Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

Comparative Evaluation of Digital Cephalometric Tracing Applications on Mobile Devices and Manual Tracing.

BACKGROUND Cephalometric radiography evaluates facial skeleton development and aids in diagnosis and treatment phases (pre and post) in orthodontics. This study aimed to compare digital cephalometric tracing using a smartphone application (App), a tablet-based platform, and manual tracing in 30 orthodontic patients. MATERIAL AND METHODS Thirty orthodontic pretreatment, criteria based, lateral cephalometric radiographs were analyzed/grouped for Steiner analysis parameters (5 skeletal, 3 dentals, 1 soft tissue) by 3 tracing methods [manual - group (Gp M), smartphone (Android - OS9) - Gp S, tablet (Apple - IOS13) - Gp T) after mandatory standardization/calibration. Measurements include 5 angular (SNA, SNB, ANB, SNMPA, SNOP), 3 linear U1NA, L1NB, U1L1, and 1 soft tissue (S line) (millimeters and degrees). Inter-examiner rating was determined using Dahlberg's test. After normality distribution testing (Shapiro-Wilk), data were analyzed using one-way analysis of variance (ANOVA) for group differences. Homogeneity of variance was verified using the Levene test. Differences were determined on probability value of (p≤0.05). RESULTS The results showed that Steiner's analysis parameters were similar in all groups with homogenous variances. Highest differences in mean values were found for L1NB, U1L1, and S line measurement, with higher values being observed in Gp S tracings. However, these differences were not statistically significant (p≤0.05). All parameters, irrespective of being measured in either degrees or millimeters, had means comparable to each other. CONCLUSIONS Smartphone and tablet-based applications produced tracings that were comparable and reliable when compared to conventional manual tracings. Standardization of images, processing, printing, and calibration of devices is important to achieve good results.

Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments.

PURPOSE: Hip displacement (HD) is common in spinal muscular atrophy (SMA), but neither genetic severity nor gross motor function level have been investigated as risk factors. Although disease-modifying agents (DMA) have improved function and overall health, their effects on the prevention of HD are unknown. The purpose of this study was to determine risk factors for HD development in SMA. METHODS: Retrospective cohort. Children with SMA presenting between January 2005 and August 2021, at least 1 hip radiograph, and a minimum 2-year follow-up were included. The primary outcome measure was the prevalence of HD (migration percentage ≥40%). Secondary outcomes included SMA type (I/II/III), survival motor neuron 2 copy number, Hammersmith Functional Motor Scale (HFMS, out of 66), ambulatory status (Functional Mobility Scale at 50 m), clinically relevant scoliosis (>40 degrees and/or surgery), and DMA treatment (>1-year duration, nusinersen/risdiplam/onasemnogene abeparvovec) as risk factors. Univariate and multivariate logistic regression analyses were performed. RESULTS: Eighty-two patients (52% female) with SMA type I (n=32, 39%), II (n=36, 44%), and III (n=14, 17%) met the inclusion criteria, with a final follow-up of 4.5 (SD: 2.7) years. Age at first hip radiograph was 3.4 (SD: 2.9) years. The prevalence of HD was 75.6%, with a mean age of onset of 4.6 (SD: 2.7) years. When stratified by SMA type, the prevalence/age of onset (mean, years) was 84%/3.1 (SD: 1.7), 80%/5.8 (SD: 2.3), and 36%/9.0 (SD: 4.3), respectively. HFMS score >23 was protective against HD by receiver operating characteristic analysis ( P =0.008). Significant risk factors by univariate analysis were SMA type I ( P =0.002) and II ( P =0.002), HFMS ≤23 ( P =0.01), nonambulatory status (Functional Mobility Scale at 50 m = 1, P =0.001), clinically relevant scoliosis ( P =0.01), and DMA treatment ( P =0.01). By multivariate analysis, only SMA type II ( P =0.04) and scoliosis ( P =0.04) were independent risk factors. CONCLUSIONS: The prevalence of HD in SMA is highly linked to disease severity. Identified risk factors can be used in the development of surveillance programs for early detection of HD in SMA, allowing for timely management. LEVEL OF EVIDENCE: Level III.

Does intrathecal baclofen therapy decrease the progression of hip displacement in young patients with cerebral palsy?

AIM: To evaluate the effects of intrathecal baclofen pump (ITBP) therapy on hip dysplasia in young patients with cerebral palsy (CP). METHOD: This was a retrospective cohort series of prospectively collected data. Inclusion criteria were all patients with CP in Gross Motor Function Classification System (GMFCS) levels IV or V who underwent ITBP placement under 8 years old with at least 5 years of follow-up. Thirty-four patients were matched to a control group of 71 patients based on GMFCS level, motor type, medical comorbidities, worst hip migration percentage at ITBP placement, age, and Modified Ashworth scale scores. Patients were followed for at least 5 years or until they had hip reconstructive surgery. The primary outcome was the development of hip displacement as measured by the migration percentage at the latest follow-up or the preoperative migration percentage before hip reconstruction. RESULTS: The migration percentage at last follow-up was not statistically different between groups (ITBP: 36.2%, non-ITBP: 44.4%, p = 0.14). The rates of future preventative, reconstructive, and recurrent hip surgery were not different between groups. INTERPRETATION: The use of ITBP as an early treatment of spasticity did not alter the natural history of progressive hip displacement in non-ambulatory patients with CP and hip displacement is likely multifactorial, not solely due to spasticity.

Ipsilateral chondral lesions worsen the long-term prognosis following arthroscopic partial medial meniscectomy.

PURPOSE: The effect of knee cartilage defects that are detected during partial meniscectomy remains controversial in terms of the long-term prognosis on knee function. This study aimed to investigate the effect of concurrent medial compartment focal cartilage lesions on the long-term prognosis of knee function in patients who underwent arthroscopic partial medial meniscectomy for traumatic medial meniscal tears. METHODS: This retrospective study analyzed 46 patients who underwent arthroscopic partial medial meniscectomy between 1991 and 2008 by a single surgeon. Twenty-one patients who underwent arthroscopic partial medial meniscectomy due to traumatic meniscal tear had focal chondral lesions only at the medial compartment, and these patients were assigned to group A. Twenty-five patients who had no cartilage lesions in any compartments were assigned to group B. The age, sex, body mass index (BMI), follow-up time, age at the time of surgery, clinical and radiological scores, and perioperative arthroscopy findings were analyzed. RESULTS: The mean follow-up time was 20 ± 3.7 years. No significant difference was found in the demographic data, and the average age of the patients at the time of operation was 35 ± 9.5 years. Both groups had improved Lysholm score at the last follow-up. Although no difference was found between the groups during the preoperative period, group B had a higher Lysholm score at the last follow-up than group A. The mean International Knee Documentation Committee (IKDC) and Knee injury and Osteoarthritis Outcome Score (KOOS) scores at the last follow-up were significantly higher in group B. The mean Kellgren-Lawrence grades in the operated knees of group A were higher than those of group B. In group A, a negative correlation was found between the BMI and postoperative Lysholm (r = - 0.461, p = 0.03) IKDC (r = - 0.433, p = 0.05) and KOOS (r = - 0.565, p = 0.008) scores. In group B, no correlation was found between BMI and any score. CONCLUSION: Among patients who underwent arthroscopic partial medial meniscectomy with an average follow-up of 20 years, those with concurrent focal cartilage defect in the medial compartment had clinically and radiologically worse outcomes than patients without any cartilage defect. Therefore, orthopedic surgeons should be meticulous before performing any arthroscopic partial medial meniscectomy in case of concurrent cartilage lesion. LEVEL OF EVIDENCE: Level III.

Femoral Head Deformity Associated With Hip Displacement in Nonambulatory Cerebral Palsy: Results at Skeletal Maturity.

BACKGROUND: Maintaining femoral head shape (FHS) and acetabular sphericity are important goals in preventing long-term osteoarthritis in hips in children with cerebral palsy (CP). As acetabular morphology has been widely studied, our objective was to determine FHS in CP after triradiate cartilage (TRC) closure, a proxy for skeletal maturity, and the risk factors associated with residual deformity and osteoarthritis. METHODS: In this retrospective cohort study, patients with CP [Gross Motor Function Classification System (GMFCS) IV to V], minimum 4 yearly hip radiographs after age 10 years, and at least 1 radiograph after age 16 years, were included. Primary outcome was FHS (Rutz), stratified as "less severe" (Rutz A to B) and "more severe" (Rutz C to D). Secondary outcomes included migration percentage (MP), age at TRC closure, previous reconstructive (femoral with/without pelvic osteotomies) surgery, previous intrathecal baclofen, Tönnis osteoarthritis grade, and GMFCS level. Statistical analyses included χ 2 analysis and multiple logistic regression. RESULTS: One hundred sixty-three patients (326 hips) met the inclusion criteria, with TRC closure at age 14.0 (SD: 1.8) years. At final follow-up of 4.4 (SD: 2.4) years after TRC closure, 17% (55 hips), had a "more severe" FHS. From TRC closure to final follow-up, the frequencies of "less severe" hips decreased (-10%, P <0.001), while "more severe" increased (+115%, P <0.001). In multiple regression analysis, MP at TRC closure was the only significant risk factor associated with a "more severe" FHS at final follow-up ( P =0.03). Receiver operating characteristic curve analysis determined MP≥30.5% to be associated with a "more severe" FHS at final follow-up ( P <0.009). The FHS was not affected by reconstructive surgery, sex, GMFCS level, or intrathecal baclofen use. "Less severe" hips had lower Tönnis grades (0 to 1) compared with "more severe" hips (Tönnis grades 2 to 3) at final follow-up ( P <0.001). CONCLUSIONS: FHS at skeletal maturity was not influenced by prior reconstructive surgery but was negatively affected when MP≥30.5% at the time of TRC closure. The extent of residual femoral head deformity correlated with the severity of osteoarthritis at final follow-up. LEVEL OF EVIDENCE: Level III.

Growth Modulation by Tension Band Plate in Achondroplasia With Varus Knee Deformity: Comparison of Gait Analysis Measurements.

BACKGROUND: Limited evidence exists concerning growth modulation by tension band plate (TBP) to correct varus deformity in patients with achondroplasia with limited growth due to FGFR3 gene mutation. We evaluated the efficacy of TBP in children with achondroplasia with genu varum and reported the static radiographic and dynamic motion data to determine parameters that impact the rate of deformity correction. METHODS: Patients with achondroplasia with genu varum who underwent TBP surgery for growth modulation were studied. Those with at least 1 year of follow-up with TBP were included. Radiographic parameters were measured. Growth velocity of femoral/tibial length was calculated separately. Patients were deemed successful or unsuccessful. Spearman correlation analysis and Student t test were used to describe statistical results. RESULTS: Twenty-two patients (41 limbs; 12 girls) fulfilled our criteria. Mean age at TBP surgery was 7.6±2.4 years. Thirty-six femoral TBP and 41 tibial TBP were in place for 24.5±9.7 months. Mean mechanical axis deviation, mechanical lateral distal femoral angle, and medial proximal tibial angle preoperatively were 30.1±7.6 mm, 97.2±6.4, and 80.3±4.3 degrees, and 11±15.6 mm, 87.4±5.9, and 84.7±5.3 degrees at last follow-up ( P <0.001). Fifteen limbs were successfully straightened; 4 limbs were in more varus than the initial deformity. Twenty-four limbs with TBP were still undergoing correction. In successful limbs, mean age at surgery was 6.5±1.7 years and duration of TBP was 29.9±7.8 months. In 4 unsuccessful limbs, mean age at surgery was 11.7±1.2 years. Analysis in the gait laboratory included physical examination with the measurement of knee varus and kinematic varus based on a posterior view static standing photograph. Photographic measurement of varus was higher than the radiographic measurement. CONCLUSIONS: Growth modulation by TBP surgery is a reliable and simple technique to correct genu varum in achondroplasia. An early age at TBP implementation (mean: 6.5 y) is crucial to successfully correct the varus knee deformity. Furthermore, we recommend early and regular surveillance of achondroplasia for progressive varus knee deformity. LEVEL OF EVIDENCE: Level IV-cohort study.

Hip Displacement Does Not Change After Pelvic Obliquity Correction During Spinal Fusion in Children With Cerebral Palsy.

BACKGROUND: Children with cerebral palsy (CP) frequently develop both neuromuscular hip dysplasia and scoliosis, and occasionally, the timing of the worsening of both of these pathologies is concurrent. The question as to whether the hip or spine should be addressed first in CP remains controversial, with the majority of evidence being "expert opinion." The purpose of this project was to determine the impact of posterior spinal fusion (PSF) on the change in hip displacement for children with CP without previous reconstructive hip surgery. METHODS: This was an Institutional Review Board-approved study that observed 67 patients from 2004 to 2018. Inclusion criteria included children with CP, 18 years of age and younger, Gross Motor Function Classification System IV and V, undergoing PSF at a single tertiary care children's hospital with a minimum 2-year follow-up. The primary outcome was the change in hip displacement as quantified by the migration percentage (MP). The hip with the highest MP (worst hip) at the spine preoperative analysis were included for analysis. Triradiate cartilage (TRC) status and pelvic obliquity correction were analyzed with multivariate analysis. RESULTS: Sixty-seven patients were included for analysis, with a mean age of 12.5±2.3 years. The mean major curve angle of the major curve was 77±23 degrees and the mean preoperative pelvic obliquity was 21±12 degrees. There was no statistically significant change in MP after PSF from a mean preoperative value of 41±27%, to a mean postoperative value of 41±29% at the last follow-up, (P=0.76) The mean follow-up time was 4.1±2.7 years. TRC status (P=0.52) and the severity of pelvic obliquity (P=0.10) did not statistically impact the change in MP after PSF. CONCLUSION: PSF did not influence-either negatively or positively-the progression of hip displacement in children with CP, regardless of pelvic obliquity correction or TRC status. The lack of deterioration in hip displacement post-PSF, however, may suggest a protective effect of spine surgery. LEVEL OF EVIDENCE: Level III-retrospective cohort study.

Prevalence and Etiology of Community- and Hospital-Acquired Pneumonia in Saudi Arabia and Their Antimicrobial Susceptibility Patterns: A Systematic Review.

(1) Background and Objectives: Pneumonia is a major cause of morbidity and mortality worldwide, including in Saudi Arabia, and the prevalence and etiology of the disease varies depending on the setting. The development of effective strategies can help reduce the adverse impact of this disease. Therefore, this systematic review was conducted to explore the prevalence and etiology of community-acquired and hospital-acquired pneumonia in Saudi Arabia, as well as their antimicrobial susceptibility. (2) Materials and Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 recommendations were followed for this systematic review. Several databases were used to perform a thorough literature search, and papers were then assessed for eligibility by two independent reviewers. The Newcastle-Ottawa Scale (NOS) was used to extract the data from the relevant research and evaluate its quality. (3) Results: This systematic review included 28 studies that highlighted the fact that gram-negative bacteria, particularly Acinetobacter spp. and Pseudomonas aeruginosa, were the common cause of hospital-acquired pneumonia, while Staphylococcus aureus and Streptococcus spp. were responsible for community-acquired pneumonia in children. The study also found that bacterial isolates responsible for pneumonia showed high resistance rates against several antibiotics, including cephalosporins and carbapenems. (4) Conclusions: In conclusion, the study found that different bacteria are responsible for community- and hospital-acquired pneumonia in Saudi Arabia. Antibiotic resistance rates were high for several commonly used antibiotics, highlighting the need for rational antibiotic use to prevent further resistance. Moreover, there is a need to conduct more regular multicenter studies to assess etiology, resistance, and susceptibility patterns of pneumonia-causing pathogens in Saudi Arabia.

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian dysfunction in females who have a 46, XX karyotype. Since the initial clinical description of Perrault syndrome 70 years ago, the phenotype of some subjects may additionally involve developmental delay, intellectual deficit and other neurological disabilities, which can vary in severity in part dependent upon the genetic variants and the gene involved. Here, we review the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, RMND1, TWNK) associated with Perrault syndrome. Variants of these eight genes only account for approximately half of the individuals with clinical features of Perrault syndrome where the molecular genetic base remains under investigation. Additional environmental etiologies and novel Perrault disease-associated genes remain to be identified to account for unresolved cases. We also report a new genetic variant of CLPP, computational structural insight about CLPP and single cell RNAseq data for eight reported Perrault syndrome genes suggesting a common cellular pathophysiology for this disorder. Some unanswered questions are raised to kindle future research about Perrault syndrome.

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.

Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates.

BACKGROUND: Growth modulation using tension band plates (TBPs) is increasingly important for lower limb deformity correction in patients with skeletal dysplasia (SKD). Development of rebound deformity is a concern after TBP removal. Data regarding this complication are rare; therefore, we evaluated the prevalence and risk factors for rebound deformity in children with SKD undergoing correction of genu valgum using TBP. METHODS: All patients with SKD with genu valgum treated by TBP at the distal femur or/and proximal tibia at a single center were reviewed. Inclusion criteria were: (1) minimum 2-year follow-up after TBP removal or having revision surgery for rebound deformity and (2) implant removal age for girls 14 years and below and boys 16 years and below. Exclusion criteria were any femoral/tibial osteotomies during TBP treatment or follow-up. A change of ≥3 degrees of mechanical lateral distal femoral and/or medial proximal tibial angle was accepted as rebound deformity and analyzed statistically. RESULTS: Thirty-three patients (59 limbs; 52 femur and 29 tibia physes) met our criteria. Mean follow-up after implant removal was 43.7 months. Rebound deformities were seen in 43 limbs (39 femurs and 13 tibias). Boys had more rebound than girls; however, this was not influenced by body mass index. Femurs had more rebound than tibias. Patients in the rebound group were younger than the nonrebound group. Time from application to removal of TBP was shorter in the rebound versus nonrebound group. Overcorrected limbs had more rebound deformity than not overcorrected. The difference in growth velocity of lower limbs in the rebound versus nonrebound group was statistically significant. Patients with epiphyseal dysplasia had more rebound than metaphyseal dysplasia, but this was not statistically significant. CONCLUSION: Risk factors for developing a rebound deformity after correction of genu valgum using TBP in SKD included male sex, TBP surgery at a young age, short duration of TBP implantation, overcorrected extremity (mechanical axis deviation ≤1), and high percent growth velocity after TBP removal. LEVEL OF EVIDENCE: Level IV-retrospective study.

Applications and Error Ratios of Calibration Techniques in EOS, Orthoroentgenogram, and Teleoroentgenogram for Length Measurement: A Comparative Study.

BACKGROUND: Accurate length measurements of extremity bones are essential in treating limb deformities and length discrepancies in children. OBJECTIVE: This study aimed to determine errors in common techniques used to measure lower limb lengths in children. METHODS: Precision and instrument errors in length measurements were studied utilizing electro-optical system (EOS), orthoroentgenogram, and teleoroentgenogram The goal was to measure a 70-cm metallic rod phantom (average length of the lower extremity of a 10-year-old boy in the 50th percentile) in 3 phases. In Phase 1, the length measurements were performed in an EOS unit with internal calibrations, a magball/magstrip in various scan positions, and measurement with TraumaCAD software. In Phase 2, the measurements were repeated utilizing a single radiation "shot" teleoroentgenogram. In Phase 3, an orthoroentgenogram was utilized with a radiopaque ruler reference. The reliability and validity of measurements were calibrated by 4 physicians (a radiologist, senior orthopaedic attending, and 2 orthopaedic fellows). RESULTS: EOS measurements utilizing internal references had excellent accuracy (for a 700-mm real length, magnification error (ME)] of 0.09%. Teleoroentgenogram with a magball reference and measurements performed with automatic calibration by TraumaCAD program results in ME of 1.83% with insignificant intraobserver/interobserver difference. Teleoroentgenogram with a magball or magstrip reference measured manually showed that the magball has higher intraobserver/interobserver variance than magstrip, with a 6.60 and 0.33-mm SD, respectively. The length by manual measurement utilizing the magstrip has ME of 2.21%. Orthoroentgenogram is accurate with ME of 0.26%, but does not allow anatomical analysis and is also radiation-costly. CONCLUSION: EOS and orthoroentgenogram are very accurate for length measurements. Teleoroentgenogram is less accurate in measuring length; however, addition of an external reference (magball, magstrip) placed lateral to the target improves accuracy. Automatic calibration with computer-based analysis of the external reference improves the accuracy more than manual calibration. If manual calibration is utilized, the length measurement is less accurate with the magball than the magstrip. LEVEL OF EVIDENCE: Level II-comparative in vitro study.

Elongation-Derotation-Flexion Casting Treatment of Early-Onset Progressive Scoliosis in Skeletal Dysplasia.

BACKGROUND: Early-onset scoliosis in children with skeletal dysplasia is progressive, contributing to cardiopulmonary restrictive disease. Serial elongation-derotation-flexion (EDF) casting, used in other etiologies of scoliosis to delay curve progression, may be beneficial in maximizing spine growth. Our hypothesis is serial EDF casting can be safely used as a temporary alternative to surgery, delaying progression and preserving growth, to treat scoliosis in skeletal dysplasia. METHODS: All patients with skeletal dysplasia treated at a single institution with serial EDF casting for scoliosis were reviewed retrospectively. Radiographic parameters: Cobb angle of major and minor curves, curve location, thoracic height, thoracolumbar height, space available for lung, and rib vertebra angle difference were measured before casting (C1), in first casting (C2), in last casting (C3), and out of last casting (C4). Peak inspiratory pressure (PIP) values were monitored and recorded during the casting application. RESULTS: Eleven patients met the inclusion criteria (mean 9.7 castings). The mean duration of EDF serial casting was 35 months. The mean major Cobb angles were 54 degrees° (C1), 30 degrees (C2), 37 degrees (C3), and 49 degrees (C4) with no statistically significant differences. The mean minor Cobb angles were 35 degrees (C1), 25 degrees (C2), 33 degrees (C3), and 51 degrees (C4) with no statistically significant differences. The mean thoracic heights were 130 mm (C1), 155 mm (C2), 173 mm (C3), and 160 mm (C4). The 19-mm mean difference between C2 and C3 represents spinal growth. The PIP-1, PIP-2, and PIP-3 mean values were 15, 27, and 18 cmH2O, respectively. Changes in PIP-1 and PIP-2 and PIP-2 and PIP-3 were statistically significant. CONCLUSION: Serial EDF casting can delay surgical scoliosis correction in children younger than 7 years with a diagnosis of skeletal dysplasia. Our study showed that serial casting controls progression of the major curve and allows longitudinal growth of the spine with possible expansion of lung volume for nearly 3 years. During cast application, PIP increased with molding and traction, and improved until windowing and trimming of the cast. LEVEL OF EVIDENCE: Level IV-retrospective study.

Predictors of Rod Length Gain and Sagittal Alignment Change After Magnetically Controlled Growing Rod Lengthening.

STUDY DESIGN: This was a retrospective cohort study. OBJECTIVE: There are preoperative characteristics that predict rod lengthening of magnetically controlled growing rods (MCGR). The lengthening of MCGR will lead to increased kyphosis. SUMMARY OF BACKGROUND DATA: The amount of length gained by MCGR is variable, and predictors are lacking. Similarly, sagittal plane changes over the MCGR lengthening period have not been investigated. MATERIALS AND METHODS: Patients with MCGR and a minimum 2-year follow-up were identified and those with previous spine surgery were excluded. Preimplantation, postimplantation, and last follow-up postlengthening radiographs were examined. Multiple linear regression analyses were used for rod length gain predictors. RESULTS: Fifty-six patients with early-onset scoliosis met inclusion criteria: nine idiopathic, five congenital, 14 neuromuscular, 20 syndromic, and eight skeletal dysplasia patients. No difference was seen between subtypes of early-onset scoliosis for rod length gain ( P =0.62). Shorter preoperative T1-T12 height and higher curve correction rate after implantation were significant predictors for rod length gain ( P <0.001). Preoperative major curve magnitude and kyphosis were not significant predictors. Flattening of the spine around the actuator and compensative increase in T1-T5 kyphosis were seen secondarily after MCGR implantation. Maximum sagittal kyphosis, T1-T5 kyphosis, and T5-T12 kyphosis did not change during lengthening. Lumbar lordosis significantly decreased postimplantation (first erect) but then increased during lengthening. Pelvic incidence and sacral slope both increased during lengthening, but this may be age related. CONCLUSION: Patients who gained the most rod length with MCGR were those with an initially shorter T1-T12 height and better initial curve correction at implantation, likely representing that implants work best in small patients with flexible curves. Diagnosis, preoperative curve magnitude, and thoracic kyphosis were not related to rod length gain. Thoracic kyphosis did not deteriorate over the lengthening phase. LEVEL OF EVIDENCE: Level III-retrospective cohort study.

The Role of Liposomal Bupivacaine in Multimodal Pain Management Following Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis: Faster and Farther With Less Opioids.

STUDY DESIGN: Retrospective controlled cohort. OBJECTIVE: To evaluate the effect of intraoperative liposomal bupivacaine (LB) infiltration on postsurgical pain management in adolescent idiopathic scoliosis (AIS) patients by analyzing postoperative opioid consumption, ambulation, and length of stay (LOS). SUMMARY OF BACKGROUND DATA: Optimal postoperative pain control for AIS patients undergoing posterior spinal fusion (PSF) is challenging. Multimodal pain management protocols provide adequate analgesia while decreasing opioid consumption. LB was recently approved for pediatric patients; however, use in AIS patients is understudied. METHODS: 119 consecutive patients with AIS who underwent PSF were included. Patients were divided into 2 groups: patients who received LB as erector spinae block in addition to the standard postoperative pain management protocol (Group A), and patients who received only the standard postoperative pain protocol (Group B). Oral morphine equivalents, intravenous opioid and valium consumption, pain scores (VAS), nausea/vomiting, ambulation distance and LOS were assessed. RESULTS: Group A experienced significantly lower total opioid consumption compared to Group B (44.5 mg vs. 70.2 mg). Morphine use was lower in Group A on postoperative day (POD) 0, and oxycodone use was lower in Group A on PODs 1 and 2. There was a higher proportion of patients who used only oral opioids in Group A (81% vs. 41%). Of patients requiring any intravenous opioids, 79% did not receive LB. A significantly higher proportion of LB patients were discharged on POD 2 (55% vs. 27%); therefore, LOS was shorter for Group A. Group A ambulated further postoperatively. There were no differences in pain scores, valium requirements or nausea/vomiting. CONCLUSIONS: LB was associated with decreased total opioid use, shorter LOS, and improved ambulation in AIS patients undergoing PSF. Including LB in multimodal pain management protocols proved effective in reducing opioid use while increasing mobilization in the immediate postoperative period. LEVEL OF EVIDENCE: 3.

Graves' disease post-COVID-19 m-RNA vaccine in pediatric age group.

The surge of the COVID-19 pandemic (December / 2019 - May/2023) and its catastrophic effect worldwide have necessitated emergent intervention to reduce its influence on people's health and life. To eliminate and reduce the impact of COVID-19 infection, COVID-19 vaccination was emergently authorized in December 2020 which has established good safety and efficacy. Having said that, some adverse effects merged in a few individuals. We are reporting an adolescent patient a 17-year-old female who has been diagnosed with Graves' disease after post-COVID-19 vaccinations. In addition, she was a confirmed case of COVID-19 infection three months earlier. The patient presented with typical features of hyperthyroidism 30 days post receiving the first dose of the vaccination. Based on the patient's presentation relative to the administration of the vaccine and prior infection of the virus. We proposed the synergistic effect of both factors to induce Graves' disease in this young healthy female with no family history of autoimmune disease. We are reporting this case for pediatric endocrinologists to be aware of the interaction and possible impact of the COVID-19 vaccine on thyroid function.

Short-term side effects of BNT162b2 vaccine in primary care settings in Qatar: a retrospective study.

Background: Despite the established effectiveness of the BNT162b2 Vaccine, the novel technology demands careful safety monitoring. While global studies have explored its safety, local data remains limited and exhibits some variability. This study investigated short-term side effects among BNT162b2 vaccinated individuals in Qatar. Methods: A retrospective analysis was conducted using data extracted from the electronic health records of individuals aged 18 or older across 8 primary health centers who received either the first or second dose of the BNT162b2 vaccine during the period from December 23, 2020, to April 24, 2021. The proportions of individuals experiencing short-term side effects after each dose were calculated. Logistic regression and log binomial regression analyses were used to explore associations with the side effects. Results: Among 7,764 participants, 5,489 received the first dose and 2,275 the second, with similar demographics between the groups. After the first dose, 5.5% reported at least one local side effect, compared to 3.9% after the second, with a 1.4 times higher incidence after the first dose (RR 1.4, 95% CI 1.14-1.75) compared to the second. Systemic side effects after the second dose were 2.6 times more common than after the first (RR 2.6, 95% CI 2.15-3.14). Gender, nationality, history of prior COVID-19 infection, and obesity were significantly associated with side effects after the first dose, while age, gender, and nationality, were significant factors after the second dose. Conclusion: The rates of side effects following the BNT162b2 vaccine in Qatar were relatively low, with age, gender, nationality, previous infection, and obesity identified as significant predictors. These results emphasize the need for tailored vaccination strategies and contributes valuable insights for evidence-based decision-making in ongoing and future vaccination campaigns.

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Intellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.764dupA, NM_032291.4) and a splice donor site variant (c.74 + 1G > A, NM_032291.4) in the SGIP1 gene.

Comparison of the effects of two different styles of orally prescribing prednisolone on postoperative sequelae of surgical extraction of an impacted mandibular third molar: a single-blind randomized study.

Objectives: Surgical intervention for removal of an impacted third molar can lead to significant pain and swelling. Corticosteroids show promise for mitigating postoperative sequelae across various surgical contexts. The use of corticosteroids following minor oral surgery, though controversial, has already been proven effective. However, little research has explored peroral prescription of corticosteroids despite its convenience for outpatients and for non-surgeons like implantologists and periodontists and others who don't have access to needle injections. The aim of this study was to address a void in the literature by comparing the effects of two styles of preoral administration of prednisolone after surgical removal of the mandibular third molar and to determine which style minimizes postoperative sequelae. Materials and Methods: A randomized, split-mouth clinical study was conducted to investigate the efficacy of two different styles of preoral prednisolone in mitigating postoperative sequelae following surgical extraction of impacted mandibular third molars. Fifteen participants were enrolled in the study. Random selection was used to determine the prescription style for the right and left mandibular arch. Group A included those who received a single dose of prednisolone 25 mg, while group B received prednisolone 5 mg postoperatively for a period of three days (5 mg three times/day on the first postoperative day, 5 mg twice/day on the second postoperative day; 5 mg once/day on the third postoperative day). Results: There was a significant difference in the distance between the corner of the mouth and tragus, which decreased with the time interval with respect to group B when compared to group A. Conclusion: The present study showed that a three-day tapered dose of prednisolone postoperatively was more effective in reducing post-extraction sequelae than a single-dose regimen.