1. Werdnig Hoffmann Disease
Jeffrey Bodle, Prabhu D. Emmady
Werdnig-Hoffmann disease is a type of spinal muscular atrophy (SMA), a rare form of motor neuron disease. It is the most common type of SMA and accounts for about 80% of individuals with this condition. There are 4 types of SMA. Werdnig-Hoffmann disease, also known as SMA1, is the most severe form. Infants with this condition experience severe muscle weakness with onset before 6 months of age and presenting symptoms include severe motor weakness, poor muscle tone, and lack of motor development.Motor neuron disease is a condition that affects the anterior horn cells of the motor neurons. These are the neurons that control voluntary muscle control. These are rare conditions that are often very severe, and no cure is available. Examples of motor neuron diseases include amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), SMA, progressive bulbar palsy (PBP), primary lateral sclerosis (PLS), etc., These conditions spare sensory nerves, and individuals do not have sensory involvement. Individuals often have a combination of upper and lower motor neuron symptoms.SMA is a type of motor neuron disease. SMA presents four subtypes.Werdnig-Hoffmann disease, also known as acute spinal muscular atrophy, is SMA 1.SMA2, also known as intermediate SMA and chronic infantile SMA, has less severe symptoms than SMA1 and can sit without support but cannot stand or walk. SMA2 symptom onset is in infanthood.SMA3, also known as Kugelberg-Welander disease, presents after the age of 1, and the child is able to walk initially but later has the regression of motor abilities. They often develop poor balance, falls, and scoliosis.Individuals with SMA4 have minimal symptoms compared to the other forms, and symptom onset is after the age of 10 years. They usually have a normal lifespan. They usually have normal motor milestones and mobility.
2. Borderline oxacillin-resistant Staphylococcus aureus (BORSA) - a more common problem than expected?
Katarzyna Garbacz, Maria M Hryniewicz J Med Microbiol . 2017 Oct;66(10):1367-1373. doi: 10.1099/jmm.0.000585.
Borderline oxacillin-resistant Staphylococcus aureus (BORSA) represents a quite poorly understood and inadequately defined phenotype of methicillin resistance. BORSA strains show low, borderline resistance to penicillinase-resistant penicillins (PRPs), with oxacillin MICs typically equal to 1-8 µg ml-1, and in contrast to methicillin-resistant S. aureus (MRSA), do not have an altered penicillin-binding protein, PBP2a, encoded by the mecA or mecC gene. Their resistance is typically associated with hyperproduction of beta-lactamases or, in some cases, point mutations in PBP genes. BORSA cannot be classified as either truly methicillin-resistant or truly methicillin-susceptible strains. However, they are frequently misidentified, which poses an obvious epidemiological and therapeutic threat. BORSA strains are commonly isolated from humans and animals, and are found both in hospitals and in a community setting. The epidemiology and clinical presentation of BORSA infections seem to be similar to those for MRSA; these infections are usually more severe than those caused by methicillin-sensitive S. aureus (MSSA). Treatment of severe infections caused by BORSA may be ineffective, even with larger doses of oxacillin. The available evidence suggests that BORSA represent a frequently neglected problem, and their emergence in new environments implies that they need to be monitored and accurately distinguished from MSSA and MRSA.
3. The Existence and Regression of Persistent Bergmeister's Papilla in Myopic Children Are Associated With Axial Length
Xiangui He, Qiurong Lin, Kyoko Ohno-Matsui, Xian Xu, Junjie Deng Transl Vis Sci Technol . 2021 Nov 1;10(13):4. doi: 10.1167/tvst.10.13.4.
Purpose:The purpose of this study was to evaluate the existence and regression of persistent Bergmeister's papilla (PBP) in myopic eyes and determine its independent predictors.Methods:This cross-sectional population-based study included 472 eyes of 236 myopic children. PBPs were identified with swept-source optical coherence tomography (OCT) and were classified into three types (types I, II, and III) according to their morphologic features.Results:The mean patient age was 12.13 ± 2.60 years (range = 5-18 years), and 118 (50%) participants were boys. The prevalence of PBPs in our study was 67.8% (160/236). There were significant differences in height, spherical equivalent (SE), and axial length (AL) between the PBP and non-PBP groups (P < 0.05). Type I PBP was noted in 173 eyes (66.8%); type II PBP in 59 eyes (22.8%); and type III PBP in 27 eyes (10.4%). The three PBP types showed significant differences in height, AL, and SE (P < 0.001). Stepwise linear regression analysis indicated that the height (B = 4.497, P < 0.001), PBP existence or not (B = -1.434, P < 0.001), and the types of PBP (B = 0.566, P = 0.041) was an independent predictor for AL, respectively. PBP was detected more frequently in the nasal quadrant than in the inferior quadrant of the disc.Conclusions:PBP regression was closely related to the AL and could be used as a new biomarker to indicate the progression of myopia.Translational relevance:Our analysis of the presence and morphology of PBP might enable clinicians to judge the progression of myopia.
