Mowat-Wilson syndrome: growth charts.

Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist.

The effects of energy metabolism variables on feed efficiency in respiration chamber studies with lactating dairy cows.

The objective of the present study was to investigate factors related to variation in feed efficiency (FE) among cows. Data included 841 cow/period observations from 31 energy metabolism studies assembled across 3 research stations. The cows were categorized into low-, medium-, and high-FE groups according to residual feed intake (RFI), residual energy-corrected milk (RECM), and feed conversion efficiency (FCE).

Proinflammatory Cytokines in the Olfactory Mucosa Result in COVID-19 Induced Anosmia.

Studies have found increased rates of dysosmia in patients with Novel Coronavirus disease 2019 (COVID-19). However, the mechanism that causes olfactory loss is unknown. The primary objective of this study was to explore local proinflammatory cytokine levels in the olfactory epithelium in patients with COVID-19.

Assessment of Transdermal Delivery of Topical Compounds in Skin Scarring Using a Novel Combined Approach of Raman Spectroscopy and High-Performance Liquid Chromatography.

The goal of any topical formulation is efficient transdermal delivery of its active components. However, delivery of compounds can be problematic with penetration through tough layers of fibrotic dermal scar tissue. We propose a new approach combining high-performance liquid chromatography (HPLC) and Raman spectroscopy (RS) using a topical of unknown composition against a well-known antiscar topical (as control).

Lessons learned from 40 novel PIGA patients and a review of the literature.

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.

Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.

Use of Deep Learning to Develop and Analyze Computational Hematoxylin and Eosin Staining of Prostate Core Biopsy Images for Tumor Diagnosis.

Importance: Histopathological diagnoses of tumors from tissue biopsy after hematoxylin and eosin (H&E) dye staining is the criterion standard for oncological care, but H&E staining requires trained operators, dyes and reagents, and precious tissue samples that cannot be reused.

Objectives: To use deep learning algorithms to develop models that perform accurate computational H&E staining of native nonstained prostate core biopsy images and to develop methods for interpretation of H&E staining deep learning models and analysis of computationally stained images by computer vision and clinical approaches.

Design, Setting, And Participants: This cross-sectional study used hundreds of thousands of native nonstained RGB (red, green, and blue channel) whole slide image (WSI) patches of prostate core tissue biopsies obtained from excess tissue material from prostate core biopsies performed in the course of routine clinical care between January 7, 2014, and January 7, 2017, at Brigham and Women's Hospital, Boston, Massachusetts.

Neurological manifestations of neurofibromatosis: a review.

Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder caused by a mutation in the NF1 tumor-suppressor gene. Patients are prone to develop benign and malignant tumors not only in the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache.

HIV and drug related stigma and risk-taking behaviors among people who inject drugs: a systematic review and meta-analysis.

The impact of HIV-related stigma on people living with HIV has been well documented, but there have been few studies examining how drug-related stigma impacts risk-taking in the lives of people who inject drugs (PWID). This meta-analysis aimed to determine HIV and drug-related stigma and the association it has with risk-taking behaviors among PWID. We searched PubMed, Science Direct, Web of Science, and Cochrane electronic databases independently in March 2019.

A microbiome and metabolomic signature of phases of cutaneous healing identified by profiling sequential acute wounds of human skin: An exploratory study.

Profiling skin microbiome and metabolome has been utilised to gain further insight into wound healing processes. The aims of this multi-part temporal study in 11 volunteers were to analytically profile the dynamic wound tissue and headspace metabolome and sequence microbial communities in acute wound healing at days 0, 7, 14, 21 and 28, and to investigate their relationship to wound healing, using non-invasive quantitative devices. Metabolites were obtained using tissue extraction, sorbent and polydimethylsiloxane patches and analysed using GCMS.

Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.

Purpose: The aim of this study was to provide a population-based estimate on the prevalence of infantile nystagmus and to describe the causes in the Capital Region of Denmark.

Methods: Review of medical records of children with infantile nystagmus born in the period 1 January 2010 through 31 December 2017 and living in the Capital Region of Denmark. We used birth registry data from Statistics Denmark and the National Danish Birth Registry to calculate the prevalence of nystagmus in children born at term and prematurely.

Upregulated miR-410 is linked to poor prognosis in colorectal cancer.

Background: Although miR-410 acts as a cancer inducer in colorectal cancer, there is limited data on the clinical implications of miR-410 expression levels in patients. We hypothesized a link between miR-410 expression and its potential clinical values in patients with colorectal cancer.

Material And Methods: 120 colorectal cancer tissue specimens and 120 adjacent non-tumour tissues were obtained.

Dental caries and periodontal disease among people who use drugs: a systematic review and meta-analysis.

Background: The aim of our study was to perform a systematic review of the literature and meta-analysis in order to investigate relationship between drug use and oral health.

Methods: We searched for studies in English published before July 1, 2019 on PsycINFO, PubMed, SciELO, Scopus, and Web of Science. We assessed the relationship between drug use (methamphetamines, heroin; opiates; crack, cocaine and cannabis as dependent variables) and reported tooth loss, periodontal disease, or decayed, missing, and filled teeth index as an independent variable.

A National Iranian Cochlear Implant Registry (ICIR): cochlear implanted recipient observational study.

Background And Objective: Patients who receive cochlear implants (CIs) constitutes a significant population in Iran. This population needs regular monitor on long-term outcomes, educational placement and quality of life. Currently, there is no national or regional registry on the long term outcomes of CI users in Iran.

Keloid scarring or disease: Unresolved quasi-neoplastic tendencies in the human skin.

Keloids are benign fibroproliferative dermal scars of unknown etiopathogenesis resulting in an exophytic protuberant growth with persistent and progressive peri-lesional expansile behavior. Keloids are likened to benign neoplastic lesions due to their aggressive clinical behavior, genotypic-phenotypic tissue characteristics, and resistance to treatment. Keloids are traditionally viewed as scars on the healing spectrum; however, keloids are a distinct pathology provoked by cutaneous injury rather than a continuum.

The effects of ammonia stimulation on kainate-induced status epilepticus and anterior piriform cortex electrophysiology.

Objective: Strong olfactory stimulation (OS) with such substances as toluene or ammonia has been reported to suppress seizures. We aimed to investigate the role of ammonia stimulation on acute kainic acid (KA)-induced seizures. We also investigated any possible effects of ammonia stimulation on the electrophysiology of the anterior piriform cortex (APC).

A Real-Life Study: Intravitreal Aflibercept, Ranibizumab and Dexamethasone for Macular Edema Secondary to Branch Retinal Vein Occlusion.

Objectives: This study aims to compare the efficacy of intravitreal injection of aflibercept (IVA), ranibizumab (IVR) and dexamethasone implant (DEX IMP) for the treatment of macular edema (ME) secondary to branch retinal vein occlusion (BRVO).

Methods: In this retrospective and comparative study, 57 eyes of 57 patients with ME after BRVO were studied. Patients were diveded into three groups according to treatment regimen as follows: 2 mg IVA (group 1, n=18), 0,5 mg IVR (group 2, n=20) and 0,7 mg Dex imp (group 3, n=19).

and Models for Functional Testing of Therapeutic Anti-scarring Drug Targets in Keloids.

Keloids are benign fibro-proliferative raised dermal lesions that spread beyond the original borders of the wound, continue to grow, rarely regress, and are the most common in pigmented individuals after an abnormal wound healing response. The current treatment failure and respective challenges involved highlighting the underlying issue that the etiopathogenesis of keloids is still not well understood. Disease models are required to better understand the disease pathogenesis.

Compound- and context-dependent effects of antibiotics on greenhouse gas emissions from livestock.

The use of antibiotics in livestock production may trigger ecosystem disservices, including increased emissions of greenhouse gases. To evaluate this, we conducted two separate animal experiments, administering two widely used antibiotic compounds (benzylpenicillin and tetracycline) to dairy cows over a 4- or 5-day period locally and/or systemically. We then recorded enteric methane production, total gas production from dung decomposing under aerobic versus anaerobic conditions, prokaryotic community composition in rumen and dung, and accompanying changes in nutrient intake, rumen fermentation, and digestibility resulting from antibiotic administration.

Laser Treatment of Traumatic Scars and Contractures: 2020 International Consensus Recommendations.

Background And Objectives: There is currently intense multidisciplinary interest and a maturing body of literature regarding laser treatments for traumatic scars, but international treatment guidelines and reimbursement schemes have not yet caught up with current knowledge and practice in many centers. The authors intend to highlight the tremendous potential of laser techniques, offer recommendations for safe and efficacious treatment, and promote wider patient access guided by future high-quality research.

Study Design/materials And Methods: An international panel of 26 dermatologists and plastic and reconstructive surgeons from 13 different countries and a variety of practice backgrounds was self-assembled to develop updated consensus recommendations for the laser treatment of traumatic scars.

Antiepileptic effects of electrical stimulation of the piriform cortex.

Deep brain stimulation (DBS) may help control seizures in individuals with medically intractable epilepsy who are not candidates for resective surgery. The current review focuses on some preclinical studies of DBS of the piriform cortex (PC), an area involved in the generation and maintenance of seizures, as a potential therapeutic option for refractory epilepsy. We also present findings suggesting the safety of low frequency stimulation (LFS) of the PC on memory.

Functional Testing of a Skin Topical Formulation : Objective and Quantitative Evaluation in Human Skin Scarring Using a Double-Blind Volunteer Study with Sequential Punch Biopsies.

Many topicals claim an efficacious role in skin scar management with limited evidence. Our aim is to present a clear format for functional testing of a skin scarring ointment, using noninvasive and invasive measurements, categorizing findings under the physiological, structural, and mechanical parameters of a scar. A double-blinded, randomized volunteer research study of 45 subjects receiving an ointment composing of natural ingredients against a widely used antiscarring topical used as a positive control with temporal sequential punch biopsies (up to 16 weeks) was evaluated using noninvasive quantitative devices and validated by gene and protein studies.

Comparing thoracoabdominal injuries of manual versus load-distributing band cardiopulmonary resuscitation.

Objective: To identify and compare manual and load-distributing band (LDB) cardiopulmonary resuscitation (CPR)-related injuries.

Methods: Retrospective observational cohort study. Adult, nontraumatic deaths with a postmortem computed tomography scan (PMCT) performed were classified into two groups: deceased after LDB CPR or after manual CPR.

Curcumin protects purkinje neurons, ameliorates motor function and reduces cerebellar atrophy in rat model of cerebellar ataxia induced by 3-AP.

Background: Cerebellar ataxias comprise a group of terminal illnesses with ataxia as the main symptom. Curcumin as a yellow polyphenol was extracted from the rhizome ofCurcuma longa. Owing to its antioxidant, anti-inflammatory, anti-fibrotic and anti-tumor features, curcumin is considered as a potential therapeutic agent.

Comparison of Methods to Measure Methane for Use in Genetic Evaluation of Dairy Cattle.

Partners in Expert Working Group WG2 of the COST Action METHAGENE have used several methods for measuring methane output by individual dairy cattle under various environmental conditions. Methods included respiration chambers, the sulphur hexafluoride (SF) tracer technique, breath sampling during milking or feeding, the GreenFeed system, and the laser methane detector. The aim of the current study was to review and compare the suitability of methods for large-scale measurements of methane output by individual animals, which may be combined with other databases for genetic evaluations.

Comparing injecting and sexual risk behaviors of long-term injectors with new injectors: A meta-analysis.

The present meta-analysis aimed to investigate the effect of injection duration on injection and sexual high-risk behaviors among people who inject drugs (PWID), in order to inform development of intensive HIV prevention services for selected PWID sub-populations. We searched PubMed, Science Direct, Web of Science, and Cochrane electronic databases independently in December 2018. After reviewing for duplication, full-texts of selected articles were assessed for eligibility using certain Population, Intervention, Comparator, Outcomes (PICO) criteria.