Physiotherapy in Children With Cri Du Chat Syndrome: A Clinical Case

Cri du chat syndrome is a rare genetic abnormality characterized by a specific set of symptoms. It occurs as a result of the deletion of the short arm of the fifth chromosome. The syndrome can be inherited or congenital. Children suffering from this genetic disease have characteristic signs: low birth weight, microcephaly, short fingers, clinodactyly, muscular hypotonia, congenital heart defects, mental retardation, delayed psychomotor development, a characteristic cry resembling a cat`s meow, etc. The timely inclusion of physiotherapy and consistency in the implementation of the physiotherapeutic complexes would help prevent or limit the development of certain deficits, both in the physical development and in the neurological status of the child. This, in turn, will help the parents in their care of the child, ensuring greater independence and socialization within society.The aim of this report is to prepare and present a physiotherapeutic protocol whose purpose is to improve coordination and concentration while helping the patient adapt to activities of daily living.Materials and methods: A case study involving a five-year-old girl with congenital cri du chat syndrome.Results and discussion: Long-term physiotherapy, employing a range of methods and tools at each stage, combined with interdisciplinary collaboration with specialists such as speech therapists, psychologists, and occupational therapists. All of them contribute to the development and adaptation of the patient to the surrounding environment

Nonischemic Central Retinal Vein Occlusion in an Adolescent Patient with Ulcerative Colitis

Inflammatory bowel disease (IBD) can present with extraintestinal manifestations occasionally involving the eye. Retinal vein occlusions are rarely seen and have never been reported in the pediatric population though vascular thrombosis can be associated with IBD. Here, we present a case of what we believe is the youngest reported patient with nonischemic central retinal vein occlusion (CRVO)

Hemostasis in erysipelas – modern concepts

Introduction: Erysipelas is a common, ubiquitous bacterial infection of the skin mainly caused by Streptococcus pyogenes - group A beta-hemolytic streptococcus. The current epidemiology of the disease demonstrates an upward trend in cases with primary and recurrent erysipelas, a change in the site of predilection – from face to lower limbs, and an increase of severe cases with a hemorrhagic or bullous-hemorrhagic component. To date, the alterations in hemostasis due to streptococcal bacterial infection are still not well defined. Despite the advanced treatment of erysipelas, in approximately 10% of patients with hemorrhagic and bullous-hemorrhagic erysipelas, a skin necrosis has occurred. The combination of severe types of erysipelas with local and general predisposing factors such as diabetes mellitus, obesity, chronic vessel insufficiency results in recurrences and complications with high percentage of disability. In addition, streptococcal infections may have fulminant progression as for every 1 hour delay of adequate treatment, the percent of mortality increases with 7.5%.Aim:  The purpose of this paper is to establish the current concepts and observations of hemostatic changes in erysipelas.Materials and Methods: Literature referred in MEDLINE, Web of Science, Scopushas been studied.Results: The hemostasis changes in erysipelas are not well researched. The available literature is insufficient as the studies are based on a small number of patients, which prevents any significant conclusions.  Conclusion: The increasing incidence of patients with severe form of erysipelas stresses the need to intensify the study of hemostasis in erysipelas. Knowing the mechanisms of coagulation changes might help to predict and prevent severe, irreversible complications.

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access

PurposeAdvanced age-related macular degeneration (AAMD) risk is associated with rare complement Factor I (FI) genetic variants associated with low FI protein levels (termed ‘Type 1’), but it is unclear how variant prevalences differ between AMD patients from different ethnicities.MethodsCollective prevalence of Type 1 CFI rare variant genotypes were examined in four European AAMD datasets. Collective minor allele frequencies (MAFs) were sourced from the natural history study SCOPE, the UK Biobank, the International AMD Genomics Consortium (IAMDGC), and the Finnish Biobank Cooperative (FINBB), and compared to paired control MAFs or background population prevalence rates from the Genome Aggregation Database (gnomAD). Due to a lack of available genetic data in non-European AAMD, power calculations were undertaken to estimate the AAMD population sizes required to identify statistically significant association between Type 1 CFI rare variants and disease risk in different ethnicities, using gnomAD populations as controls.ResultsType 1 CFI rare variants were enriched in all European AAMD cohorts, with odds ratios (ORs) ranging between 3.1 and 7.8, and a greater enrichment was observed in dry AMD from FINBB (OR 8.9, 95% CI 1.49–53.31). The lack of available non-European AAMD datasets prevented us exploring this relationship more globally, however a statistical association may be detectable by future sequencing studies that sample approximately 2,000 AAMD individuals from Ashkenazi Jewish and Latino/Admixed American ethnicities.ConclusionsThe relationship between Type 1 CFI rare variants increasing odds of AAMD are well established in Europeans, however the lack of broader genetic data in AAMD has adverse implications for clinical development and future commercialisation strategies of targeted FI therapies in AAMD. These findings emphasise the importance of generating more diverse genetic data in AAMD to improve equity of access to new treatments and address the bias in health care.</p

Use оf Educational Computer Games in the Initial Assessment and Therapy of Children with Special Educational Needs in Bulgaria

The present work analyses a study, conducted among Bulgarian speech and language pathologists - SLTs on the use of educational computer games in their practice, attitudes and perceptions, related to it, as well as the type of deficits they tackle, and its effects and expected outcomes. 103 participants answered 26 questions in a survey, designed by the authors, related to the educational computer games use. The study shows a widespread use of games without overuse and need of structured policy development for specialized educational computer games elaboration to support the work of the SLT in the country

Probing magnetism in 2D molecular networks after in situ metalation by transition metal atoms

Metalated molecules are the ideal building blocks for the bottom-up fabrication of, e.g., two-dimensional arrays of magnetic particles for spintronics applications. Compared to chemical synthesis, metalation after network formation by an atom beam can yield a higher degree of control and flexibility and allows for mixing of different types of magnetic atoms. We report on successful metalation of tetrapyridyl-porphyrins (TPyP) by Co and Cr atoms, as demonstrated by scanning tunneling microscopy experiments. For the metalation, large periodic networks formed by the TPyP molecules on a Ag(111) substrate are exposed in situ to an atom beam. Voltage-induced dehydrogenation experiments support the conclusion that the porphyrin macrocycle of the TPyP molecule incorporates one transition metal atom. The newly synthesized Co-TPyP and Cr-TPyP complexes exhibit striking differences in their electronic behavior, leading to a magnetic character for Cr-TPyP only as evidenced by Kondo resonance measurements.status: publishe

Functional and Anatomical Outcomes of Pars Plana Vitrectomy for Epiretinal Membrane in Patients with Uveitis

Purpose-To evaluate the anatomical and functional outcomes of vitrectomy and epiretinal membrane (ERM) peeling in patients with uveitis. Secondarily, we evaluated the effect of internal limiting membrane (ILM) peeling on surgical outcomes, and of surgery on uveitis activity and, thus, therapeutic regime. Methods-Bicentre, retrospective, interventional case series of 29 eyes of 29 consecutive patients affected by uveitis and ERM, that had undergone pars plana vitrectomy with ERM peel between 2012 and 2020, with a minimum postoperative follow-up (FU) of six-months. Demographic data, best-corrected visual-acuity (BCVA), clinical findings, intraoperative and postoperative complications, and macular optical-coherence-tomography scans were reviewed. Results-The mean (standard deviation) duration of follow-up was 32 (22) months. At six-month FU, mean central-retinal-thickness (CRT) significantly improved (from 456 (99) to 353 (86) microns; p &lt; 0.001), and mean BCVA improved from 0.73 (0.3) to 0.49 (0.36) logMAR (p &lt; 0.001), with only one (3%) patient experiencing worsening of vision. The rate of concomitant cystoid macular edema decreased from 19 (66%) eyes at presentation to eight (28%) eyes at final-FU (p = 0.003). Comparing eyes in which ILM peeling was performed in addition to ERM peeling only, BCVA or CRT reduction were comparable. Only a minority of six (21%) eyes had a worsening in uveitis activity requiring additional medications, whereas most patients resumed the same treatment (52%) or received less treatment (28%) (p = 0.673). Conclusions-Vitrectomy with ERM peeling led to favourable anatomical and functional outcomes in patients with uveitis regardless of whether the ILM is peeled or not. As in most patients, no activation of the uveitis requiring additional medications was noted, we do not recommend changes in anti-inflammatory/immunosuppressive therapy postoperatively