scholarly journals Two FMR1 premutation cases without nuclear inclusions

2017 ◽  
Vol 32 (9) ◽  
pp. 1328-1329 ◽  
Author(s):  
Verónica Martínez-Cerdeño ◽  
Mirna Lechpammer ◽  
Paul J Hagerman ◽  
Randi Hagerman
Keyword(s):  
Nuclear Inclusions ◽  
Fmr1 Premutation

Cytoplasmic Invaginations in Trophoblasts and Epithelial Cells of Rat

1971 ◽  
Vol 29 ◽  
pp. 524-525
Author(s):  
Iracema M. Baccarini
Keyword(s):  
Osmium Tetroxide ◽  
Uranyl Acetate ◽  
Nuclear Inclusions ◽  
Mucous Cells ◽  
Electron Microscopic ◽  
Cervical Epithelium ◽  
Intact Membrane ◽  
Microscopic Studies ◽  
Abnormal Cells ◽  
Nuclear Features

Some morphological nuclear features (invaginations) in normal and abnormal cells have been described in several electron microscopic studies. They have been referred to by others as blebs, loops, pockets, sheets, bodies, nuclear inclusions and cytoplasmic invaginations. Identical appearing structures were found in cells of the uterine cervical epithelium, in trophoblasts of blastocysts and in trophoblasts of rat placenta.Methods. Uterine cervix (normal rats), rat placenta (9-10 days gestation) and blastocyst were placed in 3% glutarahdehyde for 3 hours. The tissue was washed in phosphate buffer for 24 hours, postfixed in 1%. buffered osmium tetroxide for 1-2 hours and embedded in epon araldite. Sections were double stained with uranyl acetate and lead citrate and viewed in E. M. Siemens 200.Observations. Nuclear invaginations were found in basal, parabasal and mucous cells of the cervix epithelium, in trophoblasts of blastocyst and in trophoblasts of placenta. An oval, round or elongated invagination contained heterogenously cytoplasm surrounded by a double intact membrane; usually several invaginations were found in the same nucleus.

Postpartum Depression in Women with the FMR1 Premutation

2013 ◽  
Vol 9 (1) ◽  
pp. 72-77
Author(s):  
Roberta W. Obadia ◽  
Ana-Maria Iosif ◽  
Andreea L. Seritan
Keyword(s):  
Postpartum Depression ◽  
Fmr1 Premutation

Men with an FMR1 premutation and their health education needs

2021 ◽  
Author(s):  
Matthew B. Walsh ◽  
Krista Charen ◽  
Lisa Shubeck ◽  
Allyn McConkie‐Rosell ◽  
Nadia Ali ◽  
...  
Keyword(s):  
Health Education ◽  
Fmr1 Premutation ◽  
Education Needs

scholarly journals Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions

2013 ◽  
Vol 58 (8) ◽  
pp. 553-559 ◽  
Author(s):  
Carolyn M Yrigollen ◽  
Guadalupe Mendoza-Morales ◽  
Randi Hagerman ◽  
Flora Tassone
Keyword(s):  
Newborn Screening ◽  
Large Family ◽  
Fmr1 Premutation ◽  
Premutation Allele ◽  
Agg Interruptions

scholarly journals Infant Temperament in the FMR1 Premutation and Fragile X Syndrome

2018 ◽  
Vol 48 (3) ◽  
pp. 412-422
Author(s):  
Bridgette L. Tonnsen ◽  
Anne C. Wheeler ◽  
Lisa R. Hamrick ◽  
Jane E. Roberts
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Infant Temperament ◽  
Fmr1 Premutation

scholarly journals A Unique Visual Attention Profile Associated With the FMR1 Premutation

2021 ◽  
Vol 12 ◽  
Author(s):  
Molly Winston ◽  
Kritika Nayar ◽  
Emily Landau ◽  
Nell Maltman ◽  
John Sideris ◽  
...  
Keyword(s):  
Visual Attention ◽  
Eye Tracking ◽  
Picture Book ◽  
Fragile X ◽  
Autism Spectrum ◽  
Social Stimuli ◽  
Fmr1 Premutation ◽  
Tracking Tasks ◽  
Neurocognitive Profile ◽  
Areas Of Interest

Atypical visual attention patterns have been observed among carriers of the fragile X mental retardation gene (FMR1) premutation (PM), with some similarities to visual attention patterns observed in autism spectrum disorder (ASD) and among clinically unaffected relatives of individuals with ASD. Patterns of visual attention could constitute biomarkers that can help to inform the neurocognitive profile of the PM, and that potentially span diagnostic boundaries. This study examined patterns of eye movement across an array of fixation measurements from three distinct eye-tracking tasks in order to investigate potentially overlapping profiles of visual attention among PM carriers, ASD parents, and parent controls. Logistic regression analyses were conducted to examine whether variables constituting a PM-specific looking profile were able to effectively predict group membership. Participants included 65PM female carriers, 188 ASD parents, and 84 parent controls. Analyses of fixations across the eye-tracking tasks, and their corresponding areas of interest, revealed a distinct visual attention pattern in carriers of the FMR1 PM, characterized by increased fixations on the mouth when viewing faces, more intense focus on bodies in socially complex scenes, and decreased fixations on salient characters and faces while narrating a wordless picture book. This set of variables was able to successfully differentiate individuals with the PM from controls (Sensitivity = 0.76, Specificity = 0.85, Accuracy = 0.77) as well as from ASD parents (Sensitivity = 0.70, Specificity = 0.80, Accuracy = 0.72), but did not show a strong distinction between ASD parents and controls (Accuracy = 0.62), indicating that this set of variables comprises a profile that is unique to PM carriers. Regarding predictive power, fixations toward the mouth when viewing faces was able to differentiate PM carriers from both ASD parents and controls, whereas fixations toward other social stimuli did not differentiate PM carriers from ASD parents, highlighting some overlap in visual attention patterns that could point toward shared neurobiological mechanisms. Results demonstrate a profile of visual attention that appears strongly associated with the FMR1 PM in women, and may constitute a meaningful biomarker.

scholarly journals Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers

2021 ◽  
Vol 12 ◽  
Author(s):  
Darren R. Hocking ◽  
Danuta Z. Loesch ◽  
Paige Stimpson ◽  
Flora Tassone ◽  
Anna Atkinson ◽  
...  
Keyword(s):  
Executive Functioning ◽  
Response Inhibition ◽  
Rating Scales ◽  
Psychiatric Symptoms ◽  
Fragile X ◽  
Fmr1 Premutation ◽  
Symptom Dimensions ◽  
Cgg Repeats ◽  
Cerebellar Peduncles ◽  
Ataxia Syndrome

Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the FMR1 premutation.Methods and Sample: A total of 47 female premutation carriers (sub-symptomatic for FXTAS) of wide age range (26–77 years; M = 50.3; SD = 10.9) were assessed using standard neuropsychological tests, three motor rating scales and self-reported measures of psychiatric symptoms using the Symptom Checklist-90-Revised (SCL-90-R).Results: After adjusting for age and educational level where appropriate, both non-verbal reasoning and response inhibition as assessed on the Stroop task (i.e., the ability to resolve cognitive interference) were associated with a range of primary psychiatric symptom dimensions, and response inhibition uniquely predicted some primary symptoms and global psychiatric features. Importantly, lower scores (worse performance) in response inhibition were also strongly correlated with higher (worse) scores on standard motor rating scales for tremor-ataxia and for parkinsonism.Conclusion: These results provide evidence for the importance of response inhibition in the manifestation of psychiatric symptoms and subtle tremor-ataxia motor features, suggestive of the presence of early cerebellar changes in female premutation carriers.

scholarly journals DIGESTIVE AND RESPIRATORY DISORDERS WITH INTRANUCLEAR INCLUSION BODIES IN TWO CALVES

1974 ◽  
Vol 25 (4) ◽  
pp. 5
Author(s):  
Χ. ΠΑΠΑΔΟΠΟΥΛΟΣ ◽  
Ε. ΣΙΜΟΣ
Keyword(s):  
Inclusion Bodies ◽  
The Other ◽  
Capillary Endothelium ◽  
Nuclear Inclusions ◽  
Nuclear Inclusion ◽  
Intranuclear Inclusion ◽  
Respiratory Disorders

The authors give a cytological description of liver and kidneys from two cal ves with digestive and respiratory troubles. Characteristic spherical nuclear inclusions were noticed. In one calf nuclear inclusion were noticed. In the other calf acidophilic nuclear inclusions were found in the kidneys •capillary endothelium especially in the cortex and partial vacuolated degeneration in the myocardial fibres.

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