Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions

Establishing the correct diagnosis in newborns presenting with blisters and erosions is not always a straightforward process. Many different disease entities including acquired (i.e., infectious, immunobullous, traumatic) and inherited disorders have to be taken into consideration. Similarities in clinical appearance, colonization and/or superinfections of preexisting skin lesions, as well as the absence of late changes in the neonate often pose significant diagnostic challenges. In this paper we discuss by giving examples the process of making an accurate diagnosis of blistering skin diseases in the neonatal period on the basis of a diagnostic algorithm. In addition, we provide an overview of the rational use and the limitations of laboratory procedures such as microbial testing, routine light microscopy, immunofluorescence antigen mapping, transmission electron microscopy, and molecular genetic analysis.

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Effectiveness of the algorithm for detecting cases of recent HIV-1 infection in the Russian Federation

Infekcionnye bolezni ◽

10.20953/1729-9225-2021-2-37-50 ◽

2021 ◽

Vol 19 (2) ◽

pp. 37-50

Author(s):

A.V. Shlykova ◽

◽

D.E. Kireev ◽

I.A. Lapovok ◽

D.V. Saleeva ◽

...

Keyword(s):

Hiv Infection ◽

Sensitivity And Specificity ◽

Molecular Genetic ◽

Diagnostic Algorithm ◽

Molecular Genetic Analysis ◽

Accurate Identification ◽

Serological Tests ◽

Recent Infection ◽

Duration Of Infection ◽

Hiv 1

Objective. Accurate identification of recent HIV-1 infection cases will ensure a more effective and precise assessment of the dynamics of virus transmission, the time between infection and diagnosis, and the quality of screening and prevention programs. This study was undertaken to adjust the recent HIV-1 infection testing algorithm using a cohort of patients, in whom the time since infection was known. Materials and methods. We used blood plasma samples obtained from 264 HIV-infected patients with a known date of infection. All samples were analyzed using two serological assays aimed to differentiate between cases of recent and established HIV infection. Using the results of sequencing of the pol region, we calculated the proportion of variable positions in order to determine the duration of infection. To identify the cases of recent HIV infection, we evaluated different variants of a diagnostic algorithm that included a combination of serological tests, molecular genetic analysis of the viral genome, and other clinical and laboratory parameters. Results. The effectiveness of the DS-ELISA-HIV-AB-TERM (DS) assay for the detection of recent infection was higher than that of the Architect HIV Ag/Ab Combo assay (Abbott). The sensitivity and specificity of the DS assay were 94.4% and 96.7%, respectively. The sensitivity and specificity of the Abbott assay were 86.4% and 77,4%, respectively. The HIV-1 genome variability threshold of 0.33% allowed the differentiation between samples depending on the time since infection with a cut-off of 12 months: 82.1% of recent samples and 62.7% of established samples were correctly identified using this method. We analyzed the effectiveness of schemes of the algorithm for the detection of recent infection lasting no longer than 9 months. Conclusion. Our findings allow us to recommend the algorithm based on the Russian DS assay for the detection of recent HIV-1 cases in routine clinical practice. This algorithm will enable the detection of new HIV cases, thereby improving the disease control. Key words: HIV-1, HIV infection, genetic variability, time since infection, duration of infection, recent infection, early infection, seroconversion

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Isolation and Identification of Type F Bovine Enterovirus from Clinical Cattle with Diarrhoea

Viruses ◽

10.3390/v13112217 ◽

2021 ◽

Vol 13 (11) ◽

pp. 2217

Author(s):

Chengyuan Ji ◽

Yao Zhang ◽

Ruini Sun ◽

Jiale Ma ◽

Zihao Pan ◽

...

Keyword(s):

Molecular Genetic ◽

Growth Curves ◽

Gastrointestinal Diseases ◽

Molecular Genetic Analysis ◽

Epidemiological Surveillance ◽

Isolation And Identification ◽

Bovine Enterovirus ◽

Cytopathic Effects ◽

Transmission Electron ◽

Mdbk Cells

Recently, bovine enterovirus (BEV) has caused several respiratory and gastrointestinal diseases outbreaks in cattle. Monitoring the epidemiological and pathogenic characteristics of this virus is crucial to controlling its spread. We isolated a BEV strain with typical cytopathic effects from the faeces of cows with significant diarrhoeal symptoms in China and observed the viral particles within 20–30 nm through transmission electron microscopy. Then, we designated this strain as HB19-1 in this study. The multistep growth curves showed that the virus propagated well in the MDBK cells. Molecular genetic analysis of VP1 indicated that HB19-1 belonged to the BEV-F1 group. Although the challenged ICR mice did not exhibit typical disease symptoms in animal infection assay, we observed significant pathological damage in the lungs, intestines, and muscle tissues. In summary, we isolated a BEV strain HB19-1 causing severe diarrhoea in cattle and proposed reinforcing the epidemiological surveillance of this virus.

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A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2019-0010 ◽

2019 ◽

Vol 22 (1) ◽

pp. 95-98

Author(s):

P Karimzadeh ◽

S Parvizi Omran ◽

H Ghaedi ◽

MD Omrani

Keyword(s):

Neuromuscular Junctions ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Congenital Myasthenic Syndrome ◽

Inherited Disorders ◽

Direct Dna Sequencing ◽

Gene Segregation ◽

Electrophysiological Studies ◽

Novel Variant ◽

Myasthenic Syndrome

AbstractCongenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G>T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G>T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.

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SUN-159 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency in 1 Month Old Infant

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1375 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Deepa Mathew ◽

Phyllis Witzel Speiser ◽

Aristotle Panayiotopoulos ◽

Laura Pisani

Keyword(s):

Autosomal Recessive ◽

Pubertal Development ◽

Correct Diagnosis ◽

Molecular Genetic ◽

Disorders Of Sex Development ◽

Autosomal Recessive Disorder ◽

Hydroxysteroid Dehydrogenase ◽

Molecular Genetic Analysis ◽

Normal Serum ◽

Fetal Ultrasound

Abstract Background: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive disorder caused by mutations in HSD17B3 encoding the enzyme which converts androstenedione to testosterone. It is characterized in 46, XY males by incomplete virilization, including micropenis and hypospadias. Clinical Case: We report a 1 month old infant who presented with ambiguous genitalia. Prenatal non-invasive screening showed a Y chromosome, however, fetal ultrasound revealed female genitalia. The infant was born with micropenis (~1.4 cm in length) and proximal hypospadius, with enlarged labioscrotal folds and palpable gonads bilaterally. The urethral meatus had been relocated surgically to the glans. There was an apparent vaginal orifice with a normally positioned anus. Initial testing revealed a normal serum 17-OHP (90 ng/dl, n<200 ng/dl) and normal electrolytes. Abdominal US showed normal kidneys. Pelvic US demonstrated no Mullerian structures; gonads thought to be testes were identified in the labioscrotal folds. At 3 months of age, the infant underwent a 3 day HCG stimulation testing with a borderline testosterone response to 132 ng/dl, androstenedione 78 ng/dl and DHT 25 ng/dl. T/A ratio was unremarkable at 1.7 (n>0.8). Thus, hormonal testing was unsupportive of a testicular steroidogenic enzyme deficiency or androgen insensitivity syndrome. Karyotype was confirmed as 46, XY with microarray evidence of multiple regions of homozygosity. Genotyping with a 46, XY DSD panel (GeneDx) revealed a homozygous pathogenic variant c.608 C>T (p.A203V) in exon 9 of the HSD17B3 gene, consistent with a diagnosis of autosomal recessive 17-beta hydroxysteroid dehydrogenase 3 deficiency. Parents are of Arabic descent and are consanguineous. An older brother was also born with ambiguous genital and was later found to be homozygous for the same mutation. This mutation has been identified in the homozygous state in several unrelated affected patients. Previously published functional studies demonstrated loss of enzymatic activity with this missense mutation (1). Male gender was assigned at birth, and parents wish to continue male sex of rearing. Conclusion: Molecular genetic analysis utilizing a commercially available candidate gene panel for 46, XY disorders of sex development diagnosed 17 beta-HSD3 deficiency in this case where hormonal testing was not informative. Early and correct diagnosis is key in planning medical treatment to facilitate pubertal development. References: (1) Geissler et al., 1994 Nature Genetics 7(1): 34-9.

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Diagnostic algorithm for Raynaud’s phenomenon and vascular skin lesions in systemic lupus erythematosus

Lupus ◽

10.1177/0961203310374304 ◽

2010 ◽

Vol 19 (9) ◽

pp. 1087-1095 ◽

Cited By ~ 6

Author(s):

JG Richter ◽

O. Sander ◽

M. Schneider ◽

P. Klein-Weigel

Keyword(s):

Systemic Lupus Erythematosus ◽

Clinical Features ◽

Lupus Erythematosus ◽

Raynaud’S Phenomenon ◽

Correct Diagnosis ◽

Clinical Manifestations ◽

Diagnostic Algorithm ◽

Skin Lesions ◽

Raynaud's Phenomenon ◽

Systemic Lupus

Skin discolorations and skin lesions due to vascular pathologies are common clinical features in systemic lupus erythematosus. A variety of clinical manifestations such as Raynaud’s phenomenon, acrocyanosis, livedo patterns, erythematous or violaceous macules and papules or necrosis are triggered by heterogeneous pathophysiological mechanisms such as vasospasm, vasculitis or thromboembolism. A standardized macro- and microvascular assessment is necessary to establish the correct diagnosis. We describe and illustrate common clinical features of vascular skin manifestations in systemic lupus erythematosus and present a diagnostic algorithm. Lupus (2010) 19, 1087—1095.

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Practical and fundamental results of prenatal diagnostics in North-West Russia

Journal of obstetrics and women s diseases ◽

10.17816/jowd61354-60 ◽

2012 ◽

Vol 61 (3) ◽

pp. 54-60

Author(s):

Vladislav S Baranov ◽

Edvard K Aylamazyan

Keyword(s):

Muscular Atrophy ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Prenatal Diagnostics ◽

Inherited Disorders ◽

Chromosomal Disorders ◽

Tissue Samples ◽

North West ◽

Non Invasive ◽

Invasive Diagnostics

Organized 25th years ago laboratory was of the first relevant prenatal center in Russia. Originally elaborated methods for chromosome preparations from different embryonic tissue samples (chorionic & placenta villi, umbilical cord blood) and for molecular genetic analysis of common and most sever inherited disorders such as cystic fibrosis, haemophilia A and B, Deuchenn myodistrophy, spinal muscular atrophy, phenylketonuria, adreno-genital syndrome, myotonic dystrophy, Huntington chorea, Martin-Bell syndrome etc. as well as automatic programs for biochemical screening of embryonic marker proteins substantiated efficient prenatal diagnosis service launched in Saint-Petersburg and in North-West region of Russia. Altogether 14 000 invasive prenatal diagnostics were carried out so far with total 1029 fetuses with chromosomal (734) or genetic (295) disorders identified. Implication of QF-PCR method for detection of common chromosomal disorders, one-stop clinic algorithm, preimplantation diagnosis as well as non-invasive diagnostics of fetal sex and Rh-factor are currently at use in our prenatal diagnostics service. Array — CGH for submicroscopic rearrangements, non-invasive diagnostics of chromosomal and genetic disorders as well as implication of Genetic Form of Female Reproductive Health, elaborated in our laboratory for prevention of fetal and pregnancy complications are our close future

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Molecular Characterization and Genetic Diversity Study in F3 Population of Rice

Progressive Agriculture ◽

10.3329/pa.v20i1-2.16839 ◽

2013 ◽

Vol 20 (1-2) ◽

pp. 1-8

Author(s):

MM Rahman ◽

L Rahman ◽

SN Begum ◽

F Nur

Keyword(s):

Genetic Distance ◽

Gene Diversity ◽

Random Amplified Polymorphic Dna ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Polymorphic Loci ◽

Rice Genotypes ◽

High Level ◽

Genetic Diversity Study ◽

Diversity Study

Random Amplified Polymorphic DNA (RAPD) assay was initiated for molecular genetic analysis among 13 F3 rice lines and their parents. Four out of 15 decamer random primers were used to amplify genomic DNA and the primers yielded a total of 41 RAPD markers of which 37 were considered as polymorphic with a mean of 9.25 bands per primer. The percentage of polymorphic loci was 90.24. The highest percentage of polymorphic loci (14.63) and gene diversity (0.0714) was observed in 05-6 F3 line and the lowest polymorphic loci (0.00) and gene diversity (0.00) was found in 05-12 and 05-15 F3 lines. So, relatively high level of genetic variation was found in 05-6 F3 line and it was genetically more diverse compared to others. The average co-efficient of gene differentiation (GST) and gene flow (Nm) values across all the loci were 0.8689 and 0.0755, respectively. The UPGMA dendrogram based on the Neis genetic distance differentiated the rice genotypes into two main clusters: PNR-519, 05-19, 05-14, 05-12 and 05-17 grouped in cluster 1. On the other hand, Baradhan, 05-9, 05-13, 05-11, 05-5, 05-6, 05-1, 05-4, 05-15 and 05-25 were grouped in cluster 2. The highest genetic distance (0.586) was found between 05-4 and 05-17 F3 lines and they remain in different cluster.DOI: http://dx.doi.org/10.3329/pa.v20i1-2.16839 Progress. Agric. 20(1 & 2): 1 8, 2009

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Diagnosis and Management of Cardiomyopathies – A Focus on Genetics, Cardiac Magnetic Resonance and Clinical Features

European Cardiology Review ◽

10.15420/ecr.2011.7.3.225 ◽

2011 ◽

Vol 7 (3) ◽

pp. 225

Author(s):

Gianfranco Sinagra ◽

Michele Moretti ◽

Giancarlo Vitrella ◽

Marco Merlo ◽

Rossana Bussani ◽

...

Keyword(s):

Clinical Practice ◽

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Imaging Techniques ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Routine Clinical Practice ◽

Clinical Approach ◽

Diagnosis And Management ◽

Made In

In recent years, outstanding progress has been made in the diagnosis and treatment of cardiomyopathies. Genetics is emerging as a primary point in the diagnosis and management of these diseases. However, molecular genetic analyses are not yet included in routine clinical practice, mainly because of their elevated costs and execution time. A patient-based and patient-oriented clinical approach, coupled with new imaging techniques such as cardiac magnetic resonance, can be of great help in selecting patients for molecular genetic analysis and is crucial for a better characterisation of these diseases. This article will specifically address clinical, magnetic resonance and genetic aspects of the diagnosis and management of cardiomyopathies.

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