Objectives:
Multifocal fibrosclerosis is a rare disorder causing progressive fibrosis of multiple organ systems. Existing data on the disease show that there are multiple manifestations of the ...disease, with different outcomes. However, quantitative data are scarce, prompting the need for our investigation.
Method:
A comprehensive systematic review was performed from inception to November 16, 2022, with the restriction of English language, not including review articles. Article screening and extraction was performed independently, and shortlisted articles were assessed for bias. Analysis was performed using SPSS Version 25 (IBM® SPSS® Statistics; Chicago, IL, USA). Data were presented as frequencies and percentages, with a confidence interval of 95%.
Result:
This review included 134 patients, with 78 (58.2%) males. Mean age was 53.6 years and included two pediatric patients. The most common comorbidity was diabetes (9.7%). Prevalent presenting symptoms included pain (47.8%) and swelling (35.1%). A mean of 2.51 organs or anatomical sites was affected, retroperitoneum (64.2%) being most affected. The pancreas (30.0%) and digestive system (47.0%) were the organs/organ systems most affected. Patients had favorable outcomes in 79.1% of cases, 87.3% had no relapse, and 91.8% of patients survived the condition.
Conclusion:
The findings in this study provide a quantitative measurement of the demographics, presentations, organ manifestations, and outcomes of multifocal fibrosclerosis. We found the disease to be prevalent in males in Japan or the United States, with the abdomen and its organs being commonly involved.
Microorganisms with antimicrobial resistance (AMR) are prevalent among humans and animals, and also found in the environment. Though organisms with AMR can spread to humans via food from animal ...sources, the burden of AMR in food-producing animals remains largely unknown. Thus, we assessed the resistance pattern among Escherichia coli isolated from chicken cecum samples and explored issues contributing to AMR in animals in the Dhulikhel Municipality of Nepal. We conducted a mixed-methods study, comprising a cross-sectional quantitative component, with collection of chicken cecal samples from slaughter houses/shops. In addition, a descriptive qualitative component was undertaken, with a focus group discussion and key informant interviews among stakeholders involved in animal husbandry. Of the 190 chicken cecum samples collected, 170 (89%) were subjected to culture and drug sensitivity testing, of which E. coli was isolated from 159 (94%) samples. Of the 159 isolates, 113 (71%) had resistance to ≥3 antimicrobial class. Resistance to tetracycline (86%) and ciprofloxacin (66%) were most prevalent. Overuse of antimicrobials, easy availability of antimicrobials, and lack of awareness among farmers about AMR were major issues contributing to AMR. The high prevalence of resistance among E. coli in chicken cecal samples calls for rational use of antimicrobials, educating farmers, and multi-sectoral coordination.
Evidence-based decision-making to combat antimicrobial resistance (AMR) mandates a well-built community-based surveillance system for assessing resistance patterns among commensals and pathogenic ...organisms. As there is no such surveillance system in Nepal, we attempted to describe the antimicrobial resistance pattern in E. coli isolated from the fecal samples of apparently healthy individuals in Dhulikhel municipality and also explored the local drivers of AMR. We used a mixed-method design with a cross-sectional quantitative component and a descriptive qualitative component, with focus group discussion and key informant interviews as the data collection method. Fecal samples were collected from 424 individuals randomly selected for the study. E. coli was isolated from 85.9% of human fecal samples, of which 14% were resistant to ≥3 class of antimicrobials (multidrug resistant). Of the 368 isolates, resistance to ampicillin (40.0%), tetracycline (20.7%) and cefotaxime (15.5%) were most prevalent. The major drivers of AMR were: lack of awareness of AMR, weak regulations on sales of antimicrobials, poor adherence to prescribed medications, and incomplete dosage due to financial constraints. These findings indicate the need for strict implementation of a national drug act to limit the over-the-counter sales of antimicrobials. Additionally, awareness campaigns with a multimedia mix are essential for educating people on AMR.
The synthesis of Ag-nanoparticle-decorated CdMoO4 and its photocatalytic activity towards hydrogen generation under sunlight has been demonstrated. The CdMoO4 samples were synthesized by a simple ...hydrothermal approach in which Ag nanoparticles were in situ decorated on the surface of CdMoO4. A morphological study showed that 5 nm spherical Ag nanoparticles were homogeneously distributed on the surface of CdMoO4 particles. The UV/DRS spectra show that the band gap of CdMoO4 was narrowed by the incorporation of a small amount of Ag nanoparticles. The surface plasmonic effect of Ag shows broad absorption in the visible region. The enhanced photocatalytic hydrogen production activities of all the samples were evaluated by using methanol as a sacrificial reagent in water under natural sunlight conditions. The results suggest that the rate of photocatalytic hydrogen production using CdMoO4 can be significantly improved by loading 2% Ag nanoparticles: i.e. 2465 μmol h−1 g−1 for a 15 mg catalyst. The strong excitation of surface plasmon resonance (SPR) absorption by the Ag nanoparticles was found in the Ag-loaded samples. In this system, the role of Ag nanoparticles on the surface of CdMoO4 has been discussed. In particular, the SPR effect is responsible for higher hydrogen evolution under natural sunlight because of broad absorption in the visible region. The current study could provide new insights for designing metal/semiconductor interface systems to harvest solar light for solar fuel generation.
The synthesis of Ag-nanoparticle-decorated CdMoO
and its photocatalytic activity towards hydrogen generation under sunlight has been demonstrated. The CdMoO
samples were synthesized by a simple ...hydrothermal approach in which Ag nanoparticles were
decorated on the surface of CdMoO
. A morphological study showed that 5 nm spherical Ag nanoparticles were homogeneously distributed on the surface of CdMoO
particles. The UV/DRS spectra show that the band gap of CdMoO
was narrowed by the incorporation of a small amount of Ag nanoparticles. The surface plasmonic effect of Ag shows broad absorption in the visible region. The enhanced photocatalytic hydrogen production activities of all the samples were evaluated by using methanol as a sacrificial reagent in water under natural sunlight conditions. The results suggest that the rate of photocatalytic hydrogen production using CdMoO
can be significantly improved by loading 2% Ag nanoparticles:
2465 μmol h
g
for a 15 mg catalyst. The strong excitation of surface plasmon resonance (SPR) absorption by the Ag nanoparticles was found in the Ag-loaded samples. In this system, the role of Ag nanoparticles on the surface of CdMoO
has been discussed. In particular, the SPR effect is responsible for higher hydrogen evolution under natural sunlight because of broad absorption in the visible region. The current study could provide new insights for designing metal/semiconductor interface systems to harvest solar light for solar fuel generation.
Introduction: Among all chromosomes (46) in the human genome, particular significance has been given to chromosomes 13, 18, 21, X and Y. This is primarily because of aneuploidy in these chromosomes ...that result in viable pregnancies with congenital defects. As a result, standardised methods like Rapid Aneuploidy Test (RAT) for detection is the need of the hour in addition to Non-Invasive Prenatal Testing (NIPT) and Chromosomal Microarray (CMA). Aim: To compare and analyse the diagnostic utility of Fluorescent In-Situ Hybridization (FISH) and Quantitative fluorescent Polymerase Chain Reaction (QF-PCR) in aneuploidy of detection. Materials and Methods: In the present observational study, 120 pregnant women suspected of having fetal aneuploidies were subjected to amniocentesis and Chorionic Villus Samplling (CVS). Following DNA extraction, FISH and QF-PCR were carried out using pre-designed chromosomal markers and specific FISH probes for trisomy of 13, 18 and 21. Results: Of 120, 5 prenatal samples showed Trisomy (T) 13, 18 and 21 chromosomes, amounting to a frequency of 4.2% (5/120). These results were concordant by both tests i.e FISH and QFPCR trisomy 18 and 21 detected. Four amniotic fluid samples, two each respectively (4/108; 3.7%), and one Chorionic Villus Sampling (CVS) (1/12; 8.3%) were tested positive for trisomy of chromosome 13. Conclusion: From the present study, it can be concluded that QF-PCR is a better technique for detection of aneuploidies. However, both these techniques, together called RAT of Invasive Prenatal Screening (IPS) should be performed for errorless results before termination of pregnancy (TOP).
Introduction: The β-thalassaemia is one of the haemoglobinopathies related to genetic disorders. It occurs due to mutation in β-gene of autosome 11. In India, it affects 1-7% of couples annually. ...Reports are available in few states of India about β-thalassaemia affected families. But much data is not reported in families of various states of India. Further, the incidence of case index and mutations in parents and siblings of these families are limited. Aim: To analyse patient case index and mutation analysis of parents and siblings {Children and Chorionic villus sampling/ Amniotic fluid (CVS/AF) cases} of 30 families of India and to develop preventive measures. Materials and Methods: A total of 101 referral cases of 30 families filled consent forms and then blood was drawn in a sterilised tube from each case (71) for the study. The AF/ CVS (30) were also included. The red cell markers like Mean Corpuscular Volume (MCV), Red Cell Distribution Width (RDW) etc., biochemical, case types and molecular analysis were done using respective techniques for red cell indices, Haemoglobin (Hb) types and mutation analysis. Results: We report a number of 30 referral families (101 cases) having parents (60), children (11) and CVS/AF samples (30) for their β-thalassaemia, as these traits also cause β-gene mutations. Out of these 101 cases, 88 (87%) cases were positive for this disease. Only 74 (73%) were detected carriers. The case analysis in present cohort indicated parents (56.5%), CVS/AF (19.8%) and proband (children) (10.9%) were found affected. All children moreover, were affected and did, not have CVS/AF samples. The mutations analysis, indicated c.92+G>C (50/94; 53.19%) was maximum and parents contributed 62% followed by siblings (38%) with CVS/AF (22%) and proband (16%) in present cohort. Thus, in the present study, mutation analysis further pointed out that parents transmit these to the offsprings in the subsequent generation who would be the targets of thalassaemia disease. Conclusion: The present study, points out that mutations transfer from parents to offspring follows the laws of inheritance. Case index study showed parents constituted high percent of cases followed by CVS/AF and children/probands, comparable to mutation analysis in present cohort. Hence, carrier parents must undergo counseling and genetic testing to confirm their genetic disorder to limit the burden of the disease.
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In ...compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing. It also contained upper levels of HbE with altered Hb and red cell indices showing asymptomatic to symptomatic state requiring blood transfusion periodically. The parents and Chorionic Villus Sampling (CVS) were HbE and β-thalassaemia traits only. Such case is rare in Western India and we recommend this family for genetic counseling and genetic testing before they want reproductive choices in future for better management in a society.
Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown.
In ...this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types.
The purified extracted DNA of each referral patient was subjected to Sanger gene sequencing using Codon Code Analyzer and Mutation Surveyor and next-generation sequencing (NGS) methods with Ion torrent software, after appropriate care.
The data revealed that 35 cases were positive for BRCA1 or BRCA2 (35/79: 44.3%). BRCA2 mutations were higher (52.4%) than BRCA1 mutations (47.6%). Five novel mutations detected in this study were p.pro163 frameshift, p.asn997 frameshift, p.ser148 frameshift and two splice site single-nucleotide polymorphisms (SNPs). Additionally, four nonsense and one in-frame deletion were identified, which all seemed to be pathogenic. Polymorphic SNPs contributed the highest percentage of mutations (72/82: 87.8%) and contributed to pathogenic, likely pathogenic, likely benign, benign and variant of unknown significance (VUS). Young age groups (20-60 years) had a high frequency of germline mutations (62/82;75.6%) in the Indian population.
This study suggested that polymorphic SNPs contributed a high percentage of mutations along with five novel types. Younger age groups are prone to having BC with a higher mutational rate. Furthermore, the SNPs detected in exons 10, 11 and 16 of BRCA1 and BRCA2 were higher than those in other exons 2, 3 and 9 polymorphic sites in two germline genes. These may be contributory for BC although missense types are known to be susceptible for cancer depending on the type of amino acid replaced in the protein and associated with pathologic events. Accordingly, appropriate counseling and treatment may be suggested.
β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending ...upon many factors.
The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management.
Seventy-five referral cases for β-thalassemia were analyzed for various β-thalassemia traits, heterozygosity, and homozygosity conditions. Blood phenotypic parameters using cell counter and capillary electrophoresis were investigated. Analyses of eight common mutations of thalassemia in India were carried out using polymerase chain reaction-amplification refractory mutation system, end point polymerase chain reaction, and DNA sequencing methods.
Of these (75) referral cases from East-Western Indian region, 68 were positive for β-thalassemia (90.67%). The majority of case types were of β-thalassemia minor (49, 65.33%), followed by HbE traits (6, 8.0%) and β-thalassemia major, including heterozygous and homozygous (5, 6.66%; 4, 5.33%) types and then HbE homozygous (2, 2.66%), as well as one each of the HbE/β-thalassemia and HbD/β-thalassemia (1, 1.34%) combination. Mutation analysis also revealed that the highest frequency of mutation was c.92+5G>C (41, 60.29%) followed by deletion 619bp (9, 13.23%) and c.79G>A (8, 11.76%) in our study group. Five cases (nos. 24, 27, 33, 58, and 71) exhibited coinheritance between β
/β
(2), β
/β D (1), and c.124_127delTTCT/β
or β
(2) affecting the Rajasthani and Gujarati populations in our study of the Western region of India.
We strongly recommend these Western populations for genetic screening before adopting reproductive technologies and interracial marital relations.
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