pediatric development

BACKGROUND: The gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies. CASE PRESENTATION: We collected peripheral blood samples from the affected children and parents and extracted genomic DNA...

BACKGROUND: Some children and adolescents can develop persistent pain and instability following inversion injuries of the ankle. In these cases, imaging exams could reveal small bone fragments distal to the lateral malleolus. For these patients, regular conservative treatment may not be successful, requiring additional management, which can include surgical treatment. This study aimed to present the short-to-midterm functional and clinical outcomes of a series of 12 pediatric and adolescent patients who underwent ligament repair surgery due to chronic instability associated with the presence of osseous components in the lateral ligaments...

BACKGROUND: Fibrous hamartoma of infancy (FHI) is a rare, benign, soft tissue mass that may be locally infiltrative. Primary excision is the mainstay of treatment; however, given the infiltrative nature, margin negativity can be difficult to achieve. The management of residual disease in the setting of positive margins after primary excision is not well described. METHODS: All patients undergoing FHI excision from 2012 to 2022 were included. Demographics, operative data, margin status, recurrence, and post-operative follow-up data were obtained via retrospective chart review...

BACKGROUND: In Germany, no consented quality indicator set (QI set) exists to date that can be used to assess the quality of pediatric care. Therefore, the aim of the project "Assessment of the quality of routine ambulatory health care for common disorders in children and adolescents" (QualiPäd) funded by the Innovation Committee of the Federal Joint Committee (grant no.: 01VSF19035) was to develop a QI set for the diseases asthma, atopic eczema, otitis media, tonsillitis, attention-deficit hyperactivity disorder (ADHD), depression and conduct disorder...

BACKGROUND: The decision regarding sex rearing in patients with Disorders of Sex Development (DSD) is heavily connected to the shared decision-making model within multidisciplinary team. Some of these patients might develop gender dysphoria, when they become adults. We have aimed to evaluate the long-term outcomes of patients with XY DSD who underwent female gender assignment at our center. METHODS: We have conducted a retrospective study of all 46, XY DSD patients who underwent female assignment in our institution over the last 30 years...

INTRODUCTION: Sinusoidal obstructive syndrome (SOS), or veno-occlusive disease (VOD), of the liver has been recognized as a complex, life-threatening complication in the post-hematopoietic stem cell transplant (HSCT) setting. The diagnostic criteria for SOS have evolved over the last several decades with a greater understanding of the underlying pathophysiology, with two recent diagnostic criteria introduced in 2018 (EBMT criteria) and 2020 (Cairo criteria). OBJECTIVE: We sought out to evaluate the performance characteristics in diagnosing and grading SOS in pediatric patients of the four different diagnostic criteria (Baltimore, Modified Seattle, EBMT, and Cairo) and severity grading systems (defined by the EBMT and Cairo criteria)...

INTRODUCTION: Cerebral palsy (CP) is the most common cause of pediatric motor disability. While epidemiological data are widespread in high-income countries, corresponding data in low-income countries in Sub-Saharan Africa are still rare. This study aimed to estimate the prevalence of CP in Northern Benin, a French-speaking low-income country in Sub-Saharan Africa. METHODS: This study was a community-based door-to-door study involving children younger than 18 years old, in Parakou, a semi-urban city in Benin...

PURPOSE: The purpose of this study was to investigate the relations between functional hearing, language, social, bilateral coordination and manual dexterity skills in children with early cochlear implants (CIs). METHODS: Thirty children with CIs were included in this study. The manual dexterity and bilateral coordination development of the participants were evaluated with Manual Dexterity and Bilateral Coordination subtests of Bruininks-Oseretsky Motor Proficiency-2 (BOT-2)...

BACKGROUND AND OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disorder that primarily affects the joints in children. Notably, it is known to co-occur with uveitis. Adalimumab, a monoclonal anti-TNF antibody, is effective in treating both conditions. A deeper understanding of the pharmacokinetics (PK) of adalimumab in JIA is crucial to advance in more personalized treatment approaches. The objective of this study is to evaluate the population PK profile of adalimumab in JIA and to explain causes for its variability...

INTRODUCTION AND HISTORY: In Mongolia, pediatric anesthesia has advanced during the past 25 years through expanded, standardized education programs and international collaboration. Pediatric anesthesia is a recognized specialty, covering all surgical services, including cardiac and transplant, using physicians and nurses. TRAINING: The pediatric anesthesia fellowship is 6 months after 2 years of residency; pediatric nurse anesthesia training is 6 months...

OBJECTIVES: To develop an equation for defining a low skeletal muscle mass (SMM) in children and to investigate risk factors and outcomes associated with low SMM in critically ill pediatric patients. DESIGN: Single-center retrospective pediatric cohorts, 2011-2018. SETTING: Tertiary Emergency and Critical Care Center of Kyushu University Hospital in Japan. PATIENTS: We studied two cohorts of pediatric patients 1-15 years old who underwent abdominal CT at the level of the third lumbar vertebra (L3)...

Adolescents face issues regarding physical health, mental health, sexual health, drug and alcohol problems, stress, and peer pressure. Little is known about adolescents' help-seeking behaviours in relation to health concerns. The general practitioner (GP) is usually the first point of contact for adolescents. The aim of this systematic review was to identify, describe, and summarize evidence on barriers and enablers experienced by adolescents when accessing GP-led primary care services. Systematic searches using four electronic databases (PsycINFO, MEDLINE, CINAHL, and SocINDEX) were conducted and the quality of the included studies was appraised...

BACKGROUND: Bronchopulmonary Dysplasia (BPD) has a multifactorial etiology. Vitamin E and vitamin D play an important role in lung development and can potentially be beneficial in the prevention of BPD. OBJECTIVE: The study aimed to compare the risk of BPD occurrence in preterm neonates supplemented with vitamin D or E versus those who did not get supplementation. METHODS: The literature search was conducted for this systematic review by searching the PubMed, Scopus, and Web of Science databases up to December 2022...

This case report provides insights into the physiotherapy management of a 12-year-old male with Duchenne muscular dystrophy (DMD). DMD is a devastating genetic disorder characterized by progressive muscle degeneration and weakness. Skeletal muscle degeneration is induced by a genetic disorder. It is a common X-linked condition that causes hypertrophy of the calves and proximal muscular weakness in children. It frequently results in early mortality, wheelchair confinement, and delays in motor development...

Myoclonus-dystonia syndrome (MDS) presents with both rapid myoclonus and dystonia, which is caused by mutations in the sarcoglycan (SGCE) gene. However, its complications and management remain unclear. Here, we report a case involving a girl with MDS due to a 7q21.13-q21.3 microdeletion complicated by early-onset multiple cerebral cavernous malformations (CCMs). The patient presented with myoclonus and dystonia at two and eight years of age, respectively. In addition to MDS, the patient developed growth hormone (GH) deficiency and mild intellectual disability...

Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system. It has a wide range of manifestations and commonly affects the visual system. Many patients with MS report decreased vision, diplopia, nystagmus, and abnormal ocular motility. Nevertheless, bilateral horizontal gaze palsies are exceptionally rarely seen. We present the case of a 24-year-old female who came to our pediatric ophthalmology clinic complaining of bilateral horizontal gaze palsy, photophobia, and eye pain for 2 days...

Pediatric pulmonology fellowship training programs are required by the Accreditation Council for Graduate Medical Education to report Pediatric Subspecialty Milestones biannually to track fellow progress. However, several issues, such as lack of subspecialty-specific context and ambiguous language, have raised concerns about their validity and applicability to use for fellow assessment and curriculum development. In this Perspective, we briefly share the process of the Pediatric Pulmonology Milestones 2.0 Work Group in creating new specialty-specific Milestones and tailoring information on the Harmonized Milestones to pediatric pulmonologists, with the goal of improving the Milestones' utility for stakeholders, including pulmonology fellows, faculty, program directors, and accrediting bodies...

BACKGROUND: Currently, the Accreditation Council of Graduate Medical Education requires time-based pediatric experiences for emergency medicine (EM) residents in both pediatric emergency medicine (PEM) and critical care settings. The American Board of Emergency Medicine has published the Model of the Clinical Practice of Emergency Medicine, which is a list of content an EM resident should learn. However, this list is large and without prioritization and therefore can be difficult to incorporate into time-limited curricula...

While ulceration is one of the most common infantile hemangioma (IH) complications, severe bleeding is a rare consequence, with a paucity of patients reported. We report a 5-month-old girl with a very large, mixed, partial segmental IH of the upper chest wall who, despite medical intervention, developed severe ulceration and multiple episodes of life-threatening bleeding that ultimately led to hemorrhagic shock. Experience in our patient and a review of six previous reports shows that severe bleeding is a risk when ulceration extends directly into an arterial feeding vessel that is often visible clinically...

BACKGROUND: Bites caused by European vipers are rare medical emergencies but can occasionally cause life-threatening complications. Viper venom causes local symptoms, which can be accompanied by systemic manifestations in severe cases. The local effects of snakebites include edema and, more rarely, necrosis and compartment syndrome. The consequences of envenomation are often more pronounced in children due to their smaller body size. CASE PRESENTATION: We present the case of a 6-year-old girl who experienced multiple viper bites in the lower limb in northwest Italy...