Clinical Medicine Insights-Pediatrics最新文献

Background: Sepsis is a leading cause of neonatal morbidity and mortality, but its early diagnosis remains challenging. Neonatal sepsis (NS) induces an immune response with the release of Inflammatory cytokines, which may serve as early diagnostic biomarkers. Limited data indicate interleukin (IL)-18 and IL-22 levels are elevated in NS and associated with mortality.

Objectives: To investigate the diagnostic performance of serum IL-18 and IL-22 levels in predicting NS and mortality.

Design: Case-control study.

Methods: We enrolled 55 newborns with culture-positive sepsis and 34 age- and sex-matched healthy controls. Serum IL-18 and IL-22 levels were measured using enzyme-linked immunosorbent assay. Receiver operating characteristic (ROC) curve analysis was used to assess the diagnostic performance of IL-18 and IL-22 in predicting NS and mortality.

Results: Compared with controls, newborns with NS had significantly higher median levels of IL-18 (910 vs 256 pg/mL, P < .001) and IL-22 (96 vs 20 pg/mL, P < .001). Among septic neonates, non-survivors had significantly higher median levels of IL-18 (1820 vs 873 pg/mL, P < .001) and IL-22 (139 vs 91 pg/mL, P < .001) than survivors. ROC curve analysis demonstrated excellent performance of IL-18 and IL-22 in predicting NS (area under the curve [AUC] 0.990 and 0.998, respectively) and mortality (AUC 0.942 and 0.994, respectively).

Conclusion: IL-18 and IL-22 are potentially promising biomarkers for identifying NS and predicting neonatal mortality.

Primary pulmonary tumors are rare in pediatric patients, and benign types are more frequently observed than malignant ones. Granular cell tumors (GCTs), of neuroectodermal origin, are uncommon in the lungs and especially rare in children. We report a case of a 16-year-old female with persistent respiratory symptoms initially diagnosed as asthma, who was ultimately found to have a bronchial granular cell tumor. The diagnosis was confirmed histopathologically, and the lesion was removed via rigid bronchoscopy. We also provide a review of the literature focusing on pediatric pulmonary GCTs. Granular cell tumors should be considered in the differential diagnosis of adolescents with persistent respiratory symptoms unresponsive to medical therapy. Early imaging and bronchoscopy can assist in timely diagnosis and lung-sparing treatment.

Background: Problems of the gluteal cleft are often due to pilonidal disease, but at times need to be distinguished from other diseases. We reported a series of adolescent patients with non-pilonidal gluteal cleft pathologies.

Methods: We performed a retrospective review of all patients who presented to our pediatric Pilonidal Clinic from 1/2019 to 12/2023. Patients who received a work-up for diseases separate from pilonidal disease were included in our study. Patient demographics, clinical work-up, and treatment outcomes were recorded.

Results: We identified 21 patients who had diagnoses other than pilonidal disease: 4 patients had neurological diseases (schwannoma, central disk protrusion, arachnoid cyst, Tarlov cyst); 7 patients had dermatological diseases (folliculitis, moisture-associated skin damage); 5 patients had inflammatory bowel disease; 4 patients had sacral dimples; and 1 patient had a sacral pressure ulcer. Diagnostic decisions were based on the presence and location of an open wound, history of immobility, presence of gluteal cleft swelling or pit, clinical symptoms of pain or erythema, and other similar lesions on the body. These characteristics were utilized to differentiate the diagnoses and construct a diagnostic algorithm.

Conclusions: We developed a practical diagnostic algorithm for differentiating gluteal cleft pathologies in adolescents, including dermatologic, colorectal, neurologic, and traumatic causes.

Background: This qualitative study investigates the impact of hospital clown interventions on the well-being of an adolescent girl undergoing cancer treatment, focusing on the connections formed and the transformation of the hospital environment.

Objectives: The study aims to analyze the reflective narratives of hospital clown artists who interacted with a 14-year-old girl over a year, using a humanistic psychology framework and autoethnography to understand the quality and impact of their relationship.

Design: A qualitative research design was employed, utilizing autoethnographic methods.

Methods: Content analysis was conducted on the clowns' narratives to explore the evolving relationships between the clowns, the adolescent patient (Maria), and her mother, Teresa.

Results: The study highlights the profound impact of meaningful human connection facilitated by hospital clowns, demonstrating their ability to create a supportive and joyful environment for the patient and her family. Key themes identified include connection and identity, joy amidst adversity, rituals of connection, grief and loss, and legacy and memory.

Conclusions: The findings suggest that hospital clown interventions can transform a clinical hospital environment into a space of joy, connection, and shared humanity. These interactions meet the emotional and psychological needs of young patients dealing with cancer, emphasizing the importance of human connection in navigating disruptive illnesses.

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 diabetes mellitus. pediatrics with an incidence rate of 1% to 10% per patient, children have the possibility of dying due to cerebral edema and have significant mortality and morbidity. Diabetic ketoacidosis is unfortunately becoming more common in African nations due to insufficient public healthcare systems.

Objective: The objective is to assess the Incidence and Predictors of Diabetic Keto-acidosis Among Children Under 15 Years At Central Ethiopia Public Hospital in A Retrospective Cohort Study 2022.

Methods: Wachemo University Specialized Hospital in Hadiya Zone, central Ethiopia, recruited 390 children with diabetes mellitus.

Design: It is a retrospective cohort study. The time frame for the study was January 1, 2018, through December 30, 2021. Predictors of diabetic ketoacidosis were examined using the Cox proportional hazard model. In the end, the Cox-regression hazard model contained predictors whose hazard ratio, 95% confidence interval (CI), and P-value were less than .25 in the bivariable analysis. Statistically significant at a P-value of less than .05.

Result: A total of 378 child records were examined, yielding a 96.92% response rate. 207 (54.8%) of the 378 recruited children experienced DKA, with a mean follow-up period of 20.83 months and a 95% CI = (49.72, 59.80; 19.54, 22.12). In the cohort, there were 26 incidences of DKA for every 1000 children per month. The following factors were reported to be substantially linked with diabetic ketoacidosis: age <5 years AHR = 2.5 (1.61-3.86), living in a rural location AHR = 1.48 (1.02-2.16), co-morbidity AHR = 1.51 (1.10-2.08), and missed DM follow-up AHR = 1.6 (1.17-2.18).

Conclusion: In this study, the incidence of diabetic ketoacidosis was seen in over half of the children. Intervention strategies and early patient identification at risk for this increased incidence of diabetic ketoacidosis.

MEGDEL syndrome is a rare autosomal recessive disease characterized by 3-methylglutaconic aciduria, deafness-dystonia, hepatopathy, encephalopathy, and leigh-like syndrome, which results from biallelic pathogenic variants in SERAC1 gene. The diagnosis is commonly challenging due to the diverse clinical manifestations. Herein, we report the first case of MEGDEL syndrome from the Egyptian population. This is a 7-year-old boy born to first cousins Arab parents from Egypt with family history of unexplained deaths of 3 siblings during the neonatal period. He presented with developmental regression since the age of 2 years resulting in marked muscle weakness with no head support, generalized spasticity more prominent in lower limbs, and aphonia, but intact hearing. The child had excessive urinary excretion of 3-methylglutaconic acid, and his brain magnetic resonance imaging showed characteristic basal ganglia affection with "Putaminal eye sign." Whole-exome sequencing demonstrated a likely pathogenic homozygous c.1404-2A>G variant in SERAC1 gene. This report expands the epidemiological and phenotypic spectrum of MEGDEL syndrome by reporting the first case from the Egyptian population who had relatively delayed onset and no evident hepatopathy or deafness.

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.