Hip reconstruction in children with cerebral palsy: does magnitude of surgery influence complications and outcomes?

Children with cerebral palsy (CP) and neuromuscular hip dysplasia (NMHD) frequently require hip reconstruction including femoral and pelvic osteotomies. Outcomes and complications in CP patients with NMHD who underwent varying degrees of hip reconstruction surgeries were examined. Ninety-nine patients with a diagnosis of CP who underwent surgical management of NMHD over a 15-year period (2005-2020) were reviewed. Three patient cohorts with varying degrees of surgery were analyzed including: (1) unilateral femoral osteotomy with pelvic osteotomy; (2) bilateral femoral osteotomy with unilateral pelvic osteotomy; and (3) simultaneous bilateral femoral osteotomy and bilateral pelvic osteotomy. Data points included operative (OR) time, length of stay (LOS), estimated blood loss (EBL), and transfusion requirement. Complications during the perioperative and postoperative periods were identified and graded by severity. Increased EBL, need for transfusion, OR time, and LOS were observed more frequently in patients undergoing bilateral reconstruction. Complication rates were high for all three cohorts, with 87% of cases in the bilateral pelvic osteotomy cohort experiencing ≥1 complication. However, 90% of these were considered grade I or II and required no or minimal intervention. The average postoperative migration index at final follow-up for treated hips was significantly less in bilateral pelvic osteotomy cases. Patients with CP and bilateral NMHD can be safely managed with bilateral simultaneous comprehensive reconstruction. The data presented in this study can help both surgeons and families anticipate a more accurate postoperative course. Level of evidence: III.

Highlighting vulnerabilities in the alternative lengthening of telomeres pathway.

The alternative lengthening of telomeres (ALT) pathway is a telomere elongation mechanism found in a small but often aggressive subset of cancers. Dependent on break-induced replication, telomere extension in ALT-positive cells relies on a baseline level of DNA replication stress to initiate elongation events. This results in an elevated level of DNA damage and presents a possible vulnerability to be exploited in the development of ALT-targeted cancer therapies. Currently, there are no treatment options that target the ALT mechanism or that are specific for ALT-positive tumors. Here, we review recent developments and promising directions in the development of ALT-targeted therapeutics, many of which involve tipping the balance towards inhibition or exacerbation of ALT activity to selectively target these cells.

Does use of ankle foot orthoses affect the dynamic motor control index during walking in cerebral palsy and idiopathic toe walking populations?

BACKGROUND: The dynamic motor control (walk-DMC) index during walking is a measure of the complexity of muscle activation pattern. Ankle Foot Orthoses (AFO) are frequently used to improve the gait of children with Cerebral Palsy (CP) and Idiopathic Toe Walking (ITW). The purpose of this study was to assess the change in walk-DMC index secondary to AFO use. RESEARCH QUESTION: Does the change in walk-DMC reflect the change in walking kinematics with the use of AFO. METHODS: Individuals with diagnosis of CP or ITW with gait analysis data available for barefoot and AFO condition were retrospectively identified. For each individual, the walk-DMC index, Gait Deviation Index (GDI) and Gait Variable Scores (GVS) of knee and ankle kinematics were computed for BF and AFO conditions. Paired t-tests were used to compare key variables between BF and AFO conditions. Multi-variate stepwise regression analysis was performed to identify variables that may predict the increase in walk-DMC between BF and AFO condition. RESULTS: 253 individuals were included in the study. For CP individuals (n = 208), statistically significant but quantitatively minimal improvement was observed in walk-DMC (1 ± 9), GDI (2 ± 9) and ankle GVS (2 ± 7). For ITW individuals (n = 45), larger improvements were observed in walk-DMC (11 ± 13), GDI (9 ± 11) and ankle GVS (6 ± 7). Diagnosis of ITW, use of Solid-AFO and Posterior Leaf Spring-AFO were the significant predictor of increase in walk-DMC with AFO. Higher ankle GVS at BF condition (larger deviation from TD) led to larger increase in walk-DMC. Higher knee GVS (larger deviation from TD) led to smaller increase in walk-DMC. SIGNIFICANCE: Use of AFO can lead to improvement in walking kinematics that is reflected in increase in walk-DMC with AFO compared to BF for ITW individuals. The change in kinematics and walk-DMC with use of AFO was minimal for CP individuals.

The Weekly Calendar Planning Activity to Assess Functional Cognition in Parkinson Disease.

The Weekly Calendar Planning Activity (WCPA) may improve understanding of functional cognition in people with Parkinson disease (PwPD) without dementia. We aimed to determine if WCPA performance (a) discriminates between PwPD with and without cognitive impairment and healthy controls and (b) correlates with other indicators of cognition and daily function. This was a cross-sectional study. Parkinson disease (PD) participants without dementia were divided into normal cognition (PD-NC, n = 25) and possible mild cognitive impairment (PD-MCI, n = 21) groups. Their WCPA performance was compared with that of a normative sample (n = 196) and correlated with neuropsychological test performance and self-reported cognition and participation. Both the PD-MCI and PD-NC groups had impaired WCPA performance. WCPA performance correlated with executive function, processing speed, and self-reported cognition and participation. The WCPA can detect functional cognitive deficits in PwPD without dementia and can inform occupational therapy interventions to support functional cognition, occupational performance, and participation in this population.

Occupational Therapy Interventions for Instrumental Activities of Daily Living for Adults With Parkinson's Disease: A Systematic Review.

IMPORTANCE: Instrumental activities of daily living (IADLs) are important for independence, safety, and productivity, and people with Parkinson's disease (PD) can experience IADL limitations. Occupational therapy practitioners should address IADLs with their clients with PD. OBJECTIVE: To systematically review the evidence for the effectiveness of occupational therapy interventions to improve or maintain IADL function in adults with PD. DATA SOURCES: MEDLINE, CINAHL, PsycINFO, OTseeker, and Cochrane databases from January 2011 to December 2018. Study Selection and Data Collection: Primary inclusion criteria were peer-reviewed journal articles describing Level 1-3 studies that tested the effect of an intervention within the scope of occupational therapy on an IADL outcome in people with PD. Three reviewers assessed records for inclusion, quality, and validity following Cochrane Collaboration and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. FINDINGS: Twenty-two studies met the inclusion criteria and were categorized into four themes on the basis of primary focus or type of intervention: physical activity, specific IADL-focused, cognitive rehabilitation, and individualized occupational therapy interventions. There were 9 Level 1b, 9 Level 2b, and 4 Level 3b studies. Strong strength of evidence was found for the beneficial effect of occupational therapy-related interventions for physical activity levels and handwriting, moderate strength of evidence for IADL participation and medication adherence, and low strength of evidence for cognitive rehabilitation. CONCLUSIONS AND RELEVANCE: Occupational therapy interventions can improve health management and maintenance (i.e., physical activity levels, medication management), handwriting, and IADL participation for people with PD. Further research is needed on cognitive rehabilitation. This review is limited by the small number of studies that specifically addressed IADL function in treatment and as an outcome. What This Article Adds: Occupational therapy intervention can be effective in improving or maintaining IADL performance and participation in people with PD. Occupational therapy practitioners can address IADL function through physical activity interventions, interventions targeting handwriting and medication adherence, and individualized occupational therapy interventions.

Terminal Syme Amputation of the Great Toe in the Pediatric Population.

BACKGROUND: In the pediatric population, chronic ingrown toenails (onychocryptosis) can cause infection (paronychia), debilitating pain, and may be unresponsive to conservative treatments. Following multiple failed interventions, a terminal Syme amputation is one option for definitive treatment of chronic onychocryptosis. This procedure involves amputation of the distal aspect of the distal phalanx of the great toe with complete removal of the nail bed and germinal center, preventing further nail growth and recurrence. METHODS: A retrospective review was performed to determine outcomes of a terminal Syme amputation in the pediatric population. Inclusion criteria included treatment of onychocryptosis involving terminal Syme amputation with a minimum follow-up of 1 year. The medical record was reviewed to assess previous failed treatment efforts, perioperative complications, radiographic outcomes, and the need for additional procedures. RESULTS: From 1984 to 2017, 11 patients (13 halluces) with onychocryptosis were treated with a terminal Syme amputation. There were no intraoperative complications. One hallux had a postoperative infection requiring antibiotics as well as partial nail regrowth following the terminal Syme procedure that required subsequent removal of the residual nail. Following partial nail ablation, the patient had no further nail growth. An additional patient also developed a postoperative infection requiring oral antibiotic treatment. All patients returned to full weight-bearing physical activities within 6 weeks of surgery. CONCLUSIONS: Terminal Syme amputation was successful in treating pediatric patients who have recalcitrant onychocryptosis and paronychia. There was little functional consequence following terminal Syme amputation of the great toe in this patient population, making it an effective salvage procedure. LEVEL OF EVIDENCE: Level IV-retrospective comparative study.

Patient-Reported Outcome Measurement Information System (PROMIS) Scores in Pediatric Patients With Arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a clinical term that is used to describe congenital contractures that lead to childhood deformities. Treatment aims are to maximize function while minimizing pain and disability. Few studies have explored patient-reported outcomes in the pediatric arthrogrypotic population, particularly concerning mobility. The aim of this study was to report scores for the Patient-Reported Outcome Measurement Information System (PROMIS) questionnaire for pediatric patients with arthrogryposis with regards to mobility, upper extremity (UE) function, pain interference, and peer relationships. METHODS: A retrospective chart review of 76 patients with AMC aged 5 to 17 who completed the PROMIS questionnaire between January 1, 2017 to March 24, 2020 was performed. Results were collected for four domains: mobility, UE function, pain interference, and peer relationships. Outcomes were stratified by type of arthrogryposis: Amyoplasia (Am), Distal Arthrogryposis (DA), and Other Diagnoses (OD). Results of subjects with isolated upper or lower extremity involvement were compared with subjects with involvement of upper and/or lower extremities. Outcomes were correlated with history of surgical intervention. RESULTS: Children with Am and OD demonstrated moderate impairment of mobility (average: 35.2 and 35.9, respectively), while those with DA reported only mild impairment (average: 44.9). UE function was severely impaired for children with Am (average: 23.0), moderately impaired for OD (average: 33.0), and mildly impaired for DA (average: 43.4). All patient groups reported normal ranges of pain interference, as well as good peer relationships. A moderate negative correlation between number of surgical interventions and mobility scores, and a weak negative correlation between number of surgeries and pain interference scores were found. CONCLUSIONS: Children with AMC experience limited mobility and UE function, but normal levels of pain interference and good peer relationships. The average values provided in this study will serve as a baseline from which to evaluate the efficacy of both nonoperative and surgical interventions. LEVEL OF EVIDENCE: Level II-prognostic study; retrospective study.

Acute Thoracic Outlet Syndrome Associated with Congenital Pseudarthrosis of the First Rib: A Case Report.

CASE: A 15-year-old right-hand-dominant adolescent girl presented with a nondisplaced first rib fracture and evidence of mesoacromion. She reported radiating numbness, pain, temperature change, and paresthesia in her left arm. An MRI revealed a first rib fracture along with brachial plexus and scalene musculature inflammation. Follow-up radiographs demonstrated bilateral rib anomalies during routine comparison views. CONCLUSION: Congenital pseudarthrosis of the first rib occurs but is not well documented in the literature. This case report describes a case of congenital bilateral first rib pseudarthrosis with associated thoracic outlet syndrome symptoms in a competitive female softball athlete.

RAD54 promotes alternative lengthening of telomeres by mediating branch migration.

Cancer cells can activate the alternative lengthening of telomeres (ALT) pathway to promote replicative immortality. The ALT pathway promotes telomere elongation through a homologous recombination pathway known as break-induced replication (BIR), which is often engaged to repair single-ended double-stranded breaks (DSBs). Single-ended DSBs are resected to promote strand invasion and facilitate the formation of a local displacement loop (D-loop), which can trigger DNA synthesis, and ultimately promote telomere elongation. However, the exact proteins involved in the maturation, migration, and resolution of D-loops at ALT telomeres are unclear. In vitro, the DNA translocase RAD54 both binds D-loops and promotes branch migration suggesting that RAD54 may function to promote ALT activity. Here, we demonstrate that RAD54 is enriched at ALT telomeres and promotes telomeric DNA synthesis through its ATPase-dependent branch migration activity. Loss of RAD54 leads to the formation of unresolved recombination intermediates at telomeres that form ultra-fine anaphase bridges in mitosis. These data demonstrate an important role for RAD54 in promoting ALT-mediated telomere synthesis.

Evaluation of a Behavioral Intervention With Multiple Components Among Low-Income and Uninsured Adults With Obesity and Diabetes.

PURPOSE: To examine the effects of a community-based behavioral intervention with multiple components on health outcomes among low-income and uninsured adults who were obese and had diabetes and treated in a "real-world" setting. DESIGN: A longitudinal design with a retrospective comparison group was used to examine the ability of a health promotion program to improve body mass index (BMI) and hemoglobin A1c (HbA1c) among 87 treatment group and 62 comparison group participants. SETTING: Urban/metropolitan city in the United States. INTERVENTION: A community-based behavioral intervention with 3 components including health-coach visits, registered dietitian visits, and exercise consultations delivered over 12 months. MEASURES: Biometric measurements were collected at baseline, 3, 6, 9, 12, and 18 months, whereas self-reported measurements were collected at baseline, 6 months, and 12 months. ANALYSIS: Linear mixed models with participant-level random intercepts were fitted for BMI and HbA1c. RESULTS: The treatment group demonstrated reductions in BMI (percentage change = -2.1%, P < .001) and HbA1c (-0.6%, P < .001) as well as improvement in diabetes knowledge (+5.4%, P = .025), whereas the comparison group did not show any improvements in biometric measures. Dietitian visits were the most effective treatment component to reduce HbA1c (coefficient = -0.08, P = .025). CONCLUSION: Multiple component behavioral intervention in community settings, particularly when delivered by registered dietitians, shows promise to combat the dual epidemic of obesity and diabetes among low-income and uninsured patients.

The safety of deFinity and Optison for ultrasound image enhancement: a retrospective analysis of 78,383 administered contrast doses.

BACKGROUND: The purpose of this retrospective analysis was to define the incidence of severe adverse events after exposure to ultrasound contrast agents. METHODS: Data between January 1, 2001, and September 30, 2007, were collected using invited responses to an on-line web-based questionnaire from 1 general and 12 cardiac ultrasound laboratories. During a period of 4.5 +/- 2.4 years, a total of 66,164 doses of Definity (Lantheus Medical Imaging, North Billerica, MA) and 12,219 doses of Optison (GE Healthcare, Buckinghamshire, UK) were administered, reflecting contrast use in 5% of transthoracic and 28% of stress echocardiographic procedures. More than 10,000 doses were given to critically ill patients in intensive care unit settings or to patients with acute chest pain of suspected cardiac origin. The median age of patients who received an ultrasound contrast agent was 60 years, 49% were male, and the mean body mass index was 32 +/- 1.4 g/m(-2). RESULTS: Severe reactions that were considered "probably" related to an ultrasound contrast agent developed in 8 patients (0.01%), all of whom were outpatients, and 4 (0.006%) of these were consistent with anaphylactoid reactions. There were no deaths reported. All patients recovered with treatment. No serious events were seen in inpatients. CONCLUSION: This multicenter, retrospective analysis includes the largest number of doses of ultrasound contrast agents ever published and a large number of patients evaluated in a wide variety of settings, including the critically ill. It shows that these agents have a good safety profile in both cardiac and abdominal ultrasound applications. The incidence of severe adverse reactions to ultrasound contrast agents is no greater, and may be lower, than that reported for contrast agents commonly used in other cardiac imaging tests.