Blount's disease

Patient engagement in health technology assessment (HTA) has become increasingly important over the past 20 years. Academic and practitioner literature has produced numerous case studies and best practice accounts of patient involvement practices around the world. This text analyzes the experience of being involved in an Institute for Clinical and Economic Review (ICER) HTA review in the United States. The analysis comes from the joint perspective of three patient organizations: Lupus and Allied Diseases Association, Inc...

Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2...

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Purpose: Blount disease is most common among obese Black children. The reason for Blount's racial predisposition is unclear. Given that obesity is a risk factor for Blount disease and the known associations between race, obesity, and socioeconomic status in the United States, we hypothesized that socioeconomic status and severity of obesity differ between Black and non-Black children with late-onset Blount disease. We additionally examined differences in treatment types between Black and non-Black children...

The change from viewing noncoding RNA as "junk" in the genome to seeing it as a critical epigenetic regulator in almost every human condition or disease has forced a paradigm shift in biomedical and clinical research. Small and long noncoding RNA transcripts are now routinely evaluated as putative diagnostic or therapeutic agents. A prominent role for noncoding microRNAs in the central nervous system has uncovered promising new clinical candidates for dementia-related disorders, treatments for which currently remain elusive even as the percentage of diagnosed patients increases significantly...

BACKGROUND: Blount disease is a developmental abnormality characterized by abnormal ossification of proximal tibia, resulting in lower limb deformities with tibia vara. The condition worsens into knee deformity, gait abnormalities, and premature medial compartment osteoarthritis if left untreated. Managements of those deformities have also advanced in line with the understanding of the deformities. Without proper care management, they could lead into residual and translational deformities, increase of recurrence, and complicate the revision surgery...

AIM: To evaluate the results in terms of correction and complications from gradual correction with a computer-assisted hexapod circular external fixator in a mixed cohort of children with Blount's disease. MATERIALS AND METHODS: A retrospective review was performed of the correction and complications of 19 children (25 limbs) with recurrent infantile (IBD) and late-onset Blount's disease (LOBD) treated by gradual correction with a hexapod external fixator. The correction was measured by the medial proximal tibial angle (MPTA), anatomic posterior proximal tibial angle (aPPTA) and anatomic tibio-femoral angle (TFA)...

BACKGROUND AND PURPOSE: The success of epilepsy surgery in children with tuberous sclerosis complex (TSC) hinges on identification of the epileptogenic zone (EZ). We studied structural MRI markers of epileptogenic lesions in young children with TSC. METHODS: We included 26 children with TSC who underwent epilepsy surgery before the age of 3 years at five sites, with 12 months or more follow-up. Two neuroradiologists, blinded to surgical outcome data, reviewed 10 candidate lesions on preoperative MRI for characteristics of the tuber (large affected area, calcification, cyst-like properties) and of focal cortical dysplasia (FCD) features (cortical malformation, gray-white matter junction blurring, transmantle sign)...

The objective of this study was to examine long-term trends in serum cotinine (COT) concentrations, as a measure of secondhand smoke (SHS) exposure, in U.S. nonsmokers using data from the National Health and Nutrition Examination Surveys (NHANES) from 2003 to 2018. We analyzed NHANES serum COT results from 8 continuous NHANES 2 year cycles from 2003 to 2018 using a liquid chromatography-tandem mass spectrometry assay that has been maintained continuously at the Centers for Disease Control and Prevention (CDC) since 1992...

BACKGROUND: Currents trends in pediatric orthopaedics has seen an increase in surgeries being successfully completed in an outpatient setting. Two recent examples include slipped capital femoral epiphysis (SCFE) and Blount's disease. Surgical indications are well-studied for each pathology, but to our knowledge, there is an absence in literature analyzing safety and efficacy of inpatient vs outpatient management of either condition. We believed there would be no increase in adverse outcomes associated with outpatient treatment of either conditions...

Genu varum is a common finding in the pediatric population with a large differential, including but not limited to Blount's disease, rickets, and physiologic bowing of the legs. Here we report a case of a 12-year-old Caucasian male who presented for an atraumatic stress fracture of the fifth metatarsal after an athletic event. Further evaluation showed significant genu varum with a Q angle of 9 degrees and medial knee joint space narrowing. The patient was unable to undergo conservative management due to early completion of puberty with relatively premature skeletal maturity...

Introduction: Blount disease is a growth disorder of the medial proximal tibial physis causing a multi-planar deformity of the lower limb. Several types of surgical approaches have been described for the correction of angular deformity including external fixation, opened-/closed- wedge high tibial osteotomy (HTO), and tibial condylar valgus osteotomy. However, they are associated with various disadvantages such as limb length discrepancy, risk of infections, and delayed union at the osteotomy site, especially in cases of severe varus deformity...

RNA toxicity contributes to diseases caused by anomalous nucleotide repeat expansions. Recent work demonstrated RNA-based toxicity from repeat-associated, non-AUG-initiated translation (RAN translation). RAN translation occurs around long nucleotide repeats that form hairpin loops, allowing for translation initiation in the absence of a start codon that results in potentially toxic, poly-amino acid repeat-containing proteins. Discovered in Spinocerebellar Ataxia Type (SCA) 8, RAN translation has been documented in several repeat-expansion diseases, including in the CAG repeat-dependent polyglutamine (polyQ) disorders...

BACKGROUND: Radiographic findings in young children with physiological bowing sometimes difficult to distinguish from early Blount disease. However, early diagnosis of the disease is critical because of the poor treatment outcomes for Blount disease. In this study, we aim to evaluate the accuracy of the metaphyseal-diaphyseal angle (MDA) compared with the medial metaphyseal beak (MMB) angle for differentiating between physiological bowing and early Blount disease and to determine which parameter to adequately screen for the subsequent development of Blount disease...

PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation. RESULTS: Of the 20 infants, four were homozygous for the "late-onset" IVS1 splice site variant c...

Background: There are no comparative study between guided growth and tibial osteotomy in early stage of Blount disease (BD) to our knowledge. The aim of this work was to compare the results of patients treated by these two techniques. Method: This was a retrospective, descriptive, and analytical study over a period of 5 years in including 17 children (24 Knees) with an early stage of infantile BD in two centers. Patient were classified in two groups: group 1 (treated by guided growth), group 2 (treated by Tibial Osteotomy)...

In 2019, the Centers for Disease Control and Prevention responded to an outbreak of e-cigarette, or vaping, product use-associated lung injury (EVALI). Bronchoalveolar-lavage (BAL) fluid from EVALI patients was available for analysis to investigate a range of potential toxicants that might be present at the presumed site of lung injury. Our laboratory developed and validated a novel method to measure cannabinoids and their metabolites in BAL fluid to aid in the investigation of the toxicants that might be the cause of EVALI...

BACKGROUND: Healthcare workers (HCWs) not adhering to physical distancing recommendations is a risk factor for acquisition of severe acute respiratory coronavirus virus 2 (SARS-CoV-2). The study objective was to assess the impact of interventions to improve HCW physical distancing on actual distance between HCWs in a real-life setting. METHODS: HCWs voluntarily wore proximity beacons to measure the number and intensity of physical distancing interactions between each other in a pediatric intensive care unit...

BACKGROUND: Improvements in antenatal medicine and surgical management for conditions associated with spina bifida such as hydrocephalus have extended the lifespan for individuals with spina bifida (SB) into adulthood. Decisions and education regarding reproductive care and pregnancies for patients with spina bifida are increasingly important. Pregnancy in these patients can be particularly challenging due to physical limitations, previous abdominal surgery for urinary or bowel management and presence of a ventriculoperitoneal shunt...

Tobacco use is the leading preventable cause of premature disease and death in the United States. Approximately, 34 million U.S. adults currently smoke cigarettes. We developed a method for automated sample preparation and liquid chromatography-tandem mass spectrometry quantitation of 14 tobacco-related analytes: nicotine (NICF), cotinine (COTF), trans -3'-hydroxycotinine (HCTF), menthol glucuronide (MEG), anabasine (ANBF), anatabine (ANTF), isonicoteine (ISNT), myosmine (MYOS), beta-nicotyrine (BNTR), bupropion (BUPR), cytisine (CYTI), varenicline (VARE), arecaidine (ARD), and arecoline (ARL)...