scholarly journals Ataxia-telangiectasia

2018 ◽  
Vol 4 (2) ◽  
pp. e228 ◽  
Author(s):  
Vincenzo Leuzzi ◽  
Daniela D'Agnano ◽  
Michele Menotta ◽  
Caterina Caputi ◽  
Luciana Chessa ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Late Onset ◽  
Brain Mri ◽  
Healthy Controls ◽  
Transcriptome Profile ◽  
Factors Affecting ◽  
Therapeutic Implications ◽  
Atm Protein ◽  
Disease Variant ◽  
Blood Transcriptome

ObjectiveAtaxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course.MethodsA 24-year-old woman developed, by the age of 3 years, all the classic symptoms of AT associated with increased alpha-fetoprotein levels, a compound AT-mutated (ATM) genotype with an inframe deletion c.2250G>A (p.Glu709_Lys750del42) and a missense mutation c.8122G>A (p.Asp2708Gln), and no residual ATM protein expression. By the age of 12 years, ataxia slowly disappeared, and a very mild choreic disorder was the only neurologic feature in adulthood. Brain MRI was normal. The blood transcriptome profile was assessed and compared with that of healthy controls and patients with the classic AT phenotype.ResultsThe atypical clinical course of the patient was associated with a transitional transcriptome profile: while 90% of transcripts were expressed as in patients with the classic AT presentation, 10% of transcripts were expressed as in healthy controls.ConclusionsThe unexpected mild clinical outcome and transcriptome profile of this patient with AT suggest the existence of individual resilience to the altered ATM synthesis. Because of their possible prognostic and therapeutic implications, the identification of modifier factors affecting the phenotype would deserve further studies.

scholarly journals Ataxia teleangiectasia. Az idegrendszeri érintettség prototípusa primer immundefektusokban

2018 ◽  
Vol 159 (49) ◽  
pp. 2057-2064
Author(s):  
Zoltán Liptai
Keyword(s):  
Immune Deficiency ◽  
Ataxia Telangiectasia ◽  
Late Onset ◽  
Brain Mri ◽  
Cerebellar Atrophy ◽  
Biallelic Mutation ◽  
Pathogenic Variants ◽  
Diagnostic Difficulties ◽  
Immune Deficiencies ◽  
Atm Gene

Abstract: The number of primary immune deficiencies exceeds 350, approximately a quarter of them having neurological implications. Severe central nervous system infections may occur in an even higher proportion. Beyond listing in a table of all diseases with a neurological impact, the author gives detailed analysis of one typical disorder. Ataxia telangiectasia is caused by biallelic mutation of the ATM gene resulting in genomic instability, increased cancer risk, immune deficiency and a predominantly cerebellar neurodegeneration. The most common classic form is characterized by gait and limb ataxia, oculomotor apraxia, choreoathetosis, disturbance of speech and swallowing, less often by other movement disorders. There is no remarkable cognitive deficit. Telangiectasia of the conjunctivae and skin usually appears after 6 years of age. Frequent, especially severe sino-pulmonary infections may indicate the immune deficiency present in 60 to 80% of patients, who are also prone to malignancies. The clinical course is sometimes atypical or has a late onset which results in diagnostic difficulties. Serum alpha-fetoprotein level is elevated in nearly all patients. Brain MRI shows progressive cerebellar atrophy starting at the age of 7–8 years. DNA testing of the ATM gene is necessary for the diagnosis. The detected biallelic pathogenic variants provide help for family planning and for possible gene therapies in the future. Ataxia telangiectasia has to be differentiated from a number of other disorders, some of which also belong to primary immune deficiencies. The disorder has no causal treatment at present, the patients live until their young adult ages. Orv Hetil. 2018; 159(49): 2057–2064.

scholarly journals Blood transcriptome analysis of patients with uncomplicated bacterial infection and sepsis

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Velma Herwanto ◽  
Benjamin Tang ◽  
Ya Wang ◽  
Maryam Shojaei ◽  
Marek Nalos ◽  
...  
Keyword(s):  
Bacterial Infection ◽  
Healthy Controls ◽  
Beta Globin ◽  
Transcriptome Data ◽  
Valuable Resource ◽  
Globin Mrna ◽  
Blood Samples ◽  
Data Description ◽  
Pathway Activation ◽  
Blood Transcriptome

Abstract Objectives Hospitalized patients who presented within the last 24 h with a bacterial infection were recruited. Participants were assigned into sepsis and uncomplicated infection groups. In addition, healthy volunteers were recruited as controls. RNA was prepared from whole blood, depleted from beta-globin mRNA and sequenced. This dataset represents a highly valuable resource to better understand the biology of sepsis and to identify biomarkers for severe sepsis in humans. Data description The data presented here consists of raw and processed transcriptome data obtained by next generation RNA sequencing from 105 peripheral blood samples from patients with uncomplicated infections, patients who developed sepsis, septic shock patients, and healthy controls. It is provided as raw sequenced reads and as normalized log2 transformed relative expression levels. This data will allow performing detailed analyses of gene expression changes between uncomplicated infections and sepsis patients, such as identification of differentially expressed genes, co-regulated modules as well as pathway activation studies.

scholarly journals The role of serum β-trophin and endostatin in patients with polycystic ovary syndrome: Are they correlated?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Gong ◽  
Aikmu Bilixzi ◽  
Xinmei Wang ◽  
Yanli Lu ◽  
Li Wan ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Influencing Factors ◽  
Polycystic Ovary ◽  
Pearson Correlation ◽  
Healthy Controls ◽  
Newly Diagnosed ◽  
Ovary Syndrome ◽  
Factors Affecting ◽  
Main Factors

Abstract Background It’s necessary to investigate the serum β-trophin and endostatin (ES) level and its influencing factors in patients with newly diagnosed polycystic ovary syndrome (PCOS). Methods Newly diagnosed PCOS patients treated in our hospital were selected, and healthy women who took physical examination during the same period as healthy controls. We detected and compared the related serum indicators between two groups, Pearson correlation were conducted to identify the factors associated with β-trophin and ES, and the influencing factors of β-trophin and ES were analyzed by logistic regression. Results A total of 62 PCOS patients and 65 healthy controls were included. The BMI, WHI, LH, FSH, TT, FAI, FBG, FINS, HOMA-IR, TC, TG, LDL, ES in PCOS patients were significantly higher than that of healthy controls, while the SHBG and HDL in PCOS patients were significantly lower than that of healthy controls (all p < 0.05). β-trophin was closely associated with BMI (r = 0.427), WHR (r = 0.504), FBG (r = 0.385), TG (r = 0.405) and LDL (r = 0.302, all p < 0.05), and ES was closely associated with BMI (r = 0.358), WHR (r = 0.421), FBG (r = 0.343), TC (r = 0.319), TG (r = 0.404, all p < 0.05). TG, BMI, WHR and FBG were the main factors affecting the serum β-trophin levels (all p < 0.05). FBG, TC and BMI were the main factors affecting the serum ES levels (all p < 0.05). The TG, β-trophin, ES level in PCOS patients with insulin resistance (IR) were significantly higher than that of those without IR (all p < 0.05). Conclusion Increased β-trophin is closely associated with increased ES in patients with PCOS, which may be the useful indicators for the management of PCOS.

scholarly journals Generation of three human iPSC lines from patients with a spontaneous late-onset Alzheimer’s disease and three sex- and age-matched healthy controls

2021 ◽  
Vol 53 ◽  
pp. 102378
Author(s):  
Jan Raska ◽  
Hana Klimova ◽  
Katerina Sheardova ◽  
Veronika Fedorova ◽  
Hana Hribkova ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Healthy Controls ◽  
Human Ipsc

scholarly journals Stable Brain ATM Message and Residual Kinase-Active ATM Protein in Ataxia-Telangiectasia

2011 ◽  
Vol 31 (20) ◽  
pp. 7568-7577 ◽  
Author(s):  
J. Li ◽  
J. Chen ◽  
H. V. Vinters ◽  
R. A. Gatti ◽  
K. Herrup
Keyword(s):  
Ataxia Telangiectasia ◽  
Atm Protein

scholarly journals Placental Factors Affecting Birth Weight of Late Onset Severe Preeclampsia

2018 ◽  
Vol 1 (3) ◽  
pp. 149-156
Author(s):  
A Martadiansyah ◽  
W T Pangemanan ◽  
N Bernolian ◽  
H Maulani ◽  
Theodorus Theodorus
Keyword(s):  
Birth Weight ◽  
Late Onset ◽  
Severe Preeclampsia ◽  
Case Group ◽  
Factors Affecting ◽  
Positive Correlation ◽  
Regression Test ◽  
Fibrin Thrombi ◽  
Logistic Regression Test ◽  
Control Study

Objective of the study is to determine the correlation of placenta and birth weight in late onset preeclampsia. A case-control study,analysis prevalence was conducted in Moh Hoesin Hospital Palembang from August 2015 to August 2016. Samples were women who giving birth in Moh Hoesin Hospital Palembang. They were devided into two groups, severe preeclampsia as case group and normotension as control. Data were analyzed by X2, Exact Fisher’s and logistic regression test using SPSS 16.0. There were 180 subjects (90 cases and 90 controls). There was a positive correlation between placental macroscopic and late onset preeclampsia (p=0.009; OR=6.9), in contrast there was only one different placental microvascularisation of 16, between late onset preeclampsia and normotension, the mural or occlusive fibrin thrombi chorion (p=0.005; OR=9.9). Birth weight in late onset preeclampsia tended to be small but still in normal range and it was not statistictly significant (p=0.112; OR=10.4). There was a positive correlation between placental macroscopic and SGA baby on late onset preeclampsia (p=0.026; OR=16.6), but it wasnot proven microscopically. Placenta remains contributed to the pathogenesis of the late onset preeclampsia, but not as dominant as the early one.

scholarly journals Infant and Child MRI: A Review of Scanning Procedures

2021 ◽  
Vol 15 ◽  
Author(s):  
Anni Copeland ◽  
Eero Silver ◽  
Riikka Korja ◽  
Satu J. Lehtola ◽  
Harri Merisaari ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Brain Mri ◽  
Research Field ◽  
Quality Data ◽  
Birth Cohort Study ◽  
Success Rates ◽  
Older Children ◽  
Factors Affecting ◽  
Scanning Procedure ◽  
Magnetic Resonance Imaging Mri

Magnetic resonance imaging (MRI) is a safe method to examine human brain. However, a typical MR scan is very sensitive to motion, and it requires the subject to lie still during the acquisition, which is a major challenge for pediatric scans. Consequently, in a clinical setting, sedation or general anesthesia is often used. In the research setting including healthy subjects anesthetics are not recommended for ethical reasons and potential longer-term harm. Here we review the methods used to prepare a child for an MRI scan, but also on the techniques and tools used during the scanning to enable a successful scan. Additionally, we critically evaluate how studies have reported the scanning procedure and success of scanning. We searched articles based on special subject headings from PubMed and identified 86 studies using brain MRI in healthy subjects between 0 and 6 years of age. Scan preparations expectedly depended on subject’s age; infants and young children were scanned asleep after feeding and swaddling and older children were scanned awake. Comparing the efficiency of different procedures was difficult because of the heterogeneous reporting of the used methods and the success rates. Based on this review, we recommend more detailed reporting of scanning procedure to help find out which are the factors affecting the success of scanning. In the long term, this could help the research field to get high quality data, but also the clinical field to reduce the use of anesthetics. Finally, we introduce the protocol used in scanning 2 to 5-week-old infants in the FinnBrain Birth Cohort Study, and tips for calming neonates during the scans.

scholarly journals Estrogen receptor alpha gene polymorphisms in patients with late onset Alzheimer’s disease

Genetika ◽  
2014 ◽  
Vol 46 (2) ◽  
pp. 437-444 ◽  
Author(s):  
Nasim Sohrabifar ◽  
Jalal Gharesouran ◽  
Mahnaz Talebi ◽  
Morteza Ghojazadeh ◽  
Ardebili Mohaddes
Keyword(s):  
Estrogen Receptor ◽  
Late Onset ◽  
Case Control ◽  
Estrogen Signaling ◽  
Control Group ◽  
Additional Risk Factor ◽  
Healthy Controls ◽  
Genotype Frequencies ◽  
Estrogen Receptor Alpha Gene ◽  
Disease Case

Evidences have been gathered from several studies suggest that a mechanism involving an estrogen-signaling pathway may contribute to modulate risk for Alzheimer?s disease. It was demonstrated that estrogen up-regulates the expression of apolipoprotein E gene, which has a role in the metabolism of b-amyloid that is related to the progress of Alzheimer?s disease. Case-control studies have found an increased frequency of PvuII and XbaI polymorphisms in affected subjects. In this study we explore the possible association of different polymorphic forms of human a-estrogen receptor (ER- a) with the risk to late onset Alzheimer?s disease in north-west Iranian population. We conducted a case-control study in a dataset of 160 LOAD patients and 163 healthy controls that have been matched in gender and age. To evaluate the PvuII and XbaI polymorphisms in Alzheimer?s disease we used PCR/RFLP method and genotype frequencies were statistically determined. The PCR products prepared from 21 AD cases and 20 healthy controls were randomly purified by ethanol precipitation and bidirectionally sequenced. The frequency of normal and mutated alleles for PvuII and XbaI locuses respectively, in the LOAD group were significantly higher than those in the control group (P<0.001, OR=0.51, 95 % CI 0.35-0.74 for XbaI locus; P<0.001, OR=0.41, 95 % CI 0.3-0.57 for PvuII locus). This result suggests that ER? XbaI and PvuII polymorphism is an additional risk factor for late-onset Alzheimer?s disease.

scholarly journals Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing

2021 ◽  
Vol 33 (4) ◽  
pp. 301-310
Author(s):  
Andreas Thieme ◽  
Christel Depienne ◽  
Dagmar Timmann
Keyword(s):  
Cerebellar Ataxia ◽  
Chronic Cough ◽  
Late Onset ◽  
Neurological Diseases ◽  
Brain Mri ◽  
Genetic Research ◽  
Sensory Nerve ◽  
Repeat Expansions ◽  
Factor C ◽  
Pentanucleotide Repeat

Abstract The cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset and recessively inherited ataxia. For many years, CANVAS has been diagnosed based on the clinical phenotype. Only recently, a large biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene has been identified as the underlying genetic cause for the large majority of CANVAS cases. Subsequently, other phenotypes such as ataxia with chronic cough, incomplete CANVAS and MSA-C-like phenotypes have been associated with biallelic RFC1 repeat expansions. Because of this heterogeneity it has been suggested to change the name of the disease to “RFC1 disease”. Chronic cough is characteristic and can precede neurological symptoms by years or decades. In the neurological examination signs of cerebellar, sensory, and vestibular ataxia are frequently observed. Nerve conduction studies usually show absent or markedly reduced sensory nerve action potentials. On brain MRI cerebellar degeneration and spinal cord alterations are common. In later disease stages more widespread neurodegeneration with additional involvement of the brainstem and basal ganglia is possible. As yet, the exact incidence of RFC1-associated neurological diseases remains uncertain although first studies suggest that RFC1-related ataxia is common. Moreover, the pathophysiological mechanisms caused by the large biallelic pentanucleotide repeat expansions in RFC1 remain elusive. Future molecular and genetic research as well as natural history studies are highly desirable to pave the way towards personalized treatment approaches.

scholarly journals Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

2009 ◽  
Vol 36 (4) ◽  
pp. 409-428 ◽  
Author(s):  
Josef Finsterer
Keyword(s):  
Ataxia Telangiectasia ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Fragile X ◽  
Axonal Neuropathy ◽  
Friedreich Ataxia ◽  
Point Mutations ◽  
Spinocerebellar Ataxias

Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.**Please see page 424 for abbreviation list.

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