scholarly journals Nemaline Myopathy: A Case Report

2021 ◽  
pp. 499-503
Author(s):  
Adnan A. Mubaraki
Keyword(s):  
Correct Diagnosis ◽  
Nerve Biopsy ◽  
Nemaline Myopathy ◽  
High Yield ◽  
Congenital Diseases ◽  
History Of ◽  
Congenital Myasthenia ◽  
Next Generation Sequencing Ngs ◽  
Undiagnosed Diseases ◽  
Generation Sequencing

Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve biopsy, more previously undiagnosed diseases of the muscles are now labeled with specific pathogenicity. A 16-year-old-girl diagnosed with nemaline myopathy but previously was misdiagnosed with congenital myasthenia and put-on unnecessary medications. Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.

scholarly journals A Review of the Application of Next Generation Sequencing (NGS) in Wild Terrestrial Vertebrate Research

2019 ◽  
pp. 1-9 ◽  
Author(s):  
Ramitha Arumugam ◽  
Joey Ee Uli ◽  
Geetha Annavi
Keyword(s):  
Life Science ◽  
Review Paper ◽  
High Reliability ◽  
Next Generation ◽  
Detailed Understanding ◽  
Terrestrial Vertebrate ◽  
Look Back ◽  
History Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

In era of sequencing revolution, scientists seek for knowledge about the ever-expanding field of technology, Next Generation Sequence (NGS) to be applied in their research due to its high reliability and rate of discovery. What is NGS? To obtain a detailed understanding about NGS, it is required to look back the history of sequencing and how the NGS stepped into life science. This review paper gives an overview of NGS projects in wild terrestrial vertebrate including applications such as whole genome sequencing and metagenomics.

scholarly journals Precision Medicine and Precision Public Health in the Era of Pathogen Next-Generation Sequencing

2019 ◽  
Vol 221 (Supplement_3) ◽  
pp. S289-S291 ◽  
Author(s):  
Mariana Leguia ◽  
Anton Vila-Sanjurjo ◽  
Patrick S G Chain ◽  
Irina Maljkovic Berry ◽  
Richard G Jarman ◽  
...  
Keyword(s):  
Public Health ◽  
Next Generation Sequencing ◽  
Infectious Diseases ◽  
Next Generation ◽  
The Past ◽  
Infectious Disease Research ◽  
History Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Health Applications

Abstract This brief report serves as an introduction to a supplement of the Journal of Infectious Diseases entitled “Next-Generation Sequencing (NGS) Technologies to Advance Global Infectious Disease Research.” We briefly discuss the history of NGS technologies and describe how the techniques developed during the past 40 years have impacted our understanding of infectious diseases. Our focus is on the application of NGS in the context of pathogen genomics. Beyond obvious clinical and public health applications, we also discuss the challenges that still remain within this rapidly evolving field.

scholarly journals Ancient human DNA: A history of hype (then and now)

2021 ◽  
pp. 146960532199011
Author(s):  
Elizabeth D Jones ◽  
Elsbeth Bösl
Keyword(s):  
Current Debate ◽  
Chain Reaction ◽  
Hype Cycle ◽  
Human Dna ◽  
Celebrity Status ◽  
History Of ◽  
Polymerase Chain ◽  
And Migration ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

In this article on the history of ancient DNA research, we argue that the innovation of next-generation sequencing (NGS) of the early 2000s has ushered in a second hype cycle much like the first hype cycle the field experienced in the 1990s with the advent of the polymerase chain reaction (PCR). While the first hype cycle centered around the search for the oldest DNA, the field’s current optimism today promotes the rhetoric of revolution surrounding the study of ancient human gnomes. This is evidenced from written sources and personal interviews with researchers who feel the vast amount of data, the conclusions being made from this data, and the ever-increasing celebrity status of the field are perhaps moving too fast for their own good. Here, we use the concept of contamination, in both a literal and figurative understanding of the term, to explore the field’s continuities and disparities. We also argue that a number of additional, figurative interpretations of “contamination” are useful for navigating the current debate between geneticists and archaeologists regarding the origin, evolution, and migration of ancient humans across space and time. Our historical outlook on aDNA’s disciplinary development, we suggest, is necessary to accurately appreciate the state of the field, how it came to be, and where it might go in the future.

scholarly journals OMICs Role in Hereditarian Prostate Cancer

Proceedings ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 5
Author(s):  
Sergio Cuenca-Lopez ◽  
Patricia Maria Porras-Quesada ◽  
Fernando Vazquez-Alonso ◽  
Victor Sanchez-Conde ◽  
Maria del Pilar Gomez-Matas ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Degree Relative ◽  
High Incidence ◽  
The World ◽  
Risk Patients ◽  
History Of ◽  
Low Incidence ◽  
New Biomarkers ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Prostate cancer (PC) is one of the most prevalent tumours in the world, however, the hereditary (Hereditary PC; HPC) form is a rare pathology, that does not exceed 6%. Despite its very low incidence, a family history of PC in a first-degree relative multiplies the risk of suffering from PC by approximately two-fold. Therefore, the search for genetic variables associated with the detection, monitoring and treatment of the condition is paramount. In this study, we conduct deep screening of exomes by next-generation sequencing (NGS) analysis in search of new biomarkers. We performed this analysis in a family with a high incidence of PC. Our data reveal that variants in some genes, such as HIBCH and DPP4, are present in all HPC patients. Moreover, high-risk patients have unique additional variants, such as FANK1, TUBA3FP and ALDH3B2. These results provide a new set of promising biomarkers in HCP.

scholarly journals OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Franco Brunello ◽  
E Gabriela Sansó ◽  
Paula Scaglia ◽  
María Esnaola Azcoiti ◽  
Ariel Berenstein ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Clinical Suspicion ◽  
Gene Variants ◽  
High Prevalence ◽  
History Of ◽  
Potential Pathogenicity ◽  
Next Generation Sequencing Ngs ◽  
Prepubertal Age ◽  
Generation Sequencing ◽  
Low Serum

Abstract Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are normally low. Sertoli cell markers, like AMH and inhibin B, may be useful. In recent years, with the development of next generation sequencing (NGS) technology, the number of genes associated with central hypogonadism has had an exponential increase. However, even with these advanced techniques, the gene variants with potential pathogenicity can be found at present in only 30-50% of the patients. Hypothesis of the study: Low serum AMH is an appropriate screening biomarker to select patients for NGS, in order to make a genetic diagnosis in boys of prepubertal age with suspected central hypogonadism. Patients and methods: All patients aged 1-10 yr referred between 2001 and 2018 with clinical suspicion of central hypogonadism (micropenis and cryptorchidism and/or microorchidism), with low serum AMH (<10th centile) were included. Serum AMH was determined by ELISA (Beckman-Coulter), and LH, FSH and testosterone (T) by ECLIA (Roche). NGS was performed with the TruSight™ One Sequencing Panel in a NextSeq® 500 sequencer (Illumina). Results are expressed as medians (range). Results: 13 patients were included. Age at first visit was 4.4 (0.1-9.2) yr. Cryptorchidism was present in all of them, micropenis in 10 and microorchidism in 11. Orchiopexy was required in 11 boys and the other 2 responded to hCG treatment. 4 patients had olfactory disturbances, 1 had sensory deafness and 1 had piebaldism. 2 patients had a family history of olfactory disturbances and/or central hypogonadism. 7 patients could be followed up to pubertal age, and the diagnosis of central hypogonadism was clinically confirmed. At age 6.1 yr (1.2-10), AMH was 159 pmol/L (65-363), LH was <0.1 IU/L in all, FSH was 0.61 IU/L (<0.1-1.9). 17 variants in 9 genes associated with central hypogonadism were found in 10 of 13 patients. 5 boys had 1 gene variant, while 4 had 2 gene variants and 1 had 3 gene variants indicating probable oligogenicity, in the following genes: FGFR1 (n:4), CHD7 (n:3), PROKR2 (n:2), SOX10 (n:2), AXL (n:2), HS6ST1 (n:1), AMHR2 (n:1), NSMF (n:1), DCC (n:1). Conclusion: A high prevalence of gene variants was found in boys of prepubertal age with a suspicion of central hypogonadism based on micropenis and cryptorchidism and/or microorchidism with low serum AMH.

scholarly journals A case of tick-transmitted Q fever in Lishui, China diagnosed by next-generation sequencing

2021 ◽  
Vol 49 (9) ◽  
pp. 030006052110253
Author(s):  
Jinwei Huang ◽  
Rui Wang ◽  
Can Gao ◽  
Yuankai Lü ◽  
Zhuo Cao ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Coxiella Burnetii ◽  
Q Fever ◽  
Recurrent Fever ◽  
Next Generation ◽  
Imaging Data ◽  
History Of ◽  
Patient Responses ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Q fever is a zoonotic disease caused by Coxiella burnetii. Most patients have non-specific symptoms at onset. In addition, routine diagnostic tests for C. burnetii are not sensitive, and the bacterium cannot grow in general culture medium. The diagnosis of Q fever therefore poses a challenge. This case study describes a man with a clear history of tick bite who had recurrent fever, pneumonia, and liver damage. Routine tests and bacterial cultures failed to clarify the pathogeny, but laboratory and imaging data suggested infection. After routine tests were exhausted, we detected the presence of C. burnetii in a whole blood sample using next-generation sequencing (NGS). To our knowledge, this is the first report of Q fever associated with Coxiella burnetii detected directly from blood samples in Lishui, China. NGS has revolutionized the diagnosis of infectious diseases, especially those caused by rare or newly discovered pathogens, and patient responses have finally proved its substantial benefits. NGS has important clinical significance for the early diagnosis of chronic Q fever. This proof-of-concept study is worthy of promotion in clinical practice.

scholarly journals Súlyos epilepsziás encephalopathia hátterében azonosított MECP2-gén-mutáció fiúbetegben

2019 ◽  
Vol 160 (51) ◽  
pp. 2036-2039
Author(s):  
Adrienn Düh ◽  
Ágnes Till ◽  
Zsolt Bánfai ◽  
Márta Hegyi ◽  
Béla Melegh ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Wide Spectrum ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Epileptic Encephalopathy ◽  
Mecp2 Gene ◽  
Developmental Skills ◽  
Clinical Investigations ◽  
History Of ◽  
Next Generation Sequencing Ngs

Abstract: Here we report on a severe, neonatal onset epileptic encephalopathy manifested in a currently 2-year-old boy with no family history of neurological disease. Extensive clinical investigations were unable to clarify the etiology of the infant’s condition characterized by drug-resistant seizures and markedly delayed developmental skills. As in this class of disorders a genetic cause might be identified, a next-generation sequencing (NGS) epilepsy panel examination consisting of 128 genes was initiated for a correct diagnosis. The genetic analysis identified a previously undescribed hemizygous missense mutation in the MECP2 gene. Similarly to other, X-linked dominant disorders, Rett syndrome was originally hypothesized to be lethal in males. This theory, however, has been revised. The aim of this report is to review the wide spectrum of neurodevelopmental diseases observed in male patients carrying mutations in the MECP2 gene classically associated with Rett syndrome in girls. To the author’s knowledge, this is the first report in Hungary to document MECP2 mutation of a male patient diagnosed by molecular genetic testing. Orv Hetil. 2019; 160(51): 2036–2039.

scholarly journals Follow-up Next Generation Sequencing (NGS) Analyses on Clonal Chronic Idiopathic Neutropenia (CIN) Patients: Insights in the Natural History of the Disease

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 987-987
Author(s):  
Grigorios Tsaknakis ◽  
Stavros Papadakis ◽  
Peggy Kanellou ◽  
Irene Mavroudi ◽  
Irene Fragiadaki ◽  
...  
Keyword(s):  
Natural History ◽  
Clonal Evolution ◽  
Clonal Expansion ◽  
Myeloid Malignancy ◽  
Clonal Hematopoiesis ◽  
Chronic Idiopathic Neutropenia ◽  
History Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: We have previously performed NGS analysis of genes that are recurrently mutated in myeloid malignancies in a cohort of patients with the diagnosis of chronic idiopathic neutropenia (CIN) according to previously reported criteria that largely overlap with those proposed for idiopathic cytopenia/neutropenia of undetermined significance (ICUS-N). We have thus estimated for the first time the frequency of clonal hematopoiesis in patients with CIN/ICUS-N (11.54%) and found that clonal CIN patients have a significantly higher risk of developing a myeloid neoplasm than those with no evidence of clonality (non-clonal). 1 However more longitudinal follow-up NGS studies are required for the tracking of clonal evolution and delineation of clonal CIN natural history. Aims: To conduct longitudinal follow-up NGS analyses in order to assess clonal evolution and associate the clinical significance of detected clonal aberrations with the risk of transforming to myeloid malignancy in clonal CIN clinical outcome. Methods: Genomic DNA was extracted from patients' BM or PB samples, sequencing libraries were prepared and subjected to targeted next generation sequencing (NGS) on an Ion S5 Prime Sequencer (Thermo Fisher Scientific) using a panel of 38 genes recurrently mutated in myeloid malignancies. Results: Follow-up analysis by NGS was performed in 16 clonal CIN patients (Figure 1). (Out of these 16 patients, follow-up NGS data has already been published in 9 patients, however additional timepoints were tested in 3 of them). 1 The median time between the first and subsequent analysis was 28.5 months (range 8-164 months). Ten of these patients carried the initial somatic mutations with only subtle changes in the size of clone as estimated by the variant allele frequency (VAF); the patients displayed absence of additional mutations and did not develop myeloid malignancy (Figure 1A-C, E-G, I, K, L, P). Two patients acquired a second mutation at follow-up. One of them still displayed stable disease course (Figure 1D) whereas the second eventually progressed to CMML (Figure 1H). The analysis also revealed that one patient lost the initial detected mutation at follow-up after 98 months (Figure 1J). Two patients who progressed to MDS/MPN and AML respectively, displayed a notable clonal expansion with additional mutations at the time of progression (Figure 1M and Figure 1N, respectively). Specifically, the patient who progressed to MDS/MPN acquired a mutation in JAK2 and ASXL1 while the patient who progressed to AML acquired the typical NPM1 p.L287fs mutation. The patient who developed MDS with multilineage dysplasia, carrying three mutations in DNMT3A and IDH1, showed a moderate increase in the VAF of these mutations at first follow-up (Figure 1O). The patient progressed to acute lymphoblastic leukemia (2 nd follow-up) with acquisition of additional truncating mutation in ETV6. Following treatment (3 rd and 4 th follow-up) mutation in ETV6 was lost, however the three mutations in DNMT3A and IDH1 persisted and their clone size increased. Conclusions: In the majority of patients tested for clonal evolution over time, most mutant clones appeared to be remarkably stable, with minimal VAF change, no acquisition of new molecular alterations and no progression to overt myeloid malignancy. Two CIN patients who transformed to a myeloid malignancy displayed a clonal expansion as was reflected by the increase of VAF and the development of additional mutations whereas in the third patient only a modest VAF increase was identified before malignant transformation. Finally in the patient bearing 4 mutations no progression to overt malignancy was observed after 12 months of follow-up. This ongoing study of sequential NGS analysis of CIN patients is anticipated to contribute to the better understanding and enrich further the knowledge on the natural history of this rare disease. References: Tsaknakis G, Galli A, Papadakis S et al. Incidence and Prognosis of Clonal Hematopoiesis in patients with Chronic Idiopathic Neutropenia. Blood. 2021 Jun 24:blood.2021010815. doi: 10.1182/blood.2021010815. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

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