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1.
Chemosphere ; 351: 141124, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38211796

ABSTRACT

Steroid hormones (SHs) are among the important classes of Contaminants of Emerging Concern (CECs) whose detection in aquatic environments is vital due to their potential adverse health impacts. Their detection is challenging because of their lower stability in natural conditions and low concentrations. This study reports the presence of steroid hormones in a major river system, the Periyar River, in Kerala (India). Water samples were collected from thirty different river locations in the case of SHs and five locations within these in the case of other CECs. These were subjected to LC-MS/MS and LC-Q-ToF/MS analyses. Five SHs, estriol, estrone, 17 ß estradiol, progesterone, and hydroxy progesterone, were separated and targeted using MS techniques. The studies of the water samples confirmed the presence of the first three estrogens in different sampling sites, with estrone present in all the sampling sites. The concentration of estrone was detected in the range from 2 to 15 ng/L. Estriol and estradiol concentrations ranged from 1.0 to 5 ng/L and 1-6 ng/L, respectively. The hormones at some selected sites were continuously monitored for seven months. The chosen areas include the feed water sites for the drinking water treatment plants across the river. The monthly data revealed that estrone is the only SHs detected in all the samples in the selected months. The highest concentration of SH was found in August. Twelve CECs belonging to pharmaceuticals and personal care products were identified and quantified. In addition, 31 other CECs were also identified using non-target analysis. A detailed study of the hormone mapping reported here is the first from any South Indian River.


Subject(s)
Estrone , Water Pollutants, Chemical , Estrone/analysis , Chromatography, Liquid/methods , Progesterone , Tandem Mass Spectrometry/methods , Water Pollutants, Chemical/analysis , Environmental Monitoring/methods , Estrogens/analysis , Estradiol/analysis , Estriol/analysis , Rivers
2.
Curr Top Med Chem ; 24(9): 810-829, 2024.
Article in English | MEDLINE | ID: mdl-38288805

ABSTRACT

BACKGROUND: The genus Costus is the largest genus in the family Costaceae and encompasses about 150 known species. Among these, Costus pictus D. Don (Synonym: Costus mexicanus) is a traditional medicinal herb used to treat diabetes and other ailments. Currently, available treatment options in modern medicine have several adverse effects. Herbal medicines are gaining importance as they are cost-effective and display improved therapeutic effects with fewer side effects. Scientists have been seeking therapeutic compounds in plants, and various in vitro and in vivo studies report Costus pictus D. Don as a potential source in treating various diseases. Phytochemicals with various pharmacological properties of Costus pictus D. Don, viz. anti-cancer, anti-oxidant, diuretic, analgesic, and anti-microbial have been worked out and reported in the literature. OBJECTIVE: The aim of the review is to categorize and summarize the available information on phytochemicals and pharmacological properties of Costus pictus D. Don and suggest outlooks for future research. METHODS: This review combined scientific data regarding the use of Costus pictus D. Don plant for the management of diabetes and other ailments. A systematic search was performed on Costus pictus plant with anti-diabetic, anti-cancer, anti-microbial, anti-oxidant, and other pharmacological properties using several search engines such as Google Scholar, PubMed, Science Direct, Sci-Finder, other online journals and books for detailed analysis. RESULTS: Research data compilation and critical review of the information would be beneficial for further exploration of its pharmacological and phytochemical aspects and, consequently, new drug development. Bioactivity-guided fractionation, isolation, and purification of new chemical entities from the plant as well as pharmacological evaluation of the same will lead to the search for safe and effective novel drugs for better healthcare. CONCLUSION: This review critically summarizes the reports on natural compounds, and different extract of Costus pictus D. Don with their potent anti-diabetic activity along with other pharmacological activity. Since this review has been presented in a very interactive manner showing the geographical region of availability, parts of plant used, mechanism of action and phytoconstituents in different extracts of Costus pictus responsible for particular action, it will be of great importance to the interested readers to focus on the development of the new drug leads for the treatment of diseases.


Subject(s)
Costus , Hypoglycemic Agents , Phytochemicals , Phytochemicals/pharmacology , Phytochemicals/chemistry , Hypoglycemic Agents/pharmacology , Hypoglycemic Agents/chemistry , Humans , Costus/chemistry , Plant Extracts/pharmacology , Plant Extracts/chemistry , Animals , Diabetes Mellitus/drug therapy , Antioxidants/pharmacology , Antioxidants/chemistry , Plants, Medicinal/chemistry
3.
Birth Defects Res ; 116(1): e2260, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37850663

ABSTRACT

BACKGROUND: Epidemiological support for prophylactic treatment of left ventricular dysfunction (LVD) in Duchenne muscular dystrophy is limited. We used retrospective, population-based surveillance data from the Muscular Dystrophy Surveillance, Tracking and Research Network to evaluate whether prophylaxis delays LVD onset. METHODS: We analyzed 455 males born during 1982-2009. Age at first abnormal echocardiogram (ejection fraction <55% or shortening fraction <28%) determined LVD onset. Prophylaxis was defined as cardiac medication use at least 1 year prior to LVD. Corticosteroid use was also coded. Kaplan-Meier curve estimation and Cox Proportional Hazard modeling with time-varying covariates describe associations. RESULTS: LVD was identified among 40.7%; average onset age was 14.2 years. Prophylaxis was identified for 20.2% and corticosteroids for 57.4%. Prophylaxis showed delayed LVD onset (p < .001) and lower hazard of dysfunction (adjusted hazard ratio [aHR] = 0.39, 95%CL = 0.22, 0.65) compared to untreated. Compared to no treatment, continuous corticosteroids only (aHR = 1.01, 95%CL = 0.66, 1.53) and prophylaxis only (aHR = 0.67, 95%CL = 0.25, 1.50) were not cardioprotective, but prophylaxis plus continuous corticosteroids were associated with lower hazard of dysfunction (aHR = 0.37, 95%CL = 0.15, 0.80). CONCLUSIONS: Proactive cardiac treatment and monitoring are critical aspects of managing Duchenne muscular dystrophy. Consistent with clinical care guidelines, this study supports clinical benefit from cardiac medications initiated prior to documented LVD and suggests further benefit when combined with corticosteroids.


Subject(s)
Muscular Dystrophy, Duchenne , Ventricular Dysfunction, Left , Male , Humans , Adolescent , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/drug therapy , Retrospective Studies , Heart , Ventricular Dysfunction, Left/drug therapy , Ventricular Dysfunction, Left/complications , Adrenal Cortex Hormones/therapeutic use
4.
Neurol Genet ; 9(6): e200113, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38045992

ABSTRACT

Background and Objectives: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States. Methods: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Variants of unknown significance (VUSs) from the original genetic test reports were reanalyzed for changes in interpretation. Results: Among 243 individuals with definite or probable muscular dystrophy, LGMD was the most common diagnosis (138 cases), followed by CMD (62 cases), DD (22 cases), and EDMD (21 cases). There was a higher proportion of male individuals compared with female individuals, which persisted after excluding X-linked genes (EMD) and autosomal genes reported to have skewed gender ratios (ANO5, CAV3, and LMNA). The most common associated genes were FKRP, CAPN3, ANO5, and DYSF. Reanalysis yielded more definitive variant interpretations for 60 of 144 VUSs, with a mean interval between the original clinical genetic test of 8.11 years for all 144 VUSs and 8.62 years for the 60 reclassified variants. Ten individuals were found to have monoallelic pathogenic variants in genes known to be primarily recessive. Discussion: This study is distinct for being an examination of 4 types of muscular dystrophies in selected geographic areas of the United States. The striking proportion of resolved VUSs demonstrates the value of periodic re-examinations of these variants. Such re-examinations will resolve some genetic diagnostic ambiguities before initiating repeat testing or more invasive diagnostic procedures such as muscle biopsy. The presence of monoallelic pathogenic variants in recessive genes in our cohort indicates that some individuals with muscular dystrophy continue to face incomplete genetic diagnoses; further refinements in genetic knowledge and diagnostic approaches will optimize diagnostic information for these individuals.

5.
J Clin Neuromuscul Dis ; 24(4): 171-187, 2023 Jun 01.
Article in English | MEDLINE | ID: mdl-37219861

ABSTRACT

ABSTRACT: The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.


Subject(s)
Genetic Testing , Muscular Dystrophy, Duchenne , Humans , Mutation , Phenotype , Muscle, Skeletal
6.
Muscle Nerve ; 66(2): 193-197, 2022 08.
Article in English | MEDLINE | ID: mdl-35312090

ABSTRACT

INTRODUCTION/AIMS: With current and anticipated disease-modifying treatments, including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009, a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) showed an average diagnosis age of 5 years among males with DMD born from January 1, 1982 to December 31, 2000. Initiatives were implemented by the US Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow-up study in a surveillance cohort born after January 1, 2000 to determine whether there has been an improvement in time to diagnosis. METHODS: We assessed the age of diagnosis among males with DMD born from January 1, 2000 to December 31, 2015 using data collected by six US MD STARnet surveillance sites (Colorado, Iowa, western New York State, the Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency count and percentage for categorical variables, and mean, median, and standard deviation (SD) for continuous variables. RESULTS: The mean [median] ages in years of diagnostic milestones were: first signs, 2.7 [2.0]; first creatine kinase (CK), 4.6 [4.6]; DNA/muscle biopsy testing, 4.9 [4.8]; and time from first signs to diagnostic confirmation, 2.2 [1.4]. DISCUSSION: The time interval between first signs of DMD and diagnosis remains unchanged at 2.2 years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids, and participation in clinical trials.


Subject(s)
Muscular Dystrophy, Duchenne , Child, Preschool , Cohort Studies , Follow-Up Studies , Humans , Male , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/epidemiology , Muscular Dystrophy, Duchenne/genetics , Population Surveillance/methods , Retrospective Studies
7.
Muscle Nerve ; 66(1): 15-23, 2022 07.
Article in English | MEDLINE | ID: mdl-34994466

ABSTRACT

INTRODUCTION/AIMS: Corticosteroids have been shown to improve muscle strength and delay loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD) and are considered standard of care despite significant side-effects. The objective of this study is to evaluate whether corticosteroid treatment after LOA is beneficial for cardiac or pulmonary functions among boys with DMD. METHODS: We used the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to characterize associations between corticosteroid use and onset of abnormal left ventricular (LV) function or abnormal percent predicted forced vital capacity (ppFVC) among 398 non-ambulatory boys with DMD. Kaplan-Meier curve estimation was used to compare time to onset by corticosteroid use groups; Cox proportional hazards modeling was used to estimate hazard ratios (HRs) and corresponding 95% confidence intervals. RESULTS: We found no differences in time to onset of abnormal LV function by corticosteroid use groups. We observed a longer time from LOA to first abnormal ppFVC in boys that were treated with corticosteroid ≥1 y beyond LOA compared with those with no corticosteroid use or those who stopped corticosteroid use within 1 y of LOA. DISCUSSION: Our findings show no association of corticosteroid use beyond LOA with the onset of abnormal LV function, but a significant association with a delay in onset of abnormal ppFVC. Prospective studies of corticosteroid use in boys with DMD who have lost ambulation may identify benefits and can better elucidate risks, allowing for more effective counseling of patients on continuing treatment after LOA.


Subject(s)
Muscular Dystrophy, Duchenne , Adrenal Cortex Hormones/therapeutic use , Humans , Male , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/drug therapy , Proportional Hazards Models , Prospective Studies , Walking
8.
J Child Neurol ; 36(12): 1095-1102, 2021 10.
Article in English | MEDLINE | ID: mdl-34677095

ABSTRACT

In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and corticosteroids use in males with Duchenne muscular dystrophy identified through a population-based surveillance system were analyzed using Kaplan-Meier survival curves and Cox proportional hazards modeling. The adjusted risk of receiving any respiratory intervention among preterm males with Duchenne muscular dystrophy was 87% higher than among the corresponding full-term males with Duchenne muscular dystrophy. The adjusted risks for ambulation cessation and left ventricular dysfunction were modestly elevated among preterm compared to full-term males, but the 95% confidence intervals contained the null. No difference in the start of corticosteroid use between preterm and full-term Duchenne muscular dystrophy males was observed. Overall, the disease course seems to be similar between preterm and full-term males with Duchenne muscular dystrophy; however, pulmonary function seems to be affected earlier among preterm males with Duchenne muscular dystrophy.


Subject(s)
Gait Disorders, Neurologic/epidemiology , Health Status , Muscular Dystrophy, Duchenne/epidemiology , Muscular Dystrophy, Duchenne/physiopathology , Respiration, Artificial/statistics & numerical data , Ventricular Dysfunction, Left/epidemiology , Adolescent , Causality , Child , Child, Preschool , Cohort Studies , Comorbidity , Disease Progression , Gait Disorders, Neurologic/physiopathology , Humans , Infant, Newborn , Infant, Premature , Kaplan-Meier Estimate , Male , Population Surveillance , Retrospective Studies , United States/epidemiology , Ventricular Dysfunction, Left/physiopathology
9.
Birth Defects Res ; 113(7): 560-569, 2021 04 15.
Article in English | MEDLINE | ID: mdl-32710484

ABSTRACT

INTRODUCTION: Data on muscular dystrophies (MDs), a heterogeneous group of heritable diseases hallmarked by progressive muscle deterioration, are scarce. OBJECTIVE: We describe cross-sectional sociodemographic and clinical characteristics of individuals with congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, or oculopharyngeal MD. METHODS: The study was conducted in four sites (Arizona, Colorado, Iowa, and 12 western New York counties) as a pilot expansion of the Muscular Dystrophy Surveillance, Tracking and Research Network, funded by the Centers for Disease Control and Prevention. MDs were detected in healthcare facilities and administrative data sources using International Classification of Disease codes. Our sample contains 1,723 individuals with a MD diagnosis and a healthcare encounter between January 1, 2007 and December 31, 2011. RESULTS AND CONCLUSIONS: Individuals were mostly non-Hispanic and white. Median ages ranged from 9.2 to 66.0 years. Most (98%) had health insurance. The proportion of individuals who were disabled or unable to work increased with age (range: 8.6-46.4%). People with limb-girdle MD aged ≥18 years were more likely to be nonambulatory (range: 24.5-44.7%). The percentages of individuals with documented clinical interventions during the surveillance period were low. The most common cause of death was respiratory causes (46.3-57.1%); an ICD-10 code for MD (G71.1 or G71.0) was reported for nearly one-half. Our findings show wide variability in sociodemographic and clinical characteristics across MDs.


Subject(s)
Muscular Dystrophy, Duchenne , Adolescent , Adult , Aged , Arizona , Child , Colorado/epidemiology , Cross-Sectional Studies , Humans , Middle Aged , Population Surveillance , United States/epidemiology , Young Adult
10.
Mol Cell Probes ; 50: 101510, 2020 04.
Article in English | MEDLINE | ID: mdl-31953220

ABSTRACT

The polymerase spiral reaction (PSR), a novel isothermal method for targeted DNA amplification, was effectively applied to detect Salmonella in artificially spiked pork. The specificity of the developed PSR was tested using 16 Salmonella and 15 non-Salmonella strains. The PSR assay was 10-fold more sensitive than conventional end-point PCR, having a sensitivity comparable to real-time PCR. The limit of detection of the developed assay was 4 × 103 per gram of pork without enrichment and 4 CFU per gram after a 6 h enrichment. The detection of 4 CFU per gram of pork was achieved within 8 h. The PSR assay was successful, and accurate in comparison to microbiological methods, in detecting Salmonella in 11 of 76 commercial pork samples. Therefore the positive predictive value, negative predictive value and accuracy rate of the developed assay were 100%. Considering its rapidity, user-friendliness, simplicity, cost-effectiveness and equipment-free nature, this PSR assay is a promising tool for the food industry for the detection of Salmonella and prevention of Salmonella outbreaks and recalls.


Subject(s)
Meat Products/microbiology , Pork Meat/microbiology , Real-Time Polymerase Chain Reaction/methods , Salmonella/isolation & purification , Biological Assay , Food Contamination/analysis , Limit of Detection
11.
Autism Res ; 12(5): 802-805, 2019 05.
Article in English | MEDLINE | ID: mdl-30964233

ABSTRACT

Food allergies are frequently reported to co-occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of US children ages 2-17 in the National Health Interview Survey, study years 2011-2015. All analyses used survey weights to account for the complex sampling design. In the analytic sample of 53,365 children ages 2-17, there were 905 children with parent-reported ASD (prevalence of 1.7%) and 2,977 children with parent-reported food allergy (prevalence of 5.6%). Parent-reported food allergies were nearly 2.5 times more common in children with ASD (prevalence of 13.1%) than in children without ASD (5.4%). These results indicate that food allergies commonly co-occur with ASD, which may have etiological implications. Autism Research 2019, 12: 802-805. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Food allergies are frequently reported to occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of United States children. In the sample of 53,365 children ages 2-17, 1.7% of children were reported to have ASD, and 5.6% were reported to have food allergies. Parent-reported food allergies were nearly 2.5 times more common in children with ASD (13.1%) than in children without ASD (5.4%).


Subject(s)
Autism Spectrum Disorder/epidemiology , Food Hypersensitivity/epidemiology , Health Surveys/methods , Interviews as Topic/statistics & numerical data , Parents , Adolescent , Child , Child, Preschool , Comorbidity , Female , Health Surveys/statistics & numerical data , Humans , Male , Prevalence , United States/epidemiology
12.
J Neuromuscul Dis ; 5(4): 497-507, 2018.
Article in English | MEDLINE | ID: mdl-30149461

ABSTRACT

BACKGROUND: Patients with Duchenne muscular dystrophy (DMD) are at high risk of endocrine and bone health complications resulting from the high glucocorticoid (GC) doses used to treat this condition. There are limited data characterizing the clinical management of these complications. OBJECTIVE: To determine the frequency of bone health screening, endocrinologist evaluation, and use of endocrine and bone health pharmacotherapy in the clinical care of males with DMD. METHODS: A population based cohort study using data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) was conducted. Clinical data was abstracted from the medical records of 683 males with DMD at five surveillance sites across the US. RESULTS: A DXA scan had been documented in 24% of cases; the percentage of cases with DXA varied across surveillance sites from 13% to 43%, p < 0.001. History of fracture and greater disease duration were associated with greater odds of having a DXA. Only 4.7% of cases had documentation of an endocrinologist evaluation. The frequency of documented endocrine and bone health pharmacotherapy use included calcium (42.8%), vitamin D (36.6%), bisphosphonates (13.3%), growth hormone (1.9%), testosterone (1.7%), insulin (1.2%), and metformin (0.3%)Conclusions:A low percentage of DMD males had record of DXA scan, endocrinologist evaluation, or treatment with endocrine or bone health pharmacotherapy. Endocrine and bone health care may represent an unmet need in the DMD population.


Subject(s)
Bone Diseases , Endocrine System Diseases , Glucocorticoids/adverse effects , Muscular Dystrophy, Duchenne/drug therapy , Absorptiometry, Photon , Adolescent , Bone Diseases/diagnosis , Bone Diseases/etiology , Bone Diseases/therapy , Bone and Bones , Child , Cohort Studies , Databases, Factual , Endocrine System Diseases/diagnosis , Endocrine System Diseases/etiology , Endocrine System Diseases/therapy , Humans , Male , Medical Records
13.
J Child Neurol ; 33(8): 537-545, 2018 07.
Article in English | MEDLINE | ID: mdl-29759004

ABSTRACT

The objective of this study was to investigate whether males who were born preterm took longer to receive a Duchenne muscular dystrophy diagnosis than term males. Data for males with Duchenne muscular dystrophy identified through a population-based surveillance system were analyzed using a Kaplan-Meier estimator. The first signs and symptoms were noted at a median age of 2 years in both groups. Median age when first signs and symptoms prompted medical evaluation was 2.59 years among preterm and 4.01 years among term males. Median age at definitive diagnosis was 4.25 years and 4.92 years for preterm and term males, respectively. Neither difference was statistically significant. Preterm males tended to be seen for their initial medical evaluation earlier than term males, though they were not diagnosed significantly earlier. It may take clinicians longer after the initial evaluation of preterm males to arrive at a Duchenne muscular dystrophy diagnosis.


Subject(s)
Infant, Premature , Muscular Dystrophy, Duchenne/diagnosis , Child, Preschool , Delayed Diagnosis , Humans , Kaplan-Meier Estimate , Male , Muscular Dystrophy, Duchenne/epidemiology , Retrospective Studies
14.
Muscle Nerve ; 58(2): 219-223, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29543994

ABSTRACT

INTRODUCTION: As the Duchenne muscular dystrophy (DMD) population ages, it is essential that we understand the late-stage health profile and provide the appropriate care for this emerging population. METHODS: We undertook a descriptive study to document the health profile of a cohort of adults with DMD using data from the Muscular Dystrophy Surveillance Tracking and Research network (MD STARnet). Data included information collected from Arizona, Colorado, Iowa, Georgia, and 12 counties in western New York on individuals born since January 1982 and followed through December 2012. RESULTS: In 208 adults with DMD, the number of individuals (N) and median ages (years) at which certain critical milestones were crossed and interventions initiated were as follows: development of cardiomyopathy, N = 145 (16.7); initiation of non-invasive ventilation, N = 99 (18.0); gastrostomy, N = 47 (19.0); and death, N = 59 (21.8). DISCUSSION: These population-based data provide critical information about late-stage health profiles among adults with DMD for developing appropriate models of care. Muscle Nerve 58: 219-223, 2018.


Subject(s)
Health Status , Muscular Dystrophy, Duchenne/physiopathology , Adult , Age Factors , Cohort Studies , Female , Health Services Needs and Demand , Humans , Male , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/therapy , Population Surveillance , Retrospective Studies , United States , Young Adult
15.
J Autism Dev Disord ; 47(1): 224-229, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27752862

ABSTRACT

Epilepsy is reported to co-occur in individuals with autism spectrum disorder (ASD). Previous studies across the world have found prevalence estimates ranging from 4 to 38 %. We examined parent-reported prevalence of co-occurring epilepsy and ASD in the most recent U.S. National Survey of Children's Health, 2011-2012. All analyses accounted for survey weights to account for the complex sampling design. In the overall analytic sample of 85,248 children ages 2-17, there were 1604 children with ASD (prevalence of 1.8 %) and 1083 children with epilepsy (prevalence of 1.2 %). Epilepsy was reported to co-occur in 8.6 % of ASD cases. In children with ASD, the co-occurrence of epilepsy was associated with increasing child age, female gender, intellectual disability, speech problems and lower socioeconomic status.


Subject(s)
Autism Spectrum Disorder/epidemiology , Epilepsy/epidemiology , Adolescent , Child , Child, Preschool , Comorbidity , Female , Health Surveys , Humans , Male , Prevalence , Social Class , Surveys and Questionnaires , United States/epidemiology
16.
Lasers Med Sci ; 26(3): 299-305, 2011 May.
Article in English | MEDLINE | ID: mdl-20393770

ABSTRACT

The potential of laser-induced fluorescence (LIF) spectroscopy for the characterization of different stages of dental caries using 404-nm diode laser excitation was investigated. In vitro spectra from 16 sound, 10 noncavitated carious and 10 cavitated carious molar teeth were recorded on a miniature fibre-optic spectrometer. The areas under the receiver operating characteristics (ROC-AUC) were calculated and one-way analysis of variance (ANOVA) was performed. The LIF spectra of the carious teeth showed two peaks at 635 and 680 nm in addition to a broad band seen at 500 nm in sound teeth. The fluorescence intensity ratios, F500/F635 and F500/F680, in carious teeth were always lower than those in sound teeth. The ROC-AUC for discriminating between carious and sound teeth was 0.94, and for discriminating between noncavitated and cavitated carious teeth was 0.87. Statistically significant differences (p<0.001) were seen between sound, noncavitated carious and cavitated carious teeth. The results showed that LIF spectroscopy has the potential to be useful for characterizing different stages of caries in a clinical setting.


Subject(s)
Dental Caries/diagnosis , Lasers, Semiconductor , Dental Caries/classification , Humans , Optical Fibers , Spectrometry, Fluorescence/instrumentation
17.
Photodiagnosis Photodyn Ther ; 7(3): 162-75, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20728840

ABSTRACT

BACKGROUND: The focal goal of this study is to identify optimal accumulation periods for ALA-induced PpIX in different healthy anatomical sites of human oral cavity and different types of abnormal mucosa to improve the accuracy of the clinical applications such as photodiagnosis and tissue grading. MATERIALS AND METHODS: Laser-induced fluorescence (LIF) emission spectra, with excitation at 404 nm from a diode laser, were recorded with a miniature fiber-optics spectrometer from 13 anatomical sites of oral mucosa in 15 healthy volunteers and 30 suspicious sites in 15 patients after topical application of 0.4% 5-ALA solution for 15 min. The optimal accumulation time in different anatomical sites of healthy subjects and abnormal tissues were determined by studying the temporal variation in normalized fluorescence intensities (NFI) at 635, 685 and 705 nm. RESULTS AND DISCUSSIONS: In masticatory anatomical locations such as (gingival and hard palate) and in lining mucosa (inner lip, soft palate, floor of mouth, transition to floor of mouth, alveolus and ventral tongue) except vermillion border of lip (VBL) of healthy subjects (designated as group I), it was observed that optimum time for maximum accumulation of PpIX is 90 min. In comparison, for lateral side of tongue (LST) and dorsal side of tongue (DST) tissues (designated as group II), maximum accumulation of PpIX was observed in 150 min of ALA application. For diverse grade lesions of group I mucosa in patients, maximum accumulation of PpIX was observed in 90 min, whereas, in group II mucosa the optimum accumulation time was 150 min as in the case of healthy mucosa. Further, between different grades oral mucosa, maximum variation in NFI take place at these optimal time periods. CONCLUSIONS: The determination of the optimum accumulation time of ALA in oral mucosa based on NFI helps to improve the diagnostic contrast and accuracy of oral cancer diagnosis, and to plan appropriate timing for ensuing PDT.


Subject(s)
Aminolevulinic Acid/pharmacokinetics , Mouth Diseases/diagnosis , Mouth Mucosa/anatomy & histology , Mouth/metabolism , Protoporphyrins/metabolism , Administration, Topical , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/drug therapy , Carcinoma, Squamous Cell/pathology , Diagnosis, Oral , Humans , Mouth Diseases/drug therapy , Mouth Diseases/pathology , Mouth Mucosa/pathology , Mouth Neoplasms/diagnosis , Mouth Neoplasms/drug therapy , Mouth Neoplasms/pathology , Photochemotherapy , Spectrometry, Fluorescence , Time Factors
18.
J Biomed Opt ; 15(2): 027001, 2010.
Article in English | MEDLINE | ID: mdl-20459276

ABSTRACT

We present the clinical applicability of fluorescence ratio reference standard (FRRS) to discriminate different stages of dental caries. Toward this, laser-induced autofluorescence emission spectra are recorded in vivo in the 400- to 800-nm spectral range on a miniature fiber optic spectrometer from 65 patients, with a 404-nm diode laser as the excitation source. Autofluorescence spectra of sound teeth consist of a broad emission at 500 nm that is typical of natural enamel, whereas in caries teeth additional peaks are seen at 635 and 680 nm due to emission from porphyrin compounds in oral bacteria. Scatter plots are developed to differentiate sound teeth from enamel caries, sound teeth from dentinal caries, and enamel caries from dentinal caries using the mean fluorescence intensity (FI) and ratios F500F635 and F500F680 measured from 25 sites of sound teeth and 65 sites of carious teeth. The sensitivity and specificity of both the FI and FRRS are determined. It is observed that a diagnostic algorithm based on FRRS scatter plots is able to discriminate enamel caries from sound teeth, dentinal caries from sound teeth, and enamel from dentinal caries with overall sensitivities of 85, 100, and 88% and specificities of 90, 100, and 77%, respectively.


Subject(s)
Clinical Trials as Topic , Dental Caries/diagnosis , Lasers , Spectrometry, Fluorescence/standards , Adult , Female , Humans , India , Male , Middle Aged , Reference Values , Reproducibility of Results , Sensitivity and Specificity
19.
Head Neck ; 32(6): 763-79, 2010 Jun.
Article in English | MEDLINE | ID: mdl-19827122

ABSTRACT

BACKGROUND: Laser-induced autofluorescence (LIAF) and diffuse reflectance (DR) were collectively used in this clinical study to improve early oral cancer diagnosis and tissue grading. METHODS: LIAF and DR emission from oral mucosa were recorded on a fiber-optic spectrometer by illumination with a 404-nm diode laser and tungsten halogen lamp in 36 healthy volunteers and 40 lesions of 20 patients. RESULTS: Absorption dips in LIAF spectra at 545 and 575 nm resulting from changes in oxygenated hemoglobin were corrected using DR spectra of the same site. These corrected spectra were curve-fitted using Gaussian spectral functions to determine constituent emission peaks and their relative contribution. The Gaussian peak intensity and area ratios F500/F635 and F500/F685 were found to be useful indicators of tissue transformation. The diagnostic capability of various ratios in differentiating healthy, hyperplastic, dysplastic, and squamous cell carcinomas (SCCs) were examined using discrimination scatterplots. CONCLUSIONS: The LIAF/DR technique, in conjunction with curve-fitting, differentiates different grades of dysplasia and SCC in this clinical trial and proves its potential for early detection of oral cavity cancer and tissue grading.


Subject(s)
Carcinoma, Squamous Cell/pathology , Mouth Mucosa/pathology , Mouth Neoplasms/pathology , Neoplasm Staging/methods , Spectrometry, Fluorescence , Humans , Hyperplasia/pathology , Normal Distribution , Precancerous Conditions/pathology , Sensitivity and Specificity , Spectrum Analysis/methods
20.
J Biomed Opt ; 13(4): 041306, 2008.
Article in English | MEDLINE | ID: mdl-19021314

ABSTRACT

Diffuse reflectance (DR) spectroscopy is a simple, low-cost, and noninvasive modality with potential for distinguishing oral precancer. Recently, in an ex vivo study, the DR spectral ratio (R545/R575) of oxygenated hemoglobin bands at 545 and 575 nm was used for grading malignancy. This work presents the results of clinical trials conducted in 29 patients to detect oral precancer using this ratio. We use site-specific normal spectra from a group of 36 healthy volunteers for comparison with those of patients. Toward this, in vivo DR spectra from 14 anatomical sites of the oral cavity of healthy volunteers are recorded on a miniature fiber optic spectrometer with white light excitation. The R545/R575 ratio is lowest for healthy tissues and appears to increase with the grade of malignancy. As compared to scatter plots that use the mean DR ratio from all anatomical sites, those using site-specific data show improved sensitivity and specificity for early diagnosis and grading of oral cancer. In the case of buccal mucosa, using scatter plots of R545/R575 ratio, we obtain a sensitivity of 100% and specificity of 86% for discriminating precancer (dysplasia) from hyperplasia, and a sensitivity of 97% and specificity of 86% for discriminating hyperplasia from normal.


Subject(s)
Hemoglobins/analysis , Mouth Neoplasms/diagnosis , Mouth Neoplasms/metabolism , Oxygen/analysis , Precancerous Conditions/diagnosis , Precancerous Conditions/metabolism , Spectrum Analysis/methods , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Diagnosis, Computer-Assisted/methods , Female , Humans , Male , Middle Aged , Young Adult
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