BACKGROUND

Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.

To determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.

We performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.

We found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.

Our analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.

BACKGROUND

Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.

To determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.

We performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.

We found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.

Our analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.

Human ; Mass Screening ; Mothers ; Nuchal Translucency Measurement ; Prenatal Diagnosis

Background: Speech sound disorders (SSD) refer to difficulties in perceiving, mentally representing, and/or articulating speech sounds. In 2018, the Tagalog Sentence Repetition Test (SRT) was developed due to the lack of a commercially available local assessment tool for children with suspected SSDs. The SRT had not been validated or piloted yet. Objectives: This study aimed to determine the SRT’s content validity (comprehensiveness, relevance, comprehensibility), ability to successfully elicit the target sounds, and logistical feasibility and flaws. Methodology: All procedures were conducted online. Three linguists evaluated the comprehensiveness of the sounds covered, while 31 Manila Tagalog-speaking children (7 to 21 years old) participated in pilot testing. Post-testing, the children answered a questionnaire to evaluate their familiarity with the sentences’ words (relevance) and the comprehensibility of the test instructions. Content validity was assessed by computing the Content Validity Index (CVI). To see how well the test elicits the target sounds, the number of participants who produced each sound were computed. Results: A CVI of 1.0 was obtained for all aspects of content validity. All targets were produced by almost all the participants, except for the final glottal stop (18/31, 58%). The test administration seemed feasible as participants from all age groups successfully executed the task. Conclusion Although the SRT exhibited good content validity, some sentences need to be revised to address sound production issues noted during the pilot. This new version should be re-piloted to 7 to 11-year-olds in-person and via teleconferencing. A manual should also be created to facilitate administration.
Speech Disorders ; Speech Production Measurement

PURPOSE: Scar assessment tools can be utilized during the post-operative period to monitor scar progress. The primary aim of this systematic review was to evaluate current subjective scar assessment scales utilized in orthopaedic surgery. The secondary aim was to identify determinants of patients' satisfaction with their scars and evaluate current measurement scales. METHODS: The preferred reporting items for systematic reviews and meta-analyses checklist was followed. Electronic databases, currently registered studies, conference proceedings and the reference lists of included studies were searched. There were no constraints based on language or publication status. A narrative synthesis provided a description and evaluation of scales utilized in orthopaedic surgery. Determinants of patient satisfaction were identified along with the scales used to measure satisfaction. RESULTS: A total of 6059 records were screened in the initial search. Twenty-six articles satisfied the inclusion criteria, assessing 7130 patients. In the literature, six validated subjective scar scales were identified, including the Vancouver scar scale, patient and observer scar assessment scale, Manchester scar scale, Stony Brook scar evaluation scale, visual analogue scale, and Hollander wound evaluation scale. Studies utilizing these scales to evaluate scars following orthopaedic procedures did so successfully. These were total hip arthroplasty, total knee arthroplasty, and limb reconstruction. The scales demonstrated satisfactory validity. Functional outcomes such as restoration of movement ranked among patients' highest concerns. Scar cosmesis was found to be amongst patients' lowest priorities. CONCLUSIONS Subjective scar assessment scales identified in the literature were not designed specifically for orthopaedic surgery. However, these were able to appropriately assess scars in the studies identified in this review. Current evidence suggests the effect of scar cosmesis on patient satisfaction with orthopaedic procedures is limited.
Humans ; Cicatrix ; Orthopedic Procedures/adverse effects* ; Patient Satisfaction ; Pain Measurement

Chronic Painful Temporomandibular Disorders (TMD) are challenging to diagnose and manage due to their complexity and lack of understanding of brain mechanism. In the past few decades' neural mechanisms of pain regulation and perception have been clarified by neuroimaging research. Advances in the neuroimaging have bridged the gap between brain activity and the subjective experience of pain. Neuroimaging has also made strides toward separating the neural mechanisms underlying the chronic painful TMD. Recently, Artificial Intelligence (AI) is transforming various sectors by automating tasks that previously required humans' intelligence to complete. AI has started to contribute to the recognition, assessment, and understanding of painful TMD. The application of AI and neuroimaging in understanding the pathophysiology and diagnosis of chronic painful TMD are still in its early stages. The objective of the present review is to identify the contemporary neuroimaging approaches such as structural, functional, and molecular techniques that have been used to investigate the brain of chronic painful TMD individuals. Furthermore, this review guides practitioners on relevant aspects of AI and how AI and neuroimaging methods can revolutionize our understanding on the mechanisms of painful TMD and aid in both diagnosis and management to enhance patient outcomes.
Humans ; Facial Pain/diagnostic imaging* ; Artificial Intelligence ; Temporomandibular Joint Disorders/diagnostic imaging* ; Neuroimaging/methods* ; Pain Measurement/methods*

OBJECTIVE: To observe the effect of modified acupuncture at sphenopalatine ganglion for allergic rhinitis (AR). METHODS: A total of 80 patients with AR were randomly divided into an observation group and a control group, 40 cases in each group. In the observation group, modified acupuncture at sphenopalatine ganglion was given, 30 min each time, 2 times a week and with an interval of 3-4 days. In the control group, budesonide nasal spray was given. Both groups were treated for 4 weeks. The total nasal symptom score (TNSS) and total non-nasal symptom score (TNNSS) were observed before treatment, after first treatment, after last treatment and 4 weeks after treatment; the scores of visual analogue scale (VAS) and rhinoconjunctivitis quality of life questionnaire (RQLQ) were observed before treatment, after last treatment and 4 weeks after treatment; the recurrence condition was evaluated 4 weeks after treatment; the clinical efficacy was evaluated after last treatment in the two groups. RESULTS: Compared with before treatment, the total scores and each score of TNSS, TNNSS scores after first treatment, after last treatment and 4 weeks after treatment were decreased in both groups (P<0.01, P<0.05). After first treatment, the total score, stuffy nose score, itchy nose score of TNSS and TNNSS score in the observation group were lower than the control group (P<0.01, P<0.05). After last treatment, the total score, stuffy nose score, itchy nose score of TNSS in the observation group were lower than the control group (P<0.01). Four weeks after treatment, the total score and each score of TNSS, TNNSS score in the observation group were lower than the control group (P<0.01, P<0.05). Compared with before treatment, the scores of VAS and RQLQ after last treatment and 4 weeks after treatment were decreased in both groups (P<0.01), and those in the observation group were lower than the control group (P<0.01). The recurrence rate was 13.5% (5/37) in the observation group, which was lower than 44.8% (13/29) in the control group (P<0.01). The total effective rate was 92.5% (37/40) in the observation group, which was higher than 72.5% (29/40) in the control group (P<0.05). CONCLUSION Modified acupuncture at sphenopalatine ganglion could effectively improve symptoms and quality of life in patients with AR, and the recurrence rate is lower.
Humans ; Quality of Life ; Acupuncture Therapy ; Rhinitis, Allergic/therapy* ; Pain Measurement

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness. METHODS: Sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT ≥ 3.0 mm at 11 ~ 13⁺⁶ gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0 ~ ＜3.5 mm (n = 33) and ≥3.5 mm groups (n = 29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test. RESULTS: The median age of the pregnant women was 29 years old (22 ~ 41 years old), the median thickness of NT was 3.4 mm (3.0 ~ 9.1 mm), and the median gestational age at the detection was 13⁺⁴ weeks (11⁺⁵ ~ 13⁺⁶ weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT ≥ 3.5 mm group was higher than that for the 3.0 ≤ NT < 3.5 mm group [3.03% (1/33) vs. 41.38% (12/29), χ² = 13.698, P < 0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS (χ² = 0.028, P > 0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, including SOS1: c.3542C>T (p.A1181V) and c.3817C>G (p.L1273V), COL2A1: c.436C>T (p.P146S) and c.3700G>A (p.D1234N), LZTR1: c.1496T>C (p.V499A), and BRAF: c.64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS. CONCLUSION NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Pregnancy ; Humans ; Female ; Adult ; Infant ; Nuchal Translucency Measurement/methods* ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Aneuploidy ; Fetus/diagnostic imaging* ; Ultrasonography, Prenatal ; DNA Copy Number Variations ; Transcription Factors

BACKGROUND: Filiform needle acupuncture (FNA), the most classical and widely applied acupuncture method based on traditional Chinese medicine theory, has shown a promising effect in the treatment of allergic rhinitis (AR). OBJECTIVE: To evaluate the efficacy, safety, cost-effectiveness, and patient preference of FNA in the treatment of AR by comparing FNA with sham acupuncture, no treatment, and conventional medication. SEARCH STRATEGY: Eight electronic databases were systematically searched from inception to October 14, 2021. Additional studies were acquired from clinical trial registration platforms and reference lists. INCLUSION CRITERIA: Randomized controlled trials were included if they compared FNA with either sham acupuncture, no treatment or conventional medication for AR. DATA EXTRACTION AND ANALYSIS: Two researchers extracted data independently of each other using a predesigned data acquisition form, and results were cross-checked after completion. The primary outcome was symptom score (Total Nasal Symptom Score or Visual Analogue Scale), and the secondary outcomes were the AR control questionnaire, quality of life (QoL) score (Different versions of Rhinoconjunctivitis Quality of Life Questionnaire), medication score (use of rescue medication), mental health score, total IgE, adverse event rate, clinical economic indicators, and patient satisfaction score. Standardized mean difference (SMD) or mean difference (MD) with 95% confidence interval was used to calculate the effect size for continuous data, while risk ratio with 95% CI was used for dichotomous data. RESULTS: Thirty studies were included in this review. Compared with sham acupuncture, FNA significantly reduced the symptom score (SMD: -0.29 [-0.43, -0.15]), AR's impact on QoL (SMD: -0.23 [-0.37, -0.08]) and medication score (SMD: -0.3 [-0.49, -0.11]). Compared with no treatment, FNA dramatically reduced the symptom score (SMD: -0.8 [-1.2, -0.39]) and AR's impact on QoL (SMD: -0.82 [-1.13, -0.52]). There were no increased rates of adverse events with FNA compared to sham acupuncture and no treatment. FNA increased patient satisfaction and may be cost-effective. Most pieces of evidence from the above two comparisons were of high confidence. Moreover, FNA significantly outperformed conventional medication in reducing the symptom score (SMD: -0.48 [-0.85, -0.1]) and displayed a lower rate of adverse events, but the quality of evidence was very low. CONCLUSION FNA is an effective and safe intervention for AR and can help with symptom relief, QoL improvement, reducing medication usage, and increasing patient satisfaction. Further studies are needed to verify its cost-effectiveness and superiority over conventional medication and the best therapeutic strategies.
Humans ; Acupuncture Therapy/adverse effects* ; Pain Measurement ; Quality of Life ; Rhinitis, Allergic/therapy*

Background Ultrasound-guided continuous thoracic paravertebral block can provide pain-relieving and opioid-sparing effects in patients receiving open hepatectomy. We hypothesize that these effects may improve the quality of recovery (QoR) after open hepatectomy. Methods Seventy-six patients undergoing open hepatectomy were randomized to receive a continuous thoracic paravertebral block with ropivacaine (CTPVB group) or normal saline (control group). All patients received patient-controlled intravenous analgesia with morphine postoperatively for 48 hours. The primary outcome was the global Chinese 15-item Quality of Recovery score on postoperative day 7, which was statistically analyzed using Student's t-test. Results Thirty-six patients in the CTPVB group and 37 in the control group completed the study. Compared to the control group, the CTPVB group had significantly increased global Chinese 15-item Quality of Recovery scores (133.14 ± 12.97 vs. 122.62 ± 14.89, P = 0.002) on postoperative day 7. Postoperative pain scores and cumulative morphine consumption were significantly lower for up to 8 and 48 hours (P < 0.05; P = 0.002), respectively, in the CTPVB group. Conclusion Perioperative CTPVB markably promotes patient's QoR after open hepatectomy with a profound analgesic effect in the early postoperative period.
Anesthetics, Local/therapeutic use* ; Double-Blind Method ; Hepatectomy/adverse effects* ; Humans ; Morphine/therapeutic use* ; Pain Measurement ; Pain, Postoperative/etiology* ; Ultrasonography, Interventional