Molecular Diagnostic Techniques Research Articles

Utility of in-house and commercial PCR assay in diagnosis of Covid-19 associated mucormycoss in an emergency setting in a tertiary care center.

Introduction. Invasive mucormycosis (IM) is a potentially fatal infection caused by fungi of the order Mucorales. Histopathology, culture, and radiology are the mainstays of diagnosis, but they are not sufficiently sensitive, resulting in delayed diagnosis and intervention. Recent studies have shown that PCR-based techniques can be a promising way to diagnose IM.Hypothesis/Gap Statement. Early diagnosis of fungal infections using molecular diagnostic techniques can improve patient outcomes, especially in invasive mucormycosis.Aim. The aim of this study was to evaluate the utility of our in-house mould-specific real time PCR assay (qPCR) in comparison with the commercially available real time PCR (MucorGenius PCR), for the early diagnosis of mucormycosis in tissue samples from patients with suspicion of invasive mucormycosis (IM). This in-house assay can detect and distinguish three clinically relevant mould species, e.g. Aspergillus spp., Mucorales and Fusarium spp. in a single reaction with only one pair of primers, without the need for sequencing.Methodology. We enrolled 313 tissue samples from 193 patients with suspected IM in this prospective study. All cases were classified using EORTC/MSGERC guidelines. All samples were tested using traditional methods, in-house qPCR, and MucorGenius PCR.Results. Using direct microscopy as a gold standard, the overall sensitivity and specificity of in-house qPCR for detection of IM was 92.46% and 80% respectively, while that of the MucorGenius PCR was 66.67% and 90% respectively. However, co-infection of IM and IA adversely affected the performance of MucorGenius PCR in detection of IM.The in-house PCR detected Aspergillus spp. in 14 cases and Fusarium spp. in 4 cases which showed clinical and radiological features of fungal sinusitis. The in-house qPCR also performed better in detecting possible cases of IM. This aids early diagnosis and appropriate treatment to improve patient outcomes.Conclusion. Because the in-house PCR is not only sensitive and specific, but also entirely based on SYBR Green for detection of targets, it is less expensive than probe-based assays and can be used on a regular basis for the diagnosis of IM in resource-constrained settings. It can be used to distinguish between mucormycosis and fungal sinusitis caused by Aspergillus and Fusarium in high-risk patients, as well as to accurately detect Mucorales in fungal co-infection cases.

Visual and rapid detection of escolar (Lepidocybium flavobrunneum) using loop mediated isothermal amplification in conjunction with a specific molecular beacon probe

Species adulteration has become a main reason for the unexpected exposure to escolar, which is often related with the gastrointestinal disease called keriorrhea. Sensitive and accurate identification of escolar is required to protect consumers from commercial and health frauds. The present study established a visual and rapid method for escolar detection using LAMP (loop-mediated isothermal amplification) in conjunction with a MB (molecular beacon) probe. The visual MB-LAMP assay demonstrated high specificity and superb sensitivity (1 pg DNA) for escolar and low to 0.1 % (w/w) simulated adulteration could be detected within 25 min. Additionally, method validation on commercial products highlighted the umbrella term of white tuna for escolar on Chinese market. All these results indicated that the MB-LAMP method is a useful tool for rapid, sensitive and convenient detection of escolar and can also be used as a point-of-care molecular diagnostic technique since it does not require the expensive equipment.

Reference Ranges and Gender Differences in Blood Parameter Establishment at Dental Institutions: A Prospective Study

Gender differences in haematological variables were shown to be considerable in the majority of these research; as such, determining this difference and estimating the population’s reference range are crucial. The goal of the current study was to establish a range of comparison for the general population as well as to evaluate the haematological variations in several blood parameters between males and females. MATERIAL AND METHODOLOGY: The research was organised on a total of 250 patients with 125 males (50%) and 125 females (50%) in the haematology laboratory of the institution. 20 µl of capillary blood obtained by puncturing the skin over a finger was introduced into 100 µl of diluent. The contents of diluent are sodium sulfate, sodium chloride, a buffering agent, EDTA, formaldehyde, 1pyridone-2-sulphur a with pH of the 6.2-7.6. RESULTS: The study shows that the mean values of Red blood cells, Haemoglobin, Haematocrit, Mean corpuscular volume and Mean corpuscular Haemoglobin were statistically substantially reduced in men compared to females (p < 0.001), and that the mean values of MCHC were considerably lower in females than in males (). PLT and PCT, two haematological markers, were marginally higher in females than in men, with statistically significant findings at p < 0.05. CONCLUSION: Compared to only reporting cell counts, the CBC provides a wealth of detailed information about every blood cell. Even if there are new molecular analysis-based diagnostic and prognostic techniques available today, it’s still crucial to recognize the significance of the tests that doctors have been prescribing for decades. Our research would contribute to the updating of current data on blood variables, their reference range, and gender variance at the regional level.

Smartphone-readable RPA-LFA for the high-sensitivity detection of Leishmania kDNA using nanophosphor reporters.

Early diagnosis of infectious diseases improves outcomes by enabling earlier delivery of effective treatment, and helps prevent further transmission by undiagnosed persons. We demonstrated a proof-of-concept assay combining isothermal amplification and lateral flow assay (LFA) for early diagnosis of cutaneous leishmaniasis, a vector-borne infectious disease that affects ca. 700,000 to 1.2 million people annually. Conventional molecular diagnostic techniques based on polymerase chain reaction (PCR) require complex apparatus for temperature cycling. Recombinase polymerase amplification (RPA) is an isothermal DNA amplification method that has shown promise for use in low-resource settings. Combined with lateral flow assay as the readout, RPA-LFA can be used as a point-of-care diagnostic tool with high sensitivity and specificity, but reagent costs can be problematic. In this work, we developed a highly-sensitive smartphone-based RPA-LFA for the detection of Leishmania panamensis DNA using blue-emitting [(Sr0.625Ba0.375)1.96Eu0.01Dy0.03]MgSi2O7 (SBMSO) persistent luminescent nanophosphors as LFA reporters. The greater detectability of nanophosphors allows the use of a reduced volume of RPA reagents, potentially reducing the cost of RPA-LFA. The limit of detection (LOD) of RPA with gold nanoparticle-based LFA readout is estimated at 1 parasite per reaction, but LOD can be 100-fold better, 0.01 parasites per reaction, for LFA based on SBMSO. This approach may be useful for sensitive and cost-effective point-of-care diagnosis and contribute to improved clinical and economic outcomes, especially in resource-limited settings.

Impact of Rapid Molecular Diagnostic Technique on Time to Optimal Antimicrobial Therapy and Hospital Outcomes in Pediatric Cancer Patients with Sepsis.

sepsis is a leading cause of morbidity and mortality in pediatric cancer patients. We sought to assess the impact of using rapid molecular diagnostic techniques on time to pathogen identification, early administration of targeted antimicrobial treatment, and hospital outcomes. This prospective study was conducted at the Egyptian National Cancer Institute (1/2018-1/2019) on pediatric cancer patients with suspected sepsis. The cohort was divided into two groups. In one group, blood samples were sent for rapid molecular detection [multiplex-Polymerase Chain Reaction (PCR)] and blood cultures (PCR-group). While only blood cultures were collected for the second group (BC-group). In the entire cohort (n=120), the most common bacteria identified on blood cultures was Escherichia Coli (n=33,27.5%) followed by Klebsiella (n=31,25.8%). Multidrug-resistant bacteria were identified in 63 patients (52.5%). The median turnaround time to initial results was 5 hours in PCR-group (n=60), and 120 hours in BC-group (n=60)(P<0.001). For PCR-group, agreement in pathogen identification between the rapid molecular detection kit (PCR) and blood cultures was noted in 56 patients (93.3%). While the remaining four patients had no bacterial growth on blood cultures. The empirical antibiotic treatment for the PCR-group was modified based on the result of the PCR test. Antibiotic shift, based on blood culture sensitivity results, was done in 29 patients (48%) in PCR-group, compared to 45 patients (75%) in BC-group (P=0.003). Median sepsis episode duration [8-days vs. 10-days,P=0.361), and hospital mortality (42% vs. 50%, P=0.360) were slightly lower in PCR-group. However, this did not reach statistical significance. There was a substantial agreement in pathogen identification between the rapid molecular detection method (PCR) and blood culture results. PCR had a much shorter turnaround time, which allows for earlier start of optimal antimicrobial treatment, and might potentially improve hospital outcomes, which in turn will reduce associated health care costs.

An Overview of the Emergence of Plant Pathogen 'Candidatus Liberibacter solanacearum' in Europe.

In this paper, a comprehensive overview of the 'Candidatus Liberibacter solanacearum' presence in Europe was provided. The analyzed findings revealed that, since the first appearance of this pathogen in Finland and Spain in 2008, it has spread to 13 new European countries. Therefore, 'Ca. L. solanacearum' has spread very quickly across the European continent, as evident from the emergence of new host plants within the Apiaceae, Urticaceae, and Polygonaceae families, as well as new haplotypes of this pathogen. Thus far, 5 of the 15 'Ca. L. solanacearum' haplotypes determined across the globe have been confirmed in Europe (haplotypes C, D, E, U, and H). Fully competent 'Ca. L. solanacearum' vectors include Bactericera cockerelli, Trioza apicalis, and B. trigonica; however, only T. apicalis and B. trigonica are presently established in Europe and are very important for plants from the Apiaceae family in particular. Moreover, psyllid species such as B. tremblayi, T. urticae, and T. anthrisci have also been confirmed positive for 'Ca. L. solanacearum'. Constant monitoring of its spread in the field (in both symptomatic and asymptomatic plants), use of sensitive molecular diagnostic techniques, and application of timely management strategies are, therefore, of utmost importance for the control of this destructive pathogen.

Heart failure in children and adolescents: an update on diagnostic approaches and management.

Cardiac failure is a clinical syndrome that may develop in children owing to cardiac dysfunction or underlying structural heart diseases. Considering the differences in diagnostic and therapeutic approaches for pediatric heart failure (PHF) and adult heart failure, we have reviewed the current literature on PHF. Relevant studies were extracted from MEDLINE/PubMed, Google Scholar, and Clinical Trial Registries using the terms "pediatric heart failure" or "heart failure in children" and "management" or "decongestive therapy." Recent advances in diagnostic approaches, such as cardiac magnetic resonance, speckle-tracking echocardiography, tissue Doppler imaging, and molecular diagnostic techniques, have increased our under -standing of PHF. It is imperative that clinicians evaluate the interrelated factors responsible for the develop ment of PHF, including myocardial function, pulmonary and systemic blood flow, heart rhythm, valve function, and nutritional status. Although recent advances have demon strated the efficacy of many new drugs in adult heart failure trials, it cannot be concluded that these drugs will show similar efficacy in children, considering the heterogeneous nature of the underlying mechanisms and variable pharmacody-namics and pharmacokinetics. Therefore, the underlying pathophysiology of PHF and the mechanisms of action of different drugs should be considered when selecting appropriate therapies. Further trials are needed to establi sh the efficacy and safety of these drugs, and a combined mul-ti disciplinary strategy will help enhance PHF outcomes.

Bacilloscopy, Bacterial culture, and Spoligotyping of Mycobacterium bovis strains isolated from cattle in North Central Algeria

This study aimed to assess bovine tuberculosis-like cases in three slaughterhouses in North Central Algeria and to confirm these suspected cases using microscopic, bacteriological examination, and molecular biology technique. We highlighted the factors influencing the prevalence of the disease. Also, the genomic profiles of Mycobacterium tuberculosis complex (MTBC) strains isolated by Oligonucleotide typing technique (Spoligotyping) were determined. At the abattoir level, bovine carcasses were routinely inspected to detect visible abnormalities including suspicious lesions of bovine tuberculosis (BTB). At the laboratory level (Pasteur Institute, Algiers), Ziehl-Neelsen staining, bacterial culture, biochemical study (nitrate reduction test), and spoligotyping were performed to confirm suspected cases. On a total of 1300 bovine carcasses, 100 presented BTB-like cases (7.69%). Animals over 5 years of age were more affected compared to other age groups. Lesions were observed more often in females than in males and cattle of local breed were the most exposed to BTB-like cases (P&amp;lt;0.05). Bacilloscopy data were positive for 44 of the 100 suspected samples (44%) while bacteriology showed that 56 cultures were positive, while 35 were negative and 9 were contaminated. Molecular spoligotyping of 40 Mycobacterium strains samples showed 19 spoligotype profiles of M. bovis, of which 50% of profiles have been previously detected in the Mediterranean area and the three spoligotype patterns not previously reported were named SB2651, SB2652, SB2653 (by http:// www.Mbovis.org). Measures and means to prevent TB transmission among animals and to humans should be recommended, and more intensive investigations are required using both routine and molecular diagnostic techniques to understand and further explore MTBC.

Epidemiology of Molecular Probes in Xpert MTB/RIF Assay in AJK, Pakistan

Objective: This study aimed to detect rifampicin-resistant tuberculosis cases and assess the frequency of missing probes in different study populations in Azad Jammu and Kashmir (AJK), Pakistan. Methodology: The study was conducted at the State TB Reference Laboratory, District Headquarters Teaching Hospital, Mirpur, AJK. A total of 2,790 specimens collected between March 2016 to August 2019 were analyzed. Pulmonary TB (PTB) accounted for 94% of the cases, while 6% were classified as extra-pulmonary cases. All respiratory and non-respiratory samples underwent fluorescence smear microscopy (AFB) and a real-time PCR test (Xpert MTB/RIF assay) to detect Mycobacterium tuberculosis (MTB) and rifampicin resistance. Results: Among the 2,790 suspected MTB patients, 734 (26%) were confirmed to have MTB using the Xpert MTB/RIF assay, while 564 (20%) tested positive by fluorescence microscopy. Of the MTB-positive patients, 720 (98%) were diagnosed with pulmonary TB, and 14 (2%) had extra-pulmonary TB. Rifampicin resistance (RR) was detected in 66 (9%) cases, with 97% of the resistant cases being pulmonary and 3% extra-pulmonary. The most frequently missing probe was E (Codon 529-533), accounting for 34% of the cases, followed by probe D (Codon 523-529) at 26%. The least frequently missing probe was C (Codon 523-529), observed in 3% of the cases. Probe B (Codon 512-518) was missing in 15.4% of cases, while probe A (Codon 518-523) was missing in 9.4% of cases. Conclusion: The utilization of molecular diagnostic techniques, such as the Xpert MTB/RIF assay, enables rapid identification of MTB and detection of rifampicin resistance. This study provides valuable baseline data on the prevalence of 81 bp mutations in the rpoB gene, highlighting the need for further evaluation of mutation patterns in AJK.

Precision Oncology in Gastrointestinal Stromal Tumors

GIST (gastrointestinal stromal tumors) represent 20% of sarcomatous tumors and 1-2% of primary gastrointestinal cancers. They have an excellent prognosis when localized and resectable, though their prognosis is poor in the metastatic setting, with limited options after the second line until recently. Four lines are now standard in KIT-mutated GIST and one in PDGFRA-mutated GIST. An exponential growth of new treatments is expected in this era of molecular diagnostic techniques and systematic sequencing. Currently, the main challenge remains the emergence of resistance linked to secondary mutations caused by selective pressure induced by TKIs. Repeating biopsies to tailor treatments might be a step in the right direction, and liquid biopsies at progression may offer a non-invasive alternative. New molecules with wider KIT inhibition are under investigation and could change the catalog and the sequence of existing treatments. Combination therapies may also be an approach to overcome current resistance mechanisms. Here, we review the current epidemiology and biology of GIST and discuss future management options, with an emphasis on genome-oriented therapies.

Advances in the application of molecular diagnostic techniques for the detection of infectious disease pathogens (Review).

Infectious diseases are a major global cause of morbidity and mortality, seriously affecting public health and socioeconomic stability. Since infectious diseases can be caused by a wide variety of pathogens with similar clinical manifestations and symptoms that are difficult to accurately distinguish, selecting the appropriate diagnostic techniques for the rapid identification of pathogens is crucial for clinical disease diagnosis and public health management. However, traditional diagnostic techniques have low detection rates, long detection times and limited automation, which means that they do not meet the requirements for rapid diagnosis. Recent years have seen continuous developments in molecular detection technology, which has a higher sensitivity and specificity, shorter detection time and increased automation, and performs an important role in the early and rapid detection of infectious disease pathogens. The present study summarizes recent progress in molecular diagnostic technologies such as PCR, isothermal amplification, gene chips and high‑throughput sequencing for the detection of infectious disease pathogens, and compares the technical principles, advantages and disadvantages, applicability and costs of these diagnostic techniques.

Papillary Thyroid Carcinoma: A Narrative Review on the Most Important Genetic and Epigenetic Alterations

Abstract: Papillary Thyroid Carcinoma (PTC) is the most common subtype of thyroid cancer that is the most prevalent one in the endocrine system. According to worldwide reports, its prevalence rate has been increasing in recent decades. The Discovery of DNA sequencing methods and molecular diagnostic techniques provides an insight into the understanding of PTC molecular biology and as well as in thyroidology, which opens a new perspective in finding molecular markers. Aligning cytological diagnostic methods with molecular behavior studies creates promising tools for better decision-making strategies for preoperative conditions to distinguish between benign from malignant thyroid nodules in challenging cases and limit unnecessary surgeries. Extensive studies have been performed on identifying the genes involved in PTC development and their prognosis. Currently, clinical and pathological features of the tumour (such as size, extrathyroid and lymph node invasion, and capsular invasion) are used to predict the prognosis of papillary thyroid cancer. In this review, we tried to summarize fundamental signaling pathways affecting PTC and the most important genetic alterations, including point mutations in proto-oncogenes and chromosomal rearrangements, as well as up/down-regulation of certain micro RNAs (miRNA) as an epigenetic change. Briefly, some of the most commonly altered genes in PTC are BRAF, RAS, RET, PAX8, PPARγ, and miRNAs like mir-146b, mir-221, mir-222, and mir-181b.

Diagnosis of Anaplasma marginale in cattle at the Iowa State University veterinary diagnostic laboratory 2003–2021

Anaplasma marginale is a blood-borne rickettsia-like organism that infects cattle erythrocytes and causes anaplasmosis. This study reviews diagnostic data of all A. marginale diagnostics performed from 2003 to August 2021 in the Iowa State Veterinary Diagnostic Laboratory. Typically, the referring veterinarian's initial tentative diagnosis was based on presenting clinical signs or necropsy findings. Confirmatory testing at the ISU-VDL consisted of light microscopy evaluation of stained blood smears or molecular diagnostic procedures. A total of 94 cases were submitted with tissue samples from deceased animals, of which 79 were from Iowa and 15 were from other states. The most typical gross lesions were widespread yellow adipose tissue and splenomegaly. Typical histopathological lesions included marked bile stasis and hemosiderin-laden macrophages in the liver and spleen, respectively. Starting in 2013, when PCR was implemented to confirm cases of anaplasmosis, 315/1125 (28%) were positive to A. marginale, and 810 were negative, using a cut-off of 35.0 Ct. The average (±SD) of the positive PCR Ct was 19.5 (±6.0), and the first and third quartiles were 14.9 and 23.4. Most cases occurred between August and November, peaking in September, whether from necropsies or positive blood samples by PCR. The most common tick observed in Iowa, Dermacentor variabilis, is likely the main vector for transmission. Further surveys should be conducted to estimate seroprevalence by geographical location, the density of cattle populations, distribution of known vectors according to season, and strains of A. marginale.

Molecular detection of Mycoplasma spp. from camel’s milk

The dromedary camels are essential because of their multiple uses for transport, wool, meat, and milk production. Camel’s milk is considered exceptional nutrition, so it uses for therapeutic and high nutrition. Mastitis may affect camel’s milk production, cause significant economic loss, and is associated with zoonotic disease. The study aimed to detect the prevalence of Mycoplasma spp. especially M. bovis in camel’s milk using the polymerase chain reaction (PCR) method as a primary molecular diagnostic technique. Fifty milk samples were collected from she camels suffering from subclinical mastitis in Iraq. The result of the current study declared that 26.66% of the camel’s milk samples were positive for Mycoplasma. In contrast, the prevalence rate of Mycoplasma (M.) bovis in all the samples was 61.53%. The study concludes that Mycoplasma and especially M. bovis are considered one of the bacteria that cause subclinical mastitis in camels, and using the PCR method is regarded as a more rapid, simple, and current for detecting the Mycoplasma bacteria.

Accurately Detecting Trace‐Level Infectious Agents by an Electro‐Enhanced Graphene Transistor

AbstractFor epidemic prevention and control, molecular diagnostic techniques such as field‐effect transistor (FET) biosensors is developed for rapid screening of infectious agents, including Mycobacterium tuberculosis, SARS‐CoV‐2, rhinovirus, and others. They obtain results within a few minutes but exhibit diminished sensitivity (&lt;75%) in unprocessed biological samples due to insufficient recognition of low‐abundance analytes. Here, an electro‐enhanced strategy is developed for the precise detection of trace‐level infectious agents by liquid‐gate graphene field‐effect transistors (LG‐GFETs). The applied gate bias preconcentrates analytes electrostatically at the sensing interface, contributing to a 10‐fold signal enhancement and a limit of detection down to 5 × 10−16 g mL−1 MPT64 protein in serum. Of 402 participants, sensitivity in tuberculosis, COVID‐19 and human rhinovirus assays reached 97.3% (181 of 186), and specificity is 98.6% (213 of 216) with a response time of &lt;60 s. This study solves a long‐standing dilemma that response speed and result accuracy of molecular diagnostics undergo trade‐offs in unprocessed biological samples, holding unique promise in high‐quality and population‐wide screening of infectious diseases.

Re-emergence of Ebola virus disease in Uganda: Should Southeast Asia countries be worried?

An outbreak of Ebola virus disease (EVD) (Sudan virus) was first reported in the Republic of Uganda on September 20, 2022. As of November 17, 2022, 151 confirmed cases have been reported, including 55 deaths (with a case fatality rate among confirmed cases of 39%).During the EVD outbreak in 2013–2016, international travel played a significant role in the spread of the disease across national borders. During that time, several tasks requiring improvement were identified in the World Health Organization (WHO) Southeast Asia Region (SEAR), including inadequate risk communication and risk assessment, data management gaps for surveillance purposes, inadequate capacity in molecular diagnostic techniques, lack of adequate planning for a surge of cases, and inadequate isolation rooms.It is therefore recommended that all countries of the WHO SEAR revisit their level of Ebola preparedness and address existing gaps. The emergence and rapid global spread of coronavirus disease 2019 (COVID-19) have reiterated that the world has become a global village. This was confirmed by the spread of the monkeypox virus with cases reported in the WHO SEAR. Therefore, given the weak health infrastructure in the region, complacency could wreak havoc on the healthcare system if another epidemic emerges without an adequate level of preparedness.

Candida spp. DNA Extraction in the Age of Molecular Diagnosis.

The standard procedure for the detection of candidemia is blood culture, a method that might require 3-5 days for a positive result. Compared with culturing, molecular diagnosis techniques can provide faster diagnosis. The current paper aimed to present the main strengths and constraints of current molecular techniques for Candida spp. DNA extraction, analyzing their efficiency from a time, price, and ease of usage point of view. A comprehensive search was conducted using the PubMed NIH database for peer-reviewed full-text articles published before October 2022. The studies provided adequate data on the diagnosis of the infection with the Candida spp. DNA extraction is a relevant step in yielding pure qualitative DNA to be amplified in molecular diagnostic techniques. The most used fungal DNA extraction strategies are: mechanical (bead beating, ultrasonication, steel-bullet beating), enzymatic (proteinase K, lysozyme, lyticase), and chemical extraction (formic acid, liquid nitrogen, ammonium chloride). More clinical studies are needed to formulate adequate guidelines for fungal DNA extraction as the current paper highlighted discrepancies in the reported outcome.

Role of Molecular diagnostic technique , improving management and hygiene in Control of Subclinical Mastitis in diary Cattles

Sub clinical mastitis is a common disease caused by lack of good management and biosecurity of dairy cattle which cause expensive losses due to decrease milk production effect on the quality efficiency of milk losses in livestock production. the study designed to review the researcher's study to detect important strategies controlling of subclinical mastitis resulting from environmental &amp; contagious pathogens such as E.coli, k.pneumonia, proteus spp.,Enterobacter spp., Staphylococcus aureus , Streptococcus agalactia and mycoplasma pyogenes, also other microorganism in dairy cow. A wide range of genetic diagnostic methods can be using for investigation of mastitis such as RT-PCR and MPCR methods.Further accurate improving hygiene and improve management considerable for controlling of the disease in dairy cattle they are commitment of hygiene procedure as milking, animal condition and floor that incorporated management strategies. Regard to dry period of cattle the usage of antibiotic treatment , supplements foods ,optimization of animal body condition ,scientific management of milk procedure and ventilation are considered important factor to control of bovine mastitis. on the other hand,this review provides the role using advance diagnostic technologies of this disease. and can provide safeguard of dairy animals as well as improving hygiene as a good controlling of mastitis pathogens..

Newly outbreak of Nipah virus: epidemiology, symptoms, transmission, diagnostic testing, treatment, and global health concern

Newly outbreak of Nipah virus: epidemiology, symptoms, transmission, diagnostic testing, treatment, and global health concern

Advances in the field of genetics and difficulties in the diagnosis of di george syndrome.

IntroductionThe spectacular progress of the last decade in the field of genetics is allowing a new development of medicine and the ability to make a better diagnosis. A great example of this is the diagnosis of chromosome 22q11 deletion, which occurs in 1:4000 live births.ObjectivesThis case wants to illustrate the difficulties in the diagnosis, despite technological advances.MethodsExhaustive review of the literatureResultsThis is a 38-year-old male patient diagnosed with chromosome 22q11 deletion in adulthood.Family history of medical problems: mother with genetic diagnosis of chromosome 22q11 deletion, in adulthood, after the diagnosis of her own son.Personal history of medical problems:- Psychiatry: he has been followed up intermittently in psychology since he was 6 years old, due to cognitive difficulties and behavioral alterations. He has had several hospital admissions in psychiatry during adolescence for behavioral disorders and intellectual disability, with possible psychotic symptoms. In treatment with antiepileptics and antipsychotics.- Cardiology: aortic aneurysm and bicuspid aortic valve were detected. The patient underwent surgery in 2018.- Genetics: he is diagnosed with chromosome 22q11 deletion in 2019. This is an inherited mutation of maternal origin that is detected later.- Rheumatology: seropositive rheumatoid arthritis, non-erosive.- Rehabilitation: treatment to improve psychomotor skills, from 6-12 years of age.It is important to emphasize that the diagnosis was made at the age of 35 years, after a more deep study which had been carried out after the debut of the cardiac pathology. In addition, it is very striking that the diagnosis of his mother was made later than the one of the patient himself.Currently, the patient presents serious difficulties in respecting the rules of coexistence at home and in understanding social norms, so that he has not been able to integrate in any environment and remains isolated at home. Serious behavioral alterations with tendency to physical and verbal heteroaggressiveness, difficulty in accepting limits and sexualized and uninhibited behaviors.Clinical judgment: chromosome 22q11 deletion.ConclusionsEarly diagnosis is essential to be able to treat and, above all, prevent the possible complications that this syndrome may present. However, diagnosis is sometimes very complex, despite advances in molecular diagnostic techniques. Therefore, an integrative approach is very valuable, looking at the individual as a whole and not only by systems or medical subspecialties. In addition, it would be very interesting to establish a means of communication between specialties. Finally, it would be a real step forward to integrate all the medical information of each person in a single medical record, an apparently simple aspect, but so far from being possible.Disclosure of InterestNone Declared