scholarly journals The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study

2016 ◽  
Vol 43 (4) ◽  
pp. 567-573 ◽  
Author(s):  
Peter Humphreys ◽  
Nick Barrowman
Keyword(s):  
Acetic Acid ◽  
Rett Syndrome ◽  
Muscle Tone ◽  
Regional Distribution ◽  
Missense Mutations ◽  
Prospective Evaluation ◽  
Cross Sectional ◽  
Small Subgroup ◽  
Csf Hva ◽  
Csf Homovanillic Acid

AbstractBackground: Patients with Rett syndrome (RTT) may demonstrate parkinsonian features. Here, we report a preliminary cross-sectional and prospective evaluation of the evolution, regional distribution, and eventual incidence of rigid tone in a cohort of MECP2 mutation-positive patients. Methods: In 51 participants, muscle tone rigidity in extremity regions and neck plus hypomimia were quantified using an RTT rigidity distribution (RTTRD) score with a range of 0 to 15. RTTRD scores were correlated with age, ability to walk and speak, mutation type, and, in a small subgroup (n=9), cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole-acetic acid levels. Results: Participant ages ranged from 2 years and 5 months, to 54 years. Rigidity was found in 43/51 (84.3%); it appeared as early as age 3, increased in extent with age, and was present in all participants aged ≥13. Ankle region rigidity appeared first, followed by proximal legs, arms, neck, and face. Ambulatory participants (n=21) had lower RTTRD scores than nonambulatory (n=30; p=0.003). We found a trend to lower scores in participants with retained speech (n=13) versus those with none (n=38; p=0.074), and no difference in scores for those with truncating (n=25) versus missense mutations (n=22; p=0.387). RTTRD scores correlated negatively with CSF HVA levels (R=−0.83; p=0.005), but not with 5-hydroxyindole-acetic acid levels (R=−0.45; p=0.22). Conclusions: Although assessment of muscle tone is somewhat subjective and the RTTRD has not been validated, this study nevertheless suggests that parkinsonian rigidity in RTT is common and frequently increases in extent with age; its severity correlates directly with impaired ambulation and inversely with CSF HVA levels.

Airway geometry by analysis of acoustic pulse response measurements

1977 ◽  
Vol 43 (3) ◽  
pp. 523-536 ◽  
Author(s):  
A. C. Jackson ◽  
J. P. Butler ◽  
E. J. Millet ◽  
F. G. Hoppin ◽  
S. V. Dawson
Keyword(s):  
Distance Function ◽  
Muscle Tone ◽  
Acoustic Pulse ◽  
Air Trapping ◽  
Cross Sectional ◽  
High Frequency Oscillations ◽  
Structure Changes ◽  
Equivalent Structure ◽  
Rigid Walls ◽  
Central Airway

Serial distribution of airway properties determines in part the response of the lung to high frequency oscillations. We measured the response of excised dog lungs and lobes between 156 and 10,000 Hz and determined the area-distance function of the acoustically equivalent structure having rigid walls, regular branching, and negligible internal losses. The utility of this techique was tested by determining the effects of air trapping, removal of pleura from a dried lung, central airway smooth muscle tone. A strong correlation was found between relative changes in equivalent acoustic area and relative area changes measured radiographically in individual airways at corresponding distances. We conclude that despite departures of the properties of the real lung from the characteristics of the acoustically equivalent structure, changes in the area-distance function computed by this technique provide reasonable estimates of the magnitude and serial distribution of actual changes in airway cross-sectional area.

scholarly journals Walking and postural balance in adults with severe short stature due to isolated GH deficiency

2019 ◽  
Vol 8 (4) ◽  
pp. 416-424 ◽  
Author(s):  
Ananda A Santana-Ribeiro ◽  
Giulliani A Moreira-Brasileiro ◽  
Manuel H Aguiar-Oliveira ◽  
Roberto Salvatori ◽  
Vitor O Carvalho ◽  
...  
Keyword(s):  
Short Stature ◽  
Postural Balance ◽  
Fall Risk ◽  
Gh Deficiency ◽  
Muscle Tone ◽  
Receptor Gene ◽  
Leg Length ◽  
Timed Up And Go ◽  
Cross Sectional ◽  
Severe Short Stature

Objectives Walking and postural balance are extremely important to obtain food and to work. Both are critical for quality of life and ability to survive. While walking reflects musculoskeletal and cardiopulmonary systems, postural balance depends on body size, muscle tone, visual, vestibular and nervous systems. Since GH and IGF-I act on all these systems, we decided to study those parameters in a cohort of individuals with severe short stature due to untreated isolated GH deficiency (IGHD) caused by a mutation in the GHRH receptor gene. These IGHD subjects, despite reduction in muscle mass, are very active and have normal longevity. Methods In a cross-sectional study, we assessed walking (by a 6-min walk test), postural balance (by force platform) and fall risk (by the 'Timed Up and Go' test) in 31 IGHD and 40 matched health controls. Results The percentage of the walked distance measured in relation to the predicted one was similar in groups, but higher in IGHD, when corrected by the leg length. Absolute postural balance data showed similar velocity of unipodal support in the two groups, and better values, with open and closed eyes and unipodal support, in IGHD, but these differences became non-significant when corrected for height and lower-limb length. The time in 'Timed Up and Go' test was higher in IGHD cohort, but still below the cut-off value for fall risk. Conclusion IGHD subjects exhibit satisfactory walking and postural balance, without increase in fall risk.

scholarly journals Comparative evaluation of test characteristics of acetic acid, lugol’s iodine and toluidine blue stains in cervical cancer screening

2017 ◽  
Vol 6 (11) ◽  
pp. 4857
Author(s):  
Ankita Kumari ◽  
Neha Singh ◽  
Shaila Mitra ◽  
Reena Srivastav
Keyword(s):  
Cervical Cancer ◽  
Acetic Acid ◽  
Toluidine Blue ◽  
Visual Inspection ◽  
Pap Smear ◽  
Invasive Cervical Cancer ◽  
Signs And Symptoms ◽  
Diagnostic Efficacy ◽  
Cross Sectional ◽  
Lugol’S Iodine

Background: Cervical cancer rank second in female cancer and India alone account for one fourth of the global cervical cancer burden. The study was aimed to evaluate the diagnostic efficacy of acetic acid (3%), lugol’s iodine and toluidine blue (1%) in detection of abnormal cervical lesions.Methods: This cross-sectional study was conducted in the Department of Obstetrics and Gynecology, BRD Medical College, Gorakhpur over a period of one year from July 2016 to June 2017. The study included 200 women in age group 20-60 years with signs and symptoms suspicious of abnormal cervical lesion. The cases were subjected to detailed history, clinical examination, Pap smear, Visual inspection test, colposcopy followed by cervical biopsy.Results: Out of total 200 patients, 114 patients had acetowhite area on VIA (visual inspection with acetic acid) test, 113 were VILI (visual inspection with lugol’s iodine) positive and 107 women stained positive with Toluidine blue but only 88 showed biopsy proven pre-invasive and invasive lesions. So, sensitivity of acetic acid, lugol’s iodine and Toluidine blue was 81.8%, 84.09% and 90.9% respectively. Similarly, the specificity of the three stains were 62.5%, 65.17% and 75.8% respectively.Conclusions: Toluidine blue (1%) has proved to be significantly more sensitive and specific stain as compared to acetic acid (3%) and lugol’s iodine (50% dilution) in diagnosing pre-invasive and invasive cervical cancer. Hence, it may aid as an important tool in screening and treating precancerous and cancerous lesions.

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

2019 ◽  
Vol 32 (9) ◽  
pp. 959-967 ◽  
Author(s):  
Jaya Sujatha Gopal-Kothandapani ◽  
Arpan B. Doshi ◽  
Kath Smith ◽  
Martin Christian ◽  
Talat Mushtaq ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Phenotypic Diversity ◽  
Novel Mutation ◽  
British Society ◽  
Type I ◽  
Missense Mutations ◽  
Cross Sectional Survey ◽  
Marked Rise ◽  
Cross Sectional ◽  
Serum Aldosterone

Abstract Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance to aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b or systemic PHA). Our aim was to review the clinical presentation related to the genotype in patients with PHA1. Methods A questionnaire-based cross-sectional survey was undertaken through the British Society of Paediatric Endocrinology and Diabetes (BSPED) examining the clinical presentation and management of patients with genetically confirmed PHA1. We also reviewed previously reported patients where genotypic and phenotypic information were reported. Results Genetic confirmation was made in 12 patients with PHA1; four had PHA1a, including one novel mutation in NR3C2; eight had PHA1b, including three with novel mutations in SCNN1A and one novel mutation in SCNN1B. It was impossible to differentiate between types of PHA1 from early clinical presentation or the biochemical and hormonal profile. Patients presenting with missense mutations of SCNN1A and SCNN1B had a less marked rise in serum aldosterone suggesting preservation in sodium epithelial channel function. Conclusions We advocate early genetic testing in patients with presumed PHA1, given the challenges in differentiating between patients with PHA1a and PHA1b. Clinical course differs between patients with NR3C2 and SCNN1A mutations with a poorer prognosis in those with multisystem PHA. There were no obvious genotype-phenotype correlations between mutations on the same gene in our cohort and others, although a lower serum aldosterone may suggest a missense mutation in SCNN1 in patients with PHA1b.

scholarly journals Motor function evaluation of hydrocephalus children

2011 ◽  
Vol 30 (04) ◽  
pp. 158-162
Author(s):  
Aida Carla Santana de Melo Costa ◽  
Carlos Umberto Pereira ◽  
Edna Aragão Farias Cândido
Keyword(s):  
Motor Function ◽  
Muscle Tone ◽  
Functional Condition ◽  
University Hospital ◽  
Function Evaluation ◽  
Normal Muscle ◽  
Cross Sectional ◽  
Functional Activities ◽  
Normal Tone ◽  
The University

Abstract Objectives: To evaluate the kinetic functional condition of children with hydrocephalus; to identify the condition of the muscle tone; to verify the static and dynamic functional activities; and to verify the association between tone changes and functional activities. Method: A cross-sectional, descriptive, exploratory and field study, using qualitative and quantitative approach, performed at the University Hospital in Aracaju city, from August 2009 to March 2010. Results: From 50 evaluated children, 30 (60%) had hypertonia; 10 (20%) were hypotonic; and 10 (20%) did not show muscle tone alteration. The age average was considerably lesser in hypertonic children and higher in hypotonic and without tone alteration children. The average of carried through surgeries was more expressive in hypertonic children. Motor sequels had been present in 92% of the sample. The static functional activities, as well as dynamic functional activities, were lower in hypertonic children (p < 0,0001) and higher in hypotonic and normal tone children. Conclusions: Muscle tone exacerbation is more present in hydrocephalus children and motor function is impaired, being the neuropsychomotor development delayed more evident in spastic children group and less pronounced in children with normal muscle tone.

scholarly journals Methods used to conduct the pan-European Union survey on consumer attitudes to physical activity, body weight and health

1999 ◽  
Vol 2 (1a) ◽  
pp. 79-86 ◽  
Author(s):  
JM Kearney ◽  
MJ Kearney ◽  
S McElhone ◽  
MJ Gibney
Keyword(s):  
Physical Activity ◽  
Body Weight ◽  
Sample Selection ◽  
Regional Distribution ◽  
Consumer Attitudes ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Nationally Representative ◽  
Population Weight ◽  
The Eu

AbstractObjectiveThe purpose of conducting this survey was to identify data on consumer attitudes towards and beliefs about physical activity, body weight and health among the 15 countries of the EU.DesignA cross-sectional study to get a picture of the attitudes to physical activity, body weight and health in the EU. For this, it was considered important that samples be nationally representative so that inferences drawn from the data could be applied to the population in each country as well as to the EU population as a whole. Using a non-probability sampling method employing quota controls (and the national weight) we obtained large sample sizes from each country which were nationally representative in terms of the variables age, sex and regional distribution. To ensure samples were truly nationally representative a national weight was used when analysing the data using the same characteristics as those used to define quotas. When examining pooled estimates for the total EU sample a population weight was applied.ResultsIn total, 15 239 subjects aged 15 years and upwards in the EU completed the survey. This article gives details on the methods used in carrying out the survey from design of the questionnaire to sample selection, questionnaire administration and analysis of the data. The methods and their limitations are discussed.

scholarly journals Clinical Profile of Brain Tumour in Children

2017 ◽  
Vol 8 (1) ◽  
pp. 8-12
Author(s):  
Shakila Sharmin ◽  
Nazma Begum ◽  
Soofia Khatoon
Keyword(s):  
Brain Tumour ◽  
Behavioral Change ◽  
Muscle Power ◽  
Muscle Tone ◽  
Growth Failure ◽  
Clinical Profile ◽  
Gait Disturbance ◽  
Mri Findings ◽  
Cross Sectional ◽  
Female Ratio

Background: This study was designed to evaluate the clinical profile and location of brain tumours in children so that brain tumour cases could be diagnosed and managed earlier.Materials and Methods: This cross sectional study was carried out from April 2011 to April 2012. A total 50 clinically suspected cases of brain tumour and supported by MRI were enrolled in this study.Results: Brain tumour of children was predominant in male where male to female ratio was almost 1.9:1. Supratentorial and Infratentorial brain tumour were found in 36% and 64% cases respectively in children. According to MRI findings in the supratentorial location, craniopharyngioma were commonest (50%) followed by cerebral astrocytoma (22.2%). In the infratentorial region, medulloblastoma was observed in (40.6%), followed by cerebellar astrocytoma (31.3%). Vertigo, weakness of limbs were found in 46.9% and 87.5% cases respectively in infratentorial group which were significantly (p<0.05) higher than supratentorial group. Growth failure and behavioral change were found in 16.7% and 22.2% cases respectively in supratentorial which were significantly (p<0.05) higher than infratentorial group. Papilloedema, reduced muscle power, increased muscle tone, exaggerated deep reflexes, clonus, gait disturbance and cerebellar signs were significantly (p<0.05) higher in infratentorial group.Conclusion: Craniopharyngioma and medulloblastoma were more common findings in MRI evaluation in the supratentorial and infratentorial location respectively. Growth failure and behavioral change were found higher in supratentorial than infratentorial group. Vertigo, weakness of limbs, papilloedema, reduced muscle power, increased muscle tone, exaggerated deep reflexes, clonus, gait disturbance and cerebellar signs were higher in infratentorial group.J Shaheed Suhrawardy Med Coll, June 2016, Vol.8(1); 8-12

scholarly journals Relationship between attitudes to health, body weight and physical activity and level of physical activity in a nationally representative sample in the European Union

1999 ◽  
Vol 2 (1a) ◽  
pp. 97-103 ◽  
Author(s):  
BM Margetts ◽  
E Rogers ◽  
K Widhal ◽  
A-M Remaut de Winter ◽  
H-JF Zunft
Keyword(s):  
Physical Activity ◽  
Body Weight ◽  
Smoking Status ◽  
Regional Distribution ◽  
Activity Level ◽  
The European Union ◽  
Recreational Activity ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Activity Promotion

AbstractObjectiveTo explore the factors that influence attitudes and beliefs about the effects of body weight and physical activity on health.DesignCross-sectional survey using a face-to-face interview-assisted questionnaire.SettingThe survey was conducted between March and April 1997 in the 15 member states of the EU.SubjectsApproximately 1000 adults aged 15 years plus from each country were selected by quota-controlled sampling; the total sample was of 15 239 persons (7162 males and 8077 females). Data were weighted by population size for each country and by age, gender and regional distribution within countries.ResultsOverall 27% of men and 35% of women reported not engaging in any form of recreational activity; rates were highest in those with a primary-level education (37% men, 43% women) compared with tertiary-level education (20% men, 25% women). Recreational activity levels declined with age and tended to be lowest in those who were more physically active at work. Eighteen per cent of respondents believed that physical activity was one of the two greatest influences on health; 13% mentioned body weight, 38% mentioned food, 41% mentioned smoking and 33% mentioned stress. Logistic regression was used to assess for the effects of gender, age, educational level, body mass index (BMI), smoking status, activity level and country on beliefs that body weight and physical activity influenced health. Primary-educated, overweight, ex- and non-smoking women were most likely to mention body weight as an influence; young tertiary-educated, thinner, non-smoking and active males were most likely to mention physical activity. There was wide variation across Europe in reported behaviour and beliefs, which persisted after taking account of all of the other factors in the regression model.ConclusionsRelatively few people in some countries believed body weight and physical activity were important influences on health. Many people mentioned stress and it might be possible to use this interest to motivate changes in physical activity to relieve stress. It may be important to take a more integrated approach to activity patterns that consider the role of work and recreation. Although social and demographic factors were important, after adjusting for these factors there was still wide between-country variation in reported attitudes, beliefs and behaviour. This will need to be taken into account in any activity promotion campaigns.

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