An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

2016 ◽  
Vol 46 (3) ◽  
pp. 191-197 ◽  
Author(s):  
Nicola Vanacore ◽  
Emanuele Rastelli ◽  
Giovanni Antonini ◽  
Maria Laura Ester Bianchi ◽  
Annalisa Botta ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Age Distribution ◽  
Incomplete Penetrance ◽  
Descriptive Epidemiology ◽  
Disease Registry ◽  
Prevalence Estimates ◽  
The Mean ◽  
First Time ◽  
Ctg Repeat ◽  
Epidemiology Methods

Background: Prevalence estimates for the 2 forms of myotonic dystrophy types 1 and 2 (DM1 and DM2) are not exhaustive or non-available. Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of descriptive epidemiology. Methods: All patients with a molecular diagnosis of DM1/DM2 and residents in the Rome province in 2013 have been enrolled, and the age-standardized prevalence has been calculated, assuming a Poisson distribution and adjusting for age. Results: We identified 395 DM1 patients: the age-standardized prevalence for total, females and males was 9.65, 8.35 and 11.07/100,000, respectively. The mean age of subjects differed considerably according to CTG repeat length (p = 0.001). Forty DM2 patients were identified. The age-standardized prevalence for total, females and males was 0.99, 1.07 and 0.90/100,000, respectively. The mean age was 57.05. Conclusions: We estimated for the first time the age-standardized prevalence and the sex and age distribution of DM1 and DM2 in a general population. A higher prevalence of males in DM1 and females in DM2 and a higher mean age of DM2 patients (+8 years) were ascertained. Prevalence of DM2 was 10% that of DM1. These prevalence values are probably lower than mutational rates due to the incomplete penetrance of DM1 mutations and to the clinical elusiveness of DM2. Our findings will be useful in designing cohort studies and for developing a disease registry.

scholarly journals Congenital Phenotypes and DMPK CTG Repeat Number in Mothers and Children With Myotonic Dystrophy Type 1

2021 ◽  
Author(s):  
Kosuke Shigematsu ◽  
Yukiko Mikami ◽  
Yasushi Takai ◽  
Haipeng Huang ◽  
Mamiko Shinsaka ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Sequence ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Repeat Number ◽  
Congenital Myotonic Dystrophy ◽  
Mother And Child ◽  
The Mean ◽  
Ctg Repeat

Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease. In DM1, the mutant allele expands during gametogenesis, and an extended CTG repeat sequence is inherited by the offspring. This often results in increased severity of DM1 symptoms in the affected offspring and may cause congenital myotonic dystrophy (CDM). This study aimed to clarify whether CTG repeat number predicts CDM in offspring. This retrospective study examined 14 women with DM1, their pregnancy and labor histories, and their 14 children diagnosed with DM1. There were 12 CDM patients and 2 non-CDM patients. Correlations between CDM onset and CTG repeat numbers of the mother and child were analyzed. Women who bore a child with CDM (infants with detected polyhydramnios during pregnancy, hypotonia, respiratory insufficiency, or suckling failure at birth) had a mean repeat number of 643 (standard deviation [SD] 436). For women who bore a child without CDM, the mean repeat number was 950 (SD 71), and no significant between-group difference was detected. The mean (SD) CTG repeat numbers observed in children with and without CDM were 1,646 (324) and 1,700 (565), respectively. CDM cannot be predicted based on the CTG repeat numbers of mothers or children.

RESULTS OF INTRALESIONAL TRIAMCINOLONE ACETONIDE FOR CHALAZION TREATMENT

2011 ◽  
pp. 100-104
Author(s):  
Thi Thu Nguyen ◽  
Viet Hien Vo ◽  
Thi Em Do
Keyword(s):  
Success Rate ◽  
Key Words ◽  
Triamcinolone Acetonide ◽  
Lower Eyelid ◽  
Upper Eyelid ◽  
Interventional Trial ◽  
The Mean ◽  
First Time

The study use intralesional triamcinolone acetonide injection proceduce for chalazion treatment.1. Objectives: To evaluate results of intralesional triamcinolone acetonide injection for chalazion treatment. 2. Method: This noncomparative prospective interventional trial included 72 chalazions of 61 patients. 3. Results: 61 patients (72 chalazions) with 19 males (31.1%) và 42 females (68.9%), the mean age was 24 ± 9,78 years. 31.1% patients was the first time chalazion and 68.9% patients was more than one times chalazion including 78.6% patients was recurrent at the first position and 21.4% patients occur at new position. 72 chalazions with 16 (22.2%) chalazions was treated before and 56 (77.8%) chalazions wasn’t done that. 72 chalazions with 49 chalazions (68.1%) are local in upper eyelid and 23 chalazions (31.9%) are local in lower eyelid. The mean of chalazion diameter is 6.99 ± 3.03mm. Intralesional triamcinolone acetonide is injected to treat 72 chalazions with 16 (22.2%) chalazions are injected through the route of skin and 56 (77.8%) chalazions are injected through the route of conjunctiva. After 2 weeks follow-up, the success rate was 93.1% and 6.9% failed. 4. Conclusion: intralesional triamcinolone acetonide injection for chalazion treatment is really effective. Key words: chalazion, intralesional triamcinolone acetonide.

Synthesis of a silymarin-gold nanoparticle conjugate and analysis of its liver-protecting activity

2021 ◽  
Vol 22 ◽  
Author(s):  
Sergey Staroverov ◽  
Sergey Kozlov ◽  
Alexander Fomin ◽  
Konstantib Gabalov ◽  
Alexey Volkov ◽  
...  
Keyword(s):  
Gold Nanoparticles ◽  
Liver Disease ◽  
Carbon Tetrachloride ◽  
Glutathione Depletion ◽  
Laboratory Animals ◽  
Experimental Hepatitis ◽  
Acute Liver Disease ◽  
The Mean ◽  
Extent Of Damage ◽  
First Time

Background: The liver disease problem prompts investigators to search for new methods of liver treatment. Introduction: Silymarin (Sil) protects the liver by reducing the concentration of free radicals and the extent of damage to the cell membranes. A particularly interesting method to increase the bioavailability of Sil is to use synthesized gold nanoparticles (AuNPs) as reagents. The study considered whether it was possible to use the silymarin-AuNP conjugate as a potential liver-protecting drug. Method: AuNPs were conjugated to Sil and examine the liver-protecting activity of the conjugate. Experimental hepatitis and hepatocyte cytolysis after carbon tetrachloride actionwere used as a model system, and the experiments were conducted on laboratory animals. Result: For the first time, silymarin was conjugated to colloidal gold nanoparticles (AuNPs). Electron microscopy showed that the resultant preparations were monodisperse and that the mean conjugate diameter was 18–30 nm ± 0.5 nm (mean diameter of the native nanoparticles, 15 ± 0.5 nm). In experimental hepatitis in mice, conjugate administration interfered with glutathione depletion in hepatocytes in response to carbon tetrachloride was conducive to an increase in energy metabolism, and stimulated the monocyte–macrophage function of the liver. The results were confirmed by the high respiratory activity of the hepatocytes in cell culture. Conclusion: We conclude that the silymarin-AuNP conjugate holds promise as a liver-protecting agent in acute liver disease caused by carbon tetrachloride poisoning.

scholarly journals The Sankara Nethralaya Tamil Nadu Essilor Myopia (STEM) Study—Defining a Threshold for Non-Cycloplegic Myopia Prevalence in Children

2021 ◽  
Vol 10 (6) ◽  
pp. 1215
Author(s):  
Aparna Gopalakrishnan ◽  
Jameel Rizwana Hussaindeen ◽  
Viswanathan Sivaraman ◽  
Meenakshi Swaminathan ◽  
Yee Ling Wong ◽  
...  
Keyword(s):  
Open Field ◽  
Tamil Nadu ◽  
Mean Difference ◽  
School Vision ◽  
Elite School ◽  
Prevalence Estimates ◽  
The Mean ◽  
Clinically Significant ◽  
Set Up ◽  
Definition Of

The aim of this study was to investigate the agreement between cycloplegic and non-cycloplegic autorefraction with an open-field auto refractor in a school vision screening set up, and to define a threshold for myopia that agrees with the standard cycloplegic refraction threshold. The study was conducted as part of the Sankara Nethralaya Tamil Nadu Essilor Myopia (STEM) study, which investigated the prevalence, incidence, and risk factors for myopia among children in South India. Children from two schools aged 5 to 15 years, with no ocular abnormalities and whose parents gave informed consent for cycloplegic refraction were included in the study. All the children underwent visual acuity assessment (Pocket Vision Screener, Elite school of Optometry, India), followed by non-cycloplegic and cycloplegic (1% tropicamide) open-field autorefraction (Grand Seiko, WAM-5500). A total of 387 children were included in the study, of whom 201 were boys. The mean (SD) age of the children was 12.2 (±2.1) years. Overall, the mean difference between cycloplegic and non-cycloplegic spherical equivalent (SE) open-field autorefraction measures was 0.34 D (limits of agreement (LOA), 1.06 D to −0.38 D). For myopes, the mean difference between cycloplegic and non-cycloplegic SE was 0.13 D (LOA, 0.63D to −0.36D). The prevalence of myopia was 12% (95% CI, 8% to 15%) using the threshold of cycloplegic SE ≤ −0.50 D, and was 14% (95% CI, 11% to 17%) with SE ≤ −0.50 D using non-cycloplegic refraction. When myopia was defined as SE of ≤−0.75 D under non-cycloplegic conditions, there was no difference between cycloplegic and non-cycloplegic open-field autorefraction prevalence estimates (12%; 95% CI, 8% to 15%; p = 1.00). Overall, non-cycloplegic refraction underestimates hyperopia and overestimates myopia; but for subjects with myopia, this difference is minimal and not clinically significant. A threshold of SE ≤ −0.75 D agrees well for the estimation of myopia prevalence among children when using non-cycloplegic refraction and is comparable with the standard definition of cycloplegic myopic refraction of SE ≤ −0.50 D.

scholarly journals Neutrosophic ratio-type estimators for estimating the population mean

2021 ◽  
Author(s):  
Zaigham Tahir ◽  
Hina Khan ◽  
Muhammad Aslam ◽  
Javid Shabbir ◽  
Yasar Mahmood ◽  
...  
Keyword(s):  
Minimum Mean Square Error ◽  
Auxiliary Information ◽  
Population Parameter ◽  
Uncertain Information ◽  
Population Mean ◽  
Classical Statistics ◽  
Neutrosophic Statistics ◽  
The Mean ◽  
Type Data ◽  
First Time

AbstractAll researches, under classical statistics, are based on determinate, crisp data to estimate the mean of the population when auxiliary information is available. Such estimates often are biased. The goal is to find the best estimates for the unknown value of the population mean with minimum mean square error (MSE). The neutrosophic statistics, generalization of classical statistics tackles vague, indeterminate, uncertain information. Thus, for the first time under neutrosophic statistics, to overcome the issues of estimation of the population mean of neutrosophic data, we have developed the neutrosophic ratio-type estimators for estimating the mean of the finite population utilizing auxiliary information. The neutrosophic observation is of the form $${Z}_{N}={Z}_{L}+{Z}_{U}{I}_{N}\, {\rm where}\, {I}_{N}\in \left[{I}_{L}, {I}_{U}\right], {Z}_{N}\in [{Z}_{l}, {Z}_{u}]$$ Z N = Z L + Z U I N where I N ∈ I L , I U , Z N ∈ [ Z l , Z u ] . The proposed estimators are very helpful to compute results when dealing with ambiguous, vague, and neutrosophic-type data. The results of these estimators are not single-valued but provide an interval form in which our population parameter may have more chance to lie. It increases the efficiency of the estimators, since we have an estimated interval that contains the unknown value of the population mean provided a minimum MSE. The efficiency of the proposed neutrosophic ratio-type estimators is also discussed using neutrosophic data of temperature and also by using simulation. A comparison is also conducted to illustrate the usefulness of Neutrosophic Ratio-type estimators over the classical estimators.

scholarly journals P1398 Echocardiographic continuous monitoring of exercise stress test using probe fixation device

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
K Wdowiak-Okrojek ◽  
P Wejner-Mik ◽  
Z Bednarkiewicz ◽  
P Lipiec ◽  
J D Kasprzak
Keyword(s):  
Image Quality ◽  
Physical Exercise ◽  
Stress Test ◽  
Exercise Stress Test ◽  
Bicycle Ergometer ◽  
Exercise Stress ◽  
Fixation Device ◽  
The Mean ◽  
First Time

Abstract Background Stress echocardiography (SE) plays an important role among methods of noninvasive diagnosis of ischemic disease. Despite the advantages of physical exercise as the most physiologic stressor, it is difficult (bicycle ergometer) or impossible (treadmill) to obtain and maintain the acoustic window during the exercise. Recently, an innovative probe fixation device was introduced and a research plan was developed to assess the feasibility of external probe fixation during exercise echocardiography on a supine bicycle and upright treadmill exercise for the first time. Methods 37 subjects (36 men, mean age 39 ± 16 years, 21 healthy volunteers, 16 patients with suspected coronary artery disease) were included in this study. This preliminary testing stage included mostly men due to more problematic probe fixation in women. All subjects underwent a submaximal exercise stress test on a treadmill (17/37) or bicycle ergometer (11/37). Both sector and matrix probes were used. We assessed semi-quantitatively the quality of acquired apical views at each stage – the four-point grading system was used (0-no view, 1-suboptimal quality, 2-optimal quality, 3-very good quality), 2-3 sufficient for diagnosis. Results The mean time required for careful positioning of the probe and image optimization was 12 ± 3 min and shortened from 13,7 to 11,1 minutes (mean) in first vs second half of the cohort documenting learning curve. At baseline, 9 patients had at least one apical view of quality precluding reliable analysis. Those patients were excluded from further assessment. During stress, 17 patients maintained the optimal or very good quality of all apical views, whereas in 11 patients the quality significantly decreased during the stress test and required probe repositioning. The mean image quality score at baseline was 2,61 ± 0,48 and 2,25 ± 0,6 after exercise. Expectedly, good image quality was easier to obtain and maintain in the supine position (score 2,74 ± 0,44) points as compared with upright position (score 2,25 ± 0,57). Conclusion This preliminary, unique experience with external probe fixation device indicates that continuous acquisition and monitoring of echocardiographic images is feasible during physical exercise, and for the first time ever - also on the treadmill. This feasibility data stem from almost exclusively male patients and the estimated rate of sufficient image quality throughout the entire test is currently around 60%. We are hoping, that gaining more experience with the product could increase the success rate on exercise tests. Abstract P1398 Figure. Treadmill and ergometer stress test

Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution

2017 ◽  
Vol 27 (12) ◽  
pp. 1106-1114 ◽  
Author(s):  
N.M. Murillo-Melo ◽  
L.C. Márquez-Quiróz ◽  
R. Gómez ◽  
L. Orozco ◽  
E. Mendoza-Caamal ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Mexican Population ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Allelic Distribution ◽  
Ctg Repeat

scholarly journals CTG Repeat Number at the Myotonic Dystrophy Locus in Healthy Kuwaiti Individuals

2004 ◽  
Vol 61 (6) ◽  
pp. 895 ◽  
Author(s):  
Suad Alfadhli ◽  
Alaa E. Elshafey ◽  
Lailá Bastaki ◽  
Sadeqa Al-Awadi
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Number ◽  
Ctg Repeat

THE INFLUENCE OF WEIGHT AND HEIGHT ON WEIGHT CHANGES ASSOCIATED WITH PREGNANCY IN WOMEN

1957 ◽  
Vol 15 (4) ◽  
pp. 423-429 ◽  
Author(s):  
THOMAS McKEOWN ◽  
R. G. RECORD
Keyword(s):  
Weight Change ◽  
Weight Changes ◽  
Body Build ◽  
Weight Increment ◽  
Time Table ◽  
The Mean ◽  
Significant Change ◽  
First Time

SUMMARY Three hundred and eighty-three women whose weights were recorded during and after pregnancy were divided into groups of short (under 64 in.) and tall (64 in. and over) individuals, and further subdivided according to an index of body build (based on the observed regression of antenatal weight on height). Differences between the weight 12 months after delivery and the antenatal weight (adjusted according to the number of days by which it preceded or followed the 124th day of gestation) were examined. The proportion of short women who added weight in this interval was relatively high for those who were thinnest at the antenatal examination, was lowest for those who were moderately thin and thereafter increased with increasing degree of obesity (from about 1 in 3 to 4 in 5); the proportion of tall women who added weight showed no significant change (Fig. 2). This variation in weight change according to height is exhibited by women pregnant for the first time (Table 3). For both short and tall women, the mean weight increment of those who added weight, and the mean weight decrement of those who lost weight, increased with increasing degree of obesity (Fig. 3). When weight change is expressed as a proportion of the antenatal weight these trends disappear (Fig. 4).

Pattern of ziprasidone exposures reported to Texas poison centers, 2001–2005

2008 ◽  
Vol 27 (4) ◽  
pp. 355-361 ◽  
Author(s):  
MB Forrester
Keyword(s):  
Health Care ◽  
Age Distribution ◽  
Care Facility ◽  
Health Care Facility ◽  
Health Care Facilities ◽  
Poison Control ◽  
Clinical Effects ◽  
Poison Control Centers ◽  
Poison Centers ◽  
The Mean

Information on potentially adverse exposures to the atypical antipsychotic drug ziprasidone is limited. This study described the pattern of exposures involving only ziprasidone (isolated exposures) reported to Texas poison control centers during 2001–2005. The mean dose was 666 mg. The patient age distribution was ≤5 years (11%), 6–19 years (30%), and ≥20 years (60%). The exposures were intentional in 53% of the cases. Seventy-five percent of the exposures were managed at health care facilities. The final medical outcome was classified as no effect for 39% of the cases and minor effects for 40% of the cases. Adverse clinical effects were listed for 53% of the patients; the most frequently reported being neurological (42%), cardiovascular (13%), and gastrointestinal (5%). The most frequently listed treatment was decontamination by charcoal (34%) or cathartic (28%). Potentially adverse ziprasidone exposures reported to poison control centers are likely to involve management at a health care facility and involve some sort of adverse clinical effect. With proper treatment, the outcomes of such exposures are generally favorable.

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