Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.

Background: Genetic disorders account for a large percentage of admissions and outpatient visits to children's hospitals around the world. Clinical exome sequencing (CES) is a valuable diagnostic tool in the workup of these disorders; however, it is not routinely requested by general pediatricians. This may represent a missed opportunity to increase patient access to this powerful diagnostic tool. In our institution, general pediatricians can directly order CES. In this context, this study aims to evaluate the appropriateness of CES and its clinical utility when ordered by general pediatricians. Methods: We retrospectively reviewed all CES tests ordered by general pediatricians in our institution between 2019 and 2023 and recorded their indications and results. General pediatricians were interviewed to evaluate how CES impacted the domains of clinical utility by assessing changes in management, communication, subsequent testing, and counseling. In addition, feedback was obtained, and barriers faced by general pediatricians to order CES were assessed. Results: The study cohort (n = 30) included children from the inpatient (60%) and outpatient (40%) departments. A positive finding (a pathogenic or likely pathogenic variant that explains the phenotype) was observed in 11 of 30 cases (37%), while 3 (10%) and 16 (53%) received ambiguous (variant of uncertain significance) and negative results, respectively. The indication was deemed appropriate in all 30 cases (100%). Clinical utility was reported in all 11 positive cases (100%). Reproductive counseling is a notable utility in this highly consanguineous population, as all variants identified, in the 11 positive cases, were autosomal recessive. Conclusion: We show that CES ordered by general pediatricians is appropriately indicated and provides a diagnostic yield comparable to that requested by specialists. In addition, we note the high clinical utility of positive results as judged by the ordering pediatricians. The findings of this study can empower general pediatricians to advocate for expanded CES adoption to improve patient access and shorten their diagnostic odyssey.

Pediatric Residents Knowledge of Penicillin Allergy.

Penicillin allergy knowledge has not been evaluated specifically in the pediatric resident population. An anonymous electronic survey was distributed to all the pediatric residents in a single residency program to ascertain knowledge of penicillin allergies and allergy history taking skills. Responses among each resident class were compared using the Fisher exact test, 2-tailed. A total of 46 (52%) of 88 pediatric residents completed the survey. Only 63% reported to have had prior penicillin allergy education. All residents incorrectly identified low-risk symptoms as high-risk symptoms. The knowledge of penicillin allergy was poor across all training levels with no improvement over the duration of training. There is large support in the literature for de-labeling penicillin allergy in patients. Pediatric residents evaluate patients in childhood when most of the allergy labeling occurs. We need to consider strategies for incorporating penicillin allergy education in pediatric residency training.

Virtual Nutrition Counseling in Pediatric Primary Care: An Integrated Approach to the Prevention and Management of Pediatric Obesity.

Given the rising prevalence of pediatric obesity, new approaches to the delivery of targeted nutrition counseling to not only prevent but also treat pediatric obesity are needed. The integration of a dietitian virtually was a successful quality improvement measure in this academic pediatric primary care clinic. The virtual dietitian provided age-appropriate nutrition counseling at well-child visits from 9 months to 6 years of age. Dietary counseling was also provided for children with overweight and obesity regardless of age. Vegetable, fruit, snack, and dairy intake was assessed in children who received counseling versus those who had traditional well childcare. Improved dairy habits were noted in the counseling cohort. A decrease in body mass index was not demonstrated in the patients with obesity or overweight; however, patient and provider satisfaction was quite high with this novel quality improvement measure. Virtual nutrition counseling can be easily integrated to facilitate a comprehensive pediatric medical home.

Blood, Sweat, and Tonsils: Bleeding After Abscess Tonsillectomy for Quinsy-A Meta-Analysis.

OBJECTIVE: Abscess tonsillectomy is performed during an active episode of quinsy. Apprehensions regarding an elevated bleeding risk have hindered its widespread acceptance. This study aims to assess the prevalence of post-tonsillectomy bleeding (PTB) associated with abscess tonsillectomy. DATA SOURCES: A search was performed on August 27, 2023 in Medline, Embase, PubMed, Cochrane CENTRAL, and Web of Science databases. REVIEW METHODS: The systematic review was conducted in adherence to the PRISMA guidelines. Pooled PTB rate was determined using a meta-analysis of proportions. The JBI tool was used to assess the quality of the included studies. RESULTS: Of the 525 search records, 18 studies met the eligibility criteria for final analysis. These comprised of retrospective single-center analyses. The pooled prevalence of PTB was 6.65% (95% C.I. 4.01-9.81), and the return-to-theatre rate was 2.35% (95% C.I. 1.48-3.37). There was no difference in PTB rate between unilateral and bilateral tonsillectomy. However, the bipolar technique was associated with a higher PTB rate compared to cold steel dissection. The overall quality of the body of evidence was moderate. CONCLUSION: Our study highlights the complications associated with abscess tonsillectomy. These findings contribute valuable insights into this potential treatment option for quinsy. LEVEL OF EVIDENCE: N/A Laryngoscope, 2024.

A Case Series of Infants 60 Days of Age or Younger With Human Parechovirus (PeV) Meningitis From a New York City Pediatric Emergency Department.

Human parechovirus is a relatively lesser known virus that has recently spread across the United States, primarily affecting newborns and young infants. A particular strain of parechovirus, PeV-A3, has been found in the cerebrospinal fluid studies of many young patients in the spring and summer of 2022; however, short- and long-term neurologic effects of this virus are often not well known. We present a case series of 4 infants, 60 days of age or younger, found to have human parechovirus meningitis. Our retrospective study found that none of the 4 infants presented with any significant neurological findings, nor did they develop any specific neurologic signs or symptoms during their hospitalizations. Patients should continue to be monitored for long-term neurological and neurodevelopmental sequelae.

Shifting Trends in Diagnosis of Asthma, Bronchiolitis, and Viral Pneumonia in Young Children.

Over the last decade, there have been widespread efforts to reduce non-evidence-based therapies for viral bronchiolitis. We question whether this change in practice has inadvertently impacted the diagnosis and management of other pediatric lower-respiratory-tract illnesses. We used the Pediatric Health Information System (PHIS) and logistic regression to describe trends in relative diagnosis frequency of bronchiolitis, viral pneumonia, and reactive airway disease (RAD)/asthma as well as systemic corticosteroid use among children of the age range 1 to 4 years over a 10-year period. Among 169,207 children, the relative frequency of asthma/RAD diagnoses declined over a 10-year period, while bronchiolitis and viral pneumonia diagnoses increased among children of the age range 1 to 3 years and 2 to 4 years, respectively. Frequency of systemic corticosteroid use declined. We question whether the observed shift in diagnosis from asthma/RAD to bronchiolitis or viral pneumonia is reflective of true disease pathophysiology or if it represents an unintended consequence of campaigns surrounding bronchiolitis.

Marching Band Injuries in Children Presenting to Emergency Departments in the United States, 2012-2021: A Trebling Tale.

Marching band is both a sport and a performance art. Organized athletics like American football, soccer, and cheerleading all have established epidemiologic trends of injury, including stigmata from head trauma. Despite the potential for mild to severe injury, there is a paucity of data on marching band-related morbidity. We examined the National Electronic Injury Surveillance System from 2012 to 2021 to describe demographic information and injury patterns. There were an estimated 20 335 marching band injuries (95% confidence interval: 12 892-27 777). The majority of injuries occurred in females (70%), and those aged 14 to 18 years (85%). Fifty percent of all injuries occurred in the lower extremity, and soft tissue injuries were the most frequently observed diagnosis (49%). Mild traumatic brain injury accounted for 6% of all injuries. Of marching band injury, 98% did not require escalation of care. Based on these findings, we suggest targeted public health intervention by sports medicine teams.

Pediatric Oncology and Obesity: An Introduction for General Pediatricians.

For pediatric patients with cancer, a healthy lifestyle is important for treatment outcomes and beyond. General pediatricians play a major role in the care of these patients, particularly given the improved rates of survival. Pediatric obesity has many negative consequences, but it is an area where primary care providers can make an impact and provide support to childhood cancer survivors. To provide the best quality of care for this population, there must be collaboration between primary care and oncology providers. Additionally, general practioners should feel empowered to offer standard nutrition and physical activity recommendations to all childhood cancer survivors. For pediatric patients who carry a cancer diagnosis, cure is no longer the only goal. Pediatric providers across specialties need to work as a team to improve long-term quality of life for these patients, starting with modifiable healthy habits.

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital.

Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.

Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review.

There is still no evidence-based guideline and consensus on the treatment Sydenham's Chorea (SC). The first-line medication preference of specialists depends on personal experience and is variable. In this study, we evaluate the treatment results of pediatric patients who were treated with valproic acid (VPA). The medical records of 17 patients diagnosed with SC were reviewed retrospectively. The mean time to clinical improvement was found as approximately 5 days, the mean duration of remission as 13.60 ± 3.94 weeks and the mean duration of medication use was found as 17.96 ± 3.81 weeks. No side effects were observed in any of the patients and relapse occurred in 2 patients. A positive correlation was found between the initial C-reactive protein (CRP) level and the duration of medication use. Until evidence-based guidelines are established, VPA can be used as an effective, safe, and inexpensive first-line treatment option, especially in pediatric patients.

The "Electronic Pediatrician (EPed®)" - A clinically tested prototype software for computer-assisted pathophysiologic diagnosis and treatment of ill children.

BACKGROUND: Knowledge-based systems (KBS) are software applications based on a knowledge base and an inference engine. Various experimental KBS for computer-assisted medical diagnosis (CAMD) and treatment were started to be used since 70 s (VisualDx, GIDEON, DXPlain, CADUCEUS, Internist-I, Mycin etc). OBJECTIVES: This article briefly presents and tests the "Electronic Pediatrician (EPed)", a prototype medical user-interface-based stand-alone KBS software created by the author (in Romanian language) that offers both a computer-assisted pathophysiologic diagnosis and treatment of ill children. EPed currently covers the most frequent (and mainly infectious) respiratory, digestive, renal and central nervous system pediatric diseases treated in the Department of Pediatric Infectious Diseases (DPID) of the County Emergency Hospital of Târgoviște town (Dâmbovița County, Romania). METHODS: EPed uses a new type of pathophysiologically-based diagnosis algorithm, which combines the relative incidences of diseases and the degree of covering any clinical picture of any patient. EPed was tested by a retrospective study in which the author has chosen 34 clinical child cases diagnosed and treated in DPID in the period of pandemics. The diagnoses predicted by EPed for each tested patient in part was compared to the diagnoses established by the clinician for each patient, so that to test the diagnostic accuracy of EPed. RESULTS: The real diagnoses of the 34 children tested were found to occupy an average list-index of 12 (varying from 1 to 57) in the lists of EPed-predicted diagnoses for each case in part (based on the clinical and paraclinical signs inputs), which is considered an acceptable result for a demo version. CONCLUSIONS: The diagnostic accuracy of EPed was acceptable and is perfectible in the future by using other formulas of scoring which combine the relative incidences of diseases and the degree of covering the clinical picture of a patient. EPed is the first pathophysiologically-based KBS focused on general pediatrics (mainly on pediatric infectious diseases) written in Romanian.

A Rare Isolated Kidney Cyst: Hydatid Cyst.

Hydatid disease is a parasitic disease caused by Echinococcus granulosus or Echinococcus multilocularis. It is still a serious public health problem in endemic regions such as the Mediterranean basin. Since the complaints caused by the cysts are non-specific and routine laboratory tests do not always yield positive results, diagnosis may be difficult. While liver involvement is present in 70% of cases, larvae escaping from the filtration of the liver cause pulmonary disease in 25% of cases. Although the prevalence of kidney involvement in all hydatid cysts is approximately 2-4%, and isolated kidney involvement is extremely rare at 1.9%. In this case report, we present an extremely rare pediatric case of isolated renal hydatid cyst, the diagnosis of which was somewhat delayed.

Meta-analysis on the Effectiveness of ECG Screening for Conditions Related to Sudden Cardiac Death in Young Athletes.

Controversy exists over the use of electrocardiograms (ECGs) in sports pre-participation screening. We performed a meta-analysis comparing the effectiveness of history and physical examination (H&P) with ECG at detecting both cardiac disease and sudden cardiac death-associated conditions (SCD-AC). Pre-participation studies published from 2015 to 2020 with athletes 10 to 35 years old were included. This yielded 28 011 athletes screened and 124 cardiac diagnoses, 103 of which were SCD-AC. A meta-analysis of log odds ratios (ORs) was conducted using a random-effects model. The ORs for the association between H&P and detecting both cardiac disease and SCD-AC were not statistically significant (OR = 3.4, P = .076; OR = 2.9, P = .078). The ORs for the association between ECG and detecting both cardiac disease and SCD-AC were statistically significant (60, P < .001; 148, P < .0001). In conclusion, the odds of detecting both cardiac disease and conditions related to SCD with ECG are greater than with H&P during sports pre-participation screening.

Comparison of Symptom Duration Between Children With SARS-CoV-2 and Peers With Other Viral Illnesses During the COVID-19 Pandemic.

Some children and young people (CYP) with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) experience persistent symptoms, commonly called "long COVID." It remains unclear whether symptoms of SARS-CoV-2 persist longer than those of other respiratory viruses, particularly in young children. This cross-sectional study involved 372 CYP (0-15 years) tested for SARS-CoV-2. Character and duration of symptoms (cough, runny nose, sore throat, rash, diarrhea, vomiting, sore muscles, fatigue, fever, loss of smell) were compared between CYP with a positive test (n = 100) and those with a negative test (n = 272), while controlling for medical/demographic covariates. The average duration of symptoms for CYP with a positive SARS-CoV-2 test (8.5 ± 10 days) did not differ from that of CYP with a negative test (7.2 ± 5 days, P = .71, d = 0.046). A positive SARS-CoV-2 test did not increase the risk (36/372, 10%) of symptoms persisting for ≥3 weeks (odds ratio = 0.96, 95% confidence interval = 0.45-2.0). These results suggest CYP with non-SARS-CoV-2 infections experience a similar duration of symptoms as peers with SARS-CoV-2 infection.

"Why Do They Want to Know?": A Qualitative Assessment of Caregiver Perspectives on Social Drivers of Health Screening in Pediatric Primary Care.

OBJECTIVE: Despite strong evidence that social factors have a large influence on child health, systematic screening for social needs is not performed universally in pediatric primary care. This is due to multiple barriers, including concerns about acceptability to families. This study sought to assess family acceptability of social needs screening in pediatric primary care. METHODS: Eight semi-structured focus groups were performed with English and Spanish-speaking caregivers of pediatric patients from a diverse academic medical center. Focus groups explored the acceptability of social domains including housing, education, finances, food access, and safety. Focus group transcripts were qualitatively analyzed to identify themes. RESULTS: Four salient themes emerged: 1) the acceptability of social determinants of health screening questions was tied to participants' understanding of the connection between the topic and child health, 2) families preferred a warm handoff to community services, 3) families feared child protective services intervention as a result of sharing unmet social needs, and 4) positive provider rapport was an important factor in choosing to share social needs. CONCLUSIONS: Pediatric primary care providers should feel comfortable implementing social needs screening when they can clearly explain the connection to child health. They should become knowledgeable about organizations and partners within their communities and feel empowered to connect patients to these resources.

Autism Spectrum Disorder: The New Asthma?

While autism spectrum disorder (ASD) has traditionally been diagnosed in specialty care, rising prevalence rates have strained specialist capacity and created significant diagnostic bottlenecks. With long wait times for specialist evaluations, pediatricians are increasingly being asked to play a greater role in identifying, diagnosing, and managing ASD within the medical home. In this commentary we draw parallels between the challenges pediatricians faced two decades ago learning how to manage pediatric asthma in the medical home, to those faced today in the field of primary care ASD management. Reflecting on the lessons learnt in primary care asthma management may help us construct a roadmap towards a higher and more consistent standard of ASD primary care for patients and their families.

Practice of general pediatrics in Saudi Arabia: current status, challenges, and opportunities.

BACKGROUND: In Saudi Arabia, general pediatrics serves children until they are 14 years old. It has contributed to improving the health of Saudi children. METHOD: This study adopted a qualitative method and recruited pediatric physicians to investigate status, successes, challenges, and opportunities. Later, data were analyzed using thematic analysis and hermeneutic phenomenology. RESULTS: This study attracted 13 pediatric physicians for interviews. All participants appreciated the role of general pediatricians, but the trainees had a negative attitude regarding the general pediatrics specialty. They all agreed on providing primary care for all children and recommended that their first visit should occur earlier. Shortage of pediatricians, lack of community pediatricians, busy clinics, limited Arabic resources, and poor communication skills are significant barriers to children receiving adequate care. The majority of pediatricians favor extending the pediatric age to 18 years old. One pediatrician stated, "Youths between ages 14-18 years are lost, adults and we refuse to care for them…" Additionally, pediatricians have concerns about managing developmental delays and behavioral issues. They believe the current pediatric residency provides many opportunities for a brighter future. CONCLUSION: General pediatrics is well established in Saudi Arabia. To continue thriving, we need to address some challenges that pediatricians face and attract more residency graduates. The current pediatric residency programs can provide opportunities to address deficit areas.

A systematic review of outpatient billing practices.

Objectives: Healthcare coding and billing are an important aspect of practice management that directly impacts the financial stability of a health care practice. To financially sustain or grow a medical practice, it is imperative that resident and faculty physicians have knowledge and skills for accurate billing in every patient encounter. Methods: A systematic review was conducted to identify recently published studies that report on improvements in medical coding and billing accuracy, clinical documentation, and reimbursement rate. A search of three databases yielded a total of 5754 records. After screening, 41 records were sought for retrieval and a total of 18 records were obtained for review. Results: Following a thorough review of literature, the most common reasons for inaccurate or inappropriate billing were a lack of formal education within residency curriculum, inadequate clinical documentation supporting level of billing, and lack of a feedback system aimed to correct billing errors. Conclusion: A formal education curriculum implemented in training could enhance knowledge and application of accurate billing and coding and further benefit practice longevity. The purpose of this systematic review is to apply knowledge gained to the development and implementation of a quality improvement study intended to improve accuracy of coding and billing within an academic pediatric outpatient center.

Salbutamol-Induced QT Interval Prolongation in a Two-Year-Old Patient.

Salbutamol-induced QT interval prolongation is a relatively rare adverse effect of beta2-agonists. We report a case of a two-year-old female patient with no known past medical history, brought by her parents to the ED 30 minutes after ingesting a total dose of 97 mg of salbutamol solution. ECG was done for the patient when she arrived and showed sinus tachycardia with prolonged QTc (509 ms) and normal QRS complex. The patient was admitted to the Pediatric Intensive Care Unit (PICU) with persistent tachycardia and tachypnea in the initial reassessment. ECG was repeated with normal QT interval after IV Mg sulfate. The patient was observed in PICU for 12 hours with serial ECG and venous blood gas (VBG). IV potassium chloride (KCL) infusion started, and serial VBG showed normal potassium and lactate. The patient was doing well in the next six hours, with normal serial ECG, labs, and vital signs. In conclusion, salbutamol-induced QT prolongation has infrequently been reported in the literature. Although inhaled salbutamol is commonly used in clinical practice, physicians have limited experience with the severe features of its toxicity. Salbutamol is known to cause minimal side effects, which may be under-recognized and progress to serious manifestations such as hypokalemia, QT prolongation, and sudden cardiac death.