Tag: pubmed

Int J Legal Med. 2022 Mar 4. doi: 10.1007/s00414-022-02774-5. Online ahead of print.

ABSTRACT

Massively parallel sequencing (MPS) of mitochondrial (mt) DNA allows forensic laboratories to report heteroplasmy on a routine basis. Statistical approaches will be needed to determine the relative frequency of observing an mtDNA haplotype when including the presence of a heteroplasmic site. Here, we examined 1301 control region (CR) sequences, collected from individuals in four major population groups (European, African, Asian, and Latino), and covering 24 geographically distributed haplogroups, to assess the rates of point heteroplasmy (PHP) on an individual and nucleotide position (np) basis. With a minor allele frequency (MAF) threshold of 2%, the data was similar across population groups, with an overall PHP rate of 37.7%, and the majority of heteroplasmic individuals (77.3%) having only one site of heteroplasmy. The majority (75.2%) of identified PHPs had an MAF of 2-10%, and were observed at 12.6% of the nps across the CR. Both the broad and phylogenetic testing suggested that in many cases the low number of observations of heteroplasmy at any one np results in a lack of statistical association. The posterior frequency estimates, which skew conservative to a degree depending on the sample size in a given haplogroup, had a mean of 0.152 (SD 0.134) and ranged from 0.031 to 0.83. As expected, posterior frequency estimates decreased in accordance with 1/n as the sample size (n) increased. This provides a proposed conservative statistical framework for assessing haplotype/heteroplasmy matches when applying an MPS technique in forensic cases and will allow for continual refinement as more data is generated, both within the CR and across the mitochondrial genome.

PMID:35243529 | DOI:10.1007/s00414-022-02774-5

Zhonghua Er Ke Za Zhi. 2022 Mar 2;60(3):209-214. doi: 10.3760/cma.j.cn112140-20211027-00908.

ABSTRACT

Objective: To summarize the clinical features of Streptococcus pneumoniae-associated hemophagocytic syndrome (SP-HLH), and the serotypes and drug-resistant characteristics of the isolated strains. Methods: There were 15 children with SP-HLH admitted to the Pediatric Intensive Care Unit (PICU) of Beijing Children’s Hospital, Capital Medical University from January 2013 to December 2020 were included in this study. Clinical data including children’s general characteristics, clinical features, laboratory examinations, treatments, prognosis and the outcomes of follow-up by May 2021 were analyzed retrospectively. The serotypes and drug resistance of the isolated strains were identified. All children were divided into the clinical improvement group and the death group. Mann-Whitney U test, Fisher’s exact test were used to compare the data of the two groups. Results: Among the 15 children with SP-HLH, 8 were males and 7 were females. The age of these children was 1.0 (1.0, 2.5) years. Regarding the primary infection, there were 9 cases of severe pneumonia, 3 cases of meningitis and 3 cases of blood stream infection. None of these children had received pneumoniae conjugate vaccine (PCV) and all of them were admitted to the PICU. Respiratory failure was observed in 10 patients, acute renal injury in 5, and hemolytic uremic syndrome in 3 patients. All children received glucocorticoids and high-dose intravenous immunogloblin (IVIG) in addition to anti-infective treatment. Eight of the children were cured while the other 7 died. The neutrophil count in the death group was lower than that in the clinical improvement group ((5.0 (1.7, 9.3) × 10⁹vs. 5.2 (3.4, 10.5) ×10⁹/L, Z =-2.43, P<0.015), and the length of hospital stay and days of PICU stay in the death group were both shorter than those in the improvement group statistically (3 (1, 11) vs. 39 (34, 48) d, 2 (1, 4) vs. 19 (12, 31) d, Z=-3.25, -3.24, both P=0.001). Ten serotypes of Streptococcus pneumoniae were identified, including 4 strains of 19F, 3 of 19A, 1 of 23F, 1 of 15A and 1 of 14, among which 9 strains (9/10) were covered by PCV13. All strains were resistant to erythromycin yet sensitive to vancomycin and linezolid. Conclusions: SP-HLH is more common in children under the age of 3, with a high mortality rate. The death cases have lower neutrophil count and rapid disease progression. The comprehensive treatment is anti-infective combined with glucocorticoids and high-dose IVIG. The predominant serotypes are 19F and 19A and all isolated strains were susceptible to vancomycin and linezolid.

PMID:35240740 | DOI:10.3760/cma.j.cn112140-20211027-00908

Zhonghua Er Ke Za Zhi. 2022 Mar 2;60(3):237-241. doi: 10.3760/cma.j.cn112140-20210923-00814.

ABSTRACT

Objective: To evaluate the efficacy and safety of intra-articular injection of adalimumab (ADA) in the treatment of refractory oligoarticular juvenile idiopathic arthritis (JIA). Methods: This was a retrospective study. Clinical data on age, gender, and symptoms of joint swelling and pain were collected from 11 children with refractory oligoarticular JIA involving only knee joints admitted to Department of Rheumatism and Immunology of Children’s Hospital, Capital Institute of Pediatrics from November 2019 to October 2020. The physician and parent-child evaluation of disease activity, the number of active joints, and the level of erythrocyte sedimentation rate (ESR) at different treatment time points were analyzed at every 4-week observation point after drug administration, and the non-parametric Kruskal-Wallis test was used to compare the differences in clinical evaluation indicators and changes in laboratory tests at different treatment times. The follow-up period was 6 months. Results: Among the 11 children, 5 were boys and 6 were girls. The age was 3.0 (2.8) years. All 11 children had symptoms of joint swelling and pain as well as limitation of movement. After 3 intra-articular injections of ADA, the joint symptoms of 11 children were better than before treatment; the joint symptoms of 7 children disappeared completely, and no recurrence occurred during the 6-month follow-up period. At different treatment times, physician and parent-child evaluation of disease activity, a gradual decrease in the number of active joints in the children, ESR, and juvenile arthritis disease activity score with 27 joints were all statistically significant (χ²=53.99, 59.37, 32.87, 40.07, 54.00, all P<0.001).No significant adverse drug reactions were observed in any of the 11 children during treatment and follow-up. Conclusion: Intra-articular injection of ADA in the treatment of refractory oligoarticular JIA has a significant effect in controlling joint symptoms and is relatively safe.

PMID:35240745 | DOI:10.3760/cma.j.cn112140-20210923-00814

J Knee Surg. 2022 Mar 3. doi: 10.1055/s-0042-1743230. Online ahead of print.

ABSTRACT

Total knee arthroplasty (TKA) in cases of complex deformity (e.g., ligamentous laxity, posttraumatic arthritis) may require prostheses with inherent varus-valgus stability greater than that of traditional posterior stabilized or cruciate-retaining implants. Here, we investigate the clinical and radiographic outcomes of TKA using a midlevel constraint (MLC) prosthesis. A retrospective review of 53 patients (62 knees) who underwent primary TKA with an MLC implant was performed. Short tibial stem extensions were utilized in 49 knees, and 13 knees received no stem extension. Mean follow-up time was 31.6 months (standard deviation [SD] = 10.0, range = 24-53). Preoperative and postoperative range of motion (ROM) were assessed. Plain radiographs were reviewed for alignment, radiolucent lines, component loosening, and osteolysis. Patients who developed postoperative arthrofibrosis underwent manipulation under anesthesia (MUA). Failure was defined as instability, component loosening, or need for revision surgery. Mean ROM significantly improved from 114.1 degrees (SD = 19.7 degrees) preoperatively to 123.5 degrees (SD = 12.2 degrees) at final follow-up (t = -3.43, p = 0.001). Thirty-seven knees initially presented with varus deformity (mean = 7.5 degrees, SD = 4.8 degrees), whereas 23 had valgus deformity (mean = 10.6 degrees, SD = 6.5 degrees), and 2 knees had neutral alignment. Following surgery, mean alignment was 4.3 degrees valgus (SD = 1.7 degrees, range = 0-8 degrees), representing a statistically significant improvement (t = 5.29, p < 0.001). Six patients (9.7%) developed arthrofibrosis requiring MUA, which was irrespective of baseline ROM (p = 0.92) and consistent with 12% incidence reported in the literature. There were no significant differences in postoperative ROM (t = 0.38, p = 0.71), alignment (t = -0.22, p = 0.83), or incidence of arthrofibrosis (χ² = 0.07, p = 0.79) between short-stemmed and nonstemmed implants. There was no radiographic evidence of radiolucent lines, component loosening, or osteolysis in any patients. No patients required revision surgery. Use of an MLC prosthesis with primary femoral component in TKA resulted in satisfactory clinical and radiographic results with no evidence of component loosening, osteolysis, instability, or need for revision at minimum 2-year follow-up.

PMID:35240717 | DOI:10.1055/s-0042-1743230

Am J Perinatol. 2022 Mar 3. doi: 10.1055/a-1787-6785. Online ahead of print.

ABSTRACT

OBJECTIVE: Approximately 2% of women who undergo CVS will subsequently undergo amniocentesis due to placental mosaicism or sampling/laboratory issues. Our objective was to compare obstetric outcomes in women who underwent both procedures with those who had CVS alone.

STUDY DESIGN: Retrospective case-control study of patients with singleton pregnancies undergoing invasive testing from 2010-2020. All women who underwent CVS followed by amniocentesis were compared to a control group who underwent CVS alone matched (2:1) for age and year of pregnancy. Women with pregnancy loss at <16 weeks were excluded from the control group. Pregnancies terminated for genetic abnormalities were excluded. Obstetric outcomes were compared between cases and controls. Student t test and Fisher’s exact test were used for statistical comparison.

RESULTS: During the study period 2539 women underwent CVS, and 66 (2.6%) subsequently underwent amniocentesis. The 66 cases were compared to 132 age-matched controls who underwent CVS alone. Mean maternal age was 36.8 ± 3.4-yrs, and 43% of women were nulliparous. Amniocentesis was performed due to sampling or laboratory issues in 33% of cases, placental mosaicism in 44%, and further diagnostic testing in 23%. There were no pregnancy losses or stillbirths in either group. Those who had two invasive procedures delivered at similar gestational ages and birthweights, and did not have higher rates of adverse outcomes compared to those who underwent CVS alone.

CONCLUSION: Patients considering CVS who are concerned about the possibility that a second invasive procedure could be required should be reassured that this does not appear to be associated with higher rates of adverse outcomes. Due to study size, we cannot exclude the possibility of small differences in uncommon outcomes, such as pregnancy loss or stillbirth.

PMID:35240697 | DOI:10.1055/a-1787-6785

Am J Perinatol. 2022 Mar 3. doi: 10.1055/a-1786-8688. Online ahead of print.

ABSTRACT

BACKGROUND: Safety and efficacy data on controlled hypothermia (CH) for neonates with moderate to severe hypoxic ischemic encephalopathy has been extrapolated to a subgroup of these patients who also require extracorporeal membrane oxygenation for refractory persistent pulmonary hypertension of the newborn (PPHN). However, safety data on the concomitant use of CH and ECMO are lacking.

METHODS: Single-center retrospective study of neonates ≥35 weeks’ gestation with refractory PPHN who required ECMO between 01/2010-12/2020. Study groups were divided into those receiving CH/ECMO versus ECMO only. Baseline characteristics, short-term outcomes, and brain magnetic resonance imaging (MRI) data were compared.

RESULTS: A total of 36 neonates who received ECMO for refractory PPHN were included. Of these, 44.4% (n=16) received CH/ECMO and 55.6% (n=20) ECMO only. Bleeding complications were more common in CH/ECMO group 50% (n=8) vs ECMO only 15% (n=3, p=0.023). T1 brain magnetic resonance imaging severity scores was higher in CH/ECMO group vs ECMO only group, however there were not statistically different in T2 and DWI scores. Functional status and survival to discharge were comparable between groups.

CONCLUSION: In our cohort, neonates who received CH/ECMO had higher bleeding complications than ECMO only group with comparable functional status and survival at discharge.

PMID:35240700 | DOI:10.1055/a-1786-8688

Audiol Neurootol. 2022 Mar 3:1-15. doi: 10.1159/000521963. Online ahead of print.

ABSTRACT

BACKGROUND: Audiovestibular symptoms during the acute stage have been reported in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), while very few studies investigated the long-term audiovestibular manifestations of SARS-CoV-2.

OBJECTIVE: The objective of this study was to examine the occurrence of short- and long-term audiovestibular symptoms associated with SARS-CoV-2 infection.

METHOD: In this cross-sectional study, a questionnaire was distributed to severe hospitalized cases and nonhospitalized patients with mild disease, all with confirmed SARS-CoV-2 test results. Participants were inquired to report audiovestibular symptoms during the acute phase and at 6-month follow-up after contracting SARS-CoV-2.

RESULTS: A total of 301 participants completed the questionnaire. Auditory symptoms were reported by 21.9% and 1.99% of patients during the acute phase and 6 months post SARS-CoV-2 infection, respectively. During the acute phase of SARS-CoV-2 infection, aural fullness represents the most common symptoms (18.94%) followed by tinnitus (9.97%) and hearing loss (6.31%). Vestibular symptoms were reported by 34% during the acute phase; most commonly was dizziness (29.9%) followed by vertigo (24.25%) and unsteadiness (8.31%). Long-term and persistent vestibular problems were reported by 3.99% patients. There were no statistically significant differences in self-reported audiovestibular symptoms between patients with severe SARS-CoV-2 disease compared to those with mild disease.

CONCLUSION: The current study showed that audiovestibular symptoms are common among SARS-CoV-2 infected patients during the acute phase of the disease. However, these symptoms are mostly temporary and showed complete spontaneous recovery during the first 2 weeks postinfection.

PMID:35240596 | DOI:10.1159/000521963

J Craniofac Surg. 2022 Feb 28. doi: 10.1097/SCS.0000000000008579. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate the frequency of signs and symptoms of temporomandibular disorders (TMD), surgical complications, and patient’s self-reported mental health problems during orthognathic treatment.

MATERIAL AND METHODS: The clinical records of 145 patients treated with orthognathic treatment were retrospectively studied. Variables regarding occlusal parameters, treatment duration, TMD symptoms, complications, and self-reported mental health status at time points of T0 (beginning of the treatment), T1 (before surgery), and T2 (final examination) were evaluated. The variables were statistically compared with significance level of P < 0.05.

RESULTS: A total of 51% (n = 74) of the patients had TMD symptoms at 1 or several time points, women having significantly more TMD signs and symptoms (P = 0.002). Temporomandibular disorder signs and symptoms decreased significantly after orthognathic treatment (P=0.001). At least 1 self-reported mental health-related factor during 1 or several time points (T0-T2) was recorded in 17.2% (n = 25) of the patients. There was no significant difference in frequency of self-reported mental health problems in patients with TMD signs and symptoms compared with patients without TMD signs and symptoms (P > 0.05). The frequency of postoperative complications was 39.3%, being significantly higher after Bilateral Sagittal Split Osteothomy (BSSO, 48.7%). There was no difference in treatment duration of patients with self-reported mental health problems compared with patients without (P > 0.05).

CONCLUSIONS: In this study population, TMD signs and symptoms seem to be typical both in patients with or without self-reported mental health problems. Women had significantly more TMD symptoms. Orthognathic surgery treatment seems to have a positive effect on TMD signs and symptoms.

PMID:35240673 | DOI:10.1097/SCS.0000000000008579

Int J Med Inform. 2022 Feb 26;161:104732. doi: 10.1016/j.ijmedinf.2022.104732. Online ahead of print.

ABSTRACT

BACKGROUND: Regenerative endodontic procedures (REPs) are one of the most important developments in dental practice, and in the era of Covid 19 pandemic, audio-visual contents of YouTube™ could be an information source for dental students, practitioners and patients. The aim of this study was to evaluate the quality, content and the demographics of YouTube™ videos about REPs.

METHODS: A search on YouTube™ was performed for REPs using “endodontic regeneration”, “pulp regeneration”, “regenerative endodontics”, “regenerative endodontic procedures”, “revascularization” and “revitalization” keywords. Totally 531 videos were found and 60 videos met the inclusion criteria. Following the assessment of the demographic features of the videos and the viewing rate of the videos were calculated. The content of the videos was evaluated based on the selected headings. The quality of the videos was assessed using the video information, quality index (VIQI), Global Quality Score (GQS) and DISCERN. The statistical analysis was performed using Spearman Correlation and linear regression analysis.

RESULTS: Majority of the videos about REPs were created by dental professionals (91.7%). The most commonly covered topic was “clinical application” (76.7%). Total content score showed a positive correlation with total VIQI (r = 0.795; p < 0.001) and GQS (r = 0.952; p < 0.001). There were significant relationships between total content score, duration, GQS, total VIQI score and DISCERN.

CONCLUSION: The findings revealed that YouTube™ videos about REPs provide predominantly clinical information about patient chairside practice of REPs and they could be considered as a supplementary information source for dental students and practitioners.

PMID:35240558 | DOI:10.1016/j.ijmedinf.2022.104732

Pathol Res Pract. 2022 Feb 26;232:153830. doi: 10.1016/j.prp.2022.153830. Online ahead of print.

ABSTRACT

PURPOSE: The gastrointestinal tract is home to a wide variety of neoplasms. Gastrointestinal adenocarcinomas display distinct prognostic patterns. With the advent of next generation sequencing, attempts are being made to delineate distinct molecular characteristics of these adenocarcinomas from adjoining anatomical sites.

METHODS: Thirty-seven cases of upper gastrointestinal adenocarcinomas including those of the esophagus, gastroesophageal junction, stomach, small intestine and gallbladder were retrieved. Next generation sequencing data consisting of base substitutions, copy number variations, indels and rearrangements, in 324 genes, were analyzed for recurrent genetic abnormalities. Statistical analysis was performed using IBM SPSS25 and SAS software.

RESULTS: Genetic alterations were found in 181 genes. APC mutations were found in 50% of the esophageal adenocarcinomas, 5% of the gastric adenocarcinomas and 33.3% of the small intestinal adenocarcinomas (p = 0.04). PIK3 gene family mutations were found in 10% of the gastric adenocarcinomas, 66% of the gall bladder adenocarcinomas and 66% of the small intestinal adenocarcinomas (p = 0.002). The mutations were found exclusively in the PIK3 class 1 family. TP53 mutations were more common in tumors with intact DNA mismatch repair protein expression as assessed by immunohistochemistry (p = 0.042).

CONCLUSION: In this study, APC gene mutations were found to be more frequent in esophageal and small intestinal adenocarcinomas than previously reported. PIK3 class 1 gene family mutations were found to be more frequent in gallbladder and small intestinal adenocarcinomas. An inverse relationship was found between TP53 mutations and loss of DNA mismatch repair protein expression.

PMID:35240548 | DOI:10.1016/j.prp.2022.153830