratory pathogens, including B.pertussis, with clinically relevant respiratory symptoms.
Results: Among the 1,151 patients screened, 66 tested positive for B.pertussis. Fourteen patients had respiratory failure, and six of them required intensive care unit (ICU) admission, while 52 had mild infection. 23.3% of patients had B.pertussis alone, while 76.7% had co-infections (including 5 patients admitted to the ICU). A higher co-infection rate was observed in patients with respiratory failure than in those without failure (92.9% vs. 69.0%, p-value:0.041). Rhinovirus, Metapneumovirus and Parainfluenza-virus were the most prevalent in our pediatric population. Co-infections of human bocavirus with B.pertussis were observed exclusively in patients with respiratory failure.
Conclusions: Our results highlighted an increase in B.pertussis cases from January to May 2024, reaching a peak of cases in the month of May. This study shows a high rate of B.pertussis co-infection, and a trend toward association between B.pertussis and specific viruses, that might play a role in increasing disease severity.
Background: Anti-N-methyl-D-aspartic receptor encephalitis (Anti-NMDAR encephalitis) is the most prevalent form of autoimmune encephalitis in pediatric patients. Autonomic dysfunction is a frequent symptom of Anti-NMDAR encephalitis, yet it often goes unnoticed by pediatricians. Studies have indicated that pediatric patients with autonomic dysfunction exhibit a poorer prognosis compared to those without. To date, research on autonomic dysfunction in encephalitis has predominantly focused on adults, with no studies conducted on pediatric populations. This analysis examines the clinical features of pediatric patients with Anti-NMDAR encephalitis complicated by autonomic dysfunction.
Methods: We performed a retrospective analysis of patients diagnosed with Anti-NMDAR encephalitis at the Department of Neurology, Children's Hospital affiliated to the Capital Institute of Pediatrics, from June 2017 to June 2023. Patients were categorized based on the presence or absence of autonomic dysfunction during their illness. We summarized and compared the clinical features of children with autonomic dysfunction and analyzed the risk factors for its development in pediatric Anti-NMDAR encephalitis patients.
Results: A total of 56 children were included in this study. Twenty-two (39.3%) exhibited autonomic nervous dysfunction. The most prevalent symptom of autonomic dysfunction was cardiovascular autonomic dysfunction(21/22, 95%),with the specific manifestations being sinus tachycardia (8 cases), ventricular premature beats (2 cases), atrioventricular block (2 cases), atrial premature beats (3 cases), and sinus bradycardia (4 cases),hypertension(1 case) and cardiac arrest(1 case). Other symptoms included gland secretion dysfunction (19/22, 86%),ventilate dysfunction(3/22,14%), thermoregulatory dysfunction (3/22,14%), bladder dysfunction(2/22,9%). Compared to the group without autonomic dysfunction, the group with dysfunction showed significantly higher rates of prodrome infection, tumor complications (all ovarian teratoma), consciousness disturbance, elevated cerebrospinal fluid protein, initiation of second-line and long-term immunotherapy, length of hospital stay, and hospitalization costs (P < 0.05).
Conclusion: Among pediatric patients with Anti-NMDAR encephalitis, cardiovascular autonomic dysfunction is the most common form of autonomic dysfunction. Those with autonomic dysfunction have a worse prognosis and longer hospital stays. Active initiation of second-line and long-term immunotherapy is recommended.
Human adenovirus is an infectious agent that causes respiratory infections in adults and children. It has been found that immunocompromised children are highly susceptible to this pathogen, as it can swiftly evolve into severe pneumonia with multiple sequelae. Due to the lack of immunity in children, the body's response mechanisms to innate and acquired immunity are specialized. We first examined the infection classification and clinical characteristics associated with adenovirus in children. Subsequently, we explored the in-depth understanding of the pathogenic mechanism of adenovirus pneumonia in children, focusing on immunological and cellular biological aspects. Adenovirus infection in children can disrupt the balance of the innate immune response, inducing immune cells to secrete an abundance of pro-inflammatory cytokines. This cascade results in a cytokine storm, which triggers an inflammatory response and causes lung tissue damage. As a result, the infection may progress to a severe state, potentially leading to multi-organ failure. Immunocompromised children exhibit impaired immune cell numbers and functions, which affects both the secretion of antibodies to humoral immunity and the immune response of cellular immunity to adenovirus. Lastly, we reviewed the progress in treating adenovirus pneumonia in children. There are many treatments for adenovirus pneumonia in children, which must be personalized based on a thorough assessment to optimize treatment outcomes. Recent advancements in pharmaceutical development have provided new treatment options for children. Immunomodulatory therapy can reduce inflammation in children, while adjuvant therapy can improve respiratory function; however, it can also lead to complications. Further, co-infections increased the complexity of diagnosis and treatment, necessitating dynamic adjustments to treatment regimens. This review could serve as the basis for identifying potential therapeutic approaches to alleviate the symptoms associated with adenovirus infections in children.
Background: Angioedema is a condition marked by sudden, intense swelling of the subcutaneous and submucosal tissues, typically associated with hypersensitivity reactions, genetic mutations, or reactions to medications. It can also result from contact with allergens such as nickel, leading to dermatitis.
Case presentation: A 12-year-old girl presented at our Pediatric Immunology and Allergology service with recurrent labial angioedema for over a year, linked to the consumption of legumes and tomatoes, and following the use of a metal flute. Despite a nickel-positive patch test and subsequent avoidance of nickel, her symptoms persisted. Further investigations to rule out other causes of angioedema were unproductive. It was later discovered that she had been wearing a nickel-containing orthodontic device applied a year earlier. The removal of this orthodontic device led to a cessation of the angioedema episodes, highlighting nickel as the likely trigger.
Conclusions: This case underscores the importance of considering prolonged nickel exposure from dental devices as a potential cause of angioedema. For patients predisposed to nickel hypersensitivity, using nickel-free alternatives such as ceramic for orthodontic appliances is crucial. Additionally, comprehensive allergen screening, including latex testing, should be conducted before the placement of such devices to prevent similar adverse reactions.
Background: The issue of retreatment with surfactant of infants with respiratory distress syndrome (RDS) has been poorly investigated. Our aim was to identify possible clinical predictors of the need for multiple doses of surfactant in a large cohort of very preterm infants.
Methods: Data were analyzed from three previous studies on infants born between 25+ 0 and 31+ 6 weeks of gestation with RDS who were treated with surfactant.
Results: We studied 448 infants. Among them 306 (68%) were treated with a single dose of surfactant and 142 (32%) were treated with multiple doses. Multivariable mixed effects logistic regression analysis showed that the odd of requiring multiple doses of surfactant was significantly lower in patients with higher gestational age (27-28 vs. 25-26 wks: OR 0.46, 95% C.l. 0.26-0.79; ≥29 vs. 25-26 wks: OR 0.34, 95% C.l. 0.13-0.85; overall P = 0.013), while it increased in infants born to mothers with hypertensive disorders of pregnancy (OR 2.53, 95% C.l. 1.49-4.31; P < 0.001) and with hemodynamically significant PDA (OR 2.74, 95% C.l. 1.66-4.53, P < 0.001).
Conclusions: Gestational age, hypertension in pregnancy, and hemodynamically significant PDA can predict the need for multiple doses of surfactant. Further investigation is needed to evaluate if these sub-groups of preterm infants represent specific phenotypes of RDS who deserve a peculiar surfactant treatment.
Background: The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP).
Methods: This multicenter pilot observational study was conducted from May to September 2022 at the participating institutions, and enrolled school-aged children affected by CP. Enrolled children played GiocAbile in single-player mode for one hour. The gaming experience was evaluated through self-assessment questionnaires. Non-parametric correlation analysis was conducted to examine the influence of motor and cognitive abilities (GMFCS, MACS, ICF) on declared usability and acceptability.
Results: Nineteen children (9.01 ± 1.95 years, 63.1% male) with mild to severe CP were enrolled. The 100% of respondents expressed satisfaction and fulfillment associated with gameplay, with no reports of frustration or disappointment. The 83% would recommend the game to a friend. The controllers were generally deemed easy to use and maneuver, with very few reports of discomfort associated with their use. No correlations were found between usability/acceptability levels and measures of impairment (i.e., GMFCS, MACS, and ICF scales), while cognitive impairment positively correlated with satisfaction during gameplay.
Conclusions: GiocAbile is an accessible, user-friendly and enjoyable tool for children with CP, regardless of level of impairment. Based on existing literature, we hypothesize that GiocAbile may improve motivation, participation, and rehabilitation outcomes in children with CP, although further studies are needed to confirm our hypothesis.
From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions. In general, children sensitize less frequently and have less severe reactions than adults, probably due to less exposure to repeated stings and fewer comorbidities. There are risk factors for systemic reactions that should be discussed with patients and their parents as appropriate. A correct diagnosis of Hymenoptera venom allergy relies on a careful clinical history and the appropriate use of skin and in vitro tests. The in vitro tests include serum specific IgE toward venom extracts and toward allergenic molecules. In complex diagnoses, CAP-inhibition and the Basophil Activation Test can also be used. In the presence of a systemic reaction, the basal serum tryptase measurement should be performed to rule out mastocytosis. In case of allergic reactions to Hymenoptera stings, in the acute phase, according to the current guidelines, the treatment of signs and symptoms mainly includes the use of adrenaline as first-line treatment in case of anaphylaxis and antihistamines and corticosteroids as subsequent lines of treatment. Given the impossibility of avoiding a new sting with certainty, the treatment of choice in subjects with hypersensitivity to Hymenoptera venom who have experienced systemic reactions is based on venom immunotherapy (VIT), with the venom of the responsible stinging insect identified after an adequate allergological work-up. VIT is performed in a suitable environment and has proved to be safe and effective with various administration protocols, both accelerated and conventional. The prevention of Hymenoptera venom anaphylaxis in patients who have already developed a previous episode is crucial and must be supported by environmental protection interventions and early therapy. Places where one is more likely to encounter insects and risky behaviors should be avoided.
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