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Shigeaki Kobayashi and Akio Morita

within spinal canal of cervical spines (in Japanese, English abstr.) . Arch Jpn Chir. 1960;29:1003-7. 86. Hirabayashi K, Watanabe K, Wakano K, Suzuki N, Satomi K, Ishii Y. Expansive open-door laminoplasty for cervical spinal stenotic myelopathy. Spine (Phila Pa 1976). 1983;8(7):693-9. 87. Nakajima M, Takahashi A, Tsuji T, Karasugi T, Baba H, Uchida K, et al. A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. Nat Genet. 2014;46(9):1012-6. 88

Open access

Lech Dudarewicz, Anna Krzymińska, Wanda Hawuła, Magdalena Kozłowska, Urszula Laskowska, Agnieszka Gach, Maciej Borowiec, Wojciech Młynarski, Wojciech Ałaszewski and Lucjusz Jakubowski

Abstract

Objective of the study:

At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap.

Material & Method:

Amniotic fluid samples or chorionic villi from:

137 fetuses with abnormalities in two or more organ systems

96 fetuses with nuchal translucency above 3.5 mm (99th centile),

85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies.

Results:

In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found.

Conclusion:

The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.

Open access

Henu Kumar Verma, Saikrishna Lakkakula and Bhaskar V.K.S. Lakkakula

Science 1949 110 2865 543 8 [2] Ruangrai W, Jindadamrongwech S. GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN beta-THALASSEMIA/HB E DISEASE. The Southeast Asian journal of tropical medicine and public health 2016;47(1):84-91. Ruangrai W Jindadamrongwech S. GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN beta-THALASSEMIA/HB E DISEASE The Southeast Asian journal of tropical medicine and public health 2016 47 1 84 91 [3] Kwiatkowski DP. How malaria has affected the human genome and what human genetics can teach us about malaria. Am J Hum Genet 2005

Open access

Dorota Link-Lenczowska and Tomasz Sacha

topnienia (HRM) [ 15 ] oraz sekwencjonowania Sangera [ 16 ]. Dodatkowo, stosując sekwencjonowanie Sangera, analizowano aberracje w eksonie 13 genu ASXL1 [ 17 ]. Wykrywane zmiany identyfikowano w oparciu o sekwencje referencyjne ludzkiego genomu dla genów: CALR , RefSeq:NM_004343.3, MPL RefSeq:NM_005373.2, ASXL1 , RefSeq:NM_015338.5, dostępne w metabazie NCBI ( National Center for Biotechnology Information ). Następnie każdy wariant genu opisano w notacji nukleotydowej oraz aminokwasowej zgodnie z wytycznymi HGVS ( Human Genome Variation Society ) z 2016 roku. Po

Open access

Mateusz Nowicki, Piotr Stelmach and Anna Szmigielska-Kapłon

-017-3133-4 Nowicki M Wierzbowska A Małachowski R Robak T Grzybowska‑Izydorczyk O Pluta A VEGF, ANGPT1, ANGPT2, and MMP-9 expression in the autologous hematopoietic stem cell transplantation and its impact on the time to engraftment Ann Hematol 2017 96 12 2103 12 10.1007/s00277-017-3133-4 [90] Sundaravinayagam D, Kim HR, Wu T, et al. miR146a-mediated targeting of FANCM during inflammation compromises genome integrity. Oncotarget 2016;19;7(29):45976–94. doi: 10.18632/oncotarget.10275. Sundaravinayagam D Kim HR Wu T miR146a

Open access

Dorota Link-Lenczowska, Łukasz Dryja, Barbara Zapała, Dorota Krochmalczyk and Tomasz Sacha

_630 ( Locus Reference Genomic ) pod kątem obecności mutacji w eksonie 13 genu ASXL1 . Weryfikację obecności mutacji przeprowadzono z wykorzystaniem programu SeqScape Software v2.7 ( Thermo Fisher Scientific ). Dodatkowo każdą z sekwencji analizowano manualnie przy użyciu programu FinchTV (Geospiza). Zgodnie z wytycznymi Human Genome Variation Society (HGVS) z 2016 roku wykryte mutacje opisano w notacji nukleotydowej oraz aminokwasowej, wskazując rodzaj oraz miejsce występowania aberracji na poziomie DNA oraz białka. W niniejszej pracy delecja 52 par zasad (typ