Kuhnlin7301

Cerebrotendinous xanthomatosis (CTX) is a rare congenital lipid-storage disorder, leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Chronic diarrhea, tendon xanthomas, neurologic impairment, and bilateral cataracts are common symptoms of the disease.

Three affected siblings with an initial diagnosis of non-syndromic intellectual disability were recruited for further molecular investigations. To identify the possible genetic cause(s), whole exome sequencing was performed on the proband. Sanger sequencing was applied to confirm the final variant. The clinical and molecular genetic features of the three siblings from the new CTX family and other patients with the same mutations, as previously reported, were analyzed. The CYP27A1 gene was also studied for the number of pathogenic variants and their location.

We found a homozygous splicing mutation, NM_000784 exon6 c.1184+1G>A, in CYP27A1 gene, which was confirmed by Sanger sequencing. Among the detected pathogenic variants, the splice site mutation had the highest prevalence, and the mutations were mostly found in exon 4.

This study is the first to report the c.1184+1G>A mutation in Iran. Our findings highlight the other feature of the disease, which is the lack of relationship between phenotype and genotype. Due to nonspecific symptoms and delay in diagnosis, CYP27A1 genetic analysis should be the definitive method for CTX diagnosis.

A mutation in Iran. Our findings highlight the other feature of the disease, which is the lack of relationship between phenotype and genotype. Due to nonspecific symptoms and delay in diagnosis, CYP27A1 genetic analysis should be the definitive method for CTX diagnosis.

Percutaneous transforaminal endoscopic discectomy (PTED) and microendoscopic discectomy (MED) are alternative minimally invasive procedures for the treatment of symptomatic lumbar disc herniation (LDH). However, insufficient literature exists to highlight the differences between the procedures.

This study intended to clarify whether PTED results in better clinical outcomes compared with MED in the surgical management of single-level LDH.

A multicenter retrospective cohort study.

This study took place in 2 spinal minimally invasive centers in Beijing, China.

A multicenter retrospective study was conducted in consecutive patients diagnosed with symptomatic LDH receiving PTED or MED in 2 spinal minimally invasive centers from April 2009 to July 2016. A total of 1,053 patients were recruited, of which 632 underwent PTED and 421 underwent MED. All patients were followed with a minimum of 2 years; a set of clinical outcomes were extracted and analyzed.

The operation time was similar between groups (71.2and functional recovery.

Persistent headaches and migraines are common in pediatrics with various treatment options. The sphenopalatine ganglion (SPG) has been identified as communicating with the parasympathetic autonomic nervous system and pain receptors. In adults, SPG block is an established treatment but there is no published literature in pediatrics.

The purpose of this study is to analyze the SPG block in pediatrics.

Retrospective, single-center study.

This study was conducted at Phoenix Children's Hospital in Phoenix, Arizona.

A comprehensive review of patient charts from 2015-2018 of all pediatric SPG blockades performed by interventional radiology were included in the analysis. Utilizing fluoroscopic guidance, a SphenoCath was inserted into each nostril and after confirming position, and 4% lidocaine injected. Pre- and postprocedural pain was assessed using the Visual Analog Scale (VAS). Immediate and acute complications were documented.

A total of 489 SPG blocks were performed in patients between ages 6 and 26 t pain reduction, and no complications, we support SPG block in the pediatric population as a simple, efficacious, and safe treatment option for refractory headaches. It is routinely performed in less than 10 minutes and commonly negates the need for inpatient headache pain management. Given its minimal invasivity, we support the use of SPG blockade as a therapeutic treatment in refractory pediatric migraines as it reduces the need for intravenous medications, prolonged pain control, or hospital admission.

For palliative percutaneous vertebroplasty (PVP) for vertebral metastases, local bone destruction progression (LBDP) commonly occurs in the previously treated vertebrae. There were no studies regarding LBDP and its risk factors in previous reports, and there was no uniform evaluation method for the distribution of bone cement in the vertebrae.

We aimed to investigate the risk factors for LBDP after PVP for palliative treatments in patients with vertebral metastases. check details We also proposed that filling rates could be used as a simple evaluation method to detect vertebral metastases and explored its clinical significance.

This was a retrospective study.

A university hospital.

A total of 48 patients and 54 vertebrae that had received PVP as a palliative treatment for vertebral metastases were recruited between October 2012 to October 2019 from the Shengjing Hospital of the China Medical University. We collected and evaluated the data including age, gender, cement filled completely or not, cement dose used, tore likely to have early LBDP compared with those with higher filling rates.

The cement dose, complete filling of cement, Saliou score, and filling rate were factors negatively related to LBDP occurring in less than 6 months. Patients with lower filling rates are maybe more likely to have early LBDP compared with those with higher filling rates.

The use of opioids for the treatment of pain is a risk versus benefit analysis and metabolic disease is an often overlooked variable in the equation and may lead to increased risk of comorbidities of cardiovascular and cerebrovascular disease and diabetes.

Our objective was to identify and describe abnormalities among the comprehensive metabolic and lipid panels of individuals taking prescription opioids.

We performed a cross-sectional study of the laboratory values with 3 cycles (2011-2016) of the National Health and Nutrition Examination Survey (NHANES) in March 2020.

NHANES sampling is conducted using a multistaged, stratified, cluster sampling technique to create a representative sample of the United States.

We excluded patients with histories of cancer and under the age of 25 years. Our final sample size was 11,061 (n = 162,547,635), with 797 reportedly using a prescription opioid in the past 30 days-a weighted percent representing 22.95% of the US population. Our analyses identified mean differences in biomarkers between individuals taking prescription opioids and the US population.