Notes

Raised expression of the RNA-binding pattern protein Forty three predicts inadequate analysis throughout esophageal squamous mobile or portable carcinoma.
A962C (p.H321P); and recessive dystrophic EB (RDEB) a missense mutation at COL7A1 gene position c.G5000T (p.G1667V). The whole-exome sequencing was further verified by Sanger sequencing. The new mutations' finding is possibly due to the limited genetic database in the Malayo-Polynesian ethnic group. Indonesia has hundreds of ethnic groups, and the Javanese is the largest ethnic group that populates Indonesia. Genetic data of these ethnic groups is important to be established in the international genetic database. This combination of clinical diagnostic and genetic analysis tools with whole-exome sequencing confirmed the challenging diagnosis of epidermolysis bullosa.Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations (p less then 0.001) while consanguinity was evident in cases with normal karyotype (p less then 0.001). High birth prevalence of chromosome abnormalities in newborns with congenital anomalies in Al Madinah was evident and advanced parental age is a potential risk factor. A local registry system for congenital anomalies is highly recommended to provide proper health services to high risk families.Scoliosis in Ullrich Congenital Muscular Dystrophy (UCMD) is very common, with a reported incidence of more than 50%, and it is rapidly progressive. There are no previous studies which specifically focus on scoliosis surgery in UCMD patients. This article reports three cases of scoliosis surgery in UCMD, focusing on operative course, clinical and radiological results achieved, fusion area and complications, with a 2-year follow-up. The surgical technique adopted for vertebral arthrodesis included high-density pedicle screw systems, asymmetric rods contouring and direct vertebral rotation. The summary results shown a significative correction of the coronal deformity, with a reduction of the mean Cobb angle from 49° to 25° post-operatively. Mean pelvic tilt remained stable, while L5-tilt showed a decrease from 10° to 6°. 6-OHDA antagonist Mean screw density was 1.92. None of the patients required extended fixation to S2. No major complications were reported, and patients maintained their pre-operative walking ability. All the patients reported a subjective improvement in quality of life, with a better sitting comfort. In conclusion, posterior spinal fusion with high-density pedicle screw systems and direct vertebral rotation may be safe and effective in surgical correction of scoliosis in UCMD. If pelvic obliquity and L5-tilt are less than 15°, could be possible to achieve an optimal spinal and pelvic balance even without sacral or pelvic fixation.Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system. Lower urinary tract dysfunction due to MS includes a dysfunction of the storage phase or dysfunction of the voiding phase or a detrusor-sphincter dyssynergia. Baseline evaluation includes a voiding chart, an ultrasound scan of the urinary tract, urine culture, and an urodynamic study. For storage symptoms, antimuscarinics are the first-line treatment, and clean intermittent catheterization (CIC) is indicated if there is concomitant incomplete bladder emptying. Intradetrusor injections with botulinum toxin A (BTX-A), are recommended for refractory cases. Urinary diversion is rarely indicated. For patients with voiding symptoms, CIC and alpha-blockers are usually offered. Sexual dysfunction in patients with MS is multifactorial. Phosphodiesterase type 5 inhibitors are first-line therapies for MS-associated erectile dysfunction in both male and female patients. This review summarizes the epidemiology, pathogenesis, risk factors, genetic, clinical manifestations, diagnostic tests, and management of MS. Lastly, the urologic outcomes and therapies are reviewed.
Social media is part of modern life, for better or worse. Patients seek counsel on treatments, their side-effects, and the surgeon performing the surgery. Previous study has found several "dos" and "don'ts" regarding social media. The aim of this study was to specifically look for social media posts addressing breast augmentation, breast implants, and breast implant associated anaplastic large cell lymphoma (BIA-ALCL).The aims of this study were to examine social media posting regarding BIA-ALCL and to analyze the ways general public receive information regarding this disease.

A prospective analysis of 3 popular, global social media networks was performed, using the key phrase in English "anaplastic large cell lymphoma" or "ALCL" or "#ALCL." Three hundred posts related to breast cancer published on Instagram, YouTube, and Facebook in June 2018 were assessed by the following parameters author identity, subject, "social media currency" (likes, shares, comments), presence of special effects (videos, photogra wise to invest and understand these communication platforms, since this is where our patients are, and the way they are researching.
Preparation of nerve ends is an essential part of nerve repair surgery. Multiple instruments have been described for this purpose; however, no consensus exists regarding which is the least traumatic for tissue handling. We believe that various instruments used for nerve-end excision will lead to different surface roughness.

Median and ulnar nerves from fresh frozen cadavers were dissected, and 1-2 cm lengths were excised using a No. 11 blade, a razor blade, or a pair of scissors. Using electron microscopy, 3-dimensional surface analysis of roughness (Sa) for each specimen was performed using ZeeScan optical hardware and GetPhase software (PhaseView, Buisson, France). An ANOVA or Kruskal-Wallis test compared roughness measures among cutting techniques.

Forty nerves were included. Of these, 13 (32.5%) were cut using scissors, 15 (37.5%) using a razor blade, and 12 (30%) using a No. 11 blade. An ANOVA test showed statistical differences in Sa among the cutting techniques (
= 0.002), with the lowest mean Sa noted in the scissors group (7.
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