scholarly journals Male infertility: biomolecular aspects

2014 ◽  
Vol 5 (6) ◽  
pp. 449-456 ◽  
Author(s):  
Damiano Pizzol ◽  
Alessandro Bertoldo ◽  
Carlo Foresta

AbstractMale infertility is a problem that faces increasing interest, and the continuous development of assisted reproduction techniques solicits attempts to identify a precise diagnosis, in particular for idiopathic infertile couples and those undergoing assisted reproductive technique cycles. To date, diagnosis of male infertility is commonly based on standard semen analysis, but in many cases, this is not enough to detect any sperm abnormality. A better understanding of biomolecular issues and mechanism of damaged spermatogenesis and the refinement of the molecular techniques for sperm evaluation and selection are important advances that can lead to the optimization of diagnostic and therapeutic management of male and couple infertility. Faced with a growing number of new proposed techniques and diagnostic tests, it is fundamental to know which tests are already routinely used in the clinical practice and those that are likely to be used in the near future. This review focuses on the main molecular diagnostic techniques for male infertility and on newly developed methods that will probably be part of routine sperm analysis in the near future.

2021 ◽  
Vol 16 (4) ◽  
pp. 271-288
Author(s):  
Ian Gassiep ◽  
Delaney Burnard ◽  
Michelle J Bauer ◽  
Robert E Norton ◽  
Patrick N Harris

Melioidosis is an emerging infectious disease with an estimated global burden of 4.64 million disability-adjusted life years per year. A major determinant related to poor disease outcomes is delay to diagnosis due to the fact that identification of the causative agent Burkholderia pseudomallei may be challenging. Over the last 25 years, advances in molecular diagnostic techniques have resulted in the potential for rapid and accurate organism detection and identification direct from clinical samples. While these methods are not yet routine in clinical practice, laboratory diagnosis of infectious diseases is transitioning to culture-independent techniques. This review article aims to evaluate molecular methods for melioidosis diagnosis direct from clinical samples and discuss current and future utility and limitations.


2016 ◽  
Author(s):  
S. Ambrós ◽  
F. Martínez ◽  
P. Ivars ◽  
C. Hernández ◽  
F. de la Iglesia ◽  
...  

AbstractTomato is known to be a natural and experimental reservoir host for many plant viruses. In the last few years a new tobamovirus species, Tomato mottle mosaic virus (ToMMV), has been described infecting tomato and pepper plants in several countries worldwide. Upon observation of symptoms in tomato plants growing in a greenhouse in Valencia, Spain, we aimed to ascertain the etiology of the disease. Using standard molecular techniques, we first detected a positive sense single-stranded RNA virus as the probable causal agent. Next, we amplified, cloned and sequenced a ~3 kb fragment of its RNA genome which allowed us to identify the virus as a new ToMMV isolate. Through extensive assays on distinct plant species, we validated Koch’s postulates and investigated the host range of the ToMMV isolate. Several plant species were locally and/or systemically infected by the virus, some of which had not been previously reported as ToMMV hosts despite they are commonly used in research greenhouses. Finally, two reliable molecular diagnostic techniques were developed and used to assess the presence of ToMMV in different plants species. We discuss the possibility that, given the high sequence homology between ToMMV and Tomato mosaic virus, the former may have been mistakenly diagnosed as the latter by serological methods.


2020 ◽  
Vol 10 (1) ◽  
pp. 69-71
Author(s):  
M.M. Lawan ◽  
And M.I. Shago

The emergence of resistance to all antimalarial drugs in clinical use is now making it necessary to discover the markers responsible for the resistance. The principal aim of this research is the use of molecular diagnostic techniques to Determine the epidemiology of malaria parasites. Thirty blood samples were analyzed by microscopy and molecular techniques to monitor the relative efficiency in malaria diagnosis. Molecular analysis revealed 28 out of 30 samples as positive for malaria while Microscopic analysis revealed 27out of 30 samples as positive malaria parasite. The molecular analysis was particularly useful to unveil parasites presence in infections not detectable by blood smear analysis. Keywords: Molecular Diagnostic Techniques, Epidemiology, Malaria Parasites


2020 ◽  
Vol 6 (4) ◽  
pp. 310
Author(s):  
Monise Fazolin Petrucelli ◽  
Mariana Heinzen de Abreu ◽  
Bruna Aline Michelotto Cantelli ◽  
Gabriela Gonzalez Segura ◽  
Felipe Garcia Nishimura ◽  
...  

Dermatophytoses affect about 25% of the world population, and the filamentous fungus Trichophyton rubrum is the main causative agent of this group of diseases. Dermatomycoses are caused by pathogenic fungi that generally trigger superficial infections and that feed on keratinized substrates such as skin, hair, and nails. However, there are an increasing number of reports describing dermatophytes that invade deep layers such as the dermis and hypodermis and that can cause deep infections in diabetic and immunocompromised patients, as well as in individuals with immunodeficiency. Despite the high incidence and importance of dermatophytes in clinical mycology, the diagnosis of this type of infection is not always accurate. The conventional methods most commonly used for mycological diagnosis are based on the identification of microbiological and biochemical features. However, in view of the limitations of these conventional methods, molecular diagnostic techniques are increasingly being used because of their higher sensitivity, specificity and rapidity and have become more accessible. The most widely used molecular techniques are conventional PCR, quantitative PCR, multiplex PCR, nested, PCR, PCR-RFLP, and PCR-ELISA. Another promising technique for the identification of microorganisms is the analysis of protein profiles by MALDI-TOF MS. Molecular techniques are promising but it is necessary to improve the quality and availability of the information in genomic and proteomic databases in order to streamline the use of bioinformatics in the identification of dermatophytes of clinical interest.


Author(s):  
Tanushri Mukherjee ◽  
Soma Mukherjee ◽  
Rajat Dutta

<p>Pediatric tumors are challenging in the context of best diagnosis, treatment, and prognosis. For tumors which have a genetic association or a cancer predisposition syndrome, the prognosis depends on accurate diagnosis. The application of molecular genetics to pediatric tumors has resulted in better diagnostic and prognostic factors for patient management. Molecular diagnostic techniques, such as reverse transcription polymerase chain reaction and fluorescence in situ hybridization (FISH), have become important tests for childhood tumors. Targeted therapies are aimed at specific translocations which are detected by FISH. Molecular techniques help in monitoring of minimal residual disease in childhood tumors.</p>


2002 ◽  
Vol 15 (1) ◽  
pp. 125-144 ◽  
Author(s):  
Cees M. Verduin ◽  
Cees Hol ◽  
André Fleer ◽  
Hans van Dijk ◽  
Alex van Belkum

SUMMARY Moraxella catarrhalis (formerly known as Branhamella catarrhalis) has emerged as a significant bacterial pathogen of humans over the past two decades. During this period, microbiological and molecular diagnostic techniques have been developed and improved for M. catarrhalis, allowing the adequate determination and taxonomic positioning of this pathogen. Over the same period, studies have revealed its involvement in respiratory (e.g., sinusitis, otitis media, bronchitis, and pneumonia) and ocular infections in children and in laryngitis, bronchitis, and pneumonia in adults. The development of (molecular) epidemiological tools has enabled the national and international distribution of M. catarrhalis strains to be established, and has allowed the monitoring of nosocomial infections and the dynamics of carriage. Indeed, such monitoring has revealed an increasing number of Β-lactamase-positive M. catarrhalis isolates (now well above 90%), underscoring the pathogenic potential of this organism. Although a number of putative M. catarrhalis virulence factors have been identified and described in detail, their relationship to actual bacterial adhesion, invasion, complement resistance, etc. (and ultimately their role in infection and immunity), has been established in a only few cases. In the past 10 years, various animal models for the study of M. catarrhalis pathogenicity have been described, although not all of these models are equally suitable for the study of human infection. Techniques involving the molecular manipulation of M. catarrhalis genes and antigens are also advancing our knowledge of the host response to and pathogenesis of this bacterial species in humans, as well as providing insights into possible vaccine candidates. This review aims to outline our current knowledge of M. catarrhalis, an organism that has evolved from an emerging to a well-established human pathogen.


2021 ◽  
Vol 14 (9) ◽  
pp. e245037
Author(s):  
Murali Krishna ◽  
Santosh Kumar ◽  
Kalpesh Mahesh Parmar ◽  
Venkatesh Dhana Sekaran

Renal cell cancer (RCC) is incidentally detected on imaging in 50%–60% of cases. Among the RCCs, clear cell variant is most common and classically seen as heterogenous enhancing lesion on CT imaging. Hypoenhancing mass presents a diagnostic dilemma with differential diagnosis being urothelial carcinoma, fat poor angiomyolipoma, oncocytoma or rarer variants of RCC. Such cases require further evaluation in form of urine cytology or newer molecular diagnostic techniques. Here, we present a case of renal mass with minimal enhancement on CT scan and imaging features suggestive of upper tract urothelial cancer. Final histopathology revealed the mass to be chromophobe variant of renal cell carcinoma.


2017 ◽  
Vol 30 (3) ◽  
pp. 597-613 ◽  
Author(s):  
Marlene L. Durand

SUMMARY Endophthalmitis is a severe eye infection that may result in permanent loss of useful vision in the affected eye. Most cases are exogenous and occur as a complication of cataract surgery, an intravitreal injection, or penetrating ocular trauma. Endogenous endophthalmitis results from hematogenous seeding of the eye by bacteria or fungi, but bacteremia or fungemia may be transient and patients may present without symptoms of systemic infection. Nearly all endophthalmitis patients present with decreased vision, and some also have eye pain. Eye examination usually reveals a hypopyon and intraocular inflammation. Diagnosis is clinical, supported by cultures of the vitreous and/or aqueous or by blood cultures in some endogenous cases. Molecular diagnostic techniques have been used in research laboratories for pathogen identification in endophthalmitis and offer the possibility of rapid diagnosis, including in culture-negative cases. Intravitreal injection of antibiotics is the most important component of treatment; some cases also benefit from surgical debridement of the vitreous by a vitrectomy. The visual outcome depends partly on the pathogen: coagulase-negative staphylococcal endophthalmitis has a better prognosis than does streptococcal endophthalmitis, for example. Endophthalmitis is a medical emergency, and prompt diagnosis and treatment are essential for saving vision.


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