What Do We Really Know About the Natural History of Spastic Hip Dysplasia and Pain in Total-involvement Cerebral Palsy? A Systematic Review.

BACKGROUND: Hip surveillance protocols and surgery for spastic hip dysplasia have become standard of care for children with cerebral palsy (CP) out of concern for long-term sequelae, including pain. It is unclear if available data support that spastic hip dysplasia/dislocation independently correlates with pain in total-involvement CP. A better understanding of this correlation may help guide decision-making for these medically complex patients. METHODS: We undertook a systematic literature review to assess published data on the association of spastic hip dysplasia and pain in total-involvement CP using PubMed (which includes the MedLine databases) and EMBASE databases. A total of 114 English-language articles were identified. Fifteen articles met the inclusion criteria and were evaluated using the PRISMA guidelines for systematic reviews. RESULTS: Of 15 articles that specifically assessed the association of spastic hip dysplasia and pain, 5 articles provided strong evidence per our criteria regarding the correlation of pain and spastic hip dysplasia. All 5 articles described the severity of CP in their studied population, radiographically defined hip displacement, included a control group, and described how pain was assessed. Nevertheless, there was no standard classification of dysplasia between studies and the ages of patients and methods of pain determination varied. Four of the articles provided level III evidence and one provided level II evidence. Of these 5 articles with the strongest available evidence, data from 2 did not support a correlation between hip dysplasia and hip pain, 2 supported a correlation, and 1 was equivocal. CONCLUSIONS: Even the best available evidence on spastic hip dysplasia and pain reveals no consensus or conclusion on whether spastic hip dysplasia and dislocation in total-involvement CP is independently correlated with pain. LEVEL OF EVIDENCE: Level III-Prognostic study.

Dorsal Rhizotomy in the Pediatric Patient.

SUMMARY: The majority of cases of dorsal rhizotomy surgeries in children are done to improve the spasticity associated with cerebral palsy, and more recent techniques are selective in nature and referred to as selective dorsal rhizotomy (SDR). The techniques applied to selective dorsal rhizotomy surgery has changed since it was first described and continues to undergo modifications. Approaches to surgery and monitoring vary slightly among centers. This article provides a review of the rationale, variety of surgical approaches, and intraoperative neurophysiologic monitoring methods used along with discussion of the risks, complications and outcomes in these surgeries.

Neuromodulation and quality of life for patient with spasticity after spinal cord injury.

RATIONALE: Spasticity develops in 80% of spinal cord injury cases and negatively affects the patents' quality of life. The most common method of surgical treatment for severe spasticity is a long-term intrathecal baclofen therapy (ITB). Long-term spinal cord stimulation is another possible treatment technique. This paper aims to evaluate the changes in quality of life for patients with spasticity who have been treated with neuromodulation (SCS or ITB) in 12 months after the surgery, as well to compare the changes in quality of life for patients who have been treated with spinal cord stimulation and those who received long-term intrathecal baclofen therapy. MATERIALS AND METHODS: The influence of spasticity, experienced by the patients with a spinal cord injury, on their quality of life was analyzed before the surgery and 12 months after it. The severity of the spinal cord damage was determined with the scale of the American Spinal Injury Association (ASIA); spasticity was evaluated with the modified Ashworth scale, Penn Spasm Frequency Scale; pain levels were determined with visual analogue scale (VAS), anxiety and depression levels - with HADS. Functional activity of the patients was evaluated with the help of the Functional Independence Measure (FIM). RESULTS: The treatment results for 33 patients (25 men and 8 women), aged from 18 to 62, are presented. After the trial stimulation, the patients were randomly assigned to either SCS or ITB group (18 and 15 people respectively). The decrease of spasticity in both experimental groups caused lower levels of pain, less functional dependency on other people, lower stress and depression rates and, as a consequence, better quality of life and social adaptation. The obtained results for SCS and ITB groups are statistically similar.

Soft Tissue Releases With Simultaneous Guided Growth Decrease Risk of Spastic Hip Displacement Recurrence.

BACKGROUND: Soft tissue release (STR) is an established treatment for spastic hip displacement, but recurrence of hip displacement is not uncommon. This study aims to (1) evaluate the recurrence of hip displacement after STR, (2) define associated factors of recurrence, and (3) elucidate the effects of guided growth on hip displacement recurrence. METHODS: The study subjects included 66 individuals with spastic cerebral palsy treated by STR with or without guided growth for hip displacement. The treatment goal was the maintenance of migration percentage (MP) to <40%. Recurrence was defined by a rebound of the MP by 5% or more after the first postoperative year. Children with recurrence were compared with those without recurrence using the Mann-Whitney U test and the χ 2 test. The risk factors for recurrence were evaluated using multiple logistic regression analysis. RESULTS: Nineteen individuals (29%) had a recurrence of hip displacement after the first postoperative year. They sustained a 2-fold increase in the rate of treatment failure ( P < 0.001) and reoperation ( P = 0.04). Age, sex, motor function, and preoperative radiographic parameters were comparable between individuals with and without recurrence. The use of guided growth was associated with less risk of recurrence than without (5% and 39%, respectively, odds ratio = 0.01 to 0.45, respectively) despite the similar risk of failure (35% and 48%, respectively, odds ratio = 0.15 to 4.82). CONCLUSIONS: Recurrence of the MP >5% after the first postoperative year is an important early indicator for failure to control MP to <40% and reoperation. Guided growth not only decreases coxa valga but also reduces the risk of recurrent hip displacement after STR. LEVEL OF EVIDENCE: Level III; case-control study.

The Effect of Selective Dorsal Rhizotomy on Hip Displacement in Children With Cerebral Palsy: A Long-term Follow-up Study.

BACKGROUND: Hip displacement is common in children with cerebral palsy (CP). Spasticity in the hip adductor muscles, hip flexors, and medial hamstrings has been identified as a possible cause of progressive hip displacement. Selective dorsal rhizotomy (SDR) aims to reduce lower extremity spasticity in children with CP. Here, we investigate the influence of SDR on hip displacement in children with CP at long-term follow-up, a minimum of 5 years post-SDR. METHODS: A retrospective review of children undergoing SDR at a Canadian pediatric hospital was completed. Migration percentage (MP) was measured on pelvis radiographs taken in the 6 months before SDR and minimum 5 years post-SDR or before hip surgery. The number of hips with displacement, defined as MP >30%, and the number of children with at least 1 hip displaced were determined. A linear mixed-effects model was used to assess potential risk factors for poor outcome post-SDR, defined as having MP >40% or surgical intervention for hip displacement. RESULTS: Ninety children [50 males, 40 females, Gross Motor Function Classification System (GMFCS) levels I to V: 1/13/24/43/9] with a mean follow-up of 8.5 years (SD 5.1) were included. The mean age at SDR was 4.9 years (SD 1.5); more than half of children (52%) had hip displacement at the time of SDR. Post-SDR, MP exceeded 30% in 0 (0%) of children at GMFCS level I, 1 (8%) at II, 11 (46%) at III, 31 (72%) at IV, and 7 (78%) at V. A poor outcome was associated with preoperative MP, age, and GMFCS level. CONCLUSIONS: The incidence of hip displacement post-SDR was consistent with population-based studies when evaluated by GMFCS. Our findings suggest that SDR has neither a positive nor negative effect on hip displacement when assessed at least 5 years postintervention. LEVEL OF EVIDENCE: Level IV.

Identification of risk factors for reconstructive hip surgery after intrathecal baclofen therapy in children with cerebral palsy.

OBJECTIVE: This study aimed to determine the risk factors for reconstructive hip surgery after intrathecal baclofen pump application in children with cerebral palsy. METHODS: Inclusion criteria were children with hypertonic (spastic or mixed spastic/dystonic motor type) cerebral palsy, intrathecal baclofen implantation <8 years of age, no reconstructive osteotomies prior to or concomitant with intrathecal baclofen implantation and at least a 5-year follow-up. Exclusion criteria included reconstructive osteotomies prior to or concurrent with intrathecal baclofen implantation, lack of at least 1 hip surveillance radiograph before intrathecal baclofen, lack of a 5-year follow-up, or having selective dorsal rhizotomy. In addition, patients with bony surgery plus last follow-up migration percentage ≥50% were labeled as required reconstruction hips. RESULTS: We identified 34 patients (68 hips). The mean follow-up was 9.2 ± 2.8 years. The mean age for intrathecal baclofen application was 6.4 ± 1.2 years. Seven patients were Gross Motor Function Classification System IV, and 27 were V. Eighteen patients (52.9%) with 31 hips (45.6%) were requiring reconstruction at the final follow-up. In multivariate analysis, male sex (odds ratio 12.8, P=.012), pre-intrathecal baclofen migration percentage (odds ratio 1.1, P=0.003), age at intrathecal baclofen implantation (odds ratio 0.24, P=.002), and delta migration percentage (odds ratio 1.1, P=.002) were significant risk factors for requiring reconstruction. Patients with intrathecal baclofen <6.2 years of age had a significantly higher rate of requiring reconstruction. A pre-intrathecal baclofen migration percentage >31% had a greater risk of progression to requiring reconstruction (P=.001). Delta migration percentage higher than 15% was significantly associated with progression to requiring reconstruction (P=.043). CONCLUSION: The risk of requiring reconstruction osteotomies after intrathecal baclofen was significantly increased in males, those younger (±migration percentage >31%) at the time of intrathecal baclofen implantation and those with an increased rate of migration percentage progression after intrathecal baclofen implantation. LEVEL OF EVIDENCE: Level IV, Prognostic Study.

Can Significant Coronary Artery Disease Coexist With Transient Takotsubo Cardiomyopathy, and How Does Spasm Interrelate?

An 86-year-old woman being treated for metastatic breast cancer developed severe chest pain at rest during a follow-up visit at a hospital's outpatient oncology clinic. An electrocardiogram showed severe ST-segment elevation. The patient was given sublingual nitroglycerin and was transferred to the emergency department. Diagnostic coronary angiography revealed moderate coronary artery disease with calcific stenoses and transient spastic occlusion of the left anterior descending coronary artery. For this patient, sublingual nitroglycerin aborted the spastic event and apparent transient takotsubo cardiomyopathy. Chemotherapy can potentially cause endothelial dysfunction and increased coronary spasticity, which could result in takotsubo cardiomyopathy.

A multicenter initiative to reduce intrathecal baclofen pump surgical site infection: a Cerebral Palsy Research Network quality improvement project.

OBJECTIVE: Intrathecal baclofen (ITB) therapy is an effective treatment for spasticity and dystonia in children with cerebral palsy (CP). However, ITB pump surgery is associated with one of the highest rates of surgical site infection (SSI) in medicine, leading to significant morbidity and expense. Surgical protocols have reduced the rate of SSI in children with other CNS implants, and single-center protocols have been effective in ITB surgery in pediatrics. The authors describe the first multicenter quality improvement (QI)-driven standardized protocol for ITB pump surgery in children with CP across the Cerebral Palsy Research Network (CPRN), implemented with the aim of reducing ITB-associated SSI. METHODS: SSI was defined as a culture-positive infection, ITB pump system removal for suspected infection, or wound dehiscence with exposed hardware. Each center reported historical infection rates for at least 3 years before initiating the SSI protocol (preintervention phase). After initiation of a 13-step surgical protocol, a consecutive series of 130 patients undergoing 149 surgical procedures for ITB at four CPRN tertiary pediatric neurosurgery centers were prospectively enrolled at surgery during a 2-year study period (intervention phase). QI methodology was used, including development of a key driver diagram and tracking performance using run and control charts. The primary process measure goal was documented compliance with 80% of the protocol steps, and the primary outcome measure goal was a 20% reduction in 90-day infection rate. Patient characteristics were collected from the CPRN Research Electronic Data Capture registry, including age at surgery, BMI, Gross Motor Function Classification System level, and pattern of spasticity. RESULTS: The aggregated preintervention 90-day ITB SSI rate was 4.9% (223 procedures) between 2014 and 2017. During the intervention phase, 136 of 149 ITB surgeries performed met inclusion criteria for analysis. The mean documented compliance rate with protocol steps was 75%, and the 90-day infection rate was 4.4%, with an average of 42 days from index surgery to infection. CONCLUSIONS: This is the first multicenter QI initiative designed to reduce SSI in ITB surgery in children with CP. Ongoing enrollment and expansion of the protocol to other CPRN centers will facilitate identification of patient- and procedure-specific risk factors for SSI, and iterative plan-do-study-act cycles incorporating these data will further decrease the risk of SSI for ITB surgery in children.

Hip Displacement After Triradiate Cartilage Closure in Nonambulatory Cerebral Palsy: Who Needs Continued Radiographic Surveillance?

BACKGROUND: Recommendations with regard to the need for continued hip surveillance after skeletal maturity are based on expert opinion rather than evidence. This study aimed to determine the prevalence of and risk factors associated with progressive hip displacement in cerebral palsy (CP) after triradiate cartilage (TRC) closure. METHODS: Patients who had spastic nonambulatory CP (Gross Motor Function Classification System IV to V) and hypertonic (spastic or mixed-type) motor type and follow-up of at least 2 years after TRC closure were included. The primary outcome variable was the hip migration percentage (MP). The secondary outcome variables included patient age at the time of TRC closure, prior preventative or reconstructive surgery, a prior intrathecal baclofen pump, history of scoliosis, history of epilepsy, a prior gastrostomy tube, a previous tracheostomy, and gender. An unsuccessful hip outcome was defined as a hip with an MP of ≥40% and/or requiring a reconstructive surgical procedure after TRC closure. RESULTS: In this study, 163 patients met the inclusion criteria, with a mean follow-up of 4.8 years (95% confidence interval [CI], 4.4 to 5.1 years) after TRC closure at a mean patient age of 14.0 years (95% CI, 13.7 to 14.3 years). Of these hips, 22.1% (36 of 163) had an unsuccessful hip outcome. In multivariate analysis, the first MP at TRC closure (hazard ratio [HR] per degree, 1.04; p < 0.001) and pelvic obliquity (HR per degree, 1.06; p = 0.003) were independent risk factors for an unsuccessful hip outcome, but gender was not found to be significant (HR for male gender, 1.7 [95% CI, 0.8 to 3.58; p = 0.16]; female gender was the reference). However, the mean survival time for progression to an unsuccessful hip outcome was longer for female patients at 9.2 years [95% CI, 8.1 to 10.2 years]) compared with 6.2 years (95% CI, 5.6 to 6.9 years) for male patients (p = 0.02). There was also a significant improvement in survivorship for prior reconstructive surgical procedures (p = 0.002). The survivorship in patients who underwent reconstructive surgery performed at a patient age of ≥6 years was significantly higher compared with those who underwent surgery performed at <6 years of age (p < 0.05). A first MP at TRC closure of ≥35% was associated with an unsuccessful hip outcome, as determined by receiver operating characteristic (ROC) curve analysis (p < 0.001; area under the ROC curve of 0.891, sensitivity of 81%, and specificity of 94%). CONCLUSIONS: The risk factors for the progression of hip displacement after TRC closure in patients with CP included a higher MP and increased pelvic obliquity; there was decreased survivorship for male patients and patients with no prior reconstructive surgery. Patients with these risk factors and/or an MP of ≥35% at TRC closure should have continued radiographic surveillance to detect late hip displacement. LEVEL OF EVIDENCE: Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.

Contralateral C7 nerve transfer via the prespinal route in treatment of spastic paralysis of upper limb after cerebral palsy.

BACKGROUND: Upper limb spasticity leads to different degrees of disabilities in cerebral palsy, which seriously affects the life of patients. Contralateral C7 nerve transfer has been shown to improve function and reduce spasticity in the affected upper limb with post-stroke hemiplegia. However, reports about the efficacy of this procedure in treating upper limb spasticity caused by hemiplegic cerebral palsy were limited. CASE DESCRIPTION: We reported two cases (a 23-year-old male and a 18-year-old female) who suffered from hemiplegic cerebral palsy with unilateral sustained upper limb spasticity and underwent contralateral C7 nerve transfer in adulthood. The scores of Fugel-Meyer and ROM of the affected upper limbs were observed before and after surgery. Compared with the preoperative, scores of the latest follow-up both were significantly improved. The muscle tension of the upper limbs decreased, and the symptoms of spasm were alleviated. CONCLUSIONS: Considering contralateral C7 nerve transfer could effectively relieve spasticity and improve upper limb activity, it can be recommended as one of the reliable methods to manage spasticity and dystonia of upper limbs in patients with hemiplegic cerebral palsy.

Prevalence and Risk Factors Associated With Pelvic Rod/Screw Radiographic Lucency Following Scoliosis Surgery in Spastic Cerebral Palsy: A Longitudinal Study.

BACKGROUND: Radiographic lucency around a smooth pelvic rod (Galveston/unit rod technique) or sacroiliac/iliac screw following spinal fusion in children with nonambulatory spastic cerebral palsy (CP) has been described as a "windshield wiper" phenomenon. We evaluated demographics, radiographs, and complications in 101 cases from a single center to determine prevalence, risk factors, and complications associated with persistent radiographic lucency from 1 to 5 years following spinal fusion. METHODS: Inclusion criteria were diagnosis of nonambulatory spastic quadriplegic CP [Gross Motor Function Classification System (GMFCS) IV-V], under 18 years of age, scoliosis treated by posterior fusion from upper thoracic to sacrum with pelvic fixation (Galveston rod, iliac screw, or sacroiliac screw), adequate radiographs (preoperative, immediate postoperative, first-year, and second-year), and minimum 5-year follow-up. We evaluated demographics, radiographic parameters, comorbidities, scoliosis curve type, type of pelvic screw/rod, use of off-set connector, screw width, associated with posterior column osteotomy and/or additional anterior spinal release concurrent with posterior spine fusion, and infection over the follow-up period. Specific attention was given to the area and shape of the radiographic lucency. The logistic regression analysis was performed for continuous and categorical variables to define risk factors ( P =0.05). RESULTS: In 101 patients, data were collected at mean intervals of 1-year, 2-year, and >5-year follow-up and were 12.9±1.5, 25.8±2.5, and 81.5±23.0 months, respectively. Prevalence of pelvic rod/screw radiographic lucency was unchanged at 33%, 35%, and 24% at 1-year, 2-year, and >5-year follow-up, respectively, and radiographic parameters did not change ( P >0.05). Furthermore, no risk factors or complications were associated with radiographic lucency around pelvic rods/screws ( P >0.05). CONCLUSION: In patients with spastic nonambulatory CP who had scoliosis treated with posterior spinal fusion from upper thorax to pelvis, the prevalence of pelvic rod/screw lucency is high. Persistent lucency >2 mm around pelvic implants is not clinically significant, does not warrant advanced imaging, or indicate a complication if stable over time and wider distally than proximally. LEVEL OF EVIDENCE: Level III.

Neuraxial anesthesia for post-operative pain control after hip surgery in children with cerebral palsy and pre-existing intrathecal baclofen pumps.

PURPOSE: The purpose of this study is to describe the efficacy and adverse events of neuraxial anesthesia for post-operative pain control in non-ambulatory children with cerebral palsy with pre-existing intrathecal baclofen (ITB) pumps undergoing hip reconstructive or palliative surgery. METHODS: Twelve children (mean age 11.25 years) were included in the study with the following neuraxial anesthesia methods: indwelling epidural catheter (8 patients), neuraxial opioids administered through the side port of the ITB pump (3 patients), and single injection spinal anesthetic (1 patient). Observational pain scores and opioid requirements were quantified for all patients. RESULTS: There were no ITB pump or surgical complications at a mean follow-up of 2.2 years. The average length of stay was 6 days. Patients had good post-operative pain control with a mean observational pain score of 0.7 and mean morphine equivalent use of 0.26mg/kg/day. Four patients required anti-emetics to control nausea and three patients had urinary retention requiring repeat catheterization, but all medical complications resolved prior to discharge. CONCLUSION: Neuraxial anesthesia can effectively control post-operative pain in children with a pre-existing ITB pump. Utilizing the side port of the ITB pump for administration of neuraxial opioids is an option when epidural or spinal anesthesia is not possible.

Severe Case of Oral Baclofen Withdrawal Resulting in Mechanical Ventilation.

Abrupt baclofen withdrawal may be life-threatening with varied neuropsychiatric manifestations. We present a case of baclofen withdrawal necessitating intubation. A 58-year-old female with a history of undiagnosed muscle spasticity presented with worsening extremities tremors, paresthesia, and weakness for 2 days. Initial vitals included temperature 103 F, tachycardia, hypertension, and tachypnea. Examination revealed coarse tremors of all extremities. Inflammatory markers, blood, and urine culture were negative. Head and spine imaging were non-diagnostic. Meningitis and seizure were ruled out. She continued worsening with hallucinations, hyperpyrexia, ocular clonus, and profound muscle rigidity. The patient was intubated for respiratory distress and transferred to intensive care unit (ICU). Further history revealed running out of oral baclofen 3 days ago. Baclofen was restarted with symptomatic improvement. The patient was extubated after 2 days and discharged to a rehabilitation facility. Oral or intrathecal baclofen is thought to inhibit spinal nerves reducing muscle spasm and pain. Abrupt stoppage causes activation of dopamine and noradrenergic receptors causing muscle spasms, tremors, hyperpyrexia, delusions, hallucination, and delirium. Severe cases can mimic meningoencephalitis, seizure disorder, or neuroleptic malignant syndrome. Symptoms usually develop in 1 to 3 days of cessation and can be life-threatening if unrecognized timely. Treatment includes supportive therapy, re-administration of baclofen, or use of benzodiazepines, propofol, dexmedetomidine; however, no specific guidelines have been established. To the knowledge of the authors, this is the first case of oral baclofen withdrawal requiring intubation. We found only 3 reported cases of intrathecal baclofen withdrawal necessitating intubation.

Long-term outcome following surgical treatment of posttraumatic tethered cord syndrome: a retrospective population-based cohort study.

STUDY DESIGN: Retrospective population-based cohort study. OBJECTIVE: To investigate the long-term outcome following surgery for posttraumatic spinal cord tethering (PSCT). SETTING: Publicly funded tertiary care center. METHODS: Patients surgically treated for PSCT between 2005-2020 were identified and included. No patients were excluded or lost to follow-up. Medical records and imaging data were retrospectively reviewed. RESULTS: Seventeen patients were included. Median age was 52 (23-69) years and 7 (41%) were female. PSCT was diagnosed at a median of 5.0 (0.6-27) years after the initial trauma. Motor deficit was the most common neurological manifestation (71%), followed by sensory deficit (53%), spasticity (53%), pain (41%) and gait disturbance (24%). Median follow-up time was 5.1 (0.7-13) years. Fifteen patients (88%) showed satisfactory results following untethering, defined as improvement or halted progression of one or more of the presenting symptoms. Treatment goals were met for motor symptoms in 92%, sensory loss in 100%, spasticity in 100%, gait disturbance in 100% and pain in 86%. Statistically, a significant improvement in motor deficit (p = 0.031) and syrinx decrease (p = 0.004) was also seen. A postoperative complication occurred in four patients: three cases of cerebrospinal fluid leakage and one postoperative hematoma. Two patients showed a negative surgical outcome: 1 with increased neck pain and 1 with left arm weakness following the postoperative hematoma. CONCLUSION: Surgical treatment of PSCT results in improved neurological function or halted neurological deterioration in the vast majority of patients.

Plasma Metabolomic Changes in Children with Cerebral Palsy Exposed to Botulinum Neurotoxin.

The long-term effect of botulinum neurotoxin A (BoNT-A) on children with cerebral palsy (CP) is unclear, and how the dynamic changes of metabolites impact the duration of effect remains unknown. To tackle this, we collected 120 plasma samples from 91 children with spastic CP for analysis, with 30 samples in each time point: prior to injection and 1, 3, and 6 months after injection. A total of 354 metabolites were identified across all the time points, 39 of which exhibited significant changes (with tentative IDs) (p values <0.05, VIP > 1). Principal component analysis and partial least-squares discriminant analysis disclosed a clear separation between different groups (p values <0.05). Network analysis revealed the coordinated changes of functional metabolites. Pathway analysis highlighted the metabolic pathways associated with energy consumption and glycine, serine, and threonine metabolism and cysteine and methionine metabolism. Collectively, our results identified the significant dynamic changes of plasma metabolite after BoNT-A injections on children with CP. Metabolic pathways associated with energy expenditure might provide a new perspective for the effect of BoNT-A in children with CP. Glycine, serine, and threonine metabolism and cysteine and methionine metabolism might be related to the duration of effect of BoNT-A.

Esophageal Dysmotility Is Associated With Disease Severity in Eosinophilic Esophagitis.

BACKGROUND & AIMS: An association of eosinophilic esophagitis (EoE) with esophageal dysmotility has been described, however, the related mechanism remains unclear. We aimed to evaluate clinical and physiologic characteristics, including esophageal distensibility, associated with secondary peristalsis in patients with EoE. METHODS: A total of 199 consecutive adult patients with EoE (age, 18-78 y; 32% female) who completed a 16-cm functional luminal imaging probe (FLIP) during endoscopy were evaluated in a cross-sectional study. FLIP panometry contractile response (CR) patterns were classified as normal CR or borderline CR if antegrade contractions were present, and abnormal CRs included impaired/disordered CR, absent CR, or spastic-reactive CR. The distensibility plateau of the esophageal body and esophagogastric junction distensibility was measured with FLIP. RESULTS: FLIP CR patterns included 68 (34%) normal CR, 65 (33%) borderline CR, 44 (22%) impaired/disordered CR, 16 (8%) absent CR, and 6 (3%) spastic-reactive CR. Compared with normal CRs, abnormal CRs more frequently had reduced esophageal distensibility (distensibility plateau <17 mm in 56% vs 32%), greater total EoE reference scores (median, 5; interquartile range [IQR], 3-6 vs median, 4; IQR, 3-5) with more severe ring scores, and a greater duration of symptoms (median, 10 y; IQR, 4-23 y vs median, 7 y; IQR, 3-15 y). Mucosal eosinophil density, however, was similar between abnormal CRs and normal CRs (median, 34 eosinophils/high-power field [hpf]; IQR, 14-60 eosinophils/hpf vs median, 25 eosinophils/hpf; IQR, 5-50 eosinophils/hpf). CONCLUSIONS: Although normal secondary peristalsis was observed frequently in this EoE cohort, abnormal esophageal CRs were related to EoE disease severity, especially features of fibrostenosis. This study evaluating secondary peristalsis in EoE suggests that esophageal wall remodeling, rather than eosinophilic inflammatory intensity, was associated with esophageal dysmotility in EoE.

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.

Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a continuous spectrum. Fatal infantile encephalopathy was observed in one family, whereas another patient presented at 27 years with acute leukoencephalopathy and recovered within 3 months. Intermediate forms presenting as complicated hereditary spastic paraparesis of variable severity were observed in four subjects. Clinical and molecular information of the 207 cases reported in literature were also retrieved and analyzed. We categorized all subjects into three categories - severe, intermediate and mild forms according to the clinical presentation. In addition, a total of 286 disease-causing variations reported to date were analyzed. These included seven disease-causing variants reported in this study of which one is novel. Some genotype-phenotype correlation could be seen which corroborated with previous observations. However, inter- and intrafamilial variability was also noted. Treatment with betaine, B12 and folic acid was started in four subjects with variable outcomes.

Tendon Transfers and Their Role in Cavus Foot Deformity.

Management of the cavus foot is a difficult task for the foot and ankle surgeon. Tendon transfers have been a longstanding accepted treatment for the flexible cavus foot. Performing tendon transfers requires an in-depth understanding of the patient's medical history, factors leading to the development of deformity, as well as the deforming forces contributing to the deformity. Evaluation of the patient for rigid, progressive, and/or spastic deformities is critical to avoid postoperative complications. Educating the patient on postoperative rehabilitation, potential complications, and postoperative expectations is essential to ensure appropriate surgical outcomes.