• And joining me to discuss the latest interim results from the NURTURE trial, focusing on a treatment option for presymptomatic patients with spinal muscular atrophy, are Dr Thomas Crawford and Dr Britton Zuccarelli. (reachmd.com)
  • Patients with spinal muscular atrophy (SMA) should have frequent follow-up care for symptomatic control of their disease. (medscape.com)
  • Patients with spinal muscular atrophy experience a progressive loss of motor function that usually affects the legs before it does the arms, and the proximal muscles before the distal ones. (medscape.com)
  • Pulmonary function assessment in patients with spinal muscular atrophy type II and type III. (medscape.com)
  • patients with spinal muscular atrophy presented higher adiposity and lower chest expansion. (bvsalud.org)
  • Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. (medscape.com)
  • Sturdee DW, Panay N, On behalf of the International Menopause Society Writing Group (2010) Recommendations for the management of postmenopausal vaginal atrophy. (springer.com)
  • Del Pup L (2016) Ospemifene: a safe treatment of vaginal atrophy. (springer.com)
  • One reason can be vaginal atrophy, an uncomfortable condition many Australian women experience. (smh.com.au)
  • Vaginal atrophy causes changes in the structure and function of the vagina. (smh.com.au)
  • In the past, treatment options for vaginal atrophy consisted mainly of ongoing application of oestrogen creams directly into the vagina. (smh.com.au)
  • The Mona Lisa Touch, an Italian-built fractional CO2 laser system, was designed to treat vaginal atrophy and localised vulvar pain. (smh.com.au)
  • The Mona Lisa Touch counteracts vaginal atrophy with a small laser that promotes blood flow to the region and encourages cells to promote more collagen, restoring the vaginal mucosa and rehydrating the vaginal walls. (smh.com.au)
  • Most women with mild to moderate vaginal atrophy (60-90%) are asymptomatic or have symptoms that cause no distress. (medscape.com)
  • Neuronal loss translates in specific spatiotemporal patterns of cortical atrophy, starting in the enthorinal cortex and spreading over other cortical regions according to specific propagation pathways. (frontiersin.org)
  • We developed a digital model of the cortical atrophy in the left hemisphere from prodromal to diseased phases, which is built on the temporal alignment and combination of several short-term observation data to reconstruct the long-term history of the disease. (frontiersin.org)
  • The model not only provides a description of the spatiotemporal patterns of cortical atrophy at the group level but also shows the variability of these patterns at the individual level in terms of difference in propagation pathways, speed of propagation, and age at propagation onset. (frontiersin.org)
  • Longitudinal MRI datasets of patients with mild cognitive impairments who converted to AD are used to reconstruct the cortical atrophy propagation across all disease stages. (frontiersin.org)
  • The model shows that, for instance, APOE carriers have a significantly higher pace of cortical atrophy but not earlier atrophy onset. (frontiersin.org)
  • This cortical atrophy presumably relates the traces of the progression of the lesions over the brain surface. (frontiersin.org)
  • Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disorder caused by mutations of the survival motor neuron 1 ( SMN1 ) gene. (biomedcentral.com)
  • Spinal muscular atrophy (SMA) is a common autosomal recessive hereditary disease characterized by degeneration of the anterior horn α-motor neurons in the spinal cord, leading to paralysis and atrophy of proximal muscles. (biomedcentral.com)
  • Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. (medscape.com)
  • Spinal muscular atrophies usually result from autosomal recessive mutations that affect the survival motor neuron 1 ( SMN1 ) gene on the long arm of chromosome 5, most often causing a homozygous deletion of exon 7. (msdmanuals.com)
  • Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons 1-5 . (bvsalud.org)
  • Progressive retinal atrophy (PRA) is a gene mutation that leads to blindness in dogs. (msu.edu)
  • Retinal assessments have been discussed as biomarkers for brain atrophy. (nature.com)
  • Occasionally progressive retinal atrophy (PRA) and portacaval shunt are seen in this breed. (petmd.com)
  • A 54-year-old man with a history of diabetes mellitus diagnosed at age 40 was referred for retinal findings on a routine exam. (aao.org)
  • Dilated fundus exam demon-strated diffuse retinal pigment epithelium atrophy with pigment deposition and a bull's-eye pattern. (aao.org)
  • OCT exhibited diffuse outer retinal atrophy, spar-ing the foveal region (Fig. 1). (aao.org)
  • Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. (medscape.com)
  • Spinal muscular atrophies include several types of hereditary disorders characterized by skeletal muscle wasting due to progressive degeneration of anterior horn cells in the spinal cord and of motor nuclei in the brain stem. (msdmanuals.com)
  • Spinal muscular atrophies may involve the central nervous system and thus are not purely peripheral nervous system disorders. (msdmanuals.com)
  • The diagnosis of an alcohol problem is best made by the history. (medscape.com)
  • Early diagnosis based on a careful history can prevent such consequences. (medscape.com)
  • Gynecological history taking involves a series of methodical questioning of a gynecological patient with the aim of developing a diagnosis or a differential diagnosis on which further management of the patient can be arranged. (wikiversity.org)
  • When taking any history in medicine it is essential to understand what the presenting complaint means and what the possible causes (differential diagnosis) of the presenting complaint may be. (wikiversity.org)
  • A differential diagnosis can be made after the history taking process. (wikiversity.org)
  • The diagnosis usually is based on the patient's history and physical examination. (medscape.com)
  • If you develop any of the signs and symptoms associated with multiple system atrophy, see your doctor for an evaluation and diagnosis. (middlesexhealth.org)
  • After medication toxicities were ruled out by the patient's history, the fundus autofluorescence findings helped to narrow down the differential diagnosis to mitochondrial conditions and certain retinitis pigmentosa variants. (aao.org)
  • Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. (medscape.com)
  • Background: Although spinal-bulbar muscular atrophy (SBMA) is generally believed to be associated with better survival and function compared to other motor neuron diseases, no systematic study of long-term functional status or survival has been reported. (elsevierpure.com)
  • Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (medlineplus.gov)
  • The nuclear factor-κB (NFκB) pathway is a major thoroughfare for skeletal muscle atrophy and is driven by diverse stimuli. (elifesciences.org)
  • These findings suggest that tenotomy-induced atrophy is not dependent on NFκB and instead may be regulated by autophagy in a sex-specific manner. (elifesciences.org)
  • Findings from 17, 23, 32, and 42 studies were included for the evaluation of natural history of SMA, HRQOL and utilities, clinical efficacy and safety, and economic impact of DMTs, respectively. (nih.gov)
  • Essential iris atrophy presents with the corneal findings and corectopia with developments of stretch and melt holes with disease progression. (uiowa.edu)
  • The cumulative findings in this review help to better understand the variability of natural history data in untreated patients and will be of use for comparison to the real world patients treated with the recently approved therapies that have shown encouraging results in clinical trials. (unicatt.it)
  • Scientists reported the preliminary findings at the International Conference on Alzheimer's Disease (ICAD) held 10-15 July in Honolulu, Hawaii, along with other data showing that the Tomm40 length variants also correlate with brain atrophy and cognition in asymptomatic middle-aged people. (alzforum.org)
  • Puzzling over these findings, which were reported last fall at the Clinical Trials on Alzheimer's Disease meeting in Las Vegas (see ARF conference story ), the researchers recalled the recent buzz over Tomm40 and wondered whether Tomm40 length variants might help tease out the differences they had seen related to family history. (alzforum.org)
  • Our results suggest that history of clinically-relevant fatigue in currently non-fatigued patients is associated with GM atrophy, potentially explaining inconsistent findings of previous studies that stratified patients using a single fatigue assessment. (inims.de)
  • Participants were included if they had a family history of CRC, had normal or non-neoplastic findings on an index colonoscopy, and had 10 years or more of follow-up colonoscopies from 2000 to 2019. (ajmc.com)
  • Genitourinary syndrome of menopause: new terminology for vulvovaginal atrophy from the International Society for the Study of Women's Sexual Health and the North American Menopause Society. (springer.com)
  • There are three clinical categories: Chandler's syndrome, Cogan-Reese syndrome, and essential iris atrophy. (uiowa.edu)
  • Soon after, Professor Johann Hoffmann from Heidelberg University presented a paper describing a syndrome of progressive atrophy, weakness, and death during the early childhood period of siblings with genetically normal parents. (medscape.com)
  • Hoffmann called the syndrome spinale muskelatrophie (spinal muscular atrophy). (medscape.com)
  • Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
  • However many women who have experienced breast cancer, or have a history of abnormal blood clotting or other conditions, are not able to use hormone-replacement products. (smh.com.au)
  • The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat . (medlineplus.gov)
  • OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated. (wikipedia.org)
  • The aim of this study was to evaluate long-term effects of the fractional CO 2 laser for the treatment of vulvovaginal atrophy (VVA) symptoms. (springer.com)
  • Portman DJ, Gass ML (2014) Vulvovaginal atrophy terminology consensus conference panel. (springer.com)
  • North American Menopause Society (2013) Management of symptomatic vulvovaginal atrophy: 2013 position statement of the North American Menopause Society (2013). (springer.com)
  • Pieralli A, Fallani MG, Becorpi A, Bianchi C, Corioni S, Longinotti M, Tredici Z, Guaschino S (2016) Fractional CO2 laser for vulvovaginal atrophy (VVA) dyspareunia relief in breast cancer survivors. (springer.com)
  • Perino A, Calligaro A, Forlani F, Tiberio C, Cucinella G, Svelato A, Saitta S, Calagna G (2015) Vulvovaginal atrophy: a new treatment modality using thermos-ablative fractional CO 2 laser. (springer.com)
  • Salvatore S, Nappi RE, Zerbinati N, Calligaro A, Ferrero S, Origoni M, Candiani M, Leone Roberti Maggiore U (2014) A 12-week treatment with fractional CO 2 laser for vulvovaginal atrophy: a pilot study. (springer.com)
  • We identified and reviewed all the existing longitudinal history data in infants with type I SMA first assessed before the age of 7 months with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). (unicatt.it)
  • Conclusion: A detailed understanding of the existing data is important, as it will be difficult to acquire new systematic longitudinal history data because of the availability of disease modifying therapies. (unicatt.it)
  • Objective: To evaluate whether baseline prostate atrophy (PA) extent is associated with prostate cancer (PCa) incidence at 2-year repeat prostate biopsy in a clinical trial with systematic biopsies. (uic.edu)
  • History of fatigue in multiple sclerosis is associated with grey matter atrophy. (inims.de)
  • 2011) for multiple sclerosis integrate data from neurological history, physical examination, and MRI appearances of the brain and cord. (medscape.com)
  • A fine-scale modeling of the atrophy propagation is likely to give a wider understanding of the disease evolution, as the structural markers seems reliable to assess the conversion to the AD stage, potentially carrying subtle indicators of the disease progression in early phases. (frontiersin.org)
  • Traditionally, the natural history of frozen shoulder has been described as a progression through three phases: painful, stiffness, and recovery. (aafp.org)
  • Patient history associated to oral cavity exam is extremely important to detect the signs and symptoms associated to xerostomia, as for example, filiform papillae atrophy, increased number of cavities, candidiasis, halitosis, altered sense of taste, burning feeling, difficulty in swallowing, among other. (bvsalud.org)
  • Scoliosis in spinal muscular atrophy: review of 63 cases. (medscape.com)
  • The Tomm40 length variants also seem to track with other defining measures of AD-namely, brain atrophy and cognition. (alzforum.org)
  • Increasing age, being male, and having HT, impaired cognition, or a history of angina pectoris were associated with CMB. (lu.se)
  • Parents who have a family history of SMA may want to do a prenatal test to check to see whether their baby has an SMN1 gene change. (medlineplus.gov)
  • Zolgensma, an FDA approved gene therapy, supplements the production of the SMN protein to improve motor neuron function in children with spinal muscular atrophy after just one dose. (neurosciencenews.com)
  • They'll pose questions to learn more about your medical and family history and conduct a thorough physical examination. (healthline.com)
  • These modifications took the form of a structural change of the brain in particular an important neuronal loss and an atrophy of the brain cortex ( 7 , 8 ). (frontiersin.org)
  • Which parts of the brain are affected in Multiple System Atrophy? (parkinson.ca)
  • In MSA, brain cells in the affected areas shrink (atrophy). (parkinson.ca)
  • White matter hyperintensities (WMH), CMB, atrophies, and infarctions were identified with brain 3T MRI, and BP parameters were examined in 344 randomly selected subjects between 70 and 87 years old. (lu.se)
  • 1- 4 Multiple system atrophy is usually defined by the predominance of parkinsonian (MSA-P type) or cerebellar (MSA-C type) features. (bmj.com)
  • When Arabella Smygov was diagnosed with spinal muscular atrophy (SMA) type 1 at 3 months old, the first recommendation Dr. Fawn Leigh, a neurologist at Seattle Children's, gave her parents, Sarah and Vitaliy, was to wait on searching for information about SMA online. (neurosciencenews.com)
  • Natural history studies using structured assessments in type I however are very limited. (unicatt.it)
  • Training improves oxidative capacity, but not function in Spinal Muscular Atrophy Type III. (medscape.com)
  • Spinal muscular atrophy type 3 (juvenile form, or Wohlfart-Kugelberg-Welander disease) usually manifests between age 15 months and 19 years. (msdmanuals.com)
  • to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
  • Therefore, the aim of this study is verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
  • We will trace the history of ideas about optic nerve anatomy and function in the Western world from the ancient Greeks to the early 20th century and show how these influenced causal theories of optic nerve diseases. (nature.com)
  • The history of concepts of nerve function is one of the longest in the evolution of the neurosciences although Clarke and Jacyna 1 suggest that it falls naturally into three epochs. (nature.com)
  • It is shows that a strong positive correlation between the severity of multifidus atrophy and the severity of spinal stenosis. (biomedcentral.com)