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| 2. |
- Saadi, Saadia Maryam, et al.
(författare)
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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
- 2023
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 14:7
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Tidskriftsartikel (refereegranskat)abstract
- Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have been investigated using whole exome sequencing. Sanger sequencing was performed for segregation analysis in all the available individuals of each family. The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.1201C>T, BICD2: c.2156A>T, ALS2: c.2171-3T>G, ALS2: c.3145T>A, and B4GALNT1: c.334_335dup, and three already reported pathogenic variants; FA2H: c.159_176del, APTX: c.689T>G, and SETX: c.5308_5311del. The clinical features of all patients in each family are concurrent with the already reported cases. Hence, the current study expands the mutation spectrum of rare spinocerebellar disorders and implies the usefulness of next-generation sequencing in combination with clinical investigation for better diagnosis of these overlapping phenotypes.
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| 3. |
- Zafar, Hamayun, et al.
(författare)
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Influence of different jaw positions on dynamic balance using Y-balance test
- 2020
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Ingår i: Brain and Behavior. - : John Wiley & Sons. - 2162-3279 .- 2162-3279. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Jaw sensory‐motor system has been shown to affect static balance of the body. It would be interesting to know whether it can influence dynamic balance as well. The objective of this study is to examine the influence of different jaw positions on dynamic balance using the Y‐balance test.Methods: Eighty healthy male participants aged 20–35 years were invited to participate in this study. Dynamic balance was measured by the Y‐balance test in three directions (anterior, posteromedial, and posterolateral) for each leg separately in three jaw positions: resting jaw (control), open‐jaw, and clenched jaw.Results: There were no significant differences in reach distances between the different jaw positions except in the posterolateral direction. In comparison with resting jaw position, reach distance was significantly higher in open‐jaw position for the right leg and in clenched and open‐jaw positions for the left leg in the posterolateral direction.Conclusions: Although various studies have shown direct or indirect influence of jaw sensory‐motor system on static postural control, results of this study point to limited relation with dynamic postural control among healthy subjects. However, it supports the potential of the jaw sensory‐motor system to affect motor control during functional tasks in patients with postural instability or similar disorders.
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| 4. |
- Alghadir, Ahmad, et al.
(författare)
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Effect of chewing on postural stability during quiet standing in healthy young males
- 2015
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Ingår i: Somatosensory & motor research. - : Informa UK Limited. - 0899-0220 .- 1369-1651. ; 32:2, s. 72-76
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Tidskriftsartikel (refereegranskat)abstract
- Background and aims: There is an important role of the neck sensory motor system in control of body posture and balance, and it is reasonable to believe that the jaw sensory motor system can directly and indirectly influence the modulation of the postural control system. The purpose of this study was to evaluate possible effects of dynamic jaw position while chewing on the postural control system. Materials and methods: We compared the mean center of gravity (COG) velocity during quite standing on a foam surface with eyes closed during three test conditions: (i) with resting jaw position, (ii) with open jaw position, and (iii) while chewing standard bolus of chewing gum. One hundred and sixteen normal healthy male subjects (average age 31.56 +/- 8.51 years; height 170.86 +/- 7.26 cm) were recruited for the study. Their COG velocity (deg/s) was measured using the NeuroCom (R) Balance Master Version 8.5.0 (Clackamas, OR, USA). Statistical analysis: Data was tested by the Friedman test. Results and conclusions. The results show that COG velocity decreased significantly while chewing in comparison to both open and resting jaw position (p < 0.0001). Our finding corroborates previous studies and suggests that the jaw sensory motor system can modulate postural control mechanisms. Gum chewing activity can enhance the postural stability during upright standing on an unstable surface and in the absence of visual input in healthy young adults. Our results should be taken into consideration in treatment and rehabilitation planning for patients with postural instability.
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| 5. |
- Alghadir, Ahmad, et al.
(författare)
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Effect of sitting postures and shoulder position on the cervicocephalic kinesthesia in healthy young males
- 2016
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Ingår i: Somatosensory & motor research. - : Informa UK Limited. - 0899-0220 .- 1369-1651. ; 33:2, s. 93-98
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Tidskriftsartikel (refereegranskat)abstract
- Information about head orientation, position, and movement with respect to the trunk relies on the visual, vestibular, extensive muscular, and articular proprioceptive system of the neck. Various factors can affect proprioception since it is the function of afferent integration, and tuning of muscular and articular receptors. Pain, muscle fatigue, and joint position have been shown to affect proprioceptive capacity. Thus, it can be speculated that changes in body posture can alter the neck proprioception. This study was undertaken to investigate the effect of body posture on cervicocephalic kinesthetic sense in healthy subjects. Cervicocephalic kinesthetic sensibility was measured by the kinesthetic sensibility test in healthy young adults while in (a) habitual slouched sitting position with arms hanging by the side (SS), (b) habitual slouched sitting position with arms unloaded (supported) (SS-AS), and (c) upright sitting position with arms hanging by the side (US) during maximum and 30 degree right, left rotations, flexion, and extension. Thirty healthy male adults (mean age 27.83; SD 3.41) volunteered for this study. The least mean error was found for the SS-AS position (0.48; SD 0.24), followed by SS (0.60; SD 0.43) and US (0.96; SD 0.71), respectively. For all test conditions, there was significant difference in mean absolute error while head repositioning from maximum and 30 degree rotation during SS and SS-AS positions (p<0.05). In conclusion, body posture can affect the proprioception function of the neck. Supporting the upper extremities in such a way that their weight is unloaded, which leads to reduction in the tension between the neck and shoulder girdle, can improve cervicocephalic kinesthetic sense in both the horizontal and vertical planes. The findings of this study can be implemented in people who have to do repeated arm and neck movements, by using ergonomically effective chairs with proper arm supports. This might help in prevention and treatment of neck pain.
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| 6. |
- Alghadir, Ahmad, et al.
(författare)
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Effect of upright and slouch sitting postures and voluntary teeth clenching on hand grip strength in young male adults
- 2017
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Ingår i: Journal of Back and Musculoskeletal Rehabilitation. - : IOS PRESS. - 1053-8127 .- 1878-6324. ; 30:5, s. 961-965
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Estimation of handgrip strength (HGS) is routinely used by clinicians and epidemiologists for objective assessment of functional status of hand and upper extremity. It is also used as an indirect indicator of overall physical strength and health status in variety of clinical situations and chronic general medical conditions. OBJECTIVE: The present study was conducted to examine the effects of upright and slouch sitting postures and voluntary teeth clenching on hand grip strength in healthy young male subjects. METHODS: One hundred healthy young males (aged 18-30 years) participated in this study. The HGS was measured using a commercially available dynamometer for the dominant hand. The HGS was measured during four test conditions; (a) slouch sitting without teeth contact, (b) slouch sitting with teeth clenching, (c) upright sitting without teeth contact, and (d) upright sitting with teeth clenching. RESULTS: The HGS values were significantly higher during slouch than upright sitting posture, both during similar and opposite teeth related conditions (p < 0.001). Teeth clenching had no effect on the in HGS values during slouch or upright sitting posture (P > 0.05). CONCLUSIONS: As compared to upright sitting, higher HGS values can be obtained during slouch sitting in young healthy males. Teeth clenching does not affect the HGS values during slouch or upright sitting posture.
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| 7. |
- Alghadir, Ahmad H., et al.
(författare)
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Can jaw position affect the fine motor activity of the hand during writing?
- 2020
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Ingår i: Brain and Behavior. - : John Wiley & Sons. - 2162-3279 .- 2162-3279. ; 10:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Jaw and neck systems have been shown to be functionally related and changes in either system can modulate gross motor functions, such as posture control. It remains to be seen if any change in jaw position can affect fine motor skills. The objective of this study was to determine the effect of resting, open and clenched jaw positions on various handwriting parameters while standing on firm and unstable surfaces.Methods: Handwriting samples were collected from 36 healthy male participants (age, 15-35 years) using a digitizer tablet (WACOM Intuos 4) with noninking pen in the resting, open and clenched jaw positions while standing on firm and unstable surfaces. The measured handwriting parameters included duration, vertical size, horizontal size, absolute size, average absolute velocity, and absolute jerk. Recordings and analyses were performed using NeuroScript MovAlyzeR software.Results: All handwriting parameters varied among the resting, open, and clenched jaw positions on both the firm and unstable surfaces. However, based on statistical analyses, there were no significant differences in the handwriting parameters among three jaw positions on both surfaces (p > .05).Conclusion: This study revealed that all handwriting parameters varied among the resting, open, and clenched jaw positions on both the firm and unstable surfaces, showing that change in the jaw motor system may potentially affect the fine motor skills. However, on statistical analysis, there was no significant effect of 3 studied jaw positions on fine motor skills as seen on gross motor skills among healthy individuals.
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| 8. |
- Alghadir, A. H., et al.
(författare)
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Effect of localised vibration on muscle strength in healthy adults : a systematic review
- 2018
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Ingår i: Physiotherapy. - : Elsevier. - 0031-9406 .- 1873-1465. ; 104:1, s. 18-24
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Forskningsöversikt (refereegranskat)abstract
- Objective To investigate the effects of local vibration on muscle strength in healthy adults.Data sources The electronic databases PubMed, CINAHL, Scopus and Web of Science were searched using a combination of the following keywords: vibration, vibration therapy, power, maximal voluntary contraction, performance, rate of force development and vibratory exercise. In addition, the Medical Subject Headings 'vibration', 'strength' and 'exercise' were used. The bibliographical search was limited to articles published in English.Study selection Trials that evaluated the effect of localised vibration on muscle strength in healthy humans were included.Data extraction Two independent evaluators verified the quality of the selected studies using the PEDro Scale and the Cochrane Collaboration's tool for assessing the risk of bias. Muscle strength was calculated for each intervention.Results In total, 29 full-text studies were assessed for eligibility. Eighteen studies did not match the inclusion criteria, and were excluded. The 11 studies included in this review had an average PEDro score of 5.36/10. Most of the studies reported significant improvements in muscle strength after the application of local vibration. There was considerable variation in the vibration training parameters and target muscle location.Conclusions The use of local vibration on the target muscle can enhance muscle strength in healthy adults. Further well-designed controlled studies are required to confirm the effect of local vibration training on muscle strength.
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| 9. |
- Alghadir, Ahmad H., et al.
(författare)
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Effect of three different jaw positions on postural stability during standing
- 2015
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Ingår i: Functional Neurology. - 0393-5264 .- 1971-3274. ; 30:1, s. 53-57
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Tidskriftsartikel (refereegranskat)abstract
- Studies in the literature show that jaw and neck regions are linked anatomically, biomechanically and neurologically. Voluntary clenching has been shown to improve muscle strength and performance of various motor tasks. Information from the neck sensory-motor system is reported to be important for posture. Hence it is reasonable to believe that activation of the jaw sensory-motor system has the potential to modulate posture. In a sample of 116 healthy subjects, we compared center of gravity (COG) velocity during quiet standing on a foam surface during three test positions: i) resting jaw, ii) open jaw, and iii) clenching; these were tested in two conditions: with eyes open and with eyes closed. The COG velocity decreased significantly during clenching in comparison to both open and resting jaw positions (p<0.0001). This suggests that the jaw sensory-motor system can modulate postural mechanisms. We conclude that jaw clenching can enhance postural stability during standing on an unstable surface in both the presence and absence of visual input in healthy adults and suggest that this should be taken into consideration in treatment and rehabilitation planning for patients with postural instability.
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| 10. |
- Alghadir, Ahmad H., et al.
(författare)
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Effect of tongue position on postural stability during quiet standing in healthy young males
- 2015
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Ingår i: Somatosensory & motor research. - : Informa UK Limited. - 0899-0220 .- 1369-1651. ; 32:3, s. 183-186
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Tidskriftsartikel (refereegranskat)abstract
- Background and aims: Role of the neck and jaw sensory motor system in control of body balance has been established. Tongue is an integral part of jaw sensory motor system and helps in execution of purposeful and precise motor tasks like eating, drinking and speaking. The purpose of this study was to evaluate the possible effects of tongue position on the postural control system. Materials and method: We compared the mean center of gravity (COG) velocity during quiet standing on an unstable surface with eyes closed during two test conditions: (i) with habitual jaw resting position and (ii) with instructed tongue positioned against the upper incisors. One hundred and sixteen normal healthy male subjects (average age 31.56 +/- 8.51 years and height 170.86 +/- 7.26 cm) participated in the study. Their COG velocity (deg/s) was measured using the NeuroCom (R) Balance Master version 8.5.0 (Clackamas, OR, USA). Results and conclusions: The results show that COG velocity decreased significantly while tongue was positioned against upper incisors in comparison to the habitual jaw resting position. Our findings suggest that the tongue positioning can modulate postural control mechanisms. Tongue positioning against the upper incisors can enhance the postural stability during upright standing on an unstable surface and in the absence of vision in healthy young adults. Our findings can be of value for evaluation and rehabilitation protocols for postural control dysfunction.
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