Clinical Pediatrics最新文献

Chromosomal rearrangements are structural anomalies that affect chromosomal architecture and can impact gene expression, genomic imprinting, or even generate de novo gene fusions, as seen in hematological chromosomal aberrations. Chromosomal rearrangements can be associated with syndromes causing neurodevelopmental delay, autism spectrum disorder, and variable dysmorphic features. This article presents the clinical and molecular characteristics of a 2-year-old male child with neurodevelopmental delay who was diagnosed with a chromosomal rearrangement due to a 15q24 duplication (dup15q24). The 15q24 locus presents controversy between the phenotype associated with duplication and deletion, thus posing a challenge in differential diagnosis for both. The phenotypes of autism spectrum disorder and pediatric patients with language delay should be evaluated by a multidisciplinary team comprising genetics, pediatrics, and pediatric neurology to shorten the diagnostic odyssey for patients with rare diseases and to impact the quality of life of the patient and their family.

Little is known about infectious complications of lumbar puncture (LP) in children. We reviewed records of children with bacterial meningitis, intraspinal abscess, and vertebral osteomyelitis over a 3-year period to identify infections following LP. Four children with bacterial meningitis and 1 child with vertebral osteomyelitis were identified and their clinical presentations were described. These cases were scored by infectious disease experts, using a Likert scale, for the possibility of iatrogenic causation; these scores were variable, reflecting uncertainty. The bacterial meningitis cases had repeat LPs, and the latter cerebrospinal fluid analyses were diagnostic of bacterial meningitis; the interval between the initial "index" LP (I-LP) and symptom onset was 8 to 10 hours in most cases. Pediatricians should be aware of this possibility, and have a low threshold to repeat LP if there is a clinical change after the I-LP that could be consistent with meningitis.

Celiac disease (CeD) and eosinophilic esophagitis (EoE) are immune-mediated disorders that can occur in the same patient. A retrospective study at a tertiary care hospital was conducted to determine the prevalence of EoE in a pediatric population with CeD and to compare characteristics of patients with both diseases to patients with CeD-only. Among the 148 patients with CeD identified in the study, 11 patients had both CeD and EoE (7.4%). Patients with both CeD and EoE had a higher absolute eosinophil count (per μL) at diagnosis compared to patients with CeD-only (454.1 ± 122.7 vs 231.9 ± 19.4, P = .003). In conclusion, there was a higher proportion of EoE in patients with CeD than would be expected in the general population, suggesting a potential pathophysiological overlap between the 2 diseases. An elevated peripheral absolute eosinophil count may help predict which patients with CeD may additionally have EoE.

To determine the percentage of female adolescent patients (13-26 years old) who had HIV testing ordered within 90 days of incident sexually transmitted infection (STI) diagnosis during an outpatient clinic visit. This was a retrospective chart review study evaluating 830 visits among 589 female patients 13 to 26 years who had an incident STI diagnosed in outpatient Adolescent Medicine or Pediatric Practices in an urban, nonprofit, academic, free-standing children's hospital at the main campus and a community site in the Northeast United States. Odds of HIV screening was greater at the community-based adolescent medicine practice (odds ratio [OR] = 3.17; 95% confidence interval [CI]: [1.92, 5.24]) and when seen by an adolescent medicine provider (OR = 1.44; 95% CI: [1.02, 2.03]). Only 33.5% (n = 283) of 844 clinical encounters had HIV screening obtained within 90 days of incident STI diagnosis. Overall, HIV screening rates within 90 days of STI diagnosis was low, and there is much room for improvement.