scholarly journals Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

2018 ◽  
Vol 154 (4) ◽  
pp. 187-195
Author(s):  
Pavel Tesner ◽  
Marketa Vlckova ◽  
Jana Drabova ◽  
Jan Vseticka ◽  
Anna Klimova ◽  
...  
Keyword(s):  
De Novo ◽  
Marker Chromosome ◽  
Good Prognosis ◽  
Healthy Children ◽  
Informed Decision Making ◽  
Multicolor Fish ◽  
Molecular Cytogenetic ◽  
Chromosomal Origin ◽  
Apparently Healthy

The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations.

Age development of cortical rhythmics in the EEG depending on the formation of the child’s personal psychical characteristics

2019 ◽  
Vol 1 (8) ◽  
pp. 42-50
Author(s):  
A. V. Budkevich ◽  
L. B. Ivanov ◽  
G. R. Novikova ◽  
G. M. Dzhanumova
Keyword(s):  
Alpha Rhythm ◽  
Age Groups ◽  
Healthy Children ◽  
Brain Organization ◽  
Age Related ◽  
Mathematical Processing ◽  
Functional Brain Organization ◽  
Child's Brain ◽  
Attention Function ◽  
Apparently Healthy

According to the authors, rationing the age-related EEG parameters in children should be based on personal psychical characteristics. A comparative analysis of personal psychical characteristics and electroencephalographic data was carried out in 300 apparently healthy children aged 3-15 years. According to this principle, two subgroups of conditionally healthy children in each age group were singled out: 1) with an immature attention function and 2) with an increased anxious background that do not reach the pathological level. Registration and analysis of EEG was performed by the Neurokariograf computer complex (MBN, Moscow) using mathematical processing methods.The EEG interpretation was based on the principle of assessing the functional state of a child's brain using a three-component model according to: 1) wakefulness level and its dissociation, 2) severity of signs of the EEG neurotic pattern, 3) directionality of formation of traits of the system-functional brain organization (severity of signs functional hypofrontality).lt was found the presence of EEG signs was indicative of a lower level of wakefulness in children with an immature function of attention in all age groups, compared with the indicators of the average population of group and children with an increased background of anxiety. Children with an increased background of anxiety have a tendency to prevalence and excessive spatial synchronization of the alpha rhythm. ln healthy children, the fact of a decrease in wakefulness and the presence of signs of anxiety in the clinic and in EEG patterns indicates individual personalities and should not be considered as pathology.

Is 3 years adequate for tracking completely occluded coiled aneurysms?

2020 ◽  
Vol 133 (3) ◽  
pp. 758-764
Author(s):  
Eung Koo Yeon ◽  
Young Dae Cho ◽  
Dong Hyun Yoo ◽  
Su Hwan Lee ◽  
Hyun-Seung Kang ◽  
...  
Keyword(s):  
De Novo ◽  
Careful Monitoring ◽  
Surveillance Period ◽  
Radiological Data ◽  
De Novo Aneurysm ◽  
Low Probability ◽  
Almost All ◽  
Annual Risk

OBJECTIVEThe authors conducted a study to ascertain the long-term durability of coiled aneurysms completely occluded at 36 months’ follow-up given the potential for delayed recanalization.METHODSIn this retrospective review, the authors examined 299 patients with 339 aneurysms, all shown to be completely occluded at 36 months on follow-up images obtained between 2011 and 2013. Medical records and radiological data acquired during the extended monitoring period (mean 74.3 ± 22.5 months) were retrieved, and the authors analyzed the incidence of (including mean annual risk) and risk factors for delayed recanalization.RESULTSA total of 5 coiled aneurysms (1.5%) occluded completely at 36 months showed recanalization (0.46% per aneurysm-year) during the long-term surveillance period (1081.9 aneurysm-years), 2 surfacing within 60 months and 3 developing thereafter. Four showed minor recanalization, with only one instance of major recanalization. The latter involved the posterior communicating artery as an apparent de novo lesion, arising at the neck of a firmly coiled sac, and was unrelated to coil compaction or growth. Additional embolization was undertaken. In a multivariate analysis, a second embolization for a recurrent aneurysm (HR = 22.088, p = 0.003) independently correlated with delayed recanalization.CONCLUSIONSAlmost all coiled aneurysms (98.5%) showing complete occlusion at 36 months postembolization proved to be stable during extended observation. However, recurrent aneurysms were predisposed to delayed recanalization. Given the low probability yet seriousness of delayed recanalization and the possibility of de novo aneurysm formation, careful monitoring may be still considered in this setting but at less frequent intervals beyond 36 months.

scholarly journals Long-term outcomes of fully covered self-expandable metal stents versus plastic stents in chronic pancreatitis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sang Hoon Lee ◽  
Yeon Suk Kim ◽  
Eui Joo Kim ◽  
Hee Seung Lee ◽  
Jeong Youp Park ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Clinical Efficacy ◽  
De Novo ◽  
Plastic Stents ◽  
Metal Stents ◽  
Plastic Stent ◽  
Sems Group ◽  
Spontaneous Migration

AbstractChronic pancreatitis (CP) related main pancreatic duct (MPD) stricture has been a challenge for endoscopists. Fully covered self-expandable metal stents (FC-SEMS) has been tried in CP patients, but the efficacy and safety are still controversial. Thus, we aim to compare the long-term clinical efficacy of FC-SEMS vs. plastic stent placement in persistent MPD strictures secondary to CP. Between 2007 and 2018, 80 chronic pancreatitis patients (58 males, median age 49 years), who underwent endoscopic placement of FC-SEMS (n = 26) and plastic stent (n = 54) for persistent MPD strictures after at least 3 months of initial single plastic stenting, were retrospectively analyzed during a median follow-up duration of 33.7 months. As a result, MPD stricture resolution rate was statistically higher in FC-SEMS group (87.0% vs. 42.0%, p < 0.001). Although immediate complications occurred similarly (38.5% vs. 37.0%, p = 0.902), spontaneous migration (26.9%) and de novo strictures (23.1%) were pronounced delayed complications in FC-SEMS group. Pain relief during follow-up was significantly higher in FC-SEMS group (76.9% vs. 53.7%, p = 0.046). The total procedure cost was similar in both groups ($1,455.6 vs. $1,596.9, p = 0.486). In comparison with plastic stent, FC-SEMS placement for persistent MPD strictures had favorable long-term clinical efficacy, with its typical complications like spontaneous migration and de novo strictures.

scholarly journals Clinical benefit of glasdegib plus low-dose cytarabine in patients with de novo and secondary acute myeloid leukemia: long-term analysis of a phase II randomized trial

2021 ◽  
Author(s):  
Michael Heuser ◽  
B. Douglas Smith ◽  
Walter Fiedler ◽  
Mikkael A. Sekeres ◽  
Pau Montesinos ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Phase Ii ◽  
Clinical Benefit ◽  
Myeloid Leukemia ◽  
Low Dose ◽  
De Novo ◽  
Secondary Acute Myeloid Leukemia ◽  
Low Dose Cytarabine ◽  
Acute Myeloid

AbstractThis analysis from the phase II BRIGHT AML 1003 trial reports the long-term efficacy and safety of glasdegib + low-dose cytarabine (LDAC) in patients with acute myeloid leukemia ineligible for intensive chemotherapy. The multicenter, open-label study randomized (2:1) patients to receive glasdegib + LDAC (de novo, n = 38; secondary acute myeloid leukemia, n = 40) or LDAC alone (de novo, n = 18; secondary acute myeloid leukemia, n = 20). At the time of analysis, 90% of patients had died, with the longest follow-up since randomization 36 months. The combination of glasdegib and LDAC conferred superior overall survival (OS) versus LDAC alone; hazard ratio (HR) 0.495; (95% confidence interval [CI] 0.325–0.752); p = 0.0004; median OS was 8.3 versus 4.3 months. Improvement in OS was consistent across cytogenetic risk groups. In a post-hoc subgroup analysis, a survival trend with glasdegib + LDAC was observed in patients with de novo acute myeloid leukemia (HR 0.720; 95% CI 0.395–1.312; p = 0.14; median OS 6.6 vs 4.3 months) and secondary acute myeloid leukemia (HR 0.287; 95% CI 0.151–0.548; p < 0.0001; median OS 9.1 vs 4.1 months). The incidence of adverse events in the glasdegib + LDAC arm decreased after 90 days’ therapy: 83.7% versus 98.7% during the first 90 days. Glasdegib + LDAC versus LDAC alone continued to demonstrate superior OS in patients with acute myeloid leukemia; the clinical benefit with glasdegib + LDAC was particularly prominent in patients with secondary acute myeloid leukemia. ClinicalTrials.gov identifier: NCT01546038.

Adherence to RCS recommendations for extraction of first permanent molars in a teaching hospital: To compensate or not to compensate?

2021 ◽  
pp. 146531252199183
Author(s):  
Jed Lee ◽  
Joanna Johnson ◽  
Dirk Bister ◽  
Mohsin Chaudhary ◽  
Golfam Khoshkhounejad
Keyword(s):  
Teaching Hospital ◽  
Poor Prognosis ◽  
Service Evaluation ◽  
Good Prognosis ◽  
Final Decision ◽  
National Guidelines ◽  
High Quality Research ◽  
Permanent Molars ◽  
First Permanent Molars

Objective: To observe whether paediatric dentists and orthodontists balance and compensate the extraction of first permanent molars (FPMs) in children aged 7–11 years. Design: Service evaluation. Setting: UK dental teaching hospital. Methods: Retrospective analysis of FPM extraction patterns in patients aged 7–11 years that attended for extraction of FPMs from 1 January 2019 to 31 January 2020 (13-month period). Results: A total of 194 patients were included and they collectively had 435 FPMs extracted. No balancing extractions to prevent dental centreline shifts and no lower FPM compensatory extractions were performed. Compensatory extraction of good prognosis upper FPMs were performed in 64% (94/146) of cases to avoid overeruption. Orthodontic input was sought for poor prognosis lower FPMs in 76% of cases compared to 51% for poor prognosis upper FPMs. Conclusion: Compensatory extraction of good prognosis upper FPMs to avoid overeruption appears to be a common practice at Guy’s and St Thomas’ Hospitals. There was also higher demand for orthodontic advice for cases presenting with poor prognosis lower FPMs compared to poor prognosis upper FPMs, which suggests that paediatric dentists may prefer for the final decision on upper FPM compensatory extractions to be made by an orthodontist, even with national guidelines available. More high-quality research on the topic is required to determine the necessity of this practice for achieving optimal long-term oral health in children.

scholarly journals Malpigmentation of Common Sole (Solea solea) during Metamorphosis Is Associated with Differential Synaptic-Related Gene Expression

Animals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 2273
Author(s):  
Menelaos Kavouras ◽  
Emmanouil E. Malandrakis ◽  
Ewout Blom ◽  
Kyriaki Tsilika ◽  
Theodoros Danis ◽  
...  
Keyword(s):  
Gene Expression ◽  
Nervous System ◽  
De Novo ◽  
Close Association ◽  
Ionic Channels ◽  
Long Term Potentiation ◽  
General Term ◽  
The Difference ◽  
Common Sole

In farmed flatfish, such as common sole, color disturbances are common. Dyschromia is a general term that includes the color defects on the blind and ocular sides of the fish. The purpose was to examine the difference in gene expression between normal pigmented and juveniles who present ambicoloration. The analysis was carried out with next-generation sequencing techniques and de novo assembly of the transcriptome. Transcripts that showed significant differences (FDR < 0.05) in the expression between the two groups, were related to those of zebrafish (Danio rerio), functionally identified, and classified into categories of the gene ontology. The results revealed that ambicolorated juveniles exhibit a divergent function, mainly of the central nervous system at the synaptic level, as well as the ionic channels. The close association of chromophore cells with the growth of nerve cells and the nervous system was recorded. The pathway, glutamate binding–activation of AMPA and NMDA receptors–long-term stimulation of postsynaptic potential–LTP (long term potentiation)–plasticity of synapses, appears to be affected. In addition, the development of synapses also seems to be affected by the interaction of the LGI (leucine-rich glioma inactivated) protein family with the ADAM (a disintegrin and metalloprotease) ones.

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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