Patients trinucleotide repeats. Medical search. Frequent questions

A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. (wikipedia.org)
It appears that expansion of these repeats is more common than reduction. (wikipedia.org)
In addition to occurring during DNA replication, trinucleotide repeat expansion can also occur during DNA repair. (wikipedia.org)
Each of these processes involves a DNA synthesis step in which strand slippage might occur leading to trinucleotide repeat expansion. (wikipedia.org)
Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. (wikipedia.org)
Repeat composition and location are used to determine the mechanism of a given expansion. (wikipedia.org)
Two patients in the chronic neuropathy group had a full repeat expansion or an intermediate expansion (39 or 32 repeats), without limb ataxia. (nih.gov)
Results: We found 242 (11.4%) intermediate expansion carriers in control individuals and 333 (13.8%) in ALS patients. (videolectures.net)
Fragile X syndrome (FXS) is caused by expansion of the CGG trinucleotide repeat in the Fragile X Mental Retardation gene, FMR1 . (ny.gov)
The absence of FMR1 protein causes the characteristics of FXS, but CGG expansion is variable, leading to mosaicism within individuals and the range of characteristics seen in patients. (ny.gov)
Trinucleotide repeat expansion in the FMR1 gene is caused by instability in early development and during germ cell production and is thought to be a result of DNA polymerase slippage during DNA replication. (ny.gov)
This lends support to the "origin switch" model of slippage, in which DNA replication through the repeat region increases the formation of secondary structures - when a DNA strand binds to itself rather than the complimentary strand - thereby causing the DNA polymerase to slip and resulting in expansion of the CGG repeats. (ny.gov)
This is the first study to examine FXS and trinucleotide repeat expansion in human embryonic stem cells. (ny.gov)
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. (bmj.com)
DNA analysis of the FRATAXIN gene in the patient showed that the GAA expansion was present in one allele but not the other, while her mother was negative for the GAA expansion in both alleles. (bmj.com)
DNA analysis showed he was homozygous for the FA repeat expansion. (bmj.com)
The underlying defect is a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9 with 90% of those studied being homozygous for expanded alleles and over half of the remaining patients being compound heterozygotes, carrying one allele with a repeat expansion and the other with a point mutation. (bmj.com)
In 1991, an international team of scientists, led by Dr. Warren, discovered the FMR1 gene and the mechanisms of trinucleotide repeat expansion that caused the fragile X phenotype. (emory.edu)
Expansion of CTG trinucleotide repeats (TNR) in the transcription factor 4 (TCF4) gene is highly associated with Fuchs Endothelial Corneal Dystrophy (FECD). (elsevierpure.com)
Huntington Disease (HD) is a neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the huntingtin gene. (ucf.edu)
The expansion of CAG trinucleotide repeats in genes that encode Ataxins is associated with SPINOCEREBELLAR ATAXIAS (SCA). (bvsalud.org)
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. (nih.gov)
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by the genomic expansion of CTG repeats, in which RNA-binding proteins, such as muscleblind-like protein, are sequestered in the nucleus, and abnormal splicing is observed in various genes. (bvsalud.org)
It is caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4, which is responsible for the expression of the protein huntingtin ( Nance, 2017 ). (frontiersin.org)
2] Healthy individuals may have between 9 and 35 CAG repeats, while patients diagnosed with HD, as well as carriers, have an abnormal expansion accommodating 36 or more CAG repeats. (medscape.com)
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. (utswmed.org)
An expansion of greater than 36 repeats results in HD. (altmetric.com)
Friedreich's ataxia is a rare, genetic, life-shortening, debilitating, and degenerative neuromuscular disorder typically caused by a trinucleotide repeat expansion in the first intron of the frataxin gene, which encodes the mitochondrial protein frataxin. (starkvilledailynews.com)
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (cdc.gov)

However, comparing the HD76 neurons with the previously described low-repeat HD models, we have demonstrated that the severity of calcium signaling alterations does not depend on the length of the polyglutamine tract of the mutant huntingtin. (frontiersin.org)
At the molecular level, HD occurs due to an increase in the number of CAG repeats in the first exon of the gene encoding the huntingtin protein. (frontiersin.org)
Lately, in 1993, gene IT15 (interesting transcript 15), which codes unstable protein huntingtin (htt) comprising variable number of CAG repeats, was identified [ 5 ]. (hindawi.com)
Mutant form of huntingtin (mhtt) comprises up to 40 repeats and individuals with 36-39 CAG repeats are in risk of developing adult (late-onset) form of HD. (hindawi.com)

After identification of a similar pedigree, we set out to investigate the frequency of ATXN1 intermediate expansions in a large international cohort of ALS patients and controls. (videolectures.net)
Due to trinucleotide repeat expansions ranging from approximately 44-1700 "GAA" triplet sequences, affected individuals experience numerous characteristic signs and symptoms of Friedreich Ataxia. (wjgnet.com)
Our findings suggest that the TCF4 CTG repeat expansions in the FECD corneal endothelium are much longer than those found in leukocytes. (elsevierpure.com)
Expansions of repeat DNA tracts cause >70 diseases, and ongoing expansions in brains exacerbate disease. (bvsalud.org)
These findings suggest a functional interplay between the two RPAs where Alt-RPA may antagonistically offset RPA's suppression of disease-associated repeat expansions, which may extend to other DNA processes. (bvsalud.org)
Pathogenic repeat expansions can lead to impaired transcription and reduced frataxin expression, which can result in mitochondrial iron overload and poor cellular iron regulation, increased sensitivity to oxidative stress, and impaired mitochondrial ATP production. (starkvilledailynews.com)

The mHTT concentration in CSF was approximately 3-fold higher in patients with manifest HD than in premanifest mutation carriers. (nih.gov)
Cases include cancer patients, one with a BRCA1 mutation and another with Li-Fraumeni Syndrome. (genome.gov)
The biopsied sural nerves of mutation-positive patients were subjected to light-microscopic and electron-microscopic analyses. (nih.gov)
In the third patient in the cerebellar ataxia group, we identified a novel 21-base duplication mutation near 22 CAG repeats (c.432_452dup). (nih.gov)
Persons who have 36 or more CAG repeats in the HD gene have inherited the disease mutation and eventually develop symptoms if they live to an advanced age. (medscape.com)
A point mutation is currently being sought in the patient. (bmj.com)
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (cdc.gov)

1, 2 In nearly all cases, the molecular basis of this X linked mental impairment is an amplification in excess of 200 copies of an unstable CGG trinucleotide repeat sequence within the 5` untranslated region of the FMR1 gene (FRAXA, MIM 309550) at Xq27.3. (bmj.com)
5 In close distal proximity to the FMR1 gene, a second gene, FMR2 (FRAXE, MIM 309548) involved in mental retardation, has been described with amplification of an unstable GCC trinucleotide repeat sequence as the underlying pathological mechanism. (bmj.com)

The goal is to prepare insurers to understand genetic testing strategies, interpretations, outcomes and patient care, and use that understanding in making sound decisions regarding the healthcare activities of their insured. (genome.gov)
Genetic tests can reduce morbidity/mortality, provide information to manage patient/family members, and assist with reproductive decision-making. (genome.gov)
OBJECTIVE: Cardiac disease accounts for a large burden of premature mortality and morbidity in patients with type 1 myotonic dystrophy (MD). However, little is known about structural cardiac abnormalities particularly in asymptomatic patients with MD. We sought to describe the prevalence and extent of structural cardiac abnormalities in patients with MD and to assess their association with functional, electrical, biochemical and genetic disturbances. (elsevierpure.com)
Genetic testing of patients with MD was performed with quantification of CTG trinucleotide repeat sequences. (elsevierpure.com)
The recommended practices address the total testing process (including the preanalytic,analytic,and postanalytic phases),laboratory responsibilities regarding authorized persons,confidentiality of patient information,personnel competency,considerations before introducing molecular genetic testing or offering new molecular genetic tests,and the quality management system approach to molecular genetic testing. (cdc.gov)
Improvements in the quality and use of genetic laboratory services should improve the quality of health care and health outcomes for patients and families of patients. (cdc.gov)
As the number of molecular genetic tests performed for patient testing has steadily increased, so has the number of laboratories that perform molecular genetic testing for heritable diseases and conditions ( 2,3 ). (cdc.gov)
Clinical and genetic abnormalities in patients with Friedreich's ataxia. (uchicago.edu)
Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)
7 , 8 The aim of this review is to explore the molecular pathology research that has been carried out on CRC from Saudi patients, with a view to understanding the prevalence and clinicopathological correlates of clinically and biologically relevant genetic mutations in Saudi CRC patients. (org.sa)
Genetic risks for colorectal cancer in Saudi patients. (org.sa)
Extensive genetic analysis is performed in search of a diagnosis, but more than half of these patients are today left without one. (lu.se)
Author Manuscript and led to an increased role for clinical genetic testing in patient management. (cdc.gov)

DNA was extracted from the peripheral blood of 436 patients, including 126 patients with chronic neuropathy, 108 with amyotrophic lateral sclerosis, and 202 with cerebellar ataxia. (nih.gov)
The fourth patient, with 41 repeats, had ataxia and spasticity. (nih.gov)
The two patients with cerebellar ataxia also had peripheral neuropathy. (nih.gov)
To assess balance and ability to function in patients with spinocerebellar ataxia. (scielo.br)
A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. (scielo.br)
Patients with spinocerebellar ataxia have important balance impairment and risk of falls that influence the ability to function such as self-care, transfers, and locomotion. (scielo.br)
Patients present with ataxia, dysarthira, loss of discriminatory sensory modalities in the first decade of life. (rahulgladwin.com)
We find the ssDNA-binding complexes canonical replication protein A (RPA1, RPA2, and RPA3) and Alternative-RPA (RPA1, RPA3, and primate-specific RPA4) are upregulated in Huntington disease and spinocerebellar ataxia type 1 (SCA1) patient brains. (bvsalud.org)
Reata Pharmaceuticals, Inc. (Nasdaq: RETA), ("Reata," the "Company," "our," "us," or "we"), a clinical-stage biopharmaceutical company, today announced the completion of the rolling submission of a New Drug Application ("NDA") to the U.S. Food and Drug Administration ("FDA") for omaveloxolone for the treatment of patients with Friedreich's ataxia. (starkvilledailynews.com)
This NDA submission marks an important step toward making a treatment available for patients with Friedreich's ataxia, a serious degenerative neuromuscular disorder with no approved therapies," said Warren Huff, Reata's Chief Executive Officer. (starkvilledailynews.com)
I want to thank all those who made this possible, especially our patients with Friedreich's ataxia, their families, and investigators, as well as our employees, for their tenacity and unwavering belief in the omaveloxolone clinical program. (starkvilledailynews.com)
Patients with Friedreich's ataxia typically experience symptoms in childhood, including progressive loss of coordination, muscle weakness, and fatigue that commonly results in motor incapacitation with patients requiring a wheelchair in their teens or early 20s. (starkvilledailynews.com)
Patients with Friedreich's ataxia may also experience visual impairment, hearing loss, diabetes, and cardiomyopathy. (starkvilledailynews.com)
On average, patients with Friedreich's ataxia die in the mid-thirties. (starkvilledailynews.com)
A small, brief randomized, double-blind pilot study of patients with cerebellar ataxia of different etiologies assessed the responses of 20 patients given riluzole versus 20 patients given a placebo. (medscape.com)

Previous studies have shown that 5% to 15% of patients with ASD have inherited copy number variations (CNVs) or de novo CNVs in some affected genes with synaptic function 10 . (nature.com)
Involvement of other CAG-repeat genes has only been moderately investigated or reported, although an association was found with intermediate length in the ATXN1 in a small Italian cohort after discovery of a pedigree with co-occurrence of ALS and SCA1 disease. (videolectures.net)
La expansión de repeticiones del trinucleótido CAG en los genes que codifican Ataxinas se asocia con las ATAXIAS ESPINOCEREBELOSAS (AEC). (bvsalud.org)

He presents practice guideline-based approaches to selecting tests based on patients' clinical presentations. (genome.gov)
With the very encouraging outcome of this trial, PepGen plans to initiate a Phase 2a multiple ascending dose clinical trial in DMD patients in the first half of 2023. (tipranks.com)
Clinical trials in patients treated with Zolgensma have shown positive outcomes. (wjgnet.com)
Results: We identified four patients with a distinct clinical presentation of muscle weakness in the trunk and proximal limbs. (bvsalud.org)
Discussion: The clinical course of our patients might represent a subtype of AAV that is characterized by muscle weakness of the trunk and proximal extremities and arises from vasculitis within the muscles. (bvsalud.org)
The clinical manifestations of our patients were similar to those of patients with inflammatory myopathy with regard to the distribution of muscle weakness, MRI and needle EMG findings. (bvsalud.org)
In affected patients, neuronal degeneration initiates in the striatum and progresses to the cerebral cortex, following a pattern that correlates to clinical progression of HD. (medscape.com)
Demographic and clinical data of the patients. (1library.co)
Reata is a clinical-stage biopharmaceutical company that develops novel therapeutics for patients with serious or life-threatening diseases by targeting molecular pathways involved in the regulation of cellular metabolism and inflammation. (starkvilledailynews.com)

Dr. Warren used the unusual fragility of the X chromosome in patients with fragile X as a tool to begin the search for the causative gene, a tool that he shared with the other top scientists in the fragile X field. (emory.edu)
Recently, a trinucleotide repeat polymorphism at the rad ( ras associated with diabetes) locus ( RAD1 ) on chromosome 16q was described in association with NIDDM in white Americans. (diabetesjournals.org)
In patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), the imprinted gene abnormality is the 15q11-q13 region of chromosome 15. (wjgnet.com)
This assay measures the number of CGG, tri-nucleotide repeats on the X chromosome using both PCR and Southern Blot analysis. (reprosource.com)
Huntington disease (HD) is associated with an excessive sequence of CAG repeats in the 5' end of HTT (alias IT15- interesting transcript number 15), a 350-kD gene located on the short arm of chromosome 4. (medscape.com)

Normal individuals have CGG repeats ranging from 6 to 54 copies, but FXS patients frequently have over 200 copies, resulting in transcriptional silencing of the gene such that no protein is produced. (ny.gov)
Furthermore, we believe that these results could signal the potential for the accumulation of exon 51 skipped transcript and dystrophin protein in muscle tissue with repeated doses of PGN-EDO51 in people living with DMD. (tipranks.com)
This variant increases the length of a repeated segment of DNA within the gene, which leads to the production of an abnormal PRNP, JPH3, or TBP protein. (medlineplus.gov)
Transport to the nucleus may involve specific protein-to-protein interactions that occur in certain cell types only, possibly explaining the selective neuronal vulnerability present in patients with HD. (medscape.com)
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (cdc.gov)

Patients with expanded CAG repeats can exhibit a neuropathy-dominant phenotype not described previously. (nih.gov)
4 However, the X inactivation pattern can vary between different cell types and during development and thus, usually, causes a milder phenotype in female patients. (bmj.com)

In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. (wikipedia.org)
This stretch is encoded by a trinucleotide CAG repetition in exon 1 of HTT. (altmetric.com)

50 repeat units and cause Fuchs endothelial corneal dystrophy. (nih.gov)
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. (utswmed.org)

Intermediate length of the polyglutamine coding CAG/CAA trinucleotide repeat in the ATXN2 gene was shown to be a risk factor for amyotrophic lateral sclerosis (ALS). (videolectures.net)
Interpretation: Similar to ATXN2, there is an association with an increased length of CAG(/CAT) trinucleotide repeats in ATXN1 and ALS. (videolectures.net)

The most common SCA are characterized by expanded CAG trinucleotide that repeats the encode glutamine amino acid, the so-called polyglutamine diseases. (scielo.br)

Here we have used the induced pluripotent stem cell technology to produce patient-specific terminally differentiated GABA-ergic medium spiny neurons modeling a juvenile form of HD (HD76). (frontiersin.org)

It is a neurodegenerative condition caused by mutated trinucleotide repeats. (rahulgladwin.com)

Onwards from 1995, it was also possible to observe the formation of hairpins in triplet repeats, which consisted of repeating CG pairs and a mismatch. (wikipedia.org)

the detection of various repeats within these diseases demonstrated this relationship. (wikipedia.org)
During the decade after evidence that linked TNR to onset of disease was found, focus was placed on studying repeat length and dynamics on diseases, as well as investigating the mechanism behind parent-child disease inheritance. (wikipedia.org)
Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases. (wikipedia.org)
Trinucleotide repeat diseases. (nih.gov)

Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease. (utswmed.org)

Psychiatric disorders may occur in 35-73% of patients with HD, and behavioral changes may represent the initial manifestation of the disease in one third to one half of the cases. (medscape.com)
However, cognitive and psychiatric symptoms often develop before motor onset and typically have a larger impact on patient quality of life. (ucf.edu)
Currently, treatments to modify these behaviors in premanifest HD patients are not consistently effective and often have side effects, creating a need for research into these psychiatric disturbances. (ucf.edu)
This case study is about a 58 years old female patient with late identification of Huntington's disease after two admissions to psychiatric inpatient units, for the treatment of behavioral disturbances. (altmetric.com)

Detection of TNRs was made difficult by limited technology and methods early on, and years passed before the development of sufficient ways to measure the repeats. (wikipedia.org)
Dr. Flannery also describes single gene sequencing, deletion/duplication testing chromosomal microarray (CMA) testing and detection of trinucleotide repeats. (genome.gov)

Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. (wjgnet.com)

In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. (bvsalud.org)
The number of repeats is inversely correlated with the age of onset of motor symptoms, and disease onset during childhood or adolescence is associated with more than 60 CAG repeats. (altmetric.com)

The sural nerve biopsy findings of the two patients included axonal neuropathy and mixed neuropathy (axonal changes with demyelination). (nih.gov)
In an attempt to replicate this finding, we screened RAD1 and another microsatellite marker at the D16S265 loci, which is located near the rad locus, with a radioactive polymerase chain reaction method in 290 unrelated Finnish NIDDM patients and 270 control subjects and related the findings to measures of insulin sensitivity. (diabetesjournals.org)
These findings illustrate the potential utility of CMR detecting subclinical disease in otherwise asymptomatic patients with MD. (elsevierpure.com)

Somatic mutations in colorectal cancer from Saudi patients. (org.sa)

However, if the loop out structure is formed on the parent strand, a decrease in the number of repeats occurs. (wikipedia.org)
Mania occurs in 2-12% of patients, whereas suicide occurs in nearly 6% of patients. (medscape.com)
Although abnormal splicing occurs in the brains of patients with DM1, its relation to central nervous system symptoms is unknown. (bvsalud.org)

Mutations in the nvasive aspergillosis in immunosuppressed patients is open reading frame of the cyp51A gene can result in struc- difficult to diagnose, is problematic to treat, and results tural alterations to the enzyme, which in turn may inhibit in a high mortality rate ( 1 ). (cdc.gov)
In patients with Ohtahara Syndrome with KCNQ2, SCN2A, or SCN8A mutations, there are several treatment options available. (wjgnet.com)
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2. (cdc.gov)

The verdict is that the data on the molecular alterations in CRC from Saudi patients is at best modest. (org.sa)
Large scale multi-institutional and multiregional translational studies are required to generate molecular data that would inform diagnostic, prognostic, and risk-stratification guidelines for Saudi CRC patients. (org.sa)
Molecular pathology of colorectal cancer syndromes from Saudi patients. (org.sa)

CONCLUSIONS: Patients with MD have a high prevalence of both electrical and structural abnormalities. (elsevierpure.com)

We have demonstrated that mHTT can be quantified in CSF from HD patients using the described SMC mHTT immunoassay. (nih.gov)

In this previous study, 87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. (wjgnet.com)

A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. (medlineplus.gov)
From this analysis, we seek to identify potential therapeutic targets for modulating aggressive behavior in mice, which could lead to the development of therapies that reduce the aggressive behavioral symptoms experienced by HD patients. (ucf.edu)
These patients denied symptoms associated with neuropathy, and had normal serum creatine kinase (CK) levels. (bvsalud.org)
The patients also complained of symptoms affecting other organs, such as the ears and kidneys, which is typical of AAV cases. (bvsalud.org)
Neuropsychiatric symptoms may delay the appropriate diagnosis of HD and have major implications for disease management, prognosis and quality of life for patients and families. (altmetric.com)

One study of 101 relatives of patients with FA failed to detect any neurological abnormalities in the heterozygous state. (bmj.com)
however, the number of CTG repeat sequences did not correlate with either electrical or structural abnormalities. (elsevierpure.com)

The number of trinucleotide repeats appears to predict the progression, severity, and age of onset of Huntington's disease and similar trinucleotide repeat disorders. (wikipedia.org)

Meta-analysis of the frequencies in the 4 different cohorts showed significantly more expanded repeats in ATXN1 in ALS patients compared to controls (p = 0.006, one sided) with an odds ratio of 1.25 (95% CI: 1.05- 1.50). (videolectures.net)
Patients with MD had a significantly lower left ventricular (LV) mass (142±44 vs 172±73 g, p=0.03) and lower right ventricular (RV) ejection fraction (46±9 vs 50±7%, p=0.02) compared with controls, although LV ejection fraction was similar between the groups (58±8 vs 59±6%, p=0.34). (elsevierpure.com)

Additionally, this study showed that, although a statistically significant correlation exists between the number of repeats and the progressive dementia, the relationship is tenuous. (medscape.com)
PCR-fragment repeat size was additionally validated using Sanger sequencing in a subset (N=850) of the data. (videolectures.net)

PATIENT(S): Patients were premenopausal endometriosis cases confirmed by prior laparoscopy. (endometriosi.it)
Matrix metalloproteinase 2 is associated with changes in steroid hormones in the sera and peritoneal fluid of patients with endometriosis. (endometriosi.it)
OBJECTIVE: To determine matrix metalloproteinase 2 (MMP-2) levels in sera and peritoneal fluids of women with or without endometriosis-associated infertility and to determine whether MMP-2 had correlation with 17beta-E(2) and P in the sera and peritoneal fluids of the patients with endometriosis. (endometriosi.it)
PATIENT(S): Forty patients with endometriosis-associated infertility undergoing laparoscopy and 18 women undergoing tubal ligation. (endometriosi.it)
RESULT(S): Compared with the control women, the patients with endometriosis had higher MMP-2 levels in their sera and peritoneal fluids. (endometriosi.it)
The level of MMP-2 in the patients was correlated positively with 17beta-E(2) in serum and peritoneal fluid and negatively with P. CONCLUSION(S): The results demonstrated a correlation between MMP-2 concentrations and steroid hormones in sera and peritoneal fluids of the patients with endometriosis-associated infertility. (endometriosi.it)

[ 5 ] Evidence showed an inverse correlation between the age of onset of cognitive impairment and the number of trinucleotide repeats in the HD gene. (medscape.com)

After the breakthroughs, the four mechanisms for TNRs were determined, and more types of repeats were identified as well. (wikipedia.org)

Pressure pain sensitivity topographical maps reveal bilateral hyperalgesia of the hands in patients with unilateral carpal tunnel syndrome. (1library.co)

Due to limitations in the availability of DNA from diseased corneal endothelium, sizing of CTG repeats in FECD patients has typically been determined using DNA samples isolated from peripheral blood leukocytes. (elsevierpure.com)

The allele frequency distributions of RAD1 and D16S265 did not differ between NIDDM patients and control subjects in the studied population groups. (diabetesjournals.org)

At times, olivopontocerebellar atrophy (OPCA) patients may require enteral feeding to decrease the risk of aspiration. (medscape.com)

because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (wikipedia.org)
SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
The prevalence of apathy (Apathy Scale score 14 points) in patients with Huntington Disease is independently associated with male sex, worse global functioning, and the higher use of neuroleptics and benzodiazepines. (medscape.com)
Using RED, the authors did not detect expanded CAG, CCT, TGG, or CGT repeats that segregate with the disease. (wikigenes.org)
Anti-Adrenal Antibody testing is detected in patients with autoimmune adrenal disease. (reprosource.com)
Ovarian Antibodies may be found in patients with premature ovarian failure, Addison's disease, and polyendocrinopathy syndromes. (reprosource.com)

Methods: This retrospective single-center study included patients with the diagnosis of AAV who had been admitted to the neurology department and had biopsy specimens of muscle and/or nerve tissue. (bvsalud.org)
[ 127 ] Therefore, investigators undertook a trial of 18 patients to study the effect of combined estrogen and buspirone therapy for OPCA. (medscape.com)
A case study using progressively more challenging static and dynamic balance tasks over a 12-week period produced significant improvement in balance in a patient with proven OPCA. (medscape.com)

Muscle biopsy specimens from all four patients revealed vasculitis and inflammation in proximity to the affected vessels, without any discernible characteristics of other myopathies. (bvsalud.org)

Not all patients wish to learn of their risks in the absence of an available treatment, while some individuals may use the information for family planning and other types of planning for the future. (medscape.com)

Anatomy4

Organisms2

Diseases18

Chemicals and Drugs26

Analytical, Diagnostic and Therapeutic Techniques and Equipment10

Psychiatry and Psychology2

Phenomena and Processes42

Information Science3

Health Care2

Expansion29

Huntingtin4

Expansions6

Mutation7

FMR12

Genetic13

Ataxia15

Genes3

Clinical9

Chromosome5

Protein5

Phenotype2

Exon2

Fuchs2

ATXN22

Encode1

Neurons1

Neurodegenerative1

Triplet1

Diseases4

Late-onset1

Psychiatric4

Detection2

Mental Retardation1

Inversely2

Findings3

Somatic1

Occurs3

Mutations3

Molecular3

Conclusions1

MHTT1

Chromosomal1

Symptoms5

Abnormalities2

Huntington's1

Significantly2

Additionally2

Endometriosis6

Cognitive1

Mechanisms1

Syndrome1

Typically1

Allele1

Atrophy1

Disease6

Study3

Characteristics1

Individuals1