Blount disease

INTRODUCTION: A cross-sectional study retrospectively evaluating the perceived usefulness of attending a multi-disciplinary, roundtable, educational prenatal clinic for mothers expecting children with myelomeningocele is presented. METHODS: Mothers who currently have children with SB completed a survey which evaluated their overall preparedness, spina bifida education, delivery plans, surgical expectations, and expectations in terms of quality of life and development...

Endoscopic third ventriculostomy (ETV) is a well-established surgical technique for treating hydrocephalus. Many providers have transitioned to utilizing the specialized Neuroballoon for the stoma dilation in ETV; however, these devices are intermittently unavailable during supply chain shortages. We present the experience of employing cardiac angioplasty and neurovascular balloons as substitutes for the Neuroballoon in 3 patients. The scepter balloon (Microvention), priced at $1800 compared to the standard $300 Neuroballoon (Integra), proved effective, but its pliability presented technical challenges...

PURPOSE: The US Centers for Disease Control and Prevention (CDC) has implemented the Stopping Elderly Accidents, Deaths, and Injuries (STEADI) initiative. This initiative provides an algorithm for fall risk screening. However, the algorithm has the potential to overcategorize individuals as high risk for falling upon initial screening, which may burden clinicians with the task of recategorizing individuals after follow-up testing. Therefore, this study aimed to compare the accuracy, sensitivity, and specificity of fall risk appraisal between the STEADI, Short Fall-Efficacy Scale International (FES-I), and portable balance system (BTrackS) assessments in community-dwelling older adults...

INTRODUCTION: Pediatric non-galenic pial arteriovenous fistulas (pAVFs) are rare vascular malformations that are characterized by a pial arterial-venous connection without an intervening capillary bed. Outcomes and treatment strategies for pAVFs are highly individualized, owing to the rarity of the disease and lack of large-scale data guiding optimal treatment approaches. METHODS: We performed a systematic review of pediatric patients (< 18 years at diagnosis) diagnosed with a pAVF by digital subtraction angiogram (DSA)...

Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.) that can present across the age spectrum, highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed...

Severe knee malalignment in children usually needs surgery with different options available in surgical approaches. The aim of this study was to report the results of the surgical correction of severe knee malalignment in children treated with femoral and tibial osteotomy, temporarily fixed with percutaneous Kirschner wires, in a low- and middle-income country (LMIC), with limited medical resources.

Since 2018, a neurosurgery delegation has been actively engaged and consistently present at the World Health Assembly. Recognizing the growing impact of neurosurgical diseases, the neurosurgery delegation participated in the 76th World Health Assembly in May 2023, advocating for timely, safe, and affordable global neurosurgical care. The delegation focused on forging new collaborations, strengthening the World Health Organization-World Federation of Neurosurgical Societies official relations, and actively supporting resolutions that impact the neurosurgical patient...

BACKGROUND: Blount disease can occur at any time during the growth process, primarily with a bimodal distribution in children younger than 4 years old and adolescents. The disease process most commonly presents in Black adolescents, with disease severity positively correlated with obesity. Given the known associations among race, obesity, and socioeconomic status, we investigated the relationship between the degree of social deprivation and severity of lower extremity deformities among a community-based cohort with Blount disease...

This study aimed to evaluate the clinical and radiological outcomes of surgical intervention involving acute medial hemi-plateau elevation and metaphyseal osteotomy with internal fixation and growth modulation for late-stages Blount's disease. A retrospective analysis was conducted on consecutive patients with late-stages infantile tibia vara between 2014 and 2020. Inclusion criteria consisted of children aged 8 years and older with Blount's disease with Langenskiold stage IV, V or VI, tibia vara more than 30*, medial plateau depression angle (MPDA) exceeding 25* and knee instability with a minimum follow-up period of 3 years...

PURPOSE: Epilepsy surgery for pediatric drug-resistant epilepsy has been shown to improve seizure control, enhance patient and family QoL, and reduce mortality. However, diagnostic tools and surgical capacity are less accessible worldwide. The International Society Pediatric Neurosurgery (ISPN) has established a Pediatric Epilepsy Surgery Interest Group (PESIG), aiming to enhance global collaboration in research and educational aspects. The goals of this manuscript are to introduce PESIG and analyze geographical differences of epilepsy surgery and technology availability...

Urban environments are afflicted by mixtures of anthropogenic volatile organic compounds (VOCs). VOC sources that drive human exposure include vehicle exhaust, industrial emissions, and oil spillage. The highly volatile VOC benzene has been linked to adverse health outcomes. However, few studies have focused on the later-in-life effects of low-level benzene exposure during the susceptible window of early development. Transcriptomic responses during embryogenesis have potential long-term consequences at levels equal to or lower than 1 ppm, therefore justifying the analysis of adult zebrafish that were exposed during early development...

BACKGROUND: Blount's disease is a growth disorder of the proximal tibia that causes progressive genu varum in children. Surgical treatment is recommended if the deformity worsens, but which intervention is best remains controversial. This study aims to identify factors influencing outcomes and determine the most effective surgical approach. METHODS: A systematic review was conducted of studies published before January 2022. RESULTS: In total, 63 retrospective studies with CEBM IIIb/IV levels were included (1672 knees in 1234 patients)...

Ataxin-3 (Atxn3) is a deubiquitinase with a polyglutamine (polyQ) repeat tract whose abnormal expansion causes the neurodegenerative disease, Spinocerebellar Ataxia Type 3 (SCA3; also known as Machado-Joseph Disease). The ubiquitin chain cleavage properties of Atxn3 are enhanced when the enzyme is itself ubiquitinated at lysine (K) at position 117: in vitro, K117-ubiqutinated Atxn3 cleaves poly-ubiquitin markedly more rapidly compared to its unmodified counterpart. How polyQ expansion causes SCA3 remains unclear...

BACKGROUND: Dural arteriovenous fistulas (dAVF) are arteriovenous shunts in communication with the dural vasculature in the brain or spine. Apart from single-center series, risk factors and treatment outcomes for pediatric dAVFs are largely undescribed. METHODS: We performed a systematic literature review of pediatric (< 18 years at diagnosis) intracranial and spinal dAVF according to PRISMA guidelines. We queried PubMed, CINAHL, SCOPUS, and Embase databases without time/date restriction...

Adenylate cyclase 3 (ADCY3) gene alterations have been found to be associated with obesity. However, few patients with homozygous mutations have been reported so far, and the follow-up procedure and treatment options have not been clarified. A 10-month-old female presented with increased appetite and weight gain. She was born from a consanguineous marriage. Weight, height, head circumference measurements and standard deviation scores (SDS) were 19 kg (+6.98 SDS), 82 cm (+3.53 SDS), and 49 cm (+3.07 SDS), respectively...

INTRODUCTION: Our understanding of the efficacy of guided growth surgery with tension-band plating (TBP) in early-onset Blount disease is evolving. Preliminary work has demonstrated that TBP can normalize the mechanical axis, yet its effect on Langenskiöld stage (LS) has not previously been reported. The primary outcome of this study was improvement in LS after TBP. Secondary outcomes were improvement in LS at most recent follow-up and improvement in mechanical axis deviation (MAD), mechanical medial proximal tibial angle, and mechanical lateral distal femoral angle at treatment completion and most recent follow-up...

In 2019, nearly 3000 U.S. residents developed severe lung injury associated with recent use of e-cigarette or vaping products. The Centers for Disease Control and Prevention (CDC) responded to the outbreak, which was formally defined as e-cigarette, or vaping, product use-associated lung injury (EVALI). CDC Laboratory rapidly developed assays to analyze potentially harmful and addictive substances in bronchoalveolar lavage (BAL) fluid collected from EVALI case patients. This report describes the development and validation of a high-throughput isotope dilution HPLC-MS/MS method for measuring two nicotine biomarkers, cotinine (COT) and trans-3'-hydroxycotinine (HCT), in BAL fluid samples...

IMPORTANCE: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may be uninformative; thus, non-invasive imaging is needed to assess early LOPD muscle changes. Muscle ultrasound (US) measuring echointensity (EI) is a non-invasive measure of muscle health. OBJECTIVE: In this study, we aimed to evaluate if EI can identify characteristic patterns of muscle involvement in LOPD patients identified by NBS...

PURPOSE: The treatment of infantile Blount's disease usually includes surgical correction, but high recurrence is still a problem regardless of the procedure. We conducted a cross-sectional study of severely neglected infantile Blount's disease treated with acute correction and simultaneous hemiepiphysiodesis of lateral proximal tibia physis. In this study, we aimed to observe the complication and recurrence. METHODS: This research is an analytical study with a cross-sectional design using retrospective data collection and total sampling...

BACKGROUND: The burden of pediatric TB is high in Uganda. Our objective was to evaluate predictors of mortality during TB treatment among children at an urban and a rural referral hospital. METHODS: We designed a historical cohort study of TB cases at Mulago National Referral Hospital, Kampala; and Fort Portal Regional Referral Hospital, Fort Portal, Uganda, in children aged <15 years from 2016 to 2021. We used Kaplan-Meier models to estimate survival and fit multivariable Cox regression models to determine mortality hazards during TB treatment...