Dataset Information

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

ABSTRACT: INTRODUCTION:Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. T?here are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO. METHODS AND RESULTS:We report four patients who manifested early onset TALDO. They were monitored with systematic clinical and laboratory examinations for 4-13 years. The dominant feature was an early liver injury, with subsequent renal tubulopathy. All patients presented with osteopenia and poor physical development. Our data shows that polyol concentrations seem to decrease with age. CONCLUSIONS:In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.

SUBMITTER: Lipinski P

PROVIDER: S-EPMC6226391 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

Lipiński Patryk P Pawłowska Joanna J Stradomska Teresa T Ciara Elżbieta E Jankowska Irena I Socha Piotr P Tylki-Szymańska Anna A

JIMD reports 20180103

<h4>Introduction</h4>Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO.<h4>Methods and results</h4>We report four patients who manifested early onset TALDO. They ...[more]

PMID: 29292491

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Project description:The COVID -19 pandemic posed serious challenge for securing public health worldwide. Public health preparedness and restrictions put in place impacted many aspects of human life, including recreational activities and access to outdoor recreational destinations. Green spaces have become one of the few sources of resilience during the coronavirus crisis due to their restorative effects on psychophysical health and community well-being. The aim of this study is to analyse the impact of the COVID -19 pandemic on forest visitation. The results are based upon long-term visitor data acquired via pyroelectric sensors (Eco-Counter) in three forest districts located in Poland (Browsk, Gdansk & Kozienice Forest Districts). The analysis covers the period between January 01, 2019 and December 31, 2020 and the results confirm changes in recreational use in the studied forest areas during the pandemic compared to the preceding year. However, observed changes in forest visitation vary by pandemic period and study area. The ban on access to forest areas significantly reduced the number of forest visits in all studied areas. The number of visits to sub-urban forests (Gdansk Forest District) and to remote nature-based tourist destinations (Browsk Forest District) increased in the later pandemic periods, especially in the summer months of 2020, while it remained the same in a popular nearby recreation area: Kozienice Forest District. There were only minor temporal shifts in the distribution of weekly and daily visits. The results are important for public health preparedness planning in crisis situations and for provisioning conditions supporting societal health and well-being. Objective data on forest visits are necessary for successful management of forest areas and surrounding amenities. More cross-sector collaboration and public participation would be desirable to create sustainable, resilient, and liveable spaces for the society. Management Implications • Long-term visitation monitoring is crucial for successful management of outdoor recreation destinations and their catchment areas.• Objective numbers concerning forest visitation from the pre-pandemic and COVID-19 pandemic period allow observing trends and making fact-based management decisions during period of crisis.• Changes in the investigated three forest study areas in Poland were not homogenous, which implies the necessity of systematic visitor monitoring in multiple destinations, in order to cover different types of forest areas and also local diversity in recreational use.• More intersectoral, interdisciplinary and transdisciplinary exchange would be desirable to better integrate existing on-site visitor monitoring data into decision making processes related to forest management, urban planning, transportation, tourism and public health.

Project description:Introduction Four-corner arthrodesis with excision of the scaphoid is an accepted salvage procedure for scapholunate advanced collapse (SLAC) and scaphoid nonunion advanced collapse (SNAC) and has been performed in our unit for over 20 years. We have undertaken a retrospective review of 116 of these procedures performed in 110 patients between 1992 and 2009. Fifty-eight patients attended for a clinical evaluation, and 29 responded by postal questionnaire. Methods The surgical technique undertaken was standard. That is, through a dorsal approach the scaphoid and tip of the radial styloid were excised. The capitate, lunate, triquetrum, and hamate articular surfaces were then prepared down to bleeding bone. Bone grafts from the scaphoid and radial styloid were then inserted and fixation undertaken. For the latter, various methods were used, including Kirschner (K-)wires, staples, bone screws, but predominantly the Spider plate (Integra Life Sciences, USA). Thereafter the wrist was immobilized for a minimum period of 2 weeks prior to rehabilitation. Results Follow-up was done at a mean of 9 years and 4 months (range 3-19 years). All patients reported a significant improvement in pain relief and ∼50% of flexion extension, although only 40% of radioulnar deviation. Grip strength was again ∼50% of the contralateral side. Most patients reported a significant improvement in function with 87% returning to work. In addition, radiologic evaluation identified 28 patients (31%) who demonstrated ongoing signs of nonunion, particularly around the triquetrum. Fourteen of these (15%) underwent a further procedure, generally with success. Finally, none of the patients demonstrated any arthritic changes in the lunate fossa on follow-up X-ray, and all secondary procedures were undertaken within 2 years of the primary. Discussion This research has demonstrated that four-corner fusion fixed with a circular plate can result in a satisfactory outcome with a reduction in pain, a functional range of motion, and a satisfactory functional outcome. The bulk of the complications appear to occur in the first 2 years after surgery. Thereafter, analysis shows long-term satisfaction with little deterioration. Nonunion, particularly around the triquetrum, continues to be a problem, but it may be that this bone should be excised along with the scaphoid, resulting in a three-part fusion only. Alternatively, a simple capitolunate fusion may be satisfactory.

Dataset Information

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

Publications

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

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