scholarly journals Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients

Author(s):  
Marika Pane ◽  
Giorgia Coratti ◽  
Valeria A. Sansone ◽  
Sonia Messina ◽  
Michela Catteruccia ◽  
...  
Keyword(s):  
Type I ◽  
Author(s):  
Holger Frick ◽  
Pia Stieger ◽  
Christoph Scheidegger

More than 60 million specimens are housed in geological and biological collections in numerous museums and botanical gardens located all over Switzerland. They are of national and international origin. Taken together they form an entity with a high scientific value and international recognition for their contribution to scientific research. Due to the federalistic organisation of Switzerland, natural history collections are located and curated in numerous institutions. So far, no common strategy for digitisation, documentation and long-term data archiving has been developed. This shortcoming has been widely identified by concerned parties. Under the lead of the Swiss Academy of Sciences, several organisations have assembled information about Swiss natural history collections. They identified measures to be taken to promote the scientific and educational potential of natural history collections in Switzerland (Beer et al. 2019). With a national initiative, the Swiss Natural History Collections Network (SwissCollNet) aims to unite Swiss natural history collections under a common vision and with a common strategy. The goal is to promote the collections themselves and to harness the scientific and educational potential of these collections for research and training. SwissCollNet consists of representatives of research, teaching, museums and botanical gardens, the data centers for information on the national fauna and flora, the Swiss Systematics Society and the Swiss node of GBIF, the Global Biodiversity Information Facility. The initiative aims to foster research on natural history collections. It will provide a single decentralised data infrastructure framework for Swiss research related to natural history. It will help to harmonise nationwide collection data management, digitisation and long-term data archiving. It will facilitate identification of specimens and revision of taxonomic groups. New research techniques, fast-evolving computer technologies and internet connectivity, create new opportunities for deciphering and using the wealth of information housed in Swiss and international collections. The development of an agreed strategy and research priorities on a national scale will allow fluent, fluid and permanent collaboration across all Swiss natural history collections by promoting interoperability and unified access to collections as well as creating opportunities for scientific collaboration and innovation. This national approach will create an internationally compatible research data infrastructure, while respecting and integrating regional and decentralized conditions and requirements. Thus, it will maximize the impact for science, policy and society.


F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 96 ◽  
Author(s):  
Altaf Mangera ◽  
Nadir Osman ◽  
Christopher R. Chapple

Lichen sclerosus affecting the male genitalia is a poorly understood but potentially devastating condition. The natural history of the condition is beginning to be understood better with longer follow-up of patients. Recent long-term data suggest that circumcision for lichen sclerosus limited to the prepuce may not be curative as was once thought. In addition, surgical treatments should be followed up for longer periods as recurrences may occur after urethroplasty and perineal urethrostomy.


1998 ◽  
Vol 5 (4) ◽  
pp. 299-309 ◽  
Author(s):  
Marilyn C. Kincaid

Background Malignant melanoma of the uveal tract is a rare malignancy but a significant cause of mortality and visual loss. Approximately 50% of patients diagnosed with a melanoma of the choroid or ciliary body will die of the disease within 15 years of enucleation. Methods The author reviewed the current literature on the clinical findings, epidemiology, and treatment of uveal melanoma. Results Methods of diagnosis have improved substantially in the past several years, although clinical diagnosis by an experienced examiner remains the standard in eyes with clear media. Ultrasound is the most useful adjunctive technique. While enucleation has been the mainstay of therapeutic intervention, alternative therapies – especially different types of irradiation – offer hope for tumor control and vision preservation. The Collaborative Ocular Melanoma Study, a multicenter national trial, is designed to provide long-term data on the natural history as well as therapeutic intervention. Conclusions Malignant melanoma of the uveal tract can be diagnosed clinically with more confidence than ever before. It is also possible in many cases to retain the eye and functional vision while controlling the tumor. However, unanswered questions remain about the natural history and optimal therapy of uveal melanoma.


VASA ◽  
2001 ◽  
Vol 30 (Supplement 58) ◽  
pp. 6-14 ◽  
Author(s):  
Edmonds ◽  
Foster

The diabetic ischaemic foot has become an increasingly frequent problem over the last decade. However, we report a new approach consisting of a basic classification, a simple staging system of the natural history and a treatment plan for each stage, within a multi-disciplinary framework. This approach of "taking control" consists of two parts: 1. long-term conservative care including debridement of ulcers (to obtain wound control), eradication of sepsis (micribiological control), and provision of therapeutic footwear (mechanical control), and 2. revascularisation by angioplasty and arterial bypass (vascular control). This approach has led to a 50% reduction in the rate of major amputations in patients attending with ischaemic ulceration and absent foot pulses from 1989 to 1999 (from 4.6% to 2.3% per year). Patients who underwent angioplasty increased from 6% to 13%. Arterial bypass similarly increased from 3% to 7% of cases. However, even with an increased rate of revascularisation, 80% of patients responded to conservative care alone. This,we conclude, is an essential part of the management of all patients with ischaemic feet.


2018 ◽  
Vol 4 (4) ◽  
pp. 519-522
Author(s):  
Jeyakumar S ◽  
Jagatheesan Alagesan ◽  
T.S. Muthukumar

Background: Frozen shoulder is disorder of the connective tissue that limits the normal Range of motion of the shoulder in diabetes, frozen shoulder is thought to be caused by changes to the collagen in the shoulder joint as a result of long term Hypoglycemia. Mobilization is a therapeutic movement of the joint. The goal is to restore normal joint motion and rhythm. The use of mobilization with movement for peripheral joints was developed by mulligan. This technique combines a sustained application of manual technique “gliding” force to the joint with concurrent physiologic motion of joint, either actively or passively. This study aims to find out the effects of mobilization with movement and end range mobilization in frozen shoulder in Type I diabetics. Materials and Methods: 30 subjects both male and female, suffering with shoulder pain and clinically diagnosed with frozen shoulder was recruited for the study and divided into two groups with 15 patients each based on convenient sampling method. Group A patients received mobilization with movement and Group B patients received end range mobilization for three weeks. The outcome measurements were SPADI, Functional hand to back scale, abduction range of motion using goniometer and VAS. Results: The mean values of all parameters showed significant differences in group A as compared to group B in terms of decreased pain, increased abduction range and other outcome measures. Conclusion: Based on the results it has been concluded that treating the type 1 diabetic patient with frozen shoulder, mobilization with movement exercise shows better results than end range mobilization in reducing pain and increase functional activities and mobility in frozen shoulder.


2019 ◽  
Author(s):  
Ayesha Shaikh ◽  
Natasha Shrikrishnapalasuriyar ◽  
Giselle Sharaf ◽  
David Price ◽  
Maneesh Udiawar ◽  
...  

Author(s):  
Ricardo Sánchez-Murillo

This study presents a hydrogeochemical analysis of spring responses (2013-2017) in the tropical mountainous region of the Central Valley of Costa Rica. The isotopic distribution of δ18O and δ2H in rainfall resulted in a highly significant meteoric water line: δ2H = 7.93×δ18O + 10.37 (r2=0.97). Rainfall isotope composition exhibited a strong dependent seasonality. The isotopic variation (δ18O) of two springs within the Barva aquifer was simulated using the FlowPC program to determine mean transit times (MTTs). Exponential-piston and dispersion distribution functions provided the best-fit to the observed isotopic composition at Flores and Sacramento springs, respectively. MTTs corresponded to 1.23±0.03 (Sacramento) and 1.42±0.04 (Flores) years. The greater MTT was represented by a homogeneous geochemical composition at Flores, whereas the smaller MTT at Sacramento is reflected in a more variable geochemical response. The results may be used to enhance modelling efforts in central Costa Rica, whereby scarcity of long-term data limits water resources management plans.


Diabetes ◽  
1984 ◽  
Vol 33 (4) ◽  
pp. 394-400 ◽  
Author(s):  
G. Bolli ◽  
P. De Feo ◽  
S. De Cosmo ◽  
G. Perriello ◽  
G. Angeletti ◽  
...  

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