Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare genetic disorder with a very high mortality rate. The typical symptoms of the disease during pregnancy are oligohydramnios, ...anhydramnios, and nearly all affected fetuses die after birth or have a stillbirth in late gestation, which can adversely increase maternal risks.
Oligohydramnios/anhydramnios can make both amniocentesis for diagnostic testing and morphological evaluation via ultrasound more difficult. In cases of oligohydramnios/anhydramnios suspicious for urinary tract anomalies, amnioinfusion is a meaningful technique that facilitates sampling of amniotic fluid for genetic diagnosis.
We report two cases of fetuses with anhydramnios and invisible urinary bladder. Clinical exome sequencing from amniotic fluid revealed a biparentally inherited homozygous pathogenic nonsense ACE variant c.2503G 〉 T p.Glu853Ter in proband 1 and a biparentally inherited homozygous pathogenic nonsense ACE variant c.2992C 〉 T p.Gln998Ter in proband 2. The prognosis was poor and the patients elected to terminate the pregnancies. Additional post-mortem histopathological examination from the renal tissue of the second fetus showed renal tubular hypoplasia.
To our knowledge for the first time, we describe the prenatal diagnosis of ARRTD in Vietnam, and highlight the benefit of detecting ACE variants associated with ARRTD in fetuses with oligohydramnios/anhydramnios through amnioinfusion and amniocentesis, which improves genotype-phenotype correlations and provides valuable information for reproductive counseling.
To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam.
All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) ...between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence
hybridization (FISH) on maternal blood.
We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097-0.139%) in this cohort.
We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV.
Non-traditional security (NTS) threats have a vast and profound impact on many aspects of economic, political, social, and many other areas, especially supply chain finance (SCF), particularly in ...countries like Vietnam, which potentially affects the economic efficiency of businesses' supply chain financial, thereby affecting the general economy of the country and the world. In order to prevent and minimize the negative impacts caused by NTS threats to SCF, this study was conducted to identify NTS threats affecting SCF in Vietnam, at the same time calculate the weight of the impact level and find out the cause and effect relationship between them. Solution strategies are also proposed and ranked, thereby serving as a reference basis for relevant parties to choose appropriate response solutions. Due to the multi-criteria nature of NTS threats, the multiple criteria decision-making (MCDM) method is used in combination with the Z-number concept and Fuzzy set theory to approach the problem of certainty and increase the accuracy of study. The NTS threats are first identified through a literature review and then validated for suitability using the DELPHI technique (DELPHI). Suitable threats will be determined by relationship, weighted by Decision Making Trial And Evaluation Laboratory (DEMATEL) method. Proposed strategies are ranked using the Technique for Order of Preference by Similarity to Ideal Solution (TOPSIS) method. The results indicate that there are 19 NTS factors affecting SCF in Vietnam, and the global economic downturn, pandemic and health crisis, financial crisis and cybersecurity risk are the four root cause factors with the most decisive influence. Businesses and concerns need to prioritize addressing these four threats because they not only have a strong impact but also entail many other threats. The two strategies considered to be the most effective are a sustainable practice and a risk-hedging strategy. Businesses, governments, and stakeholders also should pay attention to the macroeconomic environment, technology, and environment and build sustainable businesses, regularly monitoring economic fluctuations and creating plans to prevent risks.
Background
De novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and documented parental inheritance by mosaicism ...in these two disorders, albeit with limited data.
Methods
Clinical characteristics and diagnosis, including genetic tests of members of two families, were obtained from medical reports.
Results
The first family with Rett syndrome (RTT) presented with two offspring carrying FOXG1 c.460dup. Both affected RTT pregnancies did not show anomalies within the first trimester, preventing prenatal recognition at an early stage. The second family had two of three offspring confirmed with TUBA1A c.172G>A related to Tubulinopathy. Both young couples from the two families harbored none of the variants correlating to their children's conditions. Diagnosis of parental mosaics with higher rates of recurrence was reasonably determined, and genetic counseling played a major role in guiding and managing their subsequent pregnancies.
Conclusion
In genetic disorders with a high penetration of de novo variants, the risk of having a recurrent baby is an important topic to discuss with affected families. By examining variants that siblings share, clinical diagnosis can offer valuable information about the presence of mosaic inheritance. To effectively manage in the long term, adequate genetic counseling and strategic planning for future pregnancies should be emphasized to mitigate the risk of recurrent offspring.
Malnutrition is a common problem among hemodialysis patients that increases morbidity and mortality and decreases the quality of life. This study aimed to assess the prevalence of malnutrition and ...associated factors and survey the consumption of energy and several nutrients among hemodialysis patients. A prospective observational study with a cross-sectional design was conducted on 76 patients on hemodialysis therapy at Nguyen Tri Phuong Hospital, Ho Chi Minh City, Vietnam, for 2 months (from May to July 2022). Dialysis malnutrition score was used to determine patients' nutritional status. Data about their biochemical parameters were retrieved from records with the newest results. Among the 76 patients, 38 (50.0%) were female. The mean age of the patients was 55.0 ± 13.5 years. Based on the dialysis malnutrition score, 56 (73.7%) patients had mild to moderate malnutrition, while 2 (2.6%) had severe malnutrition. The average energy intake was 21.5 kcal/kg/day, with only 3.9% meeting the recommended intake. The average protein intake was 1.0 g/kg/day, and about 10.5% of participants complied with the recommended protein level. In addition, the majority of patients did not reach the recommendations for sodium (56.6%), potassium (88.2%), phosphate (75.0%), and calcium (82.9%). We found a significant association between patients' occupation (P < .05), dialysis vintage (P < .001), and malnutrition status. Malnutrition is widespread among Vietnamese hemodialysis patients, which necessitates regular assessment and monitoring. We recommend paying more attention to the nutritional status of patients who are unemployed, retired, or stopped working and those with ≥ 5 years of hemodialysis.
Drug-related problems (DRPs) are common in clinical practice and occur at all stages of the medication process. The major factor contributing to DRPs is prescription, although patients' poor ...adherence to treatment is also a significant factor. This study evaluated type 2 diabetes outpatients in a hospital in Vietnam for drug-related problems (DRPs) and related variables. A cross-sectional descriptive study was conducted on 495 outpatients who met the criteria and 157 people agreed to participate in the interview. Medication order review and medication adherence review were used to identify DRPs. The types of DRP were based on the Pharmaceutical Care Network Europe (PCNE) categories version 9.0. The identification and assessment DRPs were carried out by clinical pharmacists and get agreed upon by physicians who had not directly prescribed patients who participated in the study. A total of 762 DRPs were identified via prescribing review process, the average number of DRP on each prescription was 1.54±1.07, while 412 DRPs were determined through patient interviewing. The most frequent DRPs were "ADR (Adverse Drug Reaction) occurring" (68.8%). The main causes were "patient is unable to understand instructions properly" or "patient is not properly instructed", "patient stores insulin inappropriately", "patient decides to use unnecessary drugs" and "patient intentionally uses/takes less drug than prescribed or does not take the drug at all for whatever reason" which accounted for 65.0%, 41.4%, 38.2%, and 28.7%, respectively. From the prescribing review, the most observed DRPs were "Inappropriate drug according to guidelines/formulary" and "No or incomplete drug treatment in spite of existing indication", accounting for 45.0% and 42.9%, respectively. There was a significant association between age (OR 3.38, 95% CI: 1.01-11.30), duration of diabetes (OR 3.61, 95%CI: 1.11-11.74), presence of comorbidity (OR 5.31, 95%CI: 1.97-14.30), polypharmacy (OR: 2.95, 95%CI: 1.01-8.72) and DRPs. In patients, poor knowledge of antidiabetic agents was the main reason to lack adherence and occurring ADR (OR 2.73, 95%CI: 1.32-5.66, p = 0.007 and OR 2.49, 95%CI: 1.54-4.03, p = 0.001 respectively). DRPs occurred in the prescribing stage and relating to patient's behavior of drug administration was high. Clear identification of DRPs and the associated factors are essential for building the intervention process to improve effectiveness and safety in the treatment of type 2 diabetes mellitus patients.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The aim of this study was to investigate the effect of varicocele on DNA fragmentation index (DFI), zinc concentration and seminal parameters in infertile patients. In this prospective study, 179 men ...with at least 1‐year history of infertility and varicocele were examined for semen quality at Hanoi Medical University Hospital (HMUH), Hanoi, Vietnam. In addition, an inverse correlation between zinc concentration and the degree of sperm DNA fragmentation in patients with clinical varicocele was found. The difference in mean values of sperm DNA fragmentation index in patients with various grades of varicoceles can be neglected, whereas most patients with varicocele of grades II and III had DFI >30%. Varicocele is associated with high levels of DNA damage in spermatozoa and reduced zinc levels that correlate with different grades of disease. Therefore, DNA fragmentation index and zinc concentration can be used as essential additional diagnostic test for patients with clinical varicocele. A study should be conducted to evaluate the benefits of zinc supplementation to improve seminal parameters in patients with varicocele.
In this paper, we study the formation of optical bistability (OB) and optical multistability (OM) in a degenerate four-level atomic system by an external magnetic field that is excited by a probe ...laser field, a coupling laser field and a signal laser field. The coupling field can cause electromagnetically induced transparency (EIT) for the probe field in the atomic medium, while the signal field and/or external magnetic field can switch between single-EIT and two-EIT regimes. Based on these properties, OB and OM effects can be formed at two different frequency regions of the probe field (two channels). By adjusting the magnetic field or the intensity and the frequency of laser fields, the threshold intensity and the width of OB or OM can also be changed simply. The model can be useful for experimental observations and applications in modern photonic devices.
Human papillomavirus (HPV) infection in men is a serious issue because it is associated with genital warts, anogenital cancers, and HPV transmission to their sex partners. This study aimed to ...investigate the prevalence and genotypes of HPVs in Vietnamese male patients hospitalized with sexually transmitted infection (STI) symptoms between 2016 and 2020 by using polymerase chain reaction and reverse dot blot hybridization analysis. HPV DNA was detected in 191/941 (20.3%) penile cell samples. The HPV patient's mean age was 30.3 in the range of 16‐ and 69‐year‐old. The highest HPV prevalence (84.7%) was found in patients between 20‐ and 39‐year‐old. A total of 313 HPV genotypes were identified. The multiple‐infection rate was 42.9%. The most common high‐risk (HR)‐HPV genotypes were HPV‐16 (8.0%), HPV‐51 (7.7%), HPV‐52 (4.8%), HPV‐56 (4.2%), and HPV‐18 (3.8%). Furthermore, HPV‐11 and HPV‐6 genotypes were the two most common low‐risk (LR)‐HPV genotypes with the rate of 36.7% and 21.4%, respectively. Notably, HPV‐52 was found circulating in Vietnam for the first time. In conclusion, this study results showed that HPV prevalence in Vietnamese male patients was common and diverse. In addition, regarding public health and cancer prevention, the inclusion of the HPV vaccination into the national vaccination program for both men and women is recommended.
Highlights
This study reports the infection of HPVs in Vietnamese male patients hospitalized with STI symptoms was common and diverse. Regarding public health and cancer prevention, we recommend the use of HPV vaccination into the national vaccination program for both men and women.
To identify the efficacy and tolerability of Proteoglycan F in patients with primary knee OA.Design: A 24-week randomized, placebo-controlled, double-blind clinical trial with two arms: (1) ...Proteoglycan F (received 10 mg proteoglycan daily, for 24 weeks) and (2) control group (received placebo). Knee symptoms and joint cartilage status (evaluated by ultrasound and MRI of knee joints), quality of life, serum cytokine levels (IL-1β and TNF-α), and safety evaluation were measured before, during, and after the treatment.
After 24-week treatment, pain reduction (in the KOOS pain score) of at least 20% and at least 50% (NRS scale) compared to baseline in the PGF group was significantly higher than those in the control group. The PGF group had greater reductions in the total scores of subchondral bone marrow edema, and bone cocoon under cartilage on knee MRI (classification according to WORMs), which were −2.27 (-4.0; −0.51) and −1.77 (-3.08; −0.46), respectively (p < 0.05). The two groups had no statistically significant difference in knee ultrasound characteristics. After 4 weeks, 12, and 24 weeks compared to baseline, there was no statistically significant difference in levels of urea, creatinine, aspartate aminotransferase, and alanine aminotransferase within the group and between the two study groups.
Salmon cartilage PG with 10 mg per day has potential to improve pain symptoms and subchondral bone marrow edema and bone cocoon under cartilage lesions in primary knee OA. However, the efficacy of PGF should be viewed with caution, and future studies are needed for more specific evaluation.
