Electrophysiological evaluation of the peripheral and central pathways in patients with achondroplasia before and during a lower-limb lengthening procedure

In this paper we review the spectrum of spinal and peripheral nerve involvement secondary to achon- droplasia. Alongside conventional and computerised imaging techniques, electrophysiological investiga- tion may represent a useful, non-invasive approach in this clinical setting. Somatosensory evoked poten- tials (SEPs) and magnetic stimulation are valuable tools for studying spinal cord function. Neurophysio- logical abnormalities show a good correlation with the lesion level. Imaging techniques indicate that multiple malformation can affect the patient at the same time and SEPs help to determine the main site of involvement. Interestingly, these techniques are more sensitive than clinical evaluation in document- ing neurological impairment in patients with achon- droplasia prior to the manifestation of unmistakable signs. Callotasi has became a widely used and accept- ed procedure for limb lengthening. Extensive length- ening can be safely performed in patients with achon- droplasia once neurological impairment has been ruled out. In our experience, the presence of elec- trophysiological abnormalities calls for a compre- hensive surgical re-evaluation of the traditional pro- cedure, and sometimes exclusion of patients. Peripheral nerve involvement may occur during limb lengthening, and continuous nerve monitoring pro- vides useful insights into the pathophysiology of nerve damage

Assessment of Axial Postural Abnormalities in Parkinsonism: Automatic Picture Analysis Software

BackgroundSoftware-based measurements of axial postural abnormalities in Parkinson's disease (PD) are the gold standard but may be time-consuming and not always feasible in clinical practice. An automatic and reliable software to accurately obtain real-time spine flexion angles according to the recently proposed consensus-based criteria would be a useful tool for both research and clinical practice. ObjectiveWe aimed to develop and validate a new software based on Deep Neural Networks to perform automatic measures of PD axial postural abnormalities. MethodsA total of 76 pictures from 55 PD patients with different degrees of anterior and lateral trunk flexion were used for the development and pilot validation of a new software called AutoPosturePD (APP); postural abnormalities were measured in lateral and posterior view using the freeware NeuroPostureApp (gold standard) and compared with the automatic measurement provided by the APP. Sensitivity and specificity for the diagnosis of camptocormia and Pisa syndrome were assessed. ResultsWe found an excellent agreement between the new APP and the gold standard for lateral trunk flexion (intraclass correlation coefficient [ICC] 0.960, IC95% 0.913-0.982, P < 0.001), anterior trunk flexion with thoracic fulcrum (ICC 0.929, IC95% 0.846-0.968, P < 0.001) and anterior trunk flexion with lumbar fulcrum (ICC 0.991, IC95% 0.962-0.997, P < 0.001). Sensitivity and specificity were 100% and 100% for detecting Pisa syndrome, 100% and 95.5% for camptocormia with thoracic fulcrum, 100% and 80.9% for camptocormia with lumbar fulcrum. ConclusionsAutoPosturePD is a valid tool for spine flexion measurement in PD, accurately supporting the diagnosis of Pisa syndrome and camptocormia

The effect on the extracellular matrix of the deep fascia in response to leg lengthening

<p>Abstract</p> <p>Background</p> <p>Whereas the alterations of diverse tissues in cellular and molecular levels have been investigated during leg lengthening via microscopy and biochemical studies, little is known about the response of deep fascia. This study aims to investigate the changes of the extracellular matrix in deep fascia in response to leg lengthening.</p> <p>Methods</p> <p>Animal model of leg lengthening was established in New Zealand white rabbits. Distraction was initiated at a rate of 1 mm/day and 2 mm/day in two steps, and preceded until increases of 10% and 20% in the initial length of tibia had been achieved. Alcian blue stain and picrosirius-polarization method were used for the study of the extracellular matrix of deep fascia samples. Leica DM LA image analysis system was used to investigate the quantitative changes of collagen type I and III.</p> <p>Results</p> <p>Alcian blue stain showed that glycosaminoglycans of fascia of each group were composed of chondroitin sulphate and heparin sulphate, but not of keratan sulphate. Under the polarization microscopy, the fascia consisted mainly of collagen type I. After leg lengthening, the percentage of collagen type III increased. The most similar collagen composition of the fascia to that of the normal fascia was detected at a 20% increase in tibia length achieved via a distraction rate of 1 mm/d.</p> <p>Conclusion</p> <p>The changes in collagen distribution and composition occur in deep fascia during leg lengthening. Although different lengthening schemes resulted in varied matrix changes, the most comparable collagen composition to be demonstrated under the scheme of a distraction rate of 1 mm/day and 20% increase in tibia length. Efficient fascia regeneration is initiated only in certain combinations of the leg load parameters including appropriate intensity and duration time, e.g., either low density distraction that persist a relatively short time or high distraction rates.</p

Education, Culture and Learning in Response to Conflict and Protracted Crisis

Panel Session on ‘Education, Culture and Learning in Response to Conflict and Protracted Crisis’ at the Annual CIES Conference 2021. Chaired by Moskal, five papers addressed both the lived experiences and actions - in policy and practice - in conflict, post-conflict and UK contexts. A discussant (Odena) offered reflections on common threads and issues to reconsider, drawing on his experience leading The Arts of Inclusion network. Presenters examined youth policies in Colombia and Mexico (Arizpe &amp; Gormally), experiences of doctoral students from Middle-Eastern conflict zones in the UK (Pacheco), skills development of refugees in India (Dagar), Arabic teaching with refugees in Italy (Aldegheri), and workshops with Syrian and Iraqi refugees at a UK university (Moskal). These studies engage in discussions of issues confronting youth in particular, their wellbeing, aspirations, learning and skills development. The papers contribute understanding to education in crises, one of the major global challenges in achieving the Sustainable Development Goals (SDG4). Education is crucial in establishing peace-building processes, and for the wellbeing and economic integration of all individuals affected by conflict. Formal and non-formal learning has a strategic role to play in peace building, and promotion of equity and diversity

Pharmacological characterisation of MDI-222, a novel AMPA receptor positive allosteric modulator with an improved safety profile

There is considerable interest in positive allosteric modulators (PAMs) of the α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) subtype of ionotropic glutamate receptors as therapeutic agents for a range of cognitive and mood disorders. However, the challenge is to increase AMPA receptor (AMPAR) function sufficient to enhance cognitive function but not to the extent that there are mechanism-related pro-convulsant or convulsant side effects. In this present study, we report the preclinical pharmacology data for MDI-222, an AMPAR PAM which enhances cognition but has a much reduced side-effect (i.e. convulsant) liability relative to other molecules of this mechanism

Growth rate after limb deformity correction by the Ilizarov method with or without knee joint distraction: Lengthening in 30 children followed for at least 2 years

Background and purpose Growth inhibition and stimulation have both been reported after juvenile limb lengthening. Distraction of a joint usually suspends and unloads the growth plate and may stimulate growth. We investigated the influence of knee joint distraction on the speed of growth after limb lengthening

Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis)

BACKGROUND: To examine the subjective health status of adults with short stature (ShSt) and compare with the general population (GP) and one well-known chronic disease, rheumatoid artritis (RA). In addition, to explore the association between age, gender, height, educational level and different aspects of health status of adults with short stature. METHODS: A questionnaire was mailed to 72 subjects with short stature registered in the database of a Norwegian resource centre for rare disorders, response rate 61% (n = 44, age 16–61). Health status was assessed with SF-36 version 2. Comparison was done with age and gender matched samples from the general population in Norway (n = 264) and from subjects with RA (n = 88). RESULTS: The ShSt sample reported statistically significant impaired health status in all SF-36 subscales compared with the GP sample, most in the physical functioning, Mean Difference (MD) 34 (95% Confidence Interval (CI) 25–44). The ShSt reported poorer health status in mental health, MD 11 (95% CI 4–18) and social functioning, MD 11 (95% CI 2–20) but better in role physical MD 13 (95% CI 1–25) than the RA sample. On the other subscales there were minor difference between the ShSt and the RA sample. Within the short stature group there was a significant association between age and all SF-36 physical subcales, height was significantly associated with physical functioning while level of education was significantly associated with mental health. CONCLUSION: People with short stature reported impaired health status in all SF-36 subscales indicating that they have health problems that influence their daily living. Health status seems to decline with increasing age, and earlier than in the general population