Clinical Medicine Insights-Pediatrics最新文献

Ralstonia pickettii are gram-negative bacilli primarily responsible for opportunistic nosocomial infections in immunocompromised patients. Outbreaks involving use of contaminated medical solutions as well as sporadic cases of meningitis, nosocomial pneumonia, infective endocarditis, and central line-associated bloodstream infection (CLABSI), have been reported in the past. Treatment is still not well-defined owing to its varied susceptibility to commonly used antibiotics, particularly carbapenems and aminoglycosides. The author reports 2 cases of CLABSI with R. pickettii, in pediatric patients from a tertiary care hospital in Karachi, Pakistan. First case was of a 12-day-old male with Atrial Septal Defect and Patent Ductus Arteriosus, who had a peripherally Inserted central catheter (PICC) placed to facilitate nutrition. Second case was of a 7-year-old male with known B-cell acute lymphoblastic leukemia (B-ALL), with PICC line in place for treatment. The antimicrobial susceptibility pattern of both isolates revealed resistance to aminoglycosides and meropenem, whereas trimethoprim-sulfamethoxazole was susceptible, paving the way for successful management in both cases and potentially serving as a valuable option against multidrug-resistant R. pickettii strains. To address these emerging pathogens, it is critical to implement a customized antibiotic policy and adhere to antimicrobial stewardship recommendations and infection control protocols.

Objective: The objective of this study was to assess the risk of dental caries in relation to fingerprint patterns in children with hearing impairment.

Methods: This study involved 373 children selected from 3 different schools of children with hearing impairment. Dental caries status was recorded using the DMFT index. Participants were then categorized into 3 distinct groups. Dermatoglyphic patterns on all 10 palmar digits of each individual were recorded using the Cummins and Midlo method. The patterns were analyzed using a magnifying lens (X2 magnification).

Results: The gender distribution among the participants was 54.2% male and 45.8% female. The average age of the participants was 14.19 ± 2.146 years. In terms of communication methods, the majority of participants (95.4%) used sign language, while a small percentage (3.2%) relied on lip reading, and only 1.3% used a hearing aid.

Conclusions: No single fingerprint pattern demonstrated a significant predominance associated with dental caries incidence in the study.

Background: Despite recent declines in under-5 mortality, neonatal sepsis rates remain high, especially in low- and middle-income countries. This study examined the prevalence and risk factors of neonatal sepsis at Kawempe National Referral Hospital (KNRH), Uganda's primary maternal and neonatal care centre.

Methods: A cross-sectional survey was conducted in KNRH's special care unit from October 2021 to December 2021. Sociodemographic and clinical data were collected from mothers and patient case records of consecutively sampled neonates using an interviewer-administered electronic questionnaire. Neonatal sepsis was defined based on diagnosis in the patient case record, regardless of bacteriological confirmation, and classified as early-onset (diagnosed within 72 hours) or late-onset (after 72 hours). Logistic regression was used to identify factors associated with neonatal sepsis.

Results: Out of 265 neonates enrolled, 56.8% were boys with a median age of 4 days (interquartile range = 2-7). Half (51.1%) were born pre-term, and most (71.3%) were delivered vaginally. Hospital deliveries were predominant (70.9%), while 25.7% occurred in peripheral clinics and 3.4% at home. One-third of the mothers reported experiencing fever (pyrexia) around the time of delivery. The prevalence of neonatal sepsis was 35.8%, with 62.1% of the cases being late-onset. Significant factors associated with neonatal sepsis included delivery from a peripheral clinic (aOR = 2.2, 95% CI = 1.2-4.1, P = .010), maternal perinatal pyrexia (aOR = 3.4, 95% CI = 1.8, 6.3, P < .001), meconium stained liquor (aOR = 2.4, 95% CI = 1.3, 4.6, P = .005), poor cord care (aOR = 7.4, 95% CI = 1.3, 42.3, P = .025), and prelacteal feeding (aOR = 3, 95% CI = 1.4, 6.7, P = .007) while neonates delivered by caesarean section (aOR = 0.4, 95% CI = 0.2, 09, P = .02) and those who initiated breastfeeding in the first hour of life (aOR = 0.1, 95% CI = 0.1, 0.2, P < .001) were associated with lower chances of getting neonatal sepsis.

Conclusions: The prevalence of neonatal sepsis at KNRH is high, with the majority of cases being late-onset. Mothers should be educated on treating fevers early during pregnancy, and antenatal care should focus on hygiene, sanitation, and nutrition. Strengthening infection prevention and control practices in health facility settings could reduce late-onset neonatal sepsis, especially in peripheral clinics.

Congenital bile acid synthesis disorder type 1 is an extremely rare disease with around 100 cases identified worldwide. Diagnosis remains challenging for pediatricians in view of the non-specific, variable clinical presentations of cholestasis, fat malabsorption, and liver cirrhosis. Early diagnosis and therapy with cholic acid are crucial to reverse the hepatopathy and prevent fatal outcomes. This paper sheds light on the diagnostic challenges of congenital bile acid synthesis disorder type 1 in a patient with an unusual presentation and a previously unreported mutation in the HSD3B7 gene. Moreover, this report aims to increase awareness of this treatable disorder among pediatricians. A 4-year-old child presented to our Medical Center with splenomegaly, fever, multiple lymphadenopathies, and mild cholestasis without hepatomegaly. History was remarkable for recurrent infections since the age of 3 years. Differential diagnosis included viral infections, malignancies, and inherited metabolic disorders. After an extensive negative work-up, genetic testing by next-generation sequencing identified a previously unreported homozygous disease-causing variant in the HSD3B7 gene, confirming the diagnosis of congenital bile acid synthesis disorder type 1. Suggestive abnormal urinary bile acids metabolites were also identified. Bile acid replacement therapy was initiated with reversal of cholestasis. This case highlights an unusual phenotypic presentation and the diagnostic challenges of an extremely rare disorder of bile acid synthesis. An increased awareness among pediatricians and the use of next-generation sequencing as a first-tier test in the setting of non-specific clinical presentations may shortcut the list of extensive investigations, allowing an early diagnosis of such treatable disorders, thus improving the patients' outcomes.

Infantile-onset Pompe disease (IOPD) is a rare genetic disorder associated with a deficiency of a lysosomal enzyme, the acid alpha-glucosidase. It is characterized by the accumulation of lysosomal and non-lysosomal-bound glycogen in various organs, such as the heart, skeletal muscle, and brain tissue, resulting in muscle weakness, hypertrophic cardiomyopathy, respiratory insufficiency, and other complications. Without treatment, IOPD has a very high mortality rate, with patients dying within the first year of life. Over the past few decades, significant therapeutic advancements have been made to improve the prognosis and quality of life for IOPD patients. Enzyme replacement therapy (ERT) with recombinant human GAA has been the cornerstone of treatment, demonstrating efficacy in prolonging survival and reducing cardiac hypertrophy. However, ERT has limitations, including the development of immune responses, inconsistent skeletal muscle uptake, and the inability to cross the brain barrier. Recent research has focused on enhancing ERT through adjunctive therapies such as immune modulation, gene therapy, and chaperone-mediated approaches to improve enzyme delivery and function. Additionally, advancements in early diagnosis, including newborn screening, have enabled timely intervention, which is crucial for better outcomes. This review comprehensively examines the current therapeutic strategies for IOPD, their efficacy, challenges, and future directions for managing this disease.

Background: Current guidelines recommend extensively hydrolyzed cow's milk protein formulas (EHF) as the first-line treatment for infants diagnosed with cow's milk allergy (CMA). Recently, rice hydrolysate formula (RHF) has emerged as a plant-based alternative with potential advantages in taste, cost-effectiveness, and safety.

Objective: Our comprehensive systematic review aimed to evaluate the efficacy of RHF in managing CMA and assess the growth standards of children in short-term follow-up.

Methods: We searched PubMed, Scopus, Cochrane, Embase, and Web of Science databases for relevant studies published until May 2024. Eligible studies were selected based on the inclusion criteria. Data extraction covered study characteristics, Z-scores (weight and length for age, weight for length, body mass index [BMI], and head circumference), tolerance, atopic manifestations, IgE levels, and symptoms-based score (SBS). Quality assessment was performed using appropriate tools for different study designs. Data analysis focused on identifying trends in growth parameters and tolerance outcomes among infants with CMA.

Results: Seventeen studies, 1695 infants with CMA, and 145 healthy infants were included in the review. Weight-for-age Z-scores varied initially but showed improvement after the first month, except in 1 study. It showed a Z score decreased by an average of 0.69 from the baseline. Length-for-age Z-scores exhibited inconsistency, and RHF tended to have negative effects but performed better than the soy formula. Weight-for-length Z-scores indicated RHF as a reasonable alternative in the first 6 months. RHF gradually enhanced BMI over 6 months. Head circumference Z-scores varied, with RHF showing mixed results compared to cow's milk protein formula. Tolerance to RHF increased steadily over 2 years. Atopic manifestations at 36 months were moderate for RHF. IgE tests revealed similar sensitization rates across different formulas, and RHF showed effectiveness in symptom reduction over 6 months.

Conclusion: This comprehensive review suggests that RHF can effectively substitute cow's milk formula in managing CMA. These formulas are well tolerated in infants, have varying impacts on growth development, and show promise in reducing atopic symptoms.

Background and aim: Pediatric patients undergoing cardiac surgery prior to 1992 in Denmark were at risk of hepatitis C virus (HCV) infection through donor blood used in extracorporeal circulation. HCV screening became possible in donors in 1991, eliminating the risk of iatrogenic infections. No formalized screening has been conducted for patients receiving non-screened blood, potentially leaving some with undetected HCV infection.

Objectives: This study aimed to determine the prevalence of chronic HCV infection in this group of patients and offer treatment to those affected.

Design: Nationwide cross-sectional study.

Methods: Between 2020 and 2023, 1645 individuals who underwent pediatric heart surgery before 1992 in Denmark were identified. Participants were invited for HCV screening using anti-HCV-antibody and HCV-RNA tests. Patients testing positive for HCV were referred to direct-acting antiviral (DAA) treatment.

Results: Of 1645 patients identified, 571 consented to participate, and 246 completed HCV screening. Two individuals tested positive for chronic HCV infection, resulting in a prevalence of 0.8%. Both patients were asymptomatic for many years before treatment and successfully cleared the virus after DAA treatment.

Conclusions: The 0.8% prevalence of HCV in this cohort is higher than in the general Danish population although lower than in similar studies from the U.S. and Germany. This may reflect Denmark's practice of unpaid blood donation, reducing infection risks. Targeted screening for at-risk cohorts exposed to transfusions before 1992 could aid in HCV detection and treatment, potentially preventing long-term liver complications.

Registration: The study was approved by the Capital Region Ethics Board in Denmark (j.nr. H-18062088).

Adnexal masses are uncommon in children but are increasingly recognized due to advancements in diagnostic facilities. Such masses in the pediatric population often raise concerns about malignancy. Typically, these masses are small and can resolve spontaneously; however, larger ones can pose a diagnostic dilemma due to their signs and symptoms, requiring clinicians to be particularly vigilant. Simple ovarian cysts are seen in 1 in 2500 live births. They are commonly diagnosed prenatally as intra-abdominal masses by ultrasonography. While there are no established guidelines for management, larger cysts are generally managed surgically (either open or laparoscopic) with the aim of protecting the ovaries and ensuring future fertility. Herein, we present a case of an unusually large congenital ovarian cyst in a newborn that mimicked an abdominal mass, leading to respiratory compromise.

Neonatal sepsis, a bloodstream infection in the first 28 days of life, is a leading cause of morbidity and mortality among infants in both developing and developed countries. Additionally, sepsis is distinguished in neonates by unique pathophysiological and presentational factors relating to its development in immature neonatal immune systems. This review focuses on the current understanding of the mechanics and implications of neonatal sepsis, providing a comprehensive overview of the epidemiology, aetiology, pathophysiology, major risk factors, signs and symptoms and recent consensus on the diagnosis and management of both early-onset and late-onset neonatal sepsis. It also includes a discussion on novel biomarkers and upcoming treatment strategies for the condition as well as the potential of COVID-19 infection to progress to sepsis in infants.

Background: Caregivers are deeply concerned about children achieving independent walking, and evidence-based rehabilitation support is beneficial. However, current research is confined to a single study on spina bifida aperta, leaving a gap in understanding the timing of independent walking for lumbosacral lipomas.

Objectives: This study aimed to examine the factors influencing independent walking in children with lumbosacral lipomas.

Design: Retrospective cohort study.

Methods: This retrospective cohort study included 124 children who underwent untethering surgery for lumbosacral lipomas. The age (in months) at which the children walked independently was used as the primary endpoint, and potential influencing factors, including the type of spinal lipoma, extent of lipoma removal, magnetic resonance imaging features, congenital anomaly complications, urinary/defecation management requirements, foot/toe symptoms, and orthotic device fabrications were analyzed.

Results: Multiple logistic regression analysis showed that the most significant influencing factor for delayed independent walking was the presence of systemic combined anomalies (adjusted odds ratio = 15.5, P < .001), while non-systemic malformations, such as suburethral cleft, had limited effects. A subgroup analysis of 94 patients without systemic combined anomalies showed that the presence of a malformed conus medullaris was significantly associated with delayed independent walking (P = .014). The median age of independent walking in children with Morota's classification type 2 was 14 months, which is 1 month later compared to other types, although this difference was not significant (P = .055).

Conclusion: Our findings suggest that complications arising from systemic combined anomalies and the presence of malformed conus medullaris are influencing factors in delays in independent walking in children with untethered lumbosacral lipomas.