An Alternative Non-Invasive Screening Model for Liver Fibrosis among US Adults at Risk of MASLD.

Background and Aims: Screening for liver fibrosis presents a clinical challenge. This study aimed to explore a useful alternative method for assessing fibrosis risk among US adults at risk of metabolic dysfunction-associated steatotic liver disease (MASLD). Methods: A liver stiffness score (LSS) model was proposed and tested using data from 3976 participants at possible risk of MASLD, obtained from the US National Health and Nutrition Examination Survey (NHANES). Results: The LSS model was developed using liver stiffness measurements, blood biochemistry, and body measurement data from 2414 NHANES participants at risk of MASLD, sampled between 2017 and 2020: LSS = exp(0.007035 × bodyweightkg - 0.1061 × raceblack1,0 + 0.183221 × diabetes1,0 + 0.008539 × ASTIU/L - 0.0018 × plateletcount1000cell/UL - 0.21011 × albuming/dL + 2.259087). The probability (P) of having fibrosis F3 + F4 is calculated as follows: P = 0.0091 × LSS2 - 0.0791 × LSS + 0.1933. The developed LSS model was tested on 1562 at-risk participants from the 2017-2018 cycle. The results showed that the LSS model achieved AUROC values of 0.79 and 0.78 for diagnosing cirrhosis (F4) and advanced fibrosis (F3 + F4) in the US population, respectively. It outperformed existing models such as NFS, FIB-4, SAFE, and FIB-3. For screening F3 + F4 fibrosis, the LSS model's top decile outperformed the NFS and FIB-4 models by 37.7% and 42.6%, respectively. Additionally, it showed superior performance compared to the waist circumference classification method by 29.5%. Conclusions: derived from an ethnically diverse population dataset, the LSS screening model, along with its probability equation, may offer clinicians a valuable alternative method for assessing the risk of liver fibrosis in the at-risk adult population.

Systematic review and meta-analysis of Chinese coach leadership and athlete satisfaction and cohesion.

Introduction: This meta-analysis investigates the relationship between coach leadership behaviors and athlete satisfaction and group cohesion within the realm of Chinese sports. The study also explores player sex and player classification as potential moderating variables. The primary focus is on evaluating the impact of coaching behaviors, as measured by the Leadership Scale for Sports, on athlete satisfaction and group cohesion. Methods: Standard literature searches from China National Knowledge Infrastructure and Wanfang academic databases produced 26 studies encompassing a total of 319 effect sizes and a participant pool of 7,121 athletes across various sports. Results: Using the Comprehensive Meta-Analysis (CMA) to examine relevant data, results reveal a moderate and positive association between coach leadership and athlete satisfaction (ES = 0.412). Specifically, training and instruction (ES = 0.531), positive feedback (ES = 0.526), social support, and democratic decision-making exhibit positive effects, while autocratic behavior demonstrates a marginal positive effect. Similarly, a moderate positive relationship is identified between coach leadership and overall group cohesion (ES = 0.275), with training and instruction (ES = 0.396), social support (ES = 0.356), positive feedback, and democratic behavior positively influencing cohesion. Conversely, autocratic behavior has a small negative impact on cohesion. Furthermore, female athletes (ES = 0.603) and professional players (ES = 0.544) display stronger positive associations between coach leadership and satisfaction. Conclusion: These findings highlight the significance of diverse coaching behaviors aligned with player characteristics for fostering positive athlete satisfaction and group cohesion within the Chinese sports context, offering valuable guidance to Chinese coaches aiming to enhance their coaching strategies.

MRI parameters predict central lumbar spinal stenosis combined with redundant nerve roots: a prospective MRI study.

Background: To observe changes in the cauda equina nerve on lumbar MRI in patients with central lumbar spinal stenosis (LSS). Methods: 878 patients diagnosed with LSS by clinical and MRI were divided into the redundant group (204 patients) and the nonredundant group (674 patients) according to the presence or absence of redundant nerve roots (RNRs). The anteroposterior diameter of the spinal canal (APDS) and the presence of multiple level stenosis, disc herniation, thickening of ligamentum flavum (LF) and increased epidural fat were assessed on MRI. Univariate and multivariate logistic regression analyses were performed to explore the predictors of LSS combined with RNRs. Results: Patients with LSS combined with RNRs had thicker epidural fat, smaller APDS and more combined multifaceted stenosis. Female patients and older LSS patients were more likely to develop RNRs; there was no difference between two groups in terms of disc herniation (p > 0. 05). Age, APDS, multiple level stenosis, and increased epidural fat were significantly correlated with the formation of LSS combined with RNRs (p < 0.05). Conclusion: A smaller APDS and the presence of multiple level stenosis, thickening of LF, and increased epidural fat may be manifestations of anatomical differences in patients with LSS combined with RNRs. Age, APDS, multiple level stenosis, and increased epidural fat play important roles. The lumbar spine was measured and its anatomy was observed using multiple methods, and cauda equina changes were assessed to identify the best anatomical predictors and provide new therapeutic strategies for the management of LSS combined with RNRs.

Response Surface Methodology Optimization of Resistance Welding Process for Unidirectional Carbon Fiber/PPS Composites.

The use of thermoplastic composites (TPCs) as one of the lightweight solutions will inevitably encounter problems in connection. Resistance welding has the characteristics of high strength, simplicity, and high reliability, and is considered a very potential hot-melt connection technology. The resistance welding technology of unidirectional carbon fiber-reinforced polyphenylene sulfide composites (UCF/PPS) was systematically studied. The experimental results show that the 100-mesh brass mesh has the best resin wetting effect and heating efficiency, and the PPS/oxidized 100-mesh brass mesh composite resistance element (Ox-RE/PPS) has the highest welding strength. The welding failure mode changes from interface failure and RE failure to interlayer structure damage and fiber fracture. The single-factor experimental results show that the maximum welding strength is reached at 310 °C, 1.15 MPa, and 120 kW/m2. According to the conclusion of the single-factor experiment, the Box-Behnken method was further used to design a three-factor, three-level experiment, and a quadratic regression model was established according to the test results. The results of variance analysis, fitting curve analysis, and perturbation plot analysis proved that the model had high fitting and prediction abilities. From the 3D surface diagram analysis, the influence of power density is the largest, and the interaction between welding temperature and power density is the most significant. Combined with the analysis of Design Expert 13 software, the optimal range of process parameters was obtained as follows: welding temperature 313-314 °C, welding pressure 1.04-1.2 MPa, and power density 124-128 kW/m2. The average strength of resistance welding joints prepared in the optimal range of process parameters was 13.58 MPa.

Optical and molecular features of negatively curved surfaces created by POPE lipids: A crucial role of the initial conditions.

Membrane fusion is closely related to plasma membrane domains rich in cone-shaped phosphatidylethanolamine (PE) lipids that can reverse membrane curvature under certain conditions. The phase transition of PE-based lipid membranes from the lamellar fluid phase (Lα) to the inverse hexagonal phase (HII) is commonly taken as a general model in reconstructing the membrane fusion pathway, and whose structural features have been mostly described so far using structural and microscopic techniques. The aim of this paper is to decipher the optical and molecular features of Lߠ→ Lα and especially of Lα â†’ HII transition of 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphoethanolamine (POPE) lipids at pH = 7.0 when they are initially prepared in the form of both multi- and unilamellar liposomes (MLVs and LUVs). The distinction between optical properties of MLS- and LUVs-derived HII phase, provided from turbidity-sensitive temperature-dependent UV-Vis spectra, was attributed to different formation mechanisms of HII phase. Most importantly, from FTIR spectroscopic data of POPE lipids in Lß (15 °C), Lα (50 °C) and HII (85 °C) phases we identified the changes in molecular features of POPE lipids during phase transitions. Among the latter, by far the most significant is different hydration pattern of POPE lipids in MLVs- and LUVs-derived HII phase which extends from the polar-apolar interface all the way to the terminal amino group of the POPE lipid, along with the changes in the conformation of glycerol backbone as evidenced by the signature of α-methylene groups. Molecular dynamics simulations confirmed higher water penetration in HII phase and provided insight into hydrogen bonding patterns.

Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants.

Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase (LSS) gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is characterized by congenital alopecia and variable degrees of intellectual disability (ID), frequently associated with developmental delay (DD) and epilepsy. Currently, only three studies regarding LSS-related APMR4 have been reported, the pathogenesis of APMR4 is poorly understood. We studied one patient with LSS-related APMR4 who presented with severe intellectual disability, alopecia, early-onset epilepsy and developmental delay. She is absence of hair on the eyebrows, eyelashes, and scalp. Two novel LSS variants (c.401 T > G and c.369C > G) were detected with whole-exome sequencing (WES). Analysis via WB experiment indicated that c.369 > G reduced the protein expression level of LSS. Analysis of protein stability prediction showed a destabilizing for LSS caused by the variant c.401 T > G. This study is the first study in Asia to date. These findings expanded the variantal spectrum of LSS-related APMR4 and revealed the potential pathogenic mechanism of LSS gene variants.

Improved Bending Strength and Thermal Conductivity of Diamond/Al Composites with Ti Coating Fabricated by Liquid-Solid Separation Method.

In response to the rapid development of high-performance electronic devices, diamond/Al composites with high thermal conductivity (TC) have been considered as the latest generation of thermal management materials. This study involved the fabrication of diamond/Al composites reinforced with Ti-coated diamond particles using a liquid-solid separation (LSS) method. The interfacial characteristics of composites both without and with Ti coatings were evaluated using SEM, XRD, and EMPA. The results show that the LSS technology can fabricate diamond/Al composites without Al4C3, hence guaranteeing excellent mechanical and thermophysical properties. The higher TC of the diamond/Al composite with a Ti coating was attributed to the favorable metallurgical bonding interface compounds. Due to the non-wettability between diamond and Al, the TC of uncoated diamond particle-reinforced composites was only 149 W/m·K. The TC of Ti-coated composites increased by 85.9% to 277 W/m·K. A simultaneous comparison and analysis were performed on the features of composites reinforced by Ti and Cr coatings. The results suggest that the application of the Ti coating increases the bending strength of the composite, while the Cr coating enhances the TC of the composite. We calculate the theoretical TC of the diamond/Al composite by using the differential effective medium (DEM) and Maxwell prediction model and analyze the effect of Ti coating on the TC of the composite.

Decentralized stabilization of large-scale linear parameter varying systems.

In stabilization of a Large-Scale System (LSS), the decentralized nature of the controller is a significant issue, because centralized controllers are difficult and impractical for real-time implementation. The designing procedure for decentralized controllers should guarantee the stability of the overall LSS and at the same time, allow limited information exchange in the LSS. In this paper, a decentralized controller for a nonlinear LSS modeled by a Linear Parameter Varying (LPV) model is designed. The controller design procedure is formulated as a convex feasibility problem which can be solved by finding a feasible answer to some Linear Matrix Inequalities (LMIs). The solution to this feasibility problem assures a fully decentralized controller where information exchange among local controllers is forbidden and, only data transfer among each controller and its corresponding subsystem is allowed. In the proposed approach, the Lyapunov function of the LSS equipped with local controllers is considered as the sum of the Lyapunov functions of all subsystems. Then, the stability conditions are derived to assure the stability of the LSS. After designing a decentralized controller to ensure LSS stability, the same approach is exploited for H∞ and H2 performance improvement of the LSS in the presence of disturbances. To verify the efficacy of the designed controller, a large-scale power system which is a practical example is considered, and the proposed approach is applied on it. The simulation results prove the appropriateness of the designed local controllers.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Leigh syndrome spectrum (LSS) is a primary mitochondrial disorder defined neuropathologically by a subacute necrotizing encephalomyelopathy and characterized by bilateral basal ganglia and/or brainstem lesions. LSS is associated with variants in several mitochondrial DNA genes and more than 100 nuclear genes, most often related to mitochondrial complex I (CI) dysfunction. Rarely, LSS has been reported in association with primary Leber hereditary optic neuropathy (LHON) variants of the mitochondrial DNA, coding for CI subunits (m.3460G>A in MT-ND1, m.11778G>A in MT-ND4 and m.14484T>C in MT-ND6). The underlying mechanism by which these variants manifest as LSS, a severe neurodegenerative disease, as opposed to the LHON phenotype of isolated optic neuropathy, remains an open question. Here, we analyse the exome sequencing of six probands with LSS carrying primary LHON variants, and report digenic co-occurrence of the m.11778G > A variant with damaging heterozygous variants in nuclear disease genes encoding CI subunits as a plausible explanation. Our findings suggest a digenic mechanism of disease for m.11778G>A-associated LSS, consistent with recent reports of digenic disease in individuals manifesting with LSS due to biallelic variants in the recessive LHON-associated disease gene DNAJC30 in combination with heterozygous variants in CI subunits.

Influence of Accuracy and Precision of Measurements of Long Bone Tumors in Imaging Studies-A Retrospective Study in Musculoskeletal Oncology.

The aim of this study is to evaluate the level of accuracy and precision of bone scan (BS), MRI, and digital radiography (DR) to measure long bone tumors to design custom-made prosthesis (CMP)/modular prosthesis (MP) in limb salvage surgery (LSS) with the help of phantom and patient's study. There are two separate groups: one is the phantom study and another one is the patient's study. The phantom study is done with the Jaszack Phantom for the Gamma camera and the indigenous phantom for the MRI and DR. Three independent imaging professionals (nuclear medicine physicians and radiologists) measured the distance between standardized, preselected points on the Jaszack phantom in the Gamma Camera (GC) and indigenous phantom on the coronal and sagittal view of the MRI scan and in digital radiography. The measured values were compared with the known values for phantom measurement. A total of 36 patients, which include 24 males and 12 females, 3 independent imaging professionals measured the patient's long bone in a bone scan, MRI and DR and compared it with histopathological specimen measurement after limb salvage surgery (LSS). Descriptive statistics using appropriate measures of central tendency and dispersion were employed to describe the data. Karl-Pearson correlation coefficient was used to establish the association between continuous covariates. Paired t-test was utilized to test the differences in paired values for statistical significance. A near-perfect positive correlation was evident between all three pairs of bone scan, MRI scan, and digital radiography values, and a positive agreement within 1 mm of the bone scan, MRI scan, and DR values of all three pairs was around 95%. For the phantom study, we conclude that Gamma camera and MRI measurements are equal in physical measurements (MCF-1). DR measurements were found to be near equal physical measurements and multiplication correction factor (MCF)-0.9104 and three observer's measurements values were also near normal. For the patient's study, we conclude that the bone scan, MRI, and DR measurements of 3 independent imaging professionals are near normal, and it was confirmed with pathological specimen after LSS, to confirm reliability, repeatability, reproducibility, and accuracy of the tumor length to do custom-made prosthesis or modular prosthesis for the patients who are affected by osteosarcoma and Ewing's sarcoma.

Perspective: Efficacy and outcomes for different lumbar interspinous devices (ISD) vs. open surgery to treat lumbar spinal stenosis (LSS).

Background: Interspinous devices (ISD) constitute a minimally invasive (MI) alternative to open surgery (i.e., laminectomy/decompression with/without fusion (i.e., posterior lumbar interbody fusion (PLIF)/posterolateral instrumented fusion (PLF)) for treating lumbar spinal stenosis (LSS). Biomechanically, static and/or dynamic ISD "offload" pressure on the disc space, increase intervertebral foraminal/disc space heights, reverse/preserve lordosis, limit range of motion (ROM)/stabilize the surgical level, and reduce adjacent segment disease (ASD). Other benefits reported in the literature included; reduced operative time (OR Time), length of hospital stay (LOS), estimated blood loss (EBL), and improved outcomes (i.e., ODI (Oswestry Disability Index), VAS (Visual Analog Scale), and/or SF-36 (Short-Form 36)). Methods: Various studies documented the relative efficacy and outcomes of original (i.e., Wallis), current (i.e., X-STOP, Wallis, DIAM, Aperius PercLID), and new generation (i.e., Coflex, Superion Helifix, In-Space) ISD used to treat LSS vs. open surgery. Results: Although ISD overall resulted in comparable or improved outcomes vs. open surgery, the newer generation ISD provided the greatest reductions in critical cost-saving parameters (i.e., OR time, LOS, and lower reoperation rates of 3.7% for Coflex vs. 11.1% for original/current ISD) vs. original/current ISD and open surgery. Further, the 5-year postoperative study showed the average cost of new generation Coflex ISD/decompressions was $15,182, or $11,681 lower than the average $26,863 amount for PLF. Conclusion: Patients undergoing new generation ISD for LSS exhibited comparable or better outcomes, but greater reductions in OR times, EBL, LOS, ROM, and ASD vs. those receiving original/current ISD or undergoing open surgery.

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

BACKGROUND: Patients with biallelic variants in the lanosterol synthase (LSS) gene has been reported to exhibit phenotypes as follows: non-syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However, genotype-phenotype correlations in the LSS gene are still not completely clear. METHODS: In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed to elucidate the genetic cause of the patient. RESULTS: We identified compound heterozygous variants (c.296G>A, p.G99D and c.1025T>G, p.I342S) in the LSS gene. Both variants altered the amino acid coding at highly conserved amino acid residues and were predicted to be deleterious using prediction software. CONCLUSION: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.

Investigating the Chemical Composition of Lepidium sativum Seeds and Their Ability to Safeguard against Monosodium Glutamate-Induced Hepatic Dysfunction.

Monosodium glutamate (MSG) is one of the most frequently used food additives that endanger public health. The antioxidant, hyperlipidemic, and cytoprotective properties of Lepidium sativum seeds (LSS) as a natural remedy can minimize the harmful effects of MSG. This study investigated the potential protective effect of LSS against MSG-induced hepatotoxicity in rats. Male albino Sprague Dawley rats (n = 24) were equally divided into four groups for 30 days: the control group (G1) received a basal diet without supplement, group (G2) was fed a basal diet + MSG (30 g/kg b.w.) as a model group, group (G3) was fed a basal diet + MSG (30 g/kg b.w.) + LSS (30 g/kg b.w.), and group (G4) was fed a basal diet + MSG (30 g/kg b.w.) + LSS (60 g/kg b.w.). LSS enhanced serum alkaline phosphatase activity as well as total cholesterol, triglyceride, and glucose levels. It can decrease peroxide content in serum lipids and inhibit glutathione reductase and superoxide dismutase in hepatic cells. The dietary supplementation with LSS provided cytoprotection by enhancing the histoarchitecture of the liver and decreasing the number of apoptotic cells. Due to their antioxidant and anti-apoptotic properties, LSS effectively protect against the hepatotoxicity of MSG. These findings are of the highest significance for drawing attention to incorporating LSS in our food industry and as a health treatment in traditional medicine to combat MSG-induced hepatic abnormalities.

Unilateral Biportal Endoscopic Laminectomy-Bilateral Decompression Using a Monoportal Scope and Bipolar Coagulator for Lumbar Spinal Stenosis: A Technical Report.

The purpose of this study was to introduce the application of a monoportal scope and bipolar coagulator used in full-endoscopic spine surgery (FESS) for unilateral biportal endoscopy-unilateral laminectomy bilateral decompression (UBE-ULBD) in those with central stenosis. A 68-year-old man who presented with cauda equina symptoms underwent UBE-ULBD to improve his central stenosis at the L2/3 level. In this technique, a FESS scope was attached to a camera portal in place of a common arthroscope. A decompression tool was subsequently inserted through the working portal, and the lower border of the vertebral lamina and the lower border of the contralateral lamina were resected. Additionally, the superior border of the L3 level was thinned using a high-speed drill, and the ligament flavum was excised. The operation time was 70 minutes, and his symptoms improved. The patient was discharged from the hospital four days postoperatively. We found three advantages of using a FESS scope and bipolar coagulator, including the ability to 1) stabilize the camera via placement of the sleeve against the bone, 2) minimize the wounded area by irrigating saline on the side of the scope, and 3) provide bipolar tissue hemostasis in an isolated area around the nerves. Therefore, among the UBE techniques, we believe that assisted full-endoscopic spine surgery (AFESS) is a viable option to offer a more minimally invasive surgery for patients with stenosis.

Influence of Spinopelvic Alignment on the Clinical Outcomes Following Decompression Surgery for Lumbar Stenosis.

Introduction The role of sagittal spinopelvic alignment in lumbar spinal stenosis (LSS) patients and its potential influence on post-decompression surgery outcomes is a topic of growing interest. Lumbar spinal stenosis is a prevalent degenerative condition, and with an aging population, the frequency of surgical interventions for LSS has risen. While decompression surgery aims to relieve symptoms, the potential impact of preoperative spinopelvic alignment on postoperative results remains controversial. This study examined the correlation between sagittal spinopelvic parameters and clinical outcomes in LSS patients undergoing decompression surgery. Methods This study included 100 patients with LSS who underwent decompression surgery between 2021 and 2023 and 100 healthy individuals as a control group. The LSS group comprised 50 men and 50 women, with a mean age of 55.8±12.41 years, while the control group consisted of 50 men and 50 women, with a mean age of 55.17±13.39 years. Sagittal spinopelvic alignment parameters, including pelvic tilt (PT), pelvic incidence-lumbar lordosis mismatch, and sagittal vertical axis, were assessed preoperatively. Postoperative clinical outcomes were evaluated using the visual analog scale (VAS) and Oswestry disability index (ODI) scores. Results In the cohort of 200 participants, 100 were diagnosed with lumbar spinal stenosis (LSS), and 100 were healthy controls. Both groups had an equal gender distribution (50 males and 50 females). The mean age was 55.8 (±12.4) years for the LSS group and 55.2 (±13.4) years for the control group. Among the analyzed radiographic parameters, only lumbar lordosis (LL) levels showed a significant difference between groups, notably lower in the LSS group (p=0.020). Preoperative VAS scores in LSS patients averaged 7.58±1.32, which postoperatively dropped to 2.22±1.95 (p<0.001). Similarly, ODI (%) declined from a preoperative average of 55.76±11.65 to 18.62±18.17 postoperatively (p<0.001). Patients with postoperative ODI levels exceeding 20% had higher preoperative scores and significantly altered radiographic measurements. The receiver operating characteristic (ROC) analysis indicated PT as the most predictive radiographic parameter, with an area under the curve (AUC) of 0.945. Multivariate logistic regression pinpointed PT and LL as key predictors associated with increased risks for postoperative Oswestry disability levels exceeding 20%. Conclusion Our study suggests that sagittal spinopelvic alignment plays an important role in the development and progression of LSS. Addressing sagittal alignment may be crucial for achieving optimal clinical outcomes after decompression surgery. Further research is needed to elucidate the mechanisms underlying the relationship between sagittal alignment and LSS.

Exacerbation of Spinal Stenosis Symptoms Following Neuraxial Anesthesia in an Achondroplastic Cesarean Section.

We report the case of an achondroplastic female who presented with acute neurologic decline following epidural anesthesia for an elective cesarean section. Achondroplasia presents unique anatomical challenges to anesthesiologists in perioperative management, and cesarean sections are standard for achondroplastic pregnancies. High rates of spinal stenosis and lumbar radiculopathy in this patient population make administration of epidural analgesia technically challenging and may increase the risk of neurologic injury. Ultrasound is an effective means of administering epidural anesthesia for most patients; however, its utility is user-dependent and more challenging for those with obesity and abnormal spinal anatomy, both of which are common in achondroplasia. Cephalic and thoracic anatomical features in achondroplasia can also make general anesthesia challenging. Therefore, preoperative imaging may help guide preoperative planning based on patient anatomy and individual risk factors to reduce the risks of complications in this patient population. This report includes details from the patient's prenatal care, cesarean section, and 18 months of follow-up.

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.

Cholesterol is essential in the brain from the earliest stages of embryonic development. Disruption of cholesterol synthesis pathways that leads to cholesterol deficiency underlies a few syndromes, including desmosterolosis and Smith-Lemli-Opitz syndrome. In both syndromes, brain anomalies can occur. The LSS gene encodes lanosterol synthase (LSS), an important enzyme in the cholesterol biosynthesis pathway. Biallelic pathogenic variants in this gene cause alopecia-intellectual disability type 4 syndrome (APMR4, MIM 618840), a rare autosomal recessive disorder. Here, we describe two new LSS variants (c.1016C > T; p. Ser339Leu and c.1522G > C; p. Gly508Arg) found in a compound heterozygous fetus diagnosed prenatally with brain abnormalities by ultrasound scanning. Two of his siblings from the same parents also harbored these variants. Both siblings had alopecia, mild intellectual disability, autism spectrum disorder, and cataracts. To the best of our knowledge, this case represents the first prenatal diagnosis of APMR4 first suspected by ultrasound. In addition, the phenotypic features of the siblings are extensive compared with those described in previous reports and include abnormal corpus callosum, cataracts, alopecia, and developmental delay.

Pain Management Interventions in Lumbar Spinal Stenosis: A Literature Review.

Lumbar spinal stenosis (LSS) occurs due to the narrowing of the space within the vertebral canal and or intervertebral foramina. This results in the compression of the spinal cord and possibly the roots of the spinal nerves. Lower back pain and neurogenic claudication (NC) are major symptoms of spinal stenosis. This is a literature review that summarizes the important findings pertaining to pain management of spinal stenosis. Twenty-four original articles were assessed. Pain can be treated through non-invasive or surgical methods. Conservative techniques include physical exercises, epidural corticosteroid injection, local anesthetic injection therapy, and oral analgesics. Surgical intervention deals with the decompression of the affected spinal region, with or without vertebral fusion surgery. Other novel surgical techniques include implantation of specific equipment, known as interspinous spacer devices and minimally invasive lumbar decompression (MILD). Most studies offering a comparative analysis have demonstrated that surgical intervention is more efficacious than non-surgical interventions to manage pain associated with spinal stenosis.

LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity.

Childhood obesity and its related comorbidities have become major health issues over the last century. Among these comorbidities, cardiovascular diseases, especially hypertension, are the most significant. Recently, a polymorphism affecting the activity of lanosterol synthase has been associated with an increased risk of hypertension in adolescents. In this study, we aimed to investigate the effect of LSS rs2254524 polymorphism on blood pressure in children and adolescents with obesity. We enrolled 828 obese children aged 6-17 years. Subjects carrying the A allele showed higher rates of systolic and diastolic stage I hypertension and stage II hypertension. Carriers of the A allele showed a 2.4-fold (95% C.I. 1.5-4.7, p = 0.01) higher risk for stage II hypertension and a 1.9-fold higher risk for stage I hypertension (95% C.I. 1.4-2.6, p < 0.0001). The risk was independent of confounding factors. In conclusion, LSS rs2254524 worsens the cardiovascular health of children and adolescents with obesity, increasing their blood pressure.

Prolotherapy at Multifidus Muscle versus Mechanical Needling and Sterile Water Injection in Lumbar Spinal Stenosis.

Objective: This observational study aimed to compare ultrasound-guided (USG) prolotherapy with 5% dextrose in water (D5W) in the multifidus muscle to USG mechanical needling and sterile water injections for the treatment of lumbar spinal stenosis (LSS). Patients and Methods: The data was extracted from the medical records of ageing patients with LSS who received USG D5W in the multifidus muscle or USG mechanical needling and sterile water injections for the treatment of LSS by the first author. Low back pain or axial pain and leg pain or radicular pain were assessed by the visual analogue scale, and gait ability with walking distance were obtained at six different time points. Results: Among the 211 older people who were diagnosed with LSS, 104 got USG mechanical needling and sterile water injections over the course of four weeks, while the other 107 got D5W at the multifidus muscles in a single session. Chronic low back pain, radiating pain, and the ability to walk all got much better at 1 and 3 months after the intervention, compared to VAS measures taken at the start. Patients who underwent mechanical needling with injections of sterile water performed consistently and significantly better than those who received prolotherapy in the multifidus muscles on all measures at 1, 3, and 6 months. Conclusion: After receiving USG mechanical needling and sterile water, LSS patients reported significant improvements in low back pain, radicular pain, and ability to walk for at least 6 months. Prolotherapy with D5W in the multifidus muscle has a moderate effect for only three months.