Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

Abstract Background The objective of this study was to summarize clinical features and PRRT2 mutations of paediatric paroxysmal kinesigenic dyskinesia (PKD) patients and observe the tolerability and effects of morning draughts of oxcarbazepine. Methods Twenty patients diagnosed with PKD at Children’s Hospital of Fudan University between January 2011 and December 2015 were enrolled. These patients’ medical records were reviewed. Peripheral venous blood was obtained from all enrolled patients, and polymerase chain reaction (PCR) and Sanger sequencing were used to sequence proline-rich transmembrane protein 2 (PRRT2) gene mutations. Clinical features of PKD patients with and without PRRT2 mutations were compared. All enrolled patients were treated with morning draughts of oxcarbazepine (OXC). The starting dose was 5 mg/kg·d, and the dose was increased by 5 mg/kg·d each week until attacks stopped. Effective doses and adverse effects were recorded. Results For all enrolled patients, dyskinesia was triggered by sudden movement. Dyskinetic movement usually involved the limbs and was bilateral; the majority of enrolled patients exhibited both dystonia and choreoathetosis. We identified PRRT2 mutations in 5 patients, including 4 familial patients and 1 sporadic patient. All 20 patients took low doses of OXC (5–20 mg/kg·d) as draughts in the morning, and dyskinesia attacks stopped in 19 patients. Conclusions Paediatric PKD patients have various phenotypes. PRRT2 mutations are common in familial cases. OXC taken as morning draughts can be a treatment option for paediatric PKD patients.

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Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report

Experimental and Clinical Endocrinology & Diabetes Reports ◽

10.1055/s-0043-109433 ◽

2017 ◽

Vol 04 (01) ◽

pp. e10-e13

Author(s):

Lanrong Liu ◽

Hong Li ◽

Lixin Shi

Keyword(s):

Sanger Sequencing ◽

Venous Blood ◽

Gene Mutations ◽

Chinese Child ◽

Novel Mutations ◽

Chain Reaction ◽

Alström Syndrome ◽

Alstrom Syndrome ◽

Polymerase Chain ◽

Pathogenic Gene

Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing. Using polymerase chain reaction (PCR) amplified ALMS1 gene exons and splice sequence. The objective products were directly sequenced and analyzed. Pathogenic gene mutations were identified by contrast with the transcript (GRCh37/hg19). Results The Child had typical clinical features of Alstrom syndrome. Sequencing the ALMS1 gene confirmed 2 novel heterozygous non-sense mutations in exon8, c.4600C>T (p.Q1534X) and in exon16, c.11410C>T (p.R3804X), respectively, resulting in premature protein truncation. Conclusions 2 novel heterozygous non-sense mutations were identified in the Chinese Child with Alstrom syndrome, expanding the ALMS1 gene mutations causing Alstrom syndrome.

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Evaluation of Bivalirudin as the Primary Anticoagulant in Patients Receiving Extracorporeal Membrane Oxygenation for SARS-CoV-2–Associated Acute Respiratory Failure

Annals of Pharmacotherapy ◽

10.1177/10600280211036151 ◽

2021 ◽

pp. 106002802110361

Author(s):

Brittany D. Bissell ◽

Taylor Gabbard ◽

Erica A. Sheridan ◽

Maher A. Baz ◽

George A. Davis ◽

...

Keyword(s):

Respiratory Failure ◽

Extracorporeal Membrane Oxygenation ◽

Acute Respiratory Failure ◽

Retrospective Chart Review ◽

Venous Thromboembolic Event ◽

Membrane Oxygenation ◽

Published Report ◽

Starting Dose ◽

Venous Thromboembolic ◽

Polymerase Chain

Background Extracorporeal membrane oxygenation (ECMO) is a potential option for the management of severe acute respiratory failure secondary to COVID-19. Conflicting the use of this therapy is the known coagulopathy within COVID-19, leading to an incidence of venous thrombotic events of 25% to 49%. To date, limited guidance is available on optimal anticoagulation strategies in this population. Objective The purpose of this study was to evaluate the utilization of a pharmacist-driven bivalirudin dosing protocol for anticoagulation in the setting of ECMO for COVID-19–associated respiratory failure. Methods This was a single-center retrospective chart review over a 9-month period of patients receiving bivalirudin while on ECMO. All patients with acute respiratory failure requiring ECMO with a positive SARS-CoV-2 polymerase chain reaction were included. Bivalirudin was dosed via aPTT monitoring after a starting dose of 0.2 or 0.3 mg/kg/h. Results There were 33 patients included in this study, all receiving mechanical ventilation. The most common starting dose of bivalirudin was 0.2 mg/kg/h, with an average time to therapeutic range of 20 hours. Compared to previous reports, rates of bleeding were low at 15.1%, and 6.1% of patients developed a new venous thromboembolic event while on ECMO. ECMO survival was 51.5%, with an ICU mortality rate of 48.5%. Conclusion and Relevance In the first published report of its use within this population, bivalirudin was found to be a viable choice for anticoagulation in those patients on ECMO for severe respiratory failure secondary to COVID-19.

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Relationship between clinical features and gene mutations in non-small cell lung cancer with osteoblastic bone metastasis

Cancer Treatment and Research Communications ◽

10.1016/j.ctarc.2021.100440 ◽

2021 ◽

pp. 100440

Author(s):

Yutaka Takahara ◽

Keisuke Nakase ◽

Masafumi Nojiri ◽

Ryo Kato ◽

Shohei Shinomiya ◽

...

Keyword(s):

Lung Cancer ◽

Bone Metastasis ◽

Small Cell Lung Cancer ◽

Clinical Features ◽

Cell Lung Cancer ◽

Gene Mutations ◽

Small Cell ◽

Small Cell Lung

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Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

Disease Markers ◽

10.1155/2012/890214 ◽

2012 ◽

Vol 33 (3) ◽

pp. 113-118 ◽

Cited By ~ 9

Author(s):

Serbulent Yigit ◽

Ahmet Inanir ◽

Nevin Karakus ◽

Esra Kesici ◽

Nihan Bozkurt

Keyword(s):

Ankylosing Spondylitis ◽

Mefv Gene ◽

Gene Mutations ◽

Turkish Population ◽

M694v Mutation ◽

Significant Difference ◽

Mediterranean Fever ◽

Genomic Dnas ◽

Polymerase Chain ◽

Turkish Patients

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance ofMEFVgene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of theMEFVgene mutation carrier rates between AS patients and healthy controls (p= 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p= 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% ,p= 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest thatMEFVgene mutations are positively associated with a predisposition to develop AS.

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Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.85.5.1629 ◽

1988 ◽

Vol 85 (5) ◽

pp. 1629-1633 ◽

Cited By ~ 200

Author(s):

C. J. Farr ◽

R. K. Saiki ◽

H. A. Erlich ◽

F. McCormick ◽

C. J. Marshall

Keyword(s):

Polymerase Chain Reaction ◽

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Gene Mutations ◽

Oligonucleotide Probes ◽

Chain Reaction ◽

Ras Gene ◽

Polymerase Chain ◽

Acute Myeloid

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Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

Acta Endocrinologica ◽

10.1530/eje.1.01826 ◽

2005 ◽

Vol 152 (2) ◽

pp. 193-198 ◽

Cited By ~ 35

Author(s):

Carina Rodrigues ◽

Paula Jorge ◽

José Pires Soares ◽

Isaura Santos ◽

Regina Salomão ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Mutation Screening ◽

Gene Mutations ◽

Human Thyroid ◽

Thyroid Peroxidase ◽

Molecular Testing ◽

Missense Mutations ◽

Human Thyroid Peroxidase ◽

Iodide Organification Defect ◽

Organification Defect

Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1–17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. Results: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T > C (S131P), 1274A > G (N425S) and 2512T > A (C838S), as well as the predictable splice mutation 2748G > A (Q916Q/spl?). The undocumented polymorphism 180-47A > C was also detected. Conclusion: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.

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