scholarly journals A Comprehensive Follow-Up Study Identifying Diagnostic Evidences for Secondary Finding

2020 ◽  
Author(s):  
shu li ◽  
li haoyu ◽  
xiao neng ◽  
lin yixiang ◽  
yu wenxian ◽  
...  
Keyword(s):  
Clinical Evidence ◽  
Secondary Findings ◽  
Follow Up Study ◽  
Whole Exome ◽  
Clinical Presentations ◽  
Follow Up Studies ◽  
Genetics And Genomics ◽  
Secondary Variants ◽  
Secondary Finding

Abstract Background：There was a lacking of clinical diagnostic evidence in follow-up studies for reporting of secondary variants in 59 genes in American College of Medical Genetics and Genomics recommendations for reporting secondary findings and various strategies were applied to interpret the secondary variants. Results: Out of 1330 participants performed whole-exome sequencing, we identified 15 families with convincing clinical evidence. After Sanger validation and a comprehensive clinical follow-up, 10 families with both convincing clinical evidence and convincing genetic evidence of hereditary variants were found. Detailed clinical presentations and related clinical evidence were collected. Conclusions: Our research is a comprehensive follow-up study to identify secondary variants with convincing genetic and clinical evidence and it could help improve the strategy of screening actionable secondary variants and contribute to translation of genetic findings into medical practice.

The Occlusal, Neurological, and Orthopedic Origins and Implications of the Hypersensitive Dentition

2020 ◽  
pp. 699-828
Author(s):  
Nick Yiannios, DDS
Keyword(s):  
Cold Response ◽  
Occlusal Contact ◽  
Adjustment Procedure ◽  
Follow Up Study ◽  
Occlusal Adjustment ◽  
Clinical Presentations ◽  
Anterior Guidance ◽  
Ice Water ◽  
Guidance Development

In the dental literature, the association between the occlusion and hypersensitive teeth is poorly explained. Quantified occlusal contact force and timing parameters have been largely ignored in studies assessing hypersensitive teeth. This chapter introduces a novel occlusal concept, frictional dental hypersensitivity (FDH), after systemically simplifying the existing and often confusing terminology used in the literature to describe the variant clinical presentations of the hypersensitive dentition. Clinical evidence from combining computerized occlusal analysis and electromyography is presented linking opposing posterior tooth friction and muscular hyperactivity to FDH. This chapter will outline how occlusion, many muscular TMD symptoms, and FDH are all interrelated. Both a pilot study and a 100 subject cold ice water swish follow-up study are presented and used a numerical visual analog scale (NS/VAS) to quantify cold response dental hypersensitivity resolution observed in occlusally symptomatic patients that underwent the immediate complete anterior guidance development coronoplasty (ICAGD). This computer-guided occlusal adjustment procedure eliminated pretreatment FDH symptomatology, further supporting that dental hypersensitivity often has an occlusally-based, frictional etiology. Additionally, consideration for the orthopedic influences that may directly affect the occlusion and neurology of the system are outlined, as well as the medical concept of tooth allodynia. Furthermore, trigeminal neurological influences are compared and contrasted to autonomic sympathetic inputs in relation to the influence that they each have upon the hypersensitive dentition. Lastly, the greater auricular diagnostic nerve block is discussed, as is the influence that this nerve may have upon the hypersensitive mandibular posterior dentition.

THU-255-Long term outcomes of alcoholic patients without clinical evidence of liver disease: A 15 years follow-up study

2019 ◽  
Vol 70 (1) ◽  
pp. e274-e275
Author(s):  
sonia bernardo ◽  
Ricardo Crespo ◽  
Helena Cortez-Pinto ◽  
Mariana Machado
Keyword(s):  
Liver Disease ◽  
Clinical Evidence ◽  
Long Term Outcomes ◽  
Follow Up Study

A Five- to Fifteen-Year Follow-up Study of Infantile Psychosis

1969 ◽  
Vol 115 (525) ◽  
pp. 865-882 ◽  
Author(s):  
Linda Lockyer ◽  
Michael Rutter
Keyword(s):  
Young Child ◽  
Intellectual Development ◽  
Intelligence Test ◽  
Follow Up Study ◽  
Follow Up Studies ◽  
Test Result

Surprisingly little is known about the course of intellectual development in children with infantile psychosis. Kanner (1943; Kanner and Lesser, 1958) has stated explicitly in several papers that “even though most of these children are initially considered feeble-minded, they are all unquestionably endowed with good cognitive potentialities, which are masked by the basic disorder” (original italics—Kanner and Lesser, 1958). The expectation would seem to be that the child's IQ, should fluctuate with the course of the psychosis, particularly the autistic aspects, but this has not been tested. It has been suggested (Anthony, 1958) that an intelligence test result in a young child with infantile psychosis is most unreliable and virtually meaningless if the child is without speech. Perhaps because most investigators have shared this view, neither of the two major follow-up studies of children with infantile psychosis, that of Kanner's cases (Eisenberg, 1956; Eisenberg and Kanner, 1956; Kanner, 1943 and 1949; Kanner and Eisenberg, 1955; Kanner and Lesser, 1958) and that of psychotic children seen by Creak (1962, 1963a and b) has included information on IQ changes.

SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides–Baraitser's Syndrome: Follow-up Study

2022 ◽  
Author(s):  
Radharamadevi Akella
Keyword(s):  
De Novo ◽  
Missense Variant ◽  
Family Counseling ◽  
Chromosome 9 ◽  
Follow Up Study ◽  
Whole Exome ◽  
Overall Performance ◽  
Term Management

AbstractNicolaides–Baraitser's syndrome is a rare, dominantly inherited well-delineated syndrome caused by mutations in the SMARCA2 gene which is located on the small arm of chromosome 9. In this study, a de novo missense variant, which was identified in a 3-year-old boy by whole exome sequencing is reported. The de novo heterozygous V1198M missense variant in SMARCA2 gene in exon 25 is novel. Identifying the condition is crucial for the long-term management and family counseling. Follow-up over 4 years revealed improvements in overall performance.

What Happens after Special Education: A Statewide Follow-up Study of Secondary Students who have Behavioral Disorders

1988 ◽  
Vol 13 (3) ◽  
pp. 209-216 ◽  
Author(s):  
Richard S. Neel ◽  
Nancy Meadows ◽  
Phyllis Levine ◽  
Eugene B. Edgar
Keyword(s):  
Special Education ◽  
Public School ◽  
Secondary Students ◽  
The State ◽  
Education Programs ◽  
Behaviorally Disordered ◽  
Follow Up Study ◽  
Follow Up Studies ◽  
Special Education Programs

Recently there have been several follow-up studies of students who have exited special education programs (Hasazi, Gordon, & Roe, 1985; Mithaug, Horiuchi, & Fanning, 1985). These studies raise an interesting question: How well have special education programs prepared the youth they were designed to serve? This study reviews findings concerning the postschool adjustment of 160 students who were labeled behaviorally disordered at graduation from public school in the state of Washington between 1978 and 1986.

scholarly journals Outbreak of human toxoplasmosis in a rural area. A three year serologic follow-up study

1982 ◽  
Vol 77 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Sergio Gomes Coutinho ◽  
Anastácio Morgado ◽  
Marina Wagner ◽  
Renato Lobo ◽  
Frits Sutmoller
Keyword(s):  
Clinical Picture ◽  
Clinical Evidence ◽  
Toxoplasma Infection ◽  
Igg Antibody ◽  
Modes Of Transmission ◽  
Follow Up Study ◽  
Farm Population ◽  
Antibody Titres ◽  
Serologic Evidence

Thirty-six persons living on a farm located in the state of Minas Gerais (Brazil) were studied. Nine of them had the glandular form of toxoplasmosis, between May and August, 1976. These nine cases of toxoplasmosis were confirmed serologically by immunefluorescence-IF-, presenting IgG antibody titres between 1:4096 and 1:32000 and IgM antibody titres between 1:16 and 1:8000. Twelve out of thirty-six persons studied were considered to be "dubious cases". They were defined either by presenting a clinical picture compatible with acquired toxoplasmosis, yet having low serologic titres, or inversely they did not have a clear clinical picture but had serologic evidence of recent Toxoplasma infection. Fifteen out of thirty-six persons studied showed neither serologic nor clinical evidence of recent Toxoplasma infection. The epidemiologic information suggests two possible modes of transmission: a) poorly cooked pork at a barbecue party; b) farm vegetables and soil contaminated with Toxoplasma gondii oocysts (rat-cat cycle). Serologic follow-up nine months later in the human farm population demonstrated still high IgG titres, yet they tended to decline and IgM titres became negative. Three years later most of the IgG titres continued to decline and were almost compatible with the titres obtained in Brazilian population surveys.

Psychological Follow-up Study of Twins from Birth to Five Years

1976 ◽  
Vol 25 (1) ◽  
pp. 198-212
Author(s):  
W. De Coster ◽  
J. Lerou ◽  
C. Dutoit ◽  
M. De Zutter ◽  
R. Derom ◽  
...  
Keyword(s):  
Matched Control ◽  
Twin Studies ◽  
Psychological Tests ◽  
Follow Up Study ◽  
Follow Up Studies ◽  
Set Up ◽  
Mz Twins

Classical psychological twin studies have yielded in part equivocal and sometimes contradictory results. Besides the complexity of the problem, the delicate character of the diagnosis, and the rudimentary tools which were used, several other factors are underlying this situation: (1) insufficient systematization of the set-up and the careless design of the investigations; (2) lack of follow-up studies; (3) uncertain diagnosis of zygosity; in MZ twins no attention to the age of the ovum at the time of cleavage; (4) lack of consideration for antenatal and perinatal influences; (5) no attention to the typical circumstances linked to the twin situation. All this makes it difficult to balance nature against nurture on the basis of comparison between MZ twins, DZ twins, and singletons. Interactions may also appear between the effect of twinning and other factors such as the socioeconomic circumstances. A new investigation was therefore started where, besides the twins, a group of matched control singletons was constituted. The follow-up study is now completed up to the age of 5 years in 13 MZ and 20 DZ twin pairs (+ controls, that is to say, 99 children).The children were observed and subjected to psychological tests at the age of 6 months and of 1, 2, 3, 4, and 5 years.

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study

2015 ◽  
Vol 229 (1-2) ◽  
pp. 599-601 ◽  
Author(s):  
Jun Egawa ◽  
Yuichiro Watanabe ◽  
Atsunori Sugimoto ◽  
Ayako Nunokawa ◽  
Masako Shibuya ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Twin Pair ◽  
Monozygotic Twin ◽  
Autism Spectrum ◽  
Follow Up Study ◽  
Whole Exome ◽  
Monozygotic Twin Pair

scholarly journals The transitioning from trials to extended follow-up studies

2014 ◽  
Vol 11 (6) ◽  
pp. 635-647 ◽  
Author(s):  
Lea T Drye ◽  
Anne S Casper ◽  
Alice L Sternberg ◽  
Janet T Holbrook ◽  
Gabrielle Jenkins ◽  
...  
Keyword(s):  
Treatment Effects ◽  
Asthma Management ◽  
Term Treatment ◽  
Management Program ◽  
Follow Up Study ◽  
Institutional Review ◽  
Combining Data ◽  
Follow Up Studies ◽  
Multicenter Clinical Trials

Background: Investigators may elect to extend follow-up of participants enrolled in a randomized clinical trial after the trial comes to its planned end. The additional follow-up may be initiated to learn about longer term effects of treatments, including adverse events, costs related to treatment, or for reasons unrelated to treatment such as to observe the natural course of the disease using the established cohort from the trial. Purpose: We examine transitioning from trials to extended follow-up studies when the goal of additional follow-up is to observe longer term treatment effects. Methods: We conducted a literature search in selected journals from 2000 to 2012 to identify trials that extended follow-up for the purpose of studying longer term treatment effects and extracted information on the operational and logistical issues in the transition. We also draw experience from three trials coordinated by the Johns Hopkins Coordinating Centers that made transitions to extended follow-up: the Alzheimer’s Disease Anti-inflammatory Prevention Trial, Multicenter Uveitis Steroid Treatment trial, and Childhood Asthma Management Program. Results: Transitions are not uncommon in multicenter clinical trials, even in trials that continued to the planned end of the trial. Transitioning usually necessitates new participant consents. If study infrastructure is not maintained during the transition, participants will be lost and re-establishing the staff and facilities will be costly. Merging data from the trial and follow-up study can be complicated by changes in data collection measures and schedules. Limitations: Our discussion and recommendations are limited to issues that we have experienced in transitions from trials to follow-up studies. Discussion: We discuss issues such as maintaining funding, institutional review board and consent requirements, contacting participants, and combining data from the trial and follow-up phases. We conclude with a list of recommendations to facilitate transitions from a trial to an extended follow-up study.

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