scholarly journals DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xingjian Zhong ◽  
Siying Cui ◽  
Lina Liu ◽  
Yuxia Yang ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Treatment Method ◽  
Single Centre ◽  
Muscular Disease ◽  
History Of ◽  
Dmd Gene ◽  
Treatment Expectation ◽  
Dependent Probe ◽  
Short Tandem

Abstract Objective DMD/BMD prenatal diagnosis for 931 foetuses. Background DMD is the most common fatal X-linked recessive muscular disease. There is no effective clinical treatment method at present. Accurate gene diagnosis and prenatal diagnosis technology are important ways for early detection, early prevention and early treatment. Methods A total of 931 prenatal diagnoses were performed for pregnant women with a definite family history of DMD or a history of DMD childbirth between 2005 and 2019. This report may be considered the largest DMD prenatal diagnosis report in a single centre worldwide. Multiple ligation-dependent probe amplification (MLPA) and next-generation sequencing were used in combination. Techniques and short tandem repeat (STR) linkage analysis were used to determine the location of the DMD gene mutation in the pregnant woman and then to detect the DMD gene in the foetuses. Results There were 872 families in our study. Among all 931 foetuses, 20.73% (193/931) were males expected to develop DMD and 16.33% (152/931) were female carriers. In addition, gonadal mosaicism was observed in 5 mothers, and gene recombination was identified in three foetuses. The results of the prenatal diagnosis were consistent with the results of the CPK analysis, and the results of the prenatal diagnosis were 100% accurate. Conclusions MLPA and Sanger sequencing, when combined with STR linkage analyses, can provide an accurate and rapid prenatal diagnosis. Due to the high de novo rate, prenatal diagnosis and genetic counselling should be given great attention.

scholarly journals Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation

Medicine ◽  
2017 ◽  
Vol 96 (50) ◽  
pp. e8814 ◽  
Author(s):  
Tao Li ◽  
Zhao-jing Zhang ◽  
Xin Ma ◽  
Xue Lv ◽  
Hai Xiao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Mutation ◽  
De Novo ◽  
Chinese Family ◽  
Dmd Gene

scholarly journals Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan Wang ◽  
Yuhan Chen ◽  
San Mei Wang ◽  
Xin Liu ◽  
Ya Nan Gu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sanger Sequencing ◽  
De Novo ◽  
Novel Mutation ◽  
Neuromuscular Disorders ◽  
Genetic Diagnosis ◽  
Dystrophin Gene ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Dmd Gene

Abstracts Background Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed the best method for prenatal diagnosis and genetic counseling of X-linked familial disorders. Methods We investigated all variants of the whole dystrophin gene using multiple DNA samples isolated from the affected family and identified two variants of the DMD gene in a sick boy and two female carriers by targeted next generation sequencing (TNGS), Sanger sequencing, and haplotype analysis. Results We identified the hemizygous mutation c.6794delG (p.G2265Efs*6) of DMD in the sick boy, which was inherited from his mother. Unexpectedly, a novel heterozygous mutation c.6796delA (p.I2266Ffs*5) of the same gene, which was considered to be a de novo variant, was detected from his younger sister instead of his mother by Sanger sequencing. However, further NGS analysis of the mother and her amniotic fluid samples revealed that the mother carried a low-level mosaic c.6796delA mutation. Conclusions We reported two different mutations of the DMD gene in two siblings, including the novel mutation c.6796delA (p.I2266Ffs*5) inherited from the asymptomatic mosaic-carrier mother. This finding has enriched the knowledge of the pathogenesis of DMD. If no mutation is detected in obligate carriers, the administration of intricate STR/NGS/Sanger analysis will provide new ideas on the prenatal diagnosis of DMD.

Single-centre first experience with everolimus and CSA for de novo heart transplant recipients

2005 ◽  
Vol 53 (S 3) ◽  
Author(s):  
H Lehmkuhl ◽  
M Dandel ◽  
C Knosalla ◽  
O Grauhan ◽  
M Jurmann ◽  
...  
Keyword(s):  
Heart Transplant ◽  
De Novo ◽  
Transplant Recipients ◽  
Single Centre ◽  
Heart Transplant Recipients

Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification

2009 ◽  
Vol 31 (6) ◽  
pp. 600-604
Author(s):  
Qian WANG ◽  
Chun-Lian JIN ◽  
Chang-Kun LIN ◽  
Wan-Ting CUI ◽  
Hong-Wei MA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Dependent Probe

scholarly journals 64 Use of sirolimus-coated balloon in De novo lesions; mid-term follow-up from a single-centre registry

2021 ◽  
Author(s):  
Bhagya Harindi Loku Waduge ◽  
Harkaran Kalkat ◽  
Ameenathul Mazaya Fawzy ◽  
Abdullah Saif ◽  
Sampath Athukorala ◽  
...  
Keyword(s):  
De Novo ◽  
Single Centre

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Prenatal diagnosis of a lethal defect: What next? History of first family in perinatal hospice

2021 ◽  
pp. 1-2
Author(s):  
Aleksandra Korzeniewska-Eksterowicz ◽  
Joanna Kozinska ◽  
Konrad Kozinski ◽  
Urszula Dryja
Keyword(s):  
Prenatal Diagnosis ◽  
History Of ◽  
Perinatal Hospice

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

scholarly journals A single-centre, retrospective study of the incidence of invasive fungal infections during 85 years of autopsy service in Brazil

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kátia Cristina Dantas ◽  
Thais Mauad ◽  
Carmen D. Saldiva de André ◽  
Ana Luiza Bierrenbach ◽  
Paulo Hilário Nascimento Saldiva
Keyword(s):  
Retrospective Study ◽  
Essential Role ◽  
Fungal Infections ◽  
Invasive Fungal Infections ◽  
Single Centre ◽  
Historical Trends ◽  
Aids Pandemic ◽  
History Of ◽  
Frequent Infection ◽  
Over Time

AbstractAutopsy continues to play an essential role in monitoring opportunistic fungal infections. However, few studies have analysed the historical trends of fungal infections in autopsies. Here, we analyse available data on fungal infections obtained from autopsy reports during 85 years of autopsies performed by the largest autopsy service in Brazil. All invasive fungal infections presented in autopsy reports between 1930 and 2015 were included. Of the 158,404 autopsy reports analysed, 1096 involved invasive fungal infections. In general, paracoccidioidomycosis (24%) was the most frequent infection, followed by candidiasis (18%), pneumocystosis (11.7%), cryptococcosis (11%), aspergillosis (11%) and histoplasmosis (3.8%). Paracoccidioidomycosis decreased after the 1950s, whereas opportunistic fungal infections increased steadily after the 1980s during the peak of the AIDS pandemic. The lung was the most frequently affected organ (73%). Disseminated infection was present in 64.5% of cases. In 26% of the 513 cases for which clinical charts were available for review, the diagnosis of opportunistic fungal infections was performed only at autopsy. Our unique 85-year history of autopsies showed a transition from endemic to opportunistic fungal infections in São Paulo, Brazil, reflecting increased urbanization, the appearance of novel diseases, such as AIDS in the 1980s, and advances in medical care over time.

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