The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review.

Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of features such as a characteristic appearance, many congenital defects, intellectual disability and a genetic predisposition to cancer, friendly personality, and others can be identified. CS is very rare, with an incidence of ~1/300,000, but it belongs to one of the largest groups of congenital syndromes, called RASopathies, occurring with an incidence of 1/1000 people. Scoliosis and kyphosis, as well as other spinal defects, are common, in 63% and 58% of patients, respectively, and a study conducted among adult patients showed the presence of scoliosis in 75% of patients; there may be excessive lordosis of the lumbar section and inverted curvatures of the spine (lordosis in the thoracic section and kyphosis in the lumbar section).

Pulmonologists' Attitudes and Role in Precision Medicine Biomarker Testing for Non-Small Cell Lung Cancer.

Background: Despite advances in precision medicine for non-small cell lung cancer (NSCLC), biomarker testing for these therapies remains frequently underused, delayed, and inequitable. Pulmonologists often play a critical role in the initial diagnostic steps for patients with lung cancer, and previous data show variability in their knowledge and practices regarding biomarker testing. The purpose of this study is to better understand how pulmonologists view their role in lung cancer care.

Reflexive and voluntary saccadic eye movements as biomarker of Huntington's Disease.

Introduction: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD.

Material And Methods: The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects.

Genetic characterization of Toxoplasma gondii from human and chicken isolates from Argentina.

This study aimed to determine the nPCR-RFLP genotypes of newly obtained T. gondii isolates from human congenital toxoplasmosis cases in Argentina and to determine their allelic profiles for virulence genes ROP18/ROP5. In addition, the ROP18/ROP5 profiles were also determined for previously characterized T.

The Utility of BDNF Detection in Assessing Severity of Huntington's Disease.

Brain-derived neurotrophic factor (BDNF) is involved in the survival and maturation of neurons, and also promotes and controls neurogenesis. Its levels are lowered in many neurodegenerative diseases, including Huntington's disease (HD). Clinical pictures of HD can be very diverse, which makes it difficult to assess its severity; however, molecular markers may be helpful.

Is TGF-β1 a Biomarker of Huntington's Disease Progression?

Huntington's disease (HD) is an autosomal dominant genetic disease that can be divided into preclinical and symptomatic stages. Due to the diverse HD phenotype, there is an urgent need to identify markers that would independently assess its severity. The aim of this study was to evaluate the use of plasma levels of TGF-β1 in the assessment of HD severity.

Kidney stones are common in patients with short-bowel syndrome receiving long-term parenteral nutrition: A predictive model for urolithiasis.

Background: In short-bowel syndrome (SBS) treated with parenteral nutrition (PN), multiple complications can occur. The etiology of kidney stones may be linked to the underlying disease thrombosis, surgical complications, complications of therapy for cancer, Crohn's disease, metabolic abnormalities resulting from morphological and functional changes in the gastrointestinal tract, and to treatment used. We analyzed all these parameters in a large cohort of patients receiving home PN (HPN), to define the incidence of stones and groups of patients particularly at risk of stone formation.

Interferon-γ and IL-10 Release Assay for Patients with Ocular Toxoplasmosis.

Peripheral blood mononuclear cells (PBMC) from patients with ocular toxoplasmosis were challenged with total antigens from lysate (TATL) in a cytokine release assay (CRA), run during the inactive period of the disease. Increased interferon gamma (IFN-γ) levels were detected after PBMC stimulation with either ME49 reference strain ( = 0.0015) or local TgCkAr-11-9 isolate ( = 0.

3D Depth Profile Reconstruction of Segregated Impurities using Secondary Ion Mass Spectrometry.

The presented protocol combines excellent detection limits (1 ppm to 1 ppb) using secondary ion mass spectrometry (SIMS) with reasonable spatial resolution (~1 µm). Furthermore, it describes how to obtain realistic three-dimensional (3D) distributions of segregated impurities/dopants in solid state materials. Direct 3D depth profile reconstruction is often difficult to achieve due to SIMS-related measurement artifacts.

Three dimensional localization of unintentional oxygen impurities in gallium nitride.

Further development of gallium nitride (GaN) based optoelectronic devices requires in-depth understanding of the defects present in GaN grown on a sapphire substrate. In this work, we present three dimensional secondary ion mass spectrometry (SIMS) detection of oxygen. Distribution of these impurities is not homogeneous and the vast majority of oxygen atoms are agglomerated along pillar-shaped structures.

Internet Health Behaviors of Patients with Chronic Obstructive Pulmonary Disease and Assessment of Two Disease Websites.

Little is known about patients' use of the internet to search for information about chronic obstructive pulmonary disease (COPD) and their perspectives on disease content on websites. To determine the interests and behavior of patients with COPD who search the internet for disease information and to assess their perspectives about 2 COPD educational websites. Individuals with COPD who had registered for a consumer panel were invited electronically to participate in a survey which included general use of the internet, online health behaviors about COPD, and assessment of 2 COPD educational websites.

Immune Mediators against during Reactivation of Toxoplasmic Retinochoroiditis.

: The purpose of this article is to analyze possible associations between systemic and ocular cytokine levels and specific clinical ophthalmologic signs from patients with a reactivation of toxoplasmic retinochoroiditis (RTR). : A total of 18 patients with an active RTR episode, 8 patients with inactive scars, and 14 control patients were included in the study. Serum samples and aqueous humor (AH) samples were analyzed for IFN (interferon)-γ, interleukin (IL)-10, and IL-6 levels by ELISA.

Regional Differences in the Clinical Manifestation of Ocular Toxoplasmosis Between the Center and Northeast of Argentina.

: To compare the clinical characteristics of patients with active episodes of ocular toxoplasmosis from three provinces, Misiones, Santa Fe, and Buenos Aires, Argentina. : Patients with a diagnosis of ocular toxoplasmosis from three databases of four tertiary referral uveitis centers were reviewed. Collected data included presentation of the retinochoroiditis, location of the active lesions, associated inflammatory ocular signs and complications.

Oxygen-induced high diffusion rate of magnesium dopants in GaN/AlGaN based UV LED heterostructures.

Further development of GaN/AlGaN based optoelectronic devices requires optimization of the p-type material growth process. In particular, uncontrolled diffusion of Mg dopants may decrease the performance of a device. Thus it is meaningful to study the behavior of Mg and the origins of its diffusion in detail.

Toxoplasma gondii isolates from chickens in an area with human toxoplasmic retinochoroiditis.

The aim of this study was to detect, isolate and genetically characterize Toxoplasma gondii from tissues obtained from free range chickens which were breed in farms from patients with toxoplasmic retinochoroiditis in Misiones, Argentina. Thirty three samples of head (refrigerated = 18 and frozen = 15) from free range chickens were processed. Refrigerated (n = 18) chicken central nervous systems (CNS) were bioassay in mice.

Is reactivation of toxoplasmic retinochoroiditis associated to increased annual rainfall?

Background: Reactivation of toxoplasmic retinochoroiditis is the most frequent form of uveitis in Misiones, Argentina. Fluctuations in the number of patients consulting with this type of uveitis were detected during the last decade. Since the province was consecutively exposed to rainy and dry periods over the last years, we decided to explore whether a relationship between reactivation of toxoplasmic retinochoroiditis and rain might be established according to the data registered during the 2004-2010 period.

Magnetic resonance imaging (MRI) for assessment of differences in geometrical parameters in muscles stabilizing vertebral column in young and older persons. Case study.

Today non-traumatic low back pain (LBP) is a social disease being attributed to weakening the function of abdominal and back muscles. Condition of deep muscles, inaccessible to non-invasive examinations, can be assessed by means of magnetic resonance imaging (MRI). The method allows for the assessment of cross-sections, muscle girths, as well as their intensity (brightness).

Alpha2-macroglobulin is a mediator of retinal ganglion cell death in glaucoma.

Glaucoma is defined as a chronic and progressive optic nerve neuropathy, characterized by apoptosis of retinal ganglion cells (RGC) that leads to irreversible blindness. Ocular hypertension is a major risk factor, but in glaucoma RGC death can persist after ocular hypertension is normalized. To understand the mechanism underlying chronic RGC death we identified and characterized a gene product, alpha2-macroglobulin (alpha2M), whose expression is up-regulated early in ocular hypertension and remains up-regulated long after ocular hypertension is normalized.

Antiangiogenic characteristics of astrocytes from optic nerve heads with primary open-angle glaucoma.

Objective: To evaluate the angiogenic status of the human optic nerve head (ONH) with primary open-angle glaucoma (POAG).

Methods: Using real-time reverse transcription-polymerase chain reaction and Western blot, we analyzed the expression of proangiogenic and antiangiogenic factors in cultured ONH astrocytes from healthy donors and donors with POAG. Immunohistochemical analysis was used to localize those factors in human ONHs from healthy donors and donors with POAG.

Chemoattraction of inflammatory cells by various intraocular lens materials.

Purpose: To compare the chemotactic activity induced by polymethyl methacrylate (PMMA), acrylic, and silicone intraocular lens (IOL) materials, regardless of the surgical and host factors.

Methods: The chemotactic effect of five different IOLs was studied using a modified multi-well Boyden chamber. Two different non-coated PMMA IOLs, a heparin-coated PMMA IOL, an acrylic IOL, and a silicone IOL were assessed.

Cholesterol biosynthesis and the pro-apoptotic effects of the p75 nerve growth factor receptor in PC12 pheochromocytoma cells.

Neocarzinostatin (NCS), an enediyne antimitotic agent, induces cell death in both p75NTR neurotrophin receptor (NTR)-positive and p75NTR-negative PC12 cells in a concentration-dependent fashion. However, p75NTR-positive cells demonstrate a higher susceptibility to NCS-induced cell damage. Furthermore, treatment of p75NTR-positive cells with the p75NTR-specific ligand, MC192, resulted in apoptosis, while treatment of these cells with the TrkA-specific ligand, NGF-mAbNGF30, protected them from NCS-induced death, implying that both the naked and liganded p75NTR receptors have a pro-apoptotic effect on PC12 cells.

Changes in retinal expression of neurotrophins and neurotrophin receptors induced by ocular hypertension.

Open angle glaucoma is defined as a progressive and time-dependent death of retinal ganglion cells concomitant with high intraocular pressure, leading to loss of visual field. Because neurotrophins are a family of growth factors that support neuronal survival, we hypothesized that quantitative and qualitative changes in neurotrophins or their receptors may take place early in ocular hypertension, preceding extensive cell death and clinical features of glaucoma. We present molecular, biochemical, and phenotypic evidence that significant neurotrophic changes occur in retina, which correlate temporally with retinal ganglion cell death.

Chemotactic and chemokinetic properties of topical ophthalmic preparations.

Purpose: Chronic ocular inflammation can be due to a disease process or to iatrogenic factors that attract inflammatory cells to the anterior chamber. This study was conducted to investigate the effect of commonly used ophthalmic preparations on leukocyte migration.

Methods: A modified multi-well Boyden chamber was used to study the chemotactic and chemokinetic effects of 33 commercial ophthalmic preparations.