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: 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

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

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*

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

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 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

BACKGROUND: Beginning with the concepts of stress developed by Selye, an approach to stress and pain management, known as neuro-emotional technique (NET), has been developed. It is a treatment approach based on the principle that the stressor effects of dormant and/or current unresolved issues or trauma are what determine one's bodily responses. These responses are relatively personalized to the conditioned, experiential and emotional reality of the individual. OBJECTIVE: To determine the effect of NET on patients with chronic low back pain (CLBP) over time. DESIGN, SETTING, PARTICIPANTS, AND INTERVENTIONS: In a randomized, double-blinded, placebo-controlled study conducted in a single clinic, NET or control treatments were given twice weekly for 4 weeks in a population of 112 patients. MAIN OUTCOME MEASURES: Outcome measures, including Oswestry Disability Index, Quadruple Visual Analogue Scale, the psychoneuroimmunology markers of blood serum levels of C-reactive protein, tumour necrosis factor-α, interleukin-1 (IL-1), IL-6, and IL-10, and 10 dimensions of the Short Form Health Survey scale, were assessed at baseline and at 1, 3 and 6 months following the intervention period. RESULTS: Compared to placebo, NET produced clinical and statistical significance (P < 0.001) via declines of virtually all physiological, pain and disability markers, accompanied by gains in quality-of-life indicators at 0 (baseline), 1, 3 and 6 months. Reductions of the percentages of patients whose 5 biomarkers lay outside the normative range were achieved at 1, 3 and 6 months by NET but not control interventions. CONCLUSION: A randomized, controlled trial of CLBP patients indicated that 8 NET interventions, compared to placebo, produced clinically and statistically significant reductions in pain, disability and inflammatory biomarkers, and improvements in quality-of-life measures. TRIAL REGISTRATION The trial was registered with the Australian and New Zealand Clinical Trials Registry (No. ACTRN12608000002381).
Australia ; Chronic Pain/therapy* ; Double-Blind Method ; Humans ; Low Back Pain/therapy* ; Pain Measurement ; Treatment Outcome

OBJECTIVE: To investigate the clinical effect of Kinesio Taping combined with electroacupuncture in the treatment of Bigliani typeⅠsubacromial impingement syndrome. METHODS: From January 2019 to June 2021, 82 cases with Bigliani typeⅠsubacromial impingement syndrome were selected and divided into treatment group and control group. Treatment group included 41 cases, 23 males and 18 females, aged from 20 to 52 years old, with an average of (39.31±5.80)years old. There were 12 cases on left shoulder and 29 cases on right shoulder. The course of disease was from 3.2 to 35.4 months. The treatment group was treated with Kinesio Taping and electroacupuncture. In control group, there were 41 cases, including 22 males and 19 females, aged from 19 to 53 years old with an average of (40.67±6.13) years old, 30 cases on right shoulder, 11 cases on left shoulder. The courses of disease was from 3.0 to 36.0 months. The control group was treated with simple shoulder electroacupuncture. Patients in both groups were treated with electroacupuncture 3 times a week for 3 weeks. After each electroacupuncture treatment in the treatment group, the Kinesio Taping was applied immediately and kept for 2 days. Before treatment, immediately after treatment, and after 1, 3, 8 weeks, the shoulder joint Constant-Murley score, pain visual analogue scale (VAS), and shoulder joint range of motion were used to evaluate the treatment effect. RESULTS: After 1 week of treatment, there was 1 patient in treatment group refused treatment due to hypersensitivity to Kinesio Taping, 1 patient in control group was allergic to the metal needle and refused treatment. And the other 80 patients completed all treatment. Immediately after treatment, and 1, 3, and 8 weeks after treatment, VAS of treatment group were (2.06±1.03), (2.74±1.66), (3.28±1.04), and (3.90±0.12) points, respectively. The Constant-Murley scores of shoulder joint were(86.41±3.52), (82.44±3.14), (80.46±2.54), (76.97±2.01) points. VAS of control group were(3.35±0.41), (3.08±0.92), (3.77±0.67), (3.96±1.04) points, and the Constant-Murley scores of the shoulder joint were(75.82±2.73), (74.72±1.53), (73.66±1.53), (70.68±1.95) points respectively. Immediately after treatment, VAS, Constant-Murley score, and shoulder range of motion between two groups were better than those of before treatment (P<0.05), and the difference was statistically significant between two groups after treatment (P<0.05). One week after treatment, VAS, Constant-Murley score, and shoulder joint range of motion between two groups were better than those of before treatment (P<0.05), but there was no significant difference in VAS between two groups (P>0.05). There were significant differences in the Constant-Murley score and shoulder range of motion between two groups (P<0.05). At 3 and 8 weeks after treatment, VAS, Constant-Murley score, and the range of motion of shoulder joints between two groups were better than those of before treatment (P<0.05), but there was no significant difference between two groups(P>0.05). CONCLUSION The treatment for bigliani typeⅠsubacromial impingement syndrome with Kinesio Taping combined with electroacupuncture can reduce pain, effectively improve the function of shoulder joint. In addition, with Kinesio Taping protection when motion, the patients sports ability can be improved obviously, with good immediate effect, and no trauma. If the patients are willing to accept it, it would be an immediate and effective treatment.
Male ; Female ; Humans ; Young Adult ; Adult ; Middle Aged ; Electroacupuncture ; Athletic Tape ; Shoulder Impingement Syndrome/therapy* ; Range of Motion, Articular ; Pain Measurement ; Treatment Outcome

OBJECTIVE: To assess the efficacy and safety of Bushen Huoxue Formula (BSHXF) for the treatment of discogenic low-back pain (DLBP). METHODS: This was a parallel, double-blind, randomized, clinical trial performed between May 2019 and June 2020. Seventy patients were assigned by computerized random number table to the treatment group (lumbar traction and BSHXF, 35 cases) or the control group (lumbar traction and placebo, 35 cases). The patients received intervention for 3 weeks. Assessment was conducted before treatment and at week 1, 2, 3 during treatment. Primary outcome was the self-reported score of Oswestry Disability Index (ODI). Secondary outcomes included Visual Analog Scale (VAS), clinical efficacy rate by minimal clinically important difference (MCID) as well as lumbar tenderness, muscle tone and lumbar spine mobility. Adverse reactions were recorded. Follow-up was performed at 1 and 3 months after the end of treatment. RESULTS: In the treatment group, ODI score was significantly decreased compared with baseline (P<0.05) and the control group at 2- and 3- week treatment. Similarly, VAS score decreased compared with the baseline (P<0.05) and was lower than that in the control group at 2- and 3- week treatment (P<0.05). The clinical efficacy rate of the treatment group was higher than that of the control group after treatment [32.35% (11/34) vs. 3.13% (1/32), P<0.05). Moreover, the tenderness, and muscle tone, as well as the back extension and left flexion in lumbar spine mobility in the treatment group at 3-week treatment were significantly improved compared with the control group (P<0.05). Follow-up showed that at 1-month after treatment, the treatment group had better outcomes than the control group with regard to a total score of ODI and VAS scores, as well as clinical efficacy rate (all P<0.05). Moreover, VAS score was still significantly lower than the control group at 3-month follow-up (P<0.05). No adverse reactions were reported during the study. CONCLUSION BSXHF combined with lumbar traction can significantly improve the clinical symptoms including pain intensity, functionality, muscle tone, and lumbar spine mobility in DLBP patients. (Registration No. ChiCTR1900027777).
Humans ; Intervertebral Disc Degeneration/therapy* ; Low Back Pain/drug therapy* ; Lumbar Vertebrae ; Pain Measurement ; Treatment Outcome